Karimi, Hind; En-Nanai, Latifa; Oudghiri, Amal; Chaoui, Imane; Laglaoui, Amin; Bourkadi, Jamal Eddine; El Mzibri, Mohammed; Abid, Mohammed
2018-03-01
In Morocco, tuberculosis (TB) is a major public health problem with high morbidity and mortality. The main problem faced by the national TB programme is the high rate of drug-resistant (DR), particularly multi-drug resistant (MDR) strains. Diagnosis of DR-TB is mainly performed by conventional techniques that are time consuming with limited efficacy. In 2014, the GenoType ® MTBDRplus assay was introduced in Morocco for drug susceptibility testing (DST). In this regard, the present study was planned to assess the diagnostic accuracy of the GenoType ® MTBDRplus assay. A total of 70 samples from suspected TB cases in Tangier (Morocco) were analysed by conventional DST and GenoType ® MTBDRplus assay. Among the 70 samples, 37.1% were MDR, whereas monoresistance to isoniazid (INH) and rifampicin (RIF) was detected in 186% and 17.1% of strains, respectively, by DST. Using the GenoType ® MTBDRplus approach, 12 isolates (17.1%) were identified as INH monoresistant, 9 (12.9%) as RIF monoresistant and 26 (37.1%) as MDR. rpoB531 and katG315 mutations were the most common mutations associated with resistance to RIF and INH, respectively. Significantly, all phenotypically MDR strains were also MDR by GenoType ® MTBDRplus. The sensitivity of GenoType ® MTBDRplus was 92.1% for RIF resistance and 97.4% for INH resistance, whereas the specificity was 100% for the two tested drugs. GenoType ® MTBDRplus assay is a rapid, reliable and accurate tool for the detection of DR-TB in clinical specimens. Its routine use will be of a great interest to prevent the dissemination of DR-TB in the community. Copyright © 2017 International Society for Chemotherapy of Infection and Cancer. Published by Elsevier Ltd. All rights reserved.
Tekin, Kemal; Albay, Ali; Simsek, Hulya; Sig, Ali Korhan; Guney, Mustafa
2017-01-01
Objective: The present study aimed to evaluate the performances of the BACTEC MGIT 960 SL DST kit and the GenoType MTBDRsl test for detecting second-line antituberculosis drug resistance in Multidrug-resistant TB (MDR-TB) cases. Materials and Methods: Forty-six MDR-TB strains were studied. Second-line antituberculosis drug resistances were detected using the BACTEC MGIT 960 SL DST kit and the GenoType MTBDRsl test. The Middlebrook 7H10 agar proportion method was used as the reference test. Results: The sensitivity and specificity values for the BACTEC MGIT 960 SL DST kit were both 100% for amikacin, kanamycin, capreomycin (4 µg/mL), and ofloxacin; 100% and 95.3%, respectively, for capreomycin (10 µg/mL); and 85.7% and 100%, respectively, for moxifloxacin (0.5 µg/mL). The sensitivity and specificity values for the GenoType MTBDRsl test to detect fluoroquinolone and aminoglycoside/cyclic peptide resistance were 88.9% and 100%, respectively, for ofloxacin and 85.7% and 94.9%, respectively, for moxifloxacin (0.5 µg/mL). The accuracy of the GenoType MTBDRsl assay for kanamycin, capreomycin, ofloxacin, and moxifloxacin was lower than that of the BACTEC MGIT 960 SL DST. Conclusion: The BACTEC MGIT 960 SL DST kit and the GenoType MTBDRsl were successful in detecting second-line antituberculosis drug resistance. Preliminary results of the GenoType MTBDRsl are very valuable for early treatment decisions, but we still recommend additional BACTEC MGIT 960 SL DST kit usage in the routine evaluation of drug-resistant tuberculosis. PMID:29123441
Tekin, Kemal; Albay, Ali; Simsek, Hulya; Sig, Ali Korhan; Guney, Mustafa
2017-10-01
The present study aimed to evaluate the performances of the BACTEC MGIT 960 SL DST kit and the GenoType MTBDRsl test for detecting second-line antituberculosis drug resistance in Multidrug-resistant TB (MDR-TB) cases. Forty-six MDR-TB strains were studied. Second-line antituberculosis drug resistances were detected using the BACTEC MGIT 960 SL DST kit and the GenoType MTBDRsl test. The Middlebrook 7H10 agar proportion method was used as the reference test. The sensitivity and specificity values for the BACTEC MGIT 960 SL DST kit were both 100% for amikacin, kanamycin, capreomycin (4 µg/mL), and ofloxacin; 100% and 95.3%, respectively, for capreomycin (10 µg/mL); and 85.7% and 100%, respectively, for moxifloxacin (0.5 µg/mL). The sensitivity and specificity values for the GenoType MTBDRsl test to detect fluoroquinolone and aminoglycoside/cyclic peptide resistance were 88.9% and 100%, respectively, for ofloxacin and 85.7% and 94.9%, respectively, for moxifloxacin (0.5 µg/mL). The accuracy of the GenoType MTBDRsl assay for kanamycin, capreomycin, ofloxacin, and moxifloxacin was lower than that of the BACTEC MGIT 960 SL DST. The BACTEC MGIT 960 SL DST kit and the GenoType MTBDRsl were successful in detecting second-line antituberculosis drug resistance. Preliminary results of the GenoType MTBDRsl are very valuable for early treatment decisions, but we still recommend additional BACTEC MGIT 960 SL DST kit usage in the routine evaluation of drug-resistant tuberculosis.
Costa-Alcalde, José Javier; Barbeito-Castiñeiras, Gema; González-Alba, José María; Aguilera, Antonio; Galán, Juan Carlos; Pérez-Del-Molino, María Luisa
2018-06-02
The American Thoracic Society and the Infectious Diseases Society of America recommend that clinically significant non-tuberculous mycobacteria (NTM) should be identified to the species level in order to determine their clinical significance. The aim of this study was to evaluate identification of rapidly growing NTM (RGM) isolated from clinical samples by using MALDI-TOF MS and a commercial molecular system. The results were compared with identification using a reference method. We included 46 clinical isolates of RGM and identified them using the commercial molecular system GenoType ® CM/AS (Hain, Lifescience, Germany), MALDI-TOF MS (Bruker) and, as reference method, partial rpoβ gene sequencing followed by BLAST and phylogenetic analysis with the 1093 sequences available in the GeneBank. The degree of agreement between GenoType ® and MALDI-TOF MS and the reference method, partial rpoβ sequencing, was 27/43 (62.8%) and 38/43 cases (88.3%) respectively. For all the samples correctly classified by GenoType ® , we obtained the same result with MALDI-TOF MS (27/27). However, MALDI-TOF MS also correctly identified 68.75% (11/16) of the samples that GenoType ® had misclassified (p=0.005). MALDI-TOF MS classified significantly better than GenoType ® . When a MALDI-TOF MS score >1.85 was achieved, MALDI-TOF MS and partial rpoβ gene sequencing were equivalent. GenoType ® was not able to distinguish between species belonging to the M. fortuitum complex. MALDI-TOF MS methodology is simple, rapid and associated with lower consumable costs than GenoType ® . The partial rpoβ sequencing methods with BLAST and phylogenetic analysis were not able to identify some RGM unequivocally. Therefore, sequencing of additional regions would be indicated in these cases. Copyright © 2018 Elsevier España, S.L.U. and Sociedad Española de Enfermedades Infecciosas y Microbiología Clínica. All rights reserved.
Karumaa, Santra; Kärpänoja, Pauliina; Sarkkinen, Hannu
2012-03-01
We have evaluated the GenoType blood culture assay (Hain Lifescience, Nehren, Germany) for the identification of bacteria in 233 positive blood cultures and assessed its suitability in the workflow of a routine microbiology laboratory. In 68/233 (29.2%) samples, the culture result could not be confirmed by the GenoType assay due to a lack of primers in the test, multiple organisms in the sample, or inconsistency with respect to the identification by culture. Although the GenoType blood culture assay gives satisfactory results for bacteria for which primers are available, there are difficulties in applying the test in the routine microbiology laboratory.
Evaluation of GenoType NTM-DR Assay for Identification of Mycobacterium chimaera.
Mok, Simone; Rogers, Thomas R; Fitzgibbon, Margaret
2017-06-01
Identification of species within the Mycobacterium avium complex (MAC) is difficult, and most current diagnostic laboratory tests cannot distinguish between species included in the complex. Differentiation of species within the MAC is important, as Mycobacterium chimaera has recently emerged as a major cause of invasive cardiovascular infections following open heart surgery. A new commercial diagnostic assay, GenoType NTM-DR ver. 1.0, is intended to differentiate between three species within the MAC, namely, Mycobacterium avium , Mycobacterium intracellulare , and Mycobacterium chimaera In this study, we investigated an archival collection of 173 MAC isolates using 16S rRNA and 16S-23S internal transcribed spacer (ITS) gene sequencing, and GenoType NTM-DR was evaluated for identifying M. chimaera and other species belonging to the MAC. Species identification of 157/173 (91%) isolates with the GenoType NTM-DR assay was in agreement with 16S rRNA and 16S-23S ITS gene sequencing results. Misidentification occurred with 16 isolates which belonged to four species included in the MAC that are rarely encountered in clinical specimens. Despite some limitations of this assay, GenoType NTM-DR had 100% specificity for identifying M. chimaera This novel assay will enable diagnostic laboratories to differentiate species belonging to the Mycobacterium avium complex and to accurately identify M. chimaera It can produce rapid results and is also more cost efficient than gene sequencing methods. Copyright © 2017 American Society for Microbiology.
Comparison of methods available for identification of Mycobacterium chimaera.
Lecorche, E; Haenn, S; Mougari, F; Kumanski, S; Veziris, N; Benmansour, H; Raskine, L; Moulin, L; Cambau, E
2018-04-01
Mycobacterium chimaera is a recently described nontuberculous mycobacterium belonging to the Mycobacterium avium complex (MAC). Because this species is implicated in a worldwide outbreak due to contaminated heater-cooler unit water tanks during open-heart surgery, it has become mandatory for clinical microbiology laboratories to be able to differentiate M. chimaera from the other MAC species, especially M. intracellulare. Such identification has so far been restricted to specialized laboratories because it required the analysis of several gene sequences. The aim of this study was to evaluate commercial methods for identifying M. chimaera with regard to the reference gene sequencing ITS, the internal transcribed spacer 16-23S. Forty-seven clinical and environmental isolates including 41 MAC were identified by (a) PCR sequencing of the ITS and hsp65 genes, (b) three molecular biology kits (INNO-LiPA Mycobacteria, GenoType Mycobacterium CM and GenoType NTM-DR) and (c) matrix-assisted desorption ionization-time of flight mass spectrometry (MALDI-TOF MS) using Microflex LT. There was a high concordance for species determination between the reference ITS sequencing and the GenoType NTM-DR test (39/41, 95%), the INNO-LiPA Mycobacteria test (38/41, 93%) and the hsp65 sequencing (38/41, 93%). The GenoType Mycobacterium CM test did not distinguish M. chimaera from M. intracellulare. MALDI-TOF MS distinguished two M. chimaera-M. intracellulare groups separated from M. avium and from the other mycobacterial species on a score-oriented dendrogram, but it also failed to differentiate the two species. INNO-LiPA Mycobacteria and GenoType NTM-DR are efficient assays for M. chimaera identification in clinical microbiology laboratories. Copyright © 2017 European Society of Clinical Microbiology and Infectious Diseases. Published by Elsevier Ltd. All rights reserved.
Ostojić, Maja; Hukić, Mirsada
2015-08-04
Staphylococcus aureus is a major cause of hospital-acquired infections worldwide. Increased frequency of methicillin-resistant Staphylococcus aureus (MRSA) in hospitalized patients and possibility of vancomycin resistance requires rapid and reliable characterization of isolates and control of MRSA spread in hospitals. Typing of isolates helps to understand the route of a hospital pathogen spread. The aim of this study was to investigate and compare genotypic and phenotypic characteristics of MRSA samples on three different geography locations. In addition, our aim was to evaluate three different methods of MRSA typing: spa-typing, agr-typing and GenoType MRSA. We included 104 samples of MRSA, isolated in 3 different geographical locations in clinical hospitals in Zagreb, Mostar, and Heidelberg, during the period of six months. Genotyping and phenotyping were done by spa-typing, agr-typing and dipstick assay GenoType MRSA. We failed to type all our samples by spa-typing. The most common spa-type in clinical hospital Zagreb was t041, in Mostar t001, and in Heidelberg t003.We analyzed 102/104 of our samples by agr-typing method. We did not find any agr-type IV in our locations. We analyzed all our samples by the dipstick assay GenoType MRSA. All isolates in our study were MRSA strains. In Zagreb there were no positive strains to PVL gene. In Mostar we have found 5/25 positive strains to PVL gene, in Heidelberg there was 1/49. PVL positive isolates were associated with spa-type t008 and agr-type I, thus, genetically, they were community-associated MRSA (CA-MRSA). Dipstick assay GenoType MRSA has demonstrated sufficient specificity, sensibility, simple performance and low cost, so we could introduce it to work in smaller laboratories. Using this method may expedite MRSA screening, thus preventing its spread in hospitals.
Rabodoarivelo, Marie Sylvianne; Imperiale, Bélen; andrianiavomikotroka, Rina; Brandao, Angela; Kumar, Parveen; Singh, Sarman; Ferrazoli, Lucilaine; Morcillo, Nora; Rasolofo, Voahangy; Palomino, Juan Carlos; Vandamme, Peter; Martin, Anandi
2015-01-01
Background Detection of drug-resistant tuberculosis is essential for the control of the disease but it is often hampered by the limitation of transport and storage of samples from remote locations to the reference laboratory. We performed a retrospective field study to evaluate the performance of four supports enabling the transport and storage of samples to be used for molecular detection of drug resistance using the GenoType MTBDRplus. Methods Two hundred Mycobacterium tuberculosis strains were selected and spotted on slides, FTA cards, GenoCards, and in ethanol. GenoType MTBDRplus was subsequently performed with the DNA extracted from these supports. Sensitivity and specificity were calculated and compared to the results obtained by drug susceptibility testing. Results For all supports, the overall sensitivity and specificity for detection of resistance to RIF was between 95% and 100%, and for INH between 95% and 98%. Conclusion The four transport and storage supports showed a good sensitivity and specificity for the detection of resistance to RIF and INH in M. tuberculosis strains using the GenoType MTBDRplus. These supports can be maintained at room temperature and could represent an important alternative cost-effective method useful for rapid molecular detection of drug-resistant TB in low-resource settings. PMID:26431352
van Hal, S. J.; Stark, D.; Lockwood, B.; Marriott, D.; Harkness, J.
2007-01-01
Methicillin-resistant Staphylococcus aureus (MRSA) is an increasing problem. Rapid detection of MRSA-colonized patients has the potential to limit spread of the organism. We evaluated the sensitivities and specificities of MRSA detection by two molecular methods (IDI-MRSA PCR assay and GenoType MRSA Direct PCR assay) and three selective MRSA agars (MRSA ID, MRSASelect, and CHROMagar MRSA), using 205 (101 nasal, 52 groin, and 52 axillary samples) samples from consecutive known MRSA-infected and/or -colonized patients. All detection methods had higher MRSA detection rates for nasal swabs than for axillary and groin swabs. Detection of MRSA by IDI-MRSA was the most sensitive method, independent of the site (94% for nasal samples, 80% for nonnasal samples, and 90% overall). The sensitivities of the GenoType MRSA Direct assay and the MRSA ID, MRSASelect, and CHROMagar MRSA agars with nasal swabs were 70%, 72%, 68%, and 75%, respectively. All detection methods had high specificities (95 to 99%), independent of the swab site. Extended incubation for a further 24 h with selective MRSA agars increased the detection of MRSA, with a corresponding decline in specificity secondary to a significant increase in false-positive results. There was a noticeable difference in test performance of the GenoType MRSA Direct assay in detection of MRSA (28/38 samples [74%]) compared with detection of nonmultiresistant MRSA (17/31 samples [55%]) (susceptible to two or more non-β-lactam antibiotics). This was not observed with selective MRSA agar plates or IDI-MRSA. Although it is more expensive, in addition to rapid turnaround times of 2 to 4 h, IDI-MRSA offers greater detection of MRSA colonization, independent of the swab site, than do conventional selective agars and GenoType MRSA Direct. PMID:17537949
Llerena, Claudia; Medina, Raquel
2017-01-24
The GenoType®MTBDRplusV.2 assay is a molecular technique endorsed by the World Health Organization and the Pan American Health Organization that allows for the identification of the Mycobacterium tuberculosis complex and the detection of mutations in the rpoβ gene for rifampicin resistance, and katG and inhA genes for isoniazid resistance. Due to the genetic variability in the circulating strains around the world, the national tuberculosis control programs should assess the performance of these new diagnostic technologies and their use under program conditions as rapid tests. To describe the mutations identified by the GenoType®MTBDRplusV.2 assay in pulmonary samples and Mycobacterium tuberculosis isolates in the Laboratorio Nacional de Referencia of the Instituto Nacional de Salud in 2014. We conducted a retrospective, descriptive study to detect the expression of inhA, KatG and rpoβ genes, responsible for resistence against isoniazid and rifampicin using the GenoType® MTBDRplus V.2 assay in 837 samples and isolates from tuberculosis cases. Several mutations in the rpoβ gene were identified. Ser531Leu was the most frequent (36.6%) followed by Asp516Val (21.6%), while Ser315Thr1 was the most frequent mutation in the katG gene (91.9%). We were able to identify different mutations present in MDR-TB strains in the country, with frequencies similar to those reported in other countries in the South American region.
Lu, Qiongshi; Hu, Yiming; Sun, Jiehuan; Cheng, Yuwei; Cheung, Kei-Hoi; Zhao, Hongyu
2015-05-27
Identifying functional regions in the human genome is a major goal in human genetics. Great efforts have been made to functionally annotate the human genome either through computational predictions, such as genomic conservation, or high-throughput experiments, such as the ENCODE project. These efforts have resulted in a rich collection of functional annotation data of diverse types that need to be jointly analyzed for integrated interpretation and annotation. Here we present GenoCanyon, a whole-genome annotation method that performs unsupervised statistical learning using 22 computational and experimental annotations thereby inferring the functional potential of each position in the human genome. With GenoCanyon, we are able to predict many of the known functional regions. The ability of predicting functional regions as well as its generalizable statistical framework makes GenoCanyon a unique and powerful tool for whole-genome annotation. The GenoCanyon web server is available at http://genocanyon.med.yale.edu.
GenoGAM: genome-wide generalized additive models for ChIP-Seq analysis.
Stricker, Georg; Engelhardt, Alexander; Schulz, Daniel; Schmid, Matthias; Tresch, Achim; Gagneur, Julien
2017-08-01
Chromatin immunoprecipitation followed by deep sequencing (ChIP-Seq) is a widely used approach to study protein-DNA interactions. Often, the quantities of interest are the differential occupancies relative to controls, between genetic backgrounds, treatments, or combinations thereof. Current methods for differential occupancy of ChIP-Seq data rely however on binning or sliding window techniques, for which the choice of the window and bin sizes are subjective. Here, we present GenoGAM (Genome-wide Generalized Additive Model), which brings the well-established and flexible generalized additive models framework to genomic applications using a data parallelism strategy. We model ChIP-Seq read count frequencies as products of smooth functions along chromosomes. Smoothing parameters are objectively estimated from the data by cross-validation, eliminating ad hoc binning and windowing needed by current approaches. GenoGAM provides base-level and region-level significance testing for full factorial designs. Application to a ChIP-Seq dataset in yeast showed increased sensitivity over existing differential occupancy methods while controlling for type I error rate. By analyzing a set of DNA methylation data and illustrating an extension to a peak caller, we further demonstrate the potential of GenoGAM as a generic statistical modeling tool for genome-wide assays. Software is available from Bioconductor: https://www.bioconductor.org/packages/release/bioc/html/GenoGAM.html . gagneur@in.tum.de. Supplementary information is available at Bioinformatics online. © The Author (2017). Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com
Chiochetta, Claudete G; Goetten, Luís C; Almeida, Sônia M; Quaranta, Gaetana; Cotelle, Sylvie; Radetski, Claudemir M
2014-01-01
The chemical and ecotoxicological characteristics of fresh and stabilized industrial organic sludge leachates were compared to obtain information regarding how the stabilization process can influence the ecotoxic potential of this industrial waste, which could be used for the amendment of degraded soil. Physicochemical analysis of the sludge leachates, as well as a battery of eco(geno)toxicity tests on bacteria, algae, daphnids, and higher plants (including Vicia faba genotoxicity test) and the determination of hydrolytic enzyme activity, was performed according to standard methods. The chemical comparison of the two types of leachate showed that the samples obtained from stabilized sludge had a lower organic content and higher metal content than leachates of the fresh sludge. The eco(geno)toxicological results obtained with aquatic organisms showed that the stabilized sludge leachate was more toxic than the fresh sludge leachate, both originating from the same industrial organic sludge sample. Nevertheless, phytotoxicity tests carried out with a reference peat soil irrigated with stabilized sludge leachate showed the same toxicity as the fresh sludge leachate. In the case of the industrial solid organic sludge studied, stabilization through a biodegradation process promoted a higher metal mobility/bioavailability/eco(geno)toxicity in the stabilized sludge leachate compared to the fresh sludge leachate.
A step-by-step introduction to rule-based design of synthetic genetic constructs using GenoCAD.
Wilson, Mandy L; Hertzberg, Russell; Adam, Laura; Peccoud, Jean
2011-01-01
GenoCAD is an open source web-based system that provides a streamlined, rule-driven process for designing genetic sequences. GenoCAD provides a graphical interface that allows users to design sequences consistent with formalized design strategies specific to a domain, organization, or project. Design strategies include limited sets of user-defined parts and rules indicating how these parts are to be combined in genetic constructs. In addition to reducing design time to minutes, GenoCAD improves the quality and reliability of the finished sequence by ensuring that the designs follow established rules of sequence construction. GenoCAD.org is a publicly available instance of GenoCAD that can be found at www.genocad.org. The source code and latest build are available from SourceForge to allow advanced users to install and customize GenoCAD for their unique needs. This chapter focuses primarily on how the GenoCAD tools can be used to organize genetic parts into customized personal libraries, then how these libraries can be used to design sequences. In addition, GenoCAD's parts management system and search capabilities are described in detail. Instructions are provided for installing a local instance of GenoCAD on a server. Some of the future enhancements of this rapidly evolving suite of applications are briefly described. Copyright © 2011 Elsevier Inc. All rights reserved.
Dreyer, A. W.; Koornhof, H. J.; Omar, S. V.; da Silva, P.; Bhyat, Z.; Ismail, N. A.
2016-01-01
ABSTRACT Early detection of resistance to second-line antituberculosis drugs is important for the management of multidrug-resistant tuberculosis (MDR-TB). The GenoType MTBDRsl version 2.0 (VER 2.0) line probe assay has been redesigned for molecular detection of resistance-conferring mutations of fluoroquinolones (FLQ) (gyrA and gyrB genes) and second-line injectable drugs (SLID) (rrs and eis genes). The study evaluated the diagnostic performance of the GenoType MTBDRsl VER 2.0 assay for the detection of second-line drug resistance compared with phenotypic drug susceptibility testing (DST), using the Bactec MGIT 960 system on Mycobacterium tuberculosis complex isolates from South Africa. A total of 268 repository isolates collected between 2012 and 2014, which were rifampin monoresistant or MDR based on DST, were selected. MTBDRsl VER 2.0 testing was performed on these isolates and the results analyzed. The MTBDRsl VER 2.0 sensitivity and specificity indices for culture isolates were the following: FLQ, 100% (95% confidence interval [CI] 95.8 to 100%) and 98.9% (95% CI, 96.1 to 99.9%); SLID, 89.2% (95% CI, 79.1 to 95.6%) and 98.5% (95% CI, 95.7 to 99.7%). The sensitivity and specificity observed for individual SLID were the following: amikacin, 93.8% (95% CI, 79.2 to 99.2%) and 98.5% (95% CI, 95.5 to 99.7%); kanamycin, 89.2% (95% CI, 79.1 to 95.6%) and 98.5% (95% CI, 95.5 to 99.7%); and capreomycin, 86.2% (95% CI, 68.3 to 96.1%) and 95.9% (95% CI, 92.2 to 98.2%). An interoperator reproducibility of 100% and an overall interlaboratory performance of 93% to 96% were found. The overall improvement in sensitivity and specificity with excellent reproducibility makes the GenoType MTBDRsl VER 2.0 a highly suitable tool for rapid screening of clinical isolates for second-line drug resistance for use in high-burden TB/HIV settings. PMID:27974543
Heyndrickx, M; Herman, L; Vlaes, L; Butzler, J P; Wildemauwe, C; Godard, C; De Zutter, L
2007-02-01
Eighteen Belgian broiler flocks were followed from the hatchery to the slaughterhouse by a multiple typing approach (sero-, geno-, and phage types) for the investigation of the transmission of Salmonella and its subtypes. For 12 of the 18 flocks, there was no correlation between the serotypes found preharvest and those isolated from the feces in the transport crates and on the carcasses in the slaughterhouse. Serotypes found in the crates were usually also found on the carcasses. In 5 of the 10 flocks with Salmonella-positive broilers, complex contamination patterns with the involvement of different serotypes, genotypes, or both were revealed. In two of these flocks (flocks 8 and 9), the Salmonella Enteritidis contamination of the broilers could be traced to the hatchery. In flock 9, evidence was found for the acquisition, during rearing, of a megaplasmid in the Salmonella Enteritidis strain. In the other three positive flocks (flocks 6, 7, and 10), the environment and movable material (e.g., footwear) played a determining role in the infection and shedding pattern of the broilers. For flocks 6 and 7, reared consecutively in the same broiler house, a persistent Salmonella Hadar geno/phage type predominated in the preharvest period, while another Salmonella Hadar geno/phage type was found in the house or the environment but never in the broilers. Only for the above-mentioned five flocks were the same strains that were found preharvest also recovered from the carcasses, although these strains were not predominant on the carcasses, with the exception of one flock (flock 10). In conclusion, it can be said that most of the time, Salmonella strains that contaminate Belgian broiler carcasses do not predominate in the preharvest environment.
Complete genome sequence of the hippuricase-positive Campylobacter avium type strain LMG 24591
USDA-ARS?s Scientific Manuscript database
Campylobacter avium is a hippurate-positive, thermotolerant campylobacter that has been isolated from poultry. Here we present the genome sequences of two C. avium strains isolated from broiler chickens: strains LMG 24591T (complete genome) and LMG 24592 (draft genome). The C. avium type strain geno...
The role of TPA I/D and PAI-1 4G/5G polymorphisms in multiple sclerosis.
Zivković, Maja; Starčević Čizmarević, Nada; Lovrečić, Luca; Klupka-Sarić, Inge; Stanković, Aleksandra; Gašparović, Iva; Lavtar, Polona; Dinčić, Evica; Stojković, Ljiljana; Rudolf, Gorazd; Jazbec, Saša Sega; Perković, Olivio; Sinanović, Osman; Sepčić, Juraj; Kapović, Miljenko; Peterlin, Borut; Ristić, Smiljana
2014-01-01
Previous studies have shown impaired fibrinolysis in multiple sclerosis (MS) and implicated extracellular proteolytic enzymes as important factors in demyelinating neuroinflammatory disorders. Tissue-type plasminogen activator (t-PA) and its inhibitor (PAI-1) are key molecules in both fibrinolysis and extracellular proteolysis. In the present study, an association of the TPA Alu I/D and PAI-1 4G/5G polymorphisms with MS was analyzed within the Genomic Network for Multiple Sclerosis (GENoMS). The GENoMS includes four populations (Croatian, Slovenian, Serbian, and Bosnian and Herzegovinian) sharing the same geographic location and a similar ethnic background. A total of 885 patients and 656 ethnically matched healthy blood donors with no history of MS in their families were genotyped using PCR-RFLP. TPA DD homozygosity was protective (OR = 0.79, 95% CI 0.63-0.99, P = 0.037) and PAI 5G5G was a risk factor for MS (OR = 1.30, 95% CI 1.01-1.66, P = 0.038). A significant effect of the genotype/carrier combination was detected in 5G5G/I carriers (OR = 1.39 95% CI 1.06-1.82, P = 0.017). We found a significantly harmful effect of the combination of the PAI-1 5G/5G genotype and TPA I allele on MS susceptibility, which indicates the importance of gene-gene interactions in complex diseases such as MS.
The Role of TPA I/D and PAI-1 4G/5G Polymorphisms in Multiple Sclerosis
Živković, Maja; Starčević Čizmarević, Nada; Lovrečić, Luca; Klupka-Sarić, Inge; Stanković, Aleksandra; Gašparović, Iva; Dinčić, Evica; Stojković, Ljiljana; Rudolf, Gorazd; Šega Jazbec, Saša; Perković, Olivio; Sinanović, Osman; Sepčić, Juraj; Kapović, Miljenko; Peterlin, Borut
2014-01-01
Background. Previous studies have shown impaired fibrinolysis in multiple sclerosis (MS) and implicated extracellular proteolytic enzymes as important factors in demyelinating neuroinflammatory disorders. Tissue-type plasminogen activator (t-PA) and its inhibitor (PAI-1) are key molecules in both fibrinolysis and extracellular proteolysis. In the present study, an association of the TPA Alu I/D and PAI-1 4G/5G polymorphisms with MS was analyzed within the Genomic Network for Multiple Sclerosis (GENoMS). Methods. The GENoMS includes four populations (Croatian, Slovenian, Serbian, and Bosnian and Herzegovinian) sharing the same geographic location and a similar ethnic background. A total of 885 patients and 656 ethnically matched healthy blood donors with no history of MS in their families were genotyped using PCR-RFLP. Results. TPA DD homozygosity was protective (OR = 0.79, 95% CI 0.63–0.99, P = 0.037) and PAI 5G5G was a risk factor for MS (OR = 1.30, 95% CI 1.01–1.66, P = 0.038). A significant effect of the genotype/carrier combination was detected in 5G5G/I carriers (OR = 1.39 95% CI 1.06–1.82, P = 0.017). Conclusions. We found a significantly harmful effect of the combination of the PAI-1 5G/5G genotype and TPA I allele on MS susceptibility, which indicates the importance of gene-gene interactions in complex diseases such as MS. PMID:24825926
Leoncio, Égle Thomaz; Souza, Sonia Regina Pereira de; Machado, José Lúcio Martins
2017-01-01
To demonstrate the importance of using the family genogram in pediatric consultation, as an analysis tool to evaluate the degradation of parental bonding and also violence against children. A qualitative study was conducted in 2011 wherein 63 children, aged between 2 and 6 years, enrolled in a slum nursery, was studied. In order to construct the genogram, data were collected in four stages: pediatric evaluation at nursery; interview with caregivers; interview with teachers; and interview with the nursery coordinator. The data about the families were used to construct the genograms with the aid of GenoPro®-2016 software. In order to evaluate the quality of bonding, the following items were included in the genograms: violence against children, drug addiction, neglect, mental disorder, type of relationship among family members. The evaluated children and their families generated 55 genograms. In 38 of them, functional family arrangements, and close or very close emotional ties were observed. In 17 cases, situations involving physical, emotional, or sexual violence against children were perceived. Among these, four represented extreme cases, with fraying parental bonding, and dysfunctional family arrangements. In these families, chemical addiction was prevalent among multiple members, as well as severe mental disorder, persistent physical and verbal abuse, and sexual abuse. The use of the genogram helps to identify at an early stage the degradation of parental bonding and violence against children, and when it is incorporated into the pediatric practice routine, it may contribute to the promotion of the comprehensive health care of the child, regardless of the presence of social vulnerability.
Sequence verification of synthetic DNA by assembly of sequencing reads
Wilson, Mandy L.; Cai, Yizhi; Hanlon, Regina; Taylor, Samantha; Chevreux, Bastien; Setubal, João C.; Tyler, Brett M.; Peccoud, Jean
2013-01-01
Gene synthesis attempts to assemble user-defined DNA sequences with base-level precision. Verifying the sequences of construction intermediates and the final product of a gene synthesis project is a critical part of the workflow, yet one that has received the least attention. Sequence validation is equally important for other kinds of curated clone collections. Ensuring that the physical sequence of a clone matches its published sequence is a common quality control step performed at least once over the course of a research project. GenoREAD is a web-based application that breaks the sequence verification process into two steps: the assembly of sequencing reads and the alignment of the resulting contig with a reference sequence. GenoREAD can determine if a clone matches its reference sequence. Its sophisticated reporting features help identify and troubleshoot problems that arise during the sequence verification process. GenoREAD has been experimentally validated on thousands of gene-sized constructs from an ORFeome project, and on longer sequences including whole plasmids and synthetic chromosomes. Comparing GenoREAD results with those from manual analysis of the sequencing data demonstrates that GenoREAD tends to be conservative in its diagnostic. GenoREAD is available at www.genoread.org. PMID:23042248
Zych, Konrad; Li, Yang; van der Velde, Joeri K; Joosen, Ronny V L; Ligterink, Wilco; Jansen, Ritsert C; Arends, Danny
2015-02-19
Genetic markers and maps are instrumental in quantitative trait locus (QTL) mapping in segregating populations. The resolution of QTL localization depends on the number of informative recombinations in the population and how well they are tagged by markers. Larger populations and denser marker maps are better for detecting and locating QTLs. Marker maps that are initially too sparse can be saturated or derived de novo from high-throughput omics data, (e.g. gene expression, protein or metabolite abundance). If these molecular phenotypes are affected by genetic variation due to a major QTL they will show a clear multimodal distribution. Using this information, phenotypes can be converted into genetic markers. The Pheno2Geno tool uses mixture modeling to select phenotypes and transform them into genetic markers suitable for construction and/or saturation of a genetic map. Pheno2Geno excludes candidate genetic markers that show evidence for multiple possibly epistatically interacting QTL and/or interaction with the environment, in order to provide a set of robust markers for follow-up QTL mapping. We demonstrate the use of Pheno2Geno on gene expression data of 370,000 probes in 148 A. thaliana recombinant inbred lines. Pheno2Geno is able to saturate the existing genetic map, decreasing the average distance between markers from 7.1 cM to 0.89 cM, close to the theoretical limit of 0.68 cM (with 148 individuals we expect a recombination every 100/148=0.68 cM); this pinpointed almost all of the informative recombinations in the population. The Pheno2Geno package makes use of genome-wide molecular profiling and provides a tool for high-throughput de novo map construction and saturation of existing genetic maps. Processing of the showcase dataset takes less than 30 minutes on an average desktop PC. Pheno2Geno improves QTL mapping results at no additional laboratory cost and with minimum computational effort. Its results are formatted for direct use in R/qtl, the leading R package for QTL studies. Pheno2Geno is freely available on CRAN under "GNU GPL v3". The Pheno2Geno package as well as the tutorial can also be found at: http://pheno2geno.nl .
Salazar, Ana M; Vivas, Jeilyn; Sánchez, Elda E; Rodríguez-Acosta, Alexis; Ibarra, Carlos; Gil, Amparo; Carvajal, Zoila; Girón, María E; Estrella, Amalid; Navarrete, Luis F; Guerrero, Belsy
2011-07-01
The coral snake Micrurus tener tener (Mtt) from the Elapidae family inhabits the southwestern United States and produces severe cases of envenomations. Although the majority of Mtt venom components are neurotoxins and phospholipase A₂s, this study demonstrated, by SDS-PAGE and molecular exclusion chromatography (MEC), that these venoms also contain high-molecular-weight proteins between 50 and 150 kDa that target the hemostatic system. The biological aspects of other Micrurus venoms were also studied, such as the LD₅₀s of Micrurus isozonus (from 0.52 to 0.61 mg/kg). A pool from these venoms presented a LD₅₀ of 0.57 mg/kg, Micrurus f. fulvius (Mff) and Mtt had LD₅₀s of 0.32 and 0.78 mg/kg, respectively. These venoms contained fibrino(geno)lytic activity, they inhibited platelet aggregation, as well as factor Xa and/or plasmin-like activities. M. isozonus venoms from different Venezuelan geographical regions inhibited ADP-induced platelet aggregation (from 50 to 68%). Micrurus tener tener venom from the United States was the most active with a 95.2% inhibitory effect. This venom showed thrombin-like activity on fibrinogen and human plasma. Fractions of Mtt showed fibrino(geno)lytic activity and inhibition on plasmin amidolytic activity. Several fractions degraded the fibrinogen Aα chains, and fractions F2 and F7 completely degraded both fibrinogen Aα and Bβ chains. To our knowledge, this is the first report on thrombin-like and fibrino(geno)lytic activity and plasmin or factor Xa inhibitors described in Micrurus venoms. Further purification and characterization of these Micrurus venom components could be of therapeutic use in the treatment of hemostatic disorders. Copyright © 2011 Elsevier Ltd. All rights reserved.
Hidrógeno neutro en la galaxia Fourcade-Figueroa.
NASA Astrophysics Data System (ADS)
Colomb, F. R.; Loiseau, N.; Testori, J. C.
The H I 21 cm line has been detected in the direction of the Fourcade-Figueroa Galaxy. This is a late-type galaxy seen almost edge-on with a velocity of 824 km s-1. The neutral hydrogen dimensions are found to be approximately twice its optical dimensions. The mass and other parameters of the galaxy are derived.
LINEA ALBA COLLAGEN ASSESSMENT IN MORBIDLY OBESE PATIENTS.
Grossi, João Vicente Machado; Nicola, Felipe Fernandes; Zepeda, Ivan Alberto; Becker, Martina; Trindade, Eduardo Neubarth; Diemen, Vinicius Von; Cavazzola, Leandro Totti; Trindade, Manoel Roberto Maciel
The evaluation of collagen in the abdominal wall has been increasingly studied because of the relevance on collagen in the healing process after laparotomy. To evaluate the amount of collagen in the linea alba of patients undergoing laparotomic bariatric surgery and comparing with non-obese cadavers. Were evaluated 88 samples of aponeurosis from abdominal linea alba of 44 obese patients (obesity group) and 44 non-obese cadavers (control group). The samples were collected in 2013 and 2104, and were sorted according to age (18-30, 31-45 and 46-60), gender, BMI, waist and cervical circumference, and subcutaneous tissue thickness. Material for biopsy was collected from the supraumbilical region of the linea alba for immunohistochemical analysis differentiating collagen type 1 and type 3 and the 1/3 ratio. Image-Pro Plus pixel counting software was used to measure the amount of collagen. The obesity group evidenced mean age 44.11±9.90 years; 18-30 age group had three (6.8%) obese individuals; 31-45 had 22 (50%) and 46-60 had 19 (43.1%). Females were present in 81.8% (n=36); BMI (kg/m²) was 48.81±6.5; waist circumference (cm) was 136.761±13.55; subcutaneous tissue thickness (cm) 4.873±0.916. Considering age groups, gender and BMI, there were statistical differences in all tests when compared with the cadavers. The amount of collagen in the linea alba above the umbilical region in the morbidly obese patients was smaller than in the non-obese cadavers in the same age group. A avaliação do colágeno na parede abdominal é cada vez mais estudada, em virtude da relevância dele no processo cicatricial após laparotomia. Avaliar a quantidade de colágeno na linha alba de pacientes submetidos à cirurgia bariátrica e compará-la com a de cadáveres não-obesos. Foram avaliados dois grupos com total de 88 amostras da aponeurose da linha alba abdominal, divididas em 44 de pacientes obesos (grupo obesidade) com indicação de cirurgia bariátrica e 44 de cadáveres não-obesos (grupo controle). As amostras foram retiradas da linha alba abdominal no período de 2013 a 2014 e inicialmente foram separadas conforme faixas etárias (18-30, 31-45 e 46-60), gênero, medidas de IMC, circunferência abdominal e cervical e espessura do subcutâneo do indivíduo. Foi coletado material para biópsia da linha alba supraumbilical para análise imunoistoquímica, diferenciando o colágeno tipo I e III e sua relação de tipo I/III. Utilizou-se o programa de contagem de pixels Image-Pro Plus(r), que mensurou a quantidade do colágeno. O grupo obesidade teve idade 44,11±9,90 anos, Na faixa etária de 18-30 anos foram incluídos três (6,8%) obesos; na de 31-45 anos 22 (50%) e na de 46-60 anos 19 (43,1%). O gênero feminino apresentou predomínio, com 36 (81,8%) pacientes. O IMC (kg/m²) foi de 48,81±6,5; a circunferência abdominal (cm) foi de 136,761±13,55; a espessura do subcutâneo (cm) foi de 4,873±0,916. A quantidade de colágeno tipo I foi de 134.683,3±206.657,4; a de colágeno tipo III foi de 413.137,2±283.656,1; a razão do colágeno tipo I/III foi 0,419±0,636. Considerando-se faixas de idade, gênero e IMC, foram constatadas diferenças estatísticas em todas as análises quando comparadas com às dos cadáveres. Os obesos mórbidos apresentaram quantidade de colágeno na linha alba supraumbilical menor que a do grupo controle de cadáveres não-obesos na mesma faixa etária.
Enhanced photo(geno)toxicity of demethylated chlorpromazine metabolites
DOE Office of Scientific and Technical Information (OSTI.GOV)
Palumbo, Fabrizio
Chlorpromazine (CPZ) is an anti-psychotic drug widely used to treat disorders such as schizophrenia or manic-depression. Unfortunately, CPZ exhibits undesirable side effects such as phototoxic and photoallergic reactions in humans. In general, the influence of drug metabolism on this type of reactions has not been previously considered in photosafety testing. Thus, the present work aims to investigate the possible photo(geno)toxic potential of drug metabolites, using CPZ as an established reference compound. In this case, the metabolites selected for the study are demethylchlorpromazine (DMCPZ), didemethylchlorpromazine (DDMCPZ) and chlorpromazine sulfoxide (CPZSO). The demethylated CPZ metabolites DMCPZ and DDMCPZ maintain identical chromophore tomore » the parent drug. In this work, it has been found that the nature of the aminoalkyl side chain modulates the hydrophobicity and the photochemical properties (for instance, the excited state lifetimes), but it does not change the photoreactivity pattern, which is characterized by reductive photodehalogenation, triggered by homolytic carbon-chlorine bond cleavage with formation of highly reactive aryl radical intermediates. Accordingly, these metabolites are phototoxic to cells, as revealed by the 3T3 NRU assay; their photo-irritation factors are even higher than that of CPZ. The same trend is observed in photogenotoxicity studies, both with isolated and with cellular DNA, where DMCPZ and DDMCPZ are more active than CPZ itself. In summary, side-chain demethylation of CPZ, as a consequence of Phase I biotransformation, does not result a photodetoxification. Instead, it leads to metabolites that exhibit in an even enhanced photo(geno)toxicity. - Highlights: • Demethylated CPZ metabolites are phototoxic to cells, as revealed by the NRU assay. • Single cell electrophoresis (Comet Assay) confirms the photodamage to cellular DNA. • DNA single strand breaks formation is observed on agarose gel electrophoresis. • Photochemical and EPR studies support generation of aryl radicals by C-Cl cleavage. • The aminoalkyl side chain of metabolites modulates the photo(geno)toxic potential.« less
2009-09-22
Verhoeven AJ: Prolonged maintenance of 2, 3- diphosphoglycerate acid and adenosine triphosphate in red blood cells during storage. Transfusion 2008...ABO blood group geno- type and factor VIII levels as independent risk factors for venous thromboembolism. Thromb Haemost 2005, 93(3):468-474. 41. Koch
The GenoChip: A New Tool for Genetic Anthropology
Elhaik, Eran; Greenspan, Elliott; Staats, Sean; Krahn, Thomas; Tyler-Smith, Chris; Xue, Yali; Tofanelli, Sergio; Francalacci, Paolo; Cucca, Francesco; Pagani, Luca; Jin, Li; Li, Hui; Schurr, Theodore G.; Greenspan, Bennett; Spencer Wells, R.
2013-01-01
The Genographic Project is an international effort aimed at charting human migratory history. The project is nonprofit and nonmedical, and, through its Legacy Fund, supports locally led efforts to preserve indigenous and traditional cultures. Although the first phase of the project was focused on uniparentally inherited markers on the Y-chromosome and mitochondrial DNA (mtDNA), the current phase focuses on markers from across the entire genome to obtain a more complete understanding of human genetic variation. Although many commercial arrays exist for genome-wide single-nucleotide polymorphism (SNP) genotyping, they were designed for medical genetic studies and contain medically related markers that are inappropriate for global population genetic studies. GenoChip, the Genographic Project’s new genotyping array, was designed to resolve these issues and enable higher resolution research into outstanding questions in genetic anthropology. The GenoChip includes ancestry informative markers obtained for over 450 human populations, an ancient human (Saqqaq), and two archaic hominins (Neanderthal and Denisovan) and was designed to identify all known Y-chromosome and mtDNA haplogroups. The chip was carefully vetted to avoid inclusion of medically relevant markers. To demonstrate its capabilities, we compared the FST distributions of GenoChip SNPs to those of two commercial arrays. Although all arrays yielded similarly shaped (inverse J) FST distributions, the GenoChip autosomal and X-chromosomal distributions had the highest mean FST, attesting to its ability to discern subpopulations. The chip performances are illustrated in a principal component analysis for 14 worldwide populations. In summary, the GenoChip is a dedicated genotyping platform for genetic anthropology. With an unprecedented number of approximately 12,000 Y-chromosomal and approximately 3,300 mtDNA SNPs and over 130,000 autosomal and X-chromosomal SNPs without any known health, medical, or phenotypic relevance, the GenoChip is a useful tool for genetic anthropology and population genetics. PMID:23666864
The GenoChip: a new tool for genetic anthropology.
Elhaik, Eran; Greenspan, Elliott; Staats, Sean; Krahn, Thomas; Tyler-Smith, Chris; Xue, Yali; Tofanelli, Sergio; Francalacci, Paolo; Cucca, Francesco; Pagani, Luca; Jin, Li; Li, Hui; Schurr, Theodore G; Greenspan, Bennett; Spencer Wells, R
2013-01-01
The Genographic Project is an international effort aimed at charting human migratory history. The project is nonprofit and nonmedical, and, through its Legacy Fund, supports locally led efforts to preserve indigenous and traditional cultures. Although the first phase of the project was focused on uniparentally inherited markers on the Y-chromosome and mitochondrial DNA (mtDNA), the current phase focuses on markers from across the entire genome to obtain a more complete understanding of human genetic variation. Although many commercial arrays exist for genome-wide single-nucleotide polymorphism (SNP) genotyping, they were designed for medical genetic studies and contain medically related markers that are inappropriate for global population genetic studies. GenoChip, the Genographic Project's new genotyping array, was designed to resolve these issues and enable higher resolution research into outstanding questions in genetic anthropology. The GenoChip includes ancestry informative markers obtained for over 450 human populations, an ancient human (Saqqaq), and two archaic hominins (Neanderthal and Denisovan) and was designed to identify all known Y-chromosome and mtDNA haplogroups. The chip was carefully vetted to avoid inclusion of medically relevant markers. To demonstrate its capabilities, we compared the FST distributions of GenoChip SNPs to those of two commercial arrays. Although all arrays yielded similarly shaped (inverse J) FST distributions, the GenoChip autosomal and X-chromosomal distributions had the highest mean FST, attesting to its ability to discern subpopulations. The chip performances are illustrated in a principal component analysis for 14 worldwide populations. In summary, the GenoChip is a dedicated genotyping platform for genetic anthropology. With an unprecedented number of approximately 12,000 Y-chromosomal and approximately 3,300 mtDNA SNPs and over 130,000 autosomal and X-chromosomal SNPs without any known health, medical, or phenotypic relevance, the GenoChip is a useful tool for genetic anthropology and population genetics.
Rule-Based Design of Plant Expression Vectors Using GenoCAD.
Coll, Anna; Wilson, Mandy L; Gruden, Kristina; Peccoud, Jean
2015-01-01
Plant synthetic biology requires software tools to assist on the design of complex multi-genic expression plasmids. Here a vector design strategy to express genes in plants is formalized and implemented as a grammar in GenoCAD, a Computer-Aided Design software for synthetic biology. It includes a library of plant biological parts organized in structural categories and a set of rules describing how to assemble these parts into large constructs. Rules developed here are organized and divided into three main subsections according to the aim of the final construct: protein localization studies, promoter analysis and protein-protein interaction experiments. The GenoCAD plant grammar guides the user through the design while allowing users to customize vectors according to their needs. Therefore the plant grammar implemented in GenoCAD will help plant biologists take advantage of methods from synthetic biology to design expression vectors supporting their research projects.
pyGeno: A Python package for precision medicine and proteogenomics.
Daouda, Tariq; Perreault, Claude; Lemieux, Sébastien
2016-01-01
pyGeno is a Python package mainly intended for precision medicine applications that revolve around genomics and proteomics. It integrates reference sequences and annotations from Ensembl, genomic polymorphisms from the dbSNP database and data from next-gen sequencing into an easy to use, memory-efficient and fast framework, therefore allowing the user to easily explore subject-specific genomes and proteomes. Compared to a standalone program, pyGeno gives the user access to the complete expressivity of Python, a general programming language. Its range of application therefore encompasses both short scripts and large scale genome-wide studies.
pyGeno: A Python package for precision medicine and proteogenomics
Daouda, Tariq; Perreault, Claude; Lemieux, Sébastien
2016-01-01
pyGeno is a Python package mainly intended for precision medicine applications that revolve around genomics and proteomics. It integrates reference sequences and annotations from Ensembl, genomic polymorphisms from the dbSNP database and data from next-gen sequencing into an easy to use, memory-efficient and fast framework, therefore allowing the user to easily explore subject-specific genomes and proteomes. Compared to a standalone program, pyGeno gives the user access to the complete expressivity of Python, a general programming language. Its range of application therefore encompasses both short scripts and large scale genome-wide studies. PMID:27785359
Durand, Patrick; Labarre, Laurent; Meil, Alain; Divo, Jean-Louis; Vandenbrouck, Yves; Viari, Alain; Wojcik, Jérôme
2006-01-17
A large variety of biological data can be represented by graphs. These graphs can be constructed from heterogeneous data coming from genomic and post-genomic technologies, but there is still need for tools aiming at exploring and analysing such graphs. This paper describes GenoLink, a software platform for the graphical querying and exploration of graphs. GenoLink provides a generic framework for representing and querying data graphs. This framework provides a graph data structure, a graph query engine, allowing to retrieve sub-graphs from the entire data graph, and several graphical interfaces to express such queries and to further explore their results. A query consists in a graph pattern with constraints attached to the vertices and edges. A query result is the set of all sub-graphs of the entire data graph that are isomorphic to the pattern and satisfy the constraints. The graph data structure does not rely upon any particular data model but can dynamically accommodate for any user-supplied data model. However, for genomic and post-genomic applications, we provide a default data model and several parsers for the most popular data sources. GenoLink does not require any programming skill since all operations on graphs and the analysis of the results can be carried out graphically through several dedicated graphical interfaces. GenoLink is a generic and interactive tool allowing biologists to graphically explore various sources of information. GenoLink is distributed either as a standalone application or as a component of the Genostar/Iogma platform. Both distributions are free for academic research and teaching purposes and can be requested at academy@genostar.com. A commercial licence form can be obtained for profit company at info@genostar.com. See also http://www.genostar.org.
Durand, Patrick; Labarre, Laurent; Meil, Alain; Divo1, Jean-Louis; Vandenbrouck, Yves; Viari, Alain; Wojcik, Jérôme
2006-01-01
Background A large variety of biological data can be represented by graphs. These graphs can be constructed from heterogeneous data coming from genomic and post-genomic technologies, but there is still need for tools aiming at exploring and analysing such graphs. This paper describes GenoLink, a software platform for the graphical querying and exploration of graphs. Results GenoLink provides a generic framework for representing and querying data graphs. This framework provides a graph data structure, a graph query engine, allowing to retrieve sub-graphs from the entire data graph, and several graphical interfaces to express such queries and to further explore their results. A query consists in a graph pattern with constraints attached to the vertices and edges. A query result is the set of all sub-graphs of the entire data graph that are isomorphic to the pattern and satisfy the constraints. The graph data structure does not rely upon any particular data model but can dynamically accommodate for any user-supplied data model. However, for genomic and post-genomic applications, we provide a default data model and several parsers for the most popular data sources. GenoLink does not require any programming skill since all operations on graphs and the analysis of the results can be carried out graphically through several dedicated graphical interfaces. Conclusion GenoLink is a generic and interactive tool allowing biologists to graphically explore various sources of information. GenoLink is distributed either as a standalone application or as a component of the Genostar/Iogma platform. Both distributions are free for academic research and teaching purposes and can be requested at academy@genostar.com. A commercial licence form can be obtained for profit company at info@genostar.com. See also . PMID:16417636
Czar, Michael J; Cai, Yizhi; Peccoud, Jean
2009-07-01
Chemical synthesis of custom DNA made to order calls for software streamlining the design of synthetic DNA sequences. GenoCAD (www.genocad.org) is a free web-based application to design protein expression vectors, artificial gene networks and other genetic constructs composed of multiple functional blocks called genetic parts. By capturing design strategies in grammatical models of DNA sequences, GenoCAD guides the user through the design process. By successively clicking on icons representing structural features or actual genetic parts, complex constructs composed of dozens of functional blocks can be designed in a matter of minutes. GenoCAD automatically derives the construct sequence from its comprehensive libraries of genetic parts. Upon completion of the design process, users can download the sequence for synthesis or further analysis. Users who elect to create a personal account on the system can customize their workspace by creating their own parts libraries, adding new parts to the libraries, or reusing designs to quickly generate sets of related constructs.
Genomes as geography: using GIS technology to build interactive genome feature maps
Dolan, Mary E; Holden, Constance C; Beard, M Kate; Bult, Carol J
2006-01-01
Background Many commonly used genome browsers display sequence annotations and related attributes as horizontal data tracks that can be toggled on and off according to user preferences. Most genome browsers use only simple keyword searches and limit the display of detailed annotations to one chromosomal region of the genome at a time. We have employed concepts, methodologies, and tools that were developed for the display of geographic data to develop a Genome Spatial Information System (GenoSIS) for displaying genomes spatially, and interacting with genome annotations and related attribute data. In contrast to the paradigm of horizontally stacked data tracks used by most genome browsers, GenoSIS uses the concept of registered spatial layers composed of spatial objects for integrated display of diverse data. In addition to basic keyword searches, GenoSIS supports complex queries, including spatial queries, and dynamically generates genome maps. Our adaptation of the geographic information system (GIS) model in a genome context supports spatial representation of genome features at multiple scales with a versatile and expressive query capability beyond that supported by existing genome browsers. Results We implemented an interactive genome sequence feature map for the mouse genome in GenoSIS, an application that uses ArcGIS, a commercially available GIS software system. The genome features and their attributes are represented as spatial objects and data layers that can be toggled on and off according to user preferences or displayed selectively in response to user queries. GenoSIS supports the generation of custom genome maps in response to complex queries about genome features based on both their attributes and locations. Our example application of GenoSIS to the mouse genome demonstrates the powerful visualization and query capability of mature GIS technology applied in a novel domain. Conclusion Mapping tools developed specifically for geographic data can be exploited to display, explore and interact with genome data. The approach we describe here is organism independent and is equally useful for linear and circular chromosomes. One of the unique capabilities of GenoSIS compared to existing genome browsers is the capacity to generate genome feature maps dynamically in response to complex attribute and spatial queries. PMID:16984652
Colvin, C J; Leon, N; Wills, C; van Niekerk, M; Bissell, K; Naidoo, P
2015-11-01
Lack of innovation in diagnostics has contributed to tuberculosis (TB) remaining a global health challenge. It is critical to understand how new diagnostic technologies are translated into policies and how these are implemented. To examine policy transfer for two rapid molecular diagnostic tests, GenoType(®) MDRTBplus and Xpert(®) MTB/RIF, to understand policy development, uptake and implementation in South Africa. A policy transfer analysis framework integrating the key dimensions of policy transfer into one coherent model was used. Two phases of key informant interviews were undertaken with a wide range of stakeholders. Both tests were developed through innovative partnerships and responded to urgent public health needs. GenoType was introduced through a process that was more inclusive than that for Xpert. National policy and planning processes were opaque for both tests. Their implementation, maintenance and expansion suffered from poor communication and coordination, insufficient attention to resource implications, technical challenges and a lack of broader health systems thinking. Our analysis identified the risks and benefits of partnerships for technological innovation, the complex intersections between global and national actors and the impact of health systems on policy transfer, and the risks of rescue- and technology-focused thinking in addressing public health challenges.
Naidoo, Pren; van Niekerk, Margaret; du Toit, Elizabeth; Beyers, Nulda; Leon, Natalie
2015-10-28
Although new molecular diagnostic tests such as GenoType MTBDRplus and Xpert® MTB/RIF have reduced multidrug-resistant tuberculosis (MDR-TB) treatment initiation times, patients' experiences of diagnosis and treatment initiation are not known. This study aimed to explore and compare MDR-TB patients' experiences of their diagnostic and treatment initiation pathway in GenoType MTBDRplus and Xpert® MTB/RIF-based diagnostic algorithms. The study was undertaken in Cape Town, South Africa where primary health-care services provided free TB diagnosis and treatment. A smear, culture and GenoType MTBDRplus diagnostic algorithm was used in 2010, with Xpert® MTB/RIF phased in from 2011-2013. Participants diagnosed in each algorithm at four facilities were purposively sampled, stratifying by age, gender and MDR-TB risk profiles. We conducted in-depth qualitative interviews using a semi-structured interview guide. Through constant comparative analysis we induced common and divergent themes related to symptom recognition, health-care access, testing for MDR-TB and treatment initiation within and between groups. Data were triangulated with clinical information and health visit data from a structured questionnaire. We identified both enablers and barriers to early MDR-TB diagnosis and treatment. Half the patients had previously been treated for TB; most recognised recurring symptoms and reported early health-seeking. Those who attributed symptoms to other causes delayed health-seeking. Perceptions of poor public sector services were prevalent and may have contributed both to deferred health-seeking and to patient's use of the private sector, contributing to delays. However, once on treatment, most patients expressed satisfaction with public sector care. Two patients in the Xpert® MTB/RIF-based algorithm exemplified its potential to reduce delays, commencing MDR-TB treatment within a week of their first health contact. However, most patients in both algorithms experienced substantial delays. Avoidable health system delays resulted from providers not testing for TB at initial health contact, non-adherence to testing algorithms, results not being available and failure to promptly recall patients with positive results. Whilst the introduction of rapid tests such as Xpert® MTB/RIF can expedite MDR-TB diagnosis and treatment initiation, the full benefits are unlikely to be realised without reducing delays in health-seeking and addressing the structural barriers present in the health-care system.
Brown, Ted; Williams, Brett; Etherington, Jamie
2016-12-01
This study investigated whether occupational therapy students' emotional intelligence and personality traits are predictive of specific aspects of their fieldwork performance. A total of 114 second and third year undergraduate occupational therapy students (86.6% response rate) completed the Genos Emotional Intelligence Inventory (Genos EI) and the Ten-Item Personality Inventory (TIPI). Fieldwork performance scores were obtained from the Student Practice Evaluation Form Revised (SPEF-R). Linear regressions were completed with the SPEF-R domains being the dependent variables and the Genos EI and TIPI factors being the independent variables. Regression analysis results revealed that the Genos EI subscales of Emotional Management of Others (EMO), Emotional Awareness of Others (EAO), Emotional Expression (EEX) and Emotional Reasoning (ERE) were significant predictors of various domains of students' fieldwork performance. EAO and ERE were significant predictors of students' Communication Skills accounting for 4.6% of its variance. EMO, EAO, EEX and ERE were significant predictors of students' Documentation Skills explaining 6.8% of its variance. EMO was a significant predictor of students' Professional Behaviour accounting for 3.2% of its variance. No TIPI factors were found to be significant predictors of the SPEF-R domains. Occupational therapy students' emotional intelligence was a significant predictor of components of their fieldwork performance while students' personality traits were not. The convenience sampling approach used, small sample size recruited and potential issue of social desirability of the self-reported Genos EI and TIPI data are acknowledged as study limitations. It is recommended that other studies be completed to investigate if any other relevant constructs or factors are predictive of occupational therapy students' fieldwork performance. Copyright © 2016 John Wiley & Sons, Ltd. Copyright © 2016 John Wiley & Sons, Ltd.
GenoCAD Plant Grammar to Design Plant Expression Vectors for Promoter Analysis.
Coll, Anna; Wilson, Mandy L; Gruden, Kristina; Peccoud, Jean
2016-01-01
With the rapid advances in prediction tools for discovery of new promoters and their cis-elements, there is a need to improve plant expression methodologies in order to facilitate a high-throughput functional validation of these promoters in planta. The promoter-reporter analysis is an indispensible approach for characterization of plant promoters. It requires the design of complex plant expression vectors, which can be challenging. Here, we describe the use of a plant grammar implemented in GenoCAD that will allow the users to quickly design constructs for promoter analysis experiments but also for other in planta functional studies. The GenoCAD plant grammar includes a library of plant biological parts organized in structural categories to facilitate their use and management and a set of rules that guides the process of assembling these biological parts into large constructs.
GenoQuery: a new querying module for functional annotation in a genomic warehouse
Lemoine, Frédéric; Labedan, Bernard; Froidevaux, Christine
2008-01-01
Motivation: We have to cope with both a deluge of new genome sequences and a huge amount of data produced by high-throughput approaches used to exploit these genomic features. Crossing and comparing such heterogeneous and disparate data will help improving functional annotation of genomes. This requires designing elaborate integration systems such as warehouses for storing and querying these data. Results: We have designed a relational genomic warehouse with an original multi-layer architecture made of a databases layer and an entities layer. We describe a new querying module, GenoQuery, which is based on this architecture. We use the entities layer to define mixed queries. These mixed queries allow searching for instances of biological entities and their properties in the different databases, without specifying in which database they should be found. Accordingly, we further introduce the central notion of alternative queries. Such queries have the same meaning as the original mixed queries, while exploiting complementarities yielded by the various integrated databases of the warehouse. We explain how GenoQuery computes all the alternative queries of a given mixed query. We illustrate how useful this querying module is by means of a thorough example. Availability: http://www.lri.fr/~lemoine/GenoQuery/ Contact: chris@lri.fr, lemoine@lri.fr PMID:18586731
Duval, Kristin; Aubin, Rémy A; Elliott, James; Gorn-Hondermann, Ivan; Birnboim, H Chaim; Jonker, Derek; Fourney, Ron M; Frégeau, Chantal J
2010-02-01
Archival tissue preserved in fixative constitutes an invaluable resource for histological examination, molecular diagnostic procedures and for DNA typing analysis in forensic investigations. However, available material is often limited in size and quantity. Moreover, recovery of DNA is often severely compromised by the presence of covalent DNA-protein cross-links generated by formalin, the most prevalent fixative. We describe the evaluation of buffer formulations, sample lysis regimens and DNA recovery strategies and define optimized manual and automated procedures for the extraction of high quality DNA suitable for molecular diagnostics and genotyping. Using a 3-step enzymatic digestion protocol carried out in the absence of dithiothreitol, we demonstrate that DNA can be efficiently released from cells or tissues preserved in buffered formalin or the alcohol-based fixative GenoFix. This preparatory procedure can then be integrated to traditional phenol/chloroform extraction, a modified manual DNA IQ or automated DNA IQ/Te-Shake-based extraction in order to recover DNA for downstream applications. Quantitative recovery of high quality DNA was best achieved from specimens archived in GenoFix and extracted using magnetic bead capture.
Geno- and cytotoxicity induced on Cyprinus carpio by aluminum, iron, mercury and mixture thereof.
Gómez-Oliván, Leobardo Manuel; Mendoza-Zenil, Youssef Paolo; SanJuan-Reyes, Nely; Galar-Martínez, Marcela; Ramírez-Durán, Ninfa; Rodríguez Martín-Doimeadios, Rosa Del Carmen; Rodríguez-Fariñas, Nuria; Islas-Flores, Hariz; Elizalde-Velázquez, Armando; García-Medina, Sandra; Pérez-Pastén Borja, Ricardo
2017-01-01
Metals such as Al, Fe and Hg are used in diverse anthropogenic activities. Their presence in water bodies is due mainly to domestic, agricultural and industrial wastewater discharges and constitutes a hazard for the organisms inhabiting these environments. The present study aimed to evaluate geno- and cytotoxicity induced by Al, Fe, Hg and the mixture of these metals on blood of the common carp Cyprinus carpio. Specimens were exposed to the permissible limits in water for human use and consumption according to the pertinent official Mexican norm [official Mexican norm NOM-127-SSA1-1994] Al (0.2mgL -1 ), Fe (0.3mgL -1 ), Hg (0.001mgL -1 ) and their mixture for 12, 24, 48, 72 and 96h. Biomarkers of genotoxicity (comet assay and micronucleus test) and cytotoxicity (caspase-3 activity and TUNEL assay) were evaluated. Significant increases relative to the control group (p<0.05) were observed in all biomarkers at all exposure times in all test systems; however, damage was greater when the metals were present as a mixture. Furthermore, correlations between metal concentrations and biomarkers of geno- and cytotoxicity were found only at certain exposure times. In conclusion, Al, Fe, Hg and the mixture of these metals induce geno- and cytotoxicity on blood of C. carpio. Copyright © 2016 Elsevier Inc. All rights reserved.
GenoCore: A simple and fast algorithm for core subset selection from large genotype datasets.
Jeong, Seongmun; Kim, Jae-Yoon; Jeong, Soon-Chun; Kang, Sung-Taeg; Moon, Jung-Kyung; Kim, Namshin
2017-01-01
Selecting core subsets from plant genotype datasets is important for enhancing cost-effectiveness and to shorten the time required for analyses of genome-wide association studies (GWAS), and genomics-assisted breeding of crop species, etc. Recently, a large number of genetic markers (>100,000 single nucleotide polymorphisms) have been identified from high-density single nucleotide polymorphism (SNP) arrays and next-generation sequencing (NGS) data. However, there is no software available for picking out the efficient and consistent core subset from such a huge dataset. It is necessary to develop software that can extract genetically important samples in a population with coherence. We here present a new program, GenoCore, which can find quickly and efficiently the core subset representing the entire population. We introduce simple measures of coverage and diversity scores, which reflect genotype errors and genetic variations, and can help to select a sample rapidly and accurately for crop genotype dataset. Comparison of our method to other core collection software using example datasets are performed to validate the performance according to genetic distance, diversity, coverage, required system resources, and the number of selected samples. GenoCore selects the smallest, most consistent, and most representative core collection from all samples, using less memory with more efficient scores, and shows greater genetic coverage compared to the other software tested. GenoCore was written in R language, and can be accessed online with an example dataset and test results at https://github.com/lovemun/Genocore.
Parmeggiani, Francesco; Barbaro, Vanessa; De Nadai, Katia; Lavezzo, Enrico; Toppo, Stefano; Chizzolini, Marzio; Palù, Giorgio; Parolin, Cristina; Di Iorio, Enzo
2016-01-01
The aim of this study was to describe a new pathogenic variant in the mutational hot spot exon ORF15 of retinitis pigmentosa GTPase regulator (RPGR) gene within an Italian family with X-linked retinitis pigmentosa (RP), detailing its distinctive genotype-phenotype correlation with pathologic myopia (PM). All members of this RP-PM family underwent a complete ophthalmic examination. The entire open reading frames of RPGR and retinitis pigmentosa 2 genes were analyzed by Sanger sequencing. A novel frame-shift mutation in exon ORF15 of RPGR gene (c.2091_2092insA; p.A697fs) was identified as hemizygous variant in the male proband with RP, and as heterozygous variant in the females of this pedigree who invariably exhibited symmetrical PM in both eyes. The c.2091_2092insA mutation coherently co-segregated with the observed phenotypes. These findings expand the spectrum of X-linked RP variants. Interestingly, focusing on Caucasian ethnicity, just three RPGR mutations are hitherto reported in RP-PM families: one of these is located in exon ORF15, but none appears to be characterized by a high penetrance of PM trait as observed in the present, relatively small, pedigree. The geno-phenotypic attributes of this heterozygosity suggest that gain-of-function mechanism could give rise to PM via a degenerative cell-cell remodeling of the retinal structures. PMID:27995965
Mayra, Pastore R.; Rosalina, Villalón L.; López, Gladys; Iruretagoyena, Jesús; Magness, Ronald
2015-01-01
Resumen El estrógeno y los receptores estrogénicos clásicos (REs), RE-α y RE-β, han demostrado ser parcialmente responsable por las adaptaciones endoteliales uterinas durante el embarazo al corto y largo plazo. Las diferencias moleculares y estructurales, junto con los diferentes efectos causados por estos receptores en las células y los tejidos, sugieren que su función varía dependiendo de la manera en la cual el estrógeno se comunica con sus receptores. En ésta revisión bibliográfica se discuten la función del estrógeno y sus receptores clásicos en las adaptaciones cardiovasculares durante el embarazo y la expresión de los Res in vivo e in vitro en el endotelio de la arteria uterina durante el ciclo ovárico y el embarazo, a la vez comparado con la expresión en endotelio arterial de tejidos reproductivos y no reproductivos. Estos temas integran el conocimiento actual de este amplio campo científico con interpretaciones e hipótesis diversas relacionadas con los efectos estrogénicos mediados bien sea por uno o los dos REs. Esta revisión también incluye la relación con las adaptaciones vasodilatadoras y angiogénicas requeridas para modular el dramático incremento fisiológico en la perfusión útero-placentaria observada durante un embarazo normal. PMID:26113750
La interacción de estrellas WN con el medio circundante
NASA Astrophysics Data System (ADS)
Arnal, M.; Cappa, C.; Rizzo, J. R.; Cichovolski, S.
Se presentan resultados preliminares de un estudio de la distribución del hidrógeno neutro en los alrededores de estrellas WR de la serie del nitrógeno. Los datos observacionales de la línea de 21 cm provienen de un relevamineto de baja resolución angular (36'), así como de observaciones de resolución angular intermedia (9') tomadas con el radiotelescopio de Effelsberg. Este análisis ha permitido detectar cavidades y envolturas de H I en expansión vinculadas a las estrellas que componen la muestra.
Döring, Matthias; Borrego, Pedro; Büch, Joachim; Martins, Andreia; Friedrich, Georg; Camacho, Ricardo Jorge; Eberle, Josef; Kaiser, Rolf; Lengauer, Thomas; Taveira, Nuno; Pfeifer, Nico
2016-12-20
CCR5-coreceptor antagonists can be used for treating HIV-2 infected individuals. Before initiating treatment with coreceptor antagonists, viral coreceptor usage should be determined to ensure that the virus can use only the CCR5 coreceptor (R5) and cannot evade the drug by using the CXCR4 coreceptor (X4-capable). However, until now, no online tool for the genotypic identification of HIV-2 coreceptor usage had been available. Furthermore, there is a lack of knowledge on the determinants of HIV-2 coreceptor usage. Therefore, we developed a data-driven web service for the prediction of HIV-2 coreceptor usage from the V3 loop of the HIV-2 glycoprotein and used the tool to identify novel discriminatory features of X4-capable variants. Using 10 runs of tenfold cross validation, we selected a linear support vector machine (SVM) as the model for geno2pheno[coreceptor-hiv2], because it outperformed the other SVMs with an area under the ROC curve (AUC) of 0.95. We found that SVMs were highly accurate in identifying HIV-2 coreceptor usage, attaining sensitivities of 73.5% and specificities of 96% during tenfold nested cross validation. The predictive performance of SVMs was not significantly different (p value 0.37) from an existing rules-based approach. Moreover, geno2pheno[coreceptor-hiv2] achieved a predictive accuracy of 100% and outperformed the existing approach on an independent data set containing nine new isolates with corresponding phenotypic measurements of coreceptor usage. geno2pheno[coreceptor-hiv2] could not only reproduce the established markers of CXCR4-usage, but also revealed novel markers: the substitutions 27K, 15G, and 8S were significantly predictive of CXCR4 usage. Furthermore, SVMs trained on the amino-acid sequences of the V1 and V2 loops were also quite accurate in predicting coreceptor usage (AUCs of 0.84 and 0.65, respectively). In this study, we developed geno2pheno[coreceptor-hiv2], the first online tool for the prediction of HIV-2 coreceptor usage from the V3 loop. Using our method, we identified novel amino-acid markers of X4-capable variants in the V3 loop and found that HIV-2 coreceptor usage is also influenced by the V1/V2 region. The tool can aid clinicians in deciding whether coreceptor antagonists such as maraviroc are a treatment option and enables epidemiological studies investigating HIV-2 coreceptor usage. geno2pheno[coreceptor-hiv2] is freely available at http://coreceptor-hiv2.geno2pheno.org .
GenoMycDB: a database for comparative analysis of mycobacterial genes and genomes.
Catanho, Marcos; Mascarenhas, Daniel; Degrave, Wim; Miranda, Antonio Basílio de
2006-03-31
Several databases and computational tools have been created with the aim of organizing, integrating and analyzing the wealth of information generated by large-scale sequencing projects of mycobacterial genomes and those of other organisms. However, with very few exceptions, these databases and tools do not allow for massive and/or dynamic comparison of these data. GenoMycDB (http://www.dbbm.fiocruz.br/GenoMycDB) is a relational database built for large-scale comparative analyses of completely sequenced mycobacterial genomes, based on their predicted protein content. Its central structure is composed of the results obtained after pair-wise sequence alignments among all the predicted proteins coded by the genomes of six mycobacteria: Mycobacterium tuberculosis (strains H37Rv and CDC1551), M. bovis AF2122/97, M. avium subsp. paratuberculosis K10, M. leprae TN, and M. smegmatis MC2 155. The database stores the computed similarity parameters of every aligned pair, providing for each protein sequence the predicted subcellular localization, the assigned cluster of orthologous groups, the features of the corresponding gene, and links to several important databases. Tables containing pairs or groups of potential homologs between selected species/strains can be produced dynamically by user-defined criteria, based on one or multiple sequence similarity parameters. In addition, searches can be restricted according to the predicted subcellular localization of the protein, the DNA strand of the corresponding gene and/or the description of the protein. Massive data search and/or retrieval are available, and different ways of exporting the result are offered. GenoMycDB provides an on-line resource for the functional classification of mycobacterial proteins as well as for the analysis of genome structure, organization, and evolution.
Enfermedad diarreica aguda por Escherichia coli patógenas en Colombia
Gómez-Duarte, Oscar G.
2014-01-01
Resumen Las cepas de E. coli patógenas intestinales son causas importantes de la enfermedad diarreica aguda (EDA) en niños menores de 5 años en América Latina, África y Asia y están asociadas a alta mortalidad en niños en las comunidades más pobres de África y el Sudeste Asiático. Estudios sobre el papel de las E. coli patógenas intestinales en la EDA infantil en Colombia y otros países de América Latina son limitados debido a la carencia de ensayos para detección de estos patógenos en los laboratorios clínicos de centros de salud. Estudios recientes han reportado la detección de E. coli patógenas intestinales en Colombia, siendo la E. coli enterotoxigénica la cepa más frecuentemente asociada a diarrea en niños menores de 5 años. Otros patógenos detectados en estos pacientes incluyen las E. coli enteroagregativa, enteropatógena, productora de toxina Shiga, y de adherencia difusa. Con base en estudios que reportan la presencia de E. coli productora de toxina Shiga y E. coli enteroagregativa en carnes y vegetales en supermercados, se cree que productos alimentarios contaminados contribuyen a la transmisión de estos patógenos y a la infección del huésped susceptible. Más estudios son necesarios para evaluar los mecanismos de transmisión, el impacto en la epidemiologia de la EDA, y las pautas de manejo y prevención de estos patógenos que afectan la población pediátrica en Colombia. PMID:25491457
Recordon-Pinson, Patricia; Soulié, Cathia; Flandre, Philippe; Descamps, Diane; Lazrek, Mouna; Charpentier, Charlotte; Montes, Brigitte; Trabaud, Mary-Anne; Cottalorda, Jacqueline; Schneider, Véronique; Morand-Joubert, Laurence; Tamalet, Catherine; Desbois, Delphine; Macé, Muriel; Ferré, Virginie; Vabret, Astrid; Ruffault, Annick; Pallier, Coralie; Raymond, Stéphanie; Izopet, Jacques; Reynes, Jacques; Marcelin, Anne-Geneviève; Masquelier, Bernard
2010-08-01
Genotypic algorithms for prediction of HIV-1 coreceptor usage need to be evaluated in a clinical setting. We aimed at studying (i) the correlation of genotypic prediction of coreceptor use in comparison with a phenotypic assay and (ii) the relationship between genotypic prediction of coreceptor use at baseline and the virological response (VR) to a therapy including maraviroc (MVC). Antiretroviral-experienced patients were included in the MVC Expanded Access Program if they had an R5 screening result with Trofile (Monogram Biosciences). V3 loop sequences were determined at screening, and coreceptor use was predicted using 13 genotypic algorithms or combinations of algorithms. Genotypic predictions were compared to Trofile; dual or mixed (D/M) variants were considered as X4 variants. Both genotypic and phenotypic results were obtained for 189 patients at screening, with 54 isolates scored as X4 or D/M and 135 scored as R5 with Trofile. The highest sensitivity (59.3%) for detection of X4 was obtained with the Geno2pheno algorithm, with a false-positive rate set up at 10% (Geno2pheno10). In the 112 patients receiving MVC, a plasma viral RNA load of <50 copies/ml was obtained in 68% of cases at month 6. In multivariate analysis, the prediction of the X4 genotype at baseline with the Geno2pheno10 algorithm including baseline viral load and CD4 nadir was independently associated with a worse VR at months 1 and 3. The baseline weighted genotypic sensitivity score was associated with VR at month 6. There were strong arguments in favor of using genotypic coreceptor use assays for determining which patients would respond to CCR5 antagonist.
GenoMatrix: A Software Package for Pedigree-Based and Genomic Prediction Analyses on Complex Traits.
Nazarian, Alireza; Gezan, Salvador Alejandro
2016-07-01
Genomic and pedigree-based best linear unbiased prediction methodologies (G-BLUP and P-BLUP) have proven themselves efficient for partitioning the phenotypic variance of complex traits into its components, estimating the individuals' genetic merits, and predicting unobserved (or yet-to-be observed) phenotypes in many species and fields of study. The GenoMatrix software, presented here, is a user-friendly package to facilitate the process of using genome-wide marker data and parentage information for G-BLUP and P-BLUP analyses on complex traits. It provides users with a collection of applications which help them on a set of tasks from performing quality control on data to constructing and manipulating the genomic and pedigree-based relationship matrices and obtaining their inverses. Such matrices will be then used in downstream analyses by other statistical packages. The package also enables users to obtain predicted values for unobserved individuals based on the genetic values of observed related individuals. GenoMatrix is available to the research community as a Windows 64bit executable and can be downloaded free of charge at: http://compbio.ufl.edu/software/genomatrix/. © The American Genetic Association. 2016. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.
Mayra, Pastore R.; Rosalina, Villalón L.; López, Gladys; Iruretagoyena, Jesús; Magness, Ronald
2015-01-01
Resumen El embarazo está marcado por cambios y adaptaciones cardiovasculares que son importantes para el crecimiento y mantenimiento de la placenta y el feto. Durante este periodo, las adaptaciones vasculares uterinas manifiestan cambios clasificados como de corto o largo plazo los cuales están relacionados con adaptaciones vasodilatadoras, angiogénicas o de remodelación. El estrógeno y los receptores estrogénicos clásicos (REs), RE-α y RE-β, han demostrado ser parcialmente responsables por facilitar el incremento dramático en el fluido sanguíneo uterino necesario durante el embarazo. En ésta revisión bibliográfica se discuten la base estructural para la diversidad y selectividad funcional de los REs por el estrógeno, el papel de los REs sobre los efectos genómicos y no-genómicos en células endoteliales de arterias uterinas (CEAU). Estos temas integran el conocimiento científico sobre la regulación molecular de CEAU para mantener el incremento fisiológico en la perfusión útero-placentaria observada durante un embarazo normal. PMID:26113751
Wilson, Mandy L; Okumoto, Sakiko; Adam, Laura; Peccoud, Jean
2014-01-15
Expression vectors used in different biotechnology applications are designed with domain-specific rules. For instance, promoters, origins of replication or homologous recombination sites are host-specific. Similarly, chromosomal integration or viral delivery of an expression cassette imposes specific structural constraints. As de novo gene synthesis and synthetic biology methods permeate many biotechnology specialties, the design of application-specific expression vectors becomes the new norm. In this context, it is desirable to formalize vector design strategies applicable in different domains. Using the design of constructs to express genes in the chloroplast of Chlamydomonas reinhardtii as an example, we show that a vector design strategy can be formalized as a domain-specific language. We have developed a graphical editor of context-free grammars usable by biologists without prior exposure to language theory. This environment makes it possible for biologists to iteratively improve their design strategies throughout the course of a project. It is also possible to ensure that vectors designed with early iterations of the language are consistent with the latest iteration of the language. The context-free grammar editor is part of the GenoCAD application. A public instance of GenoCAD is available at http://www.genocad.org. GenoCAD source code is available from SourceForge and licensed under the Apache v2.0 open source license.
Blazejak, Katrin; Raulf, Marie-Kristin; Janecek, Elisabeth; Jordan, Daniela; Fingerle, Volker; Strube, Christina
2018-05-18
Lyme borreliosis caused by spirochetes of the Borrelia burgdorferi (sensu lato) complex is still the most common tick-borne disease in Europe, posing a considerable threat to public health. The predominant vector in Europe is the widespread hard tick Ixodes ricinus, which also transmits the relapsing fever spirochete B. miyamotoi as well as pathogenic Rickettsiales (Anaplasma phagocytophilum, Rickettsia spp.). To assess the public health risk, a long-term monitoring of tick infection rates with the named pathogens is indispensable. The present study is the first German 10-year follow-up monitoring of tick infections with Borrelia spp. and co-infections with Rickettsiales. Furthermore, a specific Reverse Line Blot (RLB) protocol for detection of B. miyamotoi and simultaneous differentiation of B. burgdorferi (s.l.) geno-species was established. Overall, 24.0% (505/2100) of ticks collected in the city of Hanover were infected with Borrelia. In detail, 35.4% (203/573) of adult ticks [38.5% females (111/288) and 32.3% males (92/285)] and 19.8% nymphs (302/1527) were infected, representing consistent infection rates over the 10-year monitoring period. Geno-species differentiation using RLB determined B. miyamotoi in 8.9% (45/505) of positive ticks. Furthermore, a significant decrease in B. afzelii and B. spielmanii infection rates from 2010 to 2015 was observed. Co-infections with Rickettsia spp. and A. phagocytophilum increased between 2010 and 2015 (7.3 vs 10.9% and 0.3 vs 1.1%, respectively). Long-term monitoring is an essential part of public health risk assessment to capture data on pathogen occurrence over time. Such data will reveal shifts in pathogen geno-species distribution and help to answer the question whether or not climate change influences tick-borne pathogens.
Estrellas Wolf-Rayet y el medio interestelar: huellas de una fuerte interacción
NASA Astrophysics Data System (ADS)
Cichowolski, S.; Arnal, E. M.
Se presentan resultados observacionales de un estudio de la distribución de hidrógeno neutro en los alrededores de estrellas Wolf-Rayet (WR) galácticas. Los datos de la línea de 21 cm provienen de observaciones de resolución angular intermedia (9') tomadas con el radiotelescopio de Effelsberg. La muestra está compuesta por cuatro WR de la serie del nitrógeno (WN): WR130, WR131, WR155, WR156 y tres WR de la serie del carbono (WC): WR154, WR117 y WR126. Este análisis ha permitido detectar cavidades y envolturas de HI en expansión presumiblemente vinculadas a dichas estrellas.
Weber, Jan; Vazquez, Ana C; Winner, Dane; Gibson, Richard M; Rhea, Ariel M; Rose, Justine D; Wylie, Doug; Henry, Kenneth; Wright, Alison; King, Kevin; Archer, John; Poveda, Eva; Soriano, Vicente; Robertson, David L; Olivo, Paul D; Arts, Eric J; Quiñones-Mateu, Miguel E
2013-05-01
CCR5 antagonists are a powerful new class of antiretroviral drugs that require a companion assay to evaluate the presence of CXCR4-tropic (non-R5) viruses prior to use in human immunodeficiency virus (HIV)-infected individuals. In this study, we have developed, characterized, verified, and prevalidated a novel phenotypic test to determine HIV-1 coreceptor tropism (VERITROP) based on a sensitive cell-to-cell fusion assay. A proprietary vector was constructed containing a near-full-length HIV-1 genome with the yeast uracil biosynthesis (URA3) gene replacing the HIV-1 env coding sequence. Patient-derived HIV-1 PCR products were introduced by homologous recombination using an innovative yeast-based cloning strategy. The env-expressing vectors were then used in a cell-to-cell fusion assay to determine the presence of R5 and/or non-R5 HIV-1 variants within the viral population. Results were compared with (i) the original version of Trofile (Monogram Biosciences, San Francisco, CA), (ii) population sequencing, and (iii) 454 pyrosequencing, with the genotypic data analyzed using several bioinformatics tools, i.e., the 11/24/25 rule, Geno2Pheno (2% to 5.75%, 3.5%, or 10% false-positive rate [FPR]), and webPSSM. VERITROP consistently detected minority non-R5 variants from clinical specimens, with an analytical sensitivity of 0.3%, with viral loads of ≥1,000 copies/ml, and from B and non-B subtypes. In a pilot study, a 73.7% (56/76) concordance was observed with the original Trofile assay, with 19 of the 20 discordant results corresponding to non-R5 variants detected using VERITROP and not by the original Trofile assay. The degree of concordance of VERITROP and Trofile with population and deep sequencing results depended on the algorithm used to determine HIV-1 coreceptor tropism. Overall, VERITROP showed better concordance with deep sequencing/Geno2Pheno at a 0.3% detection threshold (67%), whereas Trofile matched better with population sequencing (79%). However, 454 sequencing using Geno2Pheno at a 10% FPR and 0.3% threshold and VERITROP more accurately predicted the success of a maraviroc-based regimen. In conclusion, VERITROP may promote the development of new HIV coreceptor antagonists and aid in the treatment and management of HIV-infected individuals prior to and/or during treatment with this class of drugs.
Luetkemeyer, Anne F; Kendall, Michelle A; Wu, Xingye; Lourenço, Maria Cristina; Jentsch, Ute; Swindells, Susan; Qasba, Sarojini S; Sanchez, Jorge; Havlir, Diane V; Grinsztejn, Beatriz; Sanne, Ian M; Firnhaber, Cynthia
2014-04-01
Limited performance data from line probe assays (LPAs), nucleic acid tests used for the rapid diagnosis of tuberculosis (TB), nontuberculosis mycobacteria (NTM), and Mycobacterium tuberculosis drug resistance are available for HIV-infected individuals, in whom paucibacillary TB is common. In this study, the strategy of testing sputum with GenoType MTBDRplus (MTBDR-Plus) and GenoType Direct LPA (Direct LPA) was compared to a gold standard of one mycobacterial growth indicator tube (MGIT) liquid culture. HIV-positive (HIV(+)) individuals with suspected TB from southern Africa and South America with <7 days of TB treatment had 1 sputum specimen tested with Direct LPA, MTBDR-Plus LPA, smear microscopy, MGIT, biochemical identification of mycobacterial species, and culture-based drug-susceptibility testing (DST). Of 639 participants, 59.3% were MGIT M. tuberculosis culture positive, of which 276 (72.8%) were acid-fast bacillus (AFB) smear positive. MTBDR-Plus had a sensitivity of 81.0% and a specificity of 100%, with sensitivities of 44.1% in AFB smear-negative versus 94.6% in AFB smear-positive specimens. For specimens that were positive for M. tuberculosis by MTBDR-Plus, the sensitivity and specificity for rifampin resistance were 91.7% and 96.6%, respectively, and for isoniazid (INH) they were 70.6% and 99.1%. The Direct LPA had a sensitivity of 88.4% and a specificity of 94.6% for M. tuberculosis detection, with a sensitivity of 72.5% in smear-negative specimens. Ten of 639 MGIT cultures grew Mycobacterium avium complex or Mycobacterium kansasii, half of which were detected by Direct LPA. Both LPA assays performed well in specimens from HIV-infected individuals, including in AFB smear-negative specimens, with 72.5% sensitivity for M. tuberculosis identification with the Direct LPA and 44.1% sensitivity with MTBDR-Plus. LPAs have a continued role for use in settings where rapid identification of INH resistance and clinically relevant NTM are priorities.
Detection of multidrug-resistant tuberculosis from stored DNA Samples: A multicenter study.
Rabodoarivelo, Marie Sylvianne; Brandao, A; Cergole Novella, M C; C Bombonatte, A G; Imperiale, B; Rakotosamimanana, N; Morcillo, N; Rasolofo, V; Palomino, J C; Martin, A
2018-01-01
In low-income countries, rapid detection of tuberculosis (TB) drug resistance is often restricted by the difficulties of transporting and storing sputum samples from remote health centers to the reference laboratories where molecular tests are available. The aim of this study was to evaluate the performance of four transport and storage systems for molecular detection of rifampicin (RIF) and isoniazid (INH) resistance. This was a multicenter study. Molecular detection of RIF and INH resistance was performed directly from smear-positive TB sputa spotted on a slide, FTA card, GenoCard, and ethanol using the Genotype MTBDRplus assay. The performance of the DNA extraction method from each storage support to detect drug resistance was assessed by calculating their sensitivity and specificity compared to the phenotypic method. From all sites, the overall sensitivity and specificity for RIF-resistance detection was 88% and 85%, respectively, for slides, 86% and 92%, respectively, for GenoCard, 87% and 89%, respectively, for FTA card, and 88% and 92%, respectively, for ethanol. For INH-resistance detection, the overall sensitivity and specificity was 82% and 90%, respectively, for slides, 85% and 96%, respectively, for GenoCard, 86% and 92%, respectively, for FTA card, and 86% and 94%, respectively, for ethanol. Smear slides and filter cards showed to be very useful tools to facilitate DNA extraction from sputum samples with the potential to accelerate the detection of drug resistance in remote areas.
Terra, Denise G; de Lima, Ewelyne M; do Nascimento, Andrews M; Brasil, Girlandia A; Filete, Placielle F; Kalil, Ieda C; Lenz, Dominik; Endringer, Denise C; Bissoli, Nazaré S; de Andrade, Tadeu U
2016-08-01
This study evaluated the effects of the isolated use of a low dose of methyltestosterone (MT) on cardiovascular reflexes and hormonal levels and its geno- and cytotoxic safety in ovariectomized rats. Female Wistar rats were divided into four groups (n = 6), respectively: SHAM (received vehicle methylcellulose 0.5%), SHAM + MT (received MT 0.05 mg/kg), OVX (received vehicle), and OVX + MT (received MT). Twenty-one days after ovariectomy, treatment was given orally daily for 28 days. The Bezold-Jarisch reflex (BJR) was analyzed by measuring the bradycardic and hypotensive responses elicited by phenylbiguanide (PBG) administration. The baroreflex sensitivity (BRS) was evaluated by phenylephrine and sodium nitroprussite. Myocyte hypertrophy was determined by morphometric analysis of H&E stained slides. Biochemical data were analyzed, as well as micronucleus assay. MT improved BRS and increased testosterone values, but did not change estradiol in the OVX group. MT did not promote changes in mean arterial pressure, heart rate, BJR, serum concentrations of troponin I, weight and histopathology of the heart. MT was able to restore the BRS in OVX rats. The geno- and cytotoxic safety of the MT was demonstrated by the absence of an increase in the micronucleus (PCEMN) or change in the ratio between normochromatic erythrocytes and polychromatic erythrocytes (NCE/PCE). © 2016 Société Française de Pharmacologie et de Thérapeutique.
Martinez-Orozco, Jose Arturo; Nuñez-Luna, Blanca A; Narváez-Diaz, Luis A; Pilar, Mariela Segura-Del; Mujica-Sanchez, Mario; Salazar-Lezama, Miguel Angel; Mireles-Davalos, Christian D
2017-01-01
Abstract Background Drug resistance tuberculosis, specially MDR and XDR are a big challenge for diagnosis and treatment. In Mexico the prevalence of MDR is between 3–5%, a number probably underestimated due to lack of diagnostic tests for susceptibility. The National Institute of Respiratory Diseases in Mexico City is the national referral center for MDR/XDR tuberculosis. In our country there is no data about the gene mutations involved in drug resistance to first line antituberculosis treatment nor the clinical characteristics that accompany these findings. Objective: Evaluate the prevalence of genotyping profiles according to a line probe assay (LPA) in patients with drug resistance tuberculosis and their associated clinical characteristics Methods Retrospective cohort from 2010 to 2014 of M. tuberculosis isolates with any type of resistance to first line antituberculosis drugs identified by MGIT SIRE and in which GenoType MTBDRplus/sl were performed, we evaluate prevalence of genotyping profiles according to the LPA within the isolates and gather data from those with complete medical records to asses clinical characteristics. Results In 52 and 33 isolates phenotyping and genotyping MTBDRplus/sl respectively were performed, 41 resistant to Isoniazid INH with 75% genotypic concordance, 33 resistant to rifampicin RIF with 75.6% concordance, 14 to streptomycin SM with 23% concordance and 10 to ethambutol EMB with 100% concordance, 54% MDR tuberculosis. The genotyping profile for RIF was absence of probes rpoB Wild Type 8 (WT) 57.7%, WT 7 30.8% and presence of rpoB mutation 3 (MUT) 19.2%. For INH absence of InhA WT2 48.1% and InhA WT1 19.2%. For EMB absence of embB WT1 30.8% and for SM absence of rrs WT1 (19%). Absence of InhA WT1 was associated with female (P = 0.01) and DM2 (P = 0.032) patients, other clinical/biochemical characteristics and mortality was not different in patients with o without the genotypic profile for each drug. Cavitary disease by CT was more frequent in patients with WT probe absence in RIF and INH than those who did not have a LPA suggestive of resistance for this drugs. Conclusion Wild Type probe absense is the frequent finding in our isolates according to LPA in RIF, INH, EMB and SM, intrisic host factors and clinical characteristics seem not to be related to a particular resistant gene profile. Disclosures All authors: No reported disclosures.
Kalaghatgi, Prabhav; Sikorski, Anna Maria; Knops, Elena; Rupp, Daniel; Sierra, Saleta; Heger, Eva; Neumann-Fraune, Maria; Beggel, Bastian; Walker, Andreas; Timm, Jörg; Walter, Hauke; Obermeier, Martin; Kaiser, Rolf; Bartenschlager, Ralf; Lengauer, Thomas
2016-01-01
The face of hepatitis C virus (HCV) therapy is changing dramatically. Direct-acting antiviral agents (DAAs) specifically targeting HCV proteins have been developed and entered clinical practice in 2011. However, despite high sustained viral response (SVR) rates of more than 90%, a fraction of patients do not eliminate the virus and in these cases treatment failure has been associated with the selection of drug resistance mutations (RAMs). RAMs may be prevalent prior to the start of treatment, or can be selected under therapy, and furthermore they can persist after cessation of treatment. Additionally, certain DAAs have been approved only for distinct HCV genotypes and may even have subtype specificity. Thus, sequence analysis before start of therapy is instrumental for managing DAA-based treatment strategies. We have created the interpretation system geno2pheno[HCV] (g2p[HCV]) to analyse HCV sequence data with respect to viral subtype and to predict drug resistance. Extensive reviewing and weighting of literature related to HCV drug resistance was performed to create a comprehensive list of drug resistance rules for inhibitors of the HCV protease in non-structural protein 3 (NS3-protease: Boceprevir, Paritaprevir, Simeprevir, Asunaprevir, Grazoprevir and Telaprevir), the NS5A replicase factor (Daclatasvir, Ledipasvir, Elbasvir and Ombitasvir), and the NS5B RNA-dependent RNA polymerase (Dasabuvir and Sofosbuvir). Upon submission of up to eight sequences, g2p[HCV] aligns the input sequences, identifies the genomic region(s), predicts the HCV geno- and subtypes, and generates for each DAA a drug resistance prediction report. g2p[HCV] offers easy-to-use and fast subtype and resistance analysis of HCV sequences, is continuously updated and freely accessible under http://hcv.geno2pheno.org/index.php. The system was partially validated with respect to the NS3-protease inhibitors Boceprevir, Telaprevir and Simeprevir by using data generated with recombinant, phenotypic cell culture assays obtained from patients’ virus variants. PMID:27196673
[Human papilloma virus and its association with oral cancer].
Bologna-Molina, Ronell E; Castañeda-Castaneira, Raúl E; Molina-Frechero, Nelly; Pérez-Rodríguez, Eréndira
2006-01-01
Oral cancer it a pathology of multifactorial etiology, where some factors such as age, sex, race, genetic predisposition, nutrition, and the use of tobacco and alcohol have a bearing on. In the last years, some authors showed the implication of the human papilloma virus (HPV) in the development of precarcinogenic lesions and of oral squamous cell carcinoma. The infection by HPV has been associated to hyperplastic epithelial lesions, papilloma and warty carcinoma in skin and in different types of mucosa, including the anus-genital, cervical, urethral, tracheobronchial, nasal, laryngeal and oral mucosa tracts. The viral high-risk geno-types (oncogenic) such as 16, 18, 31, 33 and 35 are frequently associated to leukoplakia and squamous carcinoma. An association of HPV with oral squamous carcinoma in patients that consume tobacco and alcohol has been fundamentally established. It is important to study and to frequently review the role that viral infections and cancer have, and maybe in the future, it would be possible to create a vaccine that diminishes the frequency of oncological problems.
Anitharaj, Velmurugan; Stephen, Selvaraj; Pradeep, Jothimani; Pooja, Pratheesh; Preethi, Sridharan
2017-01-01
Background: In the recent past, scrub typhus (ST) has been reported from different parts of India, based on Weil-Felix/enzyme-linked immunosorbent assay (ELISA)/indirect immunofluorescence assay (IFA). Molecular tests are applied only by a few researchers. Aims: Evaluation of a new commercial real time polymerase chain reaction (PCR) kit for molecular diagnosis of ST by comparing it with the commonly used IgM ELISA is our aim. Settings and Design: ST has been reported all over India including Puducherry and surrounding Tamil Nadu and identified as endemic for ST. This study was designed to correlate antibody detection by IgM ELISA and Orientia tsutsugamushi DNA in real time PCR. Materials and Methods: ST IgM ELISA (InBios Inc., USA) was carried out for 170 consecutive patients who presented with the symptoms of acute ST during 11 months (November, 2015– September, 2016). All 77 of these patients with IgM ELISA positivity and 49 of 93 IgM ELISA negative patients were subjected to real time PCR (Geno-Sen's ST real time PCR, Himachal Pradesh, India). Statistical Analysis: Statistical analysis for clinical and laboratory results was performed using IBM SPSS Statistics 17 for Windows (SPSS Inc., Chicago, USA). Chi-square test with Yates correction (Fisher's test) was employed for a small number of samples. Results and Conclusion: Among 77 suspected cases of acute ST with IgM ELISA positivity and 49 IgM negative patients, 42 and 7 were positive, respectively, for O. tsutsugamushi 56-kDa type-specific gene in real time PCR kit. Until ST IFA, the gold standard diagnostic test, is properly validated in India, diagnosis of acute ST will depend on both ELISA and quantitative PCR. PMID:28878522
Fischer, Nina M; Favrot, Claude; Birkmann, Katharina; Jackson, Michele; Schwarzwald, Colin C; Müller, Martin; Tobler, Kurt; Geisseler, Marco; Lange, Christian E
2014-06-01
The DNA of equine papillomavirus type 2 (EcPV2) is consistently found in equine papillomas and squamous cell carcinomas, indicating a causal association of EcPV2 in the pathogenesis of these tumours; however, little is known about the prevalence of this virus. The aim of this study was to determine the geno- and seroprevalence of EcPV2 in clinically healthy horses in Switzerland. Fifty horses presented to the equine department of the university clinic, displaying no skin or mucous membrane lesions or severe signs of other diseases, were sampled. Cytobrush samples from the penis or vulva and serum samples were collected. To determine the genoprevalence of EcPV2, DNA was extracted from cytobrush samples and tested for viral DNA with a PCR assay amplifying a 338 bp fragment of the E7/E1 region of the viral genome. Seroprevalence was tested using an enzyme-linked immunosorbent assay aimed to detect antibodies against the major capsid protein (L1) of EcPV2. In five of 50 horses (10%), EcPV2-specific DNA was amplified but no antibodies could be detected, whereas in 14 of 50 horses (28%), antibodies against EcPV2 but no DNA were demonstrated. Both antibodies and viral DNA were detected in four of 50 horses (8%). Neither antibodies nor viral DNA were found in 27 of 50 horses (54%). The seroprevalence suggests that EcPV2 is prevalent in the Swiss equine population, while the genoprevalence indicates that currently ongoing infections are less common. The discrepancy between geno- and seroprevalence probably indicates different stages of infection in the tested cohort. © 2014 ESVD and ACVD.
Anitharaj, Velmurugan; Stephen, Selvaraj; Pradeep, Jothimani; Pooja, Pratheesh; Preethi, Sridharan
2017-01-01
In the recent past, scrub typhus (ST) has been reported from different parts of India, based on Weil-Felix/enzyme-linked immunosorbent assay (ELISA)/indirect immunofluorescence assay (IFA). Molecular tests are applied only by a few researchers. Evaluation of a new commercial real time polymerase chain reaction (PCR) kit for molecular diagnosis of ST by comparing it with the commonly used IgM ELISA is our aim. ST has been reported all over India including Puducherry and surrounding Tamil Nadu and identified as endemic for ST. This study was designed to correlate antibody detection by IgM ELISA and Orientia tsutsugamushi DNA in real time PCR. ST IgM ELISA (InBios Inc., USA) was carried out for 170 consecutive patients who presented with the symptoms of acute ST during 11 months (November, 2015- September, 2016). All 77 of these patients with IgM ELISA positivity and 49 of 93 IgM ELISA negative patients were subjected to real time PCR (Geno-Sen's ST real time PCR, Himachal Pradesh, India). Statistical analysis for clinical and laboratory results was performed using IBM SPSS Statistics 17 for Windows (SPSS Inc., Chicago, USA). Chi-square test with Yates correction (Fisher's test) was employed for a small number of samples. Among 77 suspected cases of acute ST with IgM ELISA positivity and 49 IgM negative patients, 42 and 7 were positive, respectively, for O. tsutsugamushi 56-kDa type-specific gene in real time PCR kit. Until ST IFA, the gold standard diagnostic test, is properly validated in India, diagnosis of acute ST will depend on both ELISA and quantitative PCR.
Specialized microbial databases for inductive exploration of microbial genome sequences
Fang, Gang; Ho, Christine; Qiu, Yaowu; Cubas, Virginie; Yu, Zhou; Cabau, Cédric; Cheung, Frankie; Moszer, Ivan; Danchin, Antoine
2005-01-01
Background The enormous amount of genome sequence data asks for user-oriented databases to manage sequences and annotations. Queries must include search tools permitting function identification through exploration of related objects. Methods The GenoList package for collecting and mining microbial genome databases has been rewritten using MySQL as the database management system. Functions that were not available in MySQL, such as nested subquery, have been implemented. Results Inductive reasoning in the study of genomes starts from "islands of knowledge", centered around genes with some known background. With this concept of "neighborhood" in mind, a modified version of the GenoList structure has been used for organizing sequence data from prokaryotic genomes of particular interest in China. GenoChore , a set of 17 specialized end-user-oriented microbial databases (including one instance of Microsporidia, Encephalitozoon cuniculi, a member of Eukarya) has been made publicly available. These databases allow the user to browse genome sequence and annotation data using standard queries. In addition they provide a weekly update of searches against the world-wide protein sequences data libraries, allowing one to monitor annotation updates on genes of interest. Finally, they allow users to search for patterns in DNA or protein sequences, taking into account a clustering of genes into formal operons, as well as providing extra facilities to query sequences using predefined sequence patterns. Conclusion This growing set of specialized microbial databases organize data created by the first Chinese bacterial genome programs (ThermaList, Thermoanaerobacter tencongensis, LeptoList, with two different genomes of Leptospira interrogans and SepiList, Staphylococcus epidermidis) associated to related organisms for comparison. PMID:15698474
Mating programs including genomic relationships
USDA-ARS?s Scientific Manuscript database
Computer mating programs have helped breeders minimize pedigree inbreeding and avoid recessive defects by mating animals with parents that have fewer common ancestors. With genomic selection, breed associations, AI organizations, and on-farm software providers could use new programs to minimize geno...
Hata, Eiji; Katsuda, Ken; Kobayashi, Hideki; Uchida, Ikuo; Tanaka, Kiyoshi; Eguchi, Masashi
2010-01-01
In genetic analysis of bovine Staphylococcus aureus isolates that are recognized as an important pathogenic bacterium in bovine mastitis, multilocus sequence typing (MLST) showed strong correlation to the results of pulsed-field gel electrophoresis, coa PCR-restriction fragment length polymorphism (RFLP), spa typing, and the coagulase serotyping method. According to MLST results, strains derived from sequence type 97 (ST97) and ST705 were suggested as not only dominant bovine S. aureus lineages in Japan but also pandemic bovine S. aureus lineages. Although both lineages seem to be distantly related to each other by phylogenetic analysis, both had common characteristics, i.e., lukM/lukF′-PV and coagulase serotype VI. These characteristics were very rare among minor bovine strains and human strains and may contribute to the host specificity of these lineages. Four methicillin-resistant S. aureus (MRSA) isolates were first confirmed from bovine milk in Japan; these isolates showed geno- and serotypes that were identical or similar to those of human MRSA isolates in Japan (ST5, staphylococcal cassette chromosome mec type II [SCCmec II], Spa type t002 or t375, and coagulase serotype II, and ST89, SCCmec IIIa, Spa type t5266, and coagulase serotype I). ST5 and ST89 are uncommon among bovine isolates in the world, whereas these STs are common among human MRSA isolates in Japan. PMID:20392913
Genome sequence of Stachybotrys chartarum Strain 51-11
Stachybotrys chartarum strain 51-11 genome was sequenced by shotgun sequencing utilizing Illumina Hiseq 2000 and PacBio long read technology. Since Stachybotrys chartarum has been implicated in health impacts within water-damaged buildings, any information extracted from the geno...
In vitro cytotoxicity of various dehydropyrrolizidine ester alkaloids
USDA-ARS?s Scientific Manuscript database
Dehydropyrrolizidine alkaloids (DHPAs) are plant-derived hepato-, pneumo- and geno-toxins that are carcinogenic in several species. Because of the difficulty in isolating sufficient DHPA for toxicological studies, there are few direct comparisons of toxicity. The objectives of this study was to de...
Mating programs including genomic relationships and dominance effects
USDA-ARS?s Scientific Manuscript database
Computer mating programs have helped breeders minimize pedigree inbreeding and avoid recessive defects by mating animals with parents that have fewer common ancestors. With genomic selection, breed associations, AI organizations, and on-farm software providers could use new programs to minimize geno...
THE GENOTOXICITY OF PRIORITY POLYCYCLIC AROMATIC HYDROCARBONS IN COMPLEX MIXTURES
Risk assessment of complex environmental samples suffers from difficulty in identifying toxic components, inadequacy of available toxicity data, and a paucity of knowledge about the behavior of geno(toxic) substances in complex mixtures. Lack of information about the behavior of ...
Featured Article: Genotation: Actionable knowledge for the scientific reader
Willis, Ethan; Sakauye, Mark; Jose, Rony; Chen, Hao; Davis, Robert L
2016-01-01
We present an article viewer application that allows a scientific reader to easily discover and share knowledge by linking genomics-related concepts to knowledge of disparate biomedical databases. High-throughput data streams generated by technical advancements have contributed to scientific knowledge discovery at an unprecedented rate. Biomedical Informaticists have created a diverse set of databases to store and retrieve the discovered knowledge. The diversity and abundance of such resources present biomedical researchers a challenge with knowledge discovery. These challenges highlight a need for a better informatics solution. We use a text mining algorithm, Genomine, to identify gene symbols from the text of a journal article. The identified symbols are supplemented with information from the GenoDB knowledgebase. Self-updating GenoDB contains information from NCBI Gene, Clinvar, Medgen, dbSNP, KEGG, PharmGKB, Uniprot, and Hugo Gene databases. The journal viewer is a web application accessible via a web browser. The features described herein are accessible on www.genotation.org. The Genomine algorithm identifies gene symbols with an accuracy shown by .65 F-Score. GenoDB currently contains information regarding 59,905 gene symbols, 5633 drug–gene relationships, 5981 gene–disease relationships, and 713 pathways. This application provides scientific readers with actionable knowledge related to concepts of a manuscript. The reader will be able to save and share supplements to be visualized in a graphical manner. This provides convenient access to details of complex biological phenomena, enabling biomedical researchers to generate novel hypothesis to further our knowledge in human health. This manuscript presents a novel application that integrates genomic, proteomic, and pharmacogenomic information to supplement content of a biomedical manuscript and enable readers to automatically discover actionable knowledge. PMID:26900164
Featured Article: Genotation: Actionable knowledge for the scientific reader.
Nagahawatte, Panduka; Willis, Ethan; Sakauye, Mark; Jose, Rony; Chen, Hao; Davis, Robert L
2016-06-01
We present an article viewer application that allows a scientific reader to easily discover and share knowledge by linking genomics-related concepts to knowledge of disparate biomedical databases. High-throughput data streams generated by technical advancements have contributed to scientific knowledge discovery at an unprecedented rate. Biomedical Informaticists have created a diverse set of databases to store and retrieve the discovered knowledge. The diversity and abundance of such resources present biomedical researchers a challenge with knowledge discovery. These challenges highlight a need for a better informatics solution. We use a text mining algorithm, Genomine, to identify gene symbols from the text of a journal article. The identified symbols are supplemented with information from the GenoDB knowledgebase. Self-updating GenoDB contains information from NCBI Gene, Clinvar, Medgen, dbSNP, KEGG, PharmGKB, Uniprot, and Hugo Gene databases. The journal viewer is a web application accessible via a web browser. The features described herein are accessible on www.genotation.org The Genomine algorithm identifies gene symbols with an accuracy shown by .65 F-Score. GenoDB currently contains information regarding 59,905 gene symbols, 5633 drug-gene relationships, 5981 gene-disease relationships, and 713 pathways. This application provides scientific readers with actionable knowledge related to concepts of a manuscript. The reader will be able to save and share supplements to be visualized in a graphical manner. This provides convenient access to details of complex biological phenomena, enabling biomedical researchers to generate novel hypothesis to further our knowledge in human health. This manuscript presents a novel application that integrates genomic, proteomic, and pharmacogenomic information to supplement content of a biomedical manuscript and enable readers to automatically discover actionable knowledge. © 2016 by the Society for Experimental Biology and Medicine.
Can Molecular Hippocampal Alterations Explain Behavioral Differences in Prenatally Stressed Rats?
Studies in both humans and animals have shown that prenatal stress can alter cognitive function and other neurological behaviors in adult offspring. One possible underlying mechanism for this may lie with alterations in hippocampal gene expression. The present study examined geno...
Soroko, S I; Bekshaev, S S; Rozhkov, V P
2012-01-01
Traditional and original methods of EEG analysis were used to study the brain electrical activity maturation in 156 children and adolescents from 7 to 17 years old who represented the native (Koryaks and Evenks) and newcomers' populations living in severe climatic and geographic conditions of the Russian North-East. New data revealing age-, sex- and ethnic-related features in quantitative EEG parameters are presented. Markers are obtained that characterize alterations in the structure of interaction between different EEG rhythms. The results demonstrate age-dependent transformation of this structure separated in time for both different cortical areas and different EEG frequency bands. These alterations show time lag from 2 to 3 years in children of native population compared to the newcomers. The revealed differences are assumed to reflect geno-phenotypical features of morpho-functional CNS development in children of the native and newcomers' population that depend on strong adaptation tension for extreme environmental conditions.
Nissen, Kathrine G; Trevino, Kelly; Lange, Theis; Prigerson, Holly G
2016-12-01
Caring for a family member with advanced cancer strains family caregivers. Classification of family types has been shown to identify patients at risk of poor psychosocial function. However, little is known about how family relationships affect caregiver psychosocial function. To investigate family types identified by a cluster analysis and to examine the reproducibility of cluster analyses. We also sought to examine the relationship between family types and caregivers' psychosocial function. Data from 622 caregivers of advanced cancer patients (part of the Coping with Cancer Study) were analyzed using Gaussian Mixture Modeling as the primary method to identify family types based on the Family Relationship Index questionnaire. We then examined the relationship between family type and caregiver quality of life (Medical Outcome Survey Short Form), social support (Interpersonal Support Evaluation List), and perceived caregiver burden (Caregiving Burden Scale). Three family types emerged: low-expressive, detached, and supportive. Analyses of variance with post hoc comparisons showed that caregivers of detached and low-expressive family types experienced lower levels of quality of life and perceived social support in comparison to supportive family types. The study identified supportive, low-expressive, and detached family types among caregivers of advanced cancer patients. The supportive family type was associated with the best outcomes and detached with the worst. These findings indicate that family function is related to psychosocial function of caregivers of advanced cancer patients. Therefore, paying attention to family support and family members' ability to share feelings and manage conflicts may serve as an important tool to improve psychosocial function in families affected by cancer. Copyright © 2016 American Academy of Hospice and Palliative Medicine. All rights reserved.
Johnson, JA; Gong, L; Whirl-Carrillo, M; Gage, BF; Scott, SA; Stein, CM; Anderson, JL; Kimmel, SE; Lee, MTM; Pirmohamed, M; Wadelius, M; Klein, TE; Altman, RB
2011-01-01
Warfarin is a widely used anticoagulant with a narrow therapeutic index and large interpatient variability in the dose required to achieve target anticoagulation. Common genetic variants in the cytochrome P450-2C9 (CYP2C9) and vitamin K–epoxide reductase complex (VKORC1) enzymes, in addition to known nongenetic factors, account for ~50% of warfarin dose variability. The purpose of this article is to assist in the interpretation and use of CYP2C9 and VKORC1 geno-type data for estimating therapeutic warfarin dose to achieve an INR of 2–3, should genotype results be available to the clinician. The Clinical Pharmacogenetics Implementation Consortium (CPIC) of the National Institutes of Health Pharmacogenomics Research Network develops peer-reviewed gene–drug guidelines that are published and updated periodically on http://www.pharmgkb.org based on new developments in the field.1 PMID:21900891
Performance of Geno-Fuzzy Model on rainfall-runoff predictions in claypan watersheds
USDA-ARS?s Scientific Manuscript database
Fuzzy logic provides a relatively simple approach to simulate complex hydrological systems while accounting for the uncertainty of environmental variables. The objective of this study was to develop a fuzzy inference system (FIS) with genetic algorithm (GA) optimization for membership functions (MF...
The Analysis of Genomic Dose-Response Data in the EPA ToxCast™ Program
The U.S. EPA must assess the potential adverse effects of thousands of chemicals, often with limited toxicity information. Accurate toxicity predictions will help prioritize chemicals for further testing, focusing resources on the greater potential hazards or risks. In vitro geno...
28 CFR 79.43 - Proof of employment as a miner.
Code of Federal Regulations, 2011 CFR
2011-07-01
... Service (PHS) in the course of any health studies of uranium workers during or including the period 1942...) Records of federally supported, health-related studies of uranium workers, including: (i) Studies conducted by Geno Saccamanno, M.D., St. Mary's Hospital, Grand Junction, Colorado; and (ii) Studies...
28 CFR 79.43 - Proof of employment as a miner.
Code of Federal Regulations, 2014 CFR
2014-07-01
... Service (PHS) in the course of any health studies of uranium workers during or including the period 1942...) Records of federally supported, health-related studies of uranium workers, including: (i) Studies conducted by Geno Saccamanno, M.D., St. Mary's Hospital, Grand Junction, Colorado; and (ii) Studies...
28 CFR 79.43 - Proof of employment as a miner.
Code of Federal Regulations, 2012 CFR
2012-07-01
... Service (PHS) in the course of any health studies of uranium workers during or including the period 1942...) Records of federally supported, health-related studies of uranium workers, including: (i) Studies conducted by Geno Saccamanno, M.D., St. Mary's Hospital, Grand Junction, Colorado; and (ii) Studies...
28 CFR 79.43 - Proof of employment as a miner.
Code of Federal Regulations, 2013 CFR
2013-07-01
... Service (PHS) in the course of any health studies of uranium workers during or including the period 1942...) Records of federally supported, health-related studies of uranium workers, including: (i) Studies conducted by Geno Saccamanno, M.D., St. Mary's Hospital, Grand Junction, Colorado; and (ii) Studies...
28 CFR 79.43 - Proof of employment as a miner.
Code of Federal Regulations, 2010 CFR
2010-07-01
... Service (PHS) in the course of any health studies of uranium workers during or including the period 1942...) Records of federally supported, health-related studies of uranium workers, including: (i) Studies conducted by Geno Saccamanno, M.D., St. Mary's Hospital, Grand Junction, Colorado; and (ii) Studies...
Genome wide analysis of the transition to pathogenic lifestyles in Magnaporthales fungi
USDA-ARS?s Scientific Manuscript database
The rice blast fungus Pyricularia oryzae (syn. Magnaporthe oryzae, Magnaporthe grisea), a member of the order Magnaporthales in the class Sordariomycetes, is an important plant pathogen and a model species for studying pathogen infection and plant-fungal interaction. In this study, we generated geno...
Geno- and phenotypic characteristics of a transfected babesia bovis 6-Cys-E knockout clonal line
USDA-ARS?s Scientific Manuscript database
Babesia bovis is an intra-erythrocytic tick transmitted apicomplexan protozoan parasite. It has a complex life style including asexual replication in the mammalian host and sexual replication occurring in the midgut of host tick vector, typically, Rhipicephalus microplus. Previous evidence showed th...
The Pisum Genus: Getting out of Pea Soup!
USDA-ARS?s Scientific Manuscript database
Pea (Pisum sativum L.) has long been a model for plant genetics and is a widely grown pulse crop producing protein-rich seeds in a sustainable manner. However, many questions remain open about (sub)species relationships in the Pisumgenus. The ongoing pea genome sequencing project and the recent geno...
Complexity and dynamics of HIV-1 chemokine receptor usage in a multidrug-resistant adolescent.
Cavarelli, Mariangela; Mainetti, Lara; Pignataro, Angela Rosa; Bigoloni, Alba; Tolazzi, Monica; Galli, Andrea; Nozza, Silvia; Castagna, Antonella; Sampaolo, Michela; Boeri, Enzo; Scarlatti, Gabriella
2014-12-01
Maraviroc (MVC) is licensed in clinical practice for patients with R5 virus and virological failure; however, in anecdotal reports, dual/mixed viruses were also inhibited. We retrospectively evaluated the evolution of HIV-1 coreceptor tropism in plasma and peripheral blood mononuclear cells (PBMCs) of an infected adolescent with a CCR5/CXCR4 Trofile profile who experienced an important but temporary immunological and virological response during a 16-month period of MVC-based therapy. Coreceptor usage of biological viral clones isolated from PBMCs was investigated in U87.CD4 cells expressing wild-type or chimeric CCR5 and CXCR4. Plasma and PBMC-derived viral clones were sequenced to predict coreceptor tropism using the geno2pheno algorithm from the V3 envelope sequence and pol gene-resistant mutations. From start to 8.5 months of MVC treatment only R5X4 viral clones were observed, whereas at 16 months the phenotype enlarged to also include R5 and X4 clones. Chimeric receptor usage suggested the preferential usage of the CXCR4 coreceptor by the R5X4 biological clones. According to phenotypic data, R5 viruses were susceptible, whereas R5X4 and X4 viruses were resistant to RANTES and MVC in vitro. Clones at 16 months, but not at baseline, showed an amino acidic resistance pattern in protease and reverse transcription genes, which, however, did not drive their tropisms. The geno2pheno algorithm predicted at baseline R5 viruses in plasma, and from 5.5 months throughout follow-up only CXCR4-using viruses. An extended methodological approach is needed to unravel the complexity of the phenotype and variation of viruses resident in the different compartments of an infected individual. The accurate evaluation of the proportion of residual R5 viruses may guide therapeutic intervention in highly experienced patients with limited therapeutic options.
Complexity and Dynamics of HIV-1 Chemokine Receptor Usage in a Multidrug-Resistant Adolescent
Mainetti, Lara; Pignataro, Angela Rosa; Bigoloni, Alba; Tolazzi, Monica; Galli, Andrea; Nozza, Silvia; Castagna, Antonella; Sampaolo, Michela; Boeri, Enzo; Scarlatti, Gabriella
2014-01-01
Abstract Maraviroc (MVC) is licensed in clinical practice for patients with R5 virus and virological failure; however, in anecdotal reports, dual/mixed viruses were also inhibited. We retrospectively evaluated the evolution of HIV-1 coreceptor tropism in plasma and peripheral blood mononuclear cells (PBMCs) of an infected adolescent with a CCR5/CXCR4 Trofile profile who experienced an important but temporary immunological and virological response during a 16-month period of MVC-based therapy. Coreceptor usage of biological viral clones isolated from PBMCs was investigated in U87.CD4 cells expressing wild-type or chimeric CCR5 and CXCR4. Plasma and PBMC-derived viral clones were sequenced to predict coreceptor tropism using the geno2pheno algorithm from the V3 envelope sequence and pol gene-resistant mutations. From start to 8.5 months of MVC treatment only R5X4 viral clones were observed, whereas at 16 months the phenotype enlarged to also include R5 and X4 clones. Chimeric receptor usage suggested the preferential usage of the CXCR4 coreceptor by the R5X4 biological clones. According to phenotypic data, R5 viruses were susceptible, whereas R5X4 and X4 viruses were resistant to RANTES and MVC in vitro. Clones at 16 months, but not at baseline, showed an amino acidic resistance pattern in protease and reverse transcription genes, which, however, did not drive their tropisms. The geno2pheno algorithm predicted at baseline R5 viruses in plasma, and from 5.5 months throughout follow-up only CXCR4-using viruses. An extended methodological approach is needed to unravel the complexity of the phenotype and variation of viruses resident in the different compartments of an infected individual. The accurate evaluation of the proportion of residual R5 viruses may guide therapeutic intervention in highly experienced patients with limited therapeutic options. PMID:25275490
Influence of hormonal contraceptives and the occurrence of stroke: integrative review.
Lima, Adman Câmara Soares; Martins, Larissa Castelo Guedes; Lopes, Marcos Venícios de Oliveira; Araújo, Thelma Leite de; Lima, Francisca Elisângela Teixeira; Aquino, Priscila de Souza; Moura, Escolástica Rejane Ferreira
2017-01-01
To identify scientific evidence regarding the influence of hormonal contraceptive use and the occurrence of stroke. Integrative review of the literature, through database search using the descriptors "contraceptive agents", "contraceptive devices", "contraceptives, Oral" and "Stroke". Original studies in Portuguese, Spanish and English, published in full and available online were included. Studies that did not answer our guiding questions and duplicated studies were excluded. Women using combined oral contraceptives have higher risk of stroke, even with a lower hormonal dosage and different types of progestogen, regardless of the duration of use. The use of contraceptives associated with smoking, hypertension, migraine, hypercholesterolemia, obesity and sedentary lifestyle increases the chance of stroke. Contraceptive patch and vaginal ring are associated to increased risk. Use of combined hormonal contraceptives, except for the injectable and the transdermal ones, increases the chance of occurrence of the event. Progestogen-only contraceptives were considered safe. Identificar evidências científicas acerca da influência do uso de anticoncepcionais hormonais na ocorrência do acidente vascular cerebral (AVC). Revisão integrativa da literatura, com pesquisa em bases de dados, utilizando os descritores "contraceptive agents", "contraceptive devices", "contraceptives, Oral" e "stroke". Foram incluídos artigos originais nos idiomas português, espanhol e inglês, publicados na íntegra e disponíveis eletronicamente. Foram excluídos artigos que não respondiam às questões norteadoras e repetidos. Usuárias de anticoncepcional oral combinado apresentam risco maior de AVC, mesmo com dosagem hormonal menor e diferentes tipos de progestágeno, independente do tempo de uso. A presença associada de tabagismo, hipertensão arterial, enxaqueca, hipercolesterolemia, obesidade e sedentarismo aumenta a chance desse desfecho. Adesivo anticoncepcional e anel vaginal são relacionados ao aumento desse risco. A exposição aos anticoncepcionais hormonais combinados aumenta a chance de ocorrência do evento, exceto o injetável e o transdérmico. Os exclusivos de progestágeno foram considerados seguros.
USDA-ARS?s Scientific Manuscript database
Intense artificial selection over the last 100 years has produced elite maize (Zea mays) inbred lines that combine to produce high-yielding hybrids. To further our understanding of how genome and transcriptome variation contribute to the production of high-yielding hybrids, we generated a draft geno...
Genetic diversity associated with conservation of endangered Dongxiang wild rice (Oryza rufipogon)
USDA-ARS?s Scientific Manuscript database
The wild progenitor species (Oryza rufipogon) of Asian cultivated rice (O. sativa) is located in Dongxiang county, China where it is considered the northernmost range worldwide. Nine ex situ and three in situ populations of the Dongxiang wild rice (DXWR) and four groups of modern cultivars were geno...
USDA-ARS?s Scientific Manuscript database
Black raspberry (Rubus occidentalis L.) is a niche fruit crop valued for its flavour and potential health benefits. The improvement of fruit and cane characteristics via molecular breeding technologies has been hindered by the lack of a high-quality reference genome. The recently released draft geno...
GenoBase: comprehensive resource database of Escherichia coli K-12
Otsuka, Yuta; Muto, Ai; Takeuchi, Rikiya; Okada, Chihiro; Ishikawa, Motokazu; Nakamura, Koichiro; Yamamoto, Natsuko; Dose, Hitomi; Nakahigashi, Kenji; Tanishima, Shigeki; Suharnan, Sivasundaram; Nomura, Wataru; Nakayashiki, Toru; Aref, Walid G.; Bochner, Barry R.; Conway, Tyrrell; Gribskov, Michael; Kihara, Daisuke; Rudd, Kenneth E.; Tohsato, Yukako; Wanner, Barry L.; Mori, Hirotada
2015-01-01
Comprehensive experimental resources, such as ORFeome clone libraries and deletion mutant collections, are fundamental tools for elucidation of gene function. Data sets by omics analysis using these resources provide key information for functional analysis, modeling and simulation both in individual and systematic approaches. With the long-term goal of complete understanding of a cell, we have over the past decade created a variety of clone and mutant sets for functional genomics studies of Escherichia coli K-12. We have made these experimental resources freely available to the academic community worldwide. Accordingly, these resources have now been used in numerous investigations of a multitude of cell processes. Quality control is extremely important for evaluating results generated by these resources. Because the annotation has been changed since 2005, which we originally used for the construction, we have updated these genomic resources accordingly. Here, we describe GenoBase (http://ecoli.naist.jp/GB/), which contains key information about comprehensive experimental resources of E. coli K-12, their quality control and several omics data sets generated using these resources. PMID:25399415
Understanding Family Caregiver Communication to Provide Family-Centered Cancer Care.
Wittenberg, Elaine; Buller, Haley; Ferrell, Betty; Koczywas, Marianna; Borneman, Tami
2017-12-01
To describe a family caregiver communication typology and demonstrate identifiable communication challenges among four caregiver types: Manager, Carrier, Partner, and Lone. Case studies based on interviews with oncology family caregivers. Each caregiver type demonstrates unique communication challenges that can be identified. Recognition of a specific caregiver type will help nurses to adapt their own communication to provide tailored support. Family-centered cancer care requires attention to the communication challenges faced by family caregivers. Understanding the challenges among four family caregiver communication types will enable nurses to better address caregiver burden and family conflict. Copyright © 2017 Elsevier Inc. All rights reserved.
ERIC Educational Resources Information Center
Kalliopuska, Mirja, Ed.
This publication reports the proceedings of the Fenno-Hungarian Conference on Recent Family Types, which was held in Lahti, Finland, in July, 1989. The purpose of the conference was to discuss the effect of changing social conditions on the family, family types, and home education in Hungary and Finland. A series of papers was presented. Topics…
EJERCICIO Y LA DETECCION DEL MAL AGUDO DE MONTAÑA GRAVE
Garófoli, Adrián; Montoya, Paola; Elías, Carlos; Benzo, Roberto
2012-01-01
El Mal Agudo de Montaña (MAM) es un conjunto de síntomas inespecíficos padecidos por sujetos que ascienden rápidamente desde baja a alta altura sin adecuada aclimatación. Usualmente es autolimitado, pero las formas graves (edema pulmonar y cerebral) pueden causar la muerte. La hipoxemia exagerada en reposo está relacionada con el desarrollo de MAM pero su valor predictivo es limitado. Dado que el ejercicio en altura se acompaña de mayor hipoxemia y síntomas, postulamos el valor predictivo de un simple test de ejercicio para pronosticar MAM grave. Se estudió el valor predictivo de la saturación de oxígeno en reposo y ejercicio submáximo a 2 700m y 4 300m en 63 sujetos que ascendían al cerro Aconcagua (6 962m). Se consideró desaturación de oxígeno con ejercicio a una disminución >=5% respecto al reposo. Se utilizó la escala de Lake-Louise para establecer la presencia de MAM grave. 6 sujetos presentaron MAM grave (9.5%) y requirieron evacuación. La saturación de oxígeno en reposo a 2 700m no fue significativa para clasificar sujetos que luego desarrollaron MAM grave. Por el contrario, la asociación de desaturación durante el ejercicio a 2 700m más la saturación inapropiada en reposo a 4 300m fue significativa para clasificar a los sujetos que desarrollaron MAM grave con un valor predictivo positivo de 80% y un valor predictivo negativo del 97%. Nuestros resultados son relevantes para el montañismo y sugieren la adición de un simple test de ejercicio en la predicción del MAM grave. PMID:20228017
Optimization of nanoparticles for cardiovascular tissue engineering.
Izadifar, Mohammad; Kelly, Michael E; Haddadi, Azita; Chen, Xiongbiao
2015-06-12
Nano-particulate delivery systems have increasingly been playing important roles in cardiovascular tissue engineering. Properties of nanoparticles (e.g. size, polydispersity, loading capacity, zeta potential, morphology) are essential to system functions. Notably, these characteristics are regulated by fabrication variables, but in a complicated manner. This raises a great need to optimize fabrication process variables to ensure the desired nanoparticle characteristics. This paper presents a comprehensive experimental study on this matter, along with a novel method, the so-called Geno-Neural approach, to analyze, predict and optimize fabrication variables for desired nanoparticle characteristics. Specifically, ovalbumin was used as a protein model of growth factors used in cardiovascular tissue regeneration, and six fabrication variables were examined with regard to their influence on the characteristics of nanoparticles made from high molecular weight poly(lactide-co-glycolide). The six-factor five-level central composite rotatable design was applied to the conduction of experiments, and based on the experimental results, a geno-neural model was developed to determine the optimum fabrication conditions. For desired particle sizes of 150, 200, 250 and 300 nm, respectively, the optimum conditions to achieve the low polydispersity index, higher negative zeta potential and higher loading capacity were identified based on the developed geno-neural model and then evaluated experimentally. The experimental results revealed that the polymer and the external aqueous phase concentrations and their interactions with other fabrication variables were the most significant variables to affect the size, polydispersity index, zeta potential, loading capacity and initial burst release of the nanoparticles, while the electron microscopy images of the nanoparticles showed their spherical geometries with no sign of large pores or cracks on their surfaces. The release study revealed that the onset of the third phase of release can be affected by the polymer concentration. Circular dichroism spectroscopy indicated that ovalbumin structural integrity is preserved during the encapsulation process. Findings from this study would greatly contribute to the design of high molecular weight poly(lactide-co-glycolide) nanoparticles for prolonged release patterns in cardiovascular engineering.
Vertical transmission of macular telangiectasia type 2.
Delaere, Lien; Spielberg, Leigh; Leys, Anita M
2012-01-01
The purpose of this study was to report vertical transmission of macular telangiectasia type 2 and type 2 diabetes mellitus in 3 families. In this retrospective interventional case series, the charts of patients with inherited macular telangiectasia type 2 were reviewed. A large spectrum of presentations of macular telangiectasia type 2 was observed and has been studied with different techniques including best-corrected visual acuity, microperimetry, confocal blue reflectance fundus autofluorescence, fluorescein angiography, and time domain and spectral domain optical coherence tomography. Vertical transmission of macular telangiectasia type 2 and associated type 2 diabetes mellitus is described in 3 families. Symptomatic as well as asymptomatic eyes with macular telangiectasia type 2 were identified. In 2 families, a mother and son experienced visual loss and were diagnosed with macular telangiectasia type 2. All 4 patients had type 2 diabetes. Diabetic retinopathy was observed in one mother and her son. In the third family, the index patient was diagnosed macular telangiectasia type 2 after complaints of metamorphopsia. She and her family members had type 2 diabetes mellitus, and further screening of her family revealed familial macular telangiectasia type 2. None of the patients were treated for macular telangiectasia type 2. Macular telangiectasia type 2 may be more common than previously assumed, as vision can remain preserved and patients may go undiagnosed. Screening of family members is indicated, and detection of mild anomalies is possible using fundus autofluorescence and spectral domain optical coherence tomography.
USDA-ARS?s Scientific Manuscript database
For the first time in many years a comprehensive genome map for cultivated oat has been constructed using a combination of single nucleotide polymorphism (SNP) markers and validated with a collection of cytogenetically defined germplasm lines. The markers were able to help distinguish the three geno...
Annette M. Kretzer; Daniel L. Luoma; Randy Molina; Joseph W. Spatafora
2003-01-01
We are re-addressing species concepts in the Rhizopogon vinicolor species complex (Boletales, Basidiomycota) using sequence data from the interna transcribed spacer (ITS) region of the nuclear ribosomal repeat, as well as genoLypic data from five microsatellite loci. The R. vinicolor species complex by our definition includes,...
Creation of a high-amylose durum wheat through mutagenesis of starch synthase II (SSIIa)
USDA-ARS?s Scientific Manuscript database
In cereal seeds mutations in one or more starch synthases lead to decreased amylopectin and increased amylose content. Here, the impact of starch synthase IIa (SSIIa or SGP-1) mutations upon durum starch was investigated. A screen of durum accessions identified two lines lacking SGP-A1, the A geno...
Yamaguchi, Tatsuro; Furukawa, Yoichi; Nakamura, Yusuke; Matsubara, Nagahide; Ishikawa, Hideki; Arai, Masami; Tomita, Naohiro; Tamura, Kazuo; Sugano, Kokichi; Ishioka, Chikashi; Yoshida, Teruhiko; Moriya, Yoshihiro; Ishida, Hideyuki; Watanabe, Toshiaki; Sugihara, Kenichi
2015-02-01
The characteristics of familial colorectal cancer type X are poorly defined. Here we aimed to clarify the differences in clinical features between suspected familial colorectal cancer type X and Lynch syndrome in Japanese patients. We performed germline mutation analyses of mismatch repair genes in 125 patients. Patients who met the Amsterdam Criteria I but lacked mismatch repair gene mutations were diagnosed with suspected familial colorectal cancer type X. We identified 69 patients with Lynch syndrome and 25 with suspected familial colorectal cancer type X. The frequencies of gastric and extracolonic Lynch syndrome-associated cancers were lower with suspected familial colorectal cancer type X than with Lynch syndrome. The number of organs with Lynch syndrome-associated cancer was significantly lower with suspected familial colorectal cancer type X than with Lynch syndrome. The cumulative incidence of extracolonic Lynch syndrome-associated cancer was significantly lower with suspected familial colorectal cancer type X than with Lynch syndrome. We estimated that the median cancer risk in 60-year-old patients with Lynch syndrome was 89, 36 and 24% for colorectal, endometrial and gastric cancers, respectively. Analyses of family members, including probands, revealed that the median age at diagnosis of extracolonic Lynch syndrome-associated cancer was significantly older with suspected familial colorectal cancer type X than with Lynch syndrome. The frequency of extracolonic Lynch syndrome-associated cancer was significantly lower with suspected familial colorectal cancer type X than with Lynch syndrome. A significant difference in extracolonic Lynch syndrome-associated cancer was evident between suspected familial colorectal cancer type X and Lynch syndrome. © The Author 2014. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.
Immunophenotypes of macular corneal dystrophy in India and correlation with mutations in CHST6.
Sultana, Afia; Klintworth, Gordon K; Thonar, Eugene J-M A; Vemuganti, Geeta K; Kannabiran, Chitra
2009-01-01
To determine the immunophenotypes of macular corneal dystrophy (MCD) in Indian patients and to correlate them with mutations in the carbohydrate 6-sulfotransferase (CHST6) gene. Sixty-four patients from 53 families with MCD that were previously screened for mutations in CHST6 were included in an immunophenotype analysis. Antigenic keratan sulfate (AgKS) in serum as well as corneal tissue was evaluated in 31 families. Only cornea was evaluated in 11 families, and only serum was evaluated in 11 families. AgKS was detected in formalin-fixed, paraffin-embedded corneal sections by immunohistochemistry and in serum by ELISA using a monoclonal antibody against sulfated forms of KS in patients with MCD as well as normal controls. Analysis of corneal and/or serum AgKS disclosed MCD type I (27 families), MCD type IA (5 families), and MCD type II (3 families) in the cases studied. An additional 10 families were either MCD type I or MCD type IA since only serum AgKS data were available. Seven families manifested atypical immunophenotypes since the corneal AgKS expression was either of MCD type I or MCD type IA, but serum AgKS levels ranged from 19 ng/ml to 388 ng/ml. More than one immunophenotype was detected amongst siblings in two families. Each immunophenotype was associated with mutational heterogeneity in CHST6. MCD type I was the predominant immunophenotype in the Indian population studied followed by MCD type IA and then MCD type II. We detected further immunophenotypic heterogeneity by finding atypical patterns of AgKS reactivity in a subset of families. There were no simple correlations between immunophenotypes and specific mutations in CHST6, suggesting that factors other than CHST6 mutations may be contributing to the immunophenotypes in MCD.
Sun, Peng; Guo, Jiong; Baumbach, Jan
2012-07-17
The explosion of biological data has largely influenced the focus of today’s biology research. Integrating and analysing large quantity of data to provide meaningful insights has become the main challenge to biologists and bioinformaticians. One major problem is the combined data analysis of data from different types, such as phenotypes and genotypes. This data is modelled as bi-partite graphs where nodes correspond to the different data points, mutations and diseases for instance, and weighted edges relate to associations between them. Bi-clustering is a special case of clustering designed for partitioning two different types of data simultaneously. We present a bi-clustering approach that solves the NP-hard weighted bi-cluster editing problem by transforming a given bi-partite graph into a disjoint union of bi-cliques. Here we contribute with an exact algorithm that is based on fixed-parameter tractability. We evaluated its performance on artificial graphs first. Afterwards we exemplarily applied our Java implementation to data of genome-wide association studies (GWAS) data aiming for discovering new, previously unobserved geno-to-pheno associations. We believe that our results will serve as guidelines for further wet lab investigations. Generally our software can be applied to any kind of data that can be modelled as bi-partite graphs. To our knowledge it is the fastest exact method for weighted bi-cluster editing problem.
Sun, Peng; Guo, Jiong; Baumbach, Jan
2012-06-01
The explosion of biological data has largely influenced the focus of today's biology research. Integrating and analysing large quantity of data to provide meaningful insights has become the main challenge to biologists and bioinformaticians. One major problem is the combined data analysis of data from different types, such as phenotypes and genotypes. This data is modelled as bi-partite graphs where nodes correspond to the different data points, mutations and diseases for instance, and weighted edges relate to associations between them. Bi-clustering is a special case of clustering designed for partitioning two different types of data simultaneously. We present a bi-clustering approach that solves the NP-hard weighted bi-cluster editing problem by transforming a given bi-partite graph into a disjoint union of bi-cliques. Here we contribute with an exact algorithm that is based on fixed-parameter tractability. We evaluated its performance on artificial graphs first. Afterwards we exemplarily applied our Java implementation to data of genome-wide association studies (GWAS) data aiming for discovering new, previously unobserved geno-to-pheno associations. We believe that our results will serve as guidelines for further wet lab investigations. Generally our software can be applied to any kind of data that can be modelled as bi-partite graphs. To our knowledge it is the fastest exact method for weighted bi-cluster editing problem.
Personality Traits and Family Styles of Combat Medics in Training.
Escolas, Hollie D; Ray, Lashawnna N; Escolas, Sandra M
2016-06-01
This descriptive study examines the relationship between four family types and five personality traits. The four family types are balanced, moderately balanced, midrange, and extreme. The five personality traits are extraversion, openness to experiences, agreeableness, emotional stability, and conscientiousness. Data were collected through anonymous questionnaires distributed to combat-naïve Soldiers at the beginning of their advanced individual training. This study utilized the Family Adaptability and Cohesion Evaluation Scale1 and the Ten-Item Personality Inventory2 as measures. Overall the analyses found that participants classified as a balanced family type scored significantly higher on the personality traits of extraversion, agreeableness, and openness to experience than those classified in the family types of extreme, midrange, and moderately balanced. It appears that family types are associated with personality traits. This study opens doors to future research including looking at how family and personality types relate to each other in military units and personnel. Reprint & Copyright © 2016 Association of Military Surgeons of the U.S.
7 CFR 3560.506 - Conversion of single family type REO property to MFH use.
Code of Federal Regulations, 2014 CFR
2014-01-01
... 7 Agriculture 15 2014-01-01 2014-01-01 false Conversion of single family type REO property to MFH... and Disposition of Real Estate Owned (REO) Properties § 3560.506 Conversion of single family type REO property to MFH use. Single family type REO property may be sold for conversion to MFH program use under...
7 CFR 3560.506 - Conversion of single family type REO property to MFH use.
Code of Federal Regulations, 2012 CFR
2012-01-01
... 7 Agriculture 15 2012-01-01 2012-01-01 false Conversion of single family type REO property to MFH... and Disposition of Real Estate Owned (REO) Properties § 3560.506 Conversion of single family type REO property to MFH use. Single family type REO property may be sold for conversion to MFH program use under...
7 CFR 3560.506 - Conversion of single family type REO property to MFH use.
Code of Federal Regulations, 2013 CFR
2013-01-01
... 7 Agriculture 15 2013-01-01 2013-01-01 false Conversion of single family type REO property to MFH... and Disposition of Real Estate Owned (REO) Properties § 3560.506 Conversion of single family type REO property to MFH use. Single family type REO property may be sold for conversion to MFH program use under...
7 CFR 3560.506 - Conversion of single family type REO property to MFH use.
Code of Federal Regulations, 2011 CFR
2011-01-01
... 7 Agriculture 15 2011-01-01 2011-01-01 false Conversion of single family type REO property to MFH... and Disposition of Real Estate Owned (REO) Properties § 3560.506 Conversion of single family type REO property to MFH use. Single family type REO property may be sold for conversion to MFH program use under...
7 CFR 3560.506 - Conversion of single family type REO property to MFH use.
Code of Federal Regulations, 2010 CFR
2010-01-01
... 7 Agriculture 15 2010-01-01 2010-01-01 false Conversion of single family type REO property to MFH... and Disposition of Real Estate Owned (REO) Properties § 3560.506 Conversion of single family type REO property to MFH use. Single family type REO property may be sold for conversion to MFH program use under...
Abdel-Moein, Khaled A; Hamed, Osman; Fouad, Heba
2016-12-01
Tuberculosis is a re-emerging disease causing a growing public health burden. The current study was conducted to investigate the occurrence of Mycobacterium tuberculosis among cattle and buffaloes with tuberculous lesions. Typical tuberculous lesions were collected from 34 cattle and 34 buffaloes (Bubalus bubalis) through postmortem examination of slaughtered animals in abattoirs. DNAs were extracted from samples, and M. tuberculosis was identified by PCR. Positive samples were examined for resistance against rifampicin and isoniazid using GenoType MTBDRplus. Moreover, sera from 90 slaughterhouse workers, butchers, or meat inspectors were examined for the presence of M. tuberculosis antibodies using ELISA. Five cattle (14.7 %) and three buffaloes (8.8 %) tested positive. M. tuberculosis from one cattle was resistant to rifampicin and another was resistant to isoniazid. In addition, the seroprevalence of M. tuberculosis IgG among examined humans was 5.6 %. The occurrence of M. tuberculosis in cattle and buffaloes is a public health concern.
Development of an empirical typology of African American family functioning.
Mandara, Jelani; Murray, Carolyn B
2002-09-01
This study empirically identified types of African American families. Adolescents (N = 111) were assessed on family functioning. With cluster analytic methods, 3 types of families were identified. The cohesive-authoritative type was above average on parental education and income, averaged about 2 children, exhibited a high quality of family functioning and high self-esteem in adolescents. The conflictive-authoritarian type had average parental education and income, an average of 2.7 children, exhibited controlling and rigid discipline, and placed a high emphasis on achievement. The defensive-neglectful type was predominately headed by single mothers with below average education and income and averaged about 3 children. Such families displayed chaotic family processes, and adolescents tended to suffer from low self-esteem. The typology exhibited good reliability. The implications of the typology are discussed.
USDA-ARS?s Scientific Manuscript database
Mandarins often develop off-flavors during storage that impact consumer acceptance and it would be useful to develop mandarin varieties that are less susceptible to postharvest flavor loss. Ethanol has long been identified to be associated with flavor loss in citrus. A range of diverse mandarin geno...
USDA-ARS?s Scientific Manuscript database
Cows (n = 12/genotype) from unselected (stable milk yield since 1964, UH) and contemporary (CH) Holsteins that differed by more than 4,500 kg milk/305 d were fed the same diet ad lib and housed together for more than 4 months before being blocked (2/genotype) by DIM and randomly assigned within geno...
USDA-ARS?s Scientific Manuscript database
Aegilops tauschii is the diploid progenitor of the D genome of hexaploid wheat and an important genetic resource for wheat. A reference-quality sequence for the Ae. tauschii genome was produced with a combination of ordered-clone sequencing, whole-genome shotgun sequencing, and BioNano optical geno...
GenoBase: comprehensive resource database of Escherichia coli K-12.
Otsuka, Yuta; Muto, Ai; Takeuchi, Rikiya; Okada, Chihiro; Ishikawa, Motokazu; Nakamura, Koichiro; Yamamoto, Natsuko; Dose, Hitomi; Nakahigashi, Kenji; Tanishima, Shigeki; Suharnan, Sivasundaram; Nomura, Wataru; Nakayashiki, Toru; Aref, Walid G; Bochner, Barry R; Conway, Tyrrell; Gribskov, Michael; Kihara, Daisuke; Rudd, Kenneth E; Tohsato, Yukako; Wanner, Barry L; Mori, Hirotada
2015-01-01
Comprehensive experimental resources, such as ORFeome clone libraries and deletion mutant collections, are fundamental tools for elucidation of gene function. Data sets by omics analysis using these resources provide key information for functional analysis, modeling and simulation both in individual and systematic approaches. With the long-term goal of complete understanding of a cell, we have over the past decade created a variety of clone and mutant sets for functional genomics studies of Escherichia coli K-12. We have made these experimental resources freely available to the academic community worldwide. Accordingly, these resources have now been used in numerous investigations of a multitude of cell processes. Quality control is extremely important for evaluating results generated by these resources. Because the annotation has been changed since 2005, which we originally used for the construction, we have updated these genomic resources accordingly. Here, we describe GenoBase (http://ecoli.naist.jp/GB/), which contains key information about comprehensive experimental resources of E. coli K-12, their quality control and several omics data sets generated using these resources. © The Author(s) 2014. Published by Oxford University Press on behalf of Nucleic Acids Research.
GenoMetric Query Language: a novel approach to large-scale genomic data management.
Masseroli, Marco; Pinoli, Pietro; Venco, Francesco; Kaitoua, Abdulrahman; Jalili, Vahid; Palluzzi, Fernando; Muller, Heiko; Ceri, Stefano
2015-06-15
Improvement of sequencing technologies and data processing pipelines is rapidly providing sequencing data, with associated high-level features, of many individual genomes in multiple biological and clinical conditions. They allow for data-driven genomic, transcriptomic and epigenomic characterizations, but require state-of-the-art 'big data' computing strategies, with abstraction levels beyond available tool capabilities. We propose a high-level, declarative GenoMetric Query Language (GMQL) and a toolkit for its use. GMQL operates downstream of raw data preprocessing pipelines and supports queries over thousands of heterogeneous datasets and samples; as such it is key to genomic 'big data' analysis. GMQL leverages a simple data model that provides both abstractions of genomic region data and associated experimental, biological and clinical metadata and interoperability between many data formats. Based on Hadoop framework and Apache Pig platform, GMQL ensures high scalability, expressivity, flexibility and simplicity of use, as demonstrated by several biological query examples on ENCODE and TCGA datasets. The GMQL toolkit is freely available for non-commercial use at http://www.bioinformatics.deib.polimi.it/GMQL/. © The Author 2015. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.
Lindblom, Jallu; Vänskä, Mervi; Flykt, Marjo; Tolvanen, Asko; Tiitinen, Aila; Tulppala, Maija; Punamäki, Raija-Leena
2017-04-01
Research has demonstrated the importance of early family characteristics, such as the quality of caregiving, on children's later mental health. Information is, however, needed about the role of more holistic family systems and specific child-related socioemotional mechanisms. In this study, we conceptualize families as dynamic family system types, consisting of both marital and parenting trajectories over the transition to parenthood. First, we examine how early family system types predict children's anxiety, depression, peer exclusion, and emotion regulation. Second, we test whether couples' infertility history and other family related contextual factors moderate the effects of family system types on child outcomes. Third, we test whether children's emotion regulation and peer exclusion mediate the effects of family system types on anxiety and depression. The participants were 452 families representing cohesive, distant, authoritative, enmeshed, and discrepant family types, identified on the basis of relationship autonomy and intimacy from pregnancy to the child's age of 2 and 12 months. Children's anxiety, depression, emotion regulation, and peer exclusion were assessed at the age of 7-8 years. Structural equation modeling showed that distant, enmeshed, and discrepant families similarly predicted children's heightened anxiety and depression. Infertility history, parental education, and parity moderated the associations between certain family system types and child outcomes. Finally, emotion regulation, but not peer exclusion, was a common mediating mechanism between distant and enmeshed families and children's depression. The results emphasize the importance of early family environments on children's emotion regulation development and internalizing psychopathology. (PsycINFO Database Record (c) 2017 APA, all rights reserved).
Hierarchical clusters in families with type 2 diabetes.
García-Solano, Beatriz; Gallegos-Cabriales, Esther C; Gómez-Meza, Marco V; García-Madrid, Guillermina; Flores-Merlo, Marcela; García-Solano, Mauro
2015-01-01
Families represent more than a set of individuals; family is more than a sum of its individual members. With this classification, nurses can identify the family health-illness beliefs obey family as a unit concept, and plan family inclusion into the type 2 diabetes treatment, whom is not considered in public policy, despite families share diet, exercise, and self-monitoring with a member who suffers type 2 diabetes. The aim of this study was to determine whether the characteristics, functionality, routines, and family and individual health in type 2 diabetes describes the differences and similarities between families to consider them as a unit. We performed an exploratory, descriptive hierarchical cluster analysis of 61 families using three instruments and a questionnaire, in addition to weight, height, body fat percentage, hemoglobin A1c, total cholesterol, triglycerides, low-density lipoprotein and high-density lipoprotein. The analysis produced three groups of families. Wilk's lambda demonstrated statistically significant differences provided by age (Λ = 0.778, F = 2.098, p = 0.010) and family health (Λ = 0.813, F = 2.650, p = 0.023). A post hoc Tukey test coincided with the three subsets. Families with type 2 diabetes have common elements that make them similar, while sharing differences that make them unique.
Targeting communication interventions to decrease oncology family caregiver burden
Wittenberg-Lyles, Elaine; Goldsmith, Joy; Oliver, Debra Parker; Demiris, George; Rankin, Anna
2012-01-01
Objectives The goal of this paper was to articulate and describe family communication patterns that give shape to four types of family caregivers: Manager, Carrier, Partner, and Loner. Data Sources Case studies of oncology family caregivers and hospice patients were selected from data collected as part of a larger, randomized controlled trial aimed at assessing family participation in interdisciplinary team meetings. Conclusion Each caregiver type demonstrates essential communication traits with nurses and team members; an ability to recognize these caregiver types will facilitate targeted interventions to decrease family oncology caregiver burden. Implications for Nursing Practice By becoming familiar with caregiver types, oncology nurses will be better able to address family oncology caregiver burden and the conflicts arising from family communication challenges. With an understanding of family communication patterns and its impact on caregiver burden, nurses can aid patient, family, and team to best optimize all quality of life domains for patient as well as the lead family caregiver. PMID:23107184
Punamäki, Raija-Leena; Qouta, Samir R; Peltonen, Kirsi
2017-01-01
Background : Trauma affects the family unit as a whole; however, most existing research uses individual or, at most, dyadic approaches to analyse families with histories of trauma. Objective : This study aims to identify potentially distinct family types according to attachment, parenting, and sibling relations, to analyse how these family types differ with respect to war trauma, and to explore how children's mental health and cognitive processing differ across these family types. Method: Participants included Palestinian mothers and fathers ( N = 325) and their children (one per family; 49.4% girls; 10-13 years old; mean ± SD age = 11.35 ± 0.57 years) after the Gaza War of 2008-2009. Both parents reported their exposure to war trauma, secure attachment availability, and parenting practices, as well as the target child's internalizing and externalizing symptoms [Strengths and Difficulties Questionnaire (SDQ)]. Children reported their symptoms of post-traumatic stress disorder (on the Children's Revised Impact Event Scale), depression (Birleson), and SDQ, as well as their post-traumatic cognitions (Children's Post Traumatic Cognitions Inventory). Results: A cluster analysis identified four family types. The largest type reflected secure attachment and optimal relationships (security and positive family relationships, 36.2%, n = 102), and the smallest exhibited insecurity and problematic relationships (insecurity and negative family relationships, 15.6%; n = 44). Further, families with discrepant experiences (23.0%; n = 65) and moderate security and neutral relationships (25.2%; n = 71) emerged. The insecurity and negative relationships family type showed higher levels of war trauma; internalizing, externalizing, and depressive symptoms among children; and dysfunctional post-traumatic cognitions than other family types. Conclusion: The family systems approach to mental health is warranted in war conditions, and therapeutic interventions for children should, thus, also involve parents and siblings. Knowledge of unique family attachment patterns is fruitful for tailoring therapeutic treatments and preventive interventions for war-affected children and families.
24 CFR 5.518 - Types of preservation assistance available to mixed families and other families.
Code of Federal Regulations, 2011 CFR
2011-04-01
... available to mixed families and other families. 5.518 Section 5.518 Housing and Urban Development Office of... Restrictions on Assistance to Noncitizens § 5.518 Types of preservation assistance available to mixed families and other families. (a) Continued assistance—(1) General. A mixed family may receive continued housing...
24 CFR 5.518 - Types of preservation assistance available to mixed families and other families.
Code of Federal Regulations, 2013 CFR
2013-04-01
... available to mixed families and other families. 5.518 Section 5.518 Housing and Urban Development Office of... Restrictions on Assistance to Noncitizens § 5.518 Types of preservation assistance available to mixed families and other families. (a) Continued assistance—(1) General. A mixed family may receive continued housing...
24 CFR 5.518 - Types of preservation assistance available to mixed families and other families.
Code of Federal Regulations, 2012 CFR
2012-04-01
... available to mixed families and other families. 5.518 Section 5.518 Housing and Urban Development Office of... Restrictions on Assistance to Noncitizens § 5.518 Types of preservation assistance available to mixed families and other families. (a) Continued assistance—(1) General. A mixed family may receive continued housing...
24 CFR 5.518 - Types of preservation assistance available to mixed families and other families.
Code of Federal Regulations, 2014 CFR
2014-04-01
... available to mixed families and other families. 5.518 Section 5.518 Housing and Urban Development Office of... Restrictions on Assistance to Noncitizens § 5.518 Types of preservation assistance available to mixed families and other families. (a) Continued assistance—(1) General. A mixed family may receive continued housing...
Validation of a model of family caregiver communication types and related caregiver outcomes.
Wittenberg, Elaine; Kravits, Kate; Goldsmith, Joy; Ferrell, Betty; Fujinami, Rebecca
2017-02-01
Caring for the family is included as one of the eight domains of quality palliative care, calling attention to the importance of the family system and family communications about cancer during care and treatment of the disease. Previously, a model of family caregiver communication defined four caregiver communication types-Manager, Carrier, Partner, Lone-each with a unique communication pattern. The purpose of the present study was to extend the model of family caregiver communication in cancer care to further understand the impact of family communication burden on caregiving outcomes. This mixed-method study employed fieldnotes from a family caregiver intervention focused on quality of life and self-reported caregiver communication items to identify a specific family caregiver type. Caregiver types were then analyzed using outcome measures on psychological distress, skills preparedness, family inventory of needs, and quality-of-life domains. Corroboration between fieldnotes and self-reported communication for caregivers (n = 21, 16 women, mean age of 53 years) revealed a definitive classification of the four caregiver types (Manager = 6, Carrier = 5, Partner = 6, Lone = 4). Mean scores on self-reported communication items documented different communication patterns congruent with the theoretical framework of the model. Variation in caregiver outcomes measures confirmed the model of family caregiver communication types. Partner and Lone caregivers reported the lowest psychological distress, with Carrier caregivers feeling least prepared and Manager caregivers reporting the lowest physical quality of life. This study illustrates the impact of family communication on caregiving and increases our knowledge and understanding about the role of communication in caregiver burden. The research provides the first evidence-based validation for a family caregiver communication typology and its relationship to caregiver outcomes. Future research is needed to develop and test interventions that target specific caregiver types.
NASA Astrophysics Data System (ADS)
Bojowald, Martin
The universe, ultimately, is to be described by quantum theory. Quantum aspects of all there is, including space and time, may not be significant for many purposes, but are crucial for some. And so a quantum description of cosmology is required for a complete and consistent worldview. At any rate, even if we were not directly interested in regimes where quantum cosmology plays a role, a complete physical description could not stop at a stage before the whole universe is reached. Quantum theory is essential in the microphysics of particles, atoms, molecules, solids, white dwarfs and neutron stars. Why should one expect this ladder of scales to end at a certain size? If regimes are sufficiently violent and energetic, quantum effects are non-negligible even on scales of the whole cosmos; this is realized at least once in the history of the universe: at the big bang where the classical theory of general relativity would make energy densities diverge.
The impact of family status on gender identity and on sex-typing of household tasks in Israel.
Kulik, Liat
2005-06-01
The author examined differences in sex-typing of household tasks (adult gender roles and children's chores) and differences in gender identity among adult Israelis. The author compared 2 groups of participants: single people without children (single-family participants; n = 62) and married people with children (full-family participants; n = 62). Regarding sex-typing of household tasks and direct assessments of masculine and feminine identity, there were no differences between single-family participants and full-family participants. However, family status affected self-assessments of gender identity that were based on cultural definitions of masculine and feminine attributes. Furthermore, correlations between direct assessments of gender identity and sex-typing of household tasks differed according to family status.
Immunophenotypes of macular corneal dystrophy in India and correlation with mutations in CHST6
Klintworth, Gordon K.; Thonar, Eugene J-M.A.; Vemuganti, Geeta K.; Kannabiran, Chitra
2009-01-01
Purpose To determine the immunophenotypes of macular corneal dystrophy (MCD) in Indian patients and to correlate them with mutations in the carbohydrate 6-sulfotransferase (CHST6) gene. Methods Sixty-four patients from 53 families with MCD that were previously screened for mutations in CHST6 were included in an immunophenotype analysis. Antigenic keratan sulfate (AgKS) in serum as well as corneal tissue was evaluated in 31 families. Only cornea was evaluated in 11 families, and only serum was evaluated in 11 families. AgKS was detected in formalin-fixed, paraffin-embedded corneal sections by immunohistochemistry and in serum by ELISA using a monoclonal antibody against sulfated forms of KS in patients with MCD as well as normal controls. Results Analysis of corneal and/or serum AgKS disclosed MCD type I (27 families), MCD type IA (5 families), and MCD type II (3 families) in the cases studied. An additional 10 families were either MCD type I or MCD type IA since only serum AgKS data were available. Seven families manifested atypical immunophenotypes since the corneal AgKS expression was either of MCD type I or MCD type IA, but serum AgKS levels ranged from 19 ng/ml to 388 ng/ml. More than one immunophenotype was detected amongst siblings in two families. Each immunophenotype was associated with mutational heterogeneity in CHST6. Conclusions MCD type I was the predominant immunophenotype in the Indian population studied followed by MCD type IA and then MCD type II. We detected further immunophenotypic heterogeneity by finding atypical patterns of AgKS reactivity in a subset of families. There were no simple correlations between immunophenotypes and specific mutations in CHST6, suggesting that factors other than CHST6 mutations may be contributing to the immunophenotypes in MCD. PMID:19204788
An overview and online registry of microvillus inclusion disease patients and their MYO5B mutations.
van der Velde, K Joeri; Dhekne, Herschel S; Swertz, Morris A; Sirigu, Serena; Ropars, Virginie; Vinke, Petra C; Rengaw, Trebor; van den Akker, Peter C; Rings, Edmond H H M; Houdusse, Anne; van Ijzendoorn, Sven C D
2013-12-01
Microvillus inclusion disease (MVID) is one of the most severe congenital intestinal disorders and is characterized by neonatal secretory diarrhea and the inability to absorb nutrients from the intestinal lumen. MVID is associated with patient-, family-, and ancestry-unique mutations in the MYO5B gene, encoding the actin-based motor protein myosin Vb. Here, we review the MYO5B gene and all currently known MYO5B mutations and for the first time methodologically categorize these with regard to functional protein domains and recurrence in MYO7A associated with Usher syndrome and other myosins. We also review animal models for MVID and the latest data on functional studies related to the myosin Vb protein. To congregate existing and future information on MVID geno-/phenotypes and facilitate its quick and easy sharing among clinicians and researchers, we have constructed an online MOLGENIS-based international patient registry (www.MVID-central.org). This easily accessible database currently contains detailed information of 137 MVID patients together with reported clinical/phenotypic details and 41 unique MYO5B mutations, of which several unpublished. The future expansion and prospective nature of this registry is expected to improve disease diagnosis, prognosis, and genetic counseling. © 2013 WILEY PERIODICALS, INC.
... AAP Find a Pediatrician Family Life Medical Home Health Insurance Pediatric Specialists Family Dynamics Media Work & Play Getting ... Your Community Healthy Children > Family Life > Medical Home > Health Insurance > Types of Managed Care Plans Family Life Listen ...
Diverse Family Types and Out-of-School Learning Time of Young School-Age Children
ERIC Educational Resources Information Center
Ono, Hiromi; Sanders, James
2010-01-01
Sources of differentials in out-of-school learning time between children in first marriage biological parent families and children in six nontraditional family types are identified. Analyses of time diaries reveal that children in four of the six nontraditional family types spend fewer minutes learning than do children in first marriage biological…
Accounting for Relatedness in Family Based Genetic Association Studies
McArdle, P.F.; O’Connell, J.R.; Pollin, T.I.; Baumgarten, M.; Shuldiner, A.R.; Peyser, P.A.; Mitchell, B.D.
2007-01-01
Objective Assess the differences in point estimates, power and type 1 error rates when accounting for and ignoring family structure in genetic tests of association. Methods We compare by simulation the performance of analytic models using variance components to account for family structure and regression models that ignore relatedness for a range of possible family based study designs (i.e., sib pairs vs. large sibships vs. nuclear families vs. extended families). Results Our analyses indicate that effect size estimates and power are not significantly affected by ignoring family structure. Type 1 error rates increase when family structure is ignored, as density of family structures increases, and as trait heritability increases. For discrete traits with moderate levels of heritability and across many common sampling designs, type 1 error rates rise from a nominal 0.05 to 0.11. Conclusion Ignoring family structure may be useful in screening although it comes at a cost of a increased type 1 error rate, the magnitude of which depends on trait heritability and pedigree configuration. PMID:17570925
Krug, Isabel; Fuller-Tyszkiewicz, Matthew; Anderluh, Marija; Bellodi, Laura; Bagnoli, Silvia; Collier, David; Fernandez-Aranda, Fernando; Karwautz, Andreas; Mitchell, Sarah; Nacmias, Benedetta; Ricca, Valdo; Sorbi, Sandro; Tchanuria, Kate; Wagner, Gudrun; Treasure, Janet; Micali, Nadia
2015-12-01
To examine a new socio-family risk model of Eating Disorders (EDs) using path-analyses. The sample comprised 1264 (ED patients = 653; Healthy Controls = 611) participants, recruited into a multicentre European project. Socio-family factors assessed included: perceived maternal and parental parenting styles, family, peer and media influences, and body dissatisfaction. Two types of path-analyses were run to assess the socio-family model: 1.) a multinomial logistic path-model including ED sub-types [Anorexia Nervosa-Restrictive (AN-R), AN-Binge-Purging (AN-BP), Bulimia Nervosa (BN) and EDNOS)] as the key polychotomous categorical outcome and 2.) a path-model assessing whether the socio-family model differed across ED sub-types and healthy controls using body dissatisfaction as the outcome variable. The first path-analyses suggested that family and media (but not peers) were directly and indirectly associated (through body dissatisfaction) with all ED sub-types. There was a weak effect of perceived parenting directly on ED sub-types and indirectly through family influences and body dissatisfaction. For the second path-analyses, the socio-family model varied substantially across ED sub-types. Family and media influences were related to body dissatisfaction in the EDNOS and control sample, whereas perceived abusive parenting was related to AN-BP and BN. This is the first study providing support for this new socio-family model, which differed across ED sub-types. This suggests that prevention and early intervention might need to be tailored to diagnosis-specific ED profiles. Copyright © 2015 Elsevier Ltd. All rights reserved.
What is a species? Essences and generation.
Wilkins, John S
2010-09-01
Arguments against essentialism in biology rely strongly on a claim that modern biology abandoned Aristotle's notion of a species as a class of necessary and sufficient properties. However, neither his theory of essentialism, nor his logical definition of species and genus (eidos and genos) play much of a role in biological research and taxonomy, including his own. The objections to natural kinds thinking by early twentieth century biologists wrestling with the new genetics overlooked the fact that species have typical developmental cycles and most have a large shared genetic component. These are the "what-it-is-to-be" members of that species. An intrinsic biological essentialism does not commit us to Aristotelian notions, nor even modern notions, of essence. There is a long-standing definition of "species" and its precursor notions that goes back to the Greeks, and which Darwin and pretty well all biologists since him share, that I call the Generative Conception of Species. It relies on there being a shared generative power that makes progeny resemble parents. The "what-it-is-to-be" a member of that species is that developmental type, mistakes in development notwithstanding. Moreover, such "essences" have always been understood to include deviations from the type. Finally, I shall examine some implications of the collapse of the narrative about essences in biology.
USDA-ARS?s Scientific Manuscript database
The objective of this study was to provide initial results in an application of single-step genomic BLUP with a genomic relationship matrix (G^-1APY) calculated using the Algorithm of Proven and Young (APY) to 305-day protein yield for US Holsteins. Two G^-1APY were tested; one was from 139,057 geno...
Type-Specific Detection of 30 Oncogenic Human Papillomaviruses by Genotyping both E6 and L1 Genes
Peng, Junping; Gao, Lei; Guo, Junhua; Wang, Ting; Wang, Ling; Yao, Qing; Zhu, Haijun
2013-01-01
Human papillomavirus (HPV) is the principal cause of invasive cervical cancer and benign genital lesions. There are currently 30 HPV types linked to cervical cancer. HPV infection also leads to other types of cancer. We developed a 61-plex analysis of these 30 HPV types by examining two genes, E6 and L1, using MassARRAY matrix-assisted laser desorption ionization–time of flight mass spectrometry (MALDI-TOF MS) (PCR-MS). Two hundred samples from homosexual males (HM) were screened by PCR-MS and MY09/MY11 primer set-mediated PCR (MY-PCR) followed by sequencing. One hundred thirty-five formalin-fixed, paraffin-embedded (FFPE) cervical cancer samples were also analyzed by PCR-MS, and results were compared to those of the commercially available GenoArray (GA) assay. One or more HPV types were identified in 64.5% (129/200) of the samples from HM. Comprising all 30 HPV types, PCR-MS detected 51.9% (67/129) of samples with multiple HPV types, whereas MY-PCR detected only one single HPV type in these samples. All PCR-MS results were confirmed by MY-PCR. In the cervical cancer samples, PCR-MS and GA detected 97% (131/135) and 90.4% (122/135) of HPV-positive samples, respectively. PCR-MS and GA results were fully concordant for 122 positive and 4 negative samples. The sequencing results for the 9 samples that tested negative by GA were completely concordant with the positive PCR-MS results. Multiple HPV types were identified in 25.2% (34/135) and 55.6% (75/135) of the cervical cancer samples by GA and PCR-MS, respectively, and results were confirmed by sequencing. The new assay allows the genotyping of >1,000 samples per day. It provides a good alternative to current methods, especially for large-scale investigations of multiple HPV infections and degraded FFPE samples. PMID:23152557
Punamäki, Raija-Leena; Qouta, Samir R.; Peltonen, Kirsi
2017-01-01
ABSTRACT Background: Trauma affects the family unit as a whole; however, most existing research uses individual or, at most, dyadic approaches to analyse families with histories of trauma. Objective: This study aims to identify potentially distinct family types according to attachment, parenting, and sibling relations, to analyse how these family types differ with respect to war trauma, and to explore how children’s mental health and cognitive processing differ across these family types. Method: Participants included Palestinian mothers and fathers (N = 325) and their children (one per family; 49.4% girls; 10–13 years old; mean ± SD age = 11.35 ± 0.57 years) after the Gaza War of 2008–2009. Both parents reported their exposure to war trauma, secure attachment availability, and parenting practices, as well as the target child’s internalizing and externalizing symptoms [Strengths and Difficulties Questionnaire (SDQ)]. Children reported their symptoms of post-traumatic stress disorder (on the Children’s Revised Impact Event Scale), depression (Birleson), and SDQ, as well as their post-traumatic cognitions (Children’s Post Traumatic Cognitions Inventory). Results: A cluster analysis identified four family types. The largest type reflected secure attachment and optimal relationships (security and positive family relationships, 36.2%, n = 102), and the smallest exhibited insecurity and problematic relationships (insecurity and negative family relationships, 15.6%; n = 44). Further, families with discrepant experiences (23.0%; n = 65) and moderate security and neutral relationships (25.2%; n = 71) emerged. The insecurity and negative relationships family type showed higher levels of war trauma; internalizing, externalizing, and depressive symptoms among children; and dysfunctional post-traumatic cognitions than other family types. Conclusion: The family systems approach to mental health is warranted in war conditions, and therapeutic interventions for children should, thus, also involve parents and siblings. Knowledge of unique family attachment patterns is fruitful for tailoring therapeutic treatments and preventive interventions for war-affected children and families. PMID:29844884
The relationship between parental depressive symptoms, family type, and adolescent functioning.
Sieh, Dominik Sebastian; Sieh, Dominik Sebstian; Visser-Meily, Johanna Maria Augusta; Meijer, Anne Marie
2013-01-01
It is evident that parental depressive symptoms negatively influence adolescent behavior and various psychosocial outcomes. Certain family types like families with a chronically ill parent and single parent families are more vulnerable to parental depressive symptoms. However, the relationship between these symptoms, family type, and adolescent functioning remains largely unclear. This study examined relations between self-report of parental depressive symptoms and adolescent functioning in 86 two-parent families including a parent with a chronic medical condition, 94 families with healthy single parents, and 69 families with 2 healthy parents (comparison group). Parents completed the Beck Depression Inventory. Adolescents filled in the Youth Self-Report measuring problem behavior, and other instruments measuring psychosocial outcomes (stress, grade point average, school problems, and self-esteem). Multilevel analyses were used to examine the effects of family type, parental depressive symptoms, adolescents' gender and age, and interaction effects on adolescent functioning. The results indicated that adolescents with chronically ill and single parents had a lower grade point average (p<.01) than the comparison group. Adolescents of single parents reported more internalizing problems (p<.01) and externalizing problems (p<.05) than children from the other family types. Parental depressive symptoms were strongly related to child report of stress (p<.001). Adolescents of depressed chronically ill parents were particularly vulnerable to internalizing problems (interaction effect, p<.05). Older children and girls, and especially older girls, displayed more internalizing problems and stress. It can be concluded that growing up with a chronically ill parent in a family with 2 parents may have less impact on adolescent problem behavior than growing up in a single parent family. Health practitioners are encouraged to be attentive to the unique and combined influence of family type and parental depressive symptoms on adolescent functioning. Older and female adolescents deserve particular attention.
Familial Investigations of Childhood Cancer Predisposition
2018-01-03
Acute Leukemia; Adenomatous Polyposis; Adrenocortical Carcinoma; AML; BAP1 Tumor Predisposition Syndrome; Carney Complex; Choroid Plexus Carcinoma; Constitutional Mismatch Repair Deficiency Syndrome; Diamond-Blackfan Anemia; DICER1 Syndrome; Dyskeratosis Congenita; Emberger Syndrome; Familial Acute Myeloid Leukemia; Familial Adenomatous Polyposis; Fanconi Anemia; Familial Cancer; Familial Wilms Tumor; Familial Neuroblastoma; GIST; Hereditary Breast and Ovarian Cancer; Hereditary Paraganglioma-Pheochromocytoma Syndrome; Hodgkin Lymphoma; Juvenile Polyposis; Li-Fraumeni Syndrome; Lynch Syndrome; MDS; Melanoma Syndrome; Multiple Endocrine Neoplasia Type 1; Multiple Endocrine Neoplasia Type 2; Neuroblastoma; Neurofibromatosis Type 1; Neurofibromatosis Type II; Nevoid Basal Cell Carcinoma Syndrome; Non Hodgkin Lymphoma; Noonan Syndrome and Other Rasopathy; Overgrowth Syndromes; Pancreatic Cancer; Peutz-Jeghers Syndrome; Pheochromocytoma/Paraganglioma; PTEN Hamartoma Tumor Syndrome; Retinoblastoma; Rhabdoid Tumor Predisposition Syndrome; Rhabdomyosarcoma; Rothmund-Thomson Syndrome; Tuberous Sclerosis; Von Hippel-Lindau Disease
Murad, Ali S; Smith, George Davey; Lewis, Sarah J; Cox, Angela; Donovan, Jenny L; Neal, David E; Hamdy, Freddie C; Martin, Richard M
2010-01-01
Epidemiological studies have identified a positive association between prostate cancer and recent onset type 2 diabetes mellitus but an increasingly inverse association with greater duration of type 2 diabetes. The mecha- nisms underlying these paradoxical associations are not clear. A single nucleotide polymorphism in the glucokinase gene, rs1799884, is associated with higher circulating plasma fasting glucose and with an increased risk of type 2 diabetes. We report a case-control study nested within the population-based Prostate testing for cancer and Treatment (ProtecT) study ISRCTN20141297. Men aged 50-69 years based around 9 UK cities were invited for a prostate specific antigen (PSA) test between June 2002 and November 2006. 1,551 cases and 2,993 controls were geno-typed. We observed suggestive evidence for a positive association between the AA variant rs1799884 and PSA-detected prostate cancer (ORAA V GG= 1.40, 95% CI= 0.95 to 2.07). There was little evidence that this effect was greater for more advanced stage/ grade cancers (ORAA V GG= 1.78, 95% CI= 0.99 to 3.21) versus less advanced cancers (ORAA V GG= 1.23, 95% CI= 0.77 to 1.94) (p for interaction = 0.33). The rs1799884 genotype was not associated with PSA concentration, suggesting that any effect on prostate cancer risk is not attributable to PSA detection bias. Our results provide suggestive evidence for a link between a genotype associated with type 2 diabetes mellitus and PSA-detected prostate cancer. We hypothesize that hyperglycaemia may be important in mediating this relationship. PMID:21537389
Winstok, Zeev
2015-01-01
The study examines long-term effects of family violence in childhood (violence between parents and/or parent-to-child violence) on adult self-esteem. Data were derived from a sample of 352 university students. Findings show that young adults not exposed to family violence in childhood report the highest self-esteem; lower self-esteem reports were by those experiencing one type of family violence; the lowest self-esteem was reported by those who experienced two types of family violence. In the latter two groups, self-esteem was also affected by frequency of violence. A linkage was identified between the family violence types examined: The more frequent one type of violence, the more frequent the other type. Theoretical and practical implications for the study of effects of family violence on child development are discussed.
Cyril, S; Halliday, J; Green, J; Renzaho, A M N
2016-08-03
Although childhood obesity prevalence is stabilised in developed countries including Australia, it is continuing to rise among migrants and socially disadvantaged groups in these countries. African migrants and refugees in particular, are at high risk of obesity due to changes in their family dynamics. The aim of this study was to examine the difference between children and parental perception of family functioning, family communication, family type and parenting styles and their relationship with body mass index. A cross-sectional parent-child dyad study was conducted among 284 African families from migrant and refugee backgrounds living in metropolitan Melbourne, Australia. Bilingual workers were trained to collect demographic, anthropometric and questionnaire data on family functioning, parenting, family type and family communication. Parents and children reported different levels of family dynamics. Children reported a higher prevalence of poor family functioning (61.5 %, 95 % CI: 55.6, 67.2 versus 56.8 %, 95 % CI: 49.7, 61.6) and protective family type (29 %, 95 % CI: 23.9, 34.5 vs. 13.4 %, 95 % CI: 9.9, 17.9), but a lower prevalence of authoritative parenting style (51.6 %, 95 % CI: 45.7, 57.5 vs. 63 %, 95 % CI: 57.5, 68.8) than parents. There was a positive relationship between poor family functioning and child BMI both before (β = 1.28; 95 % CI: 0.14, 2.41; p < 0.05) and after (β = 1.73; 95 % CI: 0.53, 2.94; p < 0.001) controlling for confounders, and an inverse relationship between consensual family type and child BMI after adjustment (β = -1.92; 95 % CI: -3.59, -0.24; p < 0.05). There was no significant relationship between parental BMI and family functioning, communication, family type or parenting style. Children's perception of poor family functioning was associated with childhood obesity. Family interventions to reduce childhood obesity need to adopt an intergenerational approach to promote a clear understanding of family dynamics between children and parents. Unless these intergenerational challenges associated with family dynamics are clearly addressed in obesity interventions, current obesity prevention initiatives will continue to widen the childhood obesity gap in Australia.
Family factors in end-of-life decision-making: family conflict and proxy relationship.
Parks, Susan Mockus; Winter, Laraine; Santana, Abbie J; Parker, Barbara; Diamond, James J; Rose, Molly; Myers, Ronald E
2011-02-01
Few studies have examined proxy decision-making regarding end-of-life treatment decisions. Proxy accuracy is defined as whether proxy treatment choices are consistent with the expressed wishes of their index elder. The purpose of this study was to examine proxy accuracy in relation to two family factors that may influence proxy accuracy: perceived family conflict and type of elder-proxy relationship. Telephone interviews with 202 community-dwelling elders and their proxy decision makers were conducted including the Life-Support Preferences Questionnaire (LSPQ), and a measure of family conflict, and sociodemographic characteristics, including type of relationship. Elder-proxy accuracy was associated with the type of elder-proxy relationship. Adult children demonstrated the lowest elder-proxy accuracy and spousal proxies the highest elder-proxy accuracy. Elder-proxy accuracy was associated with family conflict. Proxies reporting higher family conflict had lower elder-proxy accuracy. No interaction between family conflict and relationship type was revealed. Spousal proxies were more accurate in their substituted judgment than adult children, and proxies who perceive higher degree of family conflict tended to be less accurate than those with lower family conflict. Health care providers should be aware of these family factors when discussing advance care planning.
Family and Friends: Which Types of Personal Relationships Go Together in a Network?
Rözer, Jesper; Mollenhorst, Gerald; Poortman, Anne-Rigt
We examine the link between family and personal networks. Using arguments about meeting opportunities, competition and social influence, we hypothesise how the presence of specific types of family members (i.e., a partner, children, parents and siblings) and non-family members (i.e., friends, neighbours and colleagues) in the network mutually affect one another. In addition, we propose that-beyond their mere presence-the active role of family members in the network strongly affects the presence of non-family members in the network. Data from the third wave of the Survey on the Social Networks of the Dutch, collected in 2012 and 2013, show that active involvement is of key importance; more than merely having family members present in one's personal network, the active involvement of specific types of family members in the personal network is associated with having disproportionally more other family members and having somewhat fewer non-family members in the network.
Family Transitions during the Adolescent Transition: Implications for Parenting.
ERIC Educational Resources Information Center
Freeman, Harry S.; Newland, Lisa A.
2002-01-01
Explores how family transitions affect parenting practices in a sample of adolescents. Adolescents from all family types reported significant declines in behavioral control, but not parental responsiveness. Findings suggest that adolescent individuation may overshadow family-type differences during middle adolescence. (Contains 50 references and 3…
ERIC Educational Resources Information Center
National Center on Child Abuse and Neglect (DHHS/OHDS), Washington, DC.
Family violence is a widespread problem; research has shown multiple factors are associated with family violence. Types of family violence include spouse abuse; elder abuse and neglect; child abuse and neglect; parent abuse; and sibling abuse. There are three types of spouse abuse: physical abuse, sexual violence, and psychological/emotional…
Parental Depression and Anxiety and Early Childhood Behavior Problems across Family Types
ERIC Educational Resources Information Center
Meadows, Sarah O.; McLanahan, Sara S.; Brooks-Gunn, Jeanne
2007-01-01
Using the Fragile Families and Child Wellbeing Study, we examine the association between parental major depressive and generalized anxiety disorders and child behavior problems across family types: married, cohabiting, involved nonresident father, and noninvolved nonresident father. Among 3-year-olds in all families, maternal anxiety/depression is…
V-type candidates and Vesta family asteroids in the Moving Objects VISTA (MOVIS) catalogue
NASA Astrophysics Data System (ADS)
Licandro, J.; Popescu, M.; Morate, D.; de León, J.
2017-04-01
Context. Basaltic asteroids (spectrally classified as V-types) are believed to be fragments of large differentiated bodies. The majority of them are found in the inner part of the asteroid belt, and are current or past members of the Vesta family. Recently, some V-type asteroids have been discovered far from the Vesta family supporting the hypothesis of the presence of multiple basaltic asteroids in the early solar system. The discovery of basaltic asteroids in the outer belt challenged the models of the radial extent and the variability of the temperature distribution in the early solar system. Aims: We aim to identify new basaltic V-type asteroids using near-infrared colors of 40 000 asteroids observed by the VHS-VISTA survey and compiled in the MOVIS-C catalogue. We also want to study their near-infrared colors and to study the near-infrared color distribution of the Vesta dynamical family. Methods: We performed a search in the MOVIS-C catalogue of all the asteroids with (Y-J) and (J-Ks) in the range (Y-J) ≥ 0.5 and (J-Ks) ≤ 0.3, associated with V-type asteroids, and studied their color distribution. We have also analyzed the near-infrared color distribution of 273 asteroid members of the Vesta family and compared them with the albedo and visible colors from WISE and SDSS data. We determined the fraction of V-type asteroids in the family. Results: We found 477 V-type candidates in MOVIS-C, 244 of them outside the Vesta dynamical family. We identified 19 V-type asteroids beyond the 3:1 mean motion resonance, 6 of them in the outer main belt, and 16 V-types in the inner main belt with proper inclination Ip ≤ 3.0°, well below the inclination of the Vesta family. We computed that 85% of the members of the Vesta dynamical family are V-type asteroids, and only 1-2% are primitive class asteroids and unlikely members of the family. Conclusions: This work almost doubles the sample of basaltic asteroid candidates in regions outside the Vesta family. Spectroscopic studies in the near-infrared and dynamical studies are needed to confirm their basaltic composition and to determine their origin.
Genetic heterogeneity of Usher syndrome type II.
Pieke Dahl, S; Kimberling, W J; Gorin, M B; Weston, M D; Furman, J M; Pikus, A; Möller, C
1993-01-01
Usher syndrome is an autosomal recessive disorder characterised by retinitis pigmentosa and congenital sensorineural hearing loss. A gene for Usher syndrome type II (USH2) has been localised to chromosome 1q32-q41. DNA from a family with four of seven sibs affected with clinical characteristics of Usher syndrome type II was genotyped using markers spanning the 1q32-1q41 region. These included D1S70 and D1S81, which are believed to flank USH2. Genotypic results and subsequent linkage analysis indicated non-linkage of this family to these markers. The A test analysis for heterogeneity with this family and 32 other Usher type II families was statistically significant at p < 0.05. Further clinical evaluation of this family was done in light of the linkage results to determine if any phenotypic characteristics would allow for clinical identification of the unlinked type. No clear phenotypic differences were observed; however, this unlinked family may represent a previously unreported subtype of Usher type II characterised by a milder form of retinitis pigmentosa and mild vestibular abnormalities. Heterogeneity of Usher syndrome type II complicates efforts to isolate and clone Usher syndrome genes using linkage analysis and limits the use of DNA markers in early detection of Usher type II. Images PMID:7901420
The Child and Family Hospital Experience
Ferguson, Deron; Fryda, Sarah; Rubin, Nicole
2015-01-01
Patient and family experiences are important indicators of quality of care and little is known about how family accommodation affects hospital experience. We added questions about accommodation to standardized inpatient pediatric and neonatal intensive care unit family experience surveys at 10 U.S. hospitals to determine the accommodation types used by families, compare characteristics across accommodation types and explore accommodation-type influences on overall hospital experience outcomes. Parents of inpatient children (n = 5,105; 93.4%) most often stayed in the child’s room (76.8%). Parents of neonatal intensive care unit infants (n = 362; 6.6%) most often stayed overnight in their own home or with relatives/friends (47.2%). Accommodation varied based on hospital, parent, and child factors. Accommodation type was a significant predictor for most hospital experience outcomes, with families who stayed at a Ronald McDonald House reporting more positive overall hospital experiences (odds ratios: ranging from 1.83 to 4.86 for contrasted accommodation types and three experience outcomes). PMID:25854957
The Relationship between Parental Depressive Symptoms, Family Type, and Adolescent Functioning
Sieh, Dominik Sebstian; Visser-Meily, Johanna Maria Augusta; Meijer, Anne Marie
2013-01-01
It is evident that parental depressive symptoms negatively influence adolescent behavior and various psychosocial outcomes. Certain family types like families with a chronically ill parent and single parent families are more vulnerable to parental depressive symptoms. However, the relationship between these symptoms, family type, and adolescent functioning remains largely unclear. This study examined relations between self-report of parental depressive symptoms and adolescent functioning in 86 two-parent families including a parent with a chronic medical condition, 94 families with healthy single parents, and 69 families with 2 healthy parents (comparison group). Parents completed the Beck Depression Inventory. Adolescents filled in the Youth Self-Report measuring problem behavior, and other instruments measuring psychosocial outcomes (stress, grade point average, school problems, and self-esteem). Multilevel analyses were used to examine the effects of family type, parental depressive symptoms, adolescents' gender and age, and interaction effects on adolescent functioning. The results indicated that adolescents with chronically ill and single parents had a lower grade point average (p<.01) than the comparison group. Adolescents of single parents reported more internalizing problems (p<.01) and externalizing problems (p<.05) than children from the other family types. Parental depressive symptoms were strongly related to child report of stress (p<.001). Adolescents of depressed chronically ill parents were particularly vulnerable to internalizing problems (interaction effect, p<.05). Older children and girls, and especially older girls, displayed more internalizing problems and stress. It can be concluded that growing up with a chronically ill parent in a family with 2 parents may have less impact on adolescent problem behavior than growing up in a single parent family. Health practitioners are encouraged to be attentive to the unique and combined influence of family type and parental depressive symptoms on adolescent functioning. Older and female adolescents deserve particular attention. PMID:24260457
Köppel, Herwig; Renner, Wilfried; Gugl, Alexander; Cichocki, Lisa; Gasser, Robert; Wascher, Thomas C; Pilger, Ernst
2004-01-01
The insertion/deletion (I/D) polymorphism of the gene for angiotensin-converting-enzyme (ACE) is associated with ACE plasma levels and activity. Conflicting results have been reported about the relevance of this polymorphism for venous thrombosis. The aim of the present study was to analyze the role of this polymorphism for deep venous thrombosis. The study was designed as a case-control study, including 330 patients with documented deep venous thrombosis and 354 controls. ACE genotype was determined by size-analysis of polymerase chain reaction products. Results showed that, ACE genotype frequencies were similar between patients (II: 24.8%; ID: 43.3%; DD: 31.8%) and controls (II: 22.9%; ID: 50.6%; DD: 26.6%, P = 0.15). The adjusted odds ratio of carriers of the DD geno-type for venous thrombosis was 1.24 (95% confidence interval 0.90-1.80). The polymorphism was furthermore not associated with age at first thromboembolic event or the occurrence of pulmonary embolism. From these results, we can conclude that the ACE I/D polymorphism is not a significant risk factor for deep venous thrombosis.
Pereira, M Graça; Pedras, Susana; Machado, José Cunha
2014-06-01
This study analyzed whether family variables such as marital adjustment, partner support, family coping, and family stress moderated the relationship between negative beliefs about medicines and adherence to self-care behaviors (diet, glucose monitoring, exercise, foot care, and medication), in Type 2 diabetes patients. The sample was composed of 387 individuals with Type 2 diabetes, diagnosed in the past 12 months. Patients were assessed on self-care behaviors in diabetes, medication adherence, beliefs about medicines, family coping, family stress, marital adjustment, and partner support. The results showed marital adjustment, family coping, partner support, and family stress as moderators in the relationship between negative beliefs and adherence. Patients with negative beliefs regarding medicines, but who reported good marital adjustment and family coping were more likely to test their blood glucose; and if they reported low support from their partners were less likely to adhere to their prescribed diet. Finally, patients with negative beliefs about medicines, but who reported high family stress, were less likely to take their medication. The results emphasize the importance of family variables on adherence to self-care behaviors and medication. This study revealed the importance of including partners on interventions regarding Type 2 diabetes because they seem to play an important role in patient's adherence.
[Atypical manifestations in familial type 1 Waardenburg syndrome].
Sans, B; Calvas, P; Bazex, J
1998-01-01
Waardenburg syndrome is an uncommon genetic disorder. Four clinical types are recognized. Three responsible genes have been identified (PAX 3: for type I syndrome, MITF and EDN3 for types II and IV respectively). We report the case of a patient with Waardenburg type I morphotype who had atypical neurological manifestations. Decisive elements for diagnosis were the presence of Waardenburg syndrome in the family and, in affected kin, a mutation causing a shift in PAX 3 gene reading. This case confirms the variability of Waardenburg signs within one family. The association of unusual neurological manifestations in the proband suggested that Vogt Koyanagi Harada disease may have been associated and may show some relationship with familial Waardenburg syndrome.
Revisiting Parametric Types and Virtual Classes
NASA Astrophysics Data System (ADS)
Madsen, Anders Bach; Ernst, Erik
This paper presents a conceptually oriented updated view on the relationship between parametric types and virtual classes. The traditional view is that parametric types excel at structurally oriented composition and decomposition, and virtual classes excel at specifying mutually recursive families of classes whose relationships are preserved in derived families. Conversely, while class families can be specified using a large number of F-bounded type parameters, this approach is complex and fragile; and it is difficult to use traditional virtual classes to specify object composition in a structural manner, because virtual classes are closely tied to nominal typing. This paper adds new insight about the dichotomy between these two approaches; it illustrates how virtual constraints and type refinements, as recently introduced in gbeta and Scala, enable structural treatment of virtual types; finally, it shows how a novel kind of dynamic type check can detect compatibility among entire families of classes.
Zöller, Bengt; Palmer, Karolina; Li, Xinjun; Sundquist, Jan; Sundquist, Kristina
2015-09-01
The importance of family history of venous thromboembolism (VTE) in cancer patients is unclear. We conducted a nationwide study to determine whether family history of VTE is a risk factor for hospitalized VTE in cancer patients. The Swedish Multi-Generation Register was linked to the Swedish Hospital Discharge Register and the Swedish Cancer Registry. Familial (sibling/parent history of VTE) hazard ratios (HRs) for VTE in 20 cancer types were determined by cause-specific Cox regression for 258877 cancer patients in 1987-2010 without previous VTE. Familial HRs were also determined in 7644203 individuals without cancer or VTE before 1987, with follow-up in 1987-2010. Significant familial HRs for VTE in cancer patients were observed for the following cancer types: cancers of the breast (HR=1.79), lung (HR=1.21), colon (HR=1.30), prostate (HR=1.46), testis (HR=2.02), nervous system (HR=1.31), stomach (HR=1.73), and rectum (HR=1.77), as well as melanoma (HR=1.71), non-Hodgkin lymphoma (HR=1.32), myeloma (HR=1.69), and leukemia (HR=1.44). In a time-dependent analysis the familial HRs for VTE were significant before diagnosis of cancer (p-values <0.0001). After diagnosis of cancer the familial HRs VTE were weaker, with significant HRs for 12 cancer types. On an additive scale, the joint effect of cancer and family history was significantly increased compared to separate effects in four cancer types. However, for certain cancers the familial VTE cases were limited. Family history of VTE is a risk factor for VTE in several cancer types. However, familial factors are relatively more important in non-cancer than in cancer patients. Copyright © 2015 Elsevier Ltd. All rights reserved.
Requirements for the Military Message System (MMS) Family: Data Types and User Commands.
1986-04-11
AD-A167 126 REQUIREMENTS FOR THE MILITARY MESSASE SYSTEM (NHS) i FRILY: DATA TYPES AND USER CONNNDS(U) NAVAL RESEARCH LAB WASHINGTON DC C L HEITHEVER... System (MMS) Family: Data Types and User Commands CONSTANCE L. HEITMEYER Computer Science and Systems Branch I Information Technology Division April 11...Security Classification) Requirements for the Military Message System (MMS) Family: Data Types and User Commands 12. PERSONAL AUTHOR(S) Heitmeer, Constance
Mayberry, Lindsay Satterwhite; Harper, Kryseana J; Osborn, Chandra Y
2016-09-01
Diabetes-specific family behaviors are associated with self-care and glycemic control among adults with type 2 diabetes. Formative research is needed to inform assessment of these behaviors and interventions to address obstructive family behaviors (sabotaging and nagging/arguing), particularly among racial/ethnic minorities and low-income adults who struggle most with self-care adherence. We conducted a mixed-methods study with adults with type 2 diabetes at a Federally Qualified Health Center to better understand experiences with diabetes-specific family behaviors and willingness to engage family members in diabetes interventions. Participants completed a phone survey (N = 53) and/or attended a focus group (n = 15). Participants were 70% African American and had low socioeconomic status (96% annual income
ERIC Educational Resources Information Center
Liang, Senfeng
2013-01-01
This study examines ways in which Chinese immigrant families are involved in their children's mathematics education, particularly focusing on how different types of families utilize different forms of capital to support their children's mathematics education. The theoretical framework defines four types of Chinese immigrant families--working…
Early Family System Types Predict Children's Emotional Attention Biases at School Age
ERIC Educational Resources Information Center
Lindblom, Jallu; Peltola, Mikko J.; Vänskä, Mervi; Hietanen, Jari K.; Laakso, Anu; Tiitinen, Aila; Tulppala, Maija; Punamäki, Raija-Leena
2017-01-01
The family environment shapes children's social information processing and emotion regulation. Yet, the long-term effects of early family systems have rarely been studied. This study investigated how family system types predict children's attentional biases toward facial expressions at the age of 10 years. The participants were 79 children from…
Grabowski, Dan; Andersen, Tue Helms; Varming, Annemarie; Ommundsen, Christine; Willaing, Ingrid
2017-01-01
Objectives: Family involvement plays a key role in diabetes management. Problems and challenges related to type 2-diabetes often affect the whole family, and relatives are at increased risk of developing diabetes themselves. We highlight these issues in our objectives: (1) to uncover specific family problems associated with mutual involvement in life with type 2-diabetes and (2) to analytically look at ways of approaching these problems in healthcare settings. Methods: Qualitative data were gathered in participatory problem assessment workshops. The data were analysed in three rounds using radical hermeneutics. Results: Problems were categorized in six domains: knowledge, communication, support, everyday life, roles and worries. The final cross-analysis focusing on the link between family identity and healthcare authenticity provided information on how the six domains can be approached in healthcare settings. Conclusion: The study generated important knowledge about problems associated with family involvement in life with type 2 diabetes and about how family involvement can be supported in healthcare practice. PMID:28839943
El medio interestelar alrededor de estrellas Of: HD 108
NASA Astrophysics Data System (ADS)
Cappa, C.; Testori, J. C.
Hemos analizado la distribución del hidrógeno neutro interestelar en la vecindad de la estrella Of HD 108 en base a perfiles de la línea de 21 cm. Estos datos nos han permitido encontrar una probable burbuja interestelar asociada a la estrella. Comparamos estos resultados con la emisión en otros rangos espectrales y estimamos los principales parámetros físicos de la estructura.
Work-family conflict and employee psychiatric disorders: the National Comorbidity Survey.
Frone, M R
2000-12-01
This study examined the relation between work-family conflict and several types of psychiatric disorders: mood, anxiety, substance dependence, and substance abuse. Survey data were obtained from a representative national sample of 2,700 employed adults who were either married or the parent of a child 18 years old or younger. Hierarchical logistic regression analyses revealed that both work-to-family and family-to-work conflict were positively related to having a mood, anxiety, and substance dependence disorder. Depending on the type of work-family conflict and type of disorder, employees who reported experiencing work-family conflict often were 1.99-29.66 times more likely than were employees who reported no work-family conflict to experience a clinically significant mental health problem. No support was found for gender differences.
[Effects of family cohesion and adaptability on behavioral problems in preschool children].
Wang, Yan-Ni; Xue, Hong-Li; Chen, Qian
2016-05-01
To investigate the effects of family cohesion and adaptability on behavioral problems in preschool children. The stratified cluster multistage sampling method was used to perform a questionnaire survey in the parents of 1 284 children aged 3-6 years in the urban area of Lanzhou, China. The general status questionnaire, Conners Child Behavior Checklist (Parent Symptom Question), and Family Adaptability and Cohesion Scale, Second edition, Chinese version (FACESII-CV) were used to investigate behavioral problems and family cohesion and adaptability. The overall detection rate of behavioral problems in preschool children was 17.13%. The children with different types of family cohesion had different detection rates of behavioral problems, and those with free-type family cohesion showed the highest detection rate of behavioral problems (40.2%). The children with different types of family adaptability also had different detection rates of behavioral problems, and those with stiffness type showed the highest detection rate of behavioral problems (25.1%). The behavioral problems in preschool children were negatively correlated with family cohesion and adaptability. During the growth of preschool children, family cohesion and adaptability have certain effects on the mental development of preschool children.
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2013-01-01
Background Recently, Jatropha curcas L. has attracted worldwide attention for its potential as a source of biodiesel. However, most DNA markers have demonstrated high levels of genetic similarity among and within jatropha populations around the globe. Despite promising features of copia-type retrotransposons as ideal genetic tools for gene tagging, mutagenesis, and marker-assisted selection, they have not been characterized in the jatropha genome yet. Here, we examined the diversity, evolution, and genome-wide organization of copia-type retrotransposons in the Asian, African, and Mesoamerican accessions of jatropha, then introduced a retrotransposon-based marker for this biofuel crop. Results In total, 157 PCR fragments that were amplified using the degenerate primers for the reverse transcriptase (RT) domain of copia-type retroelements were sequenced and aligned to construct the neighbor-joining tree. Phylogenetic analysis demonstrated that isolated copia RT sequences were classified into ten families, which were then grouped into three lineages. An in-depth study of the jatropha genome for the RT sequences of each family led to the characterization of full consensus sequences of the jatropha copia-type families. Estimated copy numbers of target sequences were largely different among families, as was presence of genes within 5 kb flanking regions for each family. Five copia-type families were as appealing candidates for the development of DNA marker systems. A candidate marker from family Jc7 was particularly capable of detecting genetic variation among different jatropha accessions. Fluorescence in situ hybridization (FISH) to metaphase chromosomes reveals that copia-type retrotransposons are scattered across chromosomes mainly located in the distal part regions. Conclusion This is the first report on genome-wide analysis and the cytogenetic mapping of copia-type retrotransposons of jatropha, leading to the discovery of families bearing high potential as DNA markers. Distinct dynamics of individual copia-type families, feasibility of a retrotransposon-based insertion polymorphism marker system in examining genetic variability, and approaches for the development of breeding strategies in jatropha using copia-type retrotransposons are discussed. PMID:24020916
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Chen, Kaitian; Zong, Ling; Zhan, Yuan; Wu, Xuan; Liu, Min; Jiang, Hongyan
2015-05-01
Waardenburg syndrome is clinically and genetically heterogeneous. The SOX10 mutation related with Waardenburg syndrome type II is rare in Chinese. This study aimed to uncover the genetic causes of Waardenburg syndrome type II in a three-generation family to improve genetic counseling. Complete clinical and molecular evaluations were conducted in a three-generation Han Chinese family with Waardenburg syndrome type II. Targeted genetic counseling was provided to this family. We identified a rare heterozygous dominant mutation c.621C>A (p.Y207X) in SOX10 gene in this family. The premature termination codon occurs in exon 4, 27 residues downstream of the carboxyl end of the high mobility group box. Bioinformatics prediction suggested this variant to be disease-causing, probably due to nonsense-mediated mRNA decay. Useful genetic counseling was given to the family for prenatal guidance. Identification of a rare dominant heterozygous SOX10 mutation c.621C>A in this family provided an efficient way to understand the causes of Waardenburg syndrome type II and improved genetic counseling. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.
New subtype of familial achondrogenesis type IA (Houston-Harris).
Ramírez-García, Sergio Alberto; García-Cruz, Diana; Cervantes-Aragón, Iván; Bitar-Alatorre, Wadih Emilio; Dávalos-Rodríguez, Ingrid Patricia; Dávalos-Rodríguez, Nory Omayra; Corona-Rivera, Jorge Román; Sánchez-Corona, José
2018-01-01
Achondrogenesis is a skeletal dysplasia characterized primarily by short stature, severe micromelia, short and narrow chest, prematurity, polyhydramnios, fetal hydrops, and in utero or neonatal death. Based on the radiological and histopathological findings, there are three types of achondrogenesis: type 1A (Houston-Harris), type 1B (Fraccaro) and type 2 (Langer-Saldino). A premature female product was studied whose clinical, radiological and histopathological characteristics were compatible with achondrogenesis Type 1A. The family information allowed us to conclude that the 4 products of the 6 previous pregnancies were affected. Statistical analysis in at least 4 families previously described, including this family case showed significant differences between expected and observed number of members, being incongruent with an autosomal recessive mode of inheritance previously reported. therefore, it could be considered a new subtype of achondrogenesis type 1A due to the presence of a preferential germline mutation. Copyright: © 2018 Permanyer.
Sleep Duration, Quality of Sleep, and Use of Sleep Medication, by Sex and Family Type, 2013-2014.
Nugent, Colleen N; Black, Lindsey I
2016-01-01
Data from the National Health Interview Survey, 2013-2014. Single parents, especially women, were more likely than adults in other types of families to have short sleep duration, frequently have trouble falling asleep and staying asleep, and frequently wake up feeling not well-rested. Within family types, women were more likely than men to frequently have trouble falling asleep and staying asleep, and to frequently wake up feeling not well-rested. Overall, adults in two-parent families were less likely than adults in other types of families to have taken sleep medication four times or more in the past week. All material appearing in this report is in the public domain and may be reproduced or copied without permission; citation as to source, however, is appreciated.
Li, Ting; Yang, Yang Claire; Zhang, Yanlong
2018-05-01
This study examined the patterns of social-network types and their relative survival benefits among Chinese older adults. We examined how macro-level social factors such as cultural norms and unbalanced regional economic development shaped older people's network behaviors, and whether these factors could moderate the association between network types and mortality. Using data from the Chinese Longitudinal Healthy Longevity Survey (2008-2014), we identified four network types-diverse, friend-focused, family-focused, and restricted-based on individuals' social network measures. Multinomial logistic analyses revealed that older people situated in an area with a deeply rooted family culture or a more advanced economy tend to be less likely to enroll in a diverse network than a family-focused one. This prevents them from achieving the best adaptive survival, as Cox regression analyses showed that the family-focused network type was less beneficial than the diverse one for the survival of older adults. Furthermore, while the survival advantage of the diverse-network type over the family-focused type did not change with cultural contexts, economic development attenuated the deleterious effects of the friend-focused network type. Copyright © 2018 Elsevier Ltd. All rights reserved.
Yacoob, Fahmiya Leena; Philomina Jose, Beena; Karunakaran Lelitha, Sarada Devi; Sreenivasan, Sreelatha
2016-01-01
In a high tuberculosis burdened country like India, rapid, cost-effective, and reliable diagnostic tools for tuberculosis are an urgent need of the hour to prevent inappropriate treatment strategies and further spread of resistance. This study aimed to estimate the proportion of new smear-positive tuberculosis cases with primary resistance to rifampicin and/or isoniazid as well as identify the common mutations associated with it. Sputum of 200 newly diagnosed smear-positive cases of 1+ score and above was directly subjected to Line Probe Assay using the GenoType MTBDRplus assay kit. All samples were inoculated onto solid media and 61 samples were inoculated in automated liquid culture also. The Line Probe Assay gave hundred percent interpretable results with 2.5% of the study population showing resistant pattern. Only 1% of the cases were primary multidrug resistant tuberculosis and 1.5% showed isoniazid monoresistance. S531L and C15T were the most common genetic mutations seen for rifampicin and isoniazid resistance, respectively. 40% had absent rpoB wild type 8 band indicating probable silent mutation after clinical correlation. The average turnaround time for Line Probe Assay was far less (3.8 days) as compared to solid and liquid cultures (35.6 days and 13.5 days, resp.).
Álvarez-Pérez, Sergio; de Vega, Clara; Herrera, Carlos M.
2013-01-01
The genetic and evolutionary relationships among floral nectar-dwelling Pseudomonas ‘sensu stricto’ isolates associated to South African and Mediterranean plants were investigated by multilocus sequence analysis (MLSA) of four core housekeeping genes (rrs, gyrB, rpoB and rpoD). A total of 35 different sequence types were found for the 38 nectar bacterial isolates characterised. Phylogenetic analyses resulted in the identification of three main clades [nectar groups (NGs) 1, 2 and 3] of nectar pseudomonads, which were closely related to five intrageneric groups: Pseudomonas oryzihabitans (NG 1); P. fluorescens, P. lutea and P. syringae (NG 2); and P. rhizosphaerae (NG 3). Linkage disequilibrium analysis pointed to a mostly clonal population structure, even when the analysis was restricted to isolates from the same floristic region or belonging to the same NG. Nevertheless, signatures of recombination were observed for NG 3, which exclusively included isolates retrieved from the floral nectar of insect-pollinated Mediterranean plants. In contrast, the other two NGs comprised both South African and Mediterranean isolates. Analyses relating diversification to floristic region and pollinator type revealed that there has been more unique evolution of the nectar pseudomonads within the Mediterranean region than would be expected by chance. This is the first work analysing the sequence of multiple loci to reveal geno- and ecotypes of nectar bacteria. PMID:24116076
Psychological adjustment of Yoruba adolescents as influenced by family type: a research note.
Oyefeso, A O; Adegoke, A R
1992-05-01
This research examines the influence of family type on the psychological adjustment of Yoruba adolescents. Using a sample of 116 adolescents, 69 males and 47 females, with mean age of 17.8 years of age (S.D. = 1.72), the results reveal that male adolescents from monogamous families experience better psychological adjustment than their polygynous counterparts, whereas no such difference exists in the levels of psychological adjustment of female adolescents from both family types. These findings suggest that (i) sex-role prescription influences psychological adjustment of adolescents in Yoruba societies, and (ii) female children enjoy more protective upbringing in polygynous families than their male counterparts.
Cultural and Family Challenges to Managing Type 2 Diabetes in Immigrant Chinese Americans
Chesla, Catherine A.; Chun, Kevin M.; Kwan, Christine M.L.
2009-01-01
OBJECTIVE Although Asians demonstrate elevated levels of type 2 diabetes, little attention has been directed to their unique cultural beliefs and practices regarding diabetes. We describe cultural and family challenges to illness management in foreign-born Chinese American patients with type 2 diabetes and their spouses. RESEARCH DESIGN AND METHODS This was an interpretive comparative interview study with 20 foreign-born Chinese American couples (n = 40) living with type 2 diabetes. Multiple (six to seven) semistructured interviews with each couple in individual, group, and couple settings elicited beliefs about diabetes and narratives of care within the family and community. Interpretive narrative and thematic analysis were completed. A separate respondent group of 19 patients and spouses who met the inclusion criteria reviewed and confirmed the themes developed from the initial couples. RESULTS Cultural and family challenges to diabetes management within foreign-born Chinese American families included how 1) diabetes symptoms challenged family harmony, 2) dietary prescriptions challenged food beliefs and practices, and 3) disease management requirements challenged established family role responsibilities. CONCLUSIONS Culturally nuanced care with immigrant Chinese Americans requires attentiveness to the social context of disease management. Patients' and families' disease management decisions are seldom made independent of their concerns for family well-being, family face, and the reciprocal responsibilities required by varied family roles. Framing disease recommendations to include cultural concerns for balance and significant food rituals are warranted. PMID:19628812
Cultural and family challenges to managing type 2 diabetes in immigrant Chinese Americans.
Chesla, Catherine A; Chun, Kevin M; Kwan, Christine M L
2009-10-01
Although Asians demonstrate elevated levels of type 2 diabetes, little attention has been directed to their unique cultural beliefs and practices regarding diabetes. We describe cultural and family challenges to illness management in foreign-born Chinese American patients with type 2 diabetes and their spouses. This was an interpretive comparative interview study with 20 foreign-born Chinese American couples (n = 40) living with type 2 diabetes. Multiple (six to seven) semistructured interviews with each couple in individual, group, and couple settings elicited beliefs about diabetes and narratives of care within the family and community. Interpretive narrative and thematic analysis were completed. A separate respondent group of 19 patients and spouses who met the inclusion criteria reviewed and confirmed the themes developed from the initial couples. Cultural and family challenges to diabetes management within foreign-born Chinese American families included how 1) diabetes symptoms challenged family harmony, 2) dietary prescriptions challenged food beliefs and practices, and 3) disease management requirements challenged established family role responsibilities. Culturally nuanced care with immigrant Chinese Americans requires attentiveness to the social context of disease management. Patients' and families' disease management decisions are seldom made independent of their concerns for family well-being, family face, and the reciprocal responsibilities required by varied family roles. Framing disease recommendations to include cultural concerns for balance and significant food rituals are warranted.
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Lester, D H; Inglehearn, C F; Bashir, R; Ackford, H; Esakowitz, L; Jay, M; Bird, A C; Wright, A F; Papiha, S S; Bhattacharya, S S
1990-01-01
Recently Dryja and his co-workers observed a mutation in the 23d codon of the rhodopsin gene in a proportion of autosomal dominant retinitis pigmentosa (ADRP) patients. Linkage analysis with a rhodopsin-linked probe C17 (D3S47) was carried out in two large British ADRP families, one with diffuse-type (D-type) RP and the other with regional-type (R-type) RP. Significantly positive lod scores (lod score maximum [Zmax] = +5.58 at recombination fraction [theta] = .0) were obtained between C17 and our D-type ADRP family showing complete penetrance. Sequence and oligonucleotide analysis has, however, shown that no point mutation at the 23d codon exists in affected individuals in our complete-penetrance pedigree, indicating that another rhodopsin mutation is probably responsible for ADRP in this family. Significantly negative lod scores (Z less than -2 at theta = .045) were, however, obtained between C17 and our R-type family which showed incomplete penetrance. Previous results presented by this laboratory also showed no linkage between C17 and another large British R-type ADRP family with incomplete penetrance. This confirms genetic heterogeneity. Some types of ADRP are being caused by different mutations in the rhodopsin locus (3q21-24) or another tightly linked gene in this region, while other types of ADRP are the result of mutations elsewhere in the genome. Images Figure 2 Figure 3 Figure 4 PMID:2393026
Obesogenic family types identified through latent profile analysis.
Martinson, Brian C; VazquezBenitez, Gabriela; Patnode, Carrie D; Hearst, Mary O; Sherwood, Nancy E; Parker, Emily D; Sirard, John; Pasch, Keryn E; Lytle, Leslie
2011-10-01
Obesity may cluster in families due to shared physical and social environments. This study aims to identify family typologies of obesity risk based on family environments. Using 2007-2008 data from 706 parent/youth dyads in Minnesota, we applied latent profile analysis and general linear models to evaluate associations between family typologies and body mass index (BMI) of youth and parents. Three typologies described most families with 18.8% "Unenriched/Obesogenic," 16.9% "Risky Consumer," and 64.3% "Healthy Consumer/Salutogenic." After adjustment for demographic and socioeconomic factors, parent BMI and youth BMI Z-scores were higher in unenriched/obesogenic families (BMI difference = 2.7, p < 0.01 and BMI Z-score difference = 0.51, p < 0.01, respectively) relative to the healthy consumer/salutogenic typology. In contrast, parent BMI and youth BMI Z-scores were similar in the risky consumer families relative to those in healthy consumer/salutogenic type. We can identify family types differing in obesity risks with implications for public health interventions.
Avaliação dos efeitos do subgalato de bismuto na proliferação de miofibroblastos
de Lima, Rubianne Ligório; Sampaio, Cláudia Paraguaçu; Seidel, Karin Caroline; Branco, Melina; Sobreiro, Rafaela Mabile
2016-01-01
Resumo Contexto O subgalato de bismuto é um metal pesado e insolúvel, utilizado por suas propriedades adstringentes e hemostáticas. Objetivo Avaliar os efeitos do subgalato de bismuto na cicatrização mediante observação de miofibroblastos em pele de ratos. Métodos Foram utilizados 60 ratos da linhagem Wistar, que receberam uma ferida no dorso da pele. Os animais foram divididos em dois grupos: controle (aplicação diária de cloreto de sódio a 0,9%) e experimental (aplicação diária de 0,5 mg de subgalato de bismuto). Cada grupo foi subdividido em três subgrupos, que foram reoperados para retirada da ferida em 3, 7 e 14 dias. Foi realizada coloração de hematoxilina eosina, picrosirius e imuno-histoquímica para avaliar contagem de miofibroblastos, resposta inflamatória e síntese de colágeno. Resultados Não foi encontrada diferença entre os grupos controle e experimento com relação ao processo inflamatório – subgrupos 3 dias (p = 1), 7 dias (p = 0,474) e 14 dias (p = 303). A avaliação dos colágenos tipo I e III no grupo-controle não demonstrou benefícios de cicatrização – 3 dias (p = 0,436), 7 dias (p = 0,853) e 14 dias (p = 0,436); já no grupo experimental, houve aumento dos colágenos tipos I e III nos subgrupos 3 e 14 dias (p = 0,005). A imuno-histoquímica confirmou os resultados encontrados na coloração hematoxilina eosina, na qual a área de miofibroblastos entre os subgrupos, nos grupos experimental (p = 0,4) e controle (p = 0,336), foi indiferente. Conclusão A utilização do subgalato de bismuto em ferida de pele de ratos não evidenciou benefícios na cicatrização, ou seja, não houve diferença na fibroplasia quando comparados os grupos experimental e controle. PMID:29930592
Cabré, Eduard; Mañosa, Míriam; García-Sánchez, Valle; Gutiérrez, Ana; Ricart, Elena; Esteve, Maria; Guardiola, Jordi; Aguas, Mariam; Merino, Olga; Ponferrada, Angel; Gisbert, Javier P; Garcia-Planella, Esther; Ceña, Gloria; Cabriada, José L; Montoro, Miguel; Domènech, Eugeni
2014-07-01
Disease outcome has been found to be poorer in familial inflammatory bowel disease (IBD) than in sporadic forms, but assessment of phenotypic concordance in familial IBD provided controversial results. We assessed the concordance for disease type and phenotypic features in IBD families. Patients with familial IBD were identified from the IBD Spanish database ENEIDA. Families in whom at least two members were in the database were selected for concordance analysis (κ index). Concordance for type of IBD [Crohn's disease (CD) vs. ulcerative colitis (UC)], as well as for disease extent, localization and behaviour, perianal disease, extraintestinal manifestations, and indicators of severe disease (i.e., need for immunosuppressors, biological agents, and surgery) for those pairs concordant for IBD type, were analyzed. 798 out of 11,905 IBD patients (7%) in ENEIDA had familial history of IBD. Complete data of 107 families (231 patients and 144 consanguineous pairs) were available for concordance analyses. The youngest members of the pairs were diagnosed with IBD at a significantly younger age (p<0.001) than the oldest ones. Seventy-six percent of pairs matched up for the IBD type (κ=0.58; 95%CI: 0.42-0.73, moderate concordance). There was no relevant concordance for any of the phenotypic items assessed in both diseases. Familial IBD is associated with diagnostic anticipation in younger individuals. Familial history does not allow predicting any phenotypic feature other than IBD type. Copyright © 2013 European Crohn's and Colitis Organisation. Published by Elsevier B.V. All rights reserved.
... Adoption & Foster Care Communication & Discipline Types of Families Media Work & Play Getting Involved in Your Community Healthy Children > Family Life > Family Dynamics > Roles Within the Family Family Life Listen Español Text ...
... Life Family Life Family Life Medical Home Family Dynamics Media Work & Play Getting Involved in Your Community ... Find a Pediatrician Family Life Medical Home Family Dynamics Adoption & Foster Care Communication & Discipline Types of Families ...
Chakraborty, Raja; Bose, Kaushik; Bisai, Samiran
2009-01-01
A cross-sectional study of 469 adult (>18 years) Bengalee male slum dwellers of Dum Dum, Kolkata, India, was undertaken to study the relationships of family income and house type with body mass index (BMI) and chronic energy deficiency. The overall frequency of chronic energy deficiency was 32.0%. Based on the World Health Organization classification, the prevalence of chronic energy deficiency among this population was high and thus the situation is serious. Overall, monthly family income was significantly positively correlated with BMI. Significant differences in mean weight, BMI and monthly family income, were observed between the two house type groups. All values were found to be significantly higher in the brick household group who also earned a comparatively higher income as evident from the mean monthly family income values. The prevalence of chronic energy deficiency was also found to be significantly higher in the bamboo-fenced household group. Subjects belonging to the lowest family income group had the lowest mean BMI and the highest rate of chronic energy deficiency while those in the highest family income group had the largest mean BMI and lowest rate of chronic energy deficiency. There was a significant family income group difference in mean BMI. There existed significant differences in chronic energy deficiency rates in family income group categories. Linear regression analyses showed that monthly family income and house type had a significant impact on BMI. Subsequent multiple regression analyses revealed that both monthly family income and house type had a significant impact on BMI, even after controlling for each other.
[Medical and social condition of families of patients with multiple sclerosis].
Lugovtsova, Y A; Karnaukh, V N
2015-01-01
To analyze the medical and social condition of 70 families having a member with multiple sclerosis of working age. We used the classification of types and kinds of families of chronically ill patients of working-age that included two sections - grouping families by health and social status. By medical condition, most families are assessed as dysfunctional II degree, by welfare as at risk families. Both health and social status of the family depends on a number of social factors as well as the clinical characteristics of the disease, in particular, type of disease course and severity of neurological deficit.
Searching for the Kinkeepers: Historian Gender, Age, and Type 2 Diabetes Family History
ERIC Educational Resources Information Center
Giordimaina, Alicia M.; Sheldon, Jane P.; Kiedrowski, Lesli A.; Jayaratne, Toby Epstein
2015-01-01
Kinkeepers facilitate family communication and may be key to family medical history collection and dissemination. Middle-aged women are frequently kinkeepers. Using type 2 diabetes (T2DM) as a model, we explored whether the predicted gender and age effects of kinkeeping can be extended to family medical historians. Through a U.S. telephone survey,…
Prevalence of a positive family history of type 2 diabetes in women with polycystic ovarian disease.
Fox, R
1999-12-01
The known association between insulin resistance and polycystic ovarian disease (PCOD) has been studied by determination of the prevalence of a positive family history of diabetes in a consecutive series of oligomenorrheic women with polycystic ovaries and eumenorrheic women with normal ovaries who served as controls. A significantly greater proportion of the families of the patients with PCOD had at least one member affected by type 2 diabetes (39.1% of the PCOD group and 7.6% of the controls; p < 0.001). Both obese (54.8%) and non-obese women (24.2%) with PCOD had an increased prevalence of type 2 diabetes within their families. Paternal and maternal family members affected were in similar proportions, there being no evidence of preferential transmission through the female line in this study. The increased prevalence of type 2 diabetes in the families of women with polycystic ovaries is further evidence for the association between PCOD and insulin resistance, and provides a possible explanation for the familial nature of the ovarian disorder.
Family therapy Overview Family therapy is a type of psychological counseling (psychotherapy) that can help family members improve communication and resolve conflicts. Family therapy is usually provided by a psychologist, ...
El medio interestelar alrededor de estrellas Of
NASA Astrophysics Data System (ADS)
Caballero, N.; Cappa, C.
Se analiza la distribución del hidrógeno neutro interestelar en la vecindad de algunas estrellas Of con el fin de investigar la presencia de burbujas de H I vinculadas a las estrellas. Se determinan los parámetros físicos de las burbujas de H I encontradas y se comparan con estructuras similares vinculadas a estrellas Wolf-Rayet. El estudio se lleva a cabo en base a datos pertenecientes al relevamiento de Weaver y Willians (1973).
Proceedings of the Conference on Environmental Toxicology (9th), 28, 29, and 30 March 1979
1979-08-01
collected on all persons by the method of saline induction. All samples were analyzed in the laboratory of Dr. Geno Saccomanno, Grand Junction, Colorado...hydrazine was labeled by 1 4 C-methyl-methionine to a greater extent than in saline -treated animals. In the current studies, young adult fasted male...METHIONINE: COMPARISON TO METHYLATION IN HYDRAZINE- AND MMH-TREATED RATS 7-Methylguanine Content Treatment (pMole/Mole Guanine) Saline 0 (None
Next generation tools for genomic data generation, distribution, and visualization
2010-01-01
Background With the rapidly falling cost and availability of high throughput sequencing and microarray technologies, the bottleneck for effectively using genomic analysis in the laboratory and clinic is shifting to one of effectively managing, analyzing, and sharing genomic data. Results Here we present three open-source, platform independent, software tools for generating, analyzing, distributing, and visualizing genomic data. These include a next generation sequencing/microarray LIMS and analysis project center (GNomEx); an application for annotating and programmatically distributing genomic data using the community vetted DAS/2 data exchange protocol (GenoPub); and a standalone Java Swing application (GWrap) that makes cutting edge command line analysis tools available to those who prefer graphical user interfaces. Both GNomEx and GenoPub use the rich client Flex/Flash web browser interface to interact with Java classes and a relational database on a remote server. Both employ a public-private user-group security model enabling controlled distribution of patient and unpublished data alongside public resources. As such, they function as genomic data repositories that can be accessed manually or programmatically through DAS/2-enabled client applications such as the Integrated Genome Browser. Conclusions These tools have gained wide use in our core facilities, research laboratories and clinics and are freely available for non-profit use. See http://sourceforge.net/projects/gnomex/, http://sourceforge.net/projects/genoviz/, and http://sourceforge.net/projects/useq. PMID:20828407
Che, Wangjun; Liu, Guiming; Qiu, Hong; Zhang, Hao; Ran, Yun; Zeng, Xianggui; Wen, Weihua; Shu, Ya
2010-06-01
Gasoline engine exhaust has been considered as a major source of air pollution in China. Due to lower cyto- and geno-toxicity effects of methanol engine exhaust, methanol is regarded as a potential substitute for gasoline. We have previously compared cyto- and geno-toxicities of gasoline engine exhaust with that of methanol engine exhaust in A549 cells (Zhang et al., 2007).To characterize the immunotoxic effects for gasoline and methanol engine exhausts in immune cell, in this study, we further compared effects of gasoline and methanol engine exhausts on immune function in RAW264.7 cell and rabbit alveolar macrophages. Results showed that both gasoline and methanol engine exhaust could evidently inhibit RAW264.7 cell proliferation, promote RAW264.7 cell apoptosis, decrease E-rosette formation rate and inhibit anti-tumor effects of alveolar macrophages, at the same time, these effects of gasoline engine exhaust were far stronger than those of methanol engine exhaust. In addition, gasoline engine exhaust could significantly inhibit activities of ADCC of alveolar macrophages, but methanol engine exhaust could not. These results suggested that both gasoline and methanol engine exhausts might be immunotoxic atmospheric pollutants, but some effects of gasoline engine exhaust on immunotoxicities may be far stronger than that of methanol engine exhaust. Copyright 2010 Elsevier Ltd. All rights reserved.
Allam, Ahmed A.; Gabr, Sami A.; Ajarem, Jamaan; Alghadir, Ahmad H.; Sekar, Revathi; Chow, Billy KC
2017-01-01
Background: This study aims to examine the protective effect of green tea on the disturbances in oxidative stress and apoptosis related factors, mostly produced due to perinatal lipopolysaccharide (LPS) exposure, that subsequently induces liver cell damage. Materials and Methods: Anti-free radical, Antioxidant, scavenging, geno-protective, and antiapoptotic activity of aqueous green tea extract (AGTE) were assessed against LPS-induced hepatic dysfunction in newborn-rats. AGTE at doses of 100 & 200 mg/kg was orally administered daily to rat dams, during gestation and lactation. Results: AGTE was observed to exhibit protective effects by significantly attenuating LPS-induced alterations in serum AST, ALT, bilirubin, and albumin levels. Significant increase in the total antioxidant capacity (TAC), DNA contents, and reduction in nitric oxide (NO) levels were observed in AGTE treated rats comparing LPS-toxicated ones. Additionally, AGTE treatment significantly down-regulated apoptotic markers and this effect was directly correlated to the degree of hepatic fibrosis. The possible mechanisms of the potential therapeutic-liver protective effect of AGTE could be due to free radical scavenging potential and antiapoptotic properties caused by the presence of antioxidant polyphenolic components in AGTE. Conclusion: We thereby propose, based on our findings, that the anti-free radical and anti-apoptotic inducing properties of AGTE active constituents attribute to its functional efficacy as anti-fibrotic agent. PMID:28573233
Franco, Marília Masello Junqueira; Ribeiro, Márcio Garcia; Pavan, Fernando Rogério; Miyata, Marcelo; Heinemann, Marcos Bryan; de Souza Filho, Antonio Francisco; Cardoso, Rosilene Fressatti; de Almeida, Aryadne Larissa; Sakate, Ricardo Ichiro; Paes, Antonio Carlos
2017-05-01
In developing nations, 10-20% of the human cases of tuberculosis are caused by Mycobacterium bovis. However, this percentage may be underestimated because most laboratories in developing countries do not routinely perform mycobacterial cultures, and only a few have the systems in place to identify M. bovis. There are few studies investigating genotypic diversity and drug resistance in M. bovis from animal and/or human infections. The genotypic diversity of M. bovis strains obtained from bovine lymph nodes were investigated by spacer oligonucleotide typing (spoligotyping) and mycobacterial interspersed repetitive unit-variable-number tandem repeat typing (MIRU-VNTR). The phenotypic resistance to isoniazid and rifampicin and MIC values of the isolates were determined using the resazurin microtiter assay plate method (REMA). The evaluation of the possible genetic basis for such resistance was performed with GenoType MTBDRplus. Sixty-seven isolates were obtained, of which 11 (16%) were MDR-TB, 8 (12%) were isoniazid-resistant, and 2 (3%) were rifampicin-resistant. Mutations associated with drug resistance were not found. Genotyping techniques enabled the grouping of the strains into 12 clusters and 21 isolates with unique profiles. The high frequency of M. bovis reinforces the impact of the pathogen as a major causal agent of bovine tuberculosis in the study area. The resistance of the strains to drugs used for first-line treatment of human tuberculosis raises public health concerns. Further studies are required to elucidate the basis of drug resistance and genotypic diversity in M. bovis. Copyright © 2017 Elsevier Ltd. All rights reserved.
Waardenburg syndrome and myelomeningocele in a family.
Chatkupt, S; Chatkupt, S; Johnson, W G
1993-01-01
We report the first family with Waardenburg syndrome type 1 and myelomeningocele in which more than one subject was affected with both disorders. The possible association is discussed. Prenatal screening for myelomeningocele is suggested for a family with Waardenburg syndrome type 1. Images PMID:8423616
Aubry, Alexandra; Sougakoff, Wladimir; Bodzongo, Pamela; Delcroix, Guy; Armand, Sylvie; Millot, Gérald; Jarlier, Vincent; Courcol, René; Lemaître, Nadine
2014-01-01
Tuberculosis (TB) is one of the major public health problems in Congo. However, data concerning Mycobacterium tuberculosis drug resistance are lacking because of the insufficient processing capacity. So, the aim of this study was to investigate for the first time the resistance patterns and the strain lineages of a sample of M. tuberculosis complex (MTBC) isolates collected in the two main cities of Congo. Over a 9-day period, 114 smear-positive sputa isolated from 114 patients attending centers for the diagnosis and treatment of TB in Brazzaville and Pointe Noire were collected for culture and drug susceptibility testing (DST). Detection of mutations conferring drug resistance was performed by using line probe assays (GenoType MTBDRplus and MTBDRsl) and DNA sequencing. Strain lineages were determined by MIRU-VNTR genotyping. Of the 114 sputa, 46 were culture positive for MTBC. Twenty-one (46%) were resistant to one or more first-line antiTB drugs. Of these, 15 (71%) were multidrug resistant (MDR). The most prevalent mutations involved in rifampin and isoniazid resistance, D516V (60%) in rpoB and S315T (87%) in katG respectively, were well detected by MTBDRplus assay. All the 15 MDR strains were susceptible to fluoroquinolone and injectable second-line drug. No mutation was detected in the rrs locus involved in resistance to amikacin and capreomycin by both the MTBDRsl assay and DNA sequencing. By contrast, 9 MDR strains belonging to the same cluster related to T-family were identified as being falsely resistant to fluoroquinolone by the MTBDRsl assay due to the presence of a double substitution T80A-A90G in GyrA. Taken together, these data revealed a possible spread of a particular MDR clone in Congo, misidentified as fluoroquinolone resistant by MTBDRsl assay. Thus, this test cannot replace gold-standard culture method and should be interpreted carefully in view of the patient's native land.
Araújo, Clarissa Altina Cunha de; Paz-Lourido, Berta; Gelabert, Sebastià Verger
2016-10-01
Different types of supports to families are among the aspects that contribute to family quality of life. This study aims to identify the types of supports that families of children with disabilities, users of early intervention services, consider relevant and how public administration influences the quality of this support. This is a qualitative study based on a critical social paradigm. Sixteen mothers and four fathers were interviewed and their contributions were analyzed using discourse analysis. The importance of family support and networks of parents of children with disabilities were highlighted. The role of the supports by health professionals is also crucial and, therefore, cuts in public health and social services have exacerbated the inequity in health. In practice this is highlighted in relation to those who can and the ones who cannot afford additional services. Other approaches in the support to families are suggested.
Occurrence of four types of growth hormone-related dwarfism in Israeli communities.
Adam, A; Josefsberg, Z; Pertzelan, A; Zadik, Z; Chemke, J M; Laron, Z
1981-09-01
Data are presented on 121 dwarfed patients belonging to 98 Israeli families with 4 types of dwarfism related to deficiency or in activity of human growth hormone (hGH): isolated growth hormone deficiency (IGHD), partial hGH deficiency (pIGHD), multiple pituitary hormone deficiencies (MPHD) and Laron-type dwarfism (LTD). These series are believed to comprise most of the dwarfs of these types in Israel; however, their distribution among the various ethnic communities varies greatly: LTD (15 families) is confined to a few communities of Oriental Jews; only 3 of 30 families with IGHD, but 7 of 10 families with pIGHD, are Ashkenazi, whereas the clinic distribution of 42 families with MPHD corresponds roughly to that of the general population. These data seem to reflect the role of genetic factors in the etiology of the various types of dwarfism: the stronger the genetic component, the greater is its deviation from random occurrence among the various communities.
Ina, Yujiro; Kawabata, Yumiko; Sakamoto, Ryuichi; Sekiguchi, Naotaka; Ikegami, Hiroshi
2017-11-01
Multiplex families with type 1 diabetes are important for identification of rare variants that cannot be identified in case-control association studies. The very low incidence of type 1 diabetes in the Japanese population, however, makes identification of such families difficult. We identified a Japanese family in which three members developed type 1 diabetes, and studied the genotype of the human leukocyte antigen. All three members with type 1 diabetes had the DRB1*08:02-DQB1*03:02 haplotype, which is specific to the Asian population and strongly susceptible for type 1 diabetes. In particular, a proband and his sister had the same genotype, DRB1*08:02-DQB1*03:02/DRB1*08:02-DQB1*03:02, which is extremely rare even in the Japanese population. Both parents also had DRB1*08:02-DQB1*03:02, but in combination with different human leukocyte antigen haplotypes. Weakly susceptible DRB1*13:02-DQB1*06:04 was present in the affected mother, and resistant DRB1*15:01-DQB1*06:02 in the unaffected father. These data suggest DRB1*08:02-DQB1*03:02 to be a contributing factor for familial clustering of type 1 diabetes in this family. © 2017 The Authors. Journal of Diabetes Investigation published by Asian Association for the Study of Diabetes (AASD) and John Wiley & Sons Australia, Ltd.
Adopted Children and Discipline
... Pediatrician Family Life Medical Home Family Dynamics Adoption & Foster Care Communication & Discipline Types of Families Media Work & ... Community Healthy Children > Family Life > Family Dynamics > Adoption & Foster Care > Adopted Children & Discipline Family Life Listen Español ...
Lee, Dohoon; McLanahan, Sara
2015-08-01
A growing literature documents the importance of family instability for child wellbeing. In this article, we use longitudinal data from the Fragile Families and Child Wellbeing Study to examine the impacts of family instability on children's cognitive and socioemotional development in early and middle childhood. We extend existing research in several ways: (1) by distinguishing between the number and types of family structure changes; (2) by accounting for time-varying as well as time-constant confounding; and (3) by assessing racial/ethnic and gender differences in family instability effects. Our results indicate that family instability has a causal effect on children's development, but the effect depends on the type of change, the outcome assessed, and the population examined. Generally speaking, transitions out of a two-parent family are more negative for children's development than transitions into a two-parent family. The effect of family instability is stronger for children's socioemotional development than for their cognitive achievement. For socioemotional development, transitions out of a two-parent family are more negative for white children, whereas transitions into a two-parent family are more negative for Hispanic children. These findings suggest that future research should pay more attention to the type of family structure transition and to population heterogeneity.
Lee, Dohoon; McLanahan, Sara
2016-01-01
A growing literature documents the importance of family instability for child wellbeing. In this article, we use longitudinal data from the Fragile Families and Child Wellbeing Study to examine the impacts of family instability on children’s cognitive and socioemotional development in early and middle childhood. We extend existing research in several ways: (1) by distinguishing between the number and types of family structure changes; (2) by accounting for time-varying as well as time-constant confounding; and (3) by assessing racial/ethnic and gender differences in family instability effects. Our results indicate that family instability has a causal effect on children’s development, but the effect depends on the type of change, the outcome assessed, and the population examined. Generally speaking, transitions out of a two-parent family are more negative for children’s development than transitions into a two-parent family. The effect of family instability is stronger for children’s socioemotional development than for their cognitive achievement. For socioemotional development, transitions out of a two-parent family are more negative for white children, whereas transitions into a two-parent family are more negative for Hispanic children. These findings suggest that future research should pay more attention to the type of family structure transition and to population heterogeneity. PMID:27293242
Chesla, Catherine A; Fisher, Lawrence; Skaff, Marilyn M; Mullan, Joseph T; Gilliss, Catherine L; Kanter, Richard
2003-01-01
Family context is thought to influence chronic disease management but few studies have longitudinally examined these relationships. Research on families and chronic illness has focused almost exclusively on European American families. In this prospective study we tested a multidimensional model of family influence on disease management in type 2 diabetes in a bi-ethnic sample of European Americans and Latinos. Specifically, we tested how baseline family characteristics (structure, world view, and emotion management) predicted change in disease management over one year in 104 European American and 57 Latino patients with type 2 diabetes. We found that emotion management predicted change in disease management in both groups of patients as hypothesized, while family world view predicted change in both ethnic groups but in the predicted direction only for European Americans. Examining family context within ethnic groups is required to elucidate unique cultural patterns. Attending to culturally unique interpretations of constructs and measures is warranted. The import of family emotion management, specifically conflict resolution, in disease management deserves further study to support clinical intervention development. Examining multiple domains of family life and multidimensional health outcomes strengthens our capacity to develop theory about family contexts and individual health.
Code of Federal Regulations, 2013 CFR
2013-07-01
... 41 Public Contracts and Property Management 4 2013-07-01 2012-07-01 true If my immediate family... for the same non-employee family member? 302-3.202 Section 302-3.202 Public Contracts and Property... ALLOWANCE BY SPECIFIC TYPE Types of Transfers Relocation of Two Or More Employed Immediate Family Members...
Code of Federal Regulations, 2014 CFR
2014-07-01
... 41 Public Contracts and Property Management 4 2014-07-01 2014-07-01 false If my immediate family... for the same non-employee family member? 302-3.202 Section 302-3.202 Public Contracts and Property... ALLOWANCE BY SPECIFIC TYPE Types of Transfers Relocation of Two Or More Employed Immediate Family Members...
Code of Federal Regulations, 2010 CFR
2010-07-01
... 41 Public Contracts and Property Management 4 2010-07-01 2010-07-01 false If my immediate family... for the same non-employee family member? 302-3.202 Section 302-3.202 Public Contracts and Property... ALLOWANCE BY SPECIFIC TYPE Types of Transfers Relocation of Two Or More Employed Immediate Family Members...
Code of Federal Regulations, 2012 CFR
2012-07-01
... 41 Public Contracts and Property Management 4 2012-07-01 2012-07-01 false If my immediate family... for the same non-employee family member? 302-3.202 Section 302-3.202 Public Contracts and Property... ALLOWANCE BY SPECIFIC TYPE Types of Transfers Relocation of Two Or More Employed Immediate Family Members...
Code of Federal Regulations, 2011 CFR
2011-07-01
... 41 Public Contracts and Property Management 4 2011-07-01 2011-07-01 false If my immediate family... for the same non-employee family member? 302-3.202 Section 302-3.202 Public Contracts and Property... ALLOWANCE BY SPECIFIC TYPE Types of Transfers Relocation of Two Or More Employed Immediate Family Members...
The role of family nutritional support in Japanese patients with type 2 diabetes mellitus.
Watanabe, Koin; Kurose, Takeshi; Kitatani, Naomi; Yabe, Daisuke; Hishizawa, Masahiro; Hyo, Takanori; Seino, Yutaka
2010-01-01
We investigated the role of family support in glycemic control by nutritional self-care behavior of Japanese patients with type 2 diabetes. One hundred twelve Japanese out-patients with type 2 diabetes were recruited for the study at Kansai Electric Power Hospital. Interviews were conducted and HbA1c and triglyceride levels were measured. HbA1c levels were significantly related to family nutritional support. Patients under 60 years old with family nutritional support showed significantly lower HbA1c than patients without family support (p<0.05). Female patients with family support showed significantly lower HbA1c than those without family support (p<0.05). In addition, male patients with family support showed significantly lower triglyceride levels than those without family support (p<0.05). In male patients, those who were supported by cooking or buying light meals showed significantly lower HbA1c than those who were supported by advice or encouragement (p<0.05). The frequency of support (every day, 2-3 days, 1 week) showed similar outcomes in glycemic control. Patients who appreciate the support and follow the advice showed lower HbA1c (6.88 +/- 0.22%) than (7.43 +/- 0.23%) patients who appreciate the advice but sometimes feel emotional barriers. Family nutritional support is useful in improving metabolic outcome of diabetic patients. Self-care practice in disease management should be carefully adjusted to the family setting of type 2 diabetic patients. Emotional barriers to family support may affect the metabolic consequences, especially in the Japanese elderly.
Espectroscopía de Microondas en Jets Supersónicos
NASA Astrophysics Data System (ADS)
Alonso, J. L.; López, J. C.; Lesarri, A.; Blanco, S.; Sanz, M. E.; Mata, S.; Cocinero, J. E.; Sánchez, R.
Complejos con Enlace de Hidrógeno. El entorno de bajas temperaturas de una expansión supersónica es un excelente laboratorio para estudiar el comportamiento conformacional de los complejos con enlace de hidrógeno. Nuestro grupo ha observado por vez primera enlaces de hidrógeno axial y ecuatorial en los complejos de tetrahidropirano, sulfuro de pentametileno y sulfuro de trimetileno con HCl y HF [1-6] generados en las expansiones adiabáticas en He, Ne o Ar y caracterizados por espectroscopía de microondas con transformadas de Fouier. Existe controversia a la hora de considerar a las interacciones C-H\\cdotsO como enlaces de hidrógeno o como simples interacciones de van der Waals. Las interacciones C-H\\cdotsO han sido estudiadas en el dímero del dimetil eter generado en la expansión supersónica y caracterizado por espectroscopía de microondas [7]. Estas interacciones se han analizado en los complejos formados entre los alcanos sustituidos del trifluorometano y difluorometano con oxirano [8] caracterizándose la existencia de interacciones C-F\\cdotsH-C que contribuyen a la estabilización de estos complejos. Ablación Láser: Estructura de Aminoácidos. Los aminoácidos poseen puntos de fusión elevados (>200oC) y se presentan en fases condensadas como formas dipolares (+H3N-CH(R)-COO-) distintas de las neutras de las cadenas polipéptidas. Con el fin de obtener la estructura de estas formas neutras es necesario experimentar en fase gas, en un entorno libre de interacciones como el de una expansión supersónica. Para solventar el problema de su baja presión de vapor, se ha diseñado un nuevo instrumento que combina la espectroscopía de microondas en jet supersónicos con técnicas de ablación láser [9] que evita los métodos de vaporización por calentamiento que conducen a la descomposición de los aminoácidos. Diversos confórmeros de los aminoácidos naturales de la prolina [10], valina [11], cis- y trans- hidroxiprolina, serina, cisteina, ldots han sido caracterizados hasta el presente. Con este mismo dispositivo experimental de ablación láser ha sido igualmente posible generar clusters metálicos como los de Si3, Se-Te, ldots. entre otros. Moléculas generadas por descargas eléctricas. Utilizando diferentes precursores (1,1-difluoroetileno, trifluoroacetileno, acetileno, ldots) diversos fluoropoliinos [12] y fluorometilpoliinos [13] han sido por primera vez generados y caracterizados por sus espectros de rotación en la expansión adiabática de un instrumento de MBFTMW dotado de un dispositivo de descargas. Solvatación en fase gas. La formación de complejos de biomoléculas con agua en fase gas es de gran importancia para entender la naturaleza de la solvatación a escala microscópica. Los complejos indol\\cdotsH2O [14], glicina\\cdotsH2O (mediante ablación láser) azetidinona\\cdotsH2O, azetidinona\\cdots2H2O, ldots entre otros, han sido analizados en fase gas.
Family structure, victimization, and child mental health in a nationally representative sample.
Turner, Heather A; Finkelhor, David; Hamby, Sherry L; Shattuck, Anne
2013-06-01
Utilizing the 2008 National Survey of Children's Exposure to Violence (NatSCEV), the current study compares past year rates of 7 forms of child victimization (maltreatment, assault, peer victimization, property crime, witnessing family violence and exposure to community violence) across 3 different family structure types (two biological/adoptive parents, single parent, step/cohabiting family) among a representative sample of 4046 U.S. children ages 2-17. The study also considers whether certain social-contextual risk factors help to explain family structure variations in victimization, and the extent to which victimization exposure accounts for family structure differences in distress symptom levels. Findings showed significantly elevated rates of almost all types of victimization among children in both nontraditional family types, relative to those living with two biological/adoptive parents. Factors associated with increased victimization risk in these families include high parental conflict, drug or alcohol problems, family adversity, and community disorder. A summary measure of children's exposure to multiple forms of victimization was the strongest predictor of distress symptoms. Copyright © 2013 Elsevier Ltd. All rights reserved.
Shechner, T; Slone, M; Lobel, T E; Shechter, R
2013-03-01
This study examined differences in children's psychological and social indicators in non-traditional families in Israel, focusing on fatherless families headed by lesbian mothers and single mothers by choice. Although Israel is considered an industrialized westernized country, centrality of the traditional nuclear family predominates this country. This factorial design study included four family types: lesbian and heterosexual mothers, each in both single and coupled parenthood. Children's measures included the Child Behavior Checklist, perception of peer relations and perceived self-competence. Children from single parent as opposed to two-parent families exhibited more externalizing behaviour problems and aggressiveness. Children of lesbian mothers reported more prosocial behaviours and less loneliness than children from heterosexual families. No differences emerged for perceived self-competence across family types. Mother's sexual orientation did not affect children's adjustment negatively, whereas single parenthood placed children at greater risk for some difficulties. Implications include the need for apprising health professionals of effects of family types on children's development. © 2011 Blackwell Publishing Ltd.
NASA Technical Reports Server (NTRS)
Williams, James G.
1992-01-01
The Galileo flyby candidates 951 Gaspra and 243 Ida are both in families. The former is in a complex of families associated with 8 Flora and the latter is in the Koronis family. The Flora and the Koronis families are described. The Galileo spacecraft will have the opportunity to sample fragments from two types of impacts; one impact totally destroyed the parent body and the other left a large body behind. The types of Ss are also different, the colors of Gaspra and the other Ss in the complex of families near 8 Flora are much redder in U-V than Ida and the Ss of the Koronis family.
Clinical application of antenatal genetic diagnosis of osteogenesis imperfecta type IV.
Yuan, Jing; Li, Song; Xu, YeYe; Cong, Lin
2015-04-02
Clinical analysis and genetic testing of a family with osteogenesis imperfecta type IV were conducted, aiming to discuss antenatal genetic diagnosis of osteogenesis imperfecta type IV. Preliminary genotyping was performed based on clinical characteristics of the family members and then high-throughput sequencing was applied to rapidly and accurately detect the changes in candidate genes. Genetic testing of the III5 fetus and other family members revealed missense mutation in c.2746G>A, pGly916Arg in COL1A2 gene coding region and missense and synonymous mutation in COL1A1 gene coding region. Application of antenatal genetic diagnosis provides fast and accurate genetic counseling and eugenics suggestions for patients with osteogenesis imperfecta type IV and their families.
Qian, J; Yao, K; Xue, L; Xie, G; Zheng, Y; Wang, C; Shang, Y; Wang, H; Wan, L; Liu, L; Li, C; Ji, W; Wang, Y; Xu, P; Yu, S; Tang, Y-W; Yang, Y
2012-03-01
The objective of this paper was to investigate the sequence types (STs) and diversity of surface antigen pneumococcal surface protein A (PspA) in 171 invasive Streptococcus pneumoniae isolates from Chinese children. A total of 171 pneumococci isolates were isolated from Chinese children with invasive pneumococcal diseases (IPD) in 11 hospitals between 2006 and 2008. The pneumococci samples were characterized by serotyping, PspA classification, and multilocus sequence typing (MLST). The PspA of these strains could be assigned to two families. The PspA family 2 was the most common (120/171, 70.1%). No PspA family 3 isolates were detected. Family 1 could be subdivided into two clades, with 42 strains in clade 1 and 9 strains in clade 2, and family 2 could be subdivided into clades 3, 4, and 5, which respectively contained 5, 21, and 14 strains. In total, 65 STs were identified, of which ST320 (30/171, 17.5%), ST271 (23/171, 13.5%), and ST876 (18/171, 10.5%) were the most common types. PspA family 2 and family 1 were dominant among pneumococcal clones isolated from Chinese children with invasive disease. The strains with the same ST always presented in the same PspA family.
2006-04-01
Fig. 2B). In addition, luciferase assay on cells co-transfected with constructs expressing firefly and renilla luciferase genes showed a significant...positive cells. (C) BT474 cells were co-transfected with pGL3 plasmid expressing firefly luciferase, pRL plasmid expressing renilla luciferase, and...genes Per1 (A) and Bmal1 (B). BT474 cells were transfected with Per1 (A) and Bmal1 (B) firefly luciferase reporters, pRL plasmid expressing renilla
Ormeño-Orrillo, Ernesto; Rey, Luis; Durán, David; Canchaya, Carlos A; Zúñiga-Dávila, Doris; Imperial, Juan; Martínez-Romero, Esperanza; Ruiz-Argüeso, Tomás
2017-09-01
Bradyrhizobium sp. LMTR 3 is a representative strain of one of the geno(species) of diazotrophic symbionts associated with Lima bean ( Phaseolus lunatus ) in Peru. Its 7.83 Mb genome was sequenced using the Illumina technology and found to encode a complete set of genes required for nodulation and nitrogen fixation, and additional genes putatively involved in root colonization. Its draft genome sequence and annotation have been deposited at GenBank under the accession number MAXC00000000.
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Child victims and poly-victims in China: are they more at-risk of family violence?
Chan, Ko Ling
2014-11-01
Multiple forms of violence may co-occur on a child. These may include various forms of child victimization and different types of family violence. However, evidence that child victims are more likely to witness other types of family violence has been lacking in China. Using data of a large and diverse sample of children recruited from 6 regions in China during 2009 and 2010 (N=18,341; 47% girls; mean age=15.9 years), the associations between child victimization and family violence witnessed were examined. Descriptive statistics and the associations between child victimization, demographic characteristics, and family violence witnessed were analyzed. Lifetime and preceding-year rates were 71.7% and 60.0% for any form of child victimization and 14.0% and 9.2% for poly-victimization (having four or more types of victimization), respectively. Family disadvantages (i.e., lower socio-economic status, single parents, and having more than one child in the family) were associated with child victimization and poly-victimization. Witnessing of parental intimate partner violence, elder abuse, and in-law conflict also increased the likelihood of child victimization and poly-victimization, even after the adjustment of demographic factors. Possible mechanisms for the links between family violence and child victimization are discussed. The current findings indicated the need for focusing on the whole family rather than the victim only. For example, screening for different types of family violence when child victims are identified may help early detection of other victims within the family. Copyright © 2014 Elsevier Ltd. All rights reserved.
Adoptive Gay Father Families: Parent–Child Relationships and Children's Psychological Adjustment
Golombok, Susan; Mellish, Laura; Jennings, Sarah; Casey, Polly; Tasker, Fiona; Lamb, Michael E
2014-01-01
Findings are presented on a U.K. study of 41 gay father families, 40 lesbian mother families, and 49 heterosexual parent families with an adopted child aged 3–9 years. Standardized interview and observational and questionnaire measures of parental well-being, quality of parent–child relationships, child adjustment, and child sex-typed behavior were administered to parents, children, and teachers. The findings indicated more positive parental well-being and parenting in gay father families compared to heterosexual parent families. Child externalizing problems were greater among children in heterosexual families. Family process variables, particularly parenting stress, rather than family type were found to be predictive of child externalizing problems. The findings contribute to theoretical understanding of the role of parental gender and parental sexual orientation in child development. PMID:24033323
Inner city disadvantage and family functioning.
Clark, A F; Barrett, L; Kolvin, I
2000-06-01
The co-existence of types of social, environmental and family disadvantage and domains of family dysfunction is explored through individual interviews and use of the Family Assessment Device in a cross-sectional study of 143 inner city families. The dependence upon social welfare by the family and the overall degree of disadvantage experienced both correlate significantly with all forms of family dysfunction. Marital disruption, poor physical care of the home or of the child(ren) and poor quality of mothering correlate significantly with difficulties both in role allocation and in affective involvement. Those families suffering more types of environmental disadvantage are more likely also to be dysfunctional in each domain of family life. Some possible mechanisms for these associations are highlighted and their implications for planning of effective interventions discussed.
When to Tell Your Child About Adoption
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Two families from New England with usher syndrome type IC with distinct haplotypes.
DeAngelis, M M; McGee, T L; Keats, B J; Slim, R; Berson, E L; Dryja, T P
2001-03-01
To search for patients with Usher syndrome type IC among those with Usher syndrome type I who reside in New England. Genotype analysis of microsatellite markers closely linked to the USH1C locus was done using the polymerase chain reaction. We compared the haplotype of our patients who were homozygous in the USH1C region with the haplotypes found in previously reported USH1C Acadian families who reside in southwestern Louisiana and from a single family residing in Lebanon. Of 46 unrelated cases of Usher syndrome type I residing in New England, two were homozygous at genetic markers in the USH1C region. Of these, one carried the Acadian USH1C haplotype and had Acadian ancestors (that is, from Nova Scotia) who did not participate in the 1755 migration of Acadians to Louisiana. The second family had a haplotype that proved to be the same as that of a family with USH1C residing in Lebanon. Each of the two families had haplotypes distinct from the other. This is the first report that some patients residing in New England have Usher syndrome type IC. Patients with Usher syndrome type IC can have the Acadian haplotype or the Lebanese haplotype compatible with the idea that at least two independently arising pathogenic mutations have occurred in the yet-to-be identified USH1C gene.
Jonas, Susanna; Wild, Claudia; Schamberger, Chantal
2003-02-01
The aim of this health technology assessment was to analyse the current scientific and genetic counselling on predictive genetic testing for hereditary breast and colorectal cancer. Predictive genetic testing will be available for several common diseases in the future and questions related to financial issues and quality standards will be raised. This report is based on a systematic/nonsystematic literature search in several databases (e.g. EmBase, Medline, Cochrane Library) and on a specific health technology assessment report (CCOHTA) and review (American Gastroenterological Ass.), respectively. Laboratory test methods, early detection methods and the benefit from prophylactic interventions were analysed and social consequences interpreted. Breast and colorectal cancer are counted among the most frequently cancer diseases. Most of them are based on random accumulation of risk factors, 5-10% show a familial determination. A hereditary modified gene is responsible for the increased cancer risk. In these families, high tumour frequency, young age at diagnosis and multiple primary tumours are remarkable. GENETIC DIAGNOSIS: Sequence analysis is the gold standard. Denaturing high performance liquid chromatography is a quick alternative method. The identification of the responsible gene defect in an affected family member is important. If the test result is positive there is an uncertainty whether the disease will develop or not, when and in which degree, which is founded in the geno-/phenotype correlation. The individual risk estimation is based upon empirical evidence. The test results affect the whole family. Currently, primary prevention is possible for familial adenomatous polyposis (celecoxib, prophylactic colectomy) and for hereditary mamma carcinoma (prophylactic mastectomy). The so-called preventive medical check-ups are early detection examinations. The evidence about early detection methods for colorectal cancer is better than for breast cancer. Prophylactic mastectomy (PM) reduces the relative breast cancer risk by approximately 90%. The question is if PM has an impact on mortality. The acceptance of PM is culture-dependent. Colectomy can be used as a prophylactic (FAP) and therapeutic method. After surgery, the cancer risk remains high and so early detection examinations are still necessary. EVIDENCE-BASED STATEMENTS: The evidence is often fragmentary and of limited quality. For objective test result presentation information about sensitivity, specificity, positive predictive value, and number needed to screen and treat, respectively, are necessary. New identification of mutations and demand will lead to an increase of predictive genetic counselling and testing. There is a gap between predictive genetic diagnosis and prediction, prevention, early detection and surgical interventions. These circumstances require a basic strategy. Since predictive genetic diagnosis is a very sensitive issue it is important to deal with it carefully in order to avoid inappropriate hopes. Thus, media, experts and politicians need to consider opportunities and limitations in their daily decision-making processes.
A nomenclator of extant and fossil taxa of the Melanopsidae (Gastropoda, Cerithioidea)
Neubauer, Thomas A.
2016-01-01
Abstract This nomenclator provides details on all published names in the family-, genus-, and species-group, as well as for a few infrasubspecific names introduced for, or attributed to, the family Melanopsidae. It includes nomenclaturally valid names, as well as junior homonyms, junior objective synonyms, nomina nuda, common incorrect subsequent spellings, and as far as possible discussion on the current status in taxonomy. The catalogue encompasses three family-group names, 79 genus-group names, and 1381 species-group names. All of them are given in their original combination and spelling (except mandatory corrections requested by the Code), along with their original source. For each family- and genus-group name, the original classification and the type genus and type species, respectively, are given. Data provided for species-group taxa are type locality, type horizon (for fossil taxa), and type specimens, as far as available. PMID:27551193
Familism, Family Environment, and Suicide Attempts among Latina Youth
ERIC Educational Resources Information Center
Pena, Juan B.; Kuhlberg, Jill A.; Zayas, Luis H.; Baumann, Ana A.; Gulbas, Lauren; Hausmann-Stabile, Carolina; Nolle, Allyson P.
2011-01-01
In this study, we examined the relationship between familism and family environment type as well as the relationship between family environment type and suicide attempts among Latina youth. Latina teen attempters (n = 109) and nonattempters (n = 107) were recruited from the New York City area. Latent class analysis revealed three family…
Language Transmission Revisited: Family Type, Linguistic Environment and Language Attitudes
ERIC Educational Resources Information Center
Schupbach, Doris
2009-01-01
This article revisits factors in intergenerational language maintenance and shift within the family. It does so through an in-depth analysis of what 14 migrants to Australia from German-speaking Switzerland reported in written life stories and subsequent life story interviews. The participants represent four family types and a wide age range, and…
ERIC Educational Resources Information Center
Duxbury, Linda; Higgins, Chris
The effects of three types of work-life conflict in Canada were examined by using data from a set of work and family studies that were conducted in 1991 and 2001. The studies focused on the effects of the following types of conflict: (1) work overload; (2) work-to-family interference (where work gets in the way of family); and (3) family-to-work…
ERIC Educational Resources Information Center
Shobola, A. A.; Nwoha, P. C.
2013-01-01
This piece of article is culled from a larger study. The study investigated the relationship between family-work conflict, Type-E personality and stress in married female Nigerian University Administrators. The study adopted ex-post facto design. The sample consisted of 800 female administrators in the senior cadre of executive/administrative…
Purcell, M.K.; LaPatra, S.E.; Woodson, J.C.; Kurath, G.; Winton, J.R.
2010-01-01
The main objective of this study was to assess correlates of innate resistance in rainbow trout full-sibling families that differ in susceptibility to Infectious hematopoietic necrosis virus (IHNV). As part of a commercial breeding program, full-sibling families were challenged with IHNV by waterborne exposure at the 1 g size to determine susceptibility to IHNV. Progeny from select families (N = 7 families) that varied in susceptibility (ranging from 32 to 90% cumulative percent mortality (CPM)) were challenged again at the 10 g size by intra-peritoneal injection and overall mortality, early viral replication and immune responses were evaluated. Mortality challenges included 20–40 fish per family while viral replication and immune response studies included 6 fish per family at each time point (24, 48 and 72 h post-infection (hpi)). CPM at the 1 g size was significantly correlated with CPM at the 10 g size, indicating that inherent resistance was a stable trait irrespective of size. In the larger fish, viral load was measured by quantitative reverse-transcriptase PCR in the anterior kidney and was a significant predictor of family disease outcome at 48 hpi. Type I interferon (IFN) transcript levels were significantly correlated with an individual's viral load at 48 and 72 hpi, while type II IFN gene expression was significantly correlated with an individual's viral load at 24 and 48 hpi. Mean family type I but not type II IFN gene expression was weakly associated with susceptibility at 72 hpi. There was no association between mean family susceptibility and the constitutive expression of a range of innate immune genes (e.g. type I and II IFN pathway genes, cytokine and viral recognition receptor genes). The majority of survivors from the challenge had detectable serum neutralizing antibody titers but no trend was observed among families. This result suggests that even the most resistant families experienced sufficient levels of viral replication to trigger specific immunity. In summary, disease outcome for each family was determined very early in the infection process and resistance was associated with lower early viral replication.
Some Exact Solutions of a Nonintegrable Toda-type Equation
NASA Astrophysics Data System (ADS)
Kim, Chanju
2018-05-01
We study a Toda-type equation with two scalar fields which is not integrable and construct two families of exact solutions which are expressed in terms of rational functions. The equation appears in U(1) Chern-Simons theories coupled to two nonrelativistic matter fields with opposite charges. One family of solutions is a trivial embedding of Liouville-type solutions. The other family is obtained by transforming the equation into the Taubes vortex equation on the hyperbolic space. Though the Taubes equation is not integrable, a trivial vacuum solution provides nontrivial solutions to the original Toda-type equation.
[A study on family pattern and psychological aspects of parent and child].
Seo, M H; Hong, M S
1988-12-01
This study reviews the relationship between family patterns and psychological aspects of the mother-child relationship. As the population increase in Korea will reach 50 million in 2020, population policy must deal with population quality. The data come from 118 5th and 6th grade students and their mothers. Survey results shows that the number of children and the family type are related to mothers' child rearing attitudes. Mothers in nuclear families tended to be warmer and freer towards their children than others. Family type was not related to the self-esteem of children, and the number of siblings showed a weak relationship. Children with siblings have stronger self-esteem. Birth order and younger sibling spacing had a stronger relationship with self-esteem. First borns and those who had younger siblings within a 2-year interval had the weakest self-esteem. Since families are becoming smaller, child quality is becoming more important. Not only family size but also family type, birth order, and spacing need to be considered for the psychological well-being of the population.
Family caregiver communication in oncology: advancing a typology.
Goldsmith, Joy; Wittenberg, Elaine; Platt, Christine Small; Iannarino, Nicholas T; Reno, Jenna
2016-04-01
The quality of communication between the patient and family caregiver impacts quality of life and well-being for the two; however, providers have few tools to understand communication patterns and assess the communication needs and preferences of caregivers. The aims of this study were to examine family communication patterns among oncology patients and their caregivers and to identify common characteristics among four different types of family caregivers. Nurses recruited oncology patient-caregiver dyads through a large cancer treatment center in the Southeast. Patients and caregivers were separated from one another and interviewed during chemotherapeutic infusions. Interviews were recorded, transcribed, coded, and thematized. A sample of 24 patients and their caregivers (n = 48) were interviewed. The majority of dyads (21, 88%) shared the same family communication pattern. Common caregiver communication features support previous work identifying four caregiver communication types: Manager, Carrier, Partner, and Lone caregivers. Manager caregivers lead patients by utilizing extensive medical knowledge, whereas Carrier caregivers were led by patients and described tireless acts to maintain the family and avoid difficult conversations. Partner caregivers facilitated family involvement and open communication on a variety of topics, while Lone caregivers focused solely on biomedical matters and a hope for cure. Caregiver communication types were corroborated by patient-caregiver descriptions of caregiving. However, more information is needed to ascertain the variables associated with each caregiver type. Future work to improve identification of caregiver types and create targeted caregiver care plans will require further study of health literacy levels and tested communication interventions per type. Copyright © 2015 John Wiley & Sons, Ltd.
Hannighofer, Jasmin; Foran, Heather; Hahlweg, Kurt; Zimmermann, Tanja
2017-01-01
Mothers and children of single or unstable relationships have higher rates of mental health problems than those in stable two-parent families. Despite results that mothers and children of conflictual two-parent families also show impairments, most studies do not consider relationship quality. Therefore, the present study combines relationship status and relationship quality to a "family type." The present study compares German mothers and children of two-parent families with high relationship quality to those from two-parent families with a low quality, single mothers, and unstable families. Data of n = 249 families from a 10-year follow-up longitudinal study show that mothers with a high relationship quality show the highest levels of mental health whereas all other groups show at least a 3.2 times higher probability of mental health symptoms. Children of mothers in unstable relationships show a 8.2 times higher probability to emotional or behavioral problems than children of mothers with high relationship quality. Therefore, not only relationship status but also relationship quality should be combined and this "family type" should be considered in future research.
Detection of mycobacteria in aquarium fish in Slovenia by culture and molecular methods.
Pate, M; Jencic, V; Zolnir-Dovc, M; Ocepek, M
2005-04-06
Thirty-five aquarium fish were investigated for the presence of mycobacteria by culture and molecular methods. The following species were examined: goldfish Carassius auratus auratus, guppy Poecilia reticulata, 4 three-spot gourami Trichogaster trichopterus, dwarf gourami Colisa lalia, Siamese fighting fish Betta splendens, freshwater angelfish Pterophyllum scalare, African cichlid fish Cichlidae spp., cichlid fish Microgeophagus altispinosus, cichlid fish Pseudotropheus lombardoi, blue streak hap Labidochromis caeruleus, sterlet Acipenser ruthenus, southern platyfish Xiphophorus maculatus, and catfish Corydoras spp. Isolates of mycobacteria were obtained in 29 cases (82.9%). Two specimens were positive using Ziehl-Neelsen (ZN) staining, but the cultivation failed. Four specimens were both ZN- and culture-negative. On the basis of GenoType Mycobacterium assay (Hain Life-science) and restriction enzyme analysis of the amplified products (PCR-RFLP), 23 isolates (79.3%) were identified: 7 as Mycobacterium fortuitum, 6 as M. gordonae, 6 as M. marinum, 3 as M. chelonae, and 1 as M. peregrinum. Five isolates remained unidentified (Mycobacterium spp.). One case probably represented a mixed infection (M. marinum/M. fortuitum). Since M. marinum infections are also detected in humans, the significance of mycobacteria in aquarium fish should not be overlooked.
Aller, E; Jaijo, T; Oltra, S; Alió, J; Galán, F; Nájera, C; Beneyto, M; Millán, J M
2004-12-01
Usher syndrome type III is an autosomal recessive disorder clinically characterized by the association of retinitis pigmentosa (RP), variable presence of vestibular dysfunction and progressive hearing loss, being the progression of the hearing impairment the critical parameter classically used to distinguish this form from Usher syndrome type I and Usher syndrome type II. Usher syndrome type III clinical subtype is the rarest form of Usher syndrome in Spain, accounting only for 6% of all Usher syndrome Spanish cases. The gene responsible for Usher syndrome type III is named clarin-1 and it is thought to be involved in hair cell and photoreceptor cell synapses. Here, we report a screening for mutations in clarin-1 gene among our series of Usher syndrome Spanish patients. Clarin-1 has been found to be responsible for the disease in only two families: the first one is a previously reported family homozygous for Y63X mutation and the second one, described here, is homozygous for C40G. This accounts for 1.7% of Usher syndrome Spanish families. It is noticeable that, whereas C40G family is clinically compatible with Usher syndrome type III due to the progression of the hearing loss, Y63X family could be diagnosed as Usher syndrome type I because the hearing impairment is profound and stable. Thus, we consider that the progression of hearing loss is not the definitive key parameter to distinguish Usher syndrome type III from Usher syndrome type I and Usher syndrome type II.
Code of Federal Regulations, 2010 CFR
2010-07-01
... 41 Public Contracts and Property Management 4 2010-07-01 2010-07-01 false If my immediate family... Contracts and Property Management Federal Travel Regulation System RELOCATION ALLOWANCES RELOCATION ALLOWANCES 3-RELOCATION ALLOWANCE BY SPECIFIC TYPE Types of Transfers Prior Return of Immediate Family...
Code of Federal Regulations, 2011 CFR
2011-07-01
... 41 Public Contracts and Property Management 4 2011-07-01 2011-07-01 false If my immediate family... Contracts and Property Management Federal Travel Regulation System RELOCATION ALLOWANCES RELOCATION ALLOWANCES 3-RELOCATION ALLOWANCE BY SPECIFIC TYPE Types of Transfers Prior Return of Immediate Family...
Code of Federal Regulations, 2014 CFR
2014-07-01
... 41 Public Contracts and Property Management 4 2014-07-01 2014-07-01 false If my immediate family... Contracts and Property Management Federal Travel Regulation System RELOCATION ALLOWANCES RELOCATION ALLOWANCES 3-RELOCATION ALLOWANCE BY SPECIFIC TYPE Types of Transfers Prior Return of Immediate Family...
Code of Federal Regulations, 2012 CFR
2012-07-01
... 41 Public Contracts and Property Management 4 2012-07-01 2012-07-01 false If my immediate family... Contracts and Property Management Federal Travel Regulation System RELOCATION ALLOWANCES RELOCATION ALLOWANCES 3-RELOCATION ALLOWANCE BY SPECIFIC TYPE Types of Transfers Prior Return of Immediate Family...
Code of Federal Regulations, 2013 CFR
2013-07-01
... 41 Public Contracts and Property Management 4 2013-07-01 2012-07-01 true If my immediate family... Contracts and Property Management Federal Travel Regulation System RELOCATION ALLOWANCES RELOCATION ALLOWANCES 3-RELOCATION ALLOWANCE BY SPECIFIC TYPE Types of Transfers Prior Return of Immediate Family...
ERIC Educational Resources Information Center
Pant, Mohan Dev
2011-01-01
The Burr families (Type III and Type XII) of distributions are traditionally used in the context of statistical modeling and for simulating non-normal distributions with moment-based parameters (e.g., Skew and Kurtosis). In educational and psychological studies, the Burr families of distributions can be used to simulate extremely asymmetrical and…
Family Environments and Adaptation: A Clinically Applicable Typology.
ERIC Educational Resources Information Center
Billings, Andrew G.; Moos, Rudolf H.
1982-01-01
Presents a typology of family environments based on multidimensional assessments of a representative sample of community families. Identified seven family types. Found family differences in environmental stressors and coping resources affected family members' levels of functioning. Discusses clinical and research applications of the typology.…
I-Ching, dyadic groups of binary numbers and the geno-logic coding in living bodies.
Hu, Zhengbing; Petoukhov, Sergey V; Petukhova, Elena S
2017-12-01
The ancient Chinese book I-Ching was written a few thousand years ago. It introduces the system of symbols Yin and Yang (equivalents of 0 and 1). It had a powerful impact on culture, medicine and science of ancient China and several other countries. From the modern standpoint, I-Ching declares the importance of dyadic groups of binary numbers for the Nature. The system of I-Ching is represented by the tables with dyadic groups of 4 bigrams, 8 trigrams and 64 hexagrams, which were declared as fundamental archetypes of the Nature. The ancient Chinese did not know about the genetic code of protein sequences of amino acids but this code is organized in accordance with the I-Ching: in particularly, the genetic code is constructed on DNA molecules using 4 nitrogenous bases, 16 doublets, and 64 triplets. The article also describes the usage of dyadic groups as a foundation of the bio-mathematical doctrine of the geno-logic code, which exists in parallel with the known genetic code of amino acids but serves for a different goal: to code the inherited algorithmic processes using the logical holography and the spectral logic of systems of genetic Boolean functions. Some relations of this doctrine with the I-Ching are discussed. In addition, the ratios of musical harmony that can be revealed in the parameters of DNA structure are also represented in the I-Ching book. Copyright © 2017 Elsevier Ltd. All rights reserved.
Herszberg, B; McCue, M E; Larcher, T; Mata, X; Vaiman, A; Chaffaux, S; Chérel, Y; Valberg, S J; Mickelson, J R; Guérin, G
2009-02-01
Glycogen storage diseases or glycogenoses are inherited diseases caused by abnormalities of enzymes that regulate the synthesis or degradation of glycogen. Deleterious mutations in many genes of the glyco(geno)lytic or the glycogenesis pathways can potentially cause a glycogenosis, and currently mutations in fourteen different genes are known to cause animal or human glycogenoses, resulting in myopathies and/or hepatic disorders. The genetic bases of two forms of glycogenosis are currently known in horses. A fatal neonatal polysystemic type IV glycogenosis, inherited recessively in affected Quarter Horse foals, is due to a mutation in the glycogen branching enzyme gene (GBE1). A second type of glycogenosis, termed polysaccharide storage myopathy (PSSM), is observed in adult Quarter Horses and other breeds. A severe form of PSSM also occurs in draught horses. A mutation in the skeletal muscle glycogen synthase gene (GYS1) was recently reported to be highly associated with PSSM in Quarter Horses and Belgian draught horses. This GYS1 point mutation appears to cause a gain-of-function of the enzyme and to result in the accumulation of a glycogen-like, less-branched polysaccharide in skeletal muscle. It is inherited as a dominant trait. The aim of this work was to test for possible associations between genetic polymorphisms in four candidate genes of the glycogen pathway or the GYS1 mutation in Cob Normand draught horses diagnosed with PSSM by muscle biopsy.
Identification of families among highly inclined asteroids
NASA Astrophysics Data System (ADS)
Gil-Hutton, R.
2006-07-01
A dataset of 3652 high-inclination numbered asteroids was analyzed to search for dynamical families. A fully automated multivariate data analysis technique was applied to identify the groupings. Thirteen dynamical families and twenty-two clumps were found. When taxonomic information is available, the families show cosmochemical consistency and support an interpretation based on a common origin from a single parent body. Four families and three clumps found in this work show a size distribution which is compatible with a formation due to a cratering event on the largest member of the family, and also three families have B- or related taxonomic types members, which represents a 14% of the B-types classified by Bus and Binzel [2002. Icarus 158, 146-177].
Children's Gender Identity in Lesbian and Heterosexual Two-Parent Families.
Bos, Henny; Sandfort, Theo G M
2010-01-01
This study compared gender identity, anticipated future heterosexual romantic involvement, and psychosocial adjustment of children in lesbian and heterosexual families; it was furthermore assessed whether associations between these aspects differed between family types. Data were obtained in the Netherlands from children in 63 lesbian families and 68 heterosexual families. All children were between 8 and 12 years old. Children in lesbian families felt less parental pressure to conform to gender stereotypes, were less likely to experience their own gender as superior and were more likely to be uncertain about future heterosexual romantic involvement. No differences were found on psychosocial adjustment. Gender typicality, gender contentedness and anticipated future heterosexual romantic involvement were significant predictors of psychosocial adjustment in both family types.
Women and children last: the poverty and marginalization of one-parent families.
Winchester, H P
1990-01-01
The spatial distribution and socioeconomic status of one-parent families in Great Britain and Australia are described, and reasons for the increase in this type of family are analyzed. The author finds that "one-parent families, largely composed of women and children, constitute one of the most rapidly-growing family types. Evidence from Britain and Australia reveals their extreme marginalization in the labour market, and their concentration into public housing. These problems are related to patriarchal structures within society, particularly the expectations of traditional gender roles and the segregation of women's job opportunities." excerpt
Ferreira, V.; Barbosa, J.; Stasiewicz, M.; Vongkamjan, K.; Moreno Switt, A.; Hogg, T.; Gibbs, P.; Teixeira, P.; Wiedmann, M.
2011-01-01
The persistence of Listeria monocytogenes in food-associated environments represents a key factor in transmission of this pathogen. To identify persistent and transient strains associated with production of fermented meat sausages in northern Portugal, 1,723 L. monocytogenes isolates from raw material and finished products from 11 processors were initially characterized by random amplification of polymorphic DNA (RAPD), PCR-based molecular serotyping, and epidemic clone characterization, as well as cadmium, arsenic, and tetracycline resistance typing. Pulsed-field gel electrophoresis (PFGE) typing of 240 representative isolates provided evidence for persistence of L. monocytogenes for periods of time ranging from 10 to 32 months for all seven processors for which isolates from different production dates were available. Among 50 L. monocytogenes isolates that included one representative for each PFGE pattern obtained from a given sample, 12 isolates showed reduced invasion efficiency in Caco-2 cells, including 8 isolates with premature stop codons in inlA. Among 41 isolates representing sporadic and persistent PFGE types, 22 isolates represented lysogens. Neither strains with reduced invasion nor lysogens were overrepresented among persistent isolates. While the susceptibility of isolates to lysogenic phages also did not correlate with persistence, it appeared to be associated with molecular serotype. Our data show the following. (i) RAPD may not be suitable for analysis of large sets of L. monocytogenes isolates. (ii) While a large diversity of L. monocytogenes subtypes is found in Portuguese fermented meat sausages, persistence of L. monocytogenes in this food chain is common. (iii) Persistent L. monocytogenes strains are diverse and do not appear to be characterized by unique genetic or phenotypic characteristics. PMID:21378045
[The medical social aspects of childhood traumatism accounting the family type].
2012-01-01
In the Russian Federation the childhood traumatism is considered as one of progressing social dangers. The interest in studying the impact of family type on childhood morbidity formation is increased during last years. The family is a fundamental principle of mechanisms of public health formation. The questionnaire poll of parents of children suffered from traumas provides the data concerning the medical social risk factors impacting the level of childhood traumatism. The one of the most important prevention measures is the impact on the family.
Pace of Coreceptor Tropism Switch in HIV-1-Infected Individuals after Recent Infection.
Arif, Muhammad Shoaib; Hunter, James; Léda, Ana Rachel; Zukurov, Jean Paulo Lopes; Samer, Sadia; Camargo, Michelle; Galinskas, Juliana; Kallás, Esper Georges; Komninakis, Shirley Vasconcelos; Janini, Luiz Mario; Sucupira, Maria Cecilia; Diaz, Ricardo Sobhie
2017-10-01
HIV-1 entry into target cells influences several aspects of HIV-1 pathogenesis, including viral tropism, HIV-1 transmission and disease progression, and response to entry inhibitors. The evolution from CCR5- to CXCR4-using strains in a given human host is still unpredictable. Here we analyzed timing and predictors for coreceptor evolution among recently HIV-1-infected individuals. Proviral DNA was longitudinally evaluated in 66 individuals using Geno2pheno [coreceptor] Demographics, viral load, CD4 + and CD8 + T cell counts, CCR5Δ32 polymorphisms, GB virus C (GBV-C) coinfection, and HLA profiles were also evaluated. Ultradeep sequencing was performed on initial samples from 11 selected individuals. A tropism switch from CCR5- to CXCR4-using strains was identified in 9/49 (18.4%) individuals. Only a low baseline false-positive rate (FPR) was found to be a significant tropism switch predictor. No minor CXCR4-using variants were identified in initial samples of 4 of 5 R5/non-R5 switchers. Logistic regression analysis showed that patients with an FPR of >40.6% at baseline presented a stable FPR over time whereas lower FPRs tend to progressively decay, leading to emergence of CXCR4-using strains, with a mean evolution time of 27.29 months (range, 8.90 to 64.62). An FPR threshold above 40.6% determined by logistic regression analysis may make it unnecessary to further determine tropism for prediction of disease progression related to emergence of X4 strains or use of CCR5 antagonists. The detection of variants with intermediate FPRs and progressive FPR decay over time not only strengthens the power of Geno2pheno in predicting HIV tropism but also indirectly confirms a continuous evolution from earlier R5 variants toward CXCR4-using strains. IMPORTANCE The introduction of CCR5 antagonists in the antiretroviral arsenal has sparked interest in coreceptors utilized by HIV-1. Despite concentrated efforts, viral and human host features predicting tropism switch are still poorly understood. Limited longitudinal data are available to assess the influence that these factors have on predicting tropism switch and disease progression. The present study describes longitudinal tropism evolution in a group of recently HIV-infected individuals to determine the prevalence and potential correlates of tropism switch. We demonstrated here that a low baseline FPR determined by the Geno2pheno [coreceptor] algorithm can predict tropism evolution from CCR5 to CXCR4 coreceptor use. Copyright © 2017 American Society for Microbiology.
Edwards, Valerie J; Holden, George W; Felitti, Vincent J; Anda, Robert F
2003-08-01
This study examined the prevalence of a history of various combinations of childhood maltreatment types (physical abuse, sexual abuse, and witnessing of maternal battering) among adult members of a health maintenance organization (HMO) and explored the relationship with adult mental health of the combinations of types of childhood maltreatment and emotional abuse in the childhood family environment. A total of 8,667 adult members of an HMO completed measures of childhood exposure to family dysfunction, which included items on physical and sexual abuse, witnessing of maternal battering, and emotional abuse in the childhood family environment. The adults' current mental health was assessed by using the mental health scale of the Medical Outcomes Study 36-item Short-Form Health Survey. The prevalences of sexual abuse, physical abuse, and witnessing of maternal violence were 21.6%, 20.6%, and 14.0%, respectively, when the maltreatment types were considered separately. Among respondents reporting any of the maltreatment types, 34.6% reported more than one type of maltreatment. Lower mean mental health scores were associated with higher numbers of abuse categories (mean=78.5, 75.5, 72.8, and 69.9 for respondents with no, one, two, and three abuse types, respectively). Both an emotionally abusive family environment and the interaction of an emotionally abusive family environment with the various maltreatment types had a significant effect on mental health scores. Childhood physical and sexual abuse, as well as witnessing of maternal battering, were common among the adult members of an HMO in this study. Among those reporting any maltreatment, more than one-third had experienced more than one type of maltreatment. A dose-response relation was found between the number of types of maltreatment reported and mental health scores. In addition, an emotionally abusive family environment accentuated the decrements in mental health scores. Future research examining the effects of childhood maltreatment on adult mental health should include assessments of a wide range of abusive experiences, as well as the family atmosphere in which they occur.
Adoptive gay father families: parent-child relationships and children's psychological adjustment.
Golombok, Susan; Mellish, Laura; Jennings, Sarah; Casey, Polly; Tasker, Fiona; Lamb, Michael E
2014-01-01
Findings are presented on a U.K. study of 41 gay father families, 40 lesbian mother families, and 49 heterosexual parent families with an adopted child aged 3-9 years. Standardized interview and observational and questionnaire measures of parental well-being, quality of parent-child relationships, child adjustment, and child sex-typed behavior were administered to parents, children, and teachers. The findings indicated more positive parental well-being and parenting in gay father families compared to heterosexual parent families. Child externalizing problems were greater among children in heterosexual families. Family process variables, particularly parenting stress, rather than family type were found to be predictive of child externalizing problems. The findings contribute to theoretical understanding of the role of parental gender and parental sexual orientation in child development. © 2013 The Authors. Child Development © 2013 Society for Research in Child Development, Inc.
Fragile Families in the American Welfare State
Garfinkel, Irwin; Zilanawala, Afshin
2016-01-01
The proportion of children born out of wedlock is now over 40 percent. At birth, about half of these parents are co-habiting. This paper examines data from the Fragile Families and Child Wellbeing study (N = 4,271) to describe for the first time the role of welfare state benefits in the economic lives of married, cohabiting, and single parent families with young children. Surprisingly, total welfare state benefits received by the three family types are relatively similar. Nearly half of the full incomes of fragile families come from welfare state transfers. For single parent families the proportion is slightly more than two thirds. Though aggregate welfare state transfers are approximately equal across family type and thus change very little as marital status changes, these transfers and the taxes required to finance them cushion family status changes and substantially narrow the gap in full income between married and fragile families. PMID:27114616
Social networks and links to isolation and loneliness among elderly HCBS clients.
Medvene, Louis J; Nilsen, Kari M; Smith, Rachel; Ofei-Dodoo, Samuel; DiLollo, Anthony; Webster, Noah; Graham, Annette; Nance, Anita
2016-01-01
The purpose of this study was to explore the network types of HCBS clients based on the structural characteristics of their social networks. We also examined how the network types were associated with social isolation, relationship quality and loneliness. Forty personal interviews were carried out with HCBS clients to assess the structure of their social networks as indicated by frequency of contact with children, friends, family and participation in religious and community organizations. Hierarchical cluster analysis was conducted to identify network types. Four network types were found including: family (n = 16), diverse (n = 8), restricted (n = 8) and religious (n = 7). Family members comprised almost half of participants' social networks, and friends comprised less than one-third. Clients embedded in family, diverse and religious networks had significantly more positive relationships than clients embedded in restricted networks. Clients embedded in restricted networks had significantly higher social isolation scores and were lonelier than clients in diverse and family networks. The findings suggest that HCBS clients' isolation and loneliness are linked to the types of social networks in which they are embedded. The findings also suggest that clients embedded in restricted networks are at high risk for negative outcomes.
Locus heterogeneity for Waardenburg syndrome is predictive of clinical subtypes.
Farrer, L A; Arnos, K S; Asher, J H; Baldwin, C T; Diehl, S R; Friedman, T B; Greenberg, J; Grundfast, K M; Hoth, C; Lalwani, A K
1994-10-01
Waardenburg syndrome (WS) is a dominantly inherited and clinically variable syndrome of deafness, pigmentary changes, and distinctive facial features. Clinically, WS type I (WS1) is differentiated from WS type II (WS2) by the high frequency of dystopia canthorum in the family. In some families, WS is caused by mutations in the PAX3 gene on chromosome 2q. We have typed microsatellite markers within and flanking PAX3 in 41 WS1 kindreds and 26 WS2 kindreds in order to estimate the proportion of families with probable mutations in PAX3 and to study the relationship between phenotypic and genotypic heterogeneity. Evaluation of heterogeneity in location scores obtained by multilocus analysis indicated that WS is linked to PAX3 in 60% of all WS families and in 100% of WS1 families. None of the WS2 families were linked. In those families in which equivocal lod scores (between -2 and +1) were found, PAX3 mutations have been identified in 5 of the 15 WS1 families but in none of the 4 WS2 families. Although preliminary studies do not suggest any association between the phenotype and the molecular pathology in 20 families with known PAX3 mutations and in four patients with chromosomal abnormalities in the vicinity of PAX3, the presence of dystopia in multiple family members is a reliable indicator for identifying families likely to have a defect in PAX3.
Hernandez, Daphne C; Pressler, Emily
2015-04-01
To investigate precursors to gender-related obesity disparities by examining multiple family-level stress indices. Analyses was based on adolescents born between 1975 and 1991 to women from the 1979 National Longitudinal Study of Youth data set (N=4762). Three types of family-level stressors were captured from birth to age 15: family disruption and conflict, financial strain, and maternal risky health behaviors, along with a total cumulative risk index. Body mass index was constructed on reference criteria for children outlined by the Centers for Disease Control. Multivariate logistic regressions were conducted for the three types of family stressors and for the total cumulative index. The accumulation of family disruption and conflict and financial stress was positively related to female adolescents being overweight/obese. Childhood exposure to maternal risky health behaviors was positively associated with higher weight status for male adolescents. Total cumulative stress was related to overweight/obesity for females, but not males. Different family-level stress indices are associated with the weight status of female and male adolescents. Combining types of family-level stress into one cumulative index appears to mask these differences. Copyright © 2015 Elsevier Inc. All rights reserved.
Sañudo, C; Alfonso, M; San Julián, R; Thorkelsson, G; Valdimarsdottir, T; Zygoyiannis, D; Stamataris, C; Piasentier, E; Mills, C; Berge, P; Dransfield, E; Nute, G R; Enser, M; Fisher, A V
2007-04-01
This paper describes the responses of consumers in six European countries (Greece, Italy, Spain, France, Iceland and United Kingdom) tasting meat from twelve different local types of lambs produced in those same six countries. Animals represented 10 breeds and crossbreeds, three sexes, several diets composed of either milk, concentrates and various forages as main ingredients and different slaughter ages, from 1 and 12 months, and carcass weights, from 5.5 to 30.4kg. Tests were conducted by 36 volunteer families in each of the six countries involved in the study. Families were asked to roast the joints using their own cooking criteria, evaluating (from "dislike extremely" to "like extremely") flavour, tenderness, juiciness and overall liking. Also the cook was asked to rate the odour during cooking. Country and lamb type and their interaction were statistically significant for all the variables analysed. Results suggest a link between the assessments of a given lamb type and the consumers' culinary background, showing clear associations between country and lamb type preferences. It was possible to separate, independently of the country, different groups of families with similar preferences. Five family groups, which included 88 families (40.74%), had a clear Mediterranean origin and preferred types of lamb fed either milk or mainly concentrate diets. Seven family groups, which included 93 families (43.06%) with a clear northern origin, preferred types reared on grass or with grass included in the diet. The rest of the groups (four) that included 35 families (16.20%) had no clear composition (northern or Mediterranean), and they had a wider taste preference. It can clearly be seen that there are two categories of consumers of lamb in the analysed European market: those who prefer "milk or concentrate taste" and those who prefer "grass taste".
[Clinical features of a Chinese pedigree with Waardenburg syndrome type 2].
Yang, Shu-zhi; Yuan, Hui-jun; Bai, Lin-na; Cao, Ju-yang; Xu, Ye; Shen, Wei-dong; Ji, Fei; Yang, Wei-yan
2005-10-12
To investigate detailed clinical features of a Chinese pedigree with Waardenburg syndrome type 2. Members of this pedigree were interviewed to identify personal or family medical histories of hearing loss, the use of aminoglycosides, and other clinical abnormalities by filling questionnaire. The audiological and other clinical evaluations of the proband and other members of this family were conducted, including pure-tone audiometry, immittance and auditory brain-stem response and ophthalmological, dermatologic, hair, temporal bone CT examinations. This family is categorized as Waardenburg syndrome type 2 according to its clinical features. It's an autosomal dominant disorder with incomplete penetrance. The clinical features varied greatly among family members and characterized by sensorineural hearing loss, heterochromia irides, freckle on the face and premature gray hair. Hearing loss can be unilateral or bilateral, congenital or late onset in this family. This Chinese family has some unique clinical features comparing with the international diagnostic criteria for Waardenburg syndrome. This study may provide some evidences to amend the diagnostic criteria for Waardenburg syndrome in Chinese population.
Parker, Gordon B; Romano, Mia; Graham, Rebecca K; Ricciardi, Tahlia
2018-05-01
We sought to quantify the prevalence and differential prevalence of a bipolar disorder among family members of patients with a bipolar I or II disorder. The sample comprised 1165 bipolar and 1041 unipolar patients, with the former then sub-typed as having either a bipolar I or II condition. Family history data was obtained via an online self-report tool. Prevalence of a family member having a bipolar disorder (of either sub-type) was distinctive (36.8%). Patients with a bipolar I disorder reported a slightly higher family history (41.2%) compared to patients with a bipolar II disorder (36.3%), and with both significantly higher than the rate of bipolar disorder in family members of unipolar depressed patients (18.5%). Findings support the view that bipolar disorder is heritable. The comparable rates in the two bipolar sub-types support the positioning of bipolar II disorder as a valid condition with strong genetic underpinnings.
ERIC Educational Resources Information Center
Stewart, Lisa M.
2013-01-01
This study compared work-family and family-work conflict for employed family caregivers with disability-related care responsibilities in contrast to employed family caregivers with typical care responsibilities. Using data from the 2002 National Study of the Changing Workforce, a population-based survey of the U.S. workforce, formal and informal…
Genetic heterogeneity of Usher syndrome type II: localisation to chromosome 5q.
Pieke-Dahl, S; Möller, C G; Kelley, P M; Astuto, L M; Cremers, C W; Gorin, M B; Kimberling, W J
2000-04-01
Usher syndrome is a group of autosomal recessive disorders that includes retinitis pigmentosa (RP) with hearing loss. Usher syndrome type II is defined as moderate to severe hearing loss with RP. The USH2A gene at 1q41 has been isolated and characterised. In 1993, a large Usher II family affected with a mild form of RP was found to be unlinked to 1q41 markers. Subsequent linkage studies of families in our Usher series identified several type II families unlinked to USH2A and USH3 on 3q25. After a second unlinked family with many affected members and a mild retinal phenotype was discovered, a genome search using these two large families showed another Usher II locus on 5q (two point lod = 3.1 at D5S484). To date, we have identified nine unrelated 5q linked families (maximum combined multipoint lod = 5.86) as well as three Usher II families that show no significant linkage to any known Usher loci. Haplotype analysis of 5q markers indicates that the new locus is flanked by D5S428 and D5S433. Review of ophthalmological data suggests that RP symptoms are milder in 5q linked families; the RP is often not diagnosed until patients near their third decade. Enamel hypoplasia and severe, very early onset RP were observed in two of the three unlinked families; dental anomalies have not been previously described as a feature of Usher type II.
Genetic counseling in Usher syndrome: linkage and mutational analysis of 10 Colombian families.
Tamayo, M L; Lopez, G; Gelvez, N; Medina, D; Kimberling, W J; Rodríguez, V; Tamayo, G E; Bernal, J E
2008-01-01
Usher Syndrome (US), an autosomal recessive disease, is characterized by retinitis pigmentosa (RP), vestibular dysfunction, and congenital sensorineural deafness. There are three recognized clinical types of the disorder. In order to improve genetic counseling for affected families, we conducted linkage analysis and DNA sequencing in 10 Colombian families with confirmed diagnosis of US (4 type I and 6 type II). Seventy-five percent of the US1 families showed linkage to locus USH1B, while the remaining 25% showed linkage to loci USH1B and USH1C. Among families showing linkage to USH1B we found two different mutations in the MYO7A gene: IVS42-26insTTGAG in exon 43 (heterozygous state) and R634X (CGA-TGA) in exon 16 (homozygous state). All six US2 families showed linkage to locus USH2A. Of them, 4 had c.2299delG mutation (1 homozygote state and 3 heterozygous); in the remaining 2 we did not identify any pathologic DNA variant. USH2A individuals with a 2299delG mutation presented a typical and homogeneous retinal phenotype with bilateral severe hearing loss, except for one individual with a heterozygous 2299delG mutation, whose hearing loss was asymmetric, but more profound than in the other cases. The study of these families adds to the genotype-phenotype characterization of the different types and subtypes of US and facilitates genetic counseling in these families. We would like to emphasize the need to perform DNA studies as a prerequisite for genetic counseling in affected families.
Healthy Lifestyles of University Students in China and Influential Factors
Xing, Xiao-Hui; Wu, Xian-Bo
2013-01-01
This study was conducted to analyze to what extent university students exhibit healthy lifestyles and which sociodemographic variables influence healthy lifestyles. 4809 university students randomly selected were measured by use of the Healthy Lifestyle Scale for University Students questionnaire. When controlling for the other variables, the total healthy lifestyles score was predicted by gender, grade, father's level of education, and type of institution; exercise behaviour was partially predicted by gender, grade, type of institution, and family monthly income; regular behaviour was modulated by gender, grade, type of institution, family monthly income, and father's educational level; nutrition behaviour was partially affected by type of institution, family monthly income, and father's educational level; health risk behaviour was modulated by gender, mother's level of education, and family monthly income; health responsibility was modulated by gender, grade, type of institution, and father's educational level; social support was modulated by gender, grade, and father's educational level; stress management was modulated by gender, grade, type of institution, and mother's education level; life appreciation was modulated by grade, type of institution, and mother's educational level. These influences should be taken into account in designing interventions for specific socio-demographic profiles that might be at higher risk for certain behaviours. PMID:23935418
Mutations Affecting G-Protein Subunit α11 in Hypercalcemia and Hypocalcemia
Babinsky, Valerie N.; Head, Rosie A.; Cranston, Treena; Rust, Nigel; Hobbs, Maurine R.; Heath, Hunter; Thakker, Rajesh V.
2013-01-01
BACKGROUND Familial hypocalciuric hypercalcemia is a genetically heterogeneous disorder with three variants: types 1, 2, and 3. Type 1 is due to loss-of-function mutations of the calcium-sensing receptor, a guanine nucleotide–binding protein (G-protein)–coupled receptor that signals through the G-protein subunit α11 (Gα11). Type 3 is associated with adaptor-related protein complex 2, sigma 1 subunit (AP2S1) mutations, which result in altered calcium-sensing receptor endocytosis. We hypothesized that type 2 is due to mutations effecting Gα11 loss of function, since Gα11 is involved in calcium-sensing receptor signaling, and its gene (GNA11) and the type 2 locus are colocalized on chromosome 19p13.3. We also postulated that mutations effecting Gα11 gain of function, like the mutations effecting calcium-sensing receptor gain of function that cause autosomal dominant hypocalcemia type 1, may lead to hypocalcemia. METHODS We performed GNA11 mutational analysis in a kindred with familial hypocalciuric hypercalcemia type 2 and in nine unrelated patients with familial hypocalciuric hypercalcemia who did not have mutations in the gene encoding the calcium-sensing receptor (CASR) or AP2S1. We also performed this analysis in eight unrelated patients with hypocalcemia who did not have CASR mutations. In addition, we studied the effects of GNA11 mutations on Gα11 protein structure and calcium-sensing receptor signaling in human embryonic kidney 293 (HEK293) cells. RESULTS The kindred with familial hypocalciuric hypercalcemia type 2 had an in-frame deletion of a conserved Gα11 isoleucine (Ile200del), and one of the nine unrelated patients with familial hypocalciuric hypercalcemia had a missense GNA11 mutation (Leu135Gln). Missense GNA11 mutations (Arg181Gln and Phe341Leu) were detected in two unrelated patients with hypocalcemia; they were therefore identified as having autosomal dominant hypocalcemia type 2. All four GNA11 mutations predicted disrupted protein structures, and assessment on the basis of in vitro expression showed that familial hypocalciuric hypercalcemia type 2–associated mutations decreased the sensitivity of cells expressing calcium-sensing receptors to changes in extracellular calcium concentrations, whereas autosomal dominant hypocalcemia type 2–associated mutations increased cell sensitivity. CONCLUSIONS Gα11 mutants with loss of function cause familial hypocalciuric hypercalcemia type 2, and Gα11 mutants with gain of function cause a clinical disorder designated as autosomal dominant hypocalcemia type 2. (Funded by the United Kingdom Medical Research Council and others.) PMID:23802516
Ethnic and Gender Differences in Family Social Support among Black Adolescents
Taylor, Robert Joseph; Chatters, Linda M.
2018-01-01
This study examines black adolescents’ reports of the most helpful types of social support that they receive from and provide to family members, and whether family support exchanges vary by ethnicity (African American vs. Black Caribbean) and gender. Data for this study are from the National Survey of American Life Adolescent Supplement (NSAL-A), a national, probability sample of African American and Black Caribbean youth (ages 13–17). Overall, youth reported financial support, followed by emotional assistance and practical support as the most helpful types of support that they received. Practical and emotional assistance characterized the most commonly reported types of support that they provided to family members. Black Caribbean adolescents were more likely than African American adolescents to report financial and practical assistance as the most helpful types of support that they received from family members; no ethnic differences were observed in the provision of support to relatives. There were no significant gender differences in the receipt of support, but adolescent girls reported greater involvement in providing emotional support and caregiving than adolescent boys. The results of this paper reveal that African American and Black Caribbean adolescents are involved in a complex pattern of reciprocal support exchanges with their extended family members. Study findings also reinforce the importance of research focused on racial/ethnic and gender differences in family support exchanges in order to develop a more nuanced understanding of family support behaviors within these groups. PMID:29498638
Community Violence Exposure and Positive Youth Development in Urban Youth
Deatrick, Janet A.; Kassam-Adams, Nancy; Richmond, Therese S.
2011-01-01
Youth in urban environments are exposed to community violence, yet some do well and continue on a positive developmental trajectory. This study investigated the relationships between lifetime community violence exposure (including total, hearing about, witnessing, and victimization), family functioning, and positive youth development (PYD) among 110 urban youth ages 10–16 years (54% female) using a paper and pen self-report survey. This cross-sectional study was part of an interdisciplinary community-based participatory research effort in West/Southwest Philadelphia. Almost 97% of the sample reported some type of community violence exposure. Controlling for presence of mother in the home and presence of father in the home, separate linear regression models for PYD by each type of community violence exposure indicated that gender and family functioning were significantly associated with PYD. None of the types of community violence exposure were significant in the models. Significant interactions between gender and presence of mother in the home and gender and family functioning helped better explain these relationships for some of the types of community violence exposure. Presence of mother was associated with higher PYD for girls, but not for boys. Boys with poor family functioning had lower PYD than girls with poor family functioning. This study helps to better delineate relationships between CVE and PYD by adding new knowledge to the literature on the role of family functioning. Points of intervention should focus on families, with attention to parental figures in the home and overall family functioning. PMID:21461763
de Herder, Wouter W.
2012-01-01
Familial GH-secreting tumors are seen in association with three separate hereditary clinical syndromes: multiple endocrine neoplasia type 1, Carney complex, and familial isolated pituitary adenomas. PMID:22584702
Efficacy of family mediation and the role of family violence: study protocol.
Cleak, Helen; Schofield, Margot; Bickerdike, Andrew
2014-01-21
Family law reforms in Australia require separated parents in dispute to attempt mandatory family dispute resolution (FDR) in community-based family services before court attendance. However, there are concerns about such services when clients present with a history of high conflict and family violence. This study protocol describes a longitudinal study of couples presenting for family mediation services. The study aims to describe the profile of family mediation clients, including type of family violence, and determine the impact of violence profiles on FDR processes and outcomes, such as the type and durability of shared parenting arrangements and clients' satisfaction with mediated agreements. A mixed method, naturalistic longitudinal design is used. The sampling frame is clients presenting at nine family mediation centres across metropolitan, outer suburban, and regional/rural sites in Victoria, Australia. Data are collected at pre-test, completion of mediation, and six months later. Self-administered surveys are administered at the three time points, and a telephone interview at the final post-test. The key study variable is family violence. Key outcome measures are changes in the type and level of acrimony and violent behaviours, the relationship between violence and mediated agreements, the durability of agreements over six months, and client satisfaction with mediation. Family violence is a major risk to the physical and mental health of women and children. This study will inform debates about the role of family violence and how to manage it in the family mediation context. It will also inform decision-making about mediation practices by better understanding how mediation impacts on parenting agreements, and the implications for children, especially in the context of family violence.
Efficacy of family mediation and the role of family violence: study protocol
2014-01-01
Background Family law reforms in Australia require separated parents in dispute to attempt mandatory family dispute resolution (FDR) in community-based family services before court attendance. However, there are concerns about such services when clients present with a history of high conflict and family violence. This study protocol describes a longitudinal study of couples presenting for family mediation services. The study aims to describe the profile of family mediation clients, including type of family violence, and determine the impact of violence profiles on FDR processes and outcomes, such as the type and durability of shared parenting arrangements and clients’ satisfaction with mediated agreements. Methods A mixed method, naturalistic longitudinal design is used. The sampling frame is clients presenting at nine family mediation centres across metropolitan, outer suburban, and regional/rural sites in Victoria, Australia. Data are collected at pre-test, completion of mediation, and six months later. Self-administered surveys are administered at the three time points, and a telephone interview at the final post-test. The key study variable is family violence. Key outcome measures are changes in the type and level of acrimony and violent behaviours, the relationship between violence and mediated agreements, the durability of agreements over six months, and client satisfaction with mediation. Discussion Family violence is a major risk to the physical and mental health of women and children. This study will inform debates about the role of family violence and how to manage it in the family mediation context. It will also inform decision-making about mediation practices by better understanding how mediation impacts on parenting agreements, and the implications for children, especially in the context of family violence. PMID:24443936
ERIC Educational Resources Information Center
Muse, Lori A.; Pichler, Shaun
2011-01-01
The work-family literature to date does not offer a clear picture in terms of the relative importance of different types of supports for balancing work and family demands. Grounded in conservation or resources theory, we develop an integrative model relating multiple forms of social support, both formal (i.e., work-life benefit use) and informal…
Kornides, M. L.; Nansel, T. R.; Quick, V.; Haynie, D. L.; Lipsky, L. M.; Laffel, L. M. B.; Mehta, S. N.
2014-01-01
Background While benefits of family mealtimes, such as improved dietary quality and increased family communication, have been well-documented in the general population, less is known about family meal habits that contribute to more frequent family meals in youth with type 1 diabetes. Methods This cross-sectional study surveyed 282 youth ages 8–18 years with type 1 diabetes and their parents on measures regarding diabetes-related and dietary behaviours. T-tests determined significant differences in youth's diet quality, adherence to diabetes management and glycaemic control between those with and without regular family meals (defined as ≥5 meals per week). Logistic regression analyses determined unadjusted and adjusted associations of age, socio-demographics, family meal habits, and family meal preparation characteristics with regular family meals. Results 57% of parents reported having regular family meals. Families with regular family meals had significantly better diet quality as measured by the Healthy Eating Index (P < 0.05) and the NRF9.3 (P < 0.01), and adherence to diabetes management (P < 0.001); the difference in glycaemic control approached statistical significance (P = 0.06). Priority placed on, pleasant atmosphere and greater structure around family meals were each associated with regular family meals (P < 0.05). Meals prepared at home were positively associated with regular family meals, while convenience and fast foods were negatively associated (P < 0.05). Families in which at least one parent worked part-time or stayed at home were significantly more likely to have regular family meals than families in which both parents worked full-time (P < 0.05). In the multivariate logistic regression model, greater parental priority given to family mealtimes (P < 0.001) and more home-prepared meals (P < 0.001) predicted occurrence of regular family meals; adjusting for parent work status and other family meal habits. Conclusions Strategies for promoting families meals should not only highlight the benefits of family meals, but also facilitate parents' skills for and barriers to home-prepared meals. PMID:23731337
Kornides, M L; Nansel, T R; Quick, V; Haynie, D L; Lipsky, L M; Laffel, L M B; Mehta, S N
2014-05-01
While benefits of family mealtimes, such as improved dietary quality and increased family communication, have been well-documented in the general population, less is known about family meal habits that contribute to more frequent family meals in youth with type 1 diabetes. This cross-sectional study surveyed 282 youth ages 8-18 years with type 1 diabetes and their parents on measures regarding diabetes-related and dietary behaviours. T-tests determined significant differences in youth's diet quality, adherence to diabetes management and glycaemic control between those with and without regular family meals (defined as ≥ 5 meals per week). Logistic regression analyses determined unadjusted and adjusted associations of age, socio-demographics, family meal habits, and family meal preparation characteristics with regular family meals. 57% of parents reported having regular family meals. Families with regular family meals had significantly better diet quality as measured by the Healthy Eating Index (P < 0.05) and the NRF9.3 (P < 0.01), and adherence to diabetes management (P < 0.001); the difference in glycaemic control approached statistical significance (P = 0.06). Priority placed on, pleasant atmosphere and greater structure around family meals were each associated with regular family meals (P < 0.05). Meals prepared at home were positively associated with regular family meals, while convenience and fast foods were negatively associated (P < 0.05). Families in which at least one parent worked part-time or stayed at home were significantly more likely to have regular family meals than families in which both parents worked full-time (P < 0.05). In the multivariate logistic regression model, greater parental priority given to family mealtimes (P < 0.001) and more home-prepared meals (P < 0.001) predicted occurrence of regular family meals; adjusting for parent work status and other family meal habits. Strategies for promoting families meals should not only highlight the benefits of family meals, but also facilitate parents' skills for and barriers to home-prepared meals. © 2013 John Wiley & Sons Ltd.
Nayak, B Shivananda; Sobrian, Arianne; Latiff, Khalif; Pope, Danielle; Rampersad, Akash; Lourenço, Kodi; Samuel, Nichole
2014-01-01
To assess the impact of risk factors such as age, gender, ethnicity, family history, body mass index (BMI), waist circumference and hypertension, on the development of type 2 diabetes mellitus in the Trinidadian population. A cross-sectional case control study comprised 146 non-diabetics and 147 type 2 diabetics ≥18 years of age, from North Central, South West and Eastern regions of Trinidad. Cross-tabulations revealed a significant difference between type 2-diabetes and age at p<0.01, and between type 2 diabetes and family history, ethnicity, waist circumference and hypertension at p<0.05. Logistic regression showed age to be the most influential risk factor. The systolic blood pressure specifically showed a significant difference at p<0.05, with the mean values for non-diabetics and type 2 diabetics being, 130.62 (±2.124) and 141.35 (±2.312), respectively. No significant difference was observed between type 2 diabetes and gender and BMI. Age was the most significant risk factor of type 2 diabetes. Therefore it can be concluded that family history, ethnicity, waist circumference and hypertension are more significant risk factors of this disease than BMI and gender in the Trinidadian population. Copyright © 2014 Diabetes India. Published by Elsevier Ltd. All rights reserved.
DOE Office of Scientific and Technical Information (OSTI.GOV)
Asamoah, A.; North, K.; Wagstaff, J.
We report a family with a paracentric inversion of the long arm of chromosome 17 [inv(17)(q11.2q25.1)] and neurofibromatosis type one (NF1). The family was ascertained because of NF1 and multiple miscarriages. Fluorescence in situ hybridization using cosmid probes from opposite ends of the NF1 gene confirmed that the inversion gel electrophoresis we have found that the inversion separates cDNA probes FB5D and AE25, which are normally adjacent to one published report of a gross chromosomal rearrangement responsible for NF1. The features in this family are typical for NF1, and are not unusually severe. 26 refs., 5 figs.
Family Supports in the USA: Current Trends in Policy and Practice.
ERIC Educational Resources Information Center
Traustadottir, Rannveig
Family support services are systematic efforts to support natural, adoptive, or foster families who have a family member with a disability. Programs vary in the types of services offered, goals, and number of families served. The most promising approaches to family support provide services that are flexible and individualized, build on informal…
ERIC Educational Resources Information Center
Scabini, Eugenia; Lanz, Margherita; Marta, Elena
1999-01-01
Derived a typology of family relationships for 692 Italian families with at least 1 late adolescent child and studied differences between the 2 extreme types (out of 8 identified) in terms of family satisfaction and adequate functioning. Results show a better communication process in the more satisfied families. (SLD)
Suicidal Adolescents: Family Dynamics and the Effects of Lethality and Hopelessness.
ERIC Educational Resources Information Center
Mitchell, Mary G.; Rosenthal, David M.
1992-01-01
A study of family dynamics and it relationship to lethality and hopelessness for 34 families of suicidal adolescents and 15 families of nonsuicidal symptomatic adolescents demonstrates similarities of both types of families in terms of overprotection and enmeshment. Rigidity and conflict avoidance were more evident in suicidal families. (SLD)
Familial Influences on Dating Violence Victimization Among Latino Youth.
Reyes, H Luz McNaughton; Foshee, Vangie A; Klevens, Joanne; Tharp, Andra Teten; Chapman, Mimi V; Chen, May S; Ennett, Susan T
2016-01-01
Despite theoretical and empirical evidence suggesting that the family environment plays a central role in Latino youth development, relatively little is known about how family processes influence dating violence victimization among Latino adolescents. To address this gap in the literature, we used data from 210 Latino parents and their 13- to 15-year-old adolescents to examine associations between several different family processes, including both parenting practices (parent monitoring, parent-adolescent communication) and aspects of the family relational climate (family cohesion, family conflict, acculturation conflict) and psychological, physical, and sexual dating violence victimization. Consistent with expectations, lower levels of family cohesion and higher levels of family and acculturation conflict were associated with risk for dating violence victimization, although associations varied depending on victimization type. In contrast, neither parental monitoring nor parent-adolescent communication was significantly associated with any type of dating violence victimization. In addition, we found that parent, but not teen, Anglo-American acculturation was associated with higher dating violence victimization risk. Findings suggest that family-based dating abuse prevention programs for Latino youth should seek to increase family cohesion and decrease family conflict, including acculturation-based conflict.
Hrle, Ajla; Maier, Lisa-Katharina; Sharma, Kundan; Ebert, Judith; Basquin, Claire; Urlaub, Henning; Marchfelder, Anita; Conti, Elena
2014-01-01
Upon pathogen invasion, bacteria and archaea activate an RNA-interference-like mechanism termed CRISPR (clustered regularly interspaced short palindromic repeats). A large family of Cas (CRISPR-associated) proteins mediates the different stages of this sophisticated immune response. Bioinformatic studies have classified the Cas proteins into families, according to their sequences and respective functions. These range from the insertion of the foreign genetic elements into the host genome to the activation of the interference machinery as well as target degradation upon attack. Cas7 family proteins are central to the type I and type III interference machineries as they constitute the backbone of the large interference complexes. Here we report the crystal structure of Thermofilum pendens Csc2, a Cas7 family protein of type I-D. We found that Csc2 forms a core RRM-like domain, flanked by three peripheral insertion domains: a lid domain, a Zinc-binding domain and a helical domain. Comparison with other Cas7 family proteins reveals a set of similar structural features both in the core and in the peripheral domains, despite the absence of significant sequence similarity. T. pendens Csc2 binds single-stranded RNA in vitro in a sequence-independent manner. Using a crosslinking - mass-spectrometry approach, we mapped the RNA-binding surface to a positively charged surface patch on T. pendens Csc2. Thus our analysis of the key structural and functional features of T. pendens Csc2 highlights recurring themes and evolutionary relationships in type I and type III Cas proteins.
Antiviral activity of bovine type III interferon against foot-and-mouth disease virus
USDA-ARS?s Scientific Manuscript database
Interferons (IFN) are the first line of defense against viral infections. Recently a new family of IFNs, type III, has been identified in humans, mice, swine and chickens. Here we report the identification and characterization of a member of the bovine type III IFN family, boIFN-lambda3, also known...
African American Extended Family and Church-Based Social Network Typologies.
Nguyen, Ann W; Chatters, Linda M; Taylor, Robert Joseph
2016-12-01
We examined social network typologies among African American adults and their sociodemographic correlates. Network types were derived from indicators of the family and church networks. Latent class analysis was based on a nationally representative sample of African Americans from the National Survey of American Life. Results indicated four distinct network types: ambivalent, optimal, family centered, and strained. These four types were distinguished by (a) degree of social integration, (b) network composition, and (c) level of negative interactions. In a departure from previous work, a network type composed solely of nonkin was not identified, which may reflect racial differences in social network typologies. Further, the analysis indicated that network types varied by sociodemographic characteristics. Social network typologies have several promising practice implications, as they can inform the development of prevention and intervention programs.
Holmberg, M; Johansson, J; Forsgren, L; Heijbel, J; Sandgren, O; Holmgren, G
1995-08-01
We present linkage analysis on a large Swedish five-generation family of 15 affected individuals with autosomal dominant cerebellar ataxia (ADCA) associated with retinal degeneration and anticipation. Common clinical signs in this family include ataxia, dysarthria and severely impaired vision with the phenotype ADCA type II. Different subtypes of ADCA have proven difficult to classify clinically due to extensive phenotypic variability within and between families. Genetic analysis of a number of ADCA type I families shows that heterogeneity exists also genetically. During the last few years several types of ADCA type I have been localized and to date six genetically distinct forms have been identified including SCA1 (6p), SCA2 (12q), SCA3 and Machado-Joseph disease (MJD) (14q), SCA4 (16q), and finally SCA5 (11). We performed a genome-wide search of the Swedish ADCA type II family using a total of 270 microsatellite markers. Positive lod scores were obtained with a number of microsatellite markers located on chromosome 3p12-p21.1. Three markers gave lod scores over 3 with a maximum lod score of 4.53 achieved with the marker D3S1600. The ADCA type II gene could be restricted to a region of 32 cM by the markers D3S1547 and D3S1274.
Typology of perceived family functioning in an American sample of patients with advanced cancer.
Schuler, Tammy A; Zaider, Talia I; Li, Yuelin; Hichenberg, Shira; Masterson, Melissa; Kissane, David W
2014-08-01
Poor family functioning affects psychosocial adjustment and the occurrence of morbidity following bereavement in the context of a family's coping with advanced cancer. Family functioning typologies assist with targeted family-centered assessment and intervention to offset these complications in the palliative care setting. Our objective was to identify the number and nature of potential types in an American palliative care patient sample. Data from patients with advanced cancer (N = 1809) screened for eligibility for a larger randomized clinical trial were used. Cluster analyses determined whether patients could be classified into clinically meaningful and coherent groups, based on similarities in their perceptions of family functioning across the cohesiveness, expressiveness, and conflict resolution subscales of the Family Relations Index. Patients' reports of perceived family functioning yielded a model containing five meaningful family types. Cohesiveness, expressiveness, and conflict resolution appear to be useful dimensions by which to classify patient perceptions of family functioning. "At risk" American families may include those we have called hostile, low-communicating, and less-involved. Such families may benefit from adjuvant family-centered psychosocial services, such as family therapy. Copyright © 2014 American Academy of Hospice and Palliative Medicine. Published by Elsevier Inc. All rights reserved.
Soler, Jorge H; Caldwell, Cleopatra H; Córdova, David; Harper, Gary; Bauermeister, José A
2018-06-01
Gay and bisexual men may form chosen families in addition to or in place of families of origin. However, the characteristics of these diverse families remain largely unexamined in the quantitative literature. The purpose of this study was to develop a family typology based on responses from a racially and ethnically diverse sample of young adult gay and bisexual men (YGBM) recruited from the Detroit Metropolitan Area (N=350; 18-29 years old). To explore the role of family, we then examined family social support and social undermining in relation to YGBM psychological distress within different family types. A series of multivariate regressions were used to examine associations between family social support and social undermining with depression and anxiety outcomes. The majority (88%) of YGBM included family of origin in their definitions of family and 63% indicated having chosen families. Associations between family social processes and psychological outcomes varied by type of family, suggesting that family composition shapes how perceptions of support and undermining relate to experiencing symptoms of depression and anxiety. Chosen families play a prominent role in the lives of YGBM and should not be overlooked in family research. Findings also highlight the importance of examining co-occurring family social support and social stress processes to further address psychological distress symptoms among YGBM.
Structural Biology and Evolution of the TGF-β Family
Hinck, Andrew P.; Mueller, Thomas D.; Springer, Timothy A.
2017-01-01
We review the evolution and structure of members of the transforming growth factor β (TGF-β) family, antagonistic or agonistic modulators, and receptors that regulate TGF-β signaling in extracellular environments. The growth factor (GF) domain common to all family members and many of their antagonists evolved from a common cystine knot growth factor (CKGF) domain. The CKGF superfamily comprises six distinct families in primitive metazoans, including the TGF-β and Dan families. Compared with Wnt/Frizzled and Notch/Delta families that also specify body axes, cell fate, tissues, and other families that contain CKGF domains that evolved in parallel, the TGF-β family was the most fruitful in evolution. Complexes between the prodomains and GFs of the TGF-β family suggest a new paradigm for regulating GF release by conversion from closed- to open-arm procomplex conformations. Ternary complexes of the final step in extracellular signaling show how TGF-β GF dimers bind type I and type II receptors on the cell surface, and enable understanding of much of the specificity and promiscuity in extracellular signaling. However, structures suggest that when GFs bind repulsive guidance molecule (RGM) family coreceptors, type I receptors do not bind until reaching an intracellular, membrane-enveloped compartment, blurring the line between extra- and intracellular signaling. Modulator protein structures show how structurally diverse antagonists including follistatins, noggin, and members of the chordin family bind GFs to regulate signaling; complexes with the Dan family remain elusive. Much work is needed to understand how these molecular components assemble to form signaling hubs in extracellular environments in vivo. PMID:27638177
Impact of managed MediCal on California family practice programs.
Zweifler, J A
2001-05-01
An important source of patients for California's family practice program is MediCal. During the past 5 years, MediCal has established a variety of capitated managed care plans. To assess the impact of California's managed MediCal program on the state's 38 family practice training programs. A cross-sectional, retrospective descriptive survey. A 3-page, 11-question survey was developed by family practice residency directors and staff from the California Academy of Family Physicians, San Francisco. The 38 family practice programs in existence in California in September 1997 were stratified by type of managed MediCal in their county and by type of sponsoring institution--university, county, community based, staff-model health maintenance organization, or managed care system. Of the 38 family practice programs, 27 responded; 19 of 27 programs participated in managed MediCal. The total number of family health center patients, and the percentage of MediCal patients (48%-60%) at family practice programs was similar when stratified by programs with and without managed MediCal and by type of sponsorship. Most programs reported that they were able to compete effectively, although most also reported increased administrative, nursing, and front office costs. Managed MediCal patients were directly assigned to residents in only 3 of 19 programs. The introduction of managed MediCal has not adversely affected the number of patients cared for in California's family practice programs. Continued vigilance regarding California family practice programs' involvement in managed MediCal, including collection of accurate data on the number of MediCal patients and the financial and educational implications for California's family practice programs, is warranted.
Audiometric Characteristics of a Dutch DFNA10 Family With Mid-Frequency Hearing Impairment.
van Beelen, Eline; Oonk, Anne M M; Leijendeckers, Joop M; Hoefsloot, Elisabeth H; Pennings, Ronald J E; Feenstra, Ilse; Dieker, Hendrik-Jan; Huygen, Patrick L M; Snik, Ad F M; Kremer, Hannie; Kunst, Henricus P M
2016-01-01
Mutations in EYA4 can cause nonsyndromic autosomal dominant sensorineural hearing impairment (DFNA10) or a syndromic variant with hearing impairment and dilated cardiomyopathy. A mutation in EYA4 was found in a Dutch family, causing DFNA10. This study is focused on characterizing the hearing impairment in this family. Whole exome sequencing was performed in the proband. In addition, peripheral blood samples were collected from 23 family members, and segregation analyses were performed. All participants underwent otorhinolaryngological examinations and pure-tone audiometry, and 12 participants underwent speech audiometry. In addition, an extended set of audiometric measurements was performed in five family members to evaluate the functional status of the cochlea. Vestibular testing was performed in three family members. Two individuals underwent echocardiography to evaluate the nonsyndromic phenotype. The authors present a Dutch family with a truncating mutation in EYA4 causing a mid-frequency hearing impairment. This mutation (c.464del) leads to a frameshift and a premature stop codon (p.Pro155fsX). This mutation is the most N-terminal mutation in EYA4 found to date. In addition, a missense mutation, predicted to be deleterious, was found in EYA4 in two family members. Echocardiography in two family members revealed no signs of dilated cardiomyopathy. Results of caloric and velocity step tests in three family members showed no abnormalities. Hearing impairment was found to be symmetric and progressive, beginning as a mid-frequency hearing impairment in childhood and developing into a high-frequency, moderate hearing impairment later in life. Furthermore, an extended set of audiometric measurements was performed in five family members. The results were comparable to those obtained in patients with other sensory types of hearing impairments, such as patients with Usher syndrome type IIA and presbyacusis, and not to those obtained in patients with (cochlear) conductive types of hearing impairment, such as DFNA8/12 and DFNA13. The mid-frequency hearing impairment in the present family was found to be symmetric and progressive, with a predominantly childhood onset. The results of psychophysical measurements revealed similarities to other conditions involving a sensory type of hearing impairment, such as Usher syndrome type IIA and presbyacusis. The study results suggest that EYA4 is expressed in the sensory cells of the cochlea. This phenotypic description will facilitate counseling for hearing impairment in DFNA10 patients.
Satisfaction of active duty soldiers with family dental care.
Chisick, M C
1997-02-01
In the fall of 1992, a random, worldwide sample of 6,442 married and single parent soldiers completed a self-administered survey on satisfaction with 22 attributes of family dental care. Simple descriptive statistics for each attribute were derived, as was a composite overall satisfaction score using factor analysis. Composite scores were regressed on demographics, annual dental utilization, and access barriers to identify those factors having an impact on a soldier's overall satisfaction with family dental care. Separate regression models were constructed for single parents, childless couples, and couples with children. Results show below-average satisfaction with nearly all attributes of family dental care, with access attributes having the lowest average satisfaction scores. Factors influencing satisfaction with family dental care varied by family type with one exception: dependent dental utilization within the past year contributed positively to satisfaction across all family types.
Code of Federal Regulations, 2012 CFR
2012-07-01
... 41 Public Contracts and Property Management 4 2012-07-01 2012-07-01 false If my immediate family... claim the same relocation expenses? 302-3.201 Section 302-3.201 Public Contracts and Property Management... SPECIFIC TYPE Types of Transfers Relocation of Two Or More Employed Immediate Family Members § 302-3.201 If...
Code of Federal Regulations, 2011 CFR
2011-07-01
... 41 Public Contracts and Property Management 4 2011-07-01 2011-07-01 false If my immediate family... claim the same relocation expenses? 302-3.201 Section 302-3.201 Public Contracts and Property Management... SPECIFIC TYPE Types of Transfers Relocation of Two Or More Employed Immediate Family Members § 302-3.201 If...
Code of Federal Regulations, 2013 CFR
2013-07-01
... 41 Public Contracts and Property Management 4 2013-07-01 2012-07-01 true If my immediate family... claim the same relocation expenses? 302-3.201 Section 302-3.201 Public Contracts and Property Management... SPECIFIC TYPE Types of Transfers Relocation of Two Or More Employed Immediate Family Members § 302-3.201 If...
Code of Federal Regulations, 2014 CFR
2014-07-01
... 41 Public Contracts and Property Management 4 2014-07-01 2014-07-01 false If my immediate family... claim the same relocation expenses? 302-3.201 Section 302-3.201 Public Contracts and Property Management... SPECIFIC TYPE Types of Transfers Relocation of Two Or More Employed Immediate Family Members § 302-3.201 If...
Code of Federal Regulations, 2010 CFR
2010-07-01
... 41 Public Contracts and Property Management 4 2010-07-01 2010-07-01 false If my immediate family... claim the same relocation expenses? 302-3.201 Section 302-3.201 Public Contracts and Property Management... SPECIFIC TYPE Types of Transfers Relocation of Two Or More Employed Immediate Family Members § 302-3.201 If...
[THE NEW FAMILY TYPES IN THE HEALTH SYSTEM].
Grau Rubio, Claudia; Fernández Hawrylak, María
2015-11-01
Changes in the Spanish families are critical in the planning of health services, in the evolution oftheirdemands, and in their relationships with healthcare staff We describe the characteristics of the new family structures (single-parent families, LGBT families, older families, multiple birth families, stepfamilies, adoptive families and families that resort to assisted reproductive techniques), what are their concerns, their needs and their requirements, and what are the implications for the health system.
Peeling skin syndrome in eight cases of four different families from India and Bangladesh.
Sarma, Nilendu; Boler, Anup Kumar; Bhanja, Dulal Chandra
2012-01-01
Peeling skin syndrome (PSS) is a rare recessively inherited ichthyosiform genodermatoses characterized by superficial skin peeling. This has 2 subtypes, acral (APSS; OMIM 609796) and generalized form (OMIM 270300). The later has been subdivided into type A (non-inflammatory) and type B (inflammatory). Eight cases of peeling skin syndrome in 4 families were recorded over a period of 5 years. They were diagnosed clinically and confirmed histopathologically. Disease onset ranged from birth to childhood age (mean 5.25 ± 4.528 years) and age at presentation ranged from 7-35 years (mean 23.25 ± 10.471 years). Males outnumbered females (M:F - 5:3). All had non-inflammatory generalized disease of type-A PSS variety, except one who had type-B PSS. Two Muslim families (1 st and 2 nd family, total 5 patients) came from nearby country Bangladesh, and the 2 Hindu families were Indian. Higher severity over acral areas in generalized type, possible autosomal dominant pattern of inheritance and improvement with age as found in this series were new manifestations and possibly unreported previously. The disease was found to be poorly responsive to oral retinoids. Prevalence of the disease may be higher than expected. Importance of mutational analysis was also highlighted.
Guerra, Yasel; Valiente, Pedro A; Pons, Tirso; Berry, Colin; Rudiño-Piñera, Enrique
2016-08-01
Bi-functional inhibitors from the Kunitz-type soybean trypsin inhibitor (STI) family are glycosylated proteins able to inhibit serine and aspartic proteases. Here we report six crystal structures of the wild-type and a non-glycosylated mutant of the bifunctional inhibitor E3Ad obtained at different pH values and space groups. The crystal structures show that E3Ad adopts the typical β-trefoil fold of the STI family exhibiting some conformational changes due to pH variations and crystal packing. Despite the high sequence identity with a recently reported potato cathepsin D inhibitor (PDI), three-dimensional structures obtained in this work show a significant conformational change in the protease-binding loop proposed for aspartic protease inhibition. The E3Ad binding loop for serine protease inhibition is also proposed, based on structural similarity with a novel non-canonical conformation described for the double-headed inhibitor API-A from the Kunitz-type STI family. In addition, structural and sequence analyses suggest that bifunctional inhibitors of serine and aspartic proteases from the Kunitz-type STI family are more similar to double-headed inhibitor API-A than other inhibitors with a canonical protease-binding loop. Copyright © 2016. Published by Elsevier Inc.
Hofmann-Thiel, Sabine; Molodtsov, Nikolay; Antonenka, Uladzimir; Hoffmann, Harald
2016-12-01
The Abbott RealTime MTB (RT MTB) assay is a new automated nucleic acid amplification test for the detection of Mycobacterium tuberculosis complex (MTBC) in clinical specimens. In combination with the RealTime MTB INH/RIF (RT MTB INH/RIF) resistance assay, which can be applied to RT MTB-positive specimens as an add-on assay, the tests also indicate the genetic markers of resistance to isoniazid (INH) and rifampin (RIF). We aimed to evaluate the diagnostic sensitivity and specificity of RT MTB using different types of respiratory and extrapulmonary specimens and to compare performance characteristics directly with those of the FluoroType MTB assay. The resistance results obtained by RT MTB INH/RIF were compared to those from the GenoType MTBDRplus and from phenotypic drug susceptibility testing. A total of 715 clinical specimens were analyzed. Compared to culture, the overall sensitivity of RT MTB was 92.1%; the sensitivity rates for smear-positive and smear-negative samples were 100% and 76.2%, respectively. The sensitivities of smear-negative specimens were almost identical for respiratory (76.3%) and extrapulmonary (76%) specimens. Specificity rates were 100% and 95.8% for culture-negative specimens and those that grew nontuberculous mycobacteria, respectively. RT MTB INH/RIF was applied to 233 RT MTB-positive samples and identified resistance markers in 7.7% of samples. Agreement with phenotypic and genotypic drug susceptibility testing was 99.5%. In conclusion, RT MTB and RT MTB INH/RIF allow for the rapid and accurate diagnosis of tuberculosis (TB) in different types of specimens and reliably indicate resistance markers. The strengths of this system are the comparably high sensitivity with paucibacillary specimens, its ability to detect INH and RIF resistance, and its high-throughput capacities. Copyright © 2016, American Society for Microbiology. All Rights Reserved.
Tsiouli, Elina; Alexopoulos, Evangelos C; Stefanaki, Charikleia; Darviri, Christina; Chrousos, George P
2013-02-01
To investigate the way that family stress influences glycemic control among patients with diabetes who are younger than 18 years of age. PubMed and Scopus were searched for relevant studies published since 1990 using the following key words: diabetes type 1, glycemic control, family stress, family conflict, and family function. In total, 1478 papers were identified in the initial search. The final review included 6 cohort studies, 3 cross-sectional studies, and 1 qualitative review in which family stress was assessed using specific diabetes-related conflict measurement instruments, and glycemic control was evaluated by glycosylated hemoglobin measurement. In most studies family stress was negatively correlated with patients' glycemic control. Family function was strongly related to patients' glycemic control, while family conflict was adversely associated with glycemic control. Families of low socioeconomic status, those of adolescents with diabetes, and those of single parents were more prone to diabetes-related stress and thus more susceptible to worse glycemic control. Therapeutic psychological interventions and educational programs can help alleviate family diabetes-related stress and will likely improve glycemic control.
Mothers' Work Hours and Marital Quality: Variations by Family Structure and Family Size.
ERIC Educational Resources Information Center
Rogers, Stacy J.
1996-01-01
Investigated the association between married mothers' (n=1,502) employment and their reports of marital conflict and marital happiness in continuously married families with children and in mother-stepfather families. Found significant difference between types of families. Discusses findings and calls for additional research. (RB)
New Realities of the American Family.
ERIC Educational Resources Information Center
Ahlburg, Dennis A.; De Vita, Carol J.
1992-01-01
This bulletin explores the social, economic, and demographic trends that have contributed to the changing structure of the American family. Sections of the document discuss: (1) definitions of household and family; (2) types of families, including married couples with and without children and single-parent families; (3) living arrangements of…
Active Families in the Great Outdoors: A Program to Promote Family Outdoor Physical Activity
ERIC Educational Resources Information Center
Flynn, Jennifer I.; Bassett, David R.; Fouts, Hillary N.; Thompson, Dixie L.; Coe, Dawn P.
2017-01-01
This study evaluated a 4-week program to increase the time families spent engaging in outdoor activity. Parents were provided strategies to increase family outdoor activity and locations to be active. Sixteen families completed the program. Duration and number of family outdoor activity bouts per week, type of activities, locations, and family…
Gender-Typed Behavior Over Time in Children with Lesbian, Gay, and Heterosexual Parents
Goldberg, Abbie E.; Garcia, Randi L.
2016-01-01
The current longitudinal study examined patterns and predictors of parent-reported gender-typed play behavior in adopted boys and girls in lesbian, gay, and heterosexual two-parent families, across early childhood (Mage = 2.82 to 6.06 years). Specifically, using a sample of 181 couples (56 lesbian couples, 48 gay male couples, and 77 heterosexual couples), we examined parent reports of children’s gender-typed play behavior on the Pre-School Activities Inventory (PSAI; Golombok & Rust, 1993) at three time points (mean age = 2.82 years at T1, 3.93 years at T2, and 6.06 years at T3). Family structure variables (i.e., parents’ gender and sexual orientation; children’s gender and sibling status) were included as predictors. At T1, according to parent reports, children in lesbian-parent families had less gender-differentiated behavior (boys were less masculine, girls were less feminine) than children in heterosexual- and gay-parent families, whereas the degree of gender differentiation did not differ between heterosexual- versus gay-parent families. Findings from a Common Fate Growth Model (Ledermann & Macho, 2014) revealed that, regardless of family type, the parent-reported gender-typed behavior of boys, but not girls, significantly changed over time (i.e., boys’ behavior became more masculine). Our findings have implications for researchers who study gender development in children and adolescents, particularly those who are being raised by two mothers or two fathers. PMID:27416364
Gender-typed behavior over time in children with lesbian, gay, and heterosexual parents.
Goldberg, Abbie E; Garcia, Randi L
2016-10-01
The current longitudinal study examined patterns and predictors of parent-reported gender-typed play behavior in adopted boys and girls in lesbian, gay, and heterosexual 2-parent families, across early childhood (Mage = 2.82 to 6.06 years). Specifically, using a sample of 181 couples (56 lesbian couples, 48 gay male couples, and 77 heterosexual couples), we examined parent reports of children's gender-typed play behavior on the Pre-School Activities Inventory (PSAI; Golombok & Rust, 1993) at 3 time points (mean age = 2.82 years at T1, 3.93 years at T2, and 6.06 years at T3). Family structure variables (i.e., parents' gender and sexual orientation; children's gender and sibling status) were included as predictors. At T1, according to parent reports, children in lesbian-parent families had less gender-differentiated behavior (boys were less masculine, girls were less feminine) than children in heterosexual- and gay-parent families, whereas the degree of gender differentiation did not differ between heterosexual- versus gay-parent families. Findings from a Common Fate Growth Model (Ledermann & Macho, 2014) revealed that, regardless of family type, the parent-reported gender-typed behavior of boys, but not girls, significantly changed over time (i.e., boys' behavior became more masculine). Our findings have implications for researchers who study gender development in children and adolescents, particularly those who are being raised by 2 mothers or 2 fathers. (PsycINFO Database Record (c) 2016 APA, all rights reserved).
Lalwani, A K; Attaie, A; Randolph, F T; Deshmukh, D; Wang, C; Mhatre, A; Wilcox, E
1998-12-04
Waardenburg syndrome (WS) is an autosomal-dominant neural crest cell disorder phenotypically characterized by hearing impairment and disturbance of pigmentation. A presence of dystopia canthorum is indicative of WS type 1, caused by loss of function mutation in the PAX3 gene. In contrast, type 2 WS (WS2) is characterized by normally placed medial canthi and is genetically heterogeneous; mutations in MITF (microphthalmia associated transcription factor) associated with WS2 have been identified in some but not all affected families. Here, we report on a three-generation Indian family with a point mutation in the MITF gene causing WS2. This mutation, initially reported in a Northern European family, creates a stop codon in exon 7 and is predicted to result in a truncated protein lacking the HLH-Zip or Zip structure necessary for normal interaction with its target DNA motif. Comparison of the phenotype between the two families demonstrates a significant difference in pigmentary disturbance of the eye. This family, with the first documented case of two unrelated WS2 families harboring identical mutations, provides additional evidence for the importance of genetic background on the clinical phenotype.
Rodriguez, Aubrey J.; Margolin, Gayla
2015-01-01
The temporary absence of a parent (e.g., due to incarceration, migration, or military deployment) is experienced by many youth and can have profound effects. Available research within these disparate literatures primarily has catalogued contextual and individual variables that influence youth adaptation, which are integrated and summarized here. In addition, we present a systematic review of proximal family process mechanisms by which youth and their family members adapt to periods of temporary parent absence. This systematic review across the different types of parent absence produced four themes: communication among family members, parenting characteristics during absence, negotiation of decision-making power and authority, and shifts in family roles. By juxtaposing the three types of temporary parent absence, we aim to bridge the separate research silos of parent absence due to incarceration, deployment, and migration, and to bring wide-ranging characteristics and processes of temporary parent-absent families into sharper focus. The review highlights possibilities for fuller integration of these literatures, and emphasizes the clinical value of considering these types of experiences from a family and relational perspective, rather than an individual coping perspective. PMID:25304163
YopJ Family Effectors Promote Bacterial Infection through a Unique Acetyltransferase Activity
2016-01-01
SUMMARY Gram-negative bacterial pathogens rely on the type III secretion system to inject virulence proteins into host cells. These type III secreted “effector” proteins directly manipulate cellular processes to cause disease. Although the effector repertoires in different bacterial species are highly variable, the Yersinia outer protein J (YopJ) effector family is unique in that its members are produced by diverse animal and plant pathogens as well as a nonpathogenic microsymbiont. All YopJ family effectors share a conserved catalytic triad that is identical to that of the C55 family of cysteine proteases. However, an accumulating body of evidence demonstrates that many YopJ effectors modify their target proteins in hosts by acetylating specific serine, threonine, and/or lysine residues. This unique acetyltransferase activity allows the YopJ family effectors to affect the function and/or stability of their targets, thereby dampening innate immunity. Here, we summarize the current understanding of this prevalent and evolutionarily conserved type III effector family by describing their enzymatic activities and virulence functions in animals and plants. In particular, the molecular mechanisms by which representative YopJ family effectors subvert host immunity through posttranslational modification of their target proteins are discussed. PMID:27784797
Escher, Fabian J; Seiffge-Krenke, Inge
2018-01-01
Impact of Different Types of Fathers on Family Climate in Young Adulthood: A Multi-perspective Longitudinal Study on 14 to 27 Year Olds and their Fathers In a 13 year longitudinal study, the influence of three types of fathers on the family climate was analyzed. In a sample of 213 subjects, their 169 fathers and their 210 mothers, the family environment ( Family Environment Scales) was examined when the subjects were young adults (M = 26.89, SD = 1.32). The results of the study point to significant changes in family climate in those young adults who described their father as increasingly negative (N = 28) or distant (N = 11) when in adolescence. These two groups showed a more negative family environment and greater differences between the perspectives of fathers and their young adult children than the group of young adults who described their father as normative (N = 174) when in adolescence. The highest discrepancies were described by young adults with a negative relationship with their father in adolescence. The findings show a long lasting importance of father-child interactions in adolescence.
[Analysis of TGFBI gene mutation in a Chinese family affected with Reis-Bucklers corneal dystrophy].
Guan, Tao; Zhang, Lingjie; Xu, Dejian; Wu, Haijian; Zheng, Libin
2017-10-10
To analyze the clinical features and TGFBI gene mutation in a Chinese family affected with Reis-Bucklers corneal dystrophy. Genomic DNA was extracted from 53 members including 9 patients from the family. The 17 exons and splice region of introns of the TGFBI gene were amplified by PCR and directly sequenced. All family members were subjected to ophthalmologic examination. A heterozygous mutation (R124L) was found in exon 4 of the TGFBI gene among all patients from the family. The same mutation was not found among unaffected family members. The inheritance pattern of the family was identified as autosomal dominant, and the Reis-Bucklers corneal dystrophy in the family was diagnosed as the geographic type. The R124L mutation of the TGFBI gene probably underlies the pathogenesis of Reis-Bucklers corneal dystrophy in this Chinese family. Molecular genetic approach is useful for the proper diagnosis of this type of corneal dystrophy.
Amstad, Fabienne T; Meier, Laurenz L; Fasel, Ursula; Elfering, Achim; Semmer, Norbert K
2011-04-01
A literature review of studies analyzing work-family conflict and its consequences was conducted, and 427 effect sizes were analyzed meta-analytically. Work-family conflict was analyzed bidirectionally in terms of work interference with family (WIF) and family interference with work (FIW). We assessed 3 categories of potential outcomes: work-related outcomes, family-related outcomes, and domain-unspecific outcomes. Results show that WIF and FIW are consistently related to all 3 types of outcomes. Both types of interrole conflict showed stronger relationships to same-domain outcomes than to cross-domain outcomes. Thus, WIF was more strongly associated with work-related than with family-related outcomes, and FIW was more strongly associated with family-related than with work-related outcomes. In moderator analyses, parenthood could not explain variability in effect sizes. However, time spent at work did moderate the relationships between WIF and family-related outcomes, as well as FIW and domain-unspecific outcomes.
USDA-ARS?s Scientific Manuscript database
Supportive parent involvement for adolescents' type 1 diabetes (T1D) self-management promotes optimal diabetes outcomes. However, family conflict is common and can interfere with collaborative family teamwork. Few interventions have used explicitly strengths-based approaches to help reinforce desire...
Characteristics of familial aggregation in early-onset Alzheimer`s disease: Evidence of subgroups
DOE Office of Scientific and Technical Information (OSTI.GOV)
Campion, D.; Martinez, M.; Babron, M.C.
1995-06-19
Characteristics of familial aggregation of Alzheimer`s Disease were studied in 92 families ascertained through a clinically diagnosed proband with an onset below age 60 years. In each family data were systematically collected on the sibships of the proband, of his father, and of his mother. A total of 926 relatives were included and 81% of the living relatives (i.e., 251 individuals) were directly examined. The estimated cumulative risk among first degree relatives was equal to 35% by age 89 years (95% confidence interval 22 to 47%). This result does not support the hypothesis that an autosomal dominant gene, fully penetrantmore » by age 90 years, is segregating within all these pedigrees. Despite the fact that all probands were selected for an onset before age 60 years it was shown that two types of families could be delineated with respect to age at onset among affected relatives: all secondary cases with an onset below age 60 years were contributed by a particular group of families (type 1 families), whereas all secondary cases with an onset after age 60 years were contributed by another group of families (type 2 families). Although genetic interpretation of these findings is not straightforward, they support the hypothesis of etiologic heterogeneity in the determinism of early-onset Alzheimer`s disease. 58 refs., 5 figs., 2 tabs.« less
Phenotypic Variability of Osteogenesis Imperfecta Type V Caused by an IFITM5 Mutation
Shapiro, Jay R; Lietman, Caressa; Grover, Monica; Lu, James T; Nagamani, Sandesh CS; Dawson, Brian C; Baldridge, Dustin M; Bainbridge, Matthew N; Cohn, Dan H; Blazo, Maria; Roberts, Timothy T; Brennen, Feng-Shu; Wu, Yimei; Gibbs, Richard A; Melvin, Pamela; Campeau, Philippe M; Lee, Brendan H
2013-01-01
In a large cohort of osteogenesis imperfecta type V (OI type V) patients (17 individuals from 12 families), we identified the same mutation in the 5′ untranslated region (5′UTR) of the interferon-induced transmembrane protein 5 (IFITM5) gene by whole exome and Sanger sequencing (IFITM5 c.–14C > T) and provide a detailed description of their phenotype. This mutation leads to the creation of a novel start codon adding five residues to IFITM5 and was recently reported in several other OI type V families. The variability of the phenotype was quite large even within families. Whereas some patients presented with the typical calcification of the forearm interosseous membrane, radial head dislocation and hyperplastic callus (HPC) formation following fractures, others had only some of the typical OI type V findings. Thirteen had calcification of interosseous membranes, 14 had radial head dislocations, 10 had HPC, 9 had long bone bowing, 11 could ambulate without assistance, and 1 had mild unilateral mixed hearing loss. The bone mineral density varied greatly, even within families. Our study thus highlights the phenotypic variability of OI type V caused by the IFITM5 mutation. PMID:23408678
Behavioral comparisons in autistic individuals from multiplex and singleton families.
Cuccaro, Michael L; Shao, Yujun; Bass, Meredyth P; Abramson, Ruth K; Ravan, Sarah A; Wright, Harry H; Wolpert, Chantelle M; Donnelly, Shannon L; Pericak-Vance, Margaret A
2003-02-01
Autistic disorder (AD) is a complex neurodevelopmental disorder. The role of genetics in AD etiology is well established, and it is postulated that anywhere from 2 to 10 genes could be involved. As part of a larger study to identify these genetic effects we have ascertained a series of AD families: Sporadic (SP, 1 known AD case per family and no known history of AD) and multiplex (MP, > or = 2 cases per family). The underlying etiology of both family types is unknown. It is possible that MP families may constitute a unique subset of families in which the disease phenotype is more likely due to genetic factors. Clinical differences between the two family types could represent underlying genetic heterogeneity. We examined ADI-R data for 69 probands from MP families and 88 from SP families in order to compare and contrast the clinical phenotypes for each group as a function of verbal versus nonverbal status. Multivariate analysis controlling for covariates of age at examination, gender, and race (MANCOVA) revealed no differences between either the verbal or nonverbal MP and SP groups for the three ADI-R area scores: social interaction, communication, and restricted/repetitive interests or behaviors. These data failed to find clinical heterogeneity between MP and SP family types. This supports previous work that indicated that autism features are not useful as tools to index genetic heterogeneity. Thus, although there may be different underlying etiologic mechanisms in the SP and MP probands, there are no distinct behavioral patterns associated with probands from MP families versus SP families. These results suggests the possibility that common etiologic mechanisms, either genetic and/or environmental, could underlie all of AD.
Conflict in the care of patients with prolonged stay in the ICU: types, sources, and predictors.
Studdert, David M; Mello, Michelle M; Burns, Jeffrey P; Puopolo, Ann Louise; Galper, Benjamin Z; Truog, Robert D; Brennan, Troyen A
2003-09-01
To determine types, sources, and predictors of conflicts among patients with prolonged stay in the ICU. We prospectively identified conflicts by interviewing treating physicians and nurses at two stages during the patients' stays. We then classified conflicts by type and source and used a case-control design to identify predictors of team-family conflicts. Seven medical and surgical ICUs at four teaching hospitals in Boston, USA. All patients admitted to the participating ICUs over an 11-month period whose stay exceeded the 85th percentile length of stay for their respective unit ( n=656). Clinicians identified 248 conflicts involving 209 patients; hence, nearly one-third of patients had conflict associated with their care: 142 conflicts (57%) were team-family disputes, 76 (31%) were intrateam disputes, and 30 (12%) occurred among family members. Disagreements over life-sustaining treatment led to 63 team-family conflicts (44%). Other leading sources were poor communication (44%), the unavailability of family decision makers (15%), and the surrogates' (perceived) inability to make decisions (16%). Nurses detected all types of conflict more frequently than physicians, especially intrateam conflicts. The presence of a spouse reduced the probability of team-family conflict generally (odds ratio 0.64) and team-family disputes over life-sustaining treatment specifically (odds ratio 0.49). Conflict is common in the care of patients with prolonged stays in the ICU. However, efforts to improve the quality of care for critically ill patients that focus on team-family disagreements over life-sustaining treatment miss significant discord in a variety of other areas.
Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance.
Celep, F; Uzumcu, A; Sonmez, F M; Uyguner, O; Balci, Y Isik; Bahadir, S; Karaguzel, A
2009-01-01
Monilethrix, a rare autosomal dominant disease characterized by hair fragility and follicular hyperkeratosis, is caused by mutations in three type II hair cortex keratins. The human keratin family comprises 54 members, 28 type I and 26 type II. The phenotype shows variable penetrance and results in hair fragility and patchy dystrophic alopecia. In our study, Monilethrix was diagnosed on the basis of clinical characteristics and microscopic examination in a family with 11 affected members. Haplotype analysis was performed by three Simple Tandem Repeat markers (STR) and KRT86 gene was sequenced for the identification of the disease causing mutation. In the results of this, autosomal dominant mutation (E402K) in exon 7 of KRT86 gene was identified as a cause of Moniltherix in the large family from Turkey.
Epidemiology of Usher syndrome in Valencia and Spain.
Espinós, C; Millán, J M; Beneyto, M; Nájera, C
1998-01-01
To obtain epidemiological data on the prevalence of the different types of Usher syndrome (US) in Spain, since these data were missing; to estimate the proportion of sporadic cases among simplex families, and calculate the prevalence of the Usher syndrome in a homogeneous population from Eastern Spain (3,875,234 inhabitants) that is representative of the Spanish population. Otological, ophthalmological and genetic studies were performed in 89 US patients from 46 families and subjected to statistical and segregation analysis. 41.6% of them suffered US type I, 46.1% type II, and in 12.3% the classification remains unclear. The estimated prevalence for the Province of Valencia was 4.2/100,000. There was a notable excess of male-only affected multiplex sibships in our sample that could be attributable to an X-linked inheritance. The number of families with USI type was similar to that of families with USII type. The estimated prevalence for the Province of Valencia is in agreement with other reports in which the estimate for the prevalence of US ranges from 1.8 to 6.2/100,000.
Osteogenesis imperfecta type I: Molecular heterogeneity for COL1A1 null alleles of type I collagen
DOE Office of Scientific and Technical Information (OSTI.GOV)
Willing, M.C.; Deschenes, S.P.; Pitts, S.H.
Osteogenesis imperfecta (OI) type I is the mildest form of inherited brittle-bone disease. Dermal fibroblasts from most affected individuals produce about half the usual amount of type I procollagen, as a result of a COL1A1 {open_quotes}null{close_quotes} allele. Using PCR amplification of genomic DNA from affected individuals, followed by denaturing gradient gel electrophoresis (DGGE) and SSCP, we identified seven different COL1A1 gene mutations in eight unrelated families with OI type I. Three families have single nucleotide substitutions that alter 5{prime} donor splice sites; two of these unrelated families have the same mutation. One family has a point mutation, in an exon,more » that creates a premature termination codon, and four have small deletions or insertions, within exons, that create translational frameshifts and new termination codons downstream of the mutation sites. Each mutation leads to both marked reduction in steady-state levels of mRNA from the mutant allele and a quantitative decrease in type I procollagen production. Our data demonstrate that different molecular mechanisms that have the same effect on type I collagen production result in the same clinical phenotype. 58 refs., 4 figs., 1 tab.« less
24 CFR 945.203 - Allocation plan.
Code of Federal Regulations, 2011 CFR
2011-04-01
... services should be equivalent to those available in the designated project and requested by non-elderly...; (iii) Representative advocacy groups for each of these family types: disabled families, elderly families, and families with children, where such advocacy groups exist; (iv) Representatives of the...
24 CFR 945.203 - Allocation plan.
Code of Federal Regulations, 2012 CFR
2012-04-01
... services should be equivalent to those available in the designated project and requested by non-elderly...; (iii) Representative advocacy groups for each of these family types: disabled families, elderly families, and families with children, where such advocacy groups exist; (iv) Representatives of the...
24 CFR 945.203 - Allocation plan.
Code of Federal Regulations, 2010 CFR
2010-04-01
... services should be equivalent to those available in the designated project and requested by non-elderly...; (iii) Representative advocacy groups for each of these family types: disabled families, elderly families, and families with children, where such advocacy groups exist; (iv) Representatives of the...
24 CFR 945.203 - Allocation plan.
Code of Federal Regulations, 2013 CFR
2013-04-01
... services should be equivalent to those available in the designated project and requested by non-elderly...; (iii) Representative advocacy groups for each of these family types: disabled families, elderly families, and families with children, where such advocacy groups exist; (iv) Representatives of the...
Krattenmacher, Thomas; Kühne, Franziska; Halverscheid, Susanne; Wiegand-Grefe, Silke; Bergelt, Corinna; Romer, Georg; Möller, Birgit
2014-03-01
To compare the emotional and behavioral problems of children of patients suffering from cancer or a mental disorder and their association with parental quality of life. A total of 223 children from 136 families and their 160 parents were investigated from multiple perspectives in a cross-sectional study. The consistency of different adjustment reports between family members was examined. Through mixed models, the differences between parental HRQoL and the children's symptomatology were studied with regard to the type of parental illness. The prediction of children's adjustment through parental HRQoL was further examined. Additionally, gender and age of the children were considered. Half of the children exhibited psychosocial problems. Gender and age differences were independent of the type of parental disease. In families with parental cancer, the reports of children's adjustment were more consistent between family members than in families where a parental mental disorder was present. We found differences in HRQoL between families with mentally ill parents and those with parental cancer patients. Specifically, the healthy partners of mentally ill parents showed worse HRQoL compared with healthy partners of cancer patients. Healthy parents' reduced HRQoL was associated with worse adjustment in their children, regardless of the type of parental illness, but this result was not found for ill parents. Family members confronted with parental cancer or mental disorders are more burdened compared with those from the "normal" population, independently of the type of disease. Our results indicate that the type of a parental disease has no direct effect on children's adjustment. However, there are disease-specific effects on parental HRQoL, which are associated with children's adjustment. Copyright © 2013 Elsevier Inc. All rights reserved.
Single Mothers by Choice: Mother–Child Relationships and Children’s Psychological Adjustment
2016-01-01
Fifty-one solo mother families were compared with 52 two-parent families all with a 4–9-year-old child conceived by donor insemination. Standardized interview, observational and questionnaire measures of maternal wellbeing, mother–child relationships and child adjustment were administered to mothers, children and teachers. There were no differences in parenting quality between family types apart from lower mother–child conflict in solo mother families. Neither were there differences in child adjustment. Perceived financial difficulties, child’s gender, and parenting stress were associated with children’s adjustment problems in both family types. The findings suggest that solo motherhood, in itself, does not result in psychological problems for children. PMID:26866836
Merlo, Manuel A; Cross, Ismael; Palazón, José L; Ubeda-Manzanaro, María; Sarasquete, Carmen; Rebordinos, Laureana
2012-10-07
The Batrachoididae family is a group of marine teleosts that includes several species with more complicated physiological characteristics, such as their excretory, reproductive, cardiovascular and respiratory systems. Previous studies of the 5S rDNA gene family carried out in four species from the Western Atlantic showed two types of this gene in two species but only one in the other two, under processes of concerted evolution and birth-and-death evolution with purifying selection. Here we present results of the 5S rDNA and another two gene families in Halobatrachus didactylus, an Eastern Atlantic species, and draw evolutionary inferences regarding the gene families. In addition we have also mapped the genes on the chromosomes by two-colour fluorescence in situ hybridization (FISH). Two types of 5S rDNA were observed, named type α and type β. Molecular analysis of the 5S rDNA indicates that H. didactylus does not share the non-transcribed spacer (NTS) sequences with four other species of the family; therefore, it must have evolved in isolation. Amplification with the type β specific primers amplified a specific band in 9 specimens of H. didactylus and two of Sparus aurata. Both types showed regulatory regions and a secondary structure which mark them as functional genes. However, the U2 snRNA gene and the ITS-1 sequence showed one electrophoretic band and with one type of sequence. The U2 snRNA sequence was the most variable of the three multigene families studied. Results from two-colour FISH showed no co-localization of the gene coding from three multigene families and provided the first map of the chromosomes of the species. A highly significant finding was observed in the analysis of the 5S rDNA, since two such distant species as H. didactylus and Sparus aurata share a 5S rDNA type. This 5S rDNA type has been detected in other species belonging to the Batrachoidiformes and Perciformes orders, but not in the Pleuronectiformes and Clupeiformes orders. Two hypotheses have been outlined: one is the possible vertical permanence of the shared type in some fish lineages, and the other is the possibility of a horizontal transference event between ancient species of the Perciformes and Batrachoidiformes orders. This finding opens a new perspective in fish evolution and in the knowledge of the dynamism of the 5S rDNA. Cytogenetic analysis allowed some evolutionary trends to be roughed out, such as the progressive change in the U2 snDNA and the organization of (GATA)n repeats, from dispersed to localized in one locus. The accumulation of (GATA)n repeats in one chromosome pair could be implicated in the evolution of a pair of proto-sex chromosomes. This possibility could situate H. didactylus as the most highly evolved of the Batrachoididae family in terms of sex chromosome biology.
NASA Astrophysics Data System (ADS)
Bouchal, Johannes Martin; Grímsson, Friðgeir; Denk, Thomas
2016-04-01
The excavated main lignite seams and overlying lacustrine sediments of the opencast mines Eskihisar, Salihpaşalar, and Tı naz, Muǧla Province, south-western Turkey were investigated using a high taxonomic resolution palynological approach. The Eskihisar section comprises 47m and 56 samples of which 30 were usable for palynological analysis. The Tı naz section comprises 75 m and 29 samples of which 15 were usable for palynological analysis. Finally, the Salihpaşalar section comprises 25 m and 26 samples of which 16 were usable for palynological analysis. The age of the palynological sections is middle to late Miocene based on radiometric dating and vertebrate fossils. In order to investigate dispersed pollen and spores and their botanical affinities a combined light microscopy and scanning electron microscopy approach was used. The rich palynoflora comprises: seven types of algal cysts (Botryococcus, Zygnemataceae), seventeen spore types belonging to Lycopsida (club mosses), Marsileaceae (water-clover), Osmundaceae, Pteridaceae (brake), and Polypodiaceae; 14 types of gymnosperm pollen belonging to Ephedraceae (Mormon tea), Cupressaceae, Pinaceae (Cathaya, cedar, hemlock, pine, spruce); five types of monocotyledone pollen belonging to Poaceae (grasses, common reed), and Typhaceae (bulrush, bur-reed); ca 90 dicotyledone pollen types belonging to Altingiaceae (sweet gum), Amaranthaceae (goosefoot), Anacardiaceae (sumac family), Apiaceae (parsley family), Aquifoliaceae (holly), Asteraceae (sunflower family), Betulaceae (alder, birch, hazel, hophornbeam, hornbeam), Campanulaceae (bellflower family), Cannabaceae (hackberries), Caprifoliaceae (honeysuckle, teasel family), Caryophyllaceae (pink family), Ericaceae (heather family), Eucommiaceae, Euphorbiaceae (spurge family), Fabaceae (bean family), Fagaceae (beech, oak), Geraniaceae (storkbills), Juglandaceae (hickory, walnut, wingnut), Lamiaceae (bagflower), Linaceae (flax), Lythraceae (waterwillow), Malvaceae (basswood, mallow family), Myricaceae (bayberry), Oleaceae (olive family), Onagraceae (evening primrose family), Plumbaginaceae (sea-lavender), Polygonaceae (docks, knotweed), Ranunculaceae (buttercup family), Rosaceae (rose family), Salicaceae (willow), Sapindaceae (maple), Sapotaceae, and Ulmaceae (elm, Zelkova). The objectives of this investigation were (1) to evaluate whether the three palynological sections were deposited at the same time, and (2) to show regional vegetation differences within a single sedimentary basin. We found three general pollen zones corresponding to different sedimentary settings and palaeoenvironments. The first pollen zone was linked to lignite formation (swamp forest, fern spores, Alnus, Decodon). The second pollen zone reflects lacustrine conditions (Typhaceae) and surrounding hinterland vegetation dominated by Fagaceae. The third pollen zone is dominated by herbaceous taxa, whereas woody taxa are less diverse and less abundant. In general, the three palynological sections are congruent in reflecting distinct pollen zones. However main vegetation types may be represented by different dominating taxa (e. g. Alnus dominace in Eskihisar and Tı naz localities while absent in Salihpaşalar) and rare taxa may differ between localities. Our results demonstrate that in order to achieve a comprehensive understanding of environmental and vegetation conditions in a sedimentary basin, a single palynological section (locality) may not capture the entirety of environmental conditions and changes.
Short-term exposure to engineered nanomaterials affects cellular epigenome
Lu, Xiaoyan; Miousse, Isabelle R.; Pirela, Sandra V.; Melnyk, Stepan; Koturbash, Igor; Demokritou, Philip
2015-01-01
Extensive incorporation of engineered nanomaterials (ENMs) into industrial and biomedical applications increases the risks of exposure to these potentially hazardous materials. While the geno- and cytotoxic effects of ENMs have been investigated, the potential of ENMs to target the cellular epigenome remains largely unknown. Our goal was to determine whether or not industry relevant ENMs can affect the epigenome at low cytotoxic doses. A panel of cells relevant to inhalation exposures such as human and murine macrophages (THP-1 and RAW264.7, respectively) and human small airway epithelial cells (SAEC) were exposed to printer-emitted engineered nanoparticles (PEPs), mild steel welding fumes (MS-WF), copper oxide (CuO), and titanium dioxide (TiO2) nanoparticles. Toxicological effects, including cytotoxicity, oxidative stress, and inflammatory responses were assessed, taking into consideration in-vitro dosimetry. The effects of ENMs on cellular epigenome were determined by addressing the global and transposable elements (TEs)-associated DNA methylation and expression of DNA methylation machinery and TEs. The percentage of ENMs-induced cytotoxicity for all cell lines was in the range of 0-15%. Oxidative stress was evident in SAEC after exposure to PEPs and in THP-1 when exposed to CuO. Additionally, exposure to ENMs resulted in modest alterations in DNA methylation of two most abundant TEs in mammalian genomes, LINE-1 and Alu/SINE, their transcriptional reactivation, and decreased expression of DNA methylation machinery in a cell-, dose-, and ENM-dependent manner. These results indicate that exposure to ENMs at environmentally relevant concentrations, aside from the geno- and cytotoxic effects, can also affect the epigenome of target cells. PMID:25938281
Aouacheria, Abdel; Geourjon, Christophe; Aghajari, Nushin; Navratil, Vincent; Deléage, Gilbert; Lethias, Claire; Exposito, Jean-Yves
2006-12-01
Collagens are thought to represent one of the most important molecular innovations in the metazoan line. Basement membrane type IV collagen is present in all Eumetazoa and was found in Homoscleromorpha, a sponge group with a well-organized epithelium, which may represent the first stage of tissue differentiation during animal evolution. In contrast, spongin seems to be a demosponge-specific collagenous protein, which can totally substitute an inorganic skeleton, such as in the well-known bath sponge. In the freshwater sponge Ephydatia mülleri, we previously characterized a family of short-chain collagens that are likely to be main components of spongins. Using a combination of sequence- and structure-based methods, we present evidence of remote homology between the carboxyl-terminal noncollagenous NC1 domain of spongin short-chain collagens and type IV collagen. Unexpectedly, spongin short-chain collagen-related proteins were retrieved in nonsponge animals, suggesting that a family related to spongin constitutes an evolutionary sister to the type IV collagen family. Formation of the ancestral NC1 domain and divergence of the spongin short-chain collagen-related and type IV collagen families may have occurred before the parazoan-eumetazoan split, the earliest divergence among extant animal phyla. Molecular phylogenetics based on NC1 domain sequences suggest distinct evolutionary histories for spongin short-chain collagen-related and type IV collagen families that include spongin short-chain collagen-related gene loss in the ancestors of Ecdyzosoa and of vertebrates. The fact that a majority of invertebrates encodes spongin short-chain collagen-related proteins raises the important question to the possible function of its members. Considering the importance of collagens for animal structure and substratum attachment, both families may have played crucial roles in animal diversification.
van Esch, S C M; Nijkamp, M D; Cornel, M C; Snoek, F J
2012-12-01
Patients with Type 2 diabetes may play a role as intermediary between medical professionals and at-risk relatives to promote diabetes prevention in their family. This study aimed to further our understanding of factors that influence the decisional process of familial risk disclosure in patients with diabetes. In a cross-sectional study, patients with Type 2 diabetes (n = 546) filled in a questionnaire assessing family risk perception, worry, personal beliefs regarding diabetes prevention, diabetes-related family communication, intention and perceived ability to inform relatives about familial risk of diabetes. Data were analysed using hierarchical logistic regression and multiple mediation analyses. Sixty per cent of the patients were willing to inform their relatives about familial diabetes risk; 61% reported high family risk perception and 41% had positive control beliefs with regard to preventive options in relatives. A majority (69%) did not express serious concern about relatives developing diabetes. Worry about relatives, knowing what to tell, whom to notify, and communication about diabetes in general appeared to facilitate family risk disclosure. Unexpectedly, high family risk perception in itself did not significantly increase patients' intentions to inform relatives; rather, risk perception appeared to exert an indirect effect through worry and beliefs about diabetes prevention. Worry in patients with diabetes appears to be a key factor in the process of family risk disclosure. When professionals guide their patients in this process, they should not only provide risk information, but also address worries and emphasize opportunities for diabetes prevention. © 2012 The Authors. Diabetic Medicine © 2012 Diabetes UK.
An Analysis of Adult-Child Interaction Patterns in Three-Generational Black Families.
ERIC Educational Resources Information Center
Wilson, Melvin N.; Tolson, Timothy F. J.
This report describes results of contingency-table analyses conducted on four types of black families. Eight families from a sample of 30 families who had been filmed on four occasions during evening meals are discussed as case studies. Two families chosen from each cell of a 2 x 2 factorial design consisting of family structure (one versus two…
Berger, Lawrence M.
2018-01-01
A vast amount of literature has documented negative associations between family instability and child development, with the largest associations being in the socioemotional (behavioral) domain. Yet, prior work has paid limited attention to differentiating the role of the number, types, and sequencing of family transitions that children experience, as well as to understanding potential heterogeneity in these associations by family structure at birth. We use data from the Fragile Families and Child Wellbeing Study and hierarchical linear models to examine associations of family structure states and transitions with children’s socioemotional development during the first nine years of life. We pay close attention to the type and number of family structure transitions experienced and examine whether associations differ depending on family structure at birth. For children born to cohabiting or noncoresident parents, we find little evidence that subsequent family structure experiences are associated with socioemotional development. For children born to married parents, we find associations between family instability and poorer socioemotional development. However, this largely reflects the influence of parental breakup; we find little evidence that socioemotional trajectories differ for children with various family structure experiences subsequent to their parents’ breakup. PMID:28299560
Bzostek, Sharon H; Berger, Lawrence M
2017-04-01
A vast amount of literature has documented negative associations between family instability and child development, with the largest associations being in the socioemotional (behavioral) domain. Yet, prior work has paid limited attention to differentiating the role of the number, types, and sequencing of family transitions that children experience, as well as to understanding potential heterogeneity in these associations by family structure at birth. We use data from the Fragile Families and Child Wellbeing Study and hierarchical linear models to examine associations of family structure states and transitions with children's socioemotional development during the first nine years of life. We pay close attention to the type and number of family structure transitions experienced and examine whether associations differ depending on family structure at birth. For children born to cohabiting or noncoresident parents, we find little evidence that subsequent family structure experiences are associated with socioemotional development. For children born to married parents, we find associations between family instability and poorer socioemotional development. However, this largely reflects the influence of parental breakup; we find little evidence that socioemotional trajectories differ for children with various family structure experiences subsequent to their parents' breakup.
The Greek family system when a child has diabetes mellitus type 1.
Tsamparli, A; Kounenou, K
2004-12-01
To depict the characteristic ways that families who have a child suffering from diabetes and face difficulties with metabolic control function. In addition, to reveal the ways that this functioning is related to metabolic control problems. Qualitative methods were used, including an in-depth interview and observation of 30 Greek families having one child suffering from diabetes mellitus type 1 and facing difficulties with metabolic control. An average of 10 meetings were conducted with each family, including separate meetings with each individual family member, the parental couple and the family as a whole. Methods were based on thematic categories provided by the model of the "psychosomatic family". The presence of the disease and the requirements of the treatment regimen seemed to be associated with certain family characteristics: enmeshed relationships, ambiguous roles and rules, break down of hierarchy, coalition between mother and patient, absence of father's involvement and "infantilization" of the suffering child. Also in such families, healthy siblings are assigned parental roles and, finally, the families present signs of social exclusion. The study provides important findings concerning the psychological characteristics of the families under study. The present ways of functioning are associated with the difficulties families face when coping with the treatment regimen.
5 CFR 890.101 - Definitions; time computations.
Code of Federal Regulations, 2014 CFR
2014-01-01
... organization, former spouse, health benefits plan, member of family, and service, have the meanings set forth... different type of coverage (self only or self and family). Claim means a request for (i) payment of a health... enrollee or a covered family member. Covered family member means a member of the family of an enrollee with...
5 CFR 890.101 - Definitions; time computations.
Code of Federal Regulations, 2012 CFR
2012-01-01
... organization, former spouse, health benefits plan, member of family, and service, have the meanings set forth... different type of coverage (self only or self and family). Claim means a request for (i) payment of a health... enrollee or a covered family member. Covered family member means a member of the family of an enrollee with...
5 CFR 890.101 - Definitions; time computations.
Code of Federal Regulations, 2010 CFR
2010-01-01
... organization, former spouse, health benefits plan, member of family, and service, have the meanings set forth... different type of coverage (self only or self and family). Claim means a request for (i) payment of a health... enrollee or a covered family member. Covered family member means a member of the family of an enrollee with...
5 CFR 890.101 - Definitions; time computations.
Code of Federal Regulations, 2011 CFR
2011-01-01
... organization, former spouse, health benefits plan, member of family, and service, have the meanings set forth... different type of coverage (self only or self and family). Claim means a request for (i) payment of a health... enrollee or a covered family member. Covered family member means a member of the family of an enrollee with...
5 CFR 890.101 - Definitions; time computations.
Code of Federal Regulations, 2013 CFR
2013-01-01
... organization, former spouse, health benefits plan, member of family, and service, have the meanings set forth... different type of coverage (self only or self and family). Claim means a request for (i) payment of a health... enrollee or a covered family member. Covered family member means a member of the family of an enrollee with...
Parent-Child Relationships in Nondivorced, Divorced Single-Mother, and Remarried Families.
ERIC Educational Resources Information Center
Hagan, Margaret Stanley; And Others
1992-01-01
Over time, mother-child relationships in families with remarried mothers grew increasingly similar to those in families whose parents had never divorced. Relationships in single-mother families remained different from those in the other two types of families. Stepfathers were less likely to be authoritative than were nondivorced fathers. (BC)
Trends in Family Income: 1970-1986.
ERIC Educational Resources Information Center
Williams, Roberton C.
Comparing the experiences of different types of families, this report analyzes family incomes in the United States from 1970 to 1986. The adjusted family income (AFI) measure used in the analysis corrects for family size and for inflation, but does not take account of either in-kind income or taxes. After a section summarizing the report's…
The Family Contexts of Children's Sibling Relationships.
ERIC Educational Resources Information Center
McHale, Susan M.; Crouter, Ann C.
1996-01-01
Unlike much previous research on sibling relationships, which emphasizes the congruence across various types of family experiences, the research described in this article explored between-family differences in patterns of experiences within families. The work is built upon Bronfenbrenner's ecological model and Magnusson's interactional…
Type of childcare at 18 months--I. Differences in interactional experience.
Melhuish, E C; Mooney, A; Martin, S; Lloyd, E
1990-09-01
A longitudinal study has followed two-parent families and their first-born child. The families were chosen so that there were three groups of dual-earner families using relatives, childminders and nurseries for day care and one group of single-earner families. At 18 mths of age children in the study were observed in the four types of childcare setting. The data from the detailed observations were used to compare the children's interactional experience. The results indicate marked variation in the quality of children's experiences between different childcare settings. Possible reasons for such variation are discussed.
Stone, Deborah M; Luo, Feijun; Lippy, Caroline; McIntosh, Wendy LiKamWa
2015-08-01
The impact of types of social connectedness-family, other adult, and school-on suicide ideation and attempts among all youth, the relative impact of each type, and effect modification by sexual orientation was assessed. Data were from the 2007-2009 Milwaukee Youth Risk Behavior Surveys. Multivariable logistic regression analyses calculated the risk of suicide ideation and attempts by sexual orientation, types of social connectedness, and their interaction. Among all youth, each type of connectedness modeled singly conferred protective effects for suicide ideation. Family and other adult connectedness protected against suicide attempts. When modeled simultaneously, family connectedness protected against ideation and attempts. Sexual orientation modified the association between other adult connectedness and suicide ideation. Findings suggest that family connectedness confers the most consistent protection among all youth and sexual orientation does not generally modify the association between connectedness and suicidal behavior. © Published 2014. This article is a U.S. Government work and is in the public domain in the USA.
Wong, Jen D; Shobo, Yetunde
2017-07-01
Guided by the life-course perspective, this study contributes to the family caregiving, aging, and disability literature by examining the daily experiences of three types of family caregivers in midlife and late adulthood. A sample of 162 caregivers from the National Survey of Midlife in the United States study completed interviews, questionnaires, and a Daily Diary Study. Multilevel models showed the patterns of daily time use did not differ by caregiver types. Caregivers of sons/daughters with developmental disabilities (DD) experienced more daily stressors than caregivers of parents with health conditions (HC) and caregivers of spouses with HC. Unmarried caregivers of sons/daughters with DD reported spending more time on daily leisure activities and exhibited greater daily stressor exposure than other family caregivers. Age did not moderate the associations between caregiver types and daily experiences. Findings highlight the important consideration of the caregivers' characteristics to better determine the quality of their daily experiences in midlife and late adulthood.
The Usher syndrome in the Lebanese population and further refinement of the USH2A candidate region.
Saouda, M; Mansour, A; Bou Moglabey, Y; El Zir, E; Mustapha, M; Chaib, H; Nehmé, A; Mégarbané, A; Loiselet, J; Petit, C; Slim, R
1998-08-01
Usher syndrome (USH) is an autosomal-recessive disease characterized by neurosensory deafness and progressive retinitis pigmentosa. So far, three clinical types of Usher syndrome have been defined, and are caused by defects at more than eight loci. We report the linkage analysis of seven Lebanese families with Usher syndrome, two with type I (USH1) and five with type II (USH2). We demonstrate that one family is linked to the USH1C locus, a rare form of USH1 only reported in the French Acadian population. Linkage analysis of the five USH2 families with recently mapped loci allowed us to reduce the USH2A candidate region to a very small interval flanked by D1S2646/D1S2629 and D1S2827. Furthermore, haplotype comparison between the different families suggests a founder effect for the USH2A mutation among the different Lebanese ethnic groups, while a genetic heterogeneity is noted for Usher syndrome type I.
Structure of Gremlin-2 in Complex with GDF5 Gives Insight into DAN-Family-Mediated BMP Antagonism.
Nolan, Kristof; Kattamuri, Chandramohan; Rankin, Scott A; Read, Randy J; Zorn, Aaron M; Thompson, Thomas B
2016-08-23
The DAN family, including Gremlin-1 and Gremlin-2 (Grem1 and Grem2), represents a large family of secreted BMP (bone morphogenetic protein) antagonists. However, how DAN proteins specifically inhibit BMP signaling has remained elusive. Here, we report the structure of Grem2 bound to GDF5 at 2.9-Å resolution. The structure reveals two Grem2 dimers binding perpendicularly to each GDF5 monomer, resembling an H-like structure. Comparison to the unbound Grem2 structure reveals a dynamic N terminus that undergoes significant transition upon complex formation, leading to simultaneous interaction with the type I and type II receptor motifs on GDF5. Binding studies show that DAN-family members can interact with BMP-type I receptor complexes, whereas Noggin outcompetes the type I receptor for ligand binding. Interestingly, Grem2-GDF5 forms a stable aggregate-like structure in vitro that is not clearly observed for other antagonists, including Noggin and Follistatin. These findings exemplify the structural and functional diversity across the various BMP antagonist families. Copyright © 2016 The Author(s). Published by Elsevier Inc. All rights reserved.
Vasanthakumar, Ajithkumar; Kallies, Axel
2017-11-03
Cytokines play an integral role in shaping innate and adaptive immune responses. Members of the interleukin (IL)-1 family regulate a plethora of immune-cell-mediated processes, which include pathogen defense and tissue homeostasis. Notably, the IL-1 family cytokine IL-33 promotes adaptive and innate type 2 immune responses, confers viral protection and facilitates glucose metabolism and tissue repair. At the cellular level, IL-33 stimulates differentiation, maintenance, and function of various immune cell types, including regulatory T cells, effector CD4 + and CD8 + T cells, macrophages, and type 2 innate lymphoid cells (ILC2s). Other IL-1 family members, such as IL-1β and IL-18 promote type 1 responses, while IL-37 limits immune activation. Although IL-1 cytokines play critical roles in immunity and tissue repair, their deregulated expression is often linked to autoimmune and inflammatory diseases. Therefore, IL-1 cytokines are regulated tightly by posttranscriptional mechanisms and decoy receptors. In this review, we discuss the biology and function of IL-1 family cytokines, with a specific focus on regulation and function of IL-33 in immune and tissue homeostasis. Copyright © 2017 Cold Spring Harbor Laboratory Press; all rights reserved.
Petruzelkova, L; Dusatkova, P; Cinek, O; Sumnik, Z; Pruhova, S; Hradsky, O; Vcelakova, J; Lebl, J; Kolouskova, S
2016-12-01
Patients with maturity-onset diabetes of the young (MODY) might be over-represented in families with histories of Type 1 diabetes. Our aim was to re-evaluate families participating in the Czech T1D Prediction Programme (PREDIA.CZ) with at least two members affected with diabetes to assess the proportion of MODY among these families and determine its most significant clinical predictors. Of the 557 families followed up by the PREDIA.CZ, 53 (9.5%) had two or more family members with diabetes. One proband with diabetes from these families was chosen for direct sequencing of the GCK, HNF1A, HNF4A and INS genes. Non-parametric tests and a linear logistic regression model were used to evaluate differences between MODY and non-MODY families. MODY was genetically diagnosed in 24 of the 53 families with multiple occurrences of diabetes (45%). Mutations were detected most frequently in GCK (58%), followed by HNF1A (38%) and INS (4%). MODY families were more likely to have a parent with diabetes and had a higher proportion of females with diabetes than non-MODY families. Higher age (P < 0.001), a lower level of HbA 1c (P < 0.001) at clinical onset and at least two generations affected by diabetes were the variables most predictive for probands of MODY families already presenting with diabetes. A prediction programme for Type 1 diabetes would provide a useful new source of patients with MODY most likely to benefit from an accurate diagnosis. This identification has implications for patient treatment and disease prognosis. © 2015 Diabetes UK.
DOE Office of Scientific and Technical Information (OSTI.GOV)
Ionasescu, V.V.; Searby, C.C.; Ionasescu, R.
1994-09-01
The purpose of this study was to compare the X-linked dominant type CMTX1 (20 families) with X-linked recessive types CMTX2 and CMTX3 (2 families). The clinical phenotype was consistent with CMT peripheral neuropathy in all cases including distal weakness, atrophy and sensory loss, pes cavus and areflexia. Additional clinicial involvement of the central nervous system was present in one family with CMTX2 (mental retardation) and one family with CMTX3 (spastic paraparesis). Tight genetic linkage to Xq13.1 was present in 20 families with CMTX1 (Z=34.07 at {theta}=0) for the marker DXS453. Fifteen of the CMTX1 families showed point mutations of themore » connexin 32 coding region (5 nonsense mutations, 8 missense mutations, 2 deletions). Five CMTX1 neuropathy families showed no evidence of point mutations of the CX32 coding sequence. These findings suggest that the CMTX1 neuropathy genotype in these families may be the result of promoter mutations, 3{prime}-untranslated region mutations or exon/intron splice site mutations or a mutation with a different type of connexin but which has close structural similarities to CX32. No mutations of the CX32 coding region were found in the CMTX2 or CMTX3 families. Linkage to Xq13.1 was excluded in both families. Genetic linkage to Xp22.2 was present in the CMTX2 family (Z=3.54 at {theta}=0) for the markers DXS987 and DXS999. Suggestion of linkage to Xq26 (Z=1.81 at {theta}=0) for the marker DXS86 was present in the CMTX3 family.« less
Kinnunen, Ulla; Feldt, Taru; Geurts, Sabine; Pulkkinen, Lea
2006-04-01
The aim of the present study was to test the structure of the work-family interface measure, which was intended to take into account both the positive and negative spillover between work and family demands in both directions. In addition, the links among the types of work-family spillover and the subjects' general and domain-specific well-being were examined. The sample (n = 202) consisted of Finnish employees, aged 42, who had a spouse/partner. Confirmatory factor analyses indicated that a four-factor model, including negative work-to-family spillover, negative family-to-work spillover, positive work-to-family spillover, and positive family-to-work spillover, was superior compared to the other factor models examined. Path analysis showed, as hypothesized, that the negative work-to-family spillover was most strongly related to low well-being at work (job exhaustion) and next strongly to low general well-being (psychological distress), whereas the negative family-to-work spillover was associated with low well-being in the domain of family (marital dissatisfaction). Positive work-to-family spillover was positively related both to well-being at work and general well-being. Inconsistent with our expectations, positive family-to-work spillover was not directly related to any of the well-being indicators examined.
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Self-Esteem of Rural Teens: Results for Three Family Types.
ERIC Educational Resources Information Center
Hall, Anita M.; Rowe, George P.
1991-01-01
A total of 108 (of 200) adolescents completed the Coopersmith Self-Esteem Inventory and family characteristics questionnaire. Results showed that it is not the structure of the family but the degree of discord within the family that influences self-esteem. (Author/JOW)
ERIC Educational Resources Information Center
Gaugler, Joseph E.; Kane, Robert L.
2007-01-01
Purpose: Despite growing research on assisted living (AL) as a residential care option for older adults, the social ramifications of residents' transitions to AL are relatively unexplored. This article examines family involvement in AL, including family structures of residents, types of involvement from family members living outside the AL…
Family Closeness and Domestic Abuse Among Caribbean and South American Women in South Florida
Rojas, Patria; Dillon, Frank R.; Duan, Rui; De La Rosa, Mario
2017-01-01
This paper focuses on the importance of family member closeness as a protective factor against domestic abuse. We explore the link between long-lasting relations within the family and intra-familial violence perpetrated against women in Latino households in South Florida. We use data from an Inter-generational Transmission of Drug Use between Latina Mothers and Daughters (ITDMD) study. The study includes data on family relations and domestic abuse. We estimate a series of multivariate regressions to obtain the probability of abuse against women, the types of abuse inflicted and the relationship with the abusers. Our results indicate that among abused women, the effects of long-lasting relations within the family differ depending on the type of relationship between the abuser and the victim and the degree of closeness the victim feels towards other family members. Given these findings, there is a need to further study family relations and abuse in Latino households. PMID:29033494
Attitudes toward Assisted Suicide: Does Family Context Matter?
Frey, Laura M; Hans, Jason D
2016-01-01
Little is known about how family-related contextual variables impact attitudes toward assisted suicide. A probability sample (N = 272) responded to a multiple-segment factorial vignette designed to examine the effects of 6 variables-patient sex, age, type of illness, relationship status, parenthood status, and family support-on attitudes toward physician- and family-assisted suicide. Respondents were more likely to support physician-assisted suicide if they heard about an older patient or a patient experiencing physical pain than a younger patient or one suffering from depression, respectively. For family-assisted suicide, respondent support was higher when the patient had physical pain than depression, and when the patient's spouse or friend was supportive of the wish to die than unsupportive. Attitudes about physician and family obligation to inform others were affected by type of illness, relationship status, family support, and respondent education and religiosity. The experience of pain, motivations for family involvement, confidentiality issues, and physicians' biases concerning assisted suicide are discussed.
Diabetes care provider perceptions on family challenges of pediatric type 1 diabetes
USDA-ARS?s Scientific Manuscript database
Pediatric healthcare providers' perspectives on barriers to diabetes self-management among youth with type 1 diabetes and strategies to overcome them were explored qualitatively. Family conflict about diabetes care was viewed as a common problem, addressable by behavioral interventions to improve co...
Cabrera Pivaral, C E; Gutiérrez Roman, E A; Gonzalez Pérez, G; Gonzalez Reyes, F; Valadez Toscano, F; Gutiérrez Ruvalcaba, C; Rios Riebeling, C D
2008-02-01
There are 180,000 new Diabetes Mellitus cases in Mexico each year (1). This chronic, complex and multifactor disease requires an adequate nutritional management plan to be prescribed by family physicians. They should be trained to identify the potential difficulties in the patient's dietary schedule and orientate their management from an integrative point of view. The purpose of this study was to detect and measure family physician's clinical aptitudes for the nutritional management of Type 2 diabetes, in a representative family physician's sample from five Family Medicine Units of the Mexican Institute of Social Security in Guadalajara, Jalisco, Mexico. A structured and validated instrument was applied to 117 physicians from a total of 450 in Guadalajara, Jalisco. The main study variable was clinical aptitude for nutritional management of Type 2 diabetes. Aptitude levels were defined by an ordinal scale and related to the other variables using the median, Mann-Whitney's U test and Kruskal Wallis (KW) test. Global results showed a median of 30 points that relates to a low and a very low aptitude level for the 72% of physicians without statistical significance (KW: p>0.05) with the rest of variables. These results reflect family physician's difficulties to orientate the nutritional management of Type 2 diabetes, as well as the lack of work environments that facilitate case reflection and formative educational strategies.
Germinal mosaicism of PAX3 mutation caused Waardenburg syndrome type I.
Chen, Kaitian; Zhan, Yuan; Wu, Xuan; Zong, Ling; Jiang, Hongyan
2018-01-01
Waardenburg syndrome mutations are most often recurrent or de novo. The rate of familial recurrence is low and families with several affected children are extremely rare. In this study, we aimed to clarify the underlying hereditary cause of Waardenburg syndrome type I in two siblings in a Chinese family, with a mother affected by prelingual mild hearing loss and a father who was negative for clinical symptoms of Waardenburg syndrome and had a normal hearing threshold. Complete characteristic features of the family members were recorded and genetic sequencing and parent-child relationship analyses were performed. The two probands were found to share double mutations in the PAX3/GJB2 genes that caused concurrent hearing loss in Waardenburg syndrome type I. Their mother carried the GJB2 c.109G > A homozygous mutation; however, neither the novel PAX3 c.592delG mutation, nor the Waardenburg syndrome phenotype, was observed in either parent. These previously unreported digenic mutations in PAX3/GJB2 resulted in deafness associated with Waardenburg syndrome type I in this family. To our knowledge, this is the first report describing germinal mosaicism in Waardenburg syndrome. This concept is important because it complicates genetic counseling of this family regarding the risk of recurrence of the mutations in subsequent pregnancies. Copyright © 2017 Elsevier B.V. All rights reserved.
Aung, Wah Wah; Ei, Phyu Win; Nyunt, Wint Wint; Swe, Thyn Lei; Lwin, Thandar; Htwe, Mi Mi; Kim, Kyung Jun; Lee, Jong Seok; Kim, Chang Ki; Cho, Sang Nae; Song, Sun Dae; Chang, Chulhun L
2015-09-01
Tuberculosis (TB) is one of the most serious health problems in Myanmar. Because TB drug resistance is associated with genetic mutation(s) relevant to responses to each drug, genotypic methods for detecting these mutations have been proposed to overcome the limitations of classic phenotypic drug susceptibility testing (DST). We explored the current estimates of drug-resistant TB and evaluated the usefulness of genotypic DST in Myanmar. We determined the drug susceptibility of Mycobacterium tuberculosis isolated from sputum smear-positive patients with newly diagnosed pulmonary TB at two main TB centers in Myanmar during 2013 by using conventional phenotypic DST and the GenoType MTBDRplus assay (Hain Lifescience, Germany). Discrepant results were confirmed by sequencing the genes relevant to each type of resistance (rpoB for rifampicin; katG and inhA for isoniazid). Of 191 isolates, phenotypic DST showed that 27.7% (n=53) were resistant to at least one first-line drug and 20.9% (n=40) were resistant to two or more, including 18.3% (n=35) multidrug-resistant TB (MDR-TB) strains. Monoresistant strains accounted for 6.8% (n=13) of the samples. Genotypic assay of 189 isolates showed 17.5% (n=33) MDR-TB and 5.3% (n=10) isoniazid-monoresistant strains. Genotypic susceptibility results were 99.5% (n=188) concordant and agreed almost perfectly with phenotypic DST (kappa=0.99; 95% confidence interval 0.96-1.01). The results highlight the burden of TB drug resistance and prove the usefulness of the genotypic DST in Myanmar.
Addo, Kennedy Kwasi; Addo, Samuel Ofori; Mensah, Gloria Ivy; Mosi, Lydia; Bonsu, Frank Adae
2017-12-02
Mycobacterium tuberculosis complex (MTBC) and Non-tuberculosis Mycobacterium (NTM) infections differ clinically, making rapid identification and drug susceptibility testing (DST) very critical for infection control and drug therapy. This study aims to use World Health Organization (WHO) approved line probe assay (LPA) to differentiate mycobacterial isolates obtained from tuberculosis (TB) prevalence survey in Ghana and to determine their drug resistance patterns. A retrospective study was conducted whereby a total of 361 mycobacterial isolates were differentiated and their drug resistance patterns determined using GenoType Mycobacterium Assays: MTBC and CM/AS for differentiating MTBC and NTM as well MTBDRplus and NTM-DR for DST of MTBC and NTM respectively. Out of 361 isolates, 165 (45.7%) MTBC and 120 (33.2%) NTM (made up of 14 different species) were identified to the species levels whiles 76 (21.1%) could not be completely identified. The MTBC comprised 161 (97.6%) Mycobacterium tuberculosis and 4 (2.4%) Mycobacterium africanum. Isoniazid and rifampicin monoresistant MTBC isolates were 18/165 (10.9%) and 2/165(1.2%) respectively whiles 11/165 (6.7%) were resistant to both drugs. Majority 42/120 (35%) of NTM were M. fortuitum. DST of 28 M. avium complex and 8 M. abscessus complex species revealed that all were susceptible to macrolides (clarithromycin, azithromycin) and aminoglycosides (kanamycin, amikacin, and gentamicin). Our research signifies an important contribution to TB control in terms of knowledge of the types of mycobacterium species circulating and their drug resistance patterns in Ghana.
Sellami, Mohamed Hichem; Torjemane, Lamia; Espadas de Arias, Alejandro; Kaabi, Houda; Ladeb, Saloua; Ben Othman, Tarek; Poli, Francesca; Hmida, Slama
2010-01-01
Graft-versus-Host disease (GVHD) has been widely linked to immunogenetic causes such as disparity between the recipient and its HLA geno-identical donor for some Non-HLA antigens called minor histocompatibility antigens (MiHAgs). HA-2 is one of potential human MiHAgs but its effect on the GVHD occurrence remains not clear. In order to examine such association in the Tunisian cohort of HSCs recipients, we performed a retrospective study on patients who received an HLA-identical HSCT between 2000 and 2009. The study was performed on 60 HLA-A2-positive patients who had received a haematopoietic stem cell transplant from an HLA-identical sibling. All patients received cyclosporine A and/or methotrexate for GVHD prophylaxis. HA-2 genotyping assay was performed with SSP-PCR method and HLA-A*0201 positive samples were identified mainly with Luminex HLA-Typing method. Luminex HLA-Typing assay showed that only 53 cases were positives for the HLA-A*0201 allele. Among these cases, only 3 pairs were mismatched for the MiHAg HA-2. Acute GVHD occurred in 01 HA-2-mismatched pair while chronic GVHD was detected in 02 disparate couples. Univariate and multivariate analyses showed that MiHAg HA-2 disparity does not have any significant effect on the occurrence of either acute or chronic GVHD. This last one appeared to be correlated only with the age of patient (adulthood) (p: 0.011, OR: 22.092). Our findings support the previously reported data denying the influence of the HA-2 disparity on the GVHD occurrence after HSCT.
Mahfouz, Ragab A; Alzaiat, Ahmad; Yousry, Ahmad
2015-01-01
We hypothesized that many of the pathophysiological mechanisms that cause atherosclerotic disease may be present in early childhood in children with family history of type 2 diabetes. We aimed to investigate the relation of epicardial fat thickness (EFT) with flow-mediated dilatation (FMD) and diastolic function in children with family history of type 2 diabetes mellitus. We measured EFT, FMD, in 209 children (mean age 8.6 + 3.2 years). Children were classified into 2 groups: 109 children with a family history of type 2 diabetes (group at risk) and 100 healthy children with age and body mass index matched and without parental history of diabetes constituted the control group. Epicardial fat thickness was significantly increased in group at risk compared with control children (P < 0.001), while FMD was significantly lower in group at risk versus controls (P < 0.001). EFT was inversely correlated with FMD (r = -0.46; P < 0.001), while it was positively correlated with E/E' (r = 0.48; P < 0.001) and hsCRP (r = 0.39; P < 0.001). Receiver-operating characteristic curve analysis revealed a cutoff value of 5 mm for EFT can predict endothelial dysfunction in children with family history of DM area under the curve (AUC = 0.852) with a specificity of 92.2% and a sensitivity of 77.4%. Our results suggest that children with family history of type 2 diabetes bear considerably impaired FMD% and diastolic dysfunction associated with increased EFT, that reflecting process that promote the development of cardiovascular disease (CVD). © 2014, Wiley Periodicals, Inc.
Isomaa, B; Forsén, B; Lahti, K; Holmström, N; Wadén, J; Matintupa, O; Almgren, P; Eriksson, J G; Lyssenko, V; Taskinen, M-R; Tuomi, T; Groop, L C
2010-08-01
We studied the impact of a family history of type 2 diabetes on physical fitness, lifestyle factors and diabetes-related metabolic factors. The Prevalence, Prediction and Prevention of Diabetes (PPP)-Botnia study is a population-based study in Western Finland, which includes a random sample of 5,208 individuals aged 18 to 75 years identified through the national Finnish Population Registry. Physical activity, dietary habits and family history of type 2 diabetes were assessed by questionnaires and physical fitness by a validated 2 km walking test. Insulin secretion and action were assessed based upon OGTT measurements of insulin and glucose. A family history of type 2 diabetes was associated with a 2.4-fold risk of diabetes and lower physical fitness (maximal aerobic capacity 29.2 +/- 7.2 vs 32.1 +/- 7.0, p = 0.01) despite having similar reported physical activity to that of individuals with no family history. The same individuals also had reduced insulin secretion adjusted for insulin resistance, i.e. disposition index (p < 0.001) despite having higher BMI (27.4 +/- 4.6 vs 26.0 +/- 4.3 kg/m(2), p < 0.001). Individuals with a family history of type 2 diabetes are characterised by lower physical fitness, which cannot solely be explained by lower physical activity. They also have an impaired capacity of beta cells to compensate for an increase in insulin resistance imposed by an increase in BMI. These defects should be important targets for interventions aiming at preventing type 2 diabetes in individuals with inherited susceptibility to the disease.
González-Ortiz, Manuel; Balcázar-Muñoz, Blanca R; Mora-Martínez, José M; Martínez-Abundis, Esperanza
2004-09-01
The objective of this study was to evaluate the effect of a high fat or high carbohydrate breakfast on postprandial lipid profile in healthy subjects with or without family history of type 2 diabetes mellitus. A single blind, controlled clinical trial with parallel groups was performed in 20 healthy subjects; 10 subjects with family history of type 2 diabetes mellitus and 10 individuals without that background. Each group was randomized to receive a high fat or high carbohidrate breakfast. A metabolic profile that included fasting and postprandial lipids, as well as, the assessment of insulin sensitivity were performed. Lower high-lipoprotein cholesterol (p < 0.02) and apolipoprotein A1 (p < 0.03) concentrations were found in subjects with family history of type 2 diabetes mellitus than those without that background. In this same above mentioned group with the high carbohydrate breakfast, there were significant increments in apoliprotein B at minute 300 (p < 0.03) and in triglycerides at minute 360 (p < 0.03). In the group without family history of diabetes that received the high fat breakfast, there were increments in triglycerides (p < 0.03) and very-low density lipoprotein concentrations at minute 180 (p < 0.03). In conclusion, healthy subjects with family history of type 2 diabetes showed some atherogenic characteristics in their metabolic profile, and the high carbohydrate breakfast produced in them increments in apolipoprotein B and in triglycerides, meanwhile that, in those subjects without such background the high fast breakfast produced unfavorable effects on their lipid concentrations.
[Analysis of USH2A gene mutation in a Chinese family affected with Usher syndrome].
Li, Pengcheng; Liu, Fei; Zhang, Mingchang; Wang, Qiufen; Liu, Mugen
2015-08-01
To investigate the disease-causing mutation in a Chinese family affected with Usher syndrome type II. All of the 11 members from the family underwent comprehensive ophthalmologic examination and hearing test, and their genomic DNA were isolated from venous leukocytes. PCR and direct sequencing of USH2A gene were performed for the proband. Wild type and mutant type minigene vectors containing exon 42, intron 42 and exon 43 of the USH2A gene were constructed and transfected into Hela cells by lipofectamine reagent. Reverse transcription (RT)-PCR was carried out to verify the splicing of the minigenes. Pedigree analysis and clinical diagnosis indicated that the patients have suffered from autosomal recessive Usher syndrome type II. DNA sequencing has detected a homozygous c.8559-2A>G mutation of the USH2A gene in the proband, which has co-segregated with the disease in the family. The mutation has affected a conserved splice site in intron 42, which has led to inactivation of the splice site. Minigene experiment has confirmed the retaining of intron 42 in mature mRNA. The c.8559-2A>G mutation in the USH2A gene probably underlies the Usher syndrome type II in this family. The splice site mutation has resulted in abnormal splicing of USH2A pre-mRNA.
Hektor - an exceptional D-type family among Jovian Trojans
NASA Astrophysics Data System (ADS)
Rozehnal, J.; Brož, M.; Nesvorný, D.; Durda, D. D.; Walsh, K.; Richardson, D. C.; Asphaug, E.
2016-11-01
In this work, we analyse Jovian Trojans in the space of suitable resonant elements and we identify clusters of possible collisional origin by two independent methods: the hierarchical clustering and a so-called randombox. Compared to our previous work, we study a twice larger sample. Apart from Eurybates, Ennomos and 1996 RJ families, we have found three more clusters - namely families around asteroids (20961) Arkesilaos, (624) Hektor in the L4 libration zone and (247341) 2001 UV209 in L5. The families fulfill our stringent criteria, I.e. a high statistical significance, an albedo homogeneity and a steeper size-frequency distribution than that of background. In order to understand their nature, we simulate their long term collisional evolution with the Boulder code and dynamical evolution using a modified SWIFT integrator. Within the framework of our evolutionary model, we were able to constrain the age of the Hektor family to be either 1-4 Gyr or, less likely, 0.1-2.5 Gyr, depending on initial impact geometry. Since (624) Hektor itself seems to be a bilobed-shape body with a satellite, I.e. an exceptional object, we address its association with the D-type family and we demonstrate that the moon and family could be created during a single impact event. We simulated the cratering event using a smoothed particle hydrodynamics. This is also the first case of a family associated with a D-type parent body.
Review of oil families and their petroleum systems of the Williston Basin
Lillis, Paul G.
2013-01-01
Oil bulk properties such as API gravity, sulfur content, and pour point are much underutilized in the recent geochemical literature and are found to be useful here in differentiating oil families. The Red River petroleum system has two oil families that can be differentiated based on pour point. The oils in the Madison petroleum system can be divided into two families based on API gravity-sulfur content relationships, with one family derived from Type II-S kerogen and the other family derived from Type II kerogen with medium sulfur content. The Tyler petroleum system of the Williston Basin may be distinguished from the Heath-Tyler petroleum system in central Montana based on differences in geology and petroleum geochemistry, with Tyler petroleum system oils having a higher pour point and lower sulfur content.
Do people really know what makes a family history of cancer?
Lim, Jennifer N W; Hewison, Jenny
2014-12-01
Family history is often referred to as a family tree in casual everyday conservations, but it carries a different connotation in medicine. This study is the first to investigate people's understanding of 'family medical history' and the concept of 'family' in the context of inherited cancer. Three hundred and nine staff at the Faculty of Medicine and Health, University of Leeds completed an online web survey. Not all respondents understood or knew what makes a family history of cancer. Only 54% knew exactly the type of information required to make a family history. Apart from blood relatives, adopted and step-siblings, step parents, in-laws, spouses, friends and colleagues were also named as 'family' for family history taking. Personal experience of living with cancer and academic qualification were not significant in influencing knowledge of family history. There is misunderstanding and poor knowledge of family history of cancer and the type of information required to make a family history even in a sample of people teaching and researching medicine and health issues. Public understanding of the value of family medical history in cancer prevention and management is important if informed clinical decisions and appropriate health care are to be delivered. © 2012 John Wiley & Sons Ltd.
DNA sequence transfer between two high-cysteine chorion gene families in the silkmoth Bombyx mori.
Iatrou, K; Tsitilou, S G; Kafatos, F C
1984-01-01
We have previously shown that one type of high-cysteine silkmoth chorion protein (Hc-A) has evolved from the A family of chorion proteins by radical modifications of the NH2-terminal and COOH-terminal polypeptide arms: most of the arm sequences have been deleted, while short cysteine- and glycine-containing repeats have expanded into long arrays. Strikingly similar modifications of the arms have led to the evolution of a second type of high-cysteine protein (Hc-B) from the B family of chorion proteins. It appears that the parallel evolution of these high-cysteine-encoding gene families has not been entirely independent: examination of 3' untranslated regions shows evidence of information transfer between the two families. PMID:6589605
Talking (or Not) about Family Health History in Families of Latino Young Adults
ERIC Educational Resources Information Center
Corona, Rosalie; Rodríguez, Vivian; Quillin, John; Gyure, Maria; Bodurtha, Joann
2013-01-01
Although individuals recognize the importance of knowing their family's health history for their own health, relatively few people (e.g., less than a third in one national survey) collect this type of information. This study examines the rates of family communication about family health history of cancer, and predictors of communication in a…
Impact of Family Recovery on Pre-Teens and Adolescents
ERIC Educational Resources Information Center
Lewis, Virginia; Allen-Byrd, Lois
2006-01-01
Beginning with an introduction to the concept of family recovery, this article explores its stages and three distinct types of families in recovery. The primary focus, however, is the impact family recovery has on pre-teens and adolescents who are the "forgotten" family members in this radical and traumatic long-term process. (Contains 2 tables.)
Family Conflict and Children's Self-Concepts: A Comparison of Intact and Single-Parent Families.
ERIC Educational Resources Information Center
Raschke, Helen J.; Raschke, Vernon J.
1979-01-01
Using the Piers-Harris Children's Self-Concept Scale to measure self-concept, and self-reports for family structure and family conflict, no significant differences in self-concept scores of children from intact, single-parent, reconstituted, or other types of families were found. Self-concept scores were significantly lower for children reporting…
Gender-Specific Perceptions of Four Dimensions of the Work/Family Interaction
ERIC Educational Resources Information Center
Innstrand, Siw Tone; Langballe, Ellen Melbye; Falkum, Erik; Espnes, Geir Arild; Aasland, Olaf Gjerlow
2009-01-01
The aim of this study was twofold. The first intention was to examine the factorial validity of a work/family interaction in terms of the direction of influence (work-to-family vs. family-to-work) and type of effect (conflict vs. facilitation). Second, gender differences along these four dimensions of work/family interaction were explored. Data…
Ayuso, C; Garcia-Sandoval, B; Najera, C; Valverde, D; Carballo, M; Antiñolo, G
1995-09-01
Retinitis pigmentosa is a term commonly given to a group of inherited and progressive disorders which affect the photoreceptors of the retina. As part of an ongoing research programme throughout Spain, clinical, epidemiological, and genetic studies have been carried out on these diseases. Here, we report the relative frequencies of the different genetic types in 503 non-syndromic and 89 syndromic RP families of Spanish origin. The most frequent syndromic RP forms were Usher syndrome type 1 (20/89 families = 30%) and Usher syndrome type 2 (44 families = 49%). Among non-syndromic RP forms, 12% were autosomal dominant, 39% autosomal recessive and 4% X-linked. Forty-one percent were isolated or simplex cases and in 4% the genetic type could not be established.
Xian, W; Zheng, H; Wu, W J
2015-07-13
We conducted a case-control study in a Chinese population to assess whether 5 common single-nucleotide polymorphisms in the vascular endothelial growth factor gene (VEGF) affect the risk of renal cell carcinoma (RCC). The study population included 266 RCC patients who were newly diagnosed and histologically confirmed to have RCC as well as 532 cancer-free controls. Genotyping of VEGF -2578C/A, -1156G/A, +1612G/A, +936C/T, and -634G/C was conducted by polymerase chain reaction-restriction fragment length polymorphism. RCC patients were more likely to have higher body mass index, and have a habit of tobacco smoking as well as suffer from diabetes. Conditional logistic regression analyses showed that individuals with the AA genotype and A allele of -2578C/A significantly increased the risk of RCC when compared with the CC genotype. Individuals carrying the CT and TT geno-types of +936C/T were correlated with an increased risk of RCC compared to the CC genotype. The T allele of +936C/T was associated with an increased risk of RCC. The -2578C/A and +936C/T polymorphisms in the VEGF gene may play a role in the etiology of RCC.
IRF4 Variants Have Age-Specific Effects on Nevus Count and Predispose to Melanoma
Duffy, David L.; Iles, Mark M.; Glass, Dan; Zhu, Gu; Barrett, Jennifer H.; Höiom, Veronica; Zhao, Zhen Z.; Sturm, Richard A.; Soranzo, Nicole; Hammond, Chris; Kvaskoff, Marina; Whiteman, David C.; Mangino, Massimo; Hansson, Johan; Newton-Bishop, Julia A.; Bataille, Veronique; Hayward, Nicholas K.; Martin, Nicholas G.; Bishop, D. Timothy; Spector, Timothy D.; Montgomery, Grant W.
2010-01-01
High melanocytic nevus count is a strong predictor of melanoma risk. A GWAS of nevus count in Australian adolescent twins identified an association of nevus count with the interferon regulatory factor 4 gene (IRF4 [p = 6 × 10−9]). There was a strong genotype-by-age interaction, which was replicated in independent UK samples of adolescents and adults. The rs12203592∗T allele was associated with high nevus counts and high freckling scores in adolescents, but with low nevus counts and high freckling scores in adults. The rs12203592∗T increased counts of flat (compound and junctional) nevi in Australian adolescent twins, but decreased counts of raised (intradermal) nevi. In combined analysis of melanoma case-control data from Australia, the UK, and Sweden, the rs12203592∗C allele was associated with melanoma (odds ratio [OR] 1.15, p = 4 × 10−3), most significantly on the trunk (OR = 1.33, p = 2.5 × 10−5). The melanoma association was corroborated in a GWAS performed by the GenoMEL consortium for an adjacent SNP, rs872071 (rs872071∗T: OR 1.14, p = 0.0035; excluding Australian, the UK, and Swedish samples typed at rs12203592: OR 1.08, p = 0.08). PMID:20602913
Molecular epidemiology of mumps virus in Japan and proposal of two new genotypes.
Inou, Yoko; Nakayama, Tetsuo; Yoshida, Naoko; Uejima, Hajime; Yuri, Kenji; Kamada, Makoto; Kumagai, Takuji; Sakiyama, Hiroshi; Miyata, Akiko; Ochiai, Hitoshi; Ihara, Toshiaki; Okafuji, Teruo; Okafuji, Takao; Nagai, Takao; Suzuki, Eitaro; Shimomura, Kunihisa; Ito, Yuhei; Miyazaki, Chiaki
2004-05-01
We isolated 872 strains of mumps virus from naso-pharyngeal secretions in seven different districts of Japan from January 2000 to July 2001. Among them, 57 strains were geno-typed by nucleotide sequencing in part of the hemagglutinin-neuraminidase (HN) and small hydrophobic (SH) protein regions. Four different genotypes (B, G, K, and L) of mumps virus were co-circulating in Japan and the distribution of genotypes varied in geographically different districts. Two new clusters designated as genotypes K and L had more than 7% nucleotide variation in the SH gene. Among the 57 strains, 11 were classified as B, 35 as G, three as K, and eight as L, which was mainly isolated in Tokyo. We also examined 104 stains isolated in a clinic in Mie prefecture from 1993 to 2003. Genotype B was the indigenous strain and genotype K was introduced in 1994. Genotypes B and K co-circulated in the 1990s and were replaced by genotype G in 2000. There was no significant change in neutralizing test antibody titers against genotypes B, G, K, and L using seven post-vaccination sera with Hoshino strain (genotype B) and these four genotypes had a different antigenicity from genotype A. We should continue to watch on mumps virus molecular epidemiology. Copyright 2004 Wiley-Liss, Inc.
Diagnostic accuracy of a uniform research case definition for TBM in children: a prospective study.
Solomons, R S; Visser, D H; Marais, B J; Schoeman, J F; van Furth, A M
2016-07-01
Bacteriological confirmation of tuberculous meningitis (TBM) is problematic, and rarely guides initial clinical management. A uniform TBM case definition has been proposed for research purposes. We prospectively enrolled patients aged 3 months to 13 years with meningitis confirmed using cerebrospinal fluid analysis at Tygerberg Hospital, Cape Town, South Africa. Criteria that differentiated TBM from other causes were explored and the accuracy of a probable TBM score assessed by comparing bacteriologically confirmed cases to 'non-TBM' controls. Of 139 meningitis patients, 79 were diagnosed with TBM (35 bacteriologically confirmed), 10 with bacterial meningitis and 50 with viral meningitis. Among those with bacteriologically confirmed TBM, 15 were Mycobacterium tuberculosis culture-positive and 20 were culture-negative but positive on GenoType(®) MTBDRplus or Xpert(®) MTB/RIF; 18 were positive on only a single commercial nucleic acid amplification test. A probable TBM score provided a sensitivity of 74% (95%CI 57-88) and a specificity of 97% (95%CI 86-99) compared to bacteriologically confirmed TBM. A probable TBM score demonstrated excellent specificity compared to bacteriological confirmation. However, 26% of children with TBM would be missed due to the limited accuracy of the case definition. Further prospective testing of an algorithm-based approach to TBM is advisable before recommendation for general clinical practice.
Van Bogaert, Inge N A; Sabirova, Julia; Develter, Dirk; Soetaert, Wim; Vandamme, Erick J
2009-06-01
The nonpathogenic yeast Candida bombicola synthesizes sophorolipids. These biosurfactants are composed of the disaccharide sophorose linked to a long-chain hydroxy fatty acid and have potential applications in the food, pharmaceutical, cosmetic and cleaning industries. In order to expand the range of application, a shift of the fatty acid moiety towards medium-chain lengths would be recommendable. However, the synthesis of medium-chain sophorolipids by C. bombicola is a challenging objective. First of all, these sophorolipids can only be obtained by fermentations on unconventional carbon sources, which often have a toxic effect on the cells. Furthermore, medium-chain substrates are partially metabolized in the beta-oxidation pathway. In order to redirect unconventional substrates towards sophorolipid synthesis, the beta-oxidation pathway was blocked on the genome level by knocking out the multifunctional enzyme type 2 (MFE-2) gene. The total gene sequence of the C. bombicola MFE-2 (6033 bp) was cloned (GenBank accession number EU371724), and the obtained nucleotide sequence was used to construct a knock-out cassette. Several knock-out mutants with the correct geno- and phenotype were evaluated in a fermentation on 1-dodecanol. All mutants showed a 1.7-2.9 times higher production of sophorolipids, indicating that in those strains the substrate is redirected towards the sophorolipid synthesis.
Lin, Yanping; Wang, Kangyu; Li, Xiangyu; Sun, Chunyu; Yin, Rui; Wang, Yanfang; Wang, Yi; Zhang, Meiping
2018-02-21
Most genes in a genome exist in the form of a gene family; therefore, it is necessary to have knowledge of how a gene family functions to comprehensively understand organismal biology. The receptor-like kinase (RLK)-encoding gene family is one of the most important gene families in plants. It plays important roles in biotic and abiotic stress tolerances, and growth and development. However, little is known about the functional differentiation and relationships among the gene members within a gene family in plants. This study has isolated 563 RLK genes (designated as PgRLK genes) expressed in Jilin ginseng (Panax ginseng C.A. Meyer), investigated their evolution, and deciphered their functional diversification and relationships. The PgRLK gene family is highly diverged and formed into eight types. The LRR type is the earliest and most prevalent, while only the Lec type originated after P. ginseng evolved. Furthermore, although the members of the PgRLK gene family all encode receptor-like protein kinases and share conservative domains, they are functionally very diverse, participating in numerous biological processes. The expressions of different members of the PgRLK gene family are extremely variable within a tissue, at a developmental stage and in the same cultivar, but most of the genes tend to express correlatively, forming a co-expression network. These results not only provide a deeper and comprehensive understanding of the evolution, functional differentiation and correlation of a gene family in plants, but also an RLK genic resource useful for enhanced ginseng genetic improvement.
Space weathering of small Koronis family members
NASA Astrophysics Data System (ADS)
Thomas, Cristina A.; Rivkin, Andrew S.; Trilling, David E.; Enga, Marie-therese; Grier, Jennifer A.
2011-03-01
The space weathering process and its implications for the relationships between S- and Q-type asteroids and ordinary chondrite meteorites is an often debated topic in asteroid science. Q-type asteroids have been shown to display the best spectral match to ordinary chondrites (McFadden, L.A., Gaffey, M.J., McCord, T.B. [1985]. Science 229, 160-163). While the Q-types and ordinary chondrites share some spectral features with S-type asteroids, the S-types have significantly redder spectral slopes than the Q-types in visible and near-infrared wavelengths. This reddening of spectral slope is attributed to the effects of space weathering on the observed surface composition. The analysis by Binzel et al. (Binzel, R.P., Rivkin, A.S., Stuart, J.S., Harris, A.W., Bus, S.J., Burbine, T.H. [2004]. Icarus 170, 259-294) provided a missing link between the Q- and S-type bodies in near-Earth space by showing a reddening of spectral slope in objects from 0.1 to 5 km that corresponded to a transition from Q-type to S-type asteroid spectra, implying that size, and therefore surface age, is related to the relationship between S- and Q-types. The existence of Q-type asteroids in the main-belt was not confirmed until Mothé-Diniz and Nesvorny (Mothé-Diniz, T., Nesvorny, D. [2008]. Astron. Astrophys. 486, L9-L12) found them in young S-type clusters. The young age of these families suggest that the unweathered surface could date to the formation of the family. This leads to the question of whether older S-type main-belt families can contain Q-type objects and display evidence of a transition from Q- to S-type. To answer this question we have carried out a photometric survey of the Koronis family using the Kitt Peak 2.1 m telescope. This provides a unique opportunity to compare the effects of the space weathering process on potentially ordinary chondrite-like bodies within a population of identical initial conditions. We find a trend in spectral slope for objects 1-5 km that shows the transition from Q- to S-type in the main-belt. This data set will prove crucial to our understanding of the space weathering process and its relevant timescales.
YopJ Family Effectors Promote Bacterial Infection through a Unique Acetyltransferase Activity.
Ma, Ka-Wai; Ma, Wenbo
2016-12-01
Gram-negative bacterial pathogens rely on the type III secretion system to inject virulence proteins into host cells. These type III secreted "effector" proteins directly manipulate cellular processes to cause disease. Although the effector repertoires in different bacterial species are highly variable, the Yersinia outer protein J (YopJ) effector family is unique in that its members are produced by diverse animal and plant pathogens as well as a nonpathogenic microsymbiont. All YopJ family effectors share a conserved catalytic triad that is identical to that of the C55 family of cysteine proteases. However, an accumulating body of evidence demonstrates that many YopJ effectors modify their target proteins in hosts by acetylating specific serine, threonine, and/or lysine residues. This unique acetyltransferase activity allows the YopJ family effectors to affect the function and/or stability of their targets, thereby dampening innate immunity. Here, we summarize the current understanding of this prevalent and evolutionarily conserved type III effector family by describing their enzymatic activities and virulence functions in animals and plants. In particular, the molecular mechanisms by which representative YopJ family effectors subvert host immunity through posttranslational modification of their target proteins are discussed. Copyright © 2016, American Society for Microbiology. All Rights Reserved.
Counseling Patients with Senile Dementia of the Alzheimer Type and Their Families.
ERIC Educational Resources Information Center
LaBarge, Emily
1981-01-01
Discusses symptoms of Alzheimer Disease and suggests client-centered counseling techniques to use with patients and family. Considers the disease's effect on family relationships relative to stage of family development. Examines the adjustment of the caregiving spouse. Offers practical suggestions for coping. (RC)
Work-Family Balance: Perspectives from Higher Education
ERIC Educational Resources Information Center
Pillay, Soma; Abhayawansa, Subhash
2014-01-01
The article examines different types of work-family pressures amongst people working within the Australian university sector. We were specifically interested in work-family experiences between domestic and migrant Australians. Among the major findings, domestic Australians experience greater levels of work-family imbalance across most of the…
The Stigma of Families with Mental Illness
ERIC Educational Resources Information Center
Larson, Jon E.; Corrigan, Patrick
2008-01-01
Objective: This article describes family stigma, which is defined as the prejudice and discrimination experienced by individuals through associations with their relatives. Methods: The authors describe family stigma and present current research related to mental illness stigma experienced by family members. Research indicates this type of stigma…
Influence of Family Structure on Health among Youths with Diabetes.
ERIC Educational Resources Information Center
Thompson, Sanna J.; Auslander, Wendy F.; White, Neil H.
2001-01-01
Discusses the extent to which family structure is significantly associated with health in youth with Type 1 diabetes. Multiple regression analyses demonstrated that family structure remains a significant predictor of youth's health when statistically controlling for race, child's age, family socioeconomic status, and adherence. (BF)
Use of relational agents to improve family communication in type 1 diabetes: Methods
USDA-ARS?s Scientific Manuscript database
Physiological and environmental risk factors interact to undermine blood glucose control during early adolescence. This has been documented to be associated with family conflict and poor adherence to diabetes management tasks. Family Teamwork is an efficacious program demonstrated to enhance family ...
NASA Astrophysics Data System (ADS)
Lucas, Michael P.; Emery, Joshua; Pinilla-Alonso, Noemi; Lindsay, Sean S.; MacLennan, Eric M.; Cartwright, Richard; Reddy, Vishnu; Sanchez, Juan A.; Thomas, Cristina A.; Lorenzi, Vania
2017-10-01
Spectral observations of asteroid family members provide valuable information regarding parent body interiors, the source regions of near-Earth asteroids, and the link between meteorites and their parent bodies. Hungaria family asteroids constitute the closest samples to the Earth from a collisional family (~1.94 AU), permitting observations of smaller fragments than accessible for Main Belt families. We have carried out a ground-based observational campaign - Hungaria Asteroid Region Telescopic Spectral Survey (HARTSS) - to record reflectance spectra of these preserved samples from the inner-most primordial asteroid belt. During HARTSS phase one (Lucas et al. [2017]. Icarus 291, 268-287) we found that ~80% of the background population is comprised of stony S-complex asteroids that exhibit considerable spectral and mineralogical diversity. In HARTSS phase two, we turn our attention to family members and hypothesize that the Hungaria collisional family is homogeneous. We test this hypothesis through taxonomic classification, albedo estimates, and spectral properties.During phase two of HARTSS we acquired near-infrared (NIR) spectra of 50 new Hungarias (19 family; 31 background) with SpeX/IRTF and NICS/TNG. We analyzed X-type family spectra for NIR color indices (0.85-J J-K), and a subtle ~0.9 µm absorption feature that may be attributed to Fe-poor orthopyroxene. Surviving fragments of an asteroid collisional family typically exhibit similar taxonomies, albedos, and spectral properties. Spectral analysis of X-type Hungaria family members and independently calculated WISE albedo determinations for 428 Hungaria asteroids is consistent with this scenario. Furthermore, ~1/4 of the background population exhibit similar spectral properties and albedos to family X-types.Spectral observations of 92 Hungaria region asteroids acquired during both phases of HARTSS uncover a compositionally heterogeneous background and spectral homogeneity down to ~2 km for collisional family members. Taxonomy, albedos, and spectral properties reveal that the Hungaria family progenitor was an igneous body that formed under reduced conditions, and was compositionally consistent with the enstatite achondrite (i.e., aubrite) meteorite group.
On boundary fusion and functional relations in the Baxterized affine Hecke algebra
DOE Office of Scientific and Technical Information (OSTI.GOV)
Babichenko, A., E-mail: babichen@weizmann.ac.il; Regelskis, V., E-mail: v.regelskis@surrey.ac.uk
2014-04-15
We construct boundary type operators satisfying fused reflection equation for arbitrary representations of the Baxterized affine Hecke algebra. These operators are analogues of the fused reflection matrices in solvable half-line spin chain models. We show that these operators lead to a family of commuting transfer matrices of Sklyanin type. We derive fusion type functional relations for these operators for two families of representations.
Social Networks and Health Among Older Adults in Lebanon: The Mediating Role of Support and Trust
Antonucci, Toni C.; Ajrouch, Kristine J.; Abdulrahim, Sawsan
2015-01-01
Objectives. Despite a growing body of literature documenting the influence of social networks on health, less is known in other parts of the world. The current study investigates this link by clustering characteristics of network members nominated by older adults in Lebanon. We then identify the degree to which various types of people exist within the networks. This study further examines how network composition as measured by the proportion of each type (i.e., type proportions) is related to health; and the mediating role of positive support and trust in this process. Method. Data are from the Family Ties and Aging Study (2009). Respondents aged ≥60 were selected (N = 195) for analysis. Results. Three types of people within the networks were identified: Geographically Distant Male Youth, Geographically Close/Emotionally Distant Family, and Close Family. Having more Geographically Distant Male Youth in one’s network was associated with health limitations, whereas more Close Family was associated with no health limitations. Positive support mediated the link between type proportions and health limitations, whereas trust mediated the link between type proportions and depressive symptoms. Discussion. Results document links between the social networks and health of older adults in Lebanon within the context of ongoing demographic transitions. PMID:25324295
Oliveira, Sofia A.; Park, Se-Ho; Lee, Peter; Bendelac, Albert; Shenk, Thomas E.
2002-01-01
The murine cytomegalovirus m02 gene family encodes putative type I membrane glycoproteins named m02 through m16. A subset of these genes were fused to an epitope tag and cloned into an expression vector. In transfected and murine cytomegalovirus-infected cells, m02, m04, m05, m06, m07, m09, m10, and m12 localized to cytoplasmic structures near the nucleus, whereas m08 and m13 localized to a filamentous structure surrounding the nucleus. Substitution mutants lacking the m02 gene (SMsubm02) or the entire m02 gene family (SMsubm02-16) grew like their wild-type parent in cultured cells. However, whereas SMsubm02 was as pathogenic as the wild-type virus, SMsubm02-16 was markedly less virulent. SMsubm02-16 produced less infectious virus in most organs compared to wild-type virus in BALB/c and C57BL/6J mice, but it replicated to wild-type levels in the organs of immunodeficient γc/Rag2 mice, lacking multiple cell types including natural killer cells, and in C57BL/6J mice depleted of natural killer cells. These results argue that one or more members of the m02 gene family antagonize natural killer cell-mediated immune surveillance. PMID:11752177
Concept analysis of family homeostasis.
Kim, Heejung; Rose, Karen M
2014-11-01
To report a concept analysis of family homeostasis. As family members are a majority of informal caregivers, negative consequences from caregiving duty create a vicious cycle in the family unit resulting in ongoing health crises and care challenges. Concept analysis. Forty empirical studies published from 1956-2012 were selected by searching five electronic bibliographical databases and by a manual search conducted from 2012-2013. Search terms included 'family homeostasis', 'homeostasis in family', 'homeostatic care' and 'family equilibrium'. Clinical experiences in nursing practice were used for constructing cases and clinical implications. Walker and Avant's method guided this analysis. Family homeostasis is defined as the capacity and mechanisms by which equilibrium is re-established in the family after a change occurs. Five critical attributes are identified: (1) predetermined setpoint; (2) self-appraised antecedents; (3) interdependence; (4) tendency to stability; and (5) feedback mechanisms. Antecedents include any type of causative change beyond the tolerable limit, while consequences encompass intermediate and long-term outcomes as well as equilibrium itself. Family homeostasis provides a conceptual rationale of family caregiving. While care recipients remain the primary beneficiaries of healthcare provision, homeostatic mechanisms are required to support the family caregiver's valuable contribution in the caring process to enhance family well-being. Further study should expand the definition and settings of family to reflect healthcare needs of diverse types of families and from the perspectives of different healthcare providers. © 2014 John Wiley & Sons Ltd.
SCF(KMD) controls cytokinin signaling by regulating the degradation of type-B response regulators.
Kim, Hyo Jung; Chiang, Yi-Hsuan; Kieber, Joseph J; Schaller, G Eric
2013-06-11
Cytokinins are plant hormones that play critical roles in growth and development. In Arabidopsis, the transcriptional response to cytokinin is regulated by action of type-B Arabidopsis response regulators (ARRs). Although central elements in the cytokinin signal transduction pathway have been identified, mechanisms controlling output remain to be elucidated. Here we demonstrate that a family of F-box proteins, called the kiss me deadly (KMD) family, targets type-B ARR proteins for degradation. KMD proteins form an S-phase kinase-associated PROTEIN1 (SKP1)/Cullin/F-box protein (SCF) E3 ubiquitin ligase complex and directly interact with type-B ARR proteins. Loss-of-function KMD mutants stabilize type-B ARRs and exhibit an enhanced cytokinin response. In contrast, plants with elevated KMD expression destabilize type-B ARR proteins leading to cytokinin insensitivity. Our results support a model in which an SCF(KMD) complex negatively regulates cytokinin responses by controlling levels of a key family of transcription factors.
ERIC Educational Resources Information Center
Beres, Barbara Oliver; Frumkin, Robert M.
1973-01-01
A study of 65 male schizophrenic patients at the Bureau of Vocational Rehabilitation Unit, Cleveland Psychiatric Institute, Cleveland, Ohio revealed that family type (conjugal settings, parental settings, living alone) is found to to be a valuable prognosticator of rehabilitation outcome among post-hospitalized schizophrenics. (EA)
Design of a family-based lifestyle intervention for youth with type 2 diabetes: the TODAY study
2009-01-01
Type 2 diabetes is associated with obesity and is increasing at an alarming rate in youth. Although weight loss through lifestyle change is one of the primary treatment recommendations for adults with type 2 diabetes, the efficacy of this approach has not been tested with youth. This paper provides a summary of the reviews and meta-analyses of pediatric weight-loss interventions that informed the design and implementation of an intensive, family-based lifestyle weight management program for adolescents with type 2 diabetes and their families developed for the Treatment Options for type 2 Diabetes in Adolescents and Youth (TODAY) study. A total of 1092 youth have been screened, and 704 families have been randomized for inclusion in this 15-center clinical trial sponsored by the National Institutes of Health. The TODAY study is designed to test three approaches (metformin, metformin plus rosiglitazone and metformin plus an intensive lifestyle intervention) to the treatment of a diverse cohort of youth, 10–17 years of age, within 2 years of their diagnosis. The principal goal of the TODAY Lifestyle Program (TLP) is to decrease baseline weight of youth by 7–10% (or the equivalent for children who are growing in height) through changes in eating and physical activity habits, and to sustain these changes through ongoing treatment contact. The TLP is implemented by interventionists called Personal Activity and Nutrition Leaders (PALs) and delivered to youth with type 2 diabetes, and at least one family support person. The TLP provides a model for taking a comprehensive, continuous care approach to the treatment of severe overweight in youth with comorbid medical conditions such as type 2 diabetes. PMID:19823189
Borecky, Jirí; Nogueira, Fábio T S; de Oliveira, Kívia A P; Maia, Ivan G; Vercesi, Aníbal E; Arruda, Paulo
2006-01-01
The simultaneous existence of alternative oxidases and uncoupling proteins in plants has raised the question as to why plants need two energy-dissipating systems with apparently similar physiological functions. A probably complete plant uncoupling protein gene family is described and the expression profiles of this family compared with the multigene family of alternative oxidases in Arabidopsis thaliana and sugarcane (Saccharum sp.) employed as dicot and monocot models, respectively. In total, six uncoupling protein genes, AtPUMP1-6, were recognized within the Arabidopsis genome and five (SsPUMP1-5) in a sugarcane EST database. The recombinant AtPUMP5 protein displayed similar biochemical properties as AtPUMP1. Sugarcane possessed four Arabidopsis AOx1-type orthologues (SsAOx1a-1d); no sugarcane orthologue corresponding to Arabidopsis AOx2-type genes was identified. Phylogenetic and expression analyses suggested that AtAOx1d does not belong to the AOx1-type family but forms a new (AOx3-type) family. Tissue-enriched expression profiling revealed that uncoupling protein genes were expressed more ubiquitously than the alternative oxidase genes. Distinct expression patterns among gene family members were observed between monocots and dicots and during chilling stress. These findings suggest that the members of each energy-dissipating system are subject to different cell or tissue/organ transcriptional regulation. As a result, plants may respond more flexibly to adverse biotic and abiotic conditions, in which oxidative stress is involved.
Sakurai, Masaru; Nakamura, Koshi; Miura, Katsuyuki; Takamura, Toshinari; Yoshita, Katsushi; Sasaki, Satoshi; Nagasawa, Shin-Ya; Morikawa, Yuko; Ishizaki, Masao; Kido, Teruhiko; Naruse, Yuchi; Suwazono, Yasushi; Nakagawa, Hideaki
2013-05-06
This cohort study of middle-aged Japanese participants investigated the relationship between family history of diabetes, the incident risk of type 2 diabetes and the interaction of these variables with other factors. Study participants were 3,517 employees (2,037 men and 1,480 women) of a metal products factory in Japan. Baseline health examinations included questions about medical history, physical examination, anthropometric measurements, questions about lifestyle factors, such as smoking, alcohol consumption and habitual exercise, and a self-administered diet history questionnaire. Family history of diabetes was defined as having at least one-first-degree relative with diabetes. The incidence of diabetes was determined in annual medical examinations over a 7-year period. Hazard ratios (HRs) for type 2 diabetes were estimated by Cox proportional hazards analysis. Of the 3,517 participants, 630 (18%) had a family history of diabetes mellitus. During the study, 228 participants developed diabetes. The age and sex-adjusted HR for type 2 diabetes in participants with a family history of diabetes was 1.82 (95% confidence interval 1.36-2.43) as compared with those without a family history of diabetes. HRs did not change after adjustment for body mass index and lifestyle factors. We found no interactions with body mass index, insulin resistance, pancreatic β-cell function or lifestyle factors. Family history of diabetes was associated with the incident risk of diabetes, and these associations were independent of other risk factors, such as obesity, insulin resistance, and lifestyle factors in Japanese men and women.
Giusti, Francesca; Cianferotti, Luisella; Boaretto, Francesca; Cetani, Filomena; Cioppi, Federica; Colao, Annamaria; Davì, Maria Vittoria; Faggiano, Antongiulio; Fanciulli, Giuseppe; Ferolla, Piero; Ferone, Diego; Fossi, Caterina; Giudici, Francesco; Gronchi, Giorgio; Loli, Paola; Mantero, Franco; Marcocci, Claudio; Marini, Francesca; Masi, Laura; Opocher, Giuseppe; Beck-Peccoz, Paolo; Persani, Luca; Scillitani, Alfredo; Sciortino, Giovanna; Spada, Anna; Tomassetti, Paola; Tonelli, Francesco; Brandi, Maria Luisa
2017-11-01
The aim of this study was to integrate European epidemiological data on patients with multiple endocrine neoplasia type 1 by creating an Italian registry of this syndrome, including clinical and genetic characteristics and therapeutic management. Clinical, familial and genetic data of patients with multiple endocrine neoplasia type 1, diagnosed, treated, and followed-up for a mean time of 11.3 years, in 14 Italian referral endocrinological centers, were collected, over a 3-year course (2011-2013), to build a national electronic database. The Italian multiple endocrine neoplasia type 1 database includes 475 patients (271 women and 204 men), of whom 383 patients (80.6%) were classified as familial cases (from 136 different pedigrees), and 92 (19.4%) patients were sporadic cases. A MEN1 mutation was identified in 92.6% of familial cases and in 48.9% of sporadic cases. Four hundred thirty-six patients were symptomatic, presenting primary hyperparathyroidism, gastroenteropancreatic neuroendocrine tumors and pituitary tumors in 93, 53, and 41% of cases, respectively. Thirty-nine subjects, belonging to affected pedigrees positive for a MEN1 mutation, were asymptomatic at clinical and biochemical screening. Age at diagnosis of multiple endocrine neoplasia type 1 probands was similar for both familial and simplex cases (mean age 47.2 ± 15.3 years). In familial cases, diagnosis of multiple endocrine neoplasia type 1 in relatives of affected probands was made more than 10 years in advance (mean age at diagnosis 36.5 ± 17.6 years). The analysis of Italian registry of multiple endocrine neoplasia type 1 patients revealed that clinical features of Italian multiple endocrine neoplasia type 1 patients are similar to those of other western countries, and confirmed that the genetic test allowed multiple endocrine neoplasia type 1 diagnosis 10 years earlier than biochemical or clinical diagnosis.
2012-01-01
Background The Batrachoididae family is a group of marine teleosts that includes several species with more complicated physiological characteristics, such as their excretory, reproductive, cardiovascular and respiratory systems. Previous studies of the 5S rDNA gene family carried out in four species from the Western Atlantic showed two types of this gene in two species but only one in the other two, under processes of concerted evolution and birth-and-death evolution with purifying selection. Here we present results of the 5S rDNA and another two gene families in Halobatrachus didactylus, an Eastern Atlantic species, and draw evolutionary inferences regarding the gene families. In addition we have also mapped the genes on the chromosomes by two-colour fluorescence in situ hybridization (FISH). Results Two types of 5S rDNA were observed, named type α and type β. Molecular analysis of the 5S rDNA indicates that H. didactylus does not share the non-transcribed spacer (NTS) sequences with four other species of the family; therefore, it must have evolved in isolation. Amplification with the type β specific primers amplified a specific band in 9 specimens of H. didactylus and two of Sparus aurata. Both types showed regulatory regions and a secondary structure which mark them as functional genes. However, the U2 snRNA gene and the ITS-1 sequence showed one electrophoretic band and with one type of sequence. The U2 snRNA sequence was the most variable of the three multigene families studied. Results from two-colour FISH showed no co-localization of the gene coding from three multigene families and provided the first map of the chromosomes of the species. Conclusions A highly significant finding was observed in the analysis of the 5S rDNA, since two such distant species as H. didactylus and Sparus aurata share a 5S rDNA type. This 5S rDNA type has been detected in other species belonging to the Batrachoidiformes and Perciformes orders, but not in the Pleuronectiformes and Clupeiformes orders. Two hypotheses have been outlined: one is the possible vertical permanence of the shared type in some fish lineages, and the other is the possibility of a horizontal transference event between ancient species of the Perciformes and Batrachoidiformes orders. This finding opens a new perspective in fish evolution and in the knowledge of the dynamism of the 5S rDNA. Cytogenetic analysis allowed some evolutionary trends to be roughed out, such as the progressive change in the U2 snDNA and the organization of (GATA)n repeats, from dispersed to localized in one locus. The accumulation of (GATA)n repeats in one chromosome pair could be implicated in the evolution of a pair of proto-sex chromosomes. This possibility could situate H. didactylus as the most highly evolved of the Batrachoididae family in terms of sex chromosome biology. PMID:23039906
A Filing System for Medical Literature
Cumming, Millie
1988-01-01
The author reviews the types of systems available for personal literature files and makes specific recommendations for filing systems for family physicians. A personal filing system can be an integral part of family practice, and need not require time out of proportion to the worth of the system. Because it is a personal system, different types will suit different users; some systems, however, are more reliable than others for use in family practice. (Can Fam Physician 1988; 34:425-433.) PMID:21253062
Alignment of Family and Work Roles.
ERIC Educational Resources Information Center
Zimmerman, Jill; Cochran, Larry
1993-01-01
Human service workers (n=75) each rated positive and negative family members and positive and negative co-workers on six dimensions drawn from Holland's vocational types. Positive family members were significantly more similar to positive co-workers than were negative co-workers. Negative family members were significantly more similar to negative…
Variations in Family Constellation: Effects on Gender Schemata
ERIC Educational Resources Information Center
Katz, Phyllis A.
1987-01-01
Discusses the possible relationships between family socialization agents and gender schemata. Focuses on the interplay of the two types of family variables--distal and proximal--and gender schemata. Distal variables discussed are: (1) socioeconomic level; (2) ethnicity; (3) intact versus one-parent families; (4) maternal employment and sibling…
Family Structure, Community Context, and Adolescent Problem Behaviors
ERIC Educational Resources Information Center
Hoffman, John P.
2006-01-01
A number of models have been proposed to explain the relationship between family structure and adolescent problem behaviors, including several that consider parent-child relations, family income, stress, and residential mobility. However, studies have not explored whether the different types of communities within which families reside affect the…
Family Life Education in Multicultural Classrooms. Practical Guidelines.
ERIC Educational Resources Information Center
Abbey, Nancy; And Others
This guide presents approaches and guidelines for developing culturally appropriate and relevant family life education. It begins with a definition of culture and a look at different types of acculturation. A section on cultural relevance in family life education briefly explains the challenge of a multicultural approach in family life education…
Sok, Sohyune R; Shin, Sung Hee
2010-06-01
This study was done to compare factors influencing children's self-esteem between two parent families and single parent families. The participants were 692 children aged 11 to 13 yr (388 in two parent families and 304 in single parent families) recruited from 20 community agencies and 5 elementary schools in Gyeonggi Province and Seoul City, South Korea. Data were collected from May to July, 2007 using a survey questionnaire containing items on self-esteem, internal control, problematic behavior, school record, family hardiness, parent-child communication and social support. The data were analyzed using SPSS 15.0 program and factors affecting children's self-esteem were analyzed by stepwise multiple regression. Scores for the study variables were significantly different between the two groups. The factors influencing children's self-esteem were also different according to family type. For two parent families, internal control, problematic behavior, school record, and parent-child communication significantly predicted the level of self-esteem (adjusted R(2)=.505, p<.001). For single parent families, social support, family hardiness, internal control, problematic behavior, school record, and parent-child communication significantly predicted the level of self-esteem (adjusted R(2)=.444, p<.001). Nurse working with children should consider family type-specific factors influencing their self-esteem.
Exploring end of life priorities in Saudi males: usefulness of Q-methodology.
Hammami, Muhammad M; Al Gaai, Eman; Hammami, Safa; Attala, Sahar
2015-11-26
Quality end-of-life care depends on understanding patients' end-of-life choices. Individuals and cultures may hold end-of-life priorities at different hierarchy. Forced ranking rather than independent rating, and by-person factor analysis rather than averaging may reveal otherwise masked typologies. We explored Saudi males' forced-ranked, end-of-life priorities and dis-priorities. Respondents (n = 120) rank-ordered 47 opinion statements on end-of-life care following a 9-category symmetrical distribution. Statements' scores were analyzed by averaging analysis and factor analysis (Q-methodology). Respondents' mean age was 32.1 years (range, 18-65); 52% reported average religiosity, 88 and 83% ≥ very good health and life-quality, respectively, and 100% ≥ high school education. Averaging analysis revealed that the extreme five end-of-life priorities were to, be at peace with God, be able to say the statement of faith, maintain dignity, resolve conflicts, and have religious death rituals respected, respectively. The extreme five dis-priorities were to, die in the hospital, not receive intensive care if in coma, die at peak of life, be informed about impending death by family/friends rather than doctor, and keep medical status confidential from family/friends, respectively. Q-methodology classified 67% of respondents into five highly transcendent opinion types. Type-I (rituals-averse, family-caring, monitoring-coping, life-quality-concerned) and Type-V (rituals-apt, family-centered, neutral-coping, life-quantity-concerned) reported the lowest and highest religiosity, respectively. Type-II (rituals-apt, family-dependent, monitoring-coping, life-quantity-concerned) and Type-III (rituals-silent, self/family-neutral, avoidance-coping, life-quality & quantity-concerned) reported the best and worst life-quality, respectively. Type-I respondents were the oldest with the lowest general health, in contrast to Type-IV (rituals-apt, self-centered, monitoring-coping, life-quality/quantity-neutral). Of the extreme 14 priorities/dis-priorities for the five types, 29, 14, 14, 50, and 36%, respectively, were not among the extreme 20 priorities/dis-priorities identified by averaging analysis for the entire cohort. 1) Transcendence was the extreme end-of-life priority, and dying in the hospital was the extreme dis-priority. 2) Quality of life was conceptualized differently with less emphasize on its physiological aspects. 3) Disclosure of terminal illness to family/close friends was preferred as long it is through the patient. 4) Q-methodology identified five types of constellations of end-of-life priorities and dis-priorities that may be related to respondents' demographics and are partially masked by averaging analysis.
24 CFR 5.518 - Types of preservation assistance available to mixed families and other families.
Code of Federal Regulations, 2010 CFR
2010-04-01
... head of household or spouse has eligible immigration status as described in § 5.506; and (iii) The family does not include any person (who does not have eligible immigration status) other than the head of... if a family has no members with eligible immigration status, the family may be eligible for temporary...
ERIC Educational Resources Information Center
Cinamon, Rachel Gali; Weisel, Amatzia; Tzuk, Kineret
2007-01-01
To better understand the work-family interface within the family domain, this study investigated crossover effects of two types of work-family conflict among 120 participants (60 married couples), these conflicts' relations with parental self-efficacy and perceived quality of parent-child interaction, and the contribution of attributions of…
ARE BOTH PARENTS ALWAYS BETTER THAN ONE? PARENTAL CONFLICT AND YOUNG ADULT WELL-BEING *
Musick, Kelly; Meier, Ann
2010-01-01
Using data from three waves of the National Survey of Families and Households (N=1,963), we examine associations between adolescent family experiences and young adult well-being across a range of indicators, including schooling, substance use, and family-related transitions. We compare children living with both biological parents, but whose parents differ in how often they argue, to children in stepfather and single-mother families, and we assess the extent to which differences can be understood in terms of family income and parenting practices. Findings suggest that parental conflict is associated with children’s poorer academic achievement, increased substance use, and early family formation and dissolution. Living in single mother and stepfather families tend to be more strongly associated with our indicators of well-being, although differences between these family types and living with high conflict continuously married parents are often statistically indistinguishable. Income and parenting largely do not account for associations between adolescent family type and later life outcomes. We conclude that while children do better, on average, living with two biological married parents, the advantages of two-parent families are not shared equally by all. PMID:20824195
The relationship of maternal work characteristics to childcare type and quality in rural communities
De Marco, Allison; Crouter, Ann C.; Vernon-Feagans, Lynne
2010-01-01
Drawing on data from the Family Life Project collected in North Carolina and Pennsylvania, this paper examines the relationship between maternal work characteristics and childcare type and quality in rural communities. Research is limited on the childcare experiences of rural families. Rural areas have less access to formal childcare and families often commute long distances for work, restricting childcare options. Employed mothers using childcare were selected (n = 441). Logistic and OLS regression was used to examine which characteristics, including workplace support, objective occupational measures, hours, wage, and shift, predicted care type and quality. Results indicated that most families were using informal care. Those with more hazardous work conditions and working night shifts were less likely to use centers. Higher quality care was related to more workplace support, center use, and higher wages. Implications for social policy and practice are discussed. PMID:20664710
Pérez-Marín, Marián; Gómez-Rico, Irene; Montoya-Castilla, Inmaculada
2015-04-01
Type 1 diabetes mellitus is the most common chronic endocrine disease in children, with a very low incidence in the first months of life and reaching its peak during puberty (10-15 years old is the age group with the highest incidence at the time of onset). Based on the review of the scientific literature, our objective is to study the main psychosocial factors associated with the adjustment of these pediatric patients and their families. Research underscore the following risk factors: situational (stressful life events), personal (additional physical diseases, low self-esteem, emotional disturbances), and interpersonal (family breakdown and conflicts), and also protection factors (coping strategies, social support, fluent communication). There is a pressing need to deal with the disturbances that affect these diabetic patients and their families, by implementing effective health care psychological interventions that take into account psychosocial factors associated with the course of type 1 diabetes mellitus.
Collagens--structure, function, and biosynthesis.
Gelse, K; Pöschl, E; Aigner, T
2003-11-28
The extracellular matrix represents a complex alloy of variable members of diverse protein families defining structural integrity and various physiological functions. The most abundant family is the collagens with more than 20 different collagen types identified so far. Collagens are centrally involved in the formation of fibrillar and microfibrillar networks of the extracellular matrix, basement membranes as well as other structures of the extracellular matrix. This review focuses on the distribution and function of various collagen types in different tissues. It introduces their basic structural subunits and points out major steps in the biosynthesis and supramolecular processing of fibrillar collagens as prototypical members of this protein family. A final outlook indicates the importance of different collagen types not only for the understanding of collagen-related diseases, but also as a basis for the therapeutical use of members of this protein family discussed in other chapters of this issue.
Lewis, R A; Otterud, B; Stauffer, D; Lalouel, J M; Leppert, M
1990-06-01
Usher syndrome is a heterogeneous group of autosomal recessive disorders that combines variably severe congenital neurosensory hearing impairment with progressive night-blindness and visual loss similar to that in retinitis pigmentosa. Usher syndrome type I is distinguished by profound congenital (preverbal) deafness and retinal disease with onset in the first decade of life. Usher syndrome type II is characterized by partial hearing impairment and retinal dystrophy that occurs in late adolescence or early adulthood. The chromosomal assignment and the regional localization of the genetic mutation(s) causing the Usher syndromes are unknown. We analyzed a panel of polymorphic genomic markers for linkage to the disease gene among six families with Usher syndrome type I and 22 families with Usher syndrome type II. Significant linkage was established between Usher syndrome type II and the DNA marker locus THH33 (D1S81), which maps to chromosome 1q. The most likely location of the disease gene is at a map distance of 9 cM from THH33 (lod score 6.5). The same marker failed to show linkage in families segregating an allele for Usher syndrome type I. These data confirm the provisional assignment of the locus for Usher syndrome type II to the distal end of chromosome 1q and demonstrate that the clinical heterogeneity between Usher types I and II is caused by mutational events at different genetic loci. Regional localization has the potential to improve carrier detection and to provide antenatal diagnosis in families at risk for the disease.
Parenting and children's externalizing problems in substance-abusing families.
Stanger, Catherine; Dumenci, Levent; Kamon, Jody; Burstein, Marcy
2004-09-01
This study tested associations in path models among positive and negative parenting and children's rule-breaking behavior, aggressive and oppositional behavior, and attention problems for families with a drug-dependent parent. A structural model tested relations between parenting and children's externalizing problems for 251 families with 399 children between the ages of 6 and 18, controlling for nonindependence of ratings at the family level. The model also tested potential moderators, including child age, gender, and ethnicity (White vs. other), and caregiver gender (families with a female substance-abusing caregiver vs. families with a male substance-abusing caregiver). Results indicated that caregiver ratings of monitoring predicted rule-breaking behavior and use of inconsistent discipline predicted ratings of all 3 externalizing syndromes, after controlling parenting and externalizing problems for the effects of the moderators and after controlling significant relations among types of parenting and types of externalizing problems.
Jensen, Alexander C; Whiteman, Shawn D; Bernard, Julia M; McHale, Susan M
2017-09-01
This study assessed secondborn adolescents' perceptions of changes in the allocation of family resources following their firstborn siblings' departure from home after high school, and whether perceived changes were related to changes over 1 year in secondborns' academic functioning. Participants were secondborn siblings (mean age = 16.58, SD = 0.91) from 115 families in which the older sibling had left the family home in the previous year. Allocation of resources was measured via coded qualitative interviews. Most (77%) secondborns reported increases in at least one type of family resource (i.e., parental companionship, attention, material goods), and many reported an increase in multiple types of resources in the year following their older sibling's departure. Consistent with resource dilution theory, perceptions of increases in fathers' companionship, fathers' attention, and mothers' companionship were related to improvements over time in secondborns' academic functioning. © 2015 Family Process Institute.
Parenting and the Adjustment of Children Born to Gay Fathers Through Surrogacy.
Golombok, Susan; Blake, Lucy; Slutsky, Jenna; Raffanello, Elizabeth; Roman, Gabriela D; Ehrhardt, Anke
2017-01-23
Findings are presented on a study of 40 gay father families created through surrogacy and a comparison group of 55 lesbian mother families created through donor insemination with a child aged 3-9 years. Standardized interview, observational and questionnaire measures of stigmatization, quality of parent-child relationships, and children's adjustment were administered to parents, children, and teachers. Children in both family types showed high levels of adjustment with lower levels of children's internalizing problems reported by gay fathers. Irrespective of family type, children whose parents perceived greater stigmatization and children who experienced higher levels of negative parenting showed higher levels of parent-reported externalizing problems. The findings contribute to theoretical understanding of the role of family structure and family processes in child adjustment. © 2017 The Authors. Child Development published by Wiley Periodicals, Inc on behalf of Society for Research in Child Development.
A Comparative Study of Computer-Aided Clinical Diagnosis of Birth Defects.
1981-01-21
SUPPRESSIBLE HYPERPARATHYROIDISM TYPE NEONATAL FAMILIAL HYPOCHONDROPLASIA HYPOGLYCEMIA TYPE FAMILIAL NEONATAL HYPOGLYCEMIA TYPE LEUCINE INDUCED...disease. There are also causal links between disease nodes. These are unidirectional links indicating that one disease can cause the other. These links...contains the finding and has no superior which does.4 If f5 was then entered, D8 and D9 would quality to be evoked. This would cause D1 to be deactivated
Wang, Xueling; Lin, Xiao-Jiang; Tang, Xiangrong; Chai, Yong-Chuan; Yu, De-Hong; Chen, Dong-Ye; Wu, Hao
2017-11-01
The purpose of this study was to identify the genetic causes of a family presenting with multiple symptoms overlapping Usher syndrome type II (USH2) and Waardenburg syndrome type IV (WS4). Targeted next-generation sequencing including the exon and flanking intron sequences of 79 deafness genes was performed on the proband. Co-segregation of the disease phenotype and the detected variants were confirmed in all family members by PCR amplification and Sanger sequencing. The affected members of this family had two different recessive disorders, USH2 and WS4. By targeted next-generation sequencing, we identified that USH2 was caused by a novel missense mutation, p.V4907D in GPR98; whereas WS4 due to p.V185M in EDNRB. This is the first report of homozygous p.V185M mutation in EDNRB in patient with WS4. This study reported a Chinese family with multiple independent and overlapping phenotypes. In condition, molecular level analysis was efficient to identify the causative variant p.V4907D in GPR98 and p.V185M in EDNRB, also was helpful to confirm the clinical diagnosis of USH2 and WS4. Copyright © 2017 Elsevier B.V. All rights reserved.
Searching for the Kinkeepers: Historian Gender, Age, and Type 2 Diabetes Family History.
Giordimaina, Alicia M; Sheldon, Jane P; Kiedrowski, Lesli A; Jayaratne, Toby Epstein
2015-12-01
Kinkeepers facilitate family communication and may be key to family medical history collection and dissemination. Middle-aged women are frequently kinkeepers. Using type 2 diabetes (T2DM) as a model, we explored whether the predicted gender and age effects of kinkeeping can be extended to family medical historians. Through a U.S. telephone survey, nondiabetic Mexican Americans (n = 385), Blacks (n = 387), and Whites (n = 396) reported family histories of T2DM. Negative binomial regressions used age and gender to predict the number of affected relatives reported. Models were examined for the gender gap, parabolic age effect, and gender-by-age interaction predicted by kinkeeping. Results demonstrated support for gender and parabolic age effects but only among Whites. Kinkeeping may have application to the study of White family medical historians, but not Black or Mexican American historians, perhaps because of differences in family structure, salience of T2DM, and/or gender roles. © 2015 Society for Public Health Education.
NASA Astrophysics Data System (ADS)
Wendt, Harry; Orchiston, Wayne; Slee, Bruce
During the 1950s Australia was one of the world's foremost astronomical nations owing primarily to the work of the dynamic radio astronomy group within the Commonwealth Scientific and Industrial Research Organisation's Division of Radiophysics. Most of the observations were made at the network of field stations maintained by the Division in or near Sydney, and one of these field stations was Murraybank in the north-western suburbs of Sydney.
A Pilot Evaluation of the Family Caregiver Support Program
ERIC Educational Resources Information Center
Chen, Ya-Mei; Hedrick, Susan C.; Young, Heather M.
2010-01-01
The purposes of this study were to evaluate a federal and state-funded Family Caregiver Support Program (FCSP) and explore what types of caregiver support service are associated with what caregiver outcomes. Information was obtained on a sample of 164 caregivers' use of eleven different types of support service. Descriptive and comparative…
Cheng, Sheung-Tak; Leung, Edward M F; Chan, Trista Wai Sze
2014-06-01
This study examined the associations between social network types and peak expiratory flow (PEF), and whether these associations were mediated by social and physical activities and mood. Nine hundred twenty-four community-dwelling Chinese older adults, who were classified into five network types (diverse, friend-focused, family-focused, distant family, and restricted), provided data on demographics, social and physical activities, mood, smoking, chronic diseases, and instrumental activities of daily living. PEF and biological covariates, including blood lipids and glucose, blood pressure, and height and weight, were assessed. Two measures of PEF were analyzed: the raw reading in L/min and the reading expressed as percentage of predicted normal value on the basis of age, sex, and height. Diverse, friend-focused, and distant family networks were hypothesized to have better PEF values compared with restricted networks, through higher physical and/or social activities. No relative advantage was predicted for family-focused networks because such networks tend to be associated with lower physical activity. Older adults with diverse, friend-focused, and distant family networks had significantly better PEF measures than those with restricted networks. The associations between diverse network and PEF measures were partially mediated by physical exercise and socializing activity. The associations between friend-focused network and PEF measures were partially mediated by socializing activity. No significant PEF differences between family-focused and restricted networks were found. Findings suggest that social network types are associated with PEF in older adults, and that network-type differences in physical and socializing activity is partly responsible for this relationship. PsycINFO Database Record (c) 2014 APA, all rights reserved.
Zöller, Bengt; Li, Xinjun; Sundquist, Jan; Sundquist, Kristina
2014-09-01
Familial clustering of prostate, breast and colorectal cancer is well established, but the familial risk of these cancers has not been determined among adoptees. The aim was to disentangle the contributions of genetic and environmental factors to the familial transmission of prostate, breast and colorectal cancer. The Swedish Multi-Generation Register was used to follow all adoptees born between 1932 and 1969 (n=70,965) for prostate, breast and colorectal cancer from January 1958 up to December 2010. The risk of prostate, breast and colorectal cancer was estimated in adoptees with at least one biological parent with the same cancer type compared with adoptees without a biological parent with the same cancer type. The risk of cancer was also determined in adoptees with at least one adoptive parent with cancer compared with adoptees with an adoptive parent without cancer. Adoptees with at least one biological parent with prostate, breast or colorectal cancer were more likely to have cancer of the same type than adoptees with biological parents not affected by these respective cancer types (standardised incidence ratio=SIR: 1.8 [95% confidence interval 1.2-2.7], 2.0 [1.6-2.5] and 1.9 [1.2-2.9], respectively). In contrast, adoptees with at least one adoptive parent with prostate, breast or colorectal cancer were not at an increased risk of these respective cancer types (SIR=1.2 [0.94-1.6], 0.97 [0.71-1.3], and 1.1 [0.71-1.5], respectively). The findings of the study support the importance of genetic/biological factors in the familial transmission of prostate, breast and colorectal cancer. Copyright © 2014 Elsevier Ltd. All rights reserved.
Akoğlu, Gülşen; Metin, Ahmet; Ceylan, Gülay Güleç; Emre, Selma; Akpolat, Demet; Süngü, Nuran
2015-02-01
Focal epithelial hyperplasia (FEH) is a rare and benign papillomatous disease of the oral cavity, which is closely associated with human papillomavirus (HPV) type 13 and 32. Genetic susceptibility to HPV infections are supported by recent studies involving the human leukocyte antigen system (HLA). In this report, we aimed to determine the clinicopathological features of a Turkish family with FEH and to detect the shared HLA DR and DQ types. HPV DNA typing of tissue samples and HLA determination from blood samples of four family members were performed by polymerase chain reaction. Histopathological examination of all patients revealed acanthotic papillomatous epidermis, koilocytes, apoptotic keratinocytes, and mitosoid bodies. HPV13 was detected by polymerase chain reaction. HLA DQA1*0501, HLA DQB1*0302, and HLA DRB1*11 alleles were common in all family members. HLA DRB1*04 was detected in three of them. This report is the first step for the investigation of involvement of HLA types in the pathogenesis of Turkish patients with FEH. © 2014 The International Society of Dermatology.
Atkinson-Palombo, Carol
2010-01-01
Light rail transit (LRT) is increasingly accompanied by overlay zoning which specifies the density and type of future development to encourage landscapes conducive to transit use. Neighbourhood type (based on land use mix) is used to partition data and investigate how pre-existing land use, treatment with a park-and-ride (PAR) versus walk-and-ride (WAR) station and overlay zoning interrelate. Hedonic models estimate capitalisation effects of LRT-related accessibility and overlay zoning on single-family houses and condos in different neighbourhoods for the system in metropolitan Phoenix, Arizona. Impacts differ by housing and neighbourhood type. Amenity-dominated mixed-use neighbourhoods-predominantly WAR communities-experience premiums of 6 per cent for single-family houses and over 20 per cent for condos, the latter boosted an additional 37 per cent by overlay zoning. Residential neighbourhoods-predominantly PAR communities-experience no capitalisation benefits for single-family houses and a discount for condos. The results suggest that land use mix is an important variable to select comparable neighbourhoods.
Yu, Xue; Yu, Hong; Kong, Lingfeng; Li, Qi
2014-02-01
The deduced amino acid sequence characteristics, classification and phylogeny of tyrosinase gene family in the Pacific oyster (Crassostrea gigas Thunberg) were analyzed using bioinformatics methods. The results showed that gene duplication was the major cause of tyrosinase gene expansion in the Pacific oyster. The tyrosinase gene family in the Pacific oyster can be further classified into three types: secreted form (Type A), cytosolic form (Type B) and membrane-bound form (Type C). Based on the topology of the phylogenetic tree of the Pacific oyster tyrosinases, among Type A isoforms, tyr18 seemed divergent from other Type A tyrosinases early, while tyr2 and tyr9 appeared divergent early in Type B. In Type C tyrosinses, tyr8 was divergent early. The cluster of the Pacific oyster tyrosinasesis determined by their classifications and positions in the scaffolds. Further analysis suggested that Type A tyrosinases of C. gigas clustered with those from cephalopods and then with nematodes and cnidarians. Type B tyrosinases were generally clustered with the same type of tyrosinases from molluscas and nematodes, and then with those from platyhelminths, cnidarians and chordates. Type A tyrosinases in the Pacific oyster and the Pearl oyster expanded independently and were divergent from membrane-bound form of tyrosinases in chordata, platyhelminthes and annelida. These observations suggested that Type C tyrosinases in the bivalve had a distinct evolution direction.
Biochemical and genetic studies in cystinuria: observations on double heterozygotes of genotype I/II
Morin, Claude L.; Thompson, Margaret W.; Jackson, Sanford H.; Sass-Kortsak, Andrew
1971-01-01
10 families with cystinuria were investigated by measuring: (a) quantitative 24 hr urinary excretion of amino acids by column chromatography; (b) endogenous renal clearances of amino acids and creatinine; (c) intestinal uptake of 34C-labeled L-cystine, L-lysine, and L-arginine using jejunal mucosal biopsies; (d) oral cystine loading tests. All four of these were studied in the probands and the first two in a large number of the family members. 49 members of 8 families were found to have a regular genetic pattern as described previously by Harris, Rosenberg, and their coworkers. Clinical or biochemical differences between the homozygotes type I (recessive cystinuria) and homozygotes type II (incompletely recessive cystinuria) have not been found. Both types excreted similarly excessive amounts of cystine, lysine, arginine, and ornithine, and had high endogenous renal clearances for these four amino acids. Some homozygotes of both types had a cystine clearance higher than the glomerular filtration rate. Jejunal mucosa from both types of homozygotes exhibited near complete inability to concentrate cystine and lysine in vitro. This was also documented in vivo with oral cystine loads. The heterozygotes type I were phenotypically normal with respect to the above four measurements. The heterozygotes type II showed moderate but definite abnormalities in their urinary excretion and their renal clearances of dibasic amino acids. Of the four amino acids concerned, cystine was the most reliable marker to differentiate between the heterozygotes type II and the homozygous normals. In this study, type III cystinuria, as described by Rosenberg, was not encountered. In two additional families, double heterozygotes of genotype I/II were found. The disease affecting these is clinically and biochemically less severe than that affecting homozygotes of either type I or type II. With respect to the four parameters used in this study, the double heterozygotes type I/II have results which are intermediate between those of the homozygotes type I and II and those of the heterozygotes type II. Images PMID:5564399
Spatial analysis of paediatric swimming pool submersions by housing type.
Shenoi, Rohit P; Levine, Ned; Jones, Jennifer L; Frost, Mary H; Koerner, Christine E; Fraser, John J
2015-08-01
Drowning is a major cause of unintentional childhood death. The relationship between childhood swimming pool submersions, neighbourhood sociodemographics, housing type and swimming pool location was examined in Harris County, Texas. Childhood pool submersion incidents were examined for spatial clustering using the Nearest Neighbor Hierarchical Cluster (Nnh) algorithm. To relate submersions to predictive factors, an Markov Chain Monte Carlo (MCMC) Poisson-Lognormal-Conditional Autoregressive (CAR) spatial regression model was tested at the census tract level. There were 260 submersions; 49 were fatal. Forty-two per cent occurred at single-family residences and 36% at multifamily residential buildings. The risk of a submersion was 2.7 times higher for a child at a multifamily than a single-family residence and 28 times more likely in a multifamily swimming pool than a single family pool. However, multifamily submersions were clustered because of the concentration of such buildings with pools. Spatial clustering did not occur in single-family residences. At the tract level, submersions in single-family and multifamily residences were best predicted by the number of pools by housing type and the number of children aged 0-17 by housing type. Paediatric swimming pool submersions in multifamily buildings are spatially clustered. The likelihood of submersions is higher for children who live in multifamily buildings with pools than those who live in single-family homes with pools. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.
[Waardenburg syndrome--ophthalmic findings and criteria for diagnosis: case reports].
Nasser, Luciano Sólia; Paranaíba, Lívia Maris Ribeiro; Frota, Ana Cláudia; Gomes, Andreia; Versiani, Gisele; Martelli Júnior, Hercílio
2012-10-01
To describe the clinical and imaginological features of two families with Waardenburg syndrome: type I and II, with emphasis on ophthalmic manifestations, as well as the pattern of genetic inheritance. We conducted a clinical study involving two families affected by Waardenburg syndrome, and through the pedigree, determined the present pattern of genetic inheritance. Analyses were performed including the measurement of visual acuity, the presence of dystopia cantorum (telecanthus), evaluation of iris color and retinal mapping, as well as dermatological and otological examinations. The pedigree of the family affected by the Waardenburg syndrome type I showed an autosomal dominant mode of transmission. The syndrome was present at 85.71% of patients. The dystopia cantorum was the most frequent feature, followed by the white streak on the skin of the forehead, hypopigmentation of the iris and retina and deafness. The Waardenburg syndrome family type II had 33.33% of family members affected by the syndrome. No member had dystopia cantorum and hypopigmentation of the iris. Three patients had sensorineural hearing loss (12.5%), associated with white forelock and achromatic spots confluent by the body. This study shows the importance of the ophthalmologist in aiding the diagnosis of this rare genetic condition, since it includes ocular disorders such as telecanthus, hypopigmentation of the iris and retina. The cantorum dystopia is the main diagnostic criterion to differentiate type I and II syndrome and should be done by a trained ophthalmologist. The families are in medical monitoring, receiving genetic guidelines and care related to eye protection.
He, Yawen; Zhao, Ruiming; Di, Zhiyong; Li, Zhongjie; Xu, Xiaobo; Hong, Wei; Wu, Yingliang; Zhao, Huabin; Li, Wenxin; Cao, Zhijian
2013-08-26
The scorpion family Chaerilidae is phylogenetically differentiated from Buthidae. Their venom components are not known, and the evolution of the venom components is not well understood. Here, we performed a transcriptome analysis of the venom glands from two scorpion species, Chaerilus tricostatus and Chaerilus tryznai. Fourteen types of venom peptides were discovered from two species, 10 of which were shared by both C. tricostatus and C. tryznai. Notably, the venom components of Chaerilidae were also found to contain four toxin types (NaTx, β-KTx, Scamp and bpp-like peptides), previously considered to be specific to Buthidae. Moreover, cytolytic peptides were the most abundant toxin type in C. tricostatus, C. tryznai and the family Euscorpiidae. Furthermore, 39 and 35 novel atypical venom molecules were identified from C. tricostatus and C. tryznai, respectively. Finally, the evolutionary analysis showed that the NaTx, β-KTx, and bpp-like toxin types were recruited into the venom before the lineage split between Buthidae and non-Buthidae families. This study provides an integrated understanding of the venom components of the scorpion family Chaerilidae. The family Chaerilidae has a specific venom arsenal that is intermediate between Buthidae and non-Buthidae, which suggests the dynamic evolution of scorpion venom components from Buthidae to non-Buthidae species. This work gave a first overview of the venom components of Chaerilidae scorpions, and discovered large numbers of new toxin molecules, which significantly enriches the molecular diversity of scorpion venom peptides/proteins components. Based on phylogenetic analysis we speculated that the NaTx, β-KTx and bpp-like toxin type genes were recruited into venom before the lineage split between Buthidae and non-Buthidae. By Comparing the toxin types and abundance of the Buthidae, Chaerilidae and non-Buthidae families, we found that the family Chaerilidae has a specific venom arsenal that is intermediate Buthidae and non-Buthidae, which suggests the dynamic evolution of scorpion venom components from Buthidae to non-Buthidae species. Copyright © 2013 Elsevier B.V. All rights reserved.
Development of a Diabetes Education Program for Youth With Type 2 Diabetes
Grey, Margaret; Schreiner, Barbara; Pyle, Laura
2009-01-01
Purpose The purpose of this article is to present the Treatment Options for Type 2 Diabetes in Adolescents and Youth (TOD2AY) study and a description of the implementation of the standard diabetes education (SDE) program. Methods A total of 218 participants (one third of the eventual sample of 750) were initially enrolled in the study. To date, the mean age of participants was 14.3 + 2.1 years, with 63% being female. Families of study participants were largely low or middle income (more than half report family income <$35 000) and about three-quarters were minority. Results More than three-quarters (79%) of families achieved full mastery of the entire SDE program. Mastery required on average 5.5 + 1.3 sessions. In addition, 62% of the families were able to achieve mastery of the session topic in a single visit. Conclusions In summary, the TOD2AY study SDE program fills the need for effective, engaging materials for youth and their families to use in mastering essential type 2 diabetes skills and knowledge. PMID:19244566
Clinical and genetic investigation of families with type II Waardenburg syndrome.
Chen, Yong; Yang, Fuwei; Zheng, Hexin; Zhou, Jianda; Zhu, Ganghua; Hu, Peng; Wu, Weijing
2016-03-01
The present study aimed to investigate the molecular pathology of Waardenburg syndrome type II in three families, in order to provide genetic diagnosis and hereditary counseling for family members. Relevant clinical examinations were conducted on the probands of the three pedigrees. Peripheral blood samples of the probands and related family members were collected and genomic DNA was extracted. The coding sequences of paired box 3 (PAX3), microphthalmia‑associated transcription factor (MITF), sex‑determining region Y‑box 10 (SOX10) and snail family zinc finger 2 (SNAI2) were analyzed by polymerase chain reaction and DNA sequencing. The heterozygous mutation, c.649_651delAGA in exon 7 of the MITF gene was detected in the proband and all patients of pedigree 1; however, no pathological mutation of the relevant genes (MITF, SNAI2, SOX10 or PAX3) was detected in pedigrees 2 and 3. The heterozygous mutation c.649_651delAGA in exon 7 of the MITF gene is therefore considered the disease‑causing mutation in pedigree 1. However, there are novel disease‑causing genes in Waardenburg syndrome type II, which require further research.
Samuel-Hodge, Carmen D.; Holder-Cooper, Judith C.; Gizlice, Ziya; Davis, Gwendolyn; Steele, Sonia P.; Keyserling, Thomas C.; Kumanyika, Shiriki K.; Brantley, Phillip J.; Svetkey, Laura P.
2016-01-01
Objective To develop and test a family-centered behavioral weight loss intervention for African American adults with type 2 diabetes. Methods In this randomized trial, dyads consisting of African American adult with overweight or obesity and type 2 diabetes (index participant) paired with a family partner with overweight or obesity, but not diagnosed with diabetes, were assigned in a 2:1 ratio to a 20-week special intervention (SI) or delayed intervention (DI) control group. The primary outcome was weight loss among index participants at 20 weeks follow-up. Results One hundred-eight participants (54 dyads – 36 (SI) and 18 (DI) dyads) were enrolled: 81% females; mean age, 51 years; mean weight,103 kg; and mean BMI, 37 kg/m2. At post-intervention, 96 participants (89%) returned for follow-up measures. Among index participants, mean difference in weight loss between groups was −5.0 kg, p<.0001 (−3.6 kg loss among SI; 1.4 kg gain in DI). SI index participants showed significantly greater improvements in hemoglobin A1c, depressive symptoms, family interactions, and dietary, physical activity, and diabetes self-care behaviors. SI family partners also had significant weight loss (−3.9 kg (SI) vs. −1.0 kg (DI) p=0.02). Conclusions A family-centered, behavioral weight loss intervention led to clinically significant short-term weight loss among family dyads. PMID:27911049
Mothers' Economic Conditions and Sources of Support in Fragile Families
ERIC Educational Resources Information Center
Kalil, Ariel; Ryan, Rebecca M.
2010-01-01
Rising rates of nonmarital childbirth in the United States have resulted in a new family type, the fragile family. Such families, which include cohabiting couples as well as single mothers, experience significantly higher rates of poverty and material hardship than their married counterparts. Ariel Kalil and Rebecca Ryan summarize the economic…
Policies and Practices in Canadian Family Child Care Agencies. You Bet I Care!
ERIC Educational Resources Information Center
Doherty, Gillian; Lero, Donna S.; Tougas, Jocelyne; LaGrange, Annette; Goelman, Hillel
Four Canadian provinces license or contract with family child care agencies, which in turn recruit and monitor child care providers. These family child care agencies have two primary roles: monitoring and supervising providers, and supplying their affiliated family child care providers with professional development opportunities and other types of…
ERIC Educational Resources Information Center
Ashida, Sato; Kaphingst, Kimberly A.; Goodman, Melody; Schafer, Ellen J.
2013-01-01
Older individuals play a critical role in disseminating family health history (FHH) information that can facilitate disease prevention among younger family members. This study evaluated the characteristics of older adults and their familial networks associated with two types of communication ("have shared" and "intend to share…
The Costs and Benefits of Social Support in Families.
ERIC Educational Resources Information Center
Robertson, Elizabeth B.; And Others
1991-01-01
Using survey and observational data on families in rural midwest, found that, in families headed by man with unstable work history, wife's support from relatives and friends was positively associated with husband's negativity toward spouse. This type of wife support in stable work families was inversely associated with husband's negativity.…
Federal Income Tax Cuts and Low-Income Families.
ERIC Educational Resources Information Center
Sammartino, Frank J.
This report identifies overall tax burdens faced by low income families, explaining how those burdens would change if certain types of federal income tax cuts were enacted. Using detailed household-level data on incomes and taxes, the report shows how federal income and payroll taxes differ for low income families and how these families benefit…
Comparison Groups in Autism Family Research: Down Syndrome, Fragile X Syndrome, and Schizophrenia
ERIC Educational Resources Information Center
Seltzer, Marsha Mailick; Abbeduto, Leonard; Krauss, Marty Wyngaarden; Greenberg, Jan; Swe, April
2004-01-01
This paper examines methodological challenges inherent in conducting research on families of children with autism and in comparing these families with others who are coping with different types of disabilities or who have nondisabled children. Although most comparative research has contrasted families whose child has autism with those whose child…
We're Decent People: Constructing and Managing Family Identity in Rural Workingclass Communities
ERIC Educational Resources Information Center
Kiter Edwards, Margie L.
2004-01-01
Using grounded theory methodology, I establish family identity management as an important type of invisible work that connects women's household-based domestic activities with community members perceptions and treatment of them and their family members. Detailed observations of household routines and family interactions, as well as in-depth…
Portrayal of Families on Prime-Time TV: Structure, Type and Frequency.
ERIC Educational Resources Information Center
Skill, Thomas; And Others
1987-01-01
Documents the range and extent of family life configurations in prime-time television over a six-year period (1979-1985). Reveals that prime-time network television tends to reinforce conservative to moderate models of family life, while also presenting a diversity of nonstandard interpretations of family which are framed in the nonthreatening…
Family Contact and Recidivism: A Longitudinal Study of Adjudicated Delinquents in Residential Care
ERIC Educational Resources Information Center
Ryan, Joseph P.; Yang, Huilan
2005-01-01
Families are critical to understanding and interrupting patterns of delinquent and criminal behavior. The objective of this study was to determine whether specific types of contact with family members are associated with a reduced risk of recidivism after a long-term residential program for juvenile delinquents. Family contact reports were…
Federal Register 2010, 2011, 2012, 2013, 2014
2012-05-10
... Activities (Bereaved Family Member Satisfaction Survey) Under OMB Review AGENCY: Veterans Health...: Bereaved Family Member Satisfaction Survey, VA Form 10- 21081(NR). OMB Control Number: 2900-0701. Type of...) will be use to survey family members of deceased veterans on their satisfaction with the quality care...
Familial aggregation of focal seizure semiology in the Epilepsy Phenome/Genome Project.
Tobochnik, Steven; Fahlstrom, Robyn; Shain, Catherine; Winawer, Melodie R
2017-07-04
To improve phenotype definition in genetic studies of epilepsy, we assessed the familial aggregation of focal seizure types and of specific seizure symptoms within the focal epilepsies in families from the Epilepsy Phenome/Genome Project. We studied 302 individuals with nonacquired focal epilepsy from 149 families. Familial aggregation was assessed by logistic regression analysis of relatives' traits (dependent variable) by probands' traits (independent variable), estimating the odds ratio for each symptom in a relative given presence vs absence of the symptom in the proband. In families containing multiple individuals with nonacquired focal epilepsy, we found significant evidence for familial aggregation of ictal motor, autonomic, psychic, and aphasic symptoms. Within these categories, ictal whole body posturing, diaphoresis, dyspnea, fear/anxiety, and déjà vu/jamais vu showed significant familial aggregation. Focal seizure type aggregated as well, including complex partial, simple partial, and secondarily generalized tonic-clonic seizures. Our results provide insight into genotype-phenotype correlation in the nonacquired focal epilepsies and a framework for identifying subgroups of patients likely to share susceptibility genes. © 2017 American Academy of Neurology.
Horizontal transfers of Mariner transposons between mammals and insects.
Oliveira, Sarah G; Bao, Weidong; Martins, Cesar; Jurka, Jerzy
2012-09-26
Active transposable elements (TEs) can be passed between genomes of different species by horizontal transfer (HT). This may help them to avoid vertical extinction due to elimination by natural selection or silencing. HT is relatively frequent within eukaryotic taxa, but rare between distant species. Closely related Mariner-type DNA transposon families, collectively named as Mariner-1_Tbel families, are present in the genomes of two ants and two mammalian genomes. Consensus sequences of the four families show pairwise identities greater than 95%. In addition, mammalian Mariner1_BT family shows a close evolutionary relationship with some insect Mariner families. Mammalian Mariner1_BT type sequences are present only in species from three groups including ruminants, tooth whales (Odontoceti), and New World leaf-nosed bats (Phyllostomidae). Horizontal transfer accounts for the presence of Mariner_Tbel and Mariner1_BT families in mammals. Mariner_Tbel family was introduced into hedgehog and tree shrew genomes approximately 100 to 69 million years ago (MYA). Most likely, these TE families were transferred from insects to mammals, but details of the transfer remain unknown.
Adoption status and family relationships during the transition to young adulthood.
Walkner, Amy J; Rueter, Martha A
2014-12-01
Although adoptive family research has increased, most has focused on childhood and adolescence. Despite the known importance of parent-adolescent relationships drawn from the general population, we know little about how adoptive family relationships change or remain the same as adopted adolescents enter young adulthood. Using the Sibling Interaction and Behavior Study, the purpose of this study was to build on previous research to explore differences in conflict, closeness, and relationship quality between adoptive and nonadoptive families during the transition from late adolescence into young adulthood. Self-report and independent observations were collected from children, mothers, and fathers at late adolescence (range: 14.50-18.49 years) and young adulthood (range:18.50-22.49 years), and analyzed using within-subjects repeated measures. Although adoptive family dyads had lower relationship indicators than nonadoptive family dyads, similar trends over time occurred for both family types. Using individuation theory, we suggest individuation occurs for both types of families, with adoptees facing unique additional challenges during this process, including integration of adoption status, adoption communicativeness, adoption information seeking, and relationship with birth parents as possible influences in this process.
Work Demands and Work-to-Family and Family-to-Work Conflict: Direct and Indirect Relationships
ERIC Educational Resources Information Center
Voydanoff, Patricia
2005-01-01
This article uses a demands-and-resources approach to examine relationships between three types of work demands and work-to-family and family-to-work conflict: time-based demands, strain-based demands, and boundary-spanning demands. The analysis is based on data from 2,155 employed adults living with a family member who were interviewed for the…
Jönsson, Lisbeth; Hallström, Inger; Lundqvist, Anita
2010-05-27
Worldwide, insulin-dependent type 1 diabetes is one of the most frequently diagnosed long-term endocrine disorders found in children and the incidences of this diseased is still increasing. In Sweden the routines are, according to national guidelines, when the child is diagnosed with type 1 diabetes, the child and its family remains at the hospital for about two weeks. There is limited knowledge about how a diabetes team handles a child and its family from admission to discharge, therefore the purpose of this study was to seek a deeper understanding of how the diabetes team's parent/child education process works, from admission to discharge, among families with a child newly diagnosed with type 1 diabetes. Qualitative data collection was used. Four focus-group interviews, with a sample of three diabetes teams from different paediatric hospitals in the south western part of Sweden, were conducted and the data recorded on tape and then analysed using qualitative content analysis. The results indicate that achieving a status of self-care on the part of the patient is the goal of the diabetes education programme. Part of the programme is aimed at guiding the child and its parents towards self-help through the means of providing them with knowledge of the disease and its treatment to enable the whole family to understand the need for cooperation in the process. To do this requires an understanding, by the diabetes team, of the individualities of the family in order to gain an overall picture. The results of this study show that the diabetes education programme is specifically designed for each family using the internationally recommended clinical practice guidelines with its specific aims and objectives. Achieving the families' willingness to assist in the self-care of the child care is the goal of the parent education process. To achieve this, the paediatric diabetes specialist nurse and the diabetes specialist paediatrician immediately and deliberately start the process of educating the family using a programme designed to give them the necessary knowledge and skills they will need to manage their child's type 1 diabetes at home.
Molecular evolution of miraculin-like proteins in soybean Kunitz super-family.
Selvakumar, Purushotham; Gahloth, Deepankar; Tomar, Prabhat Pratap Singh; Sharma, Nidhi; Sharma, Ashwani Kumar
2011-12-01
Miraculin-like proteins (MLPs) belong to soybean Kunitz super-family and have been characterized from many plant families like Rutaceae, Solanaceae, Rubiaceae, etc. Many of them possess trypsin inhibitory activity and are involved in plant defense. MLPs exhibit significant sequence identity (~30-95%) to native miraculin protein, also belonging to Kunitz super-family compared with a typical Kunitz family member (~30%). The sequence and structure-function comparison of MLPs with that of a classical Kunitz inhibitor have demonstrated that MLPs have evolved to form a distinct group within Kunitz super-family. Sequence analysis of new genes along with available MLP sequences in the literature revealed three major groups for these proteins. A significant feature of Rutaceae MLP type 2 sequences is the presence of phosphorylation motif. Subtle changes are seen in putative reactive loop residues among different MLPs suggesting altered specificities to specific proteases. In phylogenetic analysis, Rutaceae MLP type 1 and type 2 proteins clustered together on separate branches, whereas native miraculin along with other MLPs formed distinct clusters. Site-specific positive Darwinian selection was observed at many sites in both the groups of Rutaceae MLP sequences with most of the residues undergoing positive selection located in loop regions. The results demonstrate the sequence and thereby the structure-function divergence of MLPs as a distinct group within soybean Kunitz super-family due to biotic and abiotic stresses of local environment.
Moon, Joon Ho; Roh, Eun; Oh, Tae Jung; Kim, Kyoung Min; Moon, Jae Hoon; Lim, Soo; Jang, Hak Chul; Choi, Sung Hee
2017-01-01
We assessed the impact of a family history of diabetes on type 2 diabetes, metabolic syndrome, and behavioral traits in young Korean adults. Subjects aged 25-44 years were included, and the presence of a family history of diabetes was obtained by a self-reported questionnaire (the Korea National Health and Nutrition Survey 2010). We compared the prevalence of type 2 diabetes and metabolic syndrome, and other metabolic parameters, including blood pressure and lipid profile. Of 2059 participants, those with a family history of diabetes involving first-degree relatives (n = 489, 23.7%) had a significantly higher prevalence of impaired fasting glucose (14.3 vs. 11.7%) and type 2 diabetes (6.7 vs. 1.8%), compared to those without a family history ( P < 0.001). The prevalence of metabolic syndrome (21.3 vs. 12.1%, P < 0.001) and its components (except for high-density lipoprotein cholesterol) were greater in subjects with a family history of diabetes. Among subjects exhibiting normal glucose tolerance (n = 1704), those with a family history of diabetes had higher fasting glucose (89.0 vs. 87.8 mg/dL, P < 0.001) and triglyceride (100.5 vs. 89.0 mg/dL, P < 0.001), and lower beta cell function by the homeostasis model assessment (HOMA-β; 134.2 vs. 137.5, P = 0.020). The obesity indices (body mass index, waist circumference, and triglyceride) were significantly correlated with those of both parents ( P < 0.01 for all variables). Risk-reducing behavior, including regular exercise (18.2 vs. 19.7%, P = 0.469) and calorie intake (2174.8 vs. 2149.1 kcal/day, P = 0.636), did not markedly differ according to a family history of diabetes. Young adults with a family history of diabetes had an increased risk of type 2 diabetes and metabolic syndrome, even though they currently exhibited a normal glycemic profile. Proactive lifestyle consultation is requested especially among healthy young population with a family history of diabetes.
Toyoda, Tetsuro
2011-01-01
Synthetic biology requires both engineering efficiency and compliance with safety guidelines and ethics. Focusing on the rational construction of biological systems based on engineering principles, synthetic biology depends on a genome-design platform to explore the combinations of multiple biological components or BIO bricks for quickly producing innovative devices. This chapter explains the differences among various platform models and details a methodology for promoting open innovation within the scope of the statutory exemption of patent laws. The detailed platform adopts a centralized evaluation model (CEM), computer-aided design (CAD) bricks, and a freemium model. It is also important for the platform to support the legal aspects of copyrights as well as patent and safety guidelines because intellectual work including DNA sequences designed rationally by human intelligence is basically copyrightable. An informational platform with high traceability, transparency, auditability, and security is required for copyright proof, safety compliance, and incentive management for open innovation in synthetic biology. GenoCon, which we have organized and explained here, is a competition-styled, open-innovation method involving worldwide participants from scientific, commercial, and educational communities that aims to improve the designs of genomic sequences that confer a desired function on an organism. Using only a Web browser, a participating contributor proposes a design expressed with CAD bricks that generate a relevant DNA sequence, which is then experimentally and intensively evaluated by the GenoCon organizers. The CAD bricks that comprise programs and databases as a Semantic Web are developed, executed, shared, reused, and well stocked on the secure Semantic Web platform called the Scientists' Networking System or SciNetS/SciNeS, based on which a CEM research center for synthetic biology and open innovation should be established. Copyright © 2011 Elsevier Inc. All rights reserved.
Explorative visual analytics on interval-based genomic data and their metadata.
Jalili, Vahid; Matteucci, Matteo; Masseroli, Marco; Ceri, Stefano
2017-12-04
With the wide-spreading of public repositories of NGS processed data, the availability of user-friendly and effective tools for data exploration, analysis and visualization is becoming very relevant. These tools enable interactive analytics, an exploratory approach for the seamless "sense-making" of data through on-the-fly integration of analysis and visualization phases, suggested not only for evaluating processing results, but also for designing and adapting NGS data analysis pipelines. This paper presents abstractions for supporting the early analysis of NGS processed data and their implementation in an associated tool, named GenoMetric Space Explorer (GeMSE). This tool serves the needs of the GenoMetric Query Language, an innovative cloud-based system for computing complex queries over heterogeneous processed data. It can also be used starting from any text files in standard BED, BroadPeak, NarrowPeak, GTF, or general tab-delimited format, containing numerical features of genomic regions; metadata can be provided as text files in tab-delimited attribute-value format. GeMSE allows interactive analytics, consisting of on-the-fly cycling among steps of data exploration, analysis and visualization that help biologists and bioinformaticians in making sense of heterogeneous genomic datasets. By means of an explorative interaction support, users can trace past activities and quickly recover their results, seamlessly going backward and forward in the analysis steps and comparative visualizations of heatmaps. GeMSE effective application and practical usefulness is demonstrated through significant use cases of biological interest. GeMSE is available at http://www.bioinformatics.deib.polimi.it/GeMSE/ , and its source code is available at https://github.com/Genometric/GeMSE under GPLv3 open-source license.
Evolution of HIV-1 coreceptor usage and coreceptor switching during pregnancy.
Ransy, Doris G; Motorina, Alena; Merindol, Natacha; Akouamba, Bertine S; Samson, Johanne; Lie, Yolanda; Napolitano, Laura A; Lapointe, Normand; Boucher, Marc; Soudeyns, Hugo
2014-03-01
Coreceptor switch from CCR5 to CXCR4 is associated with HIV disease progression. To document the evolution of coreceptor tropism during pregnancy, a longitudinal study of envelope gene sequences was performed in a group of pregnant women infected with HIV-1 of clade B (n=10) or non-B (n=9). Polymerase chain reaction (PCR) amplification of the V1-V3 region was performed on plasma viral RNA, followed by cloning and sequencing. Using geno2pheno and PSSMX4R5, the presence of X4 variants was predicted in nine of 19 subjects (X4 subjects) independent of HIV-1 clade. Six of nine X4 subjects exhibited CD4(+) T cell counts <200 cells/mm(3), and the presence of X4-capable virus was confirmed using a recombinant phenotypic assay in four of seven cases where testing was successful. In five of nine X4 subjects, a statistically significant decline in the geno2pheno false-positive rate was observed during the course of pregnancy, invariably accompanied by progressive increases in the PSSMX4R5 score, the net charge of V3, and the relative representation of X4 sequences. Evolution toward X4 tropism was also echoed in the primary structure of V2, as an accumulation of substitutions associated with CXCR4 tropism was seen in X4 subjects. Results from these experiments provide the first evidence of the ongoing evolution of coreceptor utilization from CCR5 to CXCR4 during pregnancy in a significant fraction of HIV-infected women. These results inform changes in host-pathogen interactions that lead to a directional shaping of viral populations and viral tropism during pregnancy, and provide insights into the biology of HIV transmission from mother to child.
Genotypic tropism testing by massively parallel sequencing: qualitative and quantitative analysis.
Däumer, Martin; Kaiser, Rolf; Klein, Rolf; Lengauer, Thomas; Thiele, Bernhard; Thielen, Alexander
2011-05-13
Inferring viral tropism from genotype is a fast and inexpensive alternative to phenotypic testing. While being highly predictive when performed on clonal samples, sensitivity of predicting CXCR4-using (X4) variants drops substantially in clinical isolates. This is mainly attributed to minor variants not detected by standard bulk-sequencing. Massively parallel sequencing (MPS) detects single clones thereby being much more sensitive. Using this technology we wanted to improve genotypic prediction of coreceptor usage. Plasma samples from 55 antiretroviral-treated patients tested for coreceptor usage with the Monogram Trofile Assay were sequenced with standard population-based approaches. Fourteen of these samples were selected for further analysis with MPS. Tropism was predicted from each sequence with geno2pheno[coreceptor]. Prediction based on bulk-sequencing yielded 59.1% sensitivity and 90.9% specificity compared to the trofile assay. With MPS, 7600 reads were generated on average per isolate. Minorities of sequences with high confidence in CXCR4-usage were found in all samples, irrespective of phenotype. When using the default false-positive-rate of geno2pheno[coreceptor] (10%), and defining a minority cutoff of 5%, the results were concordant in all but one isolate. The combination of MPS and coreceptor usage prediction results in a fast and accurate alternative to phenotypic assays. The detection of X4-viruses in all isolates suggests that coreceptor usage as well as fitness of minorities is important for therapy outcome. The high sensitivity of this technology in combination with a quantitative description of the viral population may allow implementing meaningful cutoffs for predicting response to CCR5-antagonists in the presence of X4-minorities.
Stankevičiūtė, Milda; Sauliutė, Gintarė; Svecevičius, Gintaras; Kazlauskienė, Nijolė; Baršienė, Janina
2017-10-01
Health impact of metal mixture at environment realistic concentrations are difficult to predict especially for long-term effects where cause-and-effect relationships may not be directly obvious. This study was aimed to evaluate metal mixture (Zn-0.1, Cu-0.01, Ni-0.01, Cr-0.01, Pb-0.005 and Cd-0.005 mg/L, respectively for 1, 2, 4, 7, 14 and 28 days at concentrations accepted for the inland waters in EU) genotoxicity (micronuclei, nuclear buds, nuclear buds on filament), cytotoxicity (8-shaped nuclei, fragmented-apoptotic erythrocytes), bioaccumulation, steady-state and the reference level of geno-cytotoxicity in hatchery-reared Atlantic salmon tissues. Metals accumulated mostly in gills and kidneys, to the lesser extent in the muscle. Uptake of metals from an entire mixture in the fish for 14 days is sufficient to reach steady-state Cr, Pb concentrations in all tissues; Zn, Cu-in kidneys and muscle, Ni-in liver, kidneys, muscle and Cd-in muscle. Treatment with metal mixture significantly increased summed genotoxicity levels at 7 days of exposure in peripheral blood and liver erythrocytes, at 14 days of exposure in gills and kidney erythrocytes. Significant elevation of cytotoxicity was detected after 2 and 14 days of exposure in gills erythrocytes and after 28 days-in peripheral blood erythrocytes. The amount of Cu, Cr, Pb and Cd accumulated in tissues was dependent upon duration of exposure; nuclear buds, 8-shaped nuclei frequencies also were dependent upon duration of exposure. This study indicates that metals at low levels when existing in mixture causes significant geno-cytotoxicity responses and metals bioaccumulation in salmon.
Pierpont, J W; St Jacques, D; Seaver, L H; Erickson, R P
1995-03-01
An unusual family with Waardenburg syndrome type 1 (WSI), cleft lip (palate), and Hirschsprung disease is not linked to the PAX 3 gene since there is an obligate crossover which has occurred between PAX 3 DNA markers and the disorder in this family. This family may also have anticipation of the WSI traits as the proband's grandmother is nonpenetrant, his mother has dystopia canthorum, and severe cleft lip (palate), while the proband has dystopia canthorum, severe cleft lip (palate), and Hirschsprung disease. Thus, a locus other than PAX 3 is implicated in this Waardenburg-like syndrome with Hirschsprung disease and cleft lip (palate).
Nontraditional Families and Childhood Progress Through School
ROSENFELD, MICHAEL J.
2010-01-01
I use U.S. census data to perform the first large-sample, nationally representative tests of outcomes for children raised by same-sex couples. The results show that children of same-sex couples are as likely to make normal progress through school as the children of most other family structures. Heterosexual married couples are the family type whose children have the lowest rates of grade retention, but the advantage of heterosexual married couples is mostly due to their higher socioeconomic status. Children of all family types (including children of same-sex couples) are far more likely to make normal progress through school than are children living in group quarters (such as orphanages and shelters). PMID:20879687
Complete genome sequence of Sanguibacter keddieii type strain (ST-74T)
DOE Office of Scientific and Technical Information (OSTI.GOV)
Ivanova, Natalia; Sikorski, Johannes; Sims, David
2009-05-20
Sanguibacter keddieii is the type species of the genus Sanguibacter, the only described genus within the family of Sanguibacteraceae. Phylogenetically, this family is located in the neighbourhood of the genus Oerskovia and the family Cellulomonadaceae within the actinobacterial suborder Micrococcineae. The strain described in this report was isolated from blood of apparently healthy cows. Here we describe the features of this organism, together with the complete genome sequence, and annotation. This is the first complete genome sequence of the family Sanguibacteraceae, and the 4,253,413 bp long single replicon genome with its 3735 protein-coding and 70 RNA genes is part ofmore » the Genomic Encyclopedia of Bacteria and Archaea project.« less
Parker, Elizabeth O; Chang, Jennifer; Thomas, Volker
2016-01-01
We examined the trends of quantitative research over the past 10 years in the Journal of Marital and Family Therapy (JMFT). Specifically, within the JMFT, we investigated the types and trends of research design and statistical analysis within the quantitative research that was published in JMFT from 2005 to 2014. We found that while the amount of peer-reviewed articles have increased over time, the percentage of quantitative research has remained constant. We discussed the types and trends of statistical analysis and the implications for clinical work and training programs in the field of marriage and family therapy. © 2016 American Association for Marriage and Family Therapy.
Social networks and health among older adults in Lebanon: the mediating role of support and trust.
Webster, Noah J; Antonucci, Toni C; Ajrouch, Kristine J; Abdulrahim, Sawsan
2015-01-01
Despite a growing body of literature documenting the influence of social networks on health, less is known in other parts of the world. The current study investigates this link by clustering characteristics of network members nominated by older adults in Lebanon. We then identify the degree to which various types of people exist within the networks. This study further examines how network composition as measured by the proportion of each type (i.e., type proportions) is related to health; and the mediating role of positive support and trust in this process. Data are from the Family Ties and Aging Study (2009). Respondents aged ≥60 were selected (N = 195) for analysis. Three types of people within the networks were identified: Geographically Distant Male Youth, Geographically Close/Emotionally Distant Family, and Close Family. Having more Geographically Distant Male Youth in one's network was associated with health limitations, whereas more Close Family was associated with no health limitations. Positive support mediated the link between type proportions and health limitations, whereas trust mediated the link between type proportions and depressive symptoms. Results document links between the social networks and health of older adults in Lebanon within the context of ongoing demographic transitions. © The Author 2014. Published by Oxford University Press on behalf of The Gerontological Society of America. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.
Dynamical evolution of V-type photometric candidates in the central and outer main belt asteroids
NASA Astrophysics Data System (ADS)
Carruba, V.; Huaman, M.
2014-07-01
V-type asteroids are associated with basaltic composition, and are supposed to be fragments of crust of differentiated objects. Most V-type asteroids in the main belt are found in the inner main belt, and are either current members of the Vesta dynamical family (Vestoids), or past members that drifted away. However, several V-type photometric candidates have been recently identified in the central and outer main belt. The origin of this large population of V-type objects is not well understood, since it seems unlikely that Vestoids crossing the 3:1 and 5:2 mean-motion resonance with Jupiter could account for the whole observed population. In this work, we investigated a possible origin of the bodies from local sources, such as the parent bodies of the Eunomia, Merxia, and Agnia asteroid families in the central main belt, and Dembowska, Eos and Magnya asteroid families in the outer main belt. Our results show that dynamical evolution from the parent bodies of the Eunomia and Merxia/Agnia families on timescales of 2 Gyr or more could be responsible for the current orbital location of most of the V-type photometric candidates in the central main belt. Studies for the outer main belt are currently in progress. by the FAPESP (grant 2011/19863-3) and CAPES (grant 15029-12-3) funding agencies.
Adaptive transmission disequilibrium test for family trio design.
Yuan, Min; Tian, Xin; Zheng, Gang; Yang, Yaning
2009-01-01
The transmission disequilibrium test (TDT) is a standard method to detect association using family trio design. It is optimal for an additive genetic model. Other TDT-type tests optimal for recessive and dominant models have also been developed. Association tests using family data, including the TDT-type statistics, have been unified to a class of more comprehensive and flexable family-based association tests (FBAT). TDT-type tests have high efficiency when the genetic model is known or correctly specified, but may lose power if the model is mis-specified. Hence tests that are robust to genetic model mis-specification yet efficient are preferred. Constrained likelihood ratio test (CLRT) and MAX-type test have been shown to be efficiency robust. In this paper we propose a new efficiency robust procedure, referred to as adaptive TDT (aTDT). It uses the Hardy-Weinberg disequilibrium coefficient to identify the potential genetic model underlying the data and then applies the TDT-type test (or FBAT for general applications) corresponding to the selected model. Simulation demonstrates that aTDT is efficiency robust to model mis-specifications and generally outperforms the MAX test and CLRT in terms of power. We also show that aTDT has power close to, but much more robust, than the optimal TDT-type test based on a single genetic model. Applications to real and simulated data from Genetic Analysis Workshop (GAW) illustrate the use of our adaptive TDT.
Predictors of school engagement among same-sex and heterosexual adoptive parents of Kindergarteners.
Goldberg, Abbie E; Smith, JuliAnna Z
2014-10-01
Little research has explored parental engagement in schools in the context of adoptive parent families or same-sex parent families. The current cross-sectional study explored predictors of parents' self-reported school involvement, relationships with teachers, and school satisfaction, in a sample of 103 female same-sex, male same-sex, and heterosexual adoptive parent couples (196 parents) of kindergarten-age children. Parents who reported more contact by teachers about positive or neutral topics (e.g., their child's good grades) reported more involvement and greater satisfaction with schools, regardless of family type. Parents who reported more contact by teachers about negative topics (e.g., their child's behavior problems) reported better relationships with teachers but lower school satisfaction, regardless of family type. Regarding the broader school context, across all family types, parents who felt more accepted by other parents reported more involvement and better parent-teacher relationships; socializing with other parents was related to greater involvement. Regarding the adoption-specific variables, parents who perceived their children's schools as more culturally sensitive were more involved and satisfied with the school, regardless of family type. Perceived cultural sensitivity mattered more for heterosexual adoptive parents' relationships with their teachers than it did for same-sex adoptive parents. Finally, heterosexual adoptive parents who perceived high levels of adoption stigma in their children's schools were less involved than those who perceived low levels of stigma, whereas same-sex adoptive parents who perceived high levels of stigma were more involved than those who perceived low levels of stigma. Our findings have implications for school professionals, such as school psychologists, who work with diverse families. Copyright © 2014 Society for the Study of School Psychology. Published by Elsevier Ltd. All rights reserved.
Goldberg, Abbie E.; Smith, JuliAnna Z.
2014-01-01
Little research has explored parental engagement in schools in the context of adoptive parent families or same-sex parent families. The current cross-sectional study explored predictors of parents’ self-reported school involvement, relationships with teachers, and school satisfaction, in a sample of 103 female same-sex, male same-sex, and heterosexual adoptive parent couples (196 parents) of kindergarten-age children. Parents who reported more contact by teachers about positive or neutral topics (e.g., their child’s good grades) reported more involvement and greater satisfaction with schools, regardless of family type. Parents who reported more contact by teachers about negative topics (e.g., their child’s behavior problems) reported better relationships with teachers but lower school satisfaction, regardless of family type. Regarding the broader school context, across all family types, parents who felt more accepted by other parents reported more involvement and better parent–teacher relationships; socializing with other parents was related to greater involvement. Regarding the adoption-specific variables, parents who perceived their children’s schools as more culturally sensitive were more involved and satisfied with the school, regardless of family type. Perceived cultural sensitivity mattered more for heterosexual adoptive parents’ relationships with their teachers than it did for same-sex adoptive parents. Finally, heterosexual adoptive parents who perceived high levels of adoption stigma in their children’s schools were less involved than those who perceived low levels of stigma, whereas same-sex adoptive parents who perceived high levels of stigma were more involved than those who perceived low levels of stigma. Our findings have implications for school professionals, such as school psychologists, who work with diverse families. PMID:25267169
Mackey, Eleanor Race; Hilliard, Marisa E; Berger, Sarah Shafer; Streisand, Randi; Chen, Rusan; Holmes, Clarissa
2011-12-01
We examined the association of youths' positive qualities, family cohesion, disease management, and metabolic control in Type 1 diabetes. Two-hundred fifty-seven youth-parent dyads completed the Family Cohesion subscale of the Family Environment Scale, the Diabetes Behavior Rating Scale, 24-hour diabetes interview, and youth completed the Positive Qualities subscale of the Youth Self Report (YSR-PQ). Structural equation modeling demonstrated that YSR-PQ scores were associated with metabolic control mediated by associations with more family cohesion and better disease management. That is, youth with higher YSR-PQ scores had more cohesive families, better disease management, and, indirectly, better metabolic control. Family cohesion was indirectly associated with better metabolic control mediated by its association with better disease management, but not mediated by its association with YSR-PQ scores. Youth who reported more positive qualities, as measured by the YSR-PQ subscale, had better disease management and metabolic control through the association with more family cohesion. However, the current results did not support an alternative hypothesis that cohesive families display better diabetes management mediated by higher YSR-PQ scores.
Risky sexual behaviour among unmarried young people in Cameroon: another look at family environment.
Dimbuene, Zacharie Tsala; Defo, Barthelemy Kuate
2011-03-01
Most studies of the association between family structure and risky sexual behaviour among adolescents and young adults have employed a risk perspective which assumes that, compared with other types, two-parent families are protective. Drawing from a positive-oriented approach in this study, it is hypothesized that within each family type some influential factors may mitigate such anticipated deleterious effects of non-intact families and decrease sexual risk-taking. The paper examines specifically the effects of risk and protective factors with an emphasis on family processes associated with resilience, using data from a pooled sample of 1025 females and males aged 12-24 years from Bandjoun (West Cameroon). Findings show that the quality of parent/guardian-youth relationships significantly decreases the odds of risky sexual behaviour by 36%, 65% and 50% in neither-, one- and two-parent families, respectively. For two-parent families only, parental control acts as a significant protective factor; it decreased by 41% the odds of risky sexual behaviour. Programmatically, protective family factors such as parent/guardian-youth interactions need to be promoted to improve the efficiency of reproductive health and HIV interventions in sub-Saharan Africa.
Mayberry, Lindsay Satterwhite; Harper, Kryseana J.; Osborn, Chandra Y.
2016-01-01
Objectives Diabetes-specific family behaviors are associated with self-care and glycemic control among adults with type 2 diabetes (T2D). Formative research is needed to inform the assessments of these behaviors and interventions to address obstructive family behaviors (sabotaging and nagging/arguing), particularly among racial/ethnic minorities and low-income adults struggling most with self-care adherence. Methods We conducted a mixed-methods study with adults with T2D at a Federally Qualified Health Center to better understand experiences with diabetes-specific family behaviors and willingness to engage family members in diabetes interventions. Participants completed a phone survey (N=53) and/or attended a focus group (n=15). Results Participants were 70% African American and had low socioeconomic status (96% annual income <$20K, 51% uninsured). Although 62% lived with family members, only 48% lived with the person providing the most diabetes-specific support. Participants’ family living situations were diverse and multigenerational. Most (64%) experienced both supportive and obstructive family behaviors from the same person(s).Some participants (40%) said engaging family in interventions would positively affect all members; others (27%) did not want to involve family. Discussion Findings can inform the design and content of interventions targeting family involvement in adults’ T2D, with implications for assessing family behaviors, intervention modalities, and who to engage. PMID:27099387
Victimization experiences of adolescents in Malaysia.
Choo, Wan-Yuen; Dunne, Michael P; Marret, Mary J; Fleming, Marylou; Wong, Yut-Lin
2011-12-01
There has been little community-based research regarding multiple-type victimization experiences of young people in Asia, and none in Malaysia. This study aimed to estimate prevalence, explore gender differences, as well as describe typical perpetrators and family and social risk factors among Malaysian adolescents. A cross-sectional survey of 1,870 students was conducted in 20 randomly selected secondary schools in Selangor state (mean age: 16 years; 58.8% female). The questionnaire included items on individual, family, and social background and different types of victimization experiences in childhood. Emotional and physical types of victimization were most common. A significant proportion of adolescents (22.1%) were exposed to more than one type, with 3% reporting all four types. Compared with females, males reported more physical, emotional, and sexual victimization. The excess of sexual victimization among boys was due to higher exposure to noncontact events, whereas prevalence of forced intercourse was equal for both genders (3.0%). Although adult male perpetrators predominate, female adults and peers of both genders also contribute substantially. Low quality of parent-child relationships and poor school and neighborhood environments had the strongest associations with victimization. Family structure (parental divorce, presence of step-parent or single parent, or household size), parental drug use, and rural/urban location were not influential in this sample. This study extends the analysis of multiple-type victimization to a Malaysian population. Although some personal, familial, and social factors correlate with those found in western nations, there are cross-cultural differences, especially with regard to the nature of sexual violence based on gender and the influence of family structure. Copyright © 2011 Society for Adolescent Health and Medicine. Published by Elsevier Inc. All rights reserved.
Lozano, Carmen; Aspiroz, Carmen; Lasarte, Juan J; Gómez-Sanz, Elena; Zarazaga, Myriam; Torres, Carmen
2011-01-01
Nasal colonization by methicillin-resistant Staphylococcus aureus (MRSA) was evaluated after a mupirocin treatment in a family previously colonized by MRSA sequence type ST398 and ST1, who lived close to a pig farm. Eight nasal samples were swabbed from each of the four family members on different moments after mupirocin treatment. The efficacy of treatment was low in those family members who worked in the farm, and higher in the remaining two family members with sporadic contact with pigs. In addition, nasal and skin swabs from randomly selected pigs of the farm were taken. MRSA were detected in 33% of pigs tested. All MRSA isolates obtained were characterized by Staphylococcal-Cassette-Chromosome mec (SCCmec) determination, Multilocus-Sequence-Typing (MLST), spa- and agr-typing, Pulsed-field-gel-electrophoresis (PFGE), antimicrobial susceptibility, detection of antimicrobial resistance genes, and toxin gene profiling. Spa-types t011, t1255 and t1197 were detected in humans and animals, with indistinguishable PFGE patterns, suggesting animal to human MRSA transmission. Each spa-type was ascribed to a specific pulsotype. Spa-types t127 and t108 were only detected in MRSA isolates obtained from humans, and t012 only in those from animals. MRSA ST1-t127 isolates and some ST398-t011 and ST398-t1197 isolates presented a multiantimicrobial-resistance phenotype. None of them harbored lukF/lukS, tst, eta and etb virulence genes. This study showed that the efficacy of nasal MRSA decolonization in healthy people with very close contact with pigs is especially low. Copyright © 2010 Elsevier Ltd. All rights reserved.
ERIC Educational Resources Information Center
Frazier, Billie H.; Hayes, Kathleen C.
This publication is part of an ongoing project which produces bibliographies on family topics. This bibliography, begun in July 1993, is a compilation of selected materials on a type of family violence which receives little attention. When all types of mild aggression and extreme violence toward a sibling are considered, it appears that sibling…
20 CFR 404.716 - Type of evidence of age to be given.
Code of Federal Regulations, 2014 CFR
2014-04-01
... DISABILITY INSURANCE (1950- ) Evidence Evidence of Age, Marriage, and Death § 404.716 Type of evidence of age... date of birth or age at a certain time such as: an original family bible or family record; school...; insurance policies; a marriage record; a passport; an employment record; a delayed birth certificate, your...
20 CFR 404.716 - Type of evidence of age to be given.
Code of Federal Regulations, 2013 CFR
2013-04-01
... DISABILITY INSURANCE (1950- ) Evidence Evidence of Age, Marriage, and Death § 404.716 Type of evidence of age... date of birth or age at a certain time such as: an original family bible or family record; school...; insurance policies; a marriage record; a passport; an employment record; a delayed birth certificate, your...
20 CFR 404.716 - Type of evidence of age to be given.
Code of Federal Regulations, 2011 CFR
2011-04-01
... DISABILITY INSURANCE (1950- ) Evidence Evidence of Age, Marriage, and Death § 404.716 Type of evidence of age... date of birth or age at a certain time such as: an original family bible or family record; school...; insurance policies; a marriage record; a passport; an employment record; a delayed birth certificate, your...
20 CFR 404.716 - Type of evidence of age to be given.
Code of Federal Regulations, 2012 CFR
2012-04-01
... DISABILITY INSURANCE (1950- ) Evidence Evidence of Age, Marriage, and Death § 404.716 Type of evidence of age... date of birth or age at a certain time such as: an original family bible or family record; school...; insurance policies; a marriage record; a passport; an employment record; a delayed birth certificate, your...
ERIC Educational Resources Information Center
Weinraub, Marsha; And Others
1984-01-01
The onset and development of preschoolers' awareness of sex role stereotypes, gender labeling, gender identity, and sex-typed toy preference were explored in 26-, 31-, and 36-month-old children. Family characteristics that affect early sex role development also were investigated. (Author/RH)
ERIC Educational Resources Information Center
Gamble, Wendy C.; Yu, Jeong Jin
2014-01-01
Research Findings: This study examines patterns of sibling relationship qualities or interactional types and their association with family characteristics, parenting, and the characteristics of 1 of those children. Participants were 65 children (34 boys; Time 1 mean age = 51 months), their mothers, fathers, and Head Start teachers. Approximately…
Exploring Type and Amount of Parent Talk during Individualized Family Service Plan Meetings
ERIC Educational Resources Information Center
Ridgley, Robyn; Snyder, Patricia; McWilliam, R. A.
2014-01-01
We discuss the utility of a coding system designed to evaluate the amount and type of parent talk during individualized family service plan (IFSP) meetings. The iterative processes used to develop the "Parent Communication Coding System" (PCCS) and its associated codes are described. In addition, we explored whether PCCS codes could be…
Hereditary motor and sensory neuropathy type VI with optic atrophy.
Voo, Irene; Allf, Bryan E; Udar, Nitin; Silva-Garcia, Rosamaria; Vance, Jeffrey; Small, Kent W
2003-10-01
To present the detailed clinical findings of a large family with hereditary motor and sensory neuropathy type VI (HMSN VI), a syndrome featuring optic atrophy. Observational case series. A detailed history was obtained and physical examination was made of the extended family of the proband for evidence of neurologic dysfunction. The OPA1 gene was screened for mutations by direct DNA sequencing. Twelve of 97 family members examined are affected with signs of HMSN VI. Three other members have either optic atrophy or peripheral neuropathy, thus allowing an appreciation of the full clinical spectrum of disease. No mutations were found in the OPA1 gene. This family demonstrates the variable expressivity of this disorder as well as incomplete penetrance. This is the largest known family with HMSN VI. No association was found with changes in the OPA1 gene.
Neumark-Sztainer, Dianne; MacLehose, Rich; Loth, Katie; Fulkerson, Jayne A; Eisenberg, Marla E; Berge, Jerica
2014-01-01
To examine the types of food served at family dinner in the homes of adolescents and correlations with parent and family sociodemographic characteristics, psychosocial factors and meal-specific variables. A cross-sectional population-based survey completed by mail or telephone by parents participating in Project F-EAT (Families and Eating and Activity in Teens) in 2009-2010. Homes of families with adolescents in Minneapolis/St. Paul urban area, MN, USA. Participants included 1923 parents/guardians (90·8% female; 68·5% from ethnic/racial minorities) of adolescents who participated in EAT 2010. Less than a third (28%) of parents reported serving a green salad at family dinner on a regular basis, but 70% reported regularly serving vegetables (other than potatoes). About one-fifth (21%) of families had fast food at family dinners two or more times per week. Variables from within the sociodemographic domain (low educational attainment) psychosocial domain (high work-life stress, depressive symptoms, low family functioning) and meal-specific domain (low value of family meals, low enjoyment of cooking, low meal planning, high food purchasing barriers and fewer hours in food preparation) were associated with lower healthfulness of foods served at family dinners, in analyses adjusted for sociodemographic characteristics. There is a need for interventions to improve the healthfulness of food served at family meals. Interventions need to be suitable for parents with low levels of education; take parent and family psychosocial factors into account; promote more positive attitudes toward family meals; and provide skills to make it easier to plan and prepare healthful family meals.
Children of Working Mothers, March 1973. Special Labor Force Report No. 165.
ERIC Educational Resources Information Center
Waldman, Elizabeth; Whitmore, Robert
A special labor force report, the pamphlet provides statistics related to the children of working mothers: type of family, number of children under 18, race, number of children in broken families, work experience of family head, and family income. Although the number of children in the population has declined, the number of children with working…
Family Literacy: Community & Family Life Materials. A Guide to Recent and Recommended Books.
ERIC Educational Resources Information Center
Lane, Martha A.; And Others
The books in this family literacy guide are listed alphabetically by title in each of three sections. The author, publisher, copyright date, reading level, type of book, number of pages, International Standard Book Number, price, and annotation comprise each entry. The topic of the family contains 11 titles: "Angry Feelings"; "Beginning with…
Adoptive Gay Father Families: Parent-Child Relationships and Children's Psychological Adjustment
ERIC Educational Resources Information Center
Golombok, Susan; Mellish, Laura; Jennings, Sarah; Casey, Polly; Tasker, Fiona; Lamb, Michael E.
2014-01-01
Findings are presented on a U.K. study of 41 gay father families, 40 lesbian mother families, and 49 heterosexual parent families with an adopted child aged 3-9 years. Standardized interview and observational and questionnaire measures of parental well-being, quality of parent-child relationships, child adjustment, and child sex-typed behavior…
Xu, Wenjun; Dai, Hanjun; Lu, Tingting; Zhang, Xiaohui; Dong, Bing; Li, Yang
2011-01-01
To describe the clinical and genetic findings in one Chinese family with autosomal recessive retinitis pigmentosa (arRP) and in three unrelated Chinese families with Usher syndrome type II (USH2). One family (FR1) with arRP and three unrelated families (F6, F7, and F8) with Usher syndrome (USH), including eight affected members and seven unaffected family individuals were examined clinically. The study included 100 normal Chinese individuals as normal controls. After obtaining informed consent, peripheral blood samples from all participants were collected and genomic DNA was extracted. Genotyping and haplotyping analyses were performed on the known genetic loci for arRP with a panel of polymorphic markers in family FR1. In all four families, the coding region (exons 2-72), including the intron-exon boundary of the USH2A (Usher syndrome type -2A protein) gene, was screened by PCR and direct DNA sequencing. Whenever substitutions were identified in a patient, a restriction fragment length polymorphism (RFLP) analysis, single strand conformation polymorphism (SSCP) analysis, or high resolution melt curve analysis (HRM) was performed on all available family members and on the 100 normal controls. The affected individuals presented with typical fundus features of retinitis pigmentosa (RP), including narrowing of the vessels, bone-spicule pigmentation, and waxy optic discs. The electroretinogram (ERG) wave amplitudes of the available probands were undetectable. Audiometric tests in the affected individuals in family FR1 were normal, while indicating moderate to severe sensorineural hearing impairment in the affected individuals in families F6, F7, and F8. Vestibular function was normal in all patients from all four families. The disease-causing gene in family FR1 was mapped to the USH2A locus on chromosome 1q41. Seven novel mutations (two missenses, one 7-bp deletion, two small deletions, and two nonsenses) were detected in the four families after sequencing analysis of USH2A. The results further support that mutations of USH2A are also responsible for non-syndromic RP. The mutation spectrum among Chinese patients might differ from that among European Caucasians.
Fragile Families and Child Wellbeing
Waldfogel, Jane; Craigie, Terry-Ann; Brooks-Gunn, Jeanne
2011-01-01
Summary Jane Waldfogel, Terry-Ann Craigie, and Jeanne Brooks-Gunn review recent studies that use data from the Fragile Families and Child Wellbeing Study (FFCWS) to examine why children who grow up in single-mother and cohabiting families fare worse than children born into married-couple households. They also present findings from their own new research. Analysts have investigated five key pathways through which family structure might influence child well-being: parental resources, parental mental health, parental relationship quality, parenting quality, and father involvement. It is also important to consider the role of the selection of different types of men and women into different family types, as well as family stability. But analysts remain uncertain how each of these elements shapes children's outcomes. In addition to providing an overview of findings from other studies using FFCWS, Waldfogel, Craigie, and Brooks-Gunn report their own estimates of the effect of a consistently defined set of family structure and stability categories on cognitive, behavioral, and health outcomes of children in the FFCWS study at age five. The authors find that the links between fragile families and child outcomes are not uniform. Family instability, for example, seems to matter more than family structure for cognitive and health outcomes, whereas growing up with a single mother (whether that family structure is stable or unstable over time) seems to matter more than instability for behavior problems. Overall, their results are consistent with other research findings that children raised by stable single or cohabiting parents are at less risk than those raised by unstable single or cohabiting parents. The authors conclude by pointing to three types of policy reforms that could improve outcomes for children. The first is to reduce the share of children growing up in fragile families (for example, through reducing the rate of unwed births or promoting family stability among unwed parents). The second is to address the pathways that place such children at risk (for example, through boosting resources in single-parent homes or fostering father involvement in fragile families). The third is to address directly the risks these children face (for example, through high-quality early childhood education or home-visiting policies). PMID:20964133
Inheritance pattern of lip prints among Malay population: A pilot study.
George, Renjith; Nora Afandi, Nurulain Syafinaz Binti; Zainal Abidin, Siti Nur Hayati Binti; Binti Ishak, Nur Ismawani; Soe, Htoo Htoo Kyaw; Ismail, Abdul Rashid Hj
2016-04-01
We assessed the resemblance of lip print patterns between parents and biological offspring in families of 31 Malay students as well as the distribution of different types of lip print in the study group. Only a few studies have successfully established the inheritance pattern of lip prints. Such studies can be population specific and need to be conducted in various populations. No such study have been conducted in Malay population in Malaysia, according to our knowledge. Present study was carried out to ascertain whether there is any inherence pattern in lip prints and thereby to investigate the potential role of lip prints in personal identification. We found 58.06% resemblance of lip print patterns between the parents and their biological offspring in our study. The influence of heredity in lip print pattern is still a new concept and there is lack of concrete evidence. The data from our study shows that there is potential influence of inheritance in the lip print patterns among the family members. Further researches involving larger samples size are suggested to derive more reliable and accurate results. The most common lip print pattern among the study group is type I (29.84%) followed by type II (23.12%), type III (22.45%), type I' (13.44%), type IV (9.54%) and type V (1.61%). Racial variations in lip print patterns and their prevalence may serve as an aid in forensic identification and crime scene investigation. The results of this pilot study will help in establishing guidelines for future researches on lip print analysis in Malaysia. Lip print patterns are unique and individualistic. However, there are some similarities in basic patterns of lip prints between family members which may be attributed to influence of inheritance. 1. To determine the inheritance pattern of lip prints among Malay family members of the student. 2. To identify the distribution of different types of lip prints among Malay population. and Observational pilot study. Lip prints of 124 individuals from 31 families consisting of father, mother and two children were recorded and classified based on Tsuchihashi Classification (1974). Statistical analysis was performed for resemblance pattern among family members (Karl-Pearson Correlation Coefficient) and inter-observer variability (Kappa test). 58.06% positive resemblance was found between parents and biological offspring. The highest lip print pattern in the study group was type I (29.84%) and the least was type V (1.61%). There is positive resemblance in lip print patterns among family members which may be attributed to influence of inheritance. However, further studies with larger sample sizes need to be conducted to confirm the results. Type I lip print was the most prevalent pattern among the study subjects. Copyright © 2016 Elsevier Ltd and Faculty of Forensic and Legal Medicine. All rights reserved.
ERIC Educational Resources Information Center
Goodluck, Charlotte Tsoi
This training manual demonstrates the utilization of two family assessment tools with American Indian rehabilitation clients. The manual begins with an overview of general systems theory, family systems theory, and family assessment theory. The genogram is then defined as a type of family tree covering at least three generations, offering a map of…
Common familial risk factors for schizophrenia and diabetes mellitus.
Foley, Debra L; Mackinnon, Andrew; Morgan, Vera A; Watts, Gerald F; Castle, David J; Waterreus, Anna; Galletly, Cherrie A
2016-05-01
The co-occurrence of type 2 diabetes and psychosis is an important form of medical comorbidity within individuals, but no large-scale study has evaluated comorbidity within families. The aim of this study was to determine whether there is evidence for familial comorbidity between type 2 diabetes and psychosis. Data were analysed from an observational study of a nationally representative sample of 1642 people with psychosis who were in contact with psychiatric services at the time of survey (The 2010 Australian National Survey of Psychosis). Participants were aged 18-64 years and met World Health Organization's International Classification of Diseases, 10th Revision diagnostic criteria for a psychotic disorder (857 with schizophrenia, 319 with bipolar disorder with psychotic features, 293 with schizoaffective disorder, 81 with depressive psychosis and 92 with delusional disorder or other non-organic psychoses). Logistic regression was used to estimate the association between a family history of diabetes and a family history of schizophrenia. A positive family history of diabetes was associated with a positive family history of schizophrenia in those with a psychotic disorder (odds ratio = 1.35, p = 0.01, adjusted for age and gender). The association was different in those with an affective versus non-affective psychosis (odds ratio = 0.613, p = 0.019, adjusted for age and gender) and was significant only in those with a non-affective psychosis, specifically schizophrenia (odds ratio = 1.58, p = 0.005, adjusted for age and sex). Adjustment for demographic factors in those with schizophrenia slightly strengthened the association (odds ratio = 1.74, p = 0.001, adjusted for age, gender, diagnosis, ethnicity, education, employment, income and marital status). Elevated risk for type 2 diabetes in people with schizophrenia is not simply a consequence of antipsychotic medication; type 2 diabetes and schizophrenia share familial risk factors. © The Royal Australian and New Zealand College of Psychiatrists 2015.
Spectral analysis of a family of binary inflation rules
NASA Astrophysics Data System (ADS)
Baake, Michael; Grimm, Uwe; Mañibo, Neil
2018-01-01
The family of primitive binary substitutions defined by 1 \\mapsto 0 \\mapsto 0 1^m with m\\in N is investigated. The spectral type of the corresponding diffraction measure is analysed for its geometric realisation with prototiles (intervals) of natural length. Apart from the well-known Fibonacci inflation (m=1 ), the inflation rules either have integer inflation factors, but non-constant length, or are of non-Pisot type. We show that all of them have singular diffraction, either of pure point type or essentially singular continuous.
1994-09-01
wife, Margie, for her patience and understanding. Graduate school definitely affects the family . Margie allowed me to use many valuable family hours...Consolidations and reorganizations, in which the face of logistics is changing day -by- day , are taking place throughout the Department of Defense. Two...will focus on Type IV F-15 and Type IV F-16 PMELs. Imporane of Research The two-level maintenance concept significantly alters the structure of
Pamungkas, Rian Adi; Chamroonsawasdi, Kanittha; Vatanasomboon, Paranee
2017-09-15
The rate of type-2 diabetes mellitus (T2D) is dramatically increasing worldwide. Continuing diabetes mellitus (DM) care needs effective self-management education and support for both patients and family members. This study aimed to review and describe the impacts of diabetes mellitus self-management education (DSME) that involve family members on patient outcomes related to patient health behaviors and perceived self-efficacy on self-management such as medication adherence, blood glucose monitoring, diet and exercise changes, health outcomes including psychological well-being and self-efficacy, and physiological markers including body mass index, level of blood pressure, cholesterol level and glycemic control. Three databases, PubMed, CINAHL, and Scopus were reviewed for relevant articles. The search terms were "type 2 diabetes," "self-management," "diabetes self-management education (DSME)," "family support," "social support," and "uncontrolled glycaemia." Joanna Briggs Institute (JBI) guidelines were used to determine which studies to include in the review. Details of the family support components of DSME intervention and the impacts of these interventions had on improving the health outcomes patients with uncontrolled glycaemia patients. A total of 22 intervention studies were identified. These studies involved different DSME strategies, different components of family support provided, and different health outcomes to be measured among T2D patients. Overall, family support had a positive impact on healthy diet, increased perceived support, higher self-efficacy, improved psychological well-being and better glycemic control. This systematic review found evidence that DSME with family support improved self-management behaviors and health outcomes among uncontrolled glycaemia T2D patients. The findings suggest DSME models that include family engagement can be a useful direction for improving diabetes care.
Schooreel, Tess; Verbruggen, Marijke
2016-01-01
This study uses a dyadic approach to examine how an employee's work-family conflict is affected when his or her partner makes use of family-friendly work arrangements. We focused on 2 types of family-friendly practices, that is, reduced work hours and schedule or workplace flexibility. Hypotheses were tested with multilevel structural equation modeling using information of 186 dual-earner couples. In line with our hypotheses, we found support for both a positive and a negative crossover effect, though the results showed differences between the 2 types of family-friendly work arrangements. First, a positive crossover effect was found for both reduced work hours and schedule or workplace flexibility; however, the specific mechanisms explaining this effect differed per type of arrangements. In particular, employees whose partner made use of reduced work hours were found to experience less home demands, which was in turn associated with lower family-to-work conflict, whereas employees whose partner made use of schedule or workplace flexibility experienced a similar positive crossover effect but through an increase in the social support they perceived. Second, a negative crossover effect was found only for reduced work hours and not for schedule or workplace flexibility. Specifically, employees whose partner made use of reduced work hours were found to work on average more hours a week, which was in turn related with more work-to-family conflict, whereas employees whose partner made use of schedule or workplace flexibility worked on average fewer hours a week and consequently experienced lower work-to-family conflict. Implications for literature and practice are discussed. (c) 2016 APA, all rights reserved).
Coté, Michele L.; Liu, Mei; Bonassi, Stefano; Neri, Monica; Schwartz, Ann G.; Christiani, David C.; Spitz, Margaret R.; Muscat, Joshua E.; Rennert, Gad; Aben, Katja K.; Andrew, Angeline S.; Bencko, Vladimir; Bickeböller, Heike; Boffetta, Paolo; Brennan, Paul; Brenner, Hermann; Duell, Eric J.; Fabianova, Eleonora; Field, John K.; Foretova, Lenka; Friis, Søren; Harris, Curtis C.; Holcatova, Ivana; Hong, Yun-Chul; Isla, Dolores; Janout, Vladimir; Kiemeney, Lambertus A.; Kiyohara, Chikako; Lan, Qing; Lazarus, Philip; Lissowska, Jolanta; Marchand, Loic Le; Mates, Dana; Matsuo, Keitaro; Mayordomo, Jose I.; McLaughlin, John R.; Morgenstern, Hal; Müeller, Heiko; Orlow, Irene; Park, Bernard J.; Pinchev, Mila; Raji, Olaide Y.; Rennert, Hedy S.; Rudnai, Peter; Seow, Adeline; Stucker, Isabelle; Szeszenia-Dabrowska, Neonila; Teare, M. Dawn; Tjønnelan, Anne; Ugolini, Donatella; van der Heijden, Henricus F.M.; Wichmann, Erich; Wiencke, John K.; Woll, Penella J.; Yang, Ping; Zaridze, David; Zhang, Zuo-Feng; Etzel, Carol J.; Hung, Rayjean J.
2012-01-01
Background and Methods Familial aggregation of lung cancer exists after accounting for cigarette smoking. However, the extent to which family history affects risk by smoking status, histology, relative type and ethnicity is not well described. This pooled analysis included 24 case-control studies in the International Lung Cancer Consortium. Each study collected age of onset/interview, gender, race/ethnicity, cigarette smoking, histology and first-degree family history of lung cancer. Data from 24,380 lung cancer cases and 23,305 healthy controls were analyzed. Unconditional logistic regression models and generalized estimating equations were used to estimate odds ratios and 95% confidence intervals. Results Individuals with a first-degree relative with lung cancer had a 1.51-fold increase in risk of lung cancer, after adjustment for smoking and other potential confounders(95% CI: 1.39, 1.63). The association was strongest for those with a family history in a sibling, after adjustment (OR=1.82, 95% CI: 1.62, 2.05). No modifying effect by histologic type was found. Never smokers showed a lower association with positive familial history of lung cancer (OR=1.25, 95% CI: 1.03, 1.52), slightly stronger for those with an affected sibling (OR=1.44, 95% CI: 1.07, 1.93), after adjustment. Conclusions The increased risk among never smokers and similar magnitudes of the effect of family history on lung cancer risk across histological types suggests familial aggregation of lung cancer is independent of those associated with cigarette smoking. While the role of genetic variation in the etiology of lung cancer remains to be fully characterized, family history assessment is immediately available and those with a positive history represent a higher risk group. PMID:22436981
Pamungkas, Rian Adi; Chamroonsawasdi, Kanittha; Vatanasomboon, Paranee
2017-01-01
The rate of type-2 diabetes mellitus (T2D) is dramatically increasing worldwide. Continuing diabetes mellitus (DM) care needs effective self-management education and support for both patients and family members. This study aimed to review and describe the impacts of diabetes mellitus self-management education (DSME) that involve family members on patient outcomes related to patient health behaviors and perceived self-efficacy on self-management such as medication adherence, blood glucose monitoring, diet and exercise changes, health outcomes including psychological well-being and self-efficacy, and physiological markers including body mass index, level of blood pressure, cholesterol level and glycemic control. Three databases, PubMed, CINAHL, and Scopus were reviewed for relevant articles. The search terms were “type 2 diabetes,” “self-management,” “diabetes self-management education (DSME),” “family support,” “social support,” and “uncontrolled glycaemia.” Joanna Briggs Institute (JBI) guidelines were used to determine which studies to include in the review. Details of the family support components of DSME intervention and the impacts of these interventions had on improving the health outcomes patients with uncontrolled glycaemia patients. A total of 22 intervention studies were identified. These studies involved different DSME strategies, different components of family support provided, and different health outcomes to be measured among T2D patients. Overall, family support had a positive impact on healthy diet, increased perceived support, higher self-efficacy, improved psychological well-being and better glycemic control. This systematic review found evidence that DSME with family support improved self-management behaviors and health outcomes among uncontrolled glycaemia T2D patients. The findings suggest DSME models that include family engagement can be a useful direction for improving diabetes care. PMID:28914815
Low zinc in drinking water is associated with the risk of type 1 diabetes in children.
Samuelsson, Ulf; Oikarinen, Sami; Hyöty, Heikki; Ludvigsson, Johnny
2011-05-01
To explore if drinking water may influence the development of type 1 diabetes in children, either via enterovirus spread via drinking water or quality of drinking water related to acidity or concentration of certain minerals. One hundred and forty-two families with a child with diabetes and who lived either in seven municipalities with a high annual diabetes incidence during 1977-2001 and in six municipalities with the lowest incidence during those 25 yr were asked to participate. Three hundred and seventy-three families in these communities were used as controls. The families filled a 200-mL plastic bottle with their tap drinking water and returned it by mail. The water samples were analyzed for pH, zinc, iron, nitrate, nitrite, nitrate-nitrogen and nitrite-nitrogen, and occurrence of enterovirus RNA. Enterovirus RNA was not found in the tap water samples. The concentration of zinc, nitrate, and nitrate-nitrogen was lower in the municipalities with high incidence of type 1 diabetes. The water samples from families with a child with diabetes had lower concentration of zinc than water samples from control families. Low zinc in drinking water is associated with the risk of developing type 1 diabetes during childhood. Enterovirus does not seem to be spread via drinking water in a country with modern water works. © 2010 John Wiley & Sons A/S.