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Sample records for psychiatric gwas consortium

  1. The Psychiatric Genomics Consortium Posttraumatic Stress Disorder Workgroup: Posttraumatic Stress Disorder Enters the Age of Large-Scale Genomic Collaboration.

    Science.gov (United States)

    Logue, Mark W; Amstadter, Ananda B; Baker, Dewleen G; Duncan, Laramie; Koenen, Karestan C; Liberzon, Israel; Miller, Mark W; Morey, Rajendra A; Nievergelt, Caroline M; Ressler, Kerry J; Smith, Alicia K; Smoller, Jordan W; Stein, Murray B; Sumner, Jennifer A; Uddin, Monica

    2015-09-01

    The development of posttraumatic stress disorder (PTSD) is influenced by genetic factors. Although there have been some replicated candidates, the identification of risk variants for PTSD has lagged behind genetic research of other psychiatric disorders such as schizophrenia, autism, and bipolar disorder. Psychiatric genetics has moved beyond examination of specific candidate genes in favor of the genome-wide association study (GWAS) strategy of very large numbers of samples, which allows for the discovery of previously unsuspected genes and molecular pathways. The successes of genetic studies of schizophrenia and bipolar disorder have been aided by the formation of a large-scale GWAS consortium: the Psychiatric Genomics Consortium (PGC). In contrast, only a handful of GWAS of PTSD have appeared in the literature to date. Here we describe the formation of a group dedicated to large-scale study of PTSD genetics: the PGC-PTSD. The PGC-PTSD faces challenges related to the contingency on trauma exposure and the large degree of ancestral genetic diversity within and across participating studies. Using the PGC analysis pipeline supplemented by analyses tailored to address these challenges, we anticipate that our first large-scale GWAS of PTSD will comprise over 10 000 cases and 30 000 trauma-exposed controls. Following in the footsteps of our PGC forerunners, this collaboration-of a scope that is unprecedented in the field of traumatic stress-will lead the search for replicable genetic associations and new insights into the biological underpinnings of PTSD.

  2. Gene-Based Analysis of Regionally Enriched Cortical Genes in GWAS Data Sets of Cognitive Traits and Psychiatric Disorders

    DEFF Research Database (Denmark)

    Ersland, Kari M; Christoforou, Andrea; Stansberg, Christine

    2012-01-01

    Despite its estimated high heritability, the genetic architecture leading to differences in cognitive performance remains poorly understood. Different cortical regions play important roles in normal cognitive functioning and impairment. Recently, we reported on sets of regionally enriched genes...... the regionally enriched cortical genes to mine a genome-wide association study (GWAS) of the Norwegian Cognitive NeuroGenetics (NCNG) sample of healthy adults for association to nine psychometric tests measures. In addition, we explored GWAS data sets for the serious psychiatric disorders schizophrenia (SCZ) (n...

  3. The Gene, Environment Association Studies consortium (GENEVA): maximizing the knowledge obtained from GWAS by collaboration across studies of multiple conditions.

    Science.gov (United States)

    Cornelis, Marilyn C; Agrawal, Arpana; Cole, John W; Hansel, Nadia N; Barnes, Kathleen C; Beaty, Terri H; Bennett, Siiri N; Bierut, Laura J; Boerwinkle, Eric; Doheny, Kimberly F; Feenstra, Bjarke; Feingold, Eleanor; Fornage, Myriam; Haiman, Christopher A; Harris, Emily L; Hayes, M Geoffrey; Heit, John A; Hu, Frank B; Kang, Jae H; Laurie, Cathy C; Ling, Hua; Manolio, Teri A; Marazita, Mary L; Mathias, Rasika A; Mirel, Daniel B; Paschall, Justin; Pasquale, Louis R; Pugh, Elizabeth W; Rice, John P; Udren, Jenna; van Dam, Rob M; Wang, Xiaojing; Wiggs, Janey L; Williams, Kayleen; Yu, Kai

    2010-05-01

    Genome-wide association studies (GWAS) have emerged as powerful means for identifying genetic loci related to complex diseases. However, the role of environment and its potential to interact with key loci has not been adequately addressed in most GWAS. Networks of collaborative studies involving different study populations and multiple phenotypes provide a powerful approach for addressing the challenges in analysis and interpretation shared across studies. The Gene, Environment Association Studies (GENEVA) consortium was initiated to: identify genetic variants related to complex diseases; identify variations in gene-trait associations related to environmental exposures; and ensure rapid sharing of data through the database of Genotypes and Phenotypes. GENEVA consists of several academic institutions, including a coordinating center, two genotyping centers and 14 independently designed studies of various phenotypes, as well as several Institutes and Centers of the National Institutes of Health led by the National Human Genome Research Institute. Minimum detectable effect sizes include relative risks ranging from 1.24 to 1.57 and proportions of variance explained ranging from 0.0097 to 0.02. Given the large number of research participants (N>80,000), an important feature of GENEVA is harmonization of common variables, which allow analyses of additional traits. Environmental exposure information available from most studies also enables testing of gene-environment interactions. Facilitated by its sizeable infrastructure for promoting collaboration, GENEVA has established a unified framework for genotyping, data quality control, analysis and interpretation. By maximizing knowledge obtained through collaborative GWAS incorporating environmental exposure information, GENEVA aims to enhance our understanding of disease etiology, potentially identifying opportunities for intervention. (c) 2010 Wiley-Liss, Inc.

  4. GWAS analysis of handgrip and lower body strength in older adults in the CHARGE consortium.

    Science.gov (United States)

    Matteini, Amy M; Tanaka, Toshiko; Karasik, David; Atzmon, Gil; Chou, Wen-Chi; Eicher, John D; Johnson, Andrew D; Arnold, Alice M; Callisaya, Michele L; Davies, Gail; Evans, Daniel S; Holtfreter, Birte; Lohman, Kurt; Lunetta, Kathryn L; Mangino, Massimo; Smith, Albert V; Smith, Jennifer A; Teumer, Alexander; Yu, Lei; Arking, Dan E; Buchman, Aron S; Chibinik, Lori B; De Jager, Philip L; Evans, Denis A; Faul, Jessica D; Garcia, Melissa E; Gillham-Nasenya, Irina; Gudnason, Vilmundur; Hofman, Albert; Hsu, Yi-Hsiang; Ittermann, Till; Lahousse, Lies; Liewald, David C; Liu, Yongmei; Lopez, Lorna; Rivadeneira, Fernando; Rotter, Jerome I; Siggeirsdottir, Kristin; Starr, John M; Thomson, Russell; Tranah, Gregory J; Uitterlinden, André G; Völker, Uwe; Völzke, Henry; Weir, David R; Yaffe, Kristine; Zhao, Wei; Zhuang, Wei Vivian; Zmuda, Joseph M; Bennett, David A; Cummings, Steven R; Deary, Ian J; Ferrucci, Luigi; Harris, Tamara B; Kardia, Sharon L R; Kocher, Thomas; Kritchevsky, Stephen B; Psaty, Bruce M; Seshadri, Sudha; Spector, Timothy D; Srikanth, Velandai K; Windham, B Gwen; Zillikens, M Carola; Newman, Anne B; Walston, Jeremy D; Kiel, Douglas P; Murabito, Joanne M

    2016-10-01

    Decline in muscle strength with aging is an important predictor of health trajectory in the elderly. Several factors, including genetics, are proposed contributors to variability in muscle strength. To identify genetic contributors to muscle strength, a meta-analysis of genomewide association studies of handgrip was conducted. Grip strength was measured using a handheld dynamometer in 27 581 individuals of European descent over 65 years of age from 14 cohort studies. Genomewide association analysis was conducted on ~2.7 million imputed and genotyped variants (SNPs). Replication of the most significant findings was conducted using data from 6393 individuals from three cohorts. GWAS of lower body strength was also characterized in a subset of cohorts. Two genomewide significant (P-value< 5 × 10(-8) ) and 39 suggestive (P-value< 5 × 10(-5) ) associations were observed from meta-analysis of the discovery cohorts. After meta-analysis with replication cohorts, genomewide significant association was observed for rs752045 on chromosome 8 (β = 0.47, SE = 0.08, P-value = 5.20 × 10(-10) ). This SNP is mapped to an intergenic region and is located within an accessible chromatin region (DNase hypersensitivity site) in skeletal muscle myotubes differentiated from the human skeletal muscle myoblasts cell line. This locus alters a binding motif of the CCAAT/enhancer-binding protein-β (CEBPB) that is implicated in muscle repair mechanisms. GWAS of lower body strength did not yield significant results. A common genetic variant in a chromosomal region that regulates myotube differentiation and muscle repair may contribute to variability in grip strength in the elderly. Further studies are needed to uncover the mechanisms that link this genetic variant with muscle strength. © 2016 The Authors. Aging Cell published by the Anatomical Society and John Wiley & Sons Ltd.

  5. Expression QTL analysis of top loci from GWAS meta-analysis highlights additional schizophrenia candidate genes

    DEFF Research Database (Denmark)

    de Jong, Simone; van Eijk, Kristel R; Zeegers, Dave W L H

    2012-01-01

    of the Psychiatric GWAS consortium (PGC) yielded five novel loci for schizophrenia. In this study, we aim to highlight additional schizophrenia susceptibility loci from the PGC study by combining the top association findings from the discovery stage (9394 schizophrenia cases and 12 462 controls) with expression QTLs...

  6. Genomewide association studies: history, rationale, and prospects for psychiatric disorders.

    Science.gov (United States)

    Cichon, Sven; Craddock, Nick; Daly, Mark; Faraone, Stephen V; Gejman, Pablo V; Kelsoe, John; Lehner, Thomas; Levinson, Douglas F; Moran, Audra; Sklar, Pamela; Sullivan, Patrick F

    2009-05-01

    The authors conducted a review of the history and empirical basis of genomewide association studies (GWAS), the rationale for GWAS of psychiatric disorders, results to date, limitations, and plans for GWAS meta-analyses. A literature review was carried out, power and other issues discussed, and planned studies assessed. Most of the genomic DNA sequence differences between any two people are common (frequency >5%) single nucleotide polymorphisms (SNPs). Because of localized patterns of correlation (linkage disequilibrium), 500,000 to 1,000,000 of these SNPs can test the hypothesis that one or more common variants explain part of the genetic risk for a disease. GWAS technologies can also detect some of the copy number variants (deletions and duplications) in the genome. Systematic study of rare variants will require large-scale resequencing analyses. GWAS methods have detected a remarkable number of robust genetic associations for dozens of common diseases and traits, leading to new pathophysiological hypotheses, although only small proportions of genetic variance have been explained thus far and therapeutic applications will require substantial further effort. Study design issues, power, and limitations are discussed. For psychiatric disorders, there are initial significant findings for common SNPs and for rare copy number variants, and many other studies are in progress. GWAS of large samples have detected associations of common SNPs and of rare copy number variants with psychiatric disorders. More findings are likely, since larger GWAS samples detect larger numbers of common susceptibility variants, with smaller effects. The Psychiatric GWAS Consortium is conducting GWAS meta-analyses for schizophrenia, bipolar disorder, major depressive disorder, autism, and attention deficit hyperactivity disorder. Based on results for other diseases, larger samples will be required. The contribution of GWAS will depend on the true genetic architecture of each disorder.

  7. The AraGWAS Catalog: a curated and standardized Arabidopsis thaliana GWAS catalog

    Science.gov (United States)

    Togninalli, Matteo; Seren, Ümit; Meng, Dazhe; Fitz, Joffrey; Nordborg, Magnus; Weigel, Detlef

    2018-01-01

    Abstract The abundance of high-quality genotype and phenotype data for the model organism Arabidopsis thaliana enables scientists to study the genetic architecture of many complex traits at an unprecedented level of detail using genome-wide association studies (GWAS). GWAS have been a great success in A. thaliana and many SNP-trait associations have been published. With the AraGWAS Catalog (https://aragwas.1001genomes.org) we provide a publicly available, manually curated and standardized GWAS catalog for all publicly available phenotypes from the central A. thaliana phenotype repository, AraPheno. All GWAS have been recomputed on the latest imputed genotype release of the 1001 Genomes Consortium using a standardized GWAS pipeline to ensure comparability between results. The catalog includes currently 167 phenotypes and more than 222 000 SNP-trait associations with P < 10−4, of which 3887 are significantly associated using permutation-based thresholds. The AraGWAS Catalog can be accessed via a modern web-interface and provides various features to easily access, download and visualize the results and summary statistics across GWAS. PMID:29059333

  8. Cross-national comparisons of the prevalences and correlates of mental disorders. WHO International Consortium in Psychiatric Epidemiology.

    Science.gov (United States)

    2000-01-01

    The International Consortium in Psychiatric Epidemiology (ICPE) was established in 1998 by WHO to carry out cross-national comparative studies of the prevalences and correlates of mental disorders. This article describes the findings of ICPE surveys in seven countries in North America (Canada and USA), Latin America (Brazil and Mexico), and Europe (Germany, Netherlands, and Turkey), using a version of the WHO Composite International Diagnostic Interview (CIDI) to generate diagnoses. The results are reported using DSM-III-R and DSM-IV criteria without diagnostic hierarchy rules for mental disorders and with hierarchy rules for substance-use disorders. Prevalence estimates varied widely--from > 40% lifetime prevalence of any mental disorder in Netherlands and the USA to levels of 12% in Turkey and 20% in Mexico. Comparisons of lifetime versus recent prevalence estimates show that mental disorders were often chronic, although chronicity was consistently higher for anxiety disorders than for mood or substance-use disorders. Retrospective reports suggest that mental disorders typically had early ages of onset, with estimated medians of 15 years for anxiety disorders, 26 years for mood disorders, and 21 years for substance-use disorders. All three classes of disorder were positively related to a number of socioeconomic measures of disadvantage (such as low income and education, unemployed, unmarried). Analysis of retrospective age-of-onset reports suggest that lifetime prevalences had increased in recent cohorts, but the increase was less for anxiety disorders than for mood or substance-use disorders. Delays in seeking professional treatment were widespread, especially among early-onset cases, and only a minority of people with prevailing disorders received any treatment. Mental disorders are among the most burdensome of all classes of disease because of their high prevalence and chronicity, early age of onset, and resulting serious impairment. There is a need for

  9. Reducing GWAS Complexity.

    Science.gov (United States)

    Hazelett, Dennis J; Conti, David V; Han, Ying; Al Olama, Ali Amin; Easton, Doug; Eeles, Rosalind A; Kote-Jarai, Zsofia; Haiman, Christopher A; Coetzee, Gerhard A

    2016-01-01

    Genome-wide association studies (GWAS) have revealed numerous genomic 'hits' associated with complex phenotypes. In most cases these hits, along with surrogate genetic variation as measure by numerous single nucleotide polymorphisms (SNPs) that are in linkage disequilibrium, are not in coding genes making assignment of functionality or causality intractable. Here we propose that fine-mapping along with the matching of risk SNPs at chromatin biofeatures lessen this complexity by reducing the number of candidate functional/causal SNPs. For example, we show here that only on average 2 SNPs per prostate cancer risk locus are likely candidates for functionality/causality; we further propose that this manageable number should be taken forward in mechanistic studies. The candidate SNPs can be looked up for each prostate cancer risk region in 2 recent publications in 2015 (1,2) from our groups.

  10. Power in GWAS: lifting the curse of the clinical cut-off

    NARCIS (Netherlands)

    van der Sluis, S.; Posthuma, D.; Nivard, M.G.; Verhage, M.; Dolan, C.V.

    2013-01-01

    Although genome-wide association studies (GWAS), in general, facilitated important discovery of new biological knowledge about diseases,1, 2, 3 identified variants for psychiatric disorders explain little variation, and insight into the role of genes in highly heritable psychiatric traits remains

  11. Genomewide association studies: history, rationale, and prospects for psychiatric disorders.

    NARCIS (Netherlands)

    Franke, B.; Buitelaar, J.K.; Cichon, S.; Craddock, N.; Daly, M.; Faraone, S.V.; Gejman, P.V.; Kelsoe, J.; Lehner, T.; Levinson, D.F.; Moran, A.; Sklar, P.; Sullivan, P.F.

    2009-01-01

    OBJECTIVE: The authors conducted a review of the history and empirical basis of genomewide association studies (GWAS), the rationale for GWAS of psychiatric disorders, results to date, limitations, and plans for GWAS meta-analyses. METHOD: A literature review was carried out, power and other issues

  12. Zbrowse: an interactive GWAS results browser

    Directory of Open Access Journals (Sweden)

    Greg R. Ziegler

    2015-05-01

    Full Text Available The growing number of genotyped populations, the advent of high-throughput phenotyping techniques and the development of GWAS analysis software has rapidly accelerated the number of GWAS experimental results. Candidate gene discovery from these results files is often tedious, involving many manual steps searching for genes in windows around a significant SNP. This problem rapidly becomes more complex when an analyst wishes to compare multiple GWAS studies for pleiotropic or environment specific effects. To this end, we have developed a fast and intuitive interactive browser for the viewing of GWAS results with a focus on an ability to compare results across multiple traits or experiments. The software can easily be run on a desktop computer with software that bioinformaticians are likely already familiar with. Additionally, the software can be hosted or embedded on a server for easy access by anyone with a modern web browser.

  13. Estimating Effect Sizes and Expected Replication Probabilities from GWAS Summary Statistics

    DEFF Research Database (Denmark)

    Holland, Dominic; Wang, Yunpeng; Thompson, Wesley K

    2016-01-01

    -scores, as such knowledge would enhance causal SNP and gene discovery, help elucidate mechanistic pathways, and inform future study design. Here we present a parsimonious methodology for modeling effect sizes and replication probabilities, relying only on summary statistics from GWAS substudies, and a scheme allowing......Genome-wide Association Studies (GWAS) result in millions of summary statistics ("z-scores") for single nucleotide polymorphism (SNP) associations with phenotypes. These rich datasets afford deep insights into the nature and extent of genetic contributions to complex phenotypes such as psychiatric...... 9.3 million SNP z-scores in both cases. We show that, over a broad range of z-scores and sample sizes, the model accurately predicts expectation estimates of true effect sizes and replication probabilities in multistage GWAS designs. We assess the degree to which effect sizes are over-estimated when...

  14. Multispecies, Integrative GWAS for Focal Segmental Glomerulosclerosis

    Science.gov (United States)

    2017-09-01

    Gharavi RECIPIENT: TRUSTEES OF COLUMBIA UNIVERSITY IN THE CITY OF NEW YORK NEW YORK NY 10032-3725 REPORT DATE: September 2017 TYPE OF REPORT...preform GWAS for FSGS in mice to identify new genes. FSGS, GWAS, Nephropathy, Mouse, Kidney disease results achieved. A succinct description of the...levels, immunological and inflammatory markers for the phenotypic analysis. DNA will be isolated from the spleens of these mice, and prepared

  15. PUMA: a unified framework for penalized multiple regression analysis of GWAS data.

    Science.gov (United States)

    Hoffman, Gabriel E; Logsdon, Benjamin A; Mezey, Jason G

    2013-01-01

    Penalized Multiple Regression (PMR) can be used to discover novel disease associations in GWAS datasets. In practice, proposed PMR methods have not been able to identify well-supported associations in GWAS that are undetectable by standard association tests and thus these methods are not widely applied. Here, we present a combined algorithmic and heuristic framework for PUMA (Penalized Unified Multiple-locus Association) analysis that solves the problems of previously proposed methods including computational speed, poor performance on genome-scale simulated data, and identification of too many associations for real data to be biologically plausible. The framework includes a new minorize-maximization (MM) algorithm for generalized linear models (GLM) combined with heuristic model selection and testing methods for identification of robust associations. The PUMA framework implements the penalized maximum likelihood penalties previously proposed for GWAS analysis (i.e. Lasso, Adaptive Lasso, NEG, MCP), as well as a penalty that has not been previously applied to GWAS (i.e. LOG). Using simulations that closely mirror real GWAS data, we show that our framework has high performance and reliably increases power to detect weak associations, while existing PMR methods can perform worse than single marker testing in overall performance. To demonstrate the empirical value of PUMA, we analyzed GWAS data for type 1 diabetes, Crohns's disease, and rheumatoid arthritis, three autoimmune diseases from the original Wellcome Trust Case Control Consortium. Our analysis replicates known associations for these diseases and we discover novel etiologically relevant susceptibility loci that are invisible to standard single marker tests, including six novel associations implicating genes involved in pancreatic function, insulin pathways and immune-cell function in type 1 diabetes; three novel associations implicating genes in pro- and anti-inflammatory pathways in Crohn's disease; and one

  16. BACTERIAL CONSORTIUM

    Directory of Open Access Journals (Sweden)

    Payel Sarkar

    2013-01-01

    Full Text Available Petroleum aromatic hydrocarbons like benzen e, toluene, ethyl benzene and xylene, together known as BTEX, has almost the same chemical structure. These aromatic hydrocarbons are released as pollutants in th e environment. This work was taken up to develop a solvent tolerant bacterial cons ortium that could degrade BTEX compounds as they all share a common chemical structure. We have isolated almost 60 different types of bacterial strains from different petroleum contaminated sites. Of these 60 bacterial strains almost 20 microorganisms were screene d on the basis of capability to tolerate high concentration of BTEX. Ten differe nt consortia were prepared and the compatibility of the bacterial strains within the consortia was checked by gram staining and BTEX tolerance level. Four successful mi crobial consortia were selected in which all the bacterial strains concomitantly grew in presence of high concentration of BTEX (10% of toluene, 10% of benzene 5% ethyl benzene and 1% xylene. Consortium #2 showed the highest growth rate in pr esence of BTEX. Degradation of BTEX by consortium #2 was monitored for 5 days by gradual decrease in the volume of the solvents. The maximum reduction observed wa s 85% in 5 days. Gas chromatography results also reveal that could completely degrade benzene and ethyl benzene within 48 hours. Almost 90% degradation of toluene and xylene in 48 hours was exhibited by consortium #2. It could also tolerate and degrade many industrial solvents such as chloroform, DMSO, acetonitrile having a wide range of log P values (0.03–3.1. Degradation of aromatic hydrocarbon like BTEX by a solvent tolerant bacterial consortium is greatly significant as it could degrade high concentration of pollutants compared to a bacterium and also reduces the time span of degradation.

  17. Multispecies, Integrative GWAS for Focal Segmental Glomerulosclerosis

    Science.gov (United States)

    2017-09-01

    to increase the statistical power to detect significant associations. Table 1. Summary of the clinical phenotypes and gender proportion of...the clinical phenotypes and gender proportion of Caucasian patients comprising the three cohorts selected for GWAS (N=1,153). Table 3. Association... patent applications, and/or licenses Identify inventions, patent applications with date, and/or licenses that have resulted from the research

  18. Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways

    DEFF Research Database (Denmark)

    O'Dushlaine, Colm; Rossin, Lizzy; Lee, Phil H.

    2015-01-01

    Genome-wide association studies (GWAS) of psychiatric disorders have identified multiple genetic associations with such disorders, but better methods are needed to derive the underlying biological mechanisms that these signals indicate. We sought to identify biological pathways in GWAS data from ...

  19. Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways

    NARCIS (Netherlands)

    O'Dushlaine, Colm; Rossin, Lizzy; Lee, Phil H.; Duncan, Laramie; Parikshak, Neelroop N.; Newhouse, Stephen; Ripke, Stephan; Neale, Benjamin M.; Purcell, Shaun M.; Posthuma, Danielle; Nurnberger, John I.; Lee, S. Hong; Faraone, Stephen V.; Perlis, Roy H.; Mowry, Bryan J.; Thapar, Anita; Goddard, Michael E.; Witte, John S.; Absher, Devin; Agartz, Ingrid; Akil, Huda; Amin, Farooq; Andreassen, Ole A.; Anjorin, Adebayo; Anney, Richard; Anttila, Verneri; Arking, Dan E.; Asherson, Philip; Azevedo, Maria H.; Backlund, Lena; Badner, Judith A.; Bailey, Anthony J.; Banaschewski, Tobias; Barchas, Jack D.; Barnes, Michael R.; Barrett, Thomas B.; Bass, Nicholas; Battaglia, Agatino; Bauer, Michael; Bayés, Mònica; Bellivier, Frank; Bergen, Sarah E.; Berrettini, Wade; Betancur, Catalina; Bettecken, Thomas; Biederman, Joseph; Binder, Elisabeth B.; Black, Donald W.; Blackwood, Douglas H. R.; Bloss, Cinnamon S.; Boehnke, Michael; Boomsma, Dorret I.; Breuer, René; Bruggeman, Richard; Cormican, Paul; Buccola, Nancy G.; Buitelaar, Jan K.; Bunney, William E.; Buxbaum, Joseph D.; Byerley, William F.; Byrne, Enda M.; Caesar, Sian; Cahn, Wiepke; Cantor, Rita M.; Casas, Miguel; Chakravarti, Aravinda; Chambert, Kimberly; Choudhury, Khalid; Cichon, Sven; Mattheisen, Manuel; Cloninger, C. Robert; Collier, David A.; Cook, Edwin H.; Coon, Hilary; Cormand, Bru; Corvin, Aiden; Coryell, William H.; Craig, David W.; Craig, Ian W.; Crosbie, Jennifer; Cuccaro, Michael L.; Curtis, David; Czamara, Darina; Datta, Susmita; Dawson, Geraldine; Day, Richard; de Geus, Eco J.; Degenhardt, Franziska; Djurovic, Srdjan; Donohoe, Gary J.; Doyle, Alysa E.; Duan, Jubao; Dudbridge, Frank; Duketis, Eftichia; Ebstein, Richard P.; Edenberg, Howard J.; Elia, Josephine; Ennis, Sean; Etain, Bruno; Fanous, Ayman; Farmer, Anne E.; Ferrier, I. Nicol; Flickinger, Matthew; Fombonne, Eric; Foroud, Tatiana; Frank, Josef; Franke, Barbara; Fraser, Christine; Freedman, Robert; Freimer, Nelson B.; Freitag, Christine M.; Friedl, Marion; Frisén, Louise; Gallagher, Louise; Gejman, Pablo V.; Georgieva, Lyudmila; Gershon, Elliot S.; Giegling, Ina; Gill, Michael; Gordon, Scott D.; Gordon-Smith, Katherine; Green, Elaine K.; Greenwood, Tiffany A.; Grice, Dorothy E.; Gross, Magdalena; Grozeva, Detelina; Guan, Weihua; Gurling, Hugh; de Haan, Lieuwe; Haines, Jonathan L.; Hakonarson, Hakon; Hallmayer, Joachim; Hamilton, Steven P.; Hamshere, Marian L.; Hansen, Thomas F.; Hartmann, Annette M.; Hautzinger, Martin; Heath, Andrew C.; Henders, Anjali K.; Herms, Stefan; Hickie, Ian B.; Hipolito, Maria; Hoefels, Susanne; Holsboer, Florian; Hoogendijk, Witte J.; Hottenga, Jouke-Jan; Hultman, Christina M.; Hus, Vanessa; Ingason, Andrés; Ising, Marcus; Jamain, Stéphane; Jones, Edward G.; Jones, Ian; Jones, Lisa; Tzeng, Jung-Ying; Kähler, Anna K.; Kahn, René S.; Kandaswamy, Radhika; Keller, Matthew C.; Kennedy, James L.; Kenny, Elaine; Kent, Lindsey; Kim, Yunjung; Kirov, George K.; Klauck, Sabine M.; Klei, Lambertus; Knowles, James A.; Kohli, Martin A.; Koller, Daniel L.; Konte, Bettina; Korszun, Ania; Krabbendam, Lydia; Krasucki, Robert; Kuntsi, Jonna; Kwan, Phoenix; Landén, Mikael; Längström, Niklas; Lathrop, Mark; Lawrence, Jacob; Lawson, William B.; Leboyer, Marion; Ledbetter, David H.; Lencz, Todd; Lesch, Klaus-Peter; Levinson, Douglas F.; Lewis, Cathryn M.; Li, Jun; Lichtenstein, Paul; Lieberman, Jeffrey A.; Lin, Dan-Yu; Linszen, Don H.; Liu, Chunyu; Lohoff, Falk W.; Loo, Sandra K.; Lord, Catherine; Lowe, Jennifer K.; Lucae, Susanne; MacIntyre, Donald J.; Madden, Pamela A. F.; Maestrini, Elena; Magnusson, Patrik K. E.; Mahon, Pamela B.; Maier, Wolfgang; Malhotra, Anil K.; Mane, Shrikant M.; Martin, Christa L.; Martin, Nicholas G.; Matthews, Keith; Mattingsdal, Morten; McCarroll, Steven A.; McGhee, Kevin A.; McGough, James J.; McGrath, Patrick J.; McGuffin, Peter; McInnis, Melvin G.; McIntosh, Andrew; McKinney, Rebecca; McLean, Alan W.; McMahon, Francis J.; McMahon, William M.; McQuillin, Andrew; Medeiros, Helena; Medland, Sarah E.; Meier, Sandra; Melle, Ingrid; Meyer, Jobst; Middeldorp, Christel M.; Middleton, Lefkos; Milanova, Vihra; Miranda, Ana; Monaco, Anthony P.; Montgomery, Grant W.; Moran, Jennifer L.; Moreno-de-Luca, Daniel; Morken, Gunnar; Morris, Derek W.; Morrow, Eric M.; Moskvina, Valentina; Muglia, Pierandrea; Mühleisen, Thomas W.; Muir, Walter J.; Müller-Myhsok, Bertram; Murtha, Michael; Myers, Richard M.; Myin-Germeys, Inez; Neale, Michael C.; Nelson, Stan F.; Nievergelt, Caroline M.; Nikolov, Ivan; Nimgaonkar, Vishwajit; Nolen, Willem A.; Nöthen, Markus M.; Nwulia, Evaristus A.; Nyholt, Dale R.; Oades, Robert D.; Olincy, Ann; Oliveira, Guiomar; Olsen, Line; Ophoff, Roel A.; Osby, Urban; Owen, Michael J.; Palotie, Aarno; Parr, Jeremy R.; Paterson, Andrew D.; Pato, Carlos N.; Pato, Michele T.; Penninx, Brenda W.; Pergadia, Michele L.; Pericak-Vance, Margaret A.; Pickard, Benjamin S.; Pimm, Jonathan; Piven, Joseph; Potash, James B.; Poustka, Fritz; Propping, Peter; Puri, Vinay; Quested, Digby J.; Quinn, Emma M.; Ramos-Quiroga, Josep Antoni; Rasmussen, Henrik B.; Raychaudhuri, Soumya; Rehnström, Karola; Reif, Andreas; Ribasés, Marta; Rice, John P.; Rietschel, Marcella; Roeder, Kathryn; Roeyers, Herbert; Rothenberger, Aribert; Rouleau, Guy; Ruderfer, Douglas; Rujescu, Dan; Sanders, Alan R.; Sanders, Stephan J.; Santangelo, Susan L.; Sergeant, Joseph A.; Schachar, Russell; Schalling, Martin; Schatzberg, Alan F.; Scheftner, William A.; Schellenberg, Gerard D.; Scherer, Stephen W.; Schork, Nicholas J.; Schulze, Thomas G.; Schumacher, Johannes; Schwarz, Markus; Scolnick, Edward; Scott, Laura J.; Shi, Jianxin; Shilling, Paul D.; Shyn, Stanley I.; Silverman, Jeremy M.; Slager, Susan L.; Smalley, Susan L.; Smit, Johannes H.; Smith, Erin N.; Sonuga-Barke, Edmund J. S.; St Clair, David; State, Matthew; Steffens, Michael; Steinhausen, Hans-Christoph; Strauss, John S.; Strohmaier, Jana; Stroup, T. Scott; Sutcliffe, James S.; Szatmari, Peter; Szelinger, Szabocls; Thirumalai, Srinivasa; Thompson, Robert C.; Todorov, Alexandre A.; Tozzi, Federica; Treutlein, Jens; Uhr, Manfred; van den Oord, J. C. G.; van Grootheest, Gerard; van Os, Jim; Vicente, Astrid M.; Vieland, Veronica J.; Vincent, John B.; Visscher, Peter M.; Walsh, Christopher A.; Wassink, Thomas H.; Watson, Stanley J.; Weissman, Myrna M.; Werge, Thomas; Wienker, Thomas F.; Wijsman, Ellen M.; Willemsen, Gonneke; Williams, Nigel; Willsey, A. Jeremy; Witt, Stephanie H.; Xu, Wei; Young, Allan H.; Yu, Timothy W.; Zammit, Stanley; Zandi, Peter P.; Zhang, Peng; Zitman, Frans G.; Zöllner, Sebastian; Devlin, Bernie; Kelsoe, John R.; Sklar, Pamela; Daly, Mark J.; O'Donovan, Michael C.; Craddock, Nicholas; Kendler, Kenneth S.; Weiss, Lauren A.; Wray, Naomi R.; Zhao, Zhaoming; Geschwind, Daniel H.; Sullivan, Patrick F.; Smoller, Jordan W.; Holmans, Peter A.; Breen, Gerome

    2015-01-01

    Genome-wide association studies (GWAS) of psychiatric disorders have identified multiple genetic associations with such disorders, but better methods are needed to derive the underlying biological mechanisms that these signals indicate. We sought to identify biological pathways in GWAS data from

  20. Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways

    NARCIS (Netherlands)

    O'Dushlaine, Colm; Rossin, Lizzy; Lee, Phil H.; Duncan, Laramie; Parikshak, Neelroop N.; Newhouse, Stephen; Ripke, Stephan; Neale, Benjamin M.; Purcell, Shaun M.; Posthuma, Danielle; Nurnberger, John I.; Lee, S. Hong; Faraone, Stephen V.; Perlis, Roy H.; Mowry, Bryan J.; Thapar, Anita; Goddard, Michael E.; Witte, John S.; Absher, Devin; Agartz, Ingrid; Akil, Huda; Amin, Farooq; Andreassen, Ole A.; Anjorin, Adebayo; Anney, Richard; Anttila, Verneri; Arking, Dan E.; Asherson, Philip; Azevedo, Maria H.; Backlund, Lena; Badner, Judith A.; Bailey, Anthony J.; Banaschewski, Tobias; Barchas, Jack D.; Barnes, Michael R.; Barrett, Thomas B.; Bass, Nicholas; Battaglia, Agatino; Bauer, Michael; Bayes, Monica; Bellivier, Frank; Bergen, Sarah E.; Berrettini, Wade; Betancur, Catalina; Bettecken, Thomas; Biederman, Joseph; Binder, Elisabeth B.; Black, Donald W.; Blackwood, Douglas H. R.; Bloss, Cinnamon S.; Boehnke, Michael; Boomsma, Dorret I.; Breuer, Rene; Bruggeman, Richard; Cormican, Paul; Buccola, Nancy G.; Buitelaar, Jan K.; Bunney, William E.; Buxbaum, Joseph D.; Byerley, William F.; Byrne, Enda M.; Caesar, Sian; Cahn, Wiepke; Cantor, Rita M.; Casas, Miguel; Chakravarti, Aravinda; Chambert, Kimberly; Choudhury, Khalid; Cichon, Sven; Mattheisen, Manuel; Cloninger, C. Robert; Collier, David A.; Cook, Edwin H.; Coon, Hilary; Cormand, Bru; Corvin, Aiden; Coryell, William H.; Craig, David W.; Craig, Ian W.; Crosbie, Jennifer; Cuccaro, Michael L.; Curtis, David; Czamara, Darina; Datta, Susmita; Dawson, Geraldine; Day, Richard; De Geus, Eco J.; Degenhardt, Franziska; Djurovic, Srdjan; Donohoe, Gary J.; Doyle, Alysa E.; Duan, Jubao; Dudbridge, Frank; Duketis, Eftichia; Ebstein, Richard P.; Edenberg, Howard J.; Elia, Josephine; Ennis, Sean; Etain, Bruno; Fanous, Ayman; Farmer, Anne E.; Ferrier, I. Nicol; Flicldnger, Matthew; Fombonne, Eric; Foroud, Tatiana; Frank, Josef; Franke, Barbara; Fraser, Christine; Freedman, Robert; Freimer, Nelson B.; Freitag, Christine M.; Friedl, Marion; Frisen, Louise; Gailagher, Louise; Gejman, Pablo V.; Georgieva, Lyudmila; Gershon, Elliot S.; Giegling, Ina; Gill, Michael; Gordon, Scott D.; Gordon-Smith, Katherine; Green, Elaine K.; Greenwood, Tiffany A.; Grice, Dorothy E.; Gross, Magdalena; Grozeva, Detelina; Guan, Weihua; Gurling, Hugh; De Haan, Lieuwe; Haines, Jonathan L.; Hakonarson, Hakon; Hallmayer, Joachim; Hamilton, Steven P.; Hamshere, Marian L.; Hansen, Thomas F.; Hartmann, Annette M.; Hautzinger, Martin; Heath, Andrew C.; Henders, Anjali K.; Herms, Stefan; Hickie, Ian B.; Hipolito, Maria; Hoefels, Susanne; Holsboer, Florian; Hoogendijk, Witte J.; Hottenga, Jouke-Jan; Hultman, Christina M.; Hus, Vanessa; Ingason, Andres; Ising, Marcus; Jamain, Stephane; Jones, Edward G.; Jones, Ian; Jones, Lisa; Tzeng, Jung-Ying; Kaehler, Anna K.; Kahn, Rene S.; Kandaswamy, Radhika; Keller, Matthew C.; Kennedy, James L.; Kenny, Elaine; Kent, Lindsey; Kim, Yunjung; Kirov, George K.; Klauck, Sabine M.; Klei, Lambertus; Knowles, James A.; Kohli, Martin A.; Koller, Daniel L.; Konte, Bettina; Korszun, Ania; Krabbendam, Lydia; Krasucki, Robert; Kuntsi, Jonna; Kwan, Phoenix; Landen, Mikael; Laengstroem, Niklas; Lathrop, Mark; Lawrence, Jacob; Lawson, William B.; Leboyer, Marion; Ledbetter, David H.; Lencz, Todd; Lesch, Klaus-Peter; Levinson, Douglas F.; Lewis, Cathryn M.; Li, Jun; Lichtenstein, Paul; Lieberman, Jeffrey A.; Lin, Dan-Yu; Linszen, Don H.; Liu, Chunyu; Lohoff, Falk W.; Loo, Sandra K.; Lord, Catherine; Lowe, Jennifer K.; Lucae, Susanne; MacIntyre, Donald J.; Madden, Pamela A. F.; Maestrini, Elena; Magnusson, Patrik K. E.; Mahon, Pamela B.; Maier, Wolfgang; Malhotra, Anil K.; Mane, Shrikant M.; Martin, Christa L.; Martin, Nicholas G.; Matthews, Keith; Mattingsdal, Morten; McCarroll, Steven A.; McGhee, Kevin A.; McGough, James J.; McGrath, Patrick J.; McGuffin, Peter; McInnis, Melvin G.; McIntosh, Andrew; McKinney, Rebecca; McLean, Alan W.; McMahon, Francis J.; McMahon, William M.; McQuillin, Andrew; Medeiros, Helena; Medland, Sarah E.; Meier, Sandra; Melle, Ingrid; Meng, Fan; Meyer, Jobst; Middeldorp, Christel M.; Middleton, Lefkos; Milanova, Vihra; Miranda, Ana; Monaco, Anthony P.; Montgomery, Grant W.; Moran, Jennifer L.; Moreno-De-Luca, Daniel; Morken, Gunnar; Morris, Derek W.; Morrow, Eric M.; Moskvina, Valentina; Muglia, Pierandrea; Muehleisen, Thomas W.; Muir, Walter J.; Mueller-Myhsok, Bertram; Murtha, Michael; Myers, Richard M.; Myin-Germeys, Inez; Neale, Michael C.; Nelson, Stan F.; Nievergelt, Caroline M.; Nikolov, Ivan; Nimgaonkar, Vishwajit; Nolen, Willem A.; Noethen, Markus M.; Nwulia, Evaristus A.; Nyholt, Dale R.; Oades, Robert D.; Olincy, Ann; Oliveira, Guiomar; Olsen, Line; Ophoff, Roel A.; Osby, Urban; Owen, Michael J.; Palotie, Aarno; Parr, Jeremy R.; Paterson, Andrew D.; Pato, Carlos N.; Pato, Michele T.; Penninx, Brenda W.; Pergadia, Michele L.; Pericak-Vance, Margaret A.; Pickard, Benjamin S.; Pimm, Jonathan; Piven, Joseph; Potash, James B.; Poustka, Fritz; Propping, Peter; Puri, Vinay; Quested, Digby J.; Quinn, Emma M.; Ramos-Quiroga, Josep Antoni; Rasmussen, Henrik B.; Raychaudhuri, Soumya; Rehnstroem, Karola; Reif, Andreas; Ribases, Marta; Rice, John P.; Rietschel, Marcella; Roeder, Kathryn; Roeyers, Herbert; Rothenberger, Aribert; Rouleau, Guy; Ruderfer, Douglas; Rujescu, Dan; Sanders, Alan R.; Sanders, Stephan J.; Santangelo, Susan L.; Sergeant, Joseph A.; Schachar, Russell; Schalling, Martin; Schatzberg, Alan F.; Scheftner, William A.; Schellenberg, Gerard D.; Scherer, Stephen W.; Schork, Nicholas J.; Schulze, Thomas G.; Schumacher, Johannes; Schwarz, Markus; Scolnick, Edward; Scott, Laura J.; Shi, Jianxin; Shilling, Paul D.; Shyn, Stanley I.; Silverman, Jeremy M.; Slager, Susan L.; Smalley, Susan L.; Smit, Johannes H.; Smith, Erin N.; Sonuga-Barke, Edmund J. S.; Cair, David St.; State, Matthew; Steffens, Michael; Steinhausen, Hans-Christoph; Strauss, John S.; Strohmaier, Jana; Stroup, T. Scott; Sutdiffe, James S.; Szatmari, Peter; Szelinger, Szabocls; Thirumalai, Srinivasa; Thompson, Robert C.; Todorov, Alexandre A.; Tozzi, Federica; Treutlein, Jens; Uhr, Manfred; Van den Oord, Edwin J. C. G.; Van Grootheest, Gerard; Van Os, Jim; Vicente, Astrid M.; Vieland, Veronica J.; Vincent, John B.; Visscher, Peter M.; Walsh, Christopher A.; Wassink, Thomas H.; Watson, Stanley J.; Weissman, Myrna M.; Werge, Thomas; Wienker, Thomas F.; Wijsman, Ellen M.; Willemsen, Gonneke; Williams, Nigel; Willsey, A. Jeremy; Witt, Stephanie H.; Xu, Wei; Young, Allan H.; Yu, Timothy W.; Zammit, Stanley; Zandi, Peter P.; Zhang, Peng; Zitman, Frans G.; Zoellner, Sebastian; Devlin, Bernie; Kelsoe, John R.; Sklar, Pamela; Daly, Mark J.; O'Donovan, Michael C.; Craddock, Nicholas; Kendler, Kenneth S.; Weiss, Lauren A.; Wray, Naomi R.; Zhao, Zhaoming; Geschwind, Daniel H.; Sullivan, Patrick F.; Smoller, Jordan W.; Holmans, Peter A.; Breen, Gerome

    Genome-wide association studies (GWAS) of psychiatric disorders have identified multiple genetic associations with such disorders, but better methods are needed to derive the underlying biological mechanisms that these signals indicate. We sought to identify biological pathways in GWAS data from

  1. Efficient Software for Multi-marker, Region-Based Analysis of GWAS Data

    Directory of Open Access Journals (Sweden)

    Jaleal S. Sanjak

    2016-04-01

    Full Text Available Genome-wide association studies (GWAS have associated many single variants with complex disease, yet the better part of heritable complex disease risk remains unexplained. Analytical tools designed to work under specific population genetic models are needed. Rare variants are increasingly shown to be important in human complex disease, but most existing GWAS data do not cover rare variants. Explicit population genetic models predict that genes contributing to complex traits and experiencing recurrent, unconditionally deleterious, mutation will harbor multiple rare, causative mutations of subtle effect. It is difficult to identify genes harboring rare variants of large effect that contribute to complex disease risk via the single marker association tests typically used in GWAS. Gene/region-based association tests may have the power detect associations by combining information from multiple markers, but have yielded limited success in practice. This is partially because many methods have not been widely applied. Here, we empirically demonstrate the utility of a procedure based on the rank truncated product (RTP method, filtered to reduce the effects of linkage disequilibrium. We apply the procedure to the Wellcome Trust Case Control Consortium (WTCCC data set, and uncover previously unidentified associations, some of which have been replicated in much larger studies. We show that, in the absence of significant rare variant coverage, RTP based methods still have the power to detect associated genes. We recommend that RTP-based methods be applied to all existing GWAS data to maximize the usefulness of those data. For this, we provide efficient software implementing our procedure.

  2. International Lymphoma Epidemiology Consortium

    Science.gov (United States)

    The InterLymph Consortium, or formally the International Consortium of Investigators Working on Non-Hodgkin's Lymphoma Epidemiologic Studies, is an open scientific forum for epidemiologic research in non-Hodgkin's lymphoma.

  3. Brain expression genome-wide association study (eGWAS identifies human disease-associated variants.

    Directory of Open Access Journals (Sweden)

    Fanggeng Zou

    Full Text Available Genetic variants that modify brain gene expression may also influence risk for human diseases. We measured expression levels of 24,526 transcripts in brain samples from the cerebellum and temporal cortex of autopsied subjects with Alzheimer's disease (AD, cerebellar n=197, temporal cortex n=202 and with other brain pathologies (non-AD, cerebellar n=177, temporal cortex n=197. We conducted an expression genome-wide association study (eGWAS using 213,528 cisSNPs within ± 100 kb of the tested transcripts. We identified 2,980 cerebellar cisSNP/transcript level associations (2,596 unique cisSNPs significant in both ADs and non-ADs (q<0.05, p=7.70 × 10(-5-1.67 × 10(-82. Of these, 2,089 were also significant in the temporal cortex (p=1.85 × 10(-5-1.70 × 10(-141. The top cerebellar cisSNPs had 2.4-fold enrichment for human disease-associated variants (p<10(-6. We identified novel cisSNP/transcript associations for human disease-associated variants, including progressive supranuclear palsy SLCO1A2/rs11568563, Parkinson's disease (PD MMRN1/rs6532197, Paget's disease OPTN/rs1561570; and we confirmed others, including PD MAPT/rs242557, systemic lupus erythematosus and ulcerative colitis IRF5/rs4728142, and type 1 diabetes mellitus RPS26/rs1701704. In our eGWAS, there was 2.9-3.3 fold enrichment (p<10(-6 of significant cisSNPs with suggestive AD-risk association (p<10(-3 in the Alzheimer's Disease Genetics Consortium GWAS. These results demonstrate the significant contributions of genetic factors to human brain gene expression, which are reliably detected across different brain regions and pathologies. The significant enrichment of brain cisSNPs among disease-associated variants advocates gene expression changes as a mechanism for many central nervous system (CNS and non-CNS diseases. Combined assessment of expression and disease GWAS may provide complementary information in discovery of human disease variants with functional implications. Our findings

  4. Psychiatric Disorders From Childhood to Adulthood in 22q11.2 Deletion Syndrome: Results From the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome

    National Research Council Canada - National Science Library

    Schneider, Maude; Debbané, Martin; Bassett, Anne S; Chow, Eva W.C; Fung, Wai Lun Alan; van den Bree, Marianne B.M; Owen, Michael; Murphy, Declan G; Murphy, Kieran C; Niarchou, Maria; Kates, Wendy R; Antshel, Kevin M; Fremont, Wanda; McDonald-McGinn, Donna M; Gur, Raquel E; Zackai, Elaine H; Vorstman, Jacob; Duijff, Sasja N; Klaassen, Petra W.J; Swillen, Ann; Gothelf, Doron; Green, Tamar; Weizman, Abraham; Van Amelsvoort, Therese; Evers, Laurens; Boot, Erik; Shashi, Vandana; Hooper, Stephen R; Bearden, Carrie E; Jalbrzikowski, Maria; Armando, Marco; Vicari, Stefano; Ousley, Opal; Campbell, Linda E; Simon, Tony J; Eliez, Stephan

    2014-01-01

    .... The authors report what is to their knowledge the first large-scale collaborative study of rates and sex distributions of psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome...

  5. Phenotype harmonization and cross-study collaboration in GWAS consortia: the GENEVA experience.

    Science.gov (United States)

    Bennett, Siiri N; Caporaso, Neil; Fitzpatrick, Annette L; Agrawal, Arpana; Barnes, Kathleen; Boyd, Heather A; Cornelis, Marilyn C; Hansel, Nadia N; Heiss, Gerardo; Heit, John A; Kang, Jae Hee; Kittner, Steven J; Kraft, Peter; Lowe, William; Marazita, Mary L; Monroe, Kristine R; Pasquale, Louis R; Ramos, Erin M; van Dam, Rob M; Udren, Jenna; Williams, Kayleen

    2011-04-01

    Genome-wide association study (GWAS) consortia and collaborations formed to detect genetic loci for common phenotypes or investigate gene-environment (G*E) interactions are increasingly common. While these consortia effectively increase sample size, phenotype heterogeneity across studies represents a major obstacle that limits successful identification of these associations. Investigators are faced with the challenge of how to harmonize previously collected phenotype data obtained using different data collection instruments which cover topics in varying degrees of detail and over diverse time frames. This process has not been described in detail. We describe here some of the strategies and pitfalls associated with combining phenotype data from varying studies. Using the Gene Environment Association Studies (GENEVA) multi-site GWAS consortium as an example, this paper provides an illustration to guide GWAS consortia through the process of phenotype harmonization and describes key issues that arise when sharing data across disparate studies. GENEVA is unusual in the diversity of disease endpoints and so the issues it faces as its participating studies share data will be informative for many collaborations. Phenotype harmonization requires identifying common phenotypes, determining the feasibility of cross-study analysis for each, preparing common definitions, and applying appropriate algorithms. Other issues to be considered include genotyping timeframes, coordination of parallel efforts by other collaborative groups, analytic approaches, and imputation of genotype data. GENEVA's harmonization efforts and policy of promoting data sharing and collaboration, not only within GENEVA but also with outside collaborations, can provide important guidance to ongoing and new consortia. © 2011 Wiley-Liss, Inc.

  6. SNPEVG: a graphical tool for GWAS graphing with mouse clicks

    Directory of Open Access Journals (Sweden)

    Wang Shengwen

    2012-11-01

    Full Text Available Abstract Background Genome-wide association studies (GWAS using single nucleotide polymorphism (SNP markers generate large quantities of tests results. Global and local graphical viewing of the test results is an effective approach to digest and interpret GWAS results. Results SNPEVG is a set of graphical tools for instant global and local viewing and graphing of GWAS results for all chromosomes and for each trait. The current version includes three programs, SNPEVG1, SNPEVG2 and SNPEVG3. SNPEVG1 is a graphical tool for SNP effect viewing of P-values allowing multiple traits. The total number of graphs that can be generated by one ‘Run’ is n(c + 2, where n is number of ‘traits’ with 0 Conclusions The SNPEVG package is a versatile, flexible and efficient graphical tool for rapid digestion of large quantities of GWAS results with mouse clicks.

  7. Partitioning heritability by functional category using GWAS summary statistics

    DEFF Research Database (Denmark)

    Finucane, Hilary K.; Bulik-Sullivan, Brendan; Gusev, Alexander

    2015-01-01

    in genome-wide association studies (GWAS) of 17 complex diseases and traits with an average sample size of 73,599. To enable this analysis, we introduce a new method, stratified LD score regression, for partitioning heritability from GWAS summary statistics while accounting for linked markers. This new...... type-specific enrichments, including significant enrichment of central nervous system cell types in the heritability of body mass index, age at menarche, educational attainment and smoking behavior....

  8. Novel loci associated with usual sleep duration: The CHARGE Consortium Genome-Wide Association Study

    NARCIS (Netherlands)

    Gottlieb, D.J.; Hek, K.; Chen, T.H.; Watson, N.F.; Eiriksdottir, G.; Byrne, E.M.; Cornelis, M.; Warby, S.C.; Bandinelli, S.; Cherkas, L.; Evans, D.S.; Grabe, H.J.; Lahti, J.; Li, M.; Lehtimaki, T.; Lumley, T.; Marciante, K.D.; Pérusse, L.; Psaty, B.M.; Robbins, J.; Tranah, G.J.; Vink, J.M.; Wilk, J.B.; Stafford, J.M.; Bellis, C.; Biffar, R.; Bouchard, C.; Cade, B.; Curhan, G.C.; Eriksson, J.G.; Ewert, R.; Ferrucci, L.; Fulop, T.; Gehrman, P.R.; Goodloe, R.; Harris, T.B.; Heath, A.C.; Hernandez, D.G.; Hofman, A.; Hottenga, J.J.; Hunter, D.J.; Jensen, M.K.; Johnson, A.D.; Kahonen, M.; Kao, L.; Kraft, P.; Larkin, E.K.; Lauderdale, D.S.; Luik, A.I.; Medici, M.; Montgomery, G.W.; Palotie, A.; Patel, S.R.; Pistis, G.; Porcu, E.; Quaye, L.; Raitakari, O.; Redline, S.; Rimm, E.B.; Rotter, J.I.; Smith, A.V.; Spector, T.D.; Teumer, A.; Uitterlinden, A.G.; Vohl, M.C.; Widen, E.; Willemsen, G.; Young, T.; Zhang, X.; Liu, Y.; Blangero, J.; Boomsma, D.I.; Gudnason, V.; Hu, F.; Mangino, M.; Martin, N.G.; O'Connor, G.T.; Stone, K.L.; Tanaka, T.; Viikari, J.; Gharib, S.A.; Punjabi, N.M.; Raikkonen, K.; Völzke, H.; Mignot, E.; Tiemeier, H.

    2015-01-01

    Usual sleep duration is a heritable trait correlated with psychiatric morbidity, cardiometabolic disease and mortality, although little is known about the genetic variants influencing this trait. A genome-wide association study (GWAS) of usual sleep duration was conducted using 18 population-based

  9. UPDG: Utilities package for data analysis of Pooled DNA GWAS

    Directory of Open Access Journals (Sweden)

    Ho Daniel WH

    2012-01-01

    Full Text Available Abstract Background Despite being a well-established strategy for cost reduction in disease gene mapping, pooled DNA association study is much less popular than the individual DNA approach. This situation is especially true for pooled DNA genomewide association study (GWAS, for which very few computer resources have been developed for its data analysis. This motivates the development of UPDG (Utilities package for data analysis of Pooled DNA GWAS. Results UPDG represents a generalized framework for data analysis of pooled DNA GWAS with the integration of Unix/Linux shell operations, Perl programs and R scripts. With the input of raw intensity data from GWAS, UPDG performs the following tasks in a stepwise manner: raw data manipulation, correction for allelic preferential amplification, normalization, nested analysis of variance for genetic association testing, and summarization of analysis results. Detailed instructions, procedures and commands are provided in the comprehensive user manual describing the whole process from preliminary preparation of software installation to final outcome acquisition. An example dataset (input files and sample output files is also included in the package so that users can easily familiarize themselves with the data file formats, working procedures and expected output. Therefore, UPDG is especially useful for users with some computer knowledge, but without a sophisticated programming background. Conclusions UPDG provides a free, simple and platform-independent one-stop service to scientists working on pooled DNA GWAS data analysis, but with less advanced programming knowledge. It is our vision and mission to reduce the hindrance for performing data analysis of pooled DNA GWAS through our contribution of UPDG. More importantly, we hope to promote the popularity of pooled DNA GWAS, which is a very useful research strategy.

  10. The BADER Consortium

    Science.gov (United States)

    2014-10-01

    areas to include overview presentations, followed by questions and answers, and a poster session. Small group discussion breakout sessions for each...BADER CTDB user portal was updated with two short informational videos (BADER-NICHD CTDB Partnership and CTDB Overview ). Two CTDB monthly “huddle-up...Diego (NMCSD) Neptune , Rick BADER Consortium Affiliate University of Texas at Austin Nordin, Margareta BADER Consortium Affiliate New York

  11. GWAS as a Driver of Gene Discovery in Cardiometabolic Diseases

    NARCIS (Netherlands)

    Atanasovska, Biljana; Kumar, Vinod; Fu, Jingyuan; Wijmenga, Cisca; Hofker, Marten H.

    2015-01-01

    Cardiometabolic diseases represent a common complex disorder with a strong genetic component. Currently, genome-wide association studies (GWAS) have yielded some 755 single-nucleotide polymorphisms (SNPs) encompassing 366 independent loci that may help to decipher the molecular basis of

  12. Comparing genetic variants detected in the 1000 genomes project with SNPs determined by the International HapMap Consortium.

    Science.gov (United States)

    Zhang, Wenqian; Ng, Hui Wen; Shu, Mao; Luo, Heng; Su, ZhenQiang; Ge, Weigong; Perkins, Roger; Tong, Weida; Hong, Huixiao

    2015-12-01

    Single-nucleotide polymorphisms (SNPs) determined based on SNP arrays from the international HapMap consortium (HapMap) and the genetic variants detected in the 1000 genomes project (1KGP) can serve as two references for genomewide association studies (GWAS). We conducted comparative analyses to provide a means for assessing concerns regarding SNP array-based GWAS findings as well as for realistically bounding expectations for next generation sequencing (NGS)-based GWAS. We calculated and compared base composition, transitions to transversions ratio, minor allele frequency and heterozygous rate for SNPs from HapMap and 1KGP for the 622 common individuals. We analysed the genotype discordance between HapMap and 1KGP to assess consistency in the SNPs from the two references. In 1KGP, 90.58% of 36,817,799 SNPs detected were not measured in HapMap. More SNPs with minor allele frequencies less than 0.01 were found in 1KGP than HapMap. The two references have low disc ordance (generally smaller than 0.02) in genotypes of common SNPs, with most discordance from heterozygous SNPs. Our study demonstrated that SNP array-based GWAS findings were reliable and useful, although only a small portion of genetic variances were explained. NGS can detect not only common but also rare variants, supporting the expectation that NGS-based GWAS will be able to incorporate a much larger portion of genetic variance than SNP arrays-based GWAS.

  13. GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer

    NARCIS (Netherlands)

    Pharoah, P.D.; Tsai, Y.Y.; Ramus, S.J.; Phelan, C.M.; Goode, E.L.; Lawrenson, K.; Buckley, M.; Fridley, B.L.; Tyrer, J.P.; Shen, H.; Weber, R.; Karevan, R.; Larson, M.C.; Song, H.; Tessier, D.C.; Bacot, F.; Vincent, D.; Cunningham, J.M.; Dennis, J.; Dicks, E.; Aben, K.K.H.; Anton-Culver, H.; Antonenkova, N.; Armasu, S.M.; Baglietto, L.; Bandera, E.V.; Beckmann, M.W.; Birrer, M.J.; Bloom, G.; Bogdanova, N.; Brenton, J.D.; Brinton, L.A.; Brooks-Wilson, A.; Brown, R.; Butzow, R.; Campbell, I.; Carney, M.E.; Carvalho, R.S.; Chang-Claude, J.; Chen, Y.A.; Chen, Z.; Chow, W.H.; Cicek, M.S.; Coetzee, G.; Cook, L.S.; Cramer, D.W; Cybulski, C.; Dansonka-Mieszkowska, A.; Despierre, E.; Doherty, J.A.; Dork, T.; Bois, A. du; Durst, M.; Eccles, D.; Edwards, R.; Ekici, A.B.; Fasching, P.A.; Fenstermacher, D.; Flanagan, J.; Gao, Y.T.; Garcia-Closas, M.; Gentry-Maharaj, A.; Giles, G.; Gjyshi, A.; Gore, M.; Gronwald, J.; Guo, Q.; Halle, M.K.; Harter, P.; Hein, A.; Heitz, F.; Hillemanns, P.; Hoatlin, M.; Hogdall, E.; Hogdall, C.K.; Hosono, S.; Jakubowska, A.; Jensen, A.; Kalli, K.R.; Karlan, B.Y.; Kelemen, L.E.; Kiemeney, L.A.L.M.; Kjaer, S.K.; Konecny, G.E.; Krakstad, C.; Kupryjanczyk, J.; Lambrechts, D.; Lambrechts, S.; Le, N.D.; Lee, N.; Lee, J. van der; Leminen, A.; Lim, B.K.; Lissowska, J.; Lubinski, J.; Lundvall, L.; Lurie, G.; Massuger, L.F.A.G.; Altena, A.M. van

    2013-01-01

    Genome-wide association studies (GWAS) have identified four susceptibility loci for epithelial ovarian cancer (EOC), with another two suggestive loci reaching near genome-wide significance. We pooled data from a GWAS conducted in North America with another GWAS from the UK. We selected the top

  14. GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer

    DEFF Research Database (Denmark)

    Pharoah, Paul D P; Tsai, Ya-Yu; Ramus, Susan J

    2013-01-01

    Genome-wide association studies (GWAS) have identified four susceptibility loci for epithelial ovarian cancer (EOC), with another two suggestive loci reaching near genome-wide significance. We pooled data from a GWAS conducted in North America with another GWAS from the UK. We selected the top 24...

  15. Characterizing associations and SNP-environment interactions for GWAS-identified prostate cancer risk markers--results from BPC3.

    Directory of Open Access Journals (Sweden)

    Sara Lindstrom

    2011-02-01

    Full Text Available Genome-wide association studies (GWAS have identified multiple single nucleotide polymorphisms (SNPs associated with prostate cancer risk. However, whether these associations can be consistently replicated, vary with disease aggressiveness (tumor stage and grade and/or interact with non-genetic potential risk factors or other SNPs is unknown. We therefore genotyped 39 SNPs from regions identified by several prostate cancer GWAS in 10,501 prostate cancer cases and 10,831 controls from the NCI Breast and Prostate Cancer Cohort Consortium (BPC3. We replicated 36 out of 39 SNPs (P-values ranging from 0.01 to 10⁻²⁸. Two SNPs located near KLK3 associated with PSA levels showed differential association with Gleason grade (rs2735839, P = 0.0001 and rs266849, P = 0.0004; case-only test, where the alleles associated with decreasing PSA levels were inversely associated with low-grade (as defined by Gleason grade < 8 tumors but positively associated with high-grade tumors. No other SNP showed differential associations according to disease stage or grade. We observed no effect modification by SNP for association with age at diagnosis, family history of prostate cancer, diabetes, BMI, height, smoking or alcohol intake. Moreover, we found no evidence of pair-wise SNP-SNP interactions. While these SNPs represent new independent risk factors for prostate cancer, we saw little evidence for effect modification by other SNPs or by the environmental factors examined.

  16. IPD-Work consortium

    DEFF Research Database (Denmark)

    Kivimäki, Mika; Singh-Manoux, Archana; Virtanen, Marianna

    2015-01-01

    underestimation of the population attributable risk (PAR) of job strain for CHD, and policy implications arising from the findings of the IPD-Work consortium; and (iii) outline general principles for designing evidence-based policy and prevention from good-quality evidence, including future directions...

  17. The Genomic Standards Consortium

    DEFF Research Database (Denmark)

    Field, Dawn; Amaral-Zettler, Linda; Cochrane, Guy

    2011-01-01

    Standards Consortium (GSC), an open-membership organization that drives community-based standardization activities, Here we provide a short history of the GSC, provide an overview of its range of current activities, and make a call for the scientific community to join forces to improve the quality...

  18. Functional Genomics of PCOS: From GWAS to Molecular Mechanisms

    Science.gov (United States)

    McAllister, Jan M.; Legro, Richard S.; Modi, Bhavi P.; Strauss, Jerome F.

    2015-01-01

    Polycystic ovary syndrome (PCOS) is a common endocrinopathy characterized by increased ovarian androgen biosynthesis, anovulation, and infertility. PCOS has a strong heritable component based on familial clustering and twin studies. Genome-wide association studies (GWAS) identified several PCOS candidate loci including, DENND1A, LHCGR, FSHR, ZNF217, YAP1, INSR, RAB5B, and C9orf3. Here, we review the functional roles of strong PCOS candidate loci focusing on FSHR, LHCGR, INSR and DENND1A. We propose that these candidates comprise a hierarchical signaling network by which DENND1A, LHCGR, INSR, RAB5B, adapter proteins, and associated downstream signaling cascades converge to regulate theca cell androgen biosynthesis. Future elucidation of the functional gene networks predicted by the PCOS GWAS will result in new diagnostic and therapeutic approaches for women with PCOS. PMID:25600292

  19. SNPEVG: a graphical tool for GWAS graphing with mouse clicks.

    Science.gov (United States)

    Wang, Shengwen; Dvorkin, Daniel; Da, Yang

    2012-11-30

    Genome-wide association studies (GWAS) using single nucleotide polymorphism (SNP) markers generate large quantities of tests results. Global and local graphical viewing of the test results is an effective approach to digest and interpret GWAS results. SNPEVG is a set of graphical tools for instant global and local viewing and graphing of GWAS results for all chromosomes and for each trait. The current version includes three programs, SNPEVG1, SNPEVG2 and SNPEVG3. SNPEVG1 is a graphical tool for SNP effect viewing of P-values allowing multiple traits. The total number of graphs that can be generated by one 'Run' is n(c + 2), where n is number of 'traits' with 0 graphing is accomplished through a user friendly graphical user interface (GUI) that provides a wide-range of options for the user to choose. The GUI can produce the Manhattan plot, the Q-Q plot of all SNP effects, and graphs for SNP effects by chromosome by clicking one command. Any or all the graphs can be saved with publication quality by clicking one command. SNPEVG2 is for the viewing and graphing of multiple traits on the same graph with options to graph any or all of the traits, customizable colors and user specified Y1 or Y2 axis for each traits. The SNPEVG3 program uses the output file of single-locus test results from the epiSNP computer package as the input file. Each chromosome figure can display three genetic effects (genotypic, additive and dominance effects), and the number of observations. The SNPEVG package is a versatile, flexible and efficient graphical tool for rapid digestion of large quantities of GWAS results with mouse clicks.

  20. Unsupervised text mining for assessing and augmenting GWAS results.

    Science.gov (United States)

    Ailem, Melissa; Role, François; Nadif, Mohamed; Demenais, Florence

    2016-04-01

    Text mining can assist in the analysis and interpretation of large-scale biomedical data, helping biologists to quickly and cheaply gain confirmation of hypothesized relationships between biological entities. We set this question in the context of genome-wide association studies (GWAS), an actively emerging field that contributed to identify many genes associated with multifactorial diseases. These studies allow to identify groups of genes associated with the same phenotype, but provide no information about the relationships between these genes. Therefore, our objective is to leverage unsupervised text mining techniques using text-based cosine similarity comparisons and clustering applied to candidate and random gene vectors, in order to augment the GWAS results. We propose a generic framework which we used to characterize the relationships between 10 genes reported associated with asthma by a previous GWAS. The results of this experiment showed that the similarities between these 10 genes were significantly stronger than would be expected by chance (one-sided p-value<0.01). The clustering of observed and randomly selected gene also allowed to generate hypotheses about potential functional relationships between these genes and thus contributed to the discovery of new candidate genes for asthma. Copyright © 2016 Elsevier Inc. All rights reserved.

  1. Kansas Wind Energy Consortium

    Energy Technology Data Exchange (ETDEWEB)

    Gruenbacher, Don [Kansas State Univ., Manhattan, KS (United States)

    2015-12-31

    This project addresses both fundamental and applied research problems that will help with problems defined by the DOE “20% Wind by 2030 Report”. In particular, this work focuses on increasing the capacity of small or community wind generation capabilities that would be operated in a distributed generation approach. A consortium (KWEC – Kansas Wind Energy Consortium) of researchers from Kansas State University and Wichita State University aims to dramatically increase the penetration of wind energy via distributed wind power generation. We believe distributed generation through wind power will play a critical role in the ability to reach and extend the renewable energy production targets set by the Department of Energy. KWEC aims to find technical and economic solutions to enable widespread implementation of distributed renewable energy resources that would apply to wind.

  2. Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets

    Directory of Open Access Journals (Sweden)

    Max Lam

    2017-11-01

    Full Text Available Here, we present a large (n = 107,207 genome-wide association study (GWAS of general cognitive ability (“g”, further enhanced by combining results with a large-scale GWAS of educational attainment. We identified 70 independent genomic loci associated with general cognitive ability. Results showed significant enrichment for genes causing Mendelian disorders with an intellectual disability phenotype. Competitive pathway analysis implicated the biological processes of neurogenesis and synaptic regulation, as well as the gene targets of two pharmacologic agents: cinnarizine, a T-type calcium channel blocker, and LY97241, a potassium channel inhibitor. Transcriptome-wide and epigenome-wide analysis revealed that the implicated loci were enriched for genes expressed across all brain regions (most strongly in the cerebellum. Enrichment was exclusive to genes expressed in neurons but not oligodendrocytes or astrocytes. Finally, we report genetic correlations between cognitive ability and disparate phenotypes including psychiatric disorders, several autoimmune disorders, longevity, and maternal age at first birth.

  3. Hemoglobin genetics: recent contributions of GWAS and gene editing

    Science.gov (United States)

    Smith, Elenoe C.; Orkin, Stuart H.

    2016-01-01

    The β-hemoglobinopathies are inherited disorders resulting from altered coding potential or expression of the adult β-globin gene. Impaired expression of β-globin reduces adult hemoglobin (α2β2) production, the hallmark of β-thalassemia. A single-base mutation at codon 6 leads to formation of HbS (α2βS2) and sickle cell disease. While the basis of these diseases is known, therapy remains largely supportive. Bone marrow transplantation is the only curative therapy. Patients with elevated levels of fetal hemoglobin (HbF, α2γ2) as adults exhibit reduced symptoms and enhanced survival. The β-globin gene locus is a paradigm of cell- and developmental stage-specific regulation. Although the principal erythroid cell transcription factors are known, mechanisms responsible for silencing of the γ-globin gene were obscure until application of genome-wide association studies (GWAS). Here, we review findings in the field. GWAS identified BCL11A as a candidate negative regulator of γ-globin expression. Subsequent studies have established BCL11A as a quantitative repressor. GWAS-related single-nucleotide polymorphisms lie within an essential erythroid enhancer of the BCL11A gene. Disruption of a discrete region within the enhancer reduces BCL11A expression and induces HbF expression, providing the basis for gene therapy using gene editing tools. A recently identified, second silencing factor, leukemia/lymphoma-related factor/Pokemon, shares features with BCL11A, including interaction with the nucleosome remodeling deacetylase repressive complex. These findings suggest involvement of a common pathway for HbF silencing. In addition, we discuss other factors that may be involved in γ-globin gene silencing and their potential manipulation for therapeutic benefit in treating the β-hemoglobinopathies. PMID:27340226

  4. Horizons of Psychiatric Genetics and Epigenetics: Where Are We and Where Are We Heading?

    OpenAIRE

    Mostafavi Abdolmaleky, Hamid

    2014-01-01

    Today multinational studies using genome-wide association scan (GWAS) for >1000,000 polymorphisms on >100,000 cases with major psychiatric diseases versus controls, combined with next-generation sequencing have found ~100 genetic polymorphisms associated with schizophrenia (SCZ), bipolar disorder (BD), autism, attention deficit and hyperactivity disorder (ADHD), etc. However, the effect size of each genetic mutation has been generally low (

  5. Psychiatric Genomics

    DEFF Research Database (Denmark)

    Sullivan, Patrick F; Agrawal, Arpana; Bulik, Cynthia M

    2018-01-01

    into biologically, clinically, and therapeutically meaningful insights. The emerging findings suggest that we are entering a phase of accelerated genetic discovery for multiple psychiatric disorders. These findings are likely to elucidate the genetic portions of these truly complex traits, and this knowledge can...... then be mined for its relevance for improved therapeutics and its impact on psychiatric practice within a precision medicine framework. [AJP at 175: Remembering Our Past As We Envision Our Future November 1946: The Genetic Theory of Schizophrenia Franz Kallmann's influential twin study of schizophrenia in 691...

  6. The BADER Consortium

    Science.gov (United States)

    2013-10-01

    PhD. “Prosthetic Leg Prescription (ProLegRx): What is the optimal stiffness and height of a running-specific prosthesis ?” Recommended for funding...Alison Linberg, DPT. “Sustainable Benefits of a Powered Ankle Prosthesis for Transtibial K2 and K3 Ambulators.” Recommended for funding with...BiOM: The Director of the BADER Consortium was invited to participate in a local (Newark, DE) demonstration of the BiOM Bionic Lower Leg System. BiOM

  7. Genes-environment interactions in obesity- and diabetes-associated pancreatic cancer: a GWAS data analysis.

    Science.gov (United States)

    Tang, Hongwei; Wei, Peng; Duell, Eric J; Risch, Harvey A; Olson, Sara H; Bueno-de-Mesquita, H Bas; Gallinger, Steven; Holly, Elizabeth A; Petersen, Gloria M; Bracci, Paige M; McWilliams, Robert R; Jenab, Mazda; Riboli, Elio; Tjønneland, Anne; Boutron-Ruault, Marie Christine; Kaaks, Rudolf; Trichopoulos, Dimitrios; Panico, Salvatore; Sund, Malin; Peeters, Petra H M; Khaw, Kay-Tee; Amos, Christopher I; Li, Donghui

    2014-01-01

    Obesity and diabetes are potentially alterable risk factors for pancreatic cancer. Genetic factors that modify the associations of obesity and diabetes with pancreatic cancer have previously not been examined at the genome-wide level. Using genome-wide association studies (GWAS) genotype and risk factor data from the Pancreatic Cancer Case Control Consortium, we conducted a discovery study of 2,028 cases and 2,109 controls to examine gene-obesity and gene-diabetes interactions in relation to pancreatic cancer risk by using the likelihood-ratio test nested in logistic regression models and Ingenuity Pathway Analysis (IPA). After adjusting for multiple comparisons, a significant interaction of the chemokine signaling pathway with obesity (P = 3.29 × 10(-6)) and a near significant interaction of calcium signaling pathway with diabetes (P = 1.57 × 10(-4)) in modifying the risk of pancreatic cancer were observed. These findings were supported by results from IPA analysis of the top genes with nominal interactions. The major contributing genes to the two top pathways include GNGT2, RELA, TIAM1, and GNAS. None of the individual genes or single-nucleotide polymorphism (SNP) except one SNP remained significant after adjusting for multiple testing. Notably, SNP rs10818684 of the PTGS1 gene showed an interaction with diabetes (P = 7.91 × 10(-7)) at a false discovery rate of 6%. Genetic variations in inflammatory response and insulin resistance may affect the risk of obesity- and diabetes-related pancreatic cancer. These observations should be replicated in additional large datasets. A gene-environment interaction analysis may provide new insights into the genetic susceptibility and molecular mechanisms of obesity- and diabetes-related pancreatic cancer.

  8. Genes-environment interactions in obesity- and diabetes-associated pancreatic cancer: A GWAS data analysis

    Science.gov (United States)

    Tang, Hongwei; Wei, Peng; Duell, Eric J.; Risch, Harvey A.; Olson, Sara H.; Bueno-de-Mesquita, H. Bas; Gallinger, Steven; Holly, Elizabeth A.; Petersen, Gloria M.; Bracci, Paige M.; McWilliams, Robert R.; Jenab, Mazda; Riboli, Elio; Tjønneland, Anne; Boutron-Ruault, Marie Christine; Kaaks, Rudolf; Trichopoulos, Dimitrios; Panico, Salvatore; Sund, Malin; Peeters, Petra H.M; Khaw, Kay-Tee; Amos, Christopher I; Li, Donghui

    2013-01-01

    Background Obesity and diabetes are potentially alterable risk factors for pancreatic cancer. Genetic factors that modify the associations of obesity and diabetes with pancreatic cancer have previously not been examined at the genome-wide level. Methods Using GWAS genotype and risk factor data from the Pancreatic Cancer Case Control Consortium, we conducted a discovery study of 2,028 cases and 2,109 controls to examine gene-obesity and gene-diabetes interactions in relation to pancreatic cancer risk by employing the likelihood ratio test (LRT) nested in logistic regression models and Ingenuity Pathway Analysis (IPA). Results After adjusting for multiple comparisons, a significant interaction of the chemokine signaling pathway with obesity (P = 3.29 × 10−6) and a near significant interaction of calcium signaling pathway with diabetes (P = 1.57 × 10−4) in modifying the risk of pancreatic cancer was observed. These findings were supported by results from IPA analysis of the top genes with nominal interactions. The major contributing genes to the two top pathways include GNGT2, RELA, TIAM1 and GNAS. None of the individual genes or SNPs except one SNP remained significant after adjusting for multiple testing. Notably, SNP rs10818684 of the PTGS1 gene showed an interaction with diabetes (P = 7.91 × 10−7) at a false discovery rate of 6%. Conclusions Genetic variations in inflammatory response and insulin resistance may affect the risk of obesity and diabetes-related pancreatic cancer. These observations should be replicated in additional large datasets. Impact Gene-environment interaction analysis may provide new insights into the genetic susceptibility and molecular mechanisms of obesity- and diabetes-related pancreatic cancer. PMID:24136929

  9. The International Human Epigenome Consortium

    DEFF Research Database (Denmark)

    Stunnenberg, Hendrik G; Hirst, Martin

    2016-01-01

    The International Human Epigenome Consortium (IHEC) coordinates the generation of a catalog of high-resolution reference epigenomes of major primary human cell types. The studies now presented (see the Cell Press IHEC web portal at http://www.cell.com/consortium/IHEC) highlight the coordinated ac...

  10. The Neuroscience Peer Review Consortium

    Directory of Open Access Journals (Sweden)

    Maunsell John HR

    2009-03-01

    Full Text Available Abstract As the Neuroscience Peer Review Consortium (NPRC ends its first year, it is worth looking back to see how the experiment has worked. In order to encourage dissemination of the details outlined in this Editorial, it will also be published in other journals in the Neuroscience Peer Review Consortium.

  11. Hawaii Space Grant Consortium

    Science.gov (United States)

    Flynn, Luke P.

    2005-01-01

    The Hawai'i Space Grant Consortium is composed of ten institutions of higher learning including the University of Hawai'i at Manoa, the University of Hawai'i at Hilo, the University of Guam, and seven Community Colleges spread over the 4 main Hawaiian islands. Geographic separation is not the only obstacle that we face as a Consortium. Hawai'i has been mired in an economic downturn due to a lack of tourism for almost all of the period (2001 - 2004) covered by this report, although hotel occupancy rates and real estate sales have sky-rocketed in the last year. Our challenges have been many including providing quality educational opportunities in the face of shrinking State and Federal budgets, encouraging science and technology course instruction at the K-12 level in a public school system that is becoming less focused on high technology and more focused on developing basic reading and math skills, and assembling community college programs with instructors who are expected to teach more classes for the same salary. Motivated people can overcome these problems. Fortunately, the Hawai'i Space Grant Consortium (HSGC) consists of a group of highly motivated and talented individuals who have not only overcome these obstacles, but have excelled with the Program. We fill a critical need within the State of Hawai'i to provide our children with opportunities to pursue their dreams of becoming the next generation of NASA astronauts, engineers, and explorers. Our strength lies not only in our diligent and creative HSGC advisory board, but also with Hawai'i's teachers, students, parents, and industry executives who are willing to invest their time, effort, and resources into Hawai'i's future. Our operational philosophy is to FACE the Future, meaning that we will facilitate, administer, catalyze, and educate in order to achieve our objective of creating a highly technically capable workforce both here in Hawai'i and for NASA. In addition to administering to programs and

  12. Nuclear Fabrication Consortium

    Energy Technology Data Exchange (ETDEWEB)

    Levesque, Stephen [EWI, Columbus, OH (United States)

    2013-04-05

    This report summarizes the activities undertaken by EWI while under contract from the Department of Energy (DOE) Office of Nuclear Energy (NE) for the management and operation of the Nuclear Fabrication Consortium (NFC). The NFC was established by EWI to independently develop, evaluate, and deploy fabrication approaches and data that support the re-establishment of the U.S. nuclear industry: ensuring that the supply chain will be competitive on a global stage, enabling more cost-effective and reliable nuclear power in a carbon constrained environment. The NFC provided a forum for member original equipment manufactures (OEM), fabricators, manufacturers, and materials suppliers to effectively engage with each other and rebuild the capacity of this supply chain by : Identifying and removing impediments to the implementation of new construction and fabrication techniques and approaches for nuclear equipment, including system components and nuclear plants. Providing and facilitating detailed scientific-based studies on new approaches and technologies that will have positive impacts on the cost of building of nuclear plants. Analyzing and disseminating information about future nuclear fabrication technologies and how they could impact the North American and the International Nuclear Marketplace. Facilitating dialog and initiate alignment among fabricators, owners, trade associations, and government agencies. Supporting industry in helping to create a larger qualified nuclear supplier network. Acting as an unbiased technology resource to evaluate, develop, and demonstrate new manufacturing technologies. Creating welder and inspector training programs to help enable the necessary workforce for the upcoming construction work. Serving as a focal point for technology, policy, and politically interested parties to share ideas and concepts associated with fabrication across the nuclear industry. The report the objectives and summaries of the Nuclear Fabrication Consortium

  13. GWAS of clinically defined gout and subtypes identifies multiple susceptibility loci that include urate transporter genes

    NARCIS (Netherlands)

    Nakayama, A.; Nakaoka, H.; Yamamoto, K.; Sakiyama, M.; Shaukat, A.; Toyoda, Y.; Okada, Y.; Kamatani, Y.; Nakamura, T.; Takada, T.; Inoue, K.; Yasujima, T.; Yuasa, H.; Shirahama, Y.; Nakashima, H.; Shimizu, S.; Higashino, T.; Kawamura, Y.; Ogata, H.; Kawaguchi, M.; Ohkawa, Y.; Danjoh, I.; Tokumasu, A.; Ooyama, K.; Ito, T.; Kondo, T.; Wakai, K.; Stiburkova, B.; Pavelka, K.; Stamp, L.K.; Dalbeth, N.; Sakurai, Y.; Suzuki, H; Hosoyamada, M.; Fujimori, S.; Yokoo, T.; Hosoya, T.; Inoue, I.; Takahashi, A.; Kubo, M.; Ooyama, H.; Shimizu, T.; Ichida, K.; Shinomiya, N.; Merriman, T.R.; Matsuo, H.; Andres, M; Joosten, L.A.; Janssen, M.C.H.; Jansen, T.L.; Liote, F.; Radstake, T.R.; Riches, P.L.; So, A.; Tauches, A.K.

    2017-01-01

    OBJECTIVE: A genome-wide association study (GWAS) of gout and its subtypes was performed to identify novel gout loci, including those that are subtype-specific. METHODS: Putative causal association signals from a GWAS of 945 clinically defined gout cases and 1213 controls from Japanese males were

  14. Development of GMDR-GPU for gene-gene interaction analysis and its application to WTCCC GWAS data for type 2 diabetes.

    Directory of Open Access Journals (Sweden)

    Zhixiang Zhu

    Full Text Available Although genome-wide association studies (GWAS have identified a significant number of single-nucleotide polymorphisms (SNPs associated with many complex human traits, the susceptibility loci identified so far can explain only a small fraction of the genetic risk. Among other possible explanations, the lack of a comprehensive examination of gene-gene interaction (G×G is often considered a source of the missing heritability. Previously, we reported a model-free Generalized Multifactor Dimensionality Reduction (GMDR approach for detecting G×G in both dichotomous and quantitative phenotypes. However, the computational burden and less efficient implementation of the original programs make them impossible to use for GWAS. In this study, we developed a graphics processing unit (GPU-based GMDR program (named GWAS-GPU, which is able not only to analyze GWAS data but also to run much faster than the earlier version of the GMDR program. As a demonstration of the program, we used the GMDR-GPU software to analyze a publicly available GWAS dataset on type 2 diabetes (T2D from the Wellcome Trust Case Control Consortium. Through an exhaustive search of pair-wise interactions and a selected search of three- to five-way interactions conditioned on significant pair-wise results, we identified 24 core SNPs in six genes (FTO: rs9939973, rs9940128, rs9922047, rs1121980, rs9939609, rs9930506; TSPAN8: rs1495377; TCF7L2: rs4074720, rs7901695, rs4506565, rs4132670, rs10787472, rs11196205, rs10885409, rs11196208; L3MBTL3: rs10485400, rs4897366; CELF4: rs2852373, rs608489; RUNX1: rs445984, rs1040328, rs990074, rs2223046, rs2834970 that appear to be important for T2D. Of these core SNPs, 11 in FTO, TSPAN8, and TCF7L2 have been reported to be associated with T2D, obesity, or both, providing an independent replication of previously reported SNPs. Importantly, we identified three new susceptibility genes; i.e., L3MBTL3, CELF4, and RUNX1, for T2D, a finding that warrants

  15. Identification of risk loci with shared effects on five major psychiatric disorders

    DEFF Research Database (Denmark)

    Steinhausen, Hans-Christoph E.; Strauss, John; Strohmaier, Jana

    2013-01-01

    Findings from family and twin studies suggest that genetic contributions to psychiatric disorders do not in all cases map to present diagnostic categories. We aimed to identify specific variants underlying genetic effects shared between the five disorders in the Psychiatric Genomics Consortium......: autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia....

  16. Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

    DEFF Research Database (Denmark)

    Lee, S Hong; Ripke, Stephan; Neale, Benjamin M

    2013-01-01

    Most psychiatric disorders are moderately to highly heritable. The degree to which genetic variation is unique to individual disorders or shared across disorders is unclear. To examine shared genetic etiology, we use genome-wide genotype data from the Psychiatric Genomics Consortium (PGC) for cas...

  17. Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

    NARCIS (Netherlands)

    Lee, S. Hong; Ripke, Stephan; Neale, Benjamin M.; Faraone, Stephen V.; Purcell, Shaun M.; Perlis, Roy H.; Mowry, Bryan J.; Thapar, Anita; Goddard, Michael E.; Witte, John S.; Absher, Devin; Agartz, Ingrid; Akil, Huda; Amin, Farooq; Andreassen, Ole A.; Anjorin, Adebayo; Anney, Richard; Anttila, Verneri; Arking, Dan E.; Asherson, Philip; Azevedo, Maria H.; Backlund, Lena; Badner, Judith A.; Bailey, Anthony J.; Banaschewski, Tobias; Barchas, Jack D.; Barnes, Michael R.; Barrett, Thomas B.; Bass, Nicholas; Battaglia, Agatino; Bauer, Michael; Bayes, Monica; Bellivier, Frank; Bergen, Sarah E.; Berrettini, Wade; Betancur, Catalina; Bettecken, Thomas; Biederman, Joseph; Binder, Elisabeth B.; Black, Donald W.; Blackwood, Douglas H. R.; Bloss, Cinnamon S.; Boehnke, Michael; Boomsma, Dorret I.; Breen, Gerome; Breuer, Rene; Bruggeman, Richard; Cormican, Paul; Buccola, Nancy G.; Buitelaar, Jan K.; Bunney, William E.; Buxbaum, Joseph D.; Byerley, William F.; Byrne, Enda M.; Caesar, Sian; Cahn, Wiepke; Cantor, Rita M.; Casas, Miguel; Chakravarti, Aravinda; Chambert, Kimberly; Choudhury, Khalid; Cichon, Sven; Cloninger, C. Robert; Collier, David A.; Cook, Edwin H.; Coon, Hilary; Cormand, Bru; Corvin, Aiden; Coryell, William H.; Craig, David W.; Craig, Ian W.; Crosbie, Jennifer; Cuccaro, Michael L.; Curtis, David; Czamara, Darina; Datta, Susmita; Dawson, Geraldine; Day, Richard; De Geus, Eco J.; Degenhardt, Franziska; Djurovic, Srdjan; Donohoe, Gary J.; Doyle, Alysa E.; Duan, Jubao; Dudbridge, Frank; Duketis, Eftichia; Ebstein, Richard P.; Edenberg, Howard J.; Elia, Josephine; Ennis, Sean; Etain, Bruno; Fanous, Ayman; Farmer, Anne E.; Ferrier, I. Nicol; Flickinger, Matthew; Fombonne, Eric; Foroud, Tatiana; Frank, Josef; Franke, Barbara; Fraser, Christine; Freedman, Robert; Freimer, Nelson B.; Freitag, Christine M.; Friedl, Marion; Frisen, Louise; Gallagher, Louise; Gejman, Pablo V.; Georgieva, Lyudmila; Gershon, Elliot S.; Geschwind, Daniel H.; Giegling, Ina; Gill, Michael; Gordon, Scott D.; Gordon-Smith, Katherine; Green, Elaine K.; Greenwood, Tiffany A.; Grice, Dorothy E.; Gross, Magdalena; Grozeva, Detelina; Guan, Weihua; Gurling, Hugh; De Haan, Lieuwe; Haines, Jonathan L.; Hakonarson, Hakon; Hallmayer, Joachim; Hamilton, Steven P.; Hamshere, Marian L.; Hansen, Thomas F.; Hartmann, Annette M.; Hautzinger, Martin; Heath, Andrew C.; Henders, Anjali K.; Herms, Stefan; Hickie, Ian B.; Hipolito, Maria; Hoefels, Susanne; Holmans, Peter A.; Holsboer, Florian; Hoogendijk, Witte J.; Hottenga, Jouke-Jan; Hultman, Christina M.; Hus, Vanessa; Ingason, Andres; Ising, Marcus; Jamain, Stephane; Jones, Edward G.; Jones, Ian; Jones, Lisa; Tzeng, Jung-Ying; Kaehler, Anna K.; Kahn, Rene S.; Kandaswamy, Radhika; Keller, Matthew C.; Kennedy, James L.; Kenny, Elaine; Kent, Lindsey; Kim, Yunjung; Kirov, George K.; Klauck, Sabine M.; Klei, Lambertus; Knowles, James A.; Kohli, Martin A.; Koller, Daniel L.; Konte, Bettina; Korszun, Ania; Krabbendam, Lydia; Krasucki, Robert; Kuntsi, Jonna; Kwan, Phoenix; Landen, Mikael; Langstrom, Niklas; Lathrop, Mark; Lawrence, Jacob; Lawson, William B.; Leboyer, Marion; Ledbetter, David H.; Lee, Phil H.; Lencz, Todd; Lesch, Klaus-Peter; Levinson, Douglas F.; Lewis, Cathryn M.; Li, Jun; Lichtenstein, Paul; Lieberman, Jeffrey A.; Lin, Dan-Yu; Linszen, Don H.; Liu, Chunyu; Lohoff, Falk W.; Loo, Sandra K.; Lord, Catherine; Lowe, Jennifer K.; Lucae, Susanne; MacIntyre, Donald J.; Madden, Pamela A. F.; Maestrini, Elena; Magnusson, Patrik K. E.; Mahon, Pamela B.; Maier, Wolfgang; Malhotra, Anil K.; Mane, Shrikant M.; Martin, Christa L.; Martin, Nicholas G.; Mattheisen, Manuel; Matthews, Keith; Mattingsdal, Morten; McCarroll, Steven A.; McGhee, Kevin A.; McGough, James J.; McGrath, Patrick J.; McGuffin, Peter; McInnis, Melvin G.; McIntosh, Andrew; McKinney, Rebecca; McLean, Alan W.; McMahon, Francis J.; McMahon, William M.; McQuillin, Andrew; Medeiros, Helena; Medland, Sarah E.; Meier, Sandra; Melle, Ingrid; Meng, Fan; Meyer, Jobst; Middeldorp, Christel M.; Middleton, Lefkos; Milanova, Vihra; Miranda, Ana; Monaco, Anthony P.; Montgomery, Grant W.; Moran, Jennifer L.; Moreno-De-Luca, Daniel; Morken, Gunnar; Morris, Derek W.; Morrow, Eric M.; Moskvina, Valentina; Muglia, Pierandrea; Muehleisen, Thomas W.; Muir, Walter J.; Mueller-Myhsok, Bertram; Murtha, Michael; Myers, Richard M.; Myin-Germeys, Inez; Neale, Michael C.; Nelson, Stan F.; Nievergelt, Caroline M.; Nikolov, Ivan; Nimgaonkar, Vishwajit; Nolen, Willem A.; Noethen, Markus M.; Nurnberger, John I.; Nwulia, Evaristus A.; Nyholt, Dale R.; O'Dushlaine, Colm; Oades, Robert D.; Olincy, Ann; Oliveira, Guiomar; Olsen, Line; Ophoff, Roel A.; Osby, Urban; Owen, Michael J.; Palotie, Aarno; Parr, Jeremy R.; Paterson, Andrew D.; Pato, Carlos N.; Pato, Michele T.; Penninx, Brenda W.; Pergadia, Michele L.; Pericak-Vance, Margaret A.; Pickard, Benjamin S.; Pimm, Jonathan; Piven, Joseph; Posthuma, Danielle; Potash, James B.; Poustka, Fritz; Propping, Peter; Puri, Vinay; Quested, Digby J.; Quinn, Emma M.; Antoni Ramos-Quiroga, Josep; Rasmussen, Henrik B.; Raychaudhuri, Soumya; Rehnstroem, Karola; Reif, Andreas; Ribases, Marta; Rice, John P.; Rietschel, Marcella; Roeder, Kathryn; Roeyers, Herbert; Rossin, Lizzy; Rothenberger, Aribert; Rouleau, Guy; Ruderfer, Douglas; Rujescu, Dan; Sanders, Alan R.; Sanders, Stephan J.; Santangelo, Susan L.; Sergeant, Joseph A.; Schachar, Russell; Schalling, Martin; Schatzberg, Alan F.; Scheftner, William A.; Schellenberg, Gerard D.; Scherer, Stephen W.; Schork, Nicholas J.; Schulze, Thomas G.; Schumacher, Johannes; Schwarz, Markus; Scolnick, Edward; Scott, Laura J.; Shi, Jianxin; Shilling, Paul D.; Shyn, Stanley I.; Silverman, Jeremy M.; Slager, Susan L.; Smalley, Susan L.; Smit, Johannes H.; Smith, Erin N.; Sonuga-Barke, Edmund J. S.; St Clair, David; State, Matthew; Steffens, Michael; Steinhausen, Hans-Christoph; Strauss, John S.; Strohmaier, Jana; Stroup, T. Scott; Sutcliffe, James S.; Szatmari, Peter; Szelinger, Szabocls; Thirumalai, Srinivasa; Thompson, Robert C.; Todorov, Alexandre A.; Tozzi, Federica; Treutlein, Jens; Uhr, Manfred; van den Oord, Edwin J. C. G.; Van Grootheest, Gerard; Van Os, Jim; Vicente, Astrid M.; Vieland, Veronica J.; Vincent, John B.; Visscher, Peter M.; Walsh, Christopher A.; Wassink, Thomas H.; Watson, Stanley J.; Weissman, Myrna M.; Werge, Thomas; Wienker, Thomas F.; Wijsman, Ellen M.; Willemsen, Gonneke; Williams, Nigel; Willsey, A. Jeremy; Witt, Stephanie H.; Xu, Wei; Young, Allan H.; Yu, Timothy W.; Zammit, Stanley; Zandi, Peter P.; Zhang, Peng; Zitman, Frans G.; Zoellner, Sebastian; Devlin, Bernie; Kelsoe, John R.; Sklar, Pamela; Daly, Mark J.; O'Donovan, Michael C.; Craddock, Nicholas; Sullivan, Patrick F.; Smoller, Jordan W.; Kendler, Kenneth S.; Wray, Naomi R.

    Most psychiatric disorders are moderately to highly heritable. The degree to which genetic variation is unique to individual disorders or shared across disorders is unclear. To examine shared genetic etiology, we use genome-wide genotype data from the Psychiatric Genomics Consortium (PGC) for cases

  18. Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

    NARCIS (Netherlands)

    Lee, S. Hong; Ripke, Stephan; Neale, Benjamin M.; Faraone, Stephen V.; Purcell, Shaun M.; Perlis, Roy H.; Mowry, Bryan J.; Thapar, Anita; Goddard, Michael E.; Witte, John S.; Absher, Devin; Agartz, Ingrid; Akil, Huda; Amin, Farooq; Andreassen, Ole A.; Anjorin, Adebayo; Anney, Richard; Anttila, Verneri; Arking, Dan E.; Asherson, Philip; Azevedo, Maria H.; Backlund, Lena; Badner, Judith A.; Bailey, Anthony J.; Banaschewski, Tobias; Barchas, Jack D.; Barnes, Michael R.; Barrett, Thomas B.; Bass, Nicholas; Battaglia, Agatino; Bauer, Michael; Bayés, Mònica; Bellivier, Frank; Bergen, Sarah E.; Berrettini, Wade; Betancur, Catalina; Bettecken, Thomas; Biederman, Joseph; Binder, Elisabeth B.; Black, Donald W.; Blackwood, Douglas H. R.; Bloss, Cinnamon S.; Boehnke, Michael; Boomsma, Dorret I.; Breen, Gerome; Breuer, René; Bruggeman, Richard; Cormican, Paul; Buccola, Nancy G.; Buitelaar, Jan K.; Bunney, William E.; Buxbaum, Joseph D.; Byerley, William F.; Byrne, Enda M.; Caesar, Sian; Cahn, Wiepke; Cantor, Rita M.; Casas, Miguel; Chakravarti, Aravinda; Chambert, Kimberly; Choudhury, Khalid; Cichon, Sven; Cloninger, C. Robert; Collier, David A.; Cook, Edwin H.; Coon, Hilary; Cormand, Bru; Corvin, Aiden; Coryell, William H.; Craig, David W.; Craig, Ian W.; Crosbie, Jennifer; Cuccaro, Michael L.; Curtis, David; Czamara, Darina; Datta, Susmita; Dawson, Geraldine; Day, Richard; de Geus, Eco J.; Degenhardt, Franziska; Djurovic, Srdjan; Donohoe, Gary J.; Doyle, Alysa E.; Duan, Jubao; Dudbridge, Frank; Duketis, Eftichia; Ebstein, Richard P.; Edenberg, Howard J.; Elia, Josephine; Ennis, Sean; Etain, Bruno; Fanous, Ayman; Farmer, Anne E.; Ferrier, I. Nicol; Flickinger, Matthew; Fombonne, Eric; Foroud, Tatiana; Frank, Josef; Franke, Barbara; Fraser, Christine; Freedman, Robert; Freimer, Nelson B.; Freitag, Christine M.; Friedl, Marion; Frisén, Louise; Gallagher, Louise; Gejman, Pablo V.; Georgieva, Lyudmila; Gershon, Elliot S.; Geschwind, Daniel H.; Giegling, Ina; Gill, Michael; Gordon, Scott D.; Gordon-Smith, Katherine; Green, Elaine K.; Greenwood, Tiffany A.; Grice, Dorothy E.; Gross, Magdalena; Grozeva, Detelina; Guan, Weihua; Gurling, Hugh; de Haan, Lieuwe; Haines, Jonathan L.; Hakonarson, Hakon; Hallmayer, Joachim; Hamilton, Steven P.; Hamshere, Marian L.; Hansen, Thomas F.; Hartmann, Annette M.; Hautzinger, Martin; Heath, Andrew C.; Henders, Anjali K.; Herms, Stefan; Hickie, Ian B.; Hipolito, Maria; Hoefels, Susanne; Holmans, Peter A.; Holsboer, Florian; Hoogendijk, Witte J.; Hottenga, Jouke-Jan; Hultman, Christina M.; Hus, Vanessa; Ingason, Andrés; Ising, Marcus; Jamain, Stéphane; Jones, Edward G.; Jones, Ian; Jones, Lisa; Tzeng, Jung-Ying; Kähler, Anna K.; Kahn, René S.; Kandaswamy, Radhika; Keller, Matthew C.; Kennedy, James L.; Kenny, Elaine; Kent, Lindsey; Kim, Yunjung; Kirov, George K.; Klauck, Sabine M.; Klei, Lambertus; Knowles, James A.; Kohli, Martin A.; Koller, Daniel L.; Konte, Bettina; Korszun, Ania; Krabbendam, Lydia; Krasucki, Robert; Kuntsi, Jonna; Kwan, Phoenix; Landén, Mikael; Långström, Niklas; Lathrop, Mark; Lawrence, Jacob; Lawson, William B.; Leboyer, Marion; Ledbetter, David H.; Lee, Phil H.; Lencz, Todd; Lesch, Klaus-Peter; Levinson, Douglas F.; Lewis, Cathryn M.; Li, Jun; Lichtenstein, Paul; Lieberman, Jeffrey A.; Lin, Dan-Yu; Linszen, Don H.; Liu, Chunyu; Lohoff, Falk W.; Loo, Sandra K.; Lord, Catherine; Lowe, Jennifer K.; Lucae, Susanne; MacIntyre, Donald J.; Madden, Pamela A. F.; Maestrini, Elena; Magnusson, Patrik K. E.; Mahon, Pamela B.; Maier, Wolfgang; Malhotra, Anil K.; Mane, Shrikant M.; Martin, Christa L.; Martin, Nicholas G.; Mattheisen, Manuel; Matthews, Keith; Mattingsdal, Morten; McCarroll, Steven A.; McGhee, Kevin A.; McGough, James J.; McGrath, Patrick J.; McGuffin, Peter; McInnis, Melvin G.; McIntosh, Andrew; McKinney, Rebecca; McLean, Alan W.; McMahon, Francis J.; McMahon, William M.; McQuillin, Andrew; Medeiros, Helena; Medland, Sarah E.; Meier, Sandra; Melle, Ingrid; Meng, Fan; Meyer, Jobst; Middeldorp, Christel M.; Middleton, Lefkos; Milanova, Vihra; Miranda, Ana; Monaco, Anthony P.; Montgomery, Grant W.; Moran, Jennifer L.; Moreno-de-Luca, Daniel; Morken, Gunnar; Morris, Derek W.; Morrow, Eric M.; Moskvina, Valentina; Muglia, Pierandrea; Mühleisen, Thomas W.; Muir, Walter J.; Müller-Myhsok, Bertram; Murtha, Michael; Myers, Richard M.; Myin-Germeys, Inez; Neale, Michael C.; Nelson, Stan F.; Nievergelt, Caroline M.; Nikolov, Ivan; Nimgaonkar, Vishwajit; Nolen, Willem A.; Nöthen, Markus M.; Nurnberger, John I.; Nwulia, Evaristus A.; Nyholt, Dale R.; O'Dushlaine, Colm; Oades, Robert D.; Olincy, Ann; Oliveira, Guiomar; Olsen, Line; Ophoff, Roel A.; Osby, Urban; Owen, Michael J.; Palotie, Aarno; Parr, Jeremy R.; Paterson, Andrew D.; Pato, Carlos N.; Pato, Michele T.; Penninx, Brenda W.; Pergadia, Michele L.; Pericak-Vance, Margaret A.; Pickard, Benjamin S.; Pimm, Jonathan; Piven, Joseph; Posthuma, Danielle; Potash, James B.; Poustka, Fritz; Propping, Peter; Puri, Vinay; Quested, Digby J.; Quinn, Emma M.; Ramos-Quiroga, Josep Antoni; Rasmussen, Henrik B.; Raychaudhuri, Soumya; Rehnström, Karola; Reif, Andreas; Ribasés, Marta; Rice, John P.; Rietschel, Marcella; Roeder, Kathryn; Roeyers, Herbert; Rossin, Lizzy; Rothenberger, Aribert; Rouleau, Guy; Ruderfer, Douglas; Rujescu, Dan; Sanders, Alan R.; Sanders, Stephan J.; Santangelo, Susan L.; Sergeant, Joseph A.; Schachar, Russell; Schalling, Martin; Schatzberg, Alan F.; Scheftner, William A.; Schellenberg, Gerard D.; Scherer, Stephen W.; Schork, Nicholas J.; Schulze, Thomas G.; Schumacher, Johannes; Schwarz, Markus; Scolnick, Edward; Scott, Laura J.; Shi, Jianxin; Shilling, Paul D.; Shyn, Stanley I.; Silverman, Jeremy M.; Slager, Susan L.; Smalley, Susan L.; Smit, Johannes H.; Smith, Erin N.; Sonuga-Barke, Edmund J. S.; St Clair, David; State, Matthew; Steffens, Michael; Steinhausen, Hans-Christoph; Strauss, John S.; Strohmaier, Jana; Stroup, T. Scott; Sutcliffe, James S.; Szatmari, Peter; Szelinger, Szabocls; Thirumalai, Srinivasa; Thompson, Robert C.; Todorov, Alexandre A.; Tozzi, Federica; Treutlein, Jens; Uhr, Manfred; van den Oord, Edwin J. C. G.; van Grootheest, Gerard; van Os, Jim; Vicente, Astrid M.; Vieland, Veronica J.; Vincent, John B.; Visscher, Peter M.; Walsh, Christopher A.; Wassink, Thomas H.; Watson, Stanley J.; Weissman, Myrna M.; Werge, Thomas; Wienker, Thomas F.; Wijsman, Ellen M.; Willemsen, Gonneke; Williams, Nigel; Willsey, A. Jeremy; Witt, Stephanie H.; Xu, Wei; Young, Allan H.; Yu, Timothy W.; Zammit, Stanley; Zandi, Peter P.; Zhang, Peng; Zitman, Frans G.; Zöllner, Sebastian; Devlin, Bernie; Kelsoe, John R.; Sklar, Pamela; Daly, Mark J.; O'Donovan, Michael C.; Craddock, Nicholas; Sullivan, Patrick F.; Smoller, Jordan W.; Kendler, Kenneth S.; Wray, Naomi R.

    2013-01-01

    Most psychiatric disorders are moderately to highly heritable. The degree to which genetic variation is unique to individual disorders or shared across disorders is unclear. To examine shared genetic etiology, we use genome-wide genotype data from the Psychiatric Genomics Consortium (PGC) for cases

  19. Gas Storage Technology Consortium

    Energy Technology Data Exchange (ETDEWEB)

    Joel Morrison; Elizabeth Wood; Barbara Robuck

    2010-09-30

    The EMS Energy Institute at The Pennsylvania State University (Penn State) has managed the Gas Storage Technology Consortium (GSTC) since its inception in 2003. The GSTC infrastructure provided a means to accomplish industry-driven research and development designed to enhance the operational flexibility and deliverability of the nation's gas storage system, and provide a cost-effective, safe, and reliable supply of natural gas to meet domestic demand. The GSTC received base funding from the U.S. Department of Energy's (DOE) National Energy Technology Laboratory (NETL) Oil & Natural Gas Supply Program. The GSTC base funds were highly leveraged with industry funding for individual projects. Since its inception, the GSTC has engaged 67 members. The GSTC membership base was diverse, coming from 19 states, the District of Columbia, and Canada. The membership was comprised of natural gas storage field operators, service companies, industry consultants, industry trade organizations, and academia. The GSTC organized and hosted a total of 18 meetings since 2003. Of these, 8 meetings were held to review, discuss, and select proposals submitted for funding consideration. The GSTC reviewed a total of 75 proposals and committed co-funding to support 31 industry-driven projects. The GSTC committed co-funding to 41.3% of the proposals that it received and reviewed. The 31 projects had a total project value of $6,203,071 of which the GSTC committed $3,205,978 in co-funding. The committed GSTC project funding represented an average program cost share of 51.7%. Project applicants provided an average program cost share of 48.3%. In addition to the GSTC co-funding, the consortium provided the domestic natural gas storage industry with a technology transfer and outreach infrastructure. The technology transfer and outreach were conducted by having project mentoring teams and a GSTC website, and by working closely with the Pipeline Research Council International (PRCI) to

  20. Psychiatric Genomics: An Update and an Agenda.

    Science.gov (United States)

    Sullivan, Patrick F; Agrawal, Arpana; Bulik, Cynthia M; Andreassen, Ole A; Børglum, Anders D; Breen, Gerome; Cichon, Sven; Edenberg, Howard J; Faraone, Stephen V; Gelernter, Joel; Mathews, Carol A; Nievergelt, Caroline M; Smoller, Jordan W; O'Donovan, Michael C

    2018-01-01

    The Psychiatric Genomics Consortium (PGC) is the largest consortium in the history of psychiatry. This global effort is dedicated to rapid progress and open science, and in the past decade it has delivered an increasing flow of new knowledge about the fundamental basis of common psychiatric disorders. The PGC has recently commenced a program of research designed to deliver "actionable" findings-genomic results that 1) reveal fundamental biology, 2) inform clinical practice, and 3) deliver new therapeutic targets. The central idea of the PGC is to convert the family history risk factor into biologically, clinically, and therapeutically meaningful insights. The emerging findings suggest that we are entering a phase of accelerated genetic discovery for multiple psychiatric disorders. These findings are likely to elucidate the genetic portions of these truly complex traits, and this knowledge can then be mined for its relevance for improved therapeutics and its impact on psychiatric practice within a precision medicine framework. [AJP at 175: Remembering Our Past As We Envision Our Future November 1946: The Genetic Theory of Schizophrenia Franz Kallmann's influential twin study of schizophrenia in 691 twin pairs was the largest in the field for nearly four decades. (Am J Psychiatry 1946; 103:309-322 )].

  1. COnsortium of METabolomics Studies (COMETS)

    Science.gov (United States)

    The COnsortium of METabolomics Studies (COMETS) is an extramural-intramural partnership that promotes collaboration among prospective cohort studies that follow participants for a range of outcomes and perform metabolomic profiling of individuals.

  2. Atlantic Coast Environmental Indicators Consortium

    Data.gov (United States)

    Federal Laboratory Consortium — n 2000, the US EPA granted authority to establish up to five Estuarine Indicator Research Programs. These Programs were designed to identify, evaluate, recommend and...

  3. Hickory Consortium 2001 Final Report

    Energy Technology Data Exchange (ETDEWEB)

    2003-02-01

    As with all Building America Program consortia, systems thinking is the key to understanding the processes that Hickory Consortium hopes to improve. The Hickory Consortium applies this thinking to more than the whole-building concept. Their systems thinking embraces the meta process of how housing construction takes place in America. By understanding the larger picture, they are able to identify areas where improvements can be made and how to implement them.

  4. Effect of sample stratification on dairy GWAS results

    Directory of Open Access Journals (Sweden)

    Ma Li

    2012-10-01

    Full Text Available Abstract Background Artificial insemination and genetic selection are major factors contributing to population stratification in dairy cattle. In this study, we analyzed the effect of sample stratification and the effect of stratification correction on results of a dairy genome-wide association study (GWAS. Three methods for stratification correction were used: the efficient mixed-model association expedited (EMMAX method accounting for correlation among all individuals, a generalized least squares (GLS method based on half-sib intraclass correlation, and a principal component analysis (PCA approach. Results Historical pedigree data revealed that the 1,654 contemporary cows in the GWAS were all related when traced through approximately 10–15 generations of ancestors. Genome and phenotype stratifications had a striking overlap with the half-sib structure. A large elite half-sib family of cows contributed to the detection of favorable alleles that had low frequencies in the general population and high frequencies in the elite cows and contributed to the detection of X chromosome effects. All three methods for stratification correction reduced the number of significant effects. EMMAX method had the most severe reduction in the number of significant effects, and the PCA method using 20 principal components and GLS had similar significance levels. Removal of the elite cows from the analysis without using stratification correction removed many effects that were also removed by the three methods for stratification correction, indicating that stratification correction could have removed some true effects due to the elite cows. SNP effects with good consensus between different methods and effect size distributions from USDA’s Holstein genomic evaluation included the DGAT1-NIBP region of BTA14 for production traits, a SNP 45kb upstream from PIGY on BTA6 and two SNPs in NIBP on BTA14 for protein percentage. However, most of these consensus effects had

  5. A fine-mapping study of 7 top scoring genes from a GWAS for major depressive disorder.

    Directory of Open Access Journals (Sweden)

    Eva C Verbeek

    Full Text Available Major depressive disorder (MDD is a psychiatric disorder that is characterized--amongst others--by persistent depressed mood, loss of interest and pleasure and psychomotor retardation. Environmental circumstances have proven to influence the aetiology of the disease, but MDD also has an estimated 40% heritability, probably with a polygenic background. In 2009, a genome wide association study (GWAS was performed on the Dutch GAIN-MDD cohort. A non-synonymous coding single nucleotide polymorphism (SNP rs2522833 in the PCLO gene became only nominally significant after post-hoc analysis with an Australian cohort which used similar ascertainment. The absence of genome-wide significance may be caused by low SNP coverage of genes. To increase SNP coverage to 100% for common variants (m.a.f.>0.1, r(2>0.8, we selected seven genes from the GAIN-MDD GWAS: PCLO, GZMK, ANPEP, AFAP1L1, ST3GAL6, FGF14 and PTK2B. We genotyped 349 SNPs and obtained the lowest P-value for rs2715147 in PCLO at P = 6.8E-7. We imputed, filling in missing genotypes, after which rs2715147 and rs2715148 showed the lowest P-value at P = 1.2E-6. When we created a haplotype of these SNPs together with the non-synonymous coding SNP rs2522833, the P-value decreased to P = 9.9E-7 but was not genome wide significant. Although our study did not identify a more strongly associated variant, the results for PCLO suggest that the causal variant is in high LD with rs2715147, rs2715148 and rs2522833.

  6. A fine-mapping study of 7 top scoring genes from a GWAS for major depressive disorder.

    Science.gov (United States)

    Verbeek, Eva C; Bakker, Ingrid M C; Bevova, Marianna R; Bochdanovits, Zoltán; Rizzu, Patrizia; Sondervan, David; Willemsen, Gonneke; de Geus, Eco J; Smit, Johannes H; Penninx, Brenda W; Boomsma, Dorret I; Hoogendijk, Witte J G; Heutink, Peter

    2012-01-01

    Major depressive disorder (MDD) is a psychiatric disorder that is characterized--amongst others--by persistent depressed mood, loss of interest and pleasure and psychomotor retardation. Environmental circumstances have proven to influence the aetiology of the disease, but MDD also has an estimated 40% heritability, probably with a polygenic background. In 2009, a genome wide association study (GWAS) was performed on the Dutch GAIN-MDD cohort. A non-synonymous coding single nucleotide polymorphism (SNP) rs2522833 in the PCLO gene became only nominally significant after post-hoc analysis with an Australian cohort which used similar ascertainment. The absence of genome-wide significance may be caused by low SNP coverage of genes. To increase SNP coverage to 100% for common variants (m.a.f.>0.1, r(2)>0.8), we selected seven genes from the GAIN-MDD GWAS: PCLO, GZMK, ANPEP, AFAP1L1, ST3GAL6, FGF14 and PTK2B. We genotyped 349 SNPs and obtained the lowest P-value for rs2715147 in PCLO at P = 6.8E-7. We imputed, filling in missing genotypes, after which rs2715147 and rs2715148 showed the lowest P-value at P = 1.2E-6. When we created a haplotype of these SNPs together with the non-synonymous coding SNP rs2522833, the P-value decreased to P = 9.9E-7 but was not genome wide significant. Although our study did not identify a more strongly associated variant, the results for PCLO suggest that the causal variant is in high LD with rs2715147, rs2715148 and rs2522833.

  7. Assocplots: a Python package for static and interactive visualization of multiple-group GWAS results.

    Science.gov (United States)

    Khramtsova, Ekaterina A; Stranger, Barbara E

    2017-02-01

    Over the last decade, genome-wide association studies (GWAS) have generated vast amounts of analysis results, requiring development of novel tools for data visualization. Quantile–quantile (QQ) plots and Manhattan plots are classical tools which have been utilized to visually summarize GWAS results and identify genetic variants significantly associated with traits of interest. However, static visualizations are limiting in the information that can be shown. Here, we present Assocplots, a Python package for viewing and exploring GWAS results not only using classic static Manhattan and QQ plots, but also through a dynamic extension which allows to interactively visualize the relationships between GWAS results from multiple cohorts or studies. The Assocplots package is open source and distributed under the MIT license via GitHub (https://github.com/khramts/assocplots) along with examples, documentation and installation instructions. ekhramts@medicine.bsd.uchicago.edu or bstranger@medicine.bsd.uchicago.edu

  8. Analysis and visualization of Arabidopsis thaliana GWAS using web 2.0 technologies

    OpenAIRE

    Huang, Yu S.; Horton, Matthew; Vilhj?lmsson, Bjarni J.; Seren, ?mit; Meng, Dazhe; Meyer, Christopher; Ali Amer, Muhammad; Borevitz, Justin O.; Bergelson, Joy; Nordborg, Magnus

    2011-01-01

    With large-scale genomic data becoming the norm in biological studies, the storing, integrating, viewing and searching of such data have become a major challenge. In this article, we describe the development of an Arabidopsis thaliana database that hosts the geographic information and genetic polymorphism data for over 6000 accessions and genome-wide association study (GWAS) results for 107 phenotypes representing the largest collection of Arabidopsis polymorphism data and GWAS results to dat...

  9. Combustion Byproducts Recycling Consortium

    Energy Technology Data Exchange (ETDEWEB)

    Paul Ziemkiewicz; Tamara Vandivort; Debra Pflughoeft-Hassett; Y. Paul Chugh; James Hower

    2008-08-31

    The Combustion Byproducts Recycling Consortium (CBRC) program was developed as a focused program to remove and/or minimize the barriers for effective management of over 123 million tons of coal combustion byproducts (CCBs) annually generated in the USA. At the time of launching the CBRC in 1998, about 25% of CCBs were beneficially utilized while the remaining was disposed in on-site or off-site landfills. During the ten (10) year tenure of CBRC (1998-2008), after a critical review, 52 projects were funded nationwide. By region, the East, Midwest, and West had 21, 18, and 13 projects funded, respectively. Almost all projects were cooperative projects involving industry, government, and academia. The CBRC projects, to a large extent, successfully addressed the problems of large-scale utilization of CCBs. A few projects, such as the two Eastern Region projects that addressed the use of fly ash in foundry applications, might be thought of as a somewhat smaller application in comparison to construction and agricultural uses, but as a novel niche use, they set the stage to draw interest that fly ash substitution for Portland cement might not attract. With consideration of the large increase in flue gas desulfurization (FGD) gypsum in response to EPA regulations, agricultural uses of FGD gypsum hold promise for large-scale uses of a product currently directed to the (currently stagnant) home construction market. Outstanding achievements of the program are: (1) The CBRC successfully enhanced professional expertise in the area of CCBs throughout the nation. The enhanced capacity continues to provide technology and information transfer expertise to industry and regulatory agencies. (2) Several technologies were developed that can be used immediately. These include: (a) Use of CCBs for road base and sub-base applications; (b) full-depth, in situ stabilization of gravel roads or highway/pavement construction recycled materials; and (c) fired bricks containing up to 30%-40% F

  10. The ocean sampling day consortium

    DEFF Research Database (Denmark)

    Kopf, Anna; Bicak, Mesude; Kottmann, Renzo

    2015-01-01

    Ocean Sampling Day was initiated by the EU-funded Micro B3 (Marine Microbial Biodiversity, Bioinformatics, Biotechnology) project to obtain a snapshot of the marine microbial biodiversity and function of the world’s oceans. It is a simultaneous global mega-sequencing campaign aiming to generate...... the largest standardized microbial data set in a single day. This will be achievable only through the coordinated efforts of an Ocean Sampling Day Consortium, supportive partnerships and networks between sites. This commentary outlines the establishment, function and aims of the Consortium and describes our...... vision for a sustainable study of marine microbial communities and their embedded functional traits....

  11. GenToS: Use of Orthologous Gene Information to Prioritize Signals from Human GWAS.

    Directory of Open Access Journals (Sweden)

    Anselm S Hoppmann

    Full Text Available Genome-wide association studies (GWAS evaluate associations between genetic variants and a trait or disease of interest free of prior biological hypotheses. GWAS require stringent correction for multiple testing, with genome-wide significance typically defined as association p-value <5*10-8. This study presents a new tool that uses external information about genes to prioritize SNP associations (GenToS. For a given list of candidate genes, GenToS calculates an appropriate statistical significance threshold and then searches for trait-associated variants in summary statistics from human GWAS. It thereby allows for identifying trait-associated genetic variants that do not meet genome-wide significance. The program additionally tests for enrichment of significant candidate gene associations in the human GWAS data compared to the number expected by chance. As proof of principle, this report used external information from a comprehensive resource of genetically manipulated and systematically phenotyped mice. Based on selected murine phenotypes for which human GWAS data for corresponding traits were publicly available, several candidate gene input lists were derived. Using GenToS for the investigation of candidate genes underlying murine skeletal phenotypes in data from a large human discovery GWAS meta-analysis of bone mineral density resulted in the identification of significantly associated variants in 29 genes. Index variants in 28 of these loci were subsequently replicated in an independent GWAS replication step, highlighting that they are true positive associations. One signal, COL11A1, has not been discovered through GWAS so far and represents a novel human candidate gene for altered bone mineral density. The number of observed genes that contained significant SNP associations in human GWAS based on murine candidate gene input lists was much greater than the number expected by chance across several complex human traits (enrichment p-value as

  12. Massachusetts Institute of Technology Consortium Agreement

    National Research Council Canada - National Science Library

    Asada, Haruhiko

    1999-01-01

    ... of Phase 2 of the Home Automation and Healthcare Consortium. This report describes all major research accomplishments within the last six months since we launched the second phase of the consortium...

  13. Brain Tumor Epidemiology Consortium (BTEC)

    Science.gov (United States)

    The Brain Tumor Epidemiology Consortium is an open scientific forum organized to foster the development of multi-center, international and inter-disciplinary collaborations that will lead to a better understanding of the etiology, outcomes, and prevention of brain tumors.

  14. In-silico analysis of inflammatory bowel disease (IBD GWAS loci to novel connections.

    Directory of Open Access Journals (Sweden)

    Md Mesbah-Uddin

    Full Text Available Genome-wide association studies (GWASs for many complex diseases, including inflammatory bowel disease (IBD, produced hundreds of disease-associated loci-the majority of which are noncoding. The number of GWAS loci is increasing very rapidly, but the process of translating single nucleotide polymorphisms (SNPs from these loci to genomic medicine is lagging. In this study, we investigated 4,734 variants from 152 IBD associated GWAS loci (IBD associated 152 lead noncoding SNPs identified from pooled GWAS results + 4,582 variants in strong linkage-disequilibrium (LD (r2 ≥0.8 for EUR population of 1K Genomes Project using four publicly available bioinformatics tools, e.g. dbPSHP, CADD, GWAVA, and RegulomeDB, to annotate and prioritize putative regulatory variants. Of the 152 lead noncoding SNPs, around 11% are under strong negative selection (GERP++ RS ≥2; and ~30% are under balancing selection (Tajima's D score >2 in CEU population (1K Genomes Project--though these regions are positively selected (GERP++ RS <0 in mammalian evolution. The analysis of 4,734 variants using three integrative annotation tools produced 929 putative functional SNPs, of which 18 SNPs (from 15 GWAS loci are in concordance with all three classifiers. These prioritized noncoding SNPs may contribute to IBD pathogenesis by dysregulating the expression of nearby genes. This study showed the usefulness of integrative annotation for prioritizing fewer functional variants from a large number of GWAS markers.

  15. Novel linkage disequilibrium clustering algorithm identifies new lupus genes on meta-analysis of GWAS datasets.

    Science.gov (United States)

    Saeed, Mohammad

    2017-05-01

    Systemic lupus erythematosus (SLE) is a complex disorder. Genetic association studies of complex disorders suffer from the following three major issues: phenotypic heterogeneity, false positive (type I error), and false negative (type II error) results. Hence, genes with low to moderate effects are missed in standard analyses, especially after statistical corrections. OASIS is a novel linkage disequilibrium clustering algorithm that can potentially address false positives and negatives in genome-wide association studies (GWAS) of complex disorders such as SLE. OASIS was applied to two SLE dbGAP GWAS datasets (6077 subjects; ∼0.75 million single-nucleotide polymorphisms). OASIS identified three known SLE genes viz. IFIH1, TNIP1, and CD44, not previously reported using these GWAS datasets. In addition, 22 novel loci for SLE were identified and the 5 SLE genes previously reported using these datasets were verified. OASIS methodology was validated using single-variant replication and gene-based analysis with GATES. This led to the verification of 60% of OASIS loci. New SLE genes that OASIS identified and were further verified include TNFAIP6, DNAJB3, TTF1, GRIN2B, MON2, LATS2, SNX6, RBFOX1, NCOA3, and CHAF1B. This study presents the OASIS algorithm, software, and the meta-analyses of two publicly available SLE GWAS datasets along with the novel SLE genes. Hence, OASIS is a novel linkage disequilibrium clustering method that can be universally applied to existing GWAS datasets for the identification of new genes.

  16. Corn in consortium with forages

    Directory of Open Access Journals (Sweden)

    Cássia Maria de Paula Garcia

    2013-12-01

    Full Text Available The basic premises for sustainable agricultural development with focus on rural producers are reducing the costs of production and aggregation of values through the use crop-livestock system (CLS throughout the year. The CLS is based on the consortium of grain crops, especially corn with tropical forages, mainly of the genus Panicum and Urochloa. The study aimed to evaluate the grain yield of irrigated corn crop intercropped with forage of the genus Panicum and Urochloa. The experiment was conducted at the Fazenda de Ensino, Pesquisa e Extensão – FEPE  of the Faculdade de Engenharia - UNESP, Ilha Solteira in an Oxisol in savannah conditions and in the autumn winter of 2009. The experimental area was irrigated by a center pivot and had a history of no-tillage system for 8 years. The corn hybrid used was simple DKB 390 YG at distances of 0.90 m. The seeds of grasses were sown in 0.34 m spacing in the amount of 5 kg ha-1, they were mixed with fertilizer minutes before sowing  and placed in a compartment fertilizer seeder and fertilizers were mechanically deposited in the soil at a depth of 0.03 m. The experimental design used was a randomized block with four replications and five treatments: Panicum maximum cv. Tanzania sown during the nitrogen fertilization (CTD of the corn; Panicum maximum cv. Mombaça sown during the nitrogen fertilization (CMD of the corn; Urochloa brizantha cv. Xaraés sown during the occasion of nitrogen fertilization (CBD of the corn; Urochloa ruziziensis cv. Comumsown during the nitrogen fertilization (CRD of the corn and single corn (control. The production components of corn: plant population per hectare (PlPo, number of ears per hectare (NE ha-1, number of rows per ear (NRE, number of kernels per row on the cob (NKR, number of grain in the ear (NGE and mass of 100 grains (M100G were not influenced by consortium with forage. Comparing grain yield (GY single corn and maize intercropped with forage of the genus Panicum

  17. Novel loci associated with usual sleep duration: the CHARGE Consortium Genome-Wide Association Study.

    Science.gov (United States)

    Gottlieb, D J; Hek, K; Chen, T-H; Watson, N F; Eiriksdottir, G; Byrne, E M; Cornelis, M; Warby, S C; Bandinelli, S; Cherkas, L; Evans, D S; Grabe, H J; Lahti, J; Li, M; Lehtimäki, T; Lumley, T; Marciante, K D; Pérusse, L; Psaty, B M; Robbins, J; Tranah, G J; Vink, J M; Wilk, J B; Stafford, J M; Bellis, C; Biffar, R; Bouchard, C; Cade, B; Curhan, G C; Eriksson, J G; Ewert, R; Ferrucci, L; Fülöp, T; Gehrman, P R; Goodloe, R; Harris, T B; Heath, A C; Hernandez, D; Hofman, A; Hottenga, J-J; Hunter, D J; Jensen, M K; Johnson, A D; Kähönen, M; Kao, L; Kraft, P; Larkin, E K; Lauderdale, D S; Luik, A I; Medici, M; Montgomery, G W; Palotie, A; Patel, S R; Pistis, G; Porcu, E; Quaye, L; Raitakari, O; Redline, S; Rimm, E B; Rotter, J I; Smith, A V; Spector, T D; Teumer, A; Uitterlinden, A G; Vohl, M-C; Widen, E; Willemsen, G; Young, T; Zhang, X; Liu, Y; Blangero, J; Boomsma, D I; Gudnason, V; Hu, F; Mangino, M; Martin, N G; O'Connor, G T; Stone, K L; Tanaka, T; Viikari, J; Gharib, S A; Punjabi, N M; Räikkönen, K; Völzke, H; Mignot, E; Tiemeier, H

    2015-10-01

    Usual sleep duration is a heritable trait correlated with psychiatric morbidity, cardiometabolic disease and mortality, although little is known about the genetic variants influencing this trait. A genome-wide association study (GWAS) of usual sleep duration was conducted using 18 population-based cohorts totaling 47 180 individuals of European ancestry. Genome-wide significant association was identified at two loci. The strongest is located on chromosome 2, in an intergenic region 35- to 80-kb upstream from the thyroid-specific transcription factor PAX8 (lowest P=1.1 × 10(-9)). This finding was replicated in an African-American sample of 4771 individuals (lowest P=9.3 × 10(-4)). The strongest combined association was at rs1823125 (P=1.5 × 10(-10), minor allele frequency 0.26 in the discovery sample, 0.12 in the replication sample), with each copy of the minor allele associated with a sleep duration 3.1 min longer per night. The alleles associated with longer sleep duration were associated in previous GWAS with a more favorable metabolic profile and a lower risk of attention deficit hyperactivity disorder. Understanding the mechanisms underlying these associations may help elucidate biological mechanisms influencing sleep duration and its association with psychiatric, metabolic and cardiovascular disease.

  18. The AGTSR consortium: An update

    Energy Technology Data Exchange (ETDEWEB)

    Fant, D.B.; Golan, L.P. [Clemson Univ., SC (United States)

    1995-10-01

    The Advanced Gas Turbine Systems Research (AGTSR) program is a collaborative University-Industry R&D Consortium that is managed and administered by the South Carolina Energy R&D Center. AGTSR is a nationwide consortium dedicated to advancing land-based gas turbine systems for improving future power generation capability. It directly supports the technology-research arm of the ATS program and targets industry-defined research needs in the areas of combustion, heat transfer, materials, aerodynamics, controls, alternative fuels, and advanced cycles. The consortium is organized to enhance U.S. competitiveness through close collaboration with universities, government, and industry at the R&D level. AGTSR is just finishing its third year of operation and is sponsored by the U.S. DOE - Morgantown Energy Technology Center. The program is scheduled to continue past the year 2000. At present, there are 78 performing member universities representing 36 states, and six cost-sharing U.S. gas turbine corporations. Three RFP`s have been announced and the fourth RFP is expected to be released in December, 1995. There are 31 research subcontracts underway at performing member universities. AGTSR has also organized three workshops, two in combustion and one in heat transfer. A materials workshop is in planning and is scheduled for February, 1996. An industrial internship program was initiated this past summer, with one intern positioned at each of the sponsoring companies. The AGTSR consortium nurtures close industry-university-government collaboration to enhance synergism and the transition of research results, accelerate and promote evolutionary-revolutionary R&D, and strives to keep a prominent U.S. industry strong and on top well into the 21st century. This paper will present the objectives and benefits of the AGTSR program, progress achieved to date, and future planned activity in fiscal year 1996.

  19. Appalachian clean coal technology consortium

    Energy Technology Data Exchange (ETDEWEB)

    Kutz, K.; Yoon, Roe-Hoan [Virginia Polytechnic Institute and State Univ., Blacksburg, VA (United States)

    1995-11-01

    The Appalachian Clean Coal Technology Consortium (ACCTC) has been established to help U.S. coal producers, particularly those in the Appalachian region, increase the production of lower-sulfur coal. The cooperative research conducted as part of the consortium activities will help utilities meet the emissions standards established by the 1990 Clean Air Act Amendments, enhance the competitiveness of U.S. coals in the world market, create jobs in economically-depressed coal producing regions, and reduce U.S. dependence on foreign energy supplies. The research activities will be conducted in cooperation with coal companies, equipment manufacturers, and A&E firms working in the Appalachian coal fields. This approach is consistent with President Clinton`s initiative in establishing Regional Technology Alliances to meet regional needs through technology development in cooperation with industry. The consortium activities are complementary to the High-Efficiency Preparation program of the Pittsburgh Energy Technology Center, but are broader in scope as they are inclusive of technology developments for both near-term and long-term applications, technology transfer, and training a highly-skilled work force.

  20. PSYCHIATRIC DISORDERS AND SLEEP

    Science.gov (United States)

    Krystal, Andrew D.

    2012-01-01

    SYNOPSIS Psychiatric disorders and sleep are related in important ways. In contrast to the longstanding view of this relationship which viewed sleep problems as symptoms of psychiatric disorders, there is growing experimental evidence that the relationship between psychiatric disorders and sleep is complex and includes bi-directional causation. In this article we provide the evidence that supports this point of view, reviewing the data on the sleep disturbances seen in patients with psychiatric disorders but also reviewing the data on the impact of sleep disturbances on psychiatric conditions. Although much has been learned about the psychiatric disorders-sleep relationship, additional research is needed to better understand these relationships. This work promises to improve our ability to understand both of these phenomena and to allow us to better treat the many patients with sleep disorders and with psychiatric disorders. PMID:23099143

  1. Investigating the genetic relationship between Alzheimer’s disease and cancer using GWAS summary statistics

    NARCIS (Netherlands)

    Feng, Yen Chen Anne; Cho, Kelly; Lindstrom, Sara; Kraft, Peter; Cormack, Jean; Blalock, Kendra; Campbell, Peter T.; Casey, Graham; Conti, David V.; Edlund, Christopher K.; Figueiredo, Jane; James Gauderman, W.; Gong, Jian; Green, Roger C.; Gruber, Stephen B.; Harju, John F.; Harrison, Tabitha A.; Jacobs, Eric J; Jenkins, Mark A.; Jiao, Shuo; Li, Li; Lin, Yi; Manion, Frank J.; Moreno, Victor; Mukherjee, Bhramar; Peters, Ulrike; Raskin, Leon; Schumacher, Fredrick R.; Seminara, Daniela; Severi, Gianluca; Stenzel, Stephanie L.; Thomas, Duncan C.; Hopper, John L.; Southey, Melissa C.; Makalic, Enes; Schmidt, Daniel F.; Fletcher, Olivia; Peto, Julian; Gibson, Lorna; Dos-Santos-Silva, Isabel; Hunter, David J.; Lindström, Sara; Kraft, Peter; Ahsan, Habib; Whittemore, Alice S.; Waisfisz, Quinten; Meijers-Heijboer, Hanne; Adank, Muriel A.; van der Luijt, Rob B.|info:eu-repo/dai/nl/153170824; Uitterlinden, Andre G; Hofman, Albert; Meindl, Alfons; Schmutzler, Rita K.; Müller-Myhsok, Bertram; Lichtner, Peter; Nevanlinna, Heli; Muranen, Taru A.; Aittomäki, Kristiina; Blomqvist, Carl; Chang-Claude, Jenny; Hein, Rebecca; Dahmen, Norbert; Beckman, Lars; Crisponi, Laura; Hall, Per; Czene, Kamila; Irwanto, Astrid; Liu, Jianjun; Easton, Douglas F.; Turnbull, Clare A.; Rahman, Nazneen; Kote-Jarai, Zsofia; Muir, Kenneth; Giles, Graham G.; Severi, Gianluca; Neal, David E.; Donovan, Jenny L.; Hamdy, Freddie C.; Wiklund, Fredrik; Gronberg, Henrik; Haiman, Christopher; Schumacher, Fred; Travis, Ruth C.; Riboli, Elio; Kraft, Peter; Hunter, David J.; Gapstur, Susan M.; Berndt, Sonja I.; Chanock, Stephen J.; Han, Younghun; Su, Li; Wei, Yongyue; Hung, Rayjean J.; Brhane, Yonathan; McLaughlin, John; Brennan, Paul; McKay, James D.; Bickeböller, Heike; Rosenberger, Albert; Houlston, Richard S.; Caporaso, Neil E; Landi, Maria Teresa; Heinrich, Joachim; Risch, Angela; Wu, Xifeng; Ye, Yuanqing; Christiani, David C.; Amos, Christopher I; Liang, Liming; Driver, Jane A.; IGAP Consortium, Colorectal Transdisciplinary Study (CORECT); Discovery, Biology, and Risk of Inherited Variants in Breast Cancer (DRIVE)

    2017-01-01

    Growing evidence from both epidemiology and basic science suggest an inverse association between Alzheimer’s disease (AD) and cancer. We examined the genetic relationship between AD and various cancer types using GWAS summary statistics from the IGAP and GAME-ON consortia. Sample size ranged from

  2. GWAS of 126,559 individuals identifies genetic variants associated with educational attainment

    NARCIS (Netherlands)

    Rietveld, Cornelius A; Medland, Sarah E; Derringer, Jaime; Yang, Jian; Esko, Tõnu; Martin, Nicolas W; Westra, Harm-Jan; Shakhbazov, Konstantin; Abdellaoui, Abdel; Agrawal, Arpana; Albrecht, Eva; Alizadeh, Behrooz Z; Amin, Najaf; Barnard, John; Baumeister, Sebastian E; Benke, Kelly S; Bielak, Lawrence F; Boatman, Jeffrey A; Boyle, Patricia A; Davies, Gail; de Leeuw, Christiaan; Eklund, Niina; Evans, Daniel S; Fehrmann, Rudolf; Fischer, Krista; Gieger, Christian; Gjessing, Håkon K; Hägg, Sara; Harris, Jennifer R; Hayward, Caroline; Holzapfel, Christina; Ibrahim-Verbaas, Carla A; Ingelsson, Erik; Jacobsson, Bo; Joshi, Peter K; Jugessur, Astanand; Kaakinen, Marika; Kanoni, Stavroula; Karjalainen, Juha; Kolcic, Ivana; Kristiansson, Kati; Kutalik, Zoltán; Lahti, Jari; Lee, Sang H; Lin, Peng; Lind, Penelope A; Liu, Yongmei; Lohman, Kurt; Loitfelder, Marisa; McMahon, George; Vidal, Pedro Marques; Meirelles, Osorio; Milani, Lili; Myhre, Ronny; Nuotio, Marja-Liisa; Oldmeadow, Christopher J; Petrovic, Katja E; Peyrot, Wouter J; Polasek, Ozren; Quaye, Lydia; Reinmaa, Eva; Rice, John P; Rizzi, Thais S; Schmidt, Helena; Schmidt, Reinhold; Smith, Albert V.; Smith, Jennifer A; Tanaka, Toshiko; Terracciano, Antonio; van der Loos, Matthijs J H M; Vitart, Veronique; Völzke, Henry; Wellmann, Jürgen; Yu, Lei; Zhao, Wei; Allik, Jüri; Attia, John R; Bandinelli, Stefania; Bastardot, François; Beauchamp, Jonathan; Bennett, David A; Berger, Klaus; Bierut, Laura J; Boomsma, Dorret I; Bültmann, Ute; Campbell, Harry; Chabris, Christopher F; Cherkas, Lynn; Chung, Mina K; Cucca, Francesco; de Andrade, Mariza; De Jager, Philip L; De Neve, Jan-Emmanuel; Deary, Ian J; Dedoussis, George V; Deloukas, Panos; Dimitriou, Maria; Eiríksdóttir, Guðny; Elderson, Martin F; Eriksson, Johan G; Evans, David M; Faul, Jessica D; Ferrucci, Luigi; Garcia, Melissa E; Grönberg, Henrik; Guðnason, Vilmundur; Hall, Per; Harris, Juliette M; Harris, Tamara B; Hastie, Nicholas D; Heath, Andrew C; Hernandez, Dena G; Hoffmann, Wolfgang; Hofman, Adriaan; Holle, Rolf; Holliday, Elizabeth G; Hottenga, Jouke-Jan; Iacono, William G; Illig, Thomas; Järvelin, Marjo-Riitta; Kähönen, Mika; Kaprio, Jaakko; Kirkpatrick, Robert M; Kowgier, Matthew; Latvala, Antti; Launer, Lenore J; Lawlor, Debbie A; Lehtimäki, Terho; Li, Jingmei; Lichtenstein, Paul; Lichtner, Peter; Liewald, David C; Madden, Pamela A; Magnusson, Patrik K E; Mäkinen, Tomi E; Masala, Marco; McGue, Matt; Metspalu, Andres; Mielck, Andreas; Miller, Michael B; Montgomery, Grant W; Mukherjee, Sutapa; Nyholt, Dale R; Oostra, Ben A; Palmer, Lyle J; Palotie, Aarno; Penninx, Brenda W J H; Perola, Markus; Peyser, Patricia A; Preisig, Martin; Räikkönen, Katri; Raitakari, Olli T; Realo, Anu; Ring, Susan M; Ripatti, Samuli; Rivadeneira, Fernando; Rudan, Igor; Rustichini, Aldo; Salomaa, Veikko; Sarin, Antti-Pekka; Schlessinger, David; Scott, Rodney J; Snieder, Harold; St Pourcain, Beate; Starr, John M; Sul, Jae Hoon; Surakka, Ida; Svento, Rauli; Teumer, Alexander; Tiemeier, Henning; van Rooij, Frank J A; Van Wagoner, David R; Vartiainen, Erkki; Viikari, Jorma; Vollenweider, Peter; Vonk, Judith M; Waeber, Gérard; Weir, David R; Wichmann, H-Erich; Widen, Elisabeth; Willemsen, Gonneke; Wilson, James F; Wright, Alan F; Conley, Dalton; Davey-Smith, George; Franke, Lude; Groenen, Patrick J F; Hofman, Albert; Johannesson, Magnus; Kardia, Sharon L R; Krueger, Robert F; Laibson, David; Martin, Nicholas G; Meyer, Michelle N; Posthuma, Danielle; Thurik, A Roy; Timpson, Nicholas J; Uitterlinden, André G; van Duijn, Cornelia M; Visscher, Peter M; Benjamin, Daniel J; Cesarini, David; Koellinger, Philipp D; Fehrmann, Rudolf

    2013-01-01

    A genome-wide association study (GWAS) of educational attainment was conducted in a discovery sample of 101,069 individuals and a replication sample of 25,490. Three independent single-nucleotide polymorphisms (SNPs) are genome-wide significant (rs9320913, rs11584700, rs4851266), and all three

  3. GWAS for executive function and processing speed suggests involvement of the CADM2 gene

    NARCIS (Netherlands)

    C.A. Ibrahim-Verbaas (Carla); J. Bressler; S. Debette (Stéphanie); M. Schuur (Maaike); A.V. Smith; J.C. Bis (Joshua); G. Davies (Gail); S. Trompet (Stella); J.A. Smith; A. Björnsson (Asgeir); L.B. Chibnik (Lori); Y. Liu; V. Vitart (Veronique); M. Kirin (Mirna); K. Petrovic (Katja); O. Polasek (Ozren); L. Zgaga (Lina); C. Fawns-Ritchie; P. Hoffmann (Per); J. Karjalainen (Juha); J. Lahti; D.J. Llewellyn; C.O. Schmidt (Carsten O.); R. Mather; V. Chouraki (Vincent); Q. Sun; S. Resnick (Susan); L.M. Rose (Lynda M.); C. Oldmeadow (Christopher); M. Stewart; B.H. Smith; V. Gudnason (Vilmundur); Q. Yang (Qiong); S.S. Mirza (Saira); J.W. Jukema; P.L. DeJager (Philip L.); T.B. Harris (Tamara); D.C. Liewald (David C.); N. Amin (Najaf); L.H. Coker (Laura); O. Stegle (Oliver); O.L. Lopez; R. Schmidt; A. Teumer (Alexander); I. Ford; N. Karbalai (Nazanin); J.T. Becker (James); M.K. Jonsdottir (Maria K.); R. Au; R.S.N. Fehrmann (Rudolf); S. Herms (Stefan); M.A. Nalls (Michael); W. Zhao; S.T. Turner; K. Yaffe; K. Lohman (Kurt); J.C. van Swieten (John); S.L.R. Kardia; D.S. Knopman (David); W.M. Meeks (William); G. Heiss (Gerardo); E.G. Holliday (Elizabeth); P.W. Schofield; T. Tanaka (Toshiko); D.J. Stott (David J.); J. Wang (Jing); P.M. Ridker (Paul); A.J. Gow; A. Pattie (Alison); J.M. Starr (John); L.J. Hocking; N.J. Armstrong (Nicola J.); S. McLachlan (Stela); L. Shulman (Lee); L.C. Pilling (Luke); G. Eiriksdottir (Gudny); R.J. Scott; N.A. Kochan (Nicole A.); A. Palotie; Y.-C. Hsieh; J.G. Eriksson (Johan G.); A.D. Penman (Alan); R.F. Gottesman (Rebecca); B.A. Oostra (Ben); L. Yu; A.L. DeStefano (Anita L.); A. Beiser; M. Garcia; J.I. Rotter; M.M. Nöthen; A. Hofman (Albert); P.E. Slagboom (Eline); R.G.J. Westendorp; B.M. Buckley (Brendan M.); P.A. Wolf; A.G. Uitterlinden (André); B.M. Psaty (Bruce); H.J. Grabe (Hans Jörgen); S. Bandinelli (Stefania); D.I. Chasman (Daniel); F. Grodstein (Francine); K. Räikkönen (Katri); J.-C. Lambert; D.J. Porteous (David J.); J.F. Price (Jackie F.); P.S. Sachdev (Perminder); L. Ferrucci (Luigi); J. Attia (John); I. Rudan (Igor); C. Hayward; A.F. Wright; J.F. Wilson (James F); S. Cichon (Sven); L. Franke (Lude); H. Schmidt; J. Ding; A.J. de Craen (Anton); M. Fornage (Myriam); D.A. Bennett (David); I.J. Deary (Ian); M.A. Ikram (Arfan); L.J. Launer (Lenore); A.L. Fitzpatrick; S. Seshadri (Sudha); C.M. van Duijn (Cornelia); T.H. Mosley (Thomas H.)

    2016-01-01

    textabstractTo identify common variants contributing to normal variation in two specific domains of cognitive functioning, we conducted a genome-wide association study (GWAS) of executive functioning and information processing speed in non-demented older adults from the CHARGE (Cohorts for Heart and

  4. Analysis and visualization of Arabidopsis thaliana GWAS using web 2.0 technologies.

    Science.gov (United States)

    Huang, Yu S; Horton, Matthew; Vilhjálmsson, Bjarni J; Seren, Umit; Meng, Dazhe; Meyer, Christopher; Ali Amer, Muhammad; Borevitz, Justin O; Bergelson, Joy; Nordborg, Magnus

    2011-01-01

    With large-scale genomic data becoming the norm in biological studies, the storing, integrating, viewing and searching of such data have become a major challenge. In this article, we describe the development of an Arabidopsis thaliana database that hosts the geographic information and genetic polymorphism data for over 6000 accessions and genome-wide association study (GWAS) results for 107 phenotypes representing the largest collection of Arabidopsis polymorphism data and GWAS results to date. Taking advantage of a series of the latest web 2.0 technologies, such as Ajax (Asynchronous JavaScript and XML), GWT (Google-Web-Toolkit), MVC (Model-View-Controller) web framework and Object Relationship Mapper, we have created a web-based application (web app) for the database, that offers an integrated and dynamic view of geographic information, genetic polymorphism and GWAS results. Essential search functionalities are incorporated into the web app to aid reverse genetics research. The database and its web app have proven to be a valuable resource to the Arabidopsis community. The whole framework serves as an example of how biological data, especially GWAS, can be presented and accessed through the web. In the end, we illustrate the potential to gain new insights through the web app by two examples, showcasing how it can be used to facilitate forward and reverse genetics research. Database URL: http://arabidopsis.usc.edu/

  5. GWAS for executive function and processing speed suggests involvement of the CADM2 gene

    NARCIS (Netherlands)

    Ibrahim-Verbaas, C. A.; Bressler, J.; Debette, S.; Schuur, M.; Smith, A. V.; Bis, J. C.; Davies, G.; Trompet, S.; Smith, J. A.; Wolf, C.; Chibnik, L. B.; Liu, Y.; Vitart, V.; Kirin, M.; Petrovic, K.; Polasek, O.; Zgaga, L.; Fawns-Ritchie, C.; Hoffmann, P.; Karjalainen, J.; Lahti, J.; Llewellyn, D. J.; Schmidt, C.O.; Mather, K. A.; Chouraki, V.; Sun, Q.; Resnick, S. M.; Rose, L. M.; Oldmeadow, C.; Stewart, M.; Smith, B.H.; Gudnason, V.; Yang, Q.; Mirza, S. S.; Jukema, J. W.; Dejager, P. L.; Harris, T. B.; Liewald, D. C.; Amin, N.; Coker, L. H.; Stegle, O.; Lopez, O. L.; Schmidt, R.; Teumer, A.; Ford, I.; Karbalai, N.; Becker, J. T.; Jonsdottir, M. K.; Au, R.; Fehrmann, R. S. N.; Herms, S.; Nalls, M.; Zhao, Wei; Turner, S. T.; Yaffe, K.; Lohman, K.; van Swieten, J. C.; Kardia, S. L. R.; Knopman, D. S.; Meeks, W. M.; Heiss, G.; Holliday, E. G.; Schofield, P. W.; Tanaka, T.; Stott, D. J.; Wang, J.; Ridker, P.; Gow, A. J.; Pattie, A.; Starr, J. M.; Hocking, L. J.; Armstrong, N. J.; McLachlan, S.; Shulman, J. M.; Pilling, L. C.; Eiriksdottir, G.; Scott, R. J.; Kochan, N. A.; Palotie, A.; Hsieh, Y-C; Eriksson, J. G.; Penman, A.; Gottesman, R. F.; Oostra, B. A.; Yu, L.; DeStefano, A. L.; Beiser, A.; Garcia, M.; Rotter, J. i; Noethen, M. M.; Hofman, A.; Slagboom, P. E.; Westendorp, R. G. J.; Buckley, B. M.; Wolf, P. A.; Uitterlinden, A. G.; Psaty, B. M.; Grabe, H. J.; Bandinelli, S.; Chasman, D. I.; Grodstein, F.; Roikkonen, K.; Lambert, J-C; Porteous, D. J.; Price, J. F.; Sachdev, P. S.; Ferrucci, L.; Attia, J. R.; Rudan, I.; Hayward, C.; Wright, A. F.; Wilson, James F.; Cichon, S.; Franke, L.; Schmidt, H.; Ding, J.; de Craen, A. J. M.; Fornage, M.; Bennett, D. A.; Deary, I. J.; Ikram, M. A.; Launer, L. J.; Fitzpatrick, A. L.; Seshadri, S.; van Duijn, C. M.; Mosley, T. H.

    To identify common variants contributing to normal variation in two specific domains of cognitive functioning, we conducted a genome-wide association study (GWAS) of executive functioning and information processing speed in non-demented older adults from the CHARGE (Cohorts for Heart and Aging

  6. A genome-wide association scan (GWAS) for mean telomere length within the COGS project

    DEFF Research Database (Denmark)

    Pooley, Karen A; Bojesen, Stig E; Weischer, Maren

    2013-01-01

    Mean telomere length (TL) in blood cells is heritable and has been reported to be associated with risks of several diseases, including cancer. We conducted a meta-analysis of three GWAS for TL (total n=2240) and selected 1629 variants for replication via the "iCOGS" custom genotyping array. All ∼...

  7. Methods to improve genomic prediction and GWAS using combined Holstein populations

    DEFF Research Database (Denmark)

    Li, Xiujin

    The thesis focuses on methods to improve GWAS and genomic prediction using combined Holstein populations and investigations G by E interaction. The conclusions are: 1) Prediction reliabilities for Brazilian Holsteins can be increased by adding Nordic and Frensh genotyped bulls and a large G by E ...

  8. Consortium for Health and Military Performance (CHAMP)

    Data.gov (United States)

    Federal Laboratory Consortium — The Center's work addresses a wide scope of trauma exposure from the consequences of combat, operations other than war, terrorism, natural and humanmade disasters,...

  9. The 19q12 bladder cancer GWAS signal: association with cyclin E function and aggressive disease

    Science.gov (United States)

    Fu, Yi-Ping; Kohaar, Indu; Moore, Lee E.; Lenz, Petra; Figueroa, Jonine D.; Tang, Wei; Porter-Gill, Patricia; Chatterjee, Nilanjan; Scott-Johnson, Alexandra; Garcia-Closas, Montserrat; Muchmore, Brian; Baris, Dalsu; Paquin, Ashley; Ylaya, Kris; Schwenn, Molly; Apolo, Andrea B.; Karagas, Margaret R.; Tarway, McAnthony; Johnson, Alison; Mumy, Adam; Schned, Alan; Guedez, Liliana; Jones, Michael A.; Kida, Masatoshi; Monawar Hosain, GM; Malats, Nuria; Kogevinas, Manolis; Tardon, Adonina; Serra, Consol; Carrato, Alfredo; Garcia-Closas, Reina; Lloreta, Josep; Wu, Xifeng; Purdue, Mark; Andriole, Gerald L.; Grubb, Robert L.; Black, Amanda; Landi, Maria T.; Caporaso, Neil E.; Vineis, Paolo; Siddiq, Afshan; Bueno-de-Mesquita, H. Bas; Trichopoulos, Dimitrios; Ljungberg, Börje; Severi, Gianluca; Weiderpass, Elisabete; Krogh, Vittorio; Dorronsoro, Miren; Travis, Ruth C.; Tjønneland, Anne; Brennan, Paul; Chang-Claude, Jenny; Riboli, Elio; Prescott, Jennifer; Chen, Constance; De Vivo, Immaculata; Govannucci, Edward; Hunter, David; Kraft, Peter; Lindstrom, Sara; Gapstur, Susan M.; Jacobs, Eric J.; Diver, W. Ryan; Albanes, Demetrius; Weinstein, Stephanie J.; Virtamo, Jarmo; Kooperberg, Charles; Hohensee, Chancellor; Rodabough, Rebecca J.; Cortessis, Victoria K.; Conti, David V.; Gago-Dominguez, Manuela; Stern, Mariana C.; Pike, Malcolm C.; Van Den Berg, David; Yuan, Jian-Min; Haiman, Christopher A.; Cussenot, Olivier; Cancel-Tassin, Geraldine; Roupret, Morgan; Comperat, Eva; Porru, Stefano; Carta, Angela; Pavanello, Sofia; Arici, Cecilia; Mastrangelo, Giuseppe; Grossman, H. Barton; Wang, Zhaoming; Deng, Xiang; Chung, Charles C.; Hutchinson, Amy; Burdette, Laurie; Wheeler, William; Fraumeni, Joseph; Chanock, Stephen J.; Hewitt, Stephen M.; Silverman, Debra T.; Rothman, Nathaniel; Prokunina-Olsson, Ludmila

    2014-01-01

    A genome-wide association study (GWAS) of bladder cancer identified a genetic marker rs8102137 within the 19q12 region as a novel susceptibility variant. This marker is located upstream of the CCNE1 gene, which encodes cyclin E, a cell cycle protein. We performed genetic fine mapping analysis of the CCNE1 region using data from two bladder cancer GWAS (5,942 cases and 10,857 controls). We found that the original GWAS marker rs8102137 represents a group of 47 linked SNPs (with r2≥0.7) associated with increased bladder cancer risk. From this group we selected a functional promoter variant rs7257330, which showed strong allele-specific binding of nuclear proteins in several cell lines. In both GWAS, rs7257330 was associated only with aggressive bladder cancer, with a combined per-allele odds ratio (OR) =1.18 (95%CI=1.09-1.27, p=4.67×10−5 vs. OR =1.01 (95%CI=0.93-1.10, p=0.79) for non-aggressive disease, with p=0.0015 for case-only analysis. Cyclin E protein expression analyzed in 265 bladder tumors was increased in aggressive tumors (p=0.013) and, independently, with each rs7257330-A risk allele (ptrend=0.024). Over-expression of recombinant cyclin E in cell lines caused significant acceleration of cell cycle. In conclusion, we defined the 19q12 signal as the first GWAS signal specific for aggressive bladder cancer. Molecular mechanisms of this genetic association may be related to cyclin E over-expression and alteration of cell cycle in carriers of CCNE1 risk variants. In combination with established bladder cancer risk factors and other somatic and germline genetic markers, the CCNE1 variants could be useful for inclusion into bladder cancer risk prediction models. PMID:25320178

  10. Pathways of distinction analysis: a new technique for multi-SNP analysis of GWAS data.

    Directory of Open Access Journals (Sweden)

    Rosemary Braun

    2011-06-01

    Full Text Available Genome-wide association studies (GWAS have become increasingly common due to advances in technology and have permitted the identification of differences in single nucleotide polymorphism (SNP alleles that are associated with diseases. However, while typical GWAS analysis techniques treat markers individually, complex diseases (cancers, diabetes, and Alzheimers, amongst others are unlikely to have a single causative gene. Thus, there is a pressing need for multi-SNP analysis methods that can reveal system-level differences in cases and controls. Here, we present a novel multi-SNP GWAS analysis method called Pathways of Distinction Analysis (PoDA. The method uses GWAS data and known pathway-gene and gene-SNP associations to identify pathways that permit, ideally, the distinction of cases from controls. The technique is based upon the hypothesis that, if a pathway is related to disease risk, cases will appear more similar to other cases than to controls (or vice versa for the SNPs associated with that pathway. By systematically applying the method to all pathways of potential interest, we can identify those for which the hypothesis holds true, i.e., pathways containing SNPs for which the samples exhibit greater within-class similarity than across classes. Importantly, PoDA improves on existing single-SNP and SNP-set enrichment analyses, in that it does not require the SNPs in a pathway to exhibit independent main effects. This permits PoDA to reveal pathways in which epistatic interactions drive risk. In this paper, we detail the PoDA method and apply it to two GWAS: one of breast cancer and the other of liver cancer. The results obtained strongly suggest that there exist pathway-wide genomic differences that contribute to disease susceptibility. PoDA thus provides an analytical tool that is complementary to existing techniques and has the power to enrich our understanding of disease genomics at the systems-level.

  11. Protein interaction networks reveal novel autism risk genes within GWAS statistical noise.

    Directory of Open Access Journals (Sweden)

    Catarina Correia

    Full Text Available Genome-wide association studies (GWAS for Autism Spectrum Disorder (ASD thus far met limited success in the identification of common risk variants, consistent with the notion that variants with small individual effects cannot be detected individually in single SNP analysis. To further capture disease risk gene information from ASD association studies, we applied a network-based strategy to the Autism Genome Project (AGP and the Autism Genetics Resource Exchange GWAS datasets, combining family-based association data with Human Protein-Protein interaction (PPI data. Our analysis showed that autism-associated proteins at higher than conventional levels of significance (P<0.1 directly interact more than random expectation and are involved in a limited number of interconnected biological processes, indicating that they are functionally related. The functionally coherent networks generated by this approach contain ASD-relevant disease biology, as demonstrated by an improved positive predictive value and sensitivity in retrieving known ASD candidate genes relative to the top associated genes from either GWAS, as well as a higher gene overlap between the two ASD datasets. Analysis of the intersection between the networks obtained from the two ASD GWAS and six unrelated disease datasets identified fourteen genes exclusively present in the ASD networks. These are mostly novel genes involved in abnormal nervous system phenotypes in animal models, and in fundamental biological processes previously implicated in ASD, such as axon guidance, cell adhesion or cytoskeleton organization. Overall, our results highlighted novel susceptibility genes previously hidden within GWAS statistical "noise" that warrant further analysis for causal variants.

  12. Protein interaction networks reveal novel autism risk genes within GWAS statistical noise.

    Science.gov (United States)

    Correia, Catarina; Oliveira, Guiomar; Vicente, Astrid M

    2014-01-01

    Genome-wide association studies (GWAS) for Autism Spectrum Disorder (ASD) thus far met limited success in the identification of common risk variants, consistent with the notion that variants with small individual effects cannot be detected individually in single SNP analysis. To further capture disease risk gene information from ASD association studies, we applied a network-based strategy to the Autism Genome Project (AGP) and the Autism Genetics Resource Exchange GWAS datasets, combining family-based association data with Human Protein-Protein interaction (PPI) data. Our analysis showed that autism-associated proteins at higher than conventional levels of significance (P<0.1) directly interact more than random expectation and are involved in a limited number of interconnected biological processes, indicating that they are functionally related. The functionally coherent networks generated by this approach contain ASD-relevant disease biology, as demonstrated by an improved positive predictive value and sensitivity in retrieving known ASD candidate genes relative to the top associated genes from either GWAS, as well as a higher gene overlap between the two ASD datasets. Analysis of the intersection between the networks obtained from the two ASD GWAS and six unrelated disease datasets identified fourteen genes exclusively present in the ASD networks. These are mostly novel genes involved in abnormal nervous system phenotypes in animal models, and in fundamental biological processes previously implicated in ASD, such as axon guidance, cell adhesion or cytoskeleton organization. Overall, our results highlighted novel susceptibility genes previously hidden within GWAS statistical "noise" that warrant further analysis for causal variants.

  13. graph-GPA: A graphical model for prioritizing GWAS results and investigating pleiotropic architecture.

    Directory of Open Access Journals (Sweden)

    Dongjun Chung

    2017-02-01

    Full Text Available Genome-wide association studies (GWAS have identified tens of thousands of genetic variants associated with hundreds of phenotypes and diseases, which have provided clinical and medical benefits to patients with novel biomarkers and therapeutic targets. However, identification of risk variants associated with complex diseases remains challenging as they are often affected by many genetic variants with small or moderate effects. There has been accumulating evidence suggesting that different complex traits share common risk basis, namely pleiotropy. Recently, several statistical methods have been developed to improve statistical power to identify risk variants for complex traits through a joint analysis of multiple GWAS datasets by leveraging pleiotropy. While these methods were shown to improve statistical power for association mapping compared to separate analyses, they are still limited in the number of phenotypes that can be integrated. In order to address this challenge, in this paper, we propose a novel statistical framework, graph-GPA, to integrate a large number of GWAS datasets for multiple phenotypes using a hidden Markov random field approach. Application of graph-GPA to a joint analysis of GWAS datasets for 12 phenotypes shows that graph-GPA improves statistical power to identify risk variants compared to statistical methods based on smaller number of GWAS datasets. In addition, graph-GPA also promotes better understanding of genetic mechanisms shared among phenotypes, which can potentially be useful for the development of improved diagnosis and therapeutics. The R implementation of graph-GPA is currently available at https://dongjunchung.github.io/GGPA/.

  14. 10 CFR 603.515 - Qualification of a consortium.

    Science.gov (United States)

    2010-01-01

    ... Business Evaluation Recipient Qualification § 603.515 Qualification of a consortium. (a) A consortium that... articles of collaboration, which sets out the rights and responsibilities of each consortium member. This... consortium's (1) Management structure; (2) Method of making payments to consortium members; (3) Means of...

  15. Psychiatric services in Algeria.

    Science.gov (United States)

    Benmebarek, Zoubir

    2017-02-01

    The paper describes the current provision of psychiatric services in Algeria - in particular, in-patient and out-patient facilities, child psychiatry and human resources. Education, training, associations and research in the field of mental health are also briefly presented. The challenges that must dealt with to improve psychiatric care and to comply with international standards are listed, by way of conclusion.

  16. Psychiatric disorders and pregnancy

    Directory of Open Access Journals (Sweden)

    "SH. Akhondzadeh

    2006-07-01

    Full Text Available Psychiatric disorders are common in women during their childbearing years. Special considerations are needed when psychotic disorders present during pregnancy. Early identification and treatment of psychiatric disorders in pregnancy can prevent morbidity in pregnancy and in postpartum with the concomitant risks to mother and baby. Nevertheless, diagnosis of psychiatric illnesses during pregnancy is made more difficult by the overlap between symptoms of the disorders and symptoms of pregnancy. In majority of cases both psychotherapy and pharmacotherapy should be considered. However, psychiatric disorders in pregnancy are often under treated because of concerns about potential harmful effects of medication. This paper reviews findings about the presentation and course of major psychiatric disorders during pregnancy.

  17. Primary Psychiatric Diseases

    Directory of Open Access Journals (Sweden)

    Sibel Mercan

    2010-07-01

    Full Text Available The etiology of these dermatological diseases is entirely psychiatric origin. These patients show overconcern to their skin or self inflicted dermatoses unconsciously instead of facing with their real problems. In this group, delusions, dermatitis artefacta, trichotillomania, body dysmorphic disorder can be seen. They use denial as defence mechanism to their real psychiatric problems and prefer to apply dermatology instead of psychiatry. Dermatologist should be very careful before asking psychiatric consultation. Denial mechanism help patients to overcome agressive impulses like suicide or prevent further psychiatric damage like psychosis. Dermatologist should see these patients with short and frequent intervals with a good empathic approach. This will help to progress a powerful patient doctor relationship which will lead to a psychiatric evaluation.

  18. Perinatal psychiatric episodes

    DEFF Research Database (Denmark)

    Munk-Olsen, Trine; Maegbaek, M L; Johannsen, B M

    2016-01-01

    and childbirth, which suggests differences in the underlying etiology. We further speculate varying treatment incidence and prevalence in pregnancy vs postpartum may indicate that the current Diagnostic and Statistical Manual of Mental Disorders-5 peripartum specifier not adequately describes at-risk periods......Perinatal psychiatric episodes comprise various disorders and symptom severity, which are diagnosed and treated in multiple treatment settings. To date, no studies have quantified the incidence and prevalence of perinatal psychiatric episodes treated in primary and secondary care, which we aimed...... psychiatric facilities, 2.5 births were followed by an episode treated at outpatient psychiatric facility and 12 births by GP-provided pharmacological treatment. We interpret our results the following way: treated severe and moderate psychiatric disorders have different risk patterns in relation to pregnancy...

  19. MultiPhen: joint model of multiple phenotypes can increase discovery in GWAS.

    Directory of Open Access Journals (Sweden)

    Paul F O'Reilly

    Full Text Available The genome-wide association study (GWAS approach has discovered hundreds of genetic variants associated with diseases and quantitative traits. However, despite clinical overlap and statistical correlation between many phenotypes, GWAS are generally performed one-phenotype-at-a-time. Here we compare the performance of modelling multiple phenotypes jointly with that of the standard univariate approach. We introduce a new method and software, MultiPhen, that models multiple phenotypes simultaneously in a fast and interpretable way. By performing ordinal regression, MultiPhen tests the linear combination of phenotypes most associated with the genotypes at each SNP, and thus potentially captures effects hidden to single phenotype GWAS. We demonstrate via simulation that this approach provides a dramatic increase in power in many scenarios. There is a boost in power for variants that affect multiple phenotypes and for those that affect only one phenotype. While other multivariate methods have similar power gains, we describe several benefits of MultiPhen over these. In particular, we demonstrate that other multivariate methods that assume the genotypes are normally distributed, such as canonical correlation analysis (CCA and MANOVA, can have highly inflated type-1 error rates when testing case-control or non-normal continuous phenotypes, while MultiPhen produces no such inflation. To test the performance of MultiPhen on real data we applied it to lipid traits in the Northern Finland Birth Cohort 1966 (NFBC1966. In these data MultiPhen discovers 21% more independent SNPs with known associations than the standard univariate GWAS approach, while applying MultiPhen in addition to the standard approach provides 37% increased discovery. The most associated linear combinations of the lipids estimated by MultiPhen at the leading SNPs accurately reflect the Friedewald Formula, suggesting that MultiPhen could be used to refine the definition of existing

  20. Results of a "GWAS plus:" general cognitive ability is substantially heritable and massively polygenic.

    Directory of Open Access Journals (Sweden)

    Robert M Kirkpatrick

    Full Text Available We carried out a genome-wide association study (GWAS for general cognitive ability (GCA plus three other analyses of GWAS data that aggregate the effects of multiple single-nucleotide polymorphisms (SNPs in various ways. Our multigenerational sample comprised 7,100 Caucasian participants, drawn from two longitudinal family studies, who had been assessed with an age-appropriate IQ test and had provided DNA samples passing quality screens. We conducted the GWAS across ∼ 2.5 million SNPs (both typed and imputed, using a generalized least-squares method appropriate for the different family structures present in our sample, and subsequently conducted gene-based association tests. We also conducted polygenic prediction analyses under five-fold cross-validation, using two different schemes of weighting SNPs. Using parametric bootstrapping, we assessed the performance of this prediction procedure under the null. Finally, we estimated the proportion of variance attributable to all genotyped SNPs as random effects with software GCTA. The study is limited chiefly by its power to detect realistic single-SNP or single-gene effects, none of which reached genome-wide significance, though some genomic inflation was evident from the GWAS. Unit SNP weights performed about as well as least-squares regression weights under cross-validation, but the performance of both increased as more SNPs were included in calculating the polygenic score. Estimates from GCTA were 35% of phenotypic variance at the recommended biological-relatedness ceiling. Taken together, our results concur with other recent studies: they support a substantial heritability of GCA, arising from a very large number of causal SNPs, each of very small effect. We place our study in the context of the literature-both contemporary and historical-and provide accessible explication of our statistical methods.

  1. Connecting SNPs in Diabetes: a spatial analysis of meta-GWAS Loci

    Directory of Open Access Journals (Sweden)

    William Stewart Schierding

    2015-07-01

    Full Text Available Meta-analyses of genome-wide association studies (GWAS have improved our understanding of the genetic foundations of a number of diseases, including diabetes. However, SNPs that are identified by GWAS, especially those that fall outside of gene regions, do not always clearly link to the underlying biology. Despite this, these SNPs have often been validated through re-sequencing efforts as not just tag SNPs, but as causative SNPs, and so must play a role in disease development or progression. In this study, we show how the 3D genome (spatial connections and trans-expression Quantitative Trait Loci (trans-eQTL connect diabetes loci from different GWAS meta-analyses, informing the backbone of regulatory networks. Our findings include a three-way functional-spatial connection between the TM6SF2, CTRB1-BCAR1, and CELSR2-PSRC1 loci (rs201189528, rs7202844, and rs7202844, respectively connected through the KCNIP3 and BCAR1/BCAR3 loci, respectively. These spatial hubs serve as an example of how loci in genes with little biological connection to disease come together to contribute to the diabetes phenotype.

  2. Excess of Rare Variants in Non-GWAS Candidate Genes in Patients with Hypertriglyceridemia

    Science.gov (United States)

    Johansen, Christopher T.; Wang, Jian; McIntyre, Adam D.; Martins, Rebecca A.; Ban, Matthew R.; Lanktree, Matthew B.; Huff, Murray W.; Péterfy, Miklós; Mehrabian, Margarete; Lusis, Aldons J.; Kathiresan, Sekar; Anand, Sonia S.; Yusuf, Salim; Lee, Ann-Hwee; Glimcher, Laurie H.; Cao, Henian; Hegele, Robert A.

    2012-01-01

    Background Rare variant accumulation studies can implicate genes in disease susceptibility when a significant burden is observed in patients versus controls. Such analyses might be particularly useful for candidate genes that are selected based on experiments other than genome-wide association studies (GWAS). We sought to determine whether rare variants in non-GWAS candidate genes identified from mouse models and human Mendelian syndromes of hypertriglyceridemia (HTG) accumulate in patients with polygenic adult-onset HTG. Methods and Results We resequenced protein coding regions of 3 genes with established roles (APOC2, GPIHBP1, LMF1) and 2 genes recently implicated (CREB3L3 and ZHX3) in TG metabolism. We identified 41 distinct heterozygous rare variants, including 29 singleton variants, in the combined sample; in total, we observed 47 rare variants in 413 HTG patients versus 16 in 324 controls (OR=2.3; P=0.0050). Post hoc assessment of genetic burden in individual genes using three different tests suggested that the genetic burden was most prominent in the established genes LMF1 and APOC2, and also in the recently identified CREB3L3 gene. Conclusions These extensive resequencing studies show a significant accumulation of rare genetic variants in non-GWAS candidate genes among patients with polygenic HTG, and indicate the importance of testing specific hypotheses in large-scale resequencing studies. PMID:22135386

  3. GWAS Central: a comprehensive resource for the comparison and interrogation of genome-wide association studies.

    Science.gov (United States)

    Beck, Tim; Hastings, Robert K; Gollapudi, Sirisha; Free, Robert C; Brookes, Anthony J

    2014-07-01

    To facilitate broad and convenient integrative visualization of and access to GWAS data, we have created the GWAS Central resource (http://www.gwascentral.org). This database seeks to provide a comprehensive collection of summary-level genetic association data, structured both for maximal utility and for safe open access (i.e., non-directional signals to fully preclude research subject identification). The resource emphasizes on advanced tools that allow comparison and discovery of relevant data sets from the perspective of genes, genome regions, phenotypes or traits. Tested markers and relevant genomic features can be visually interrogated across up to 16 multiple association data sets in a single view, starting at a chromosome-wide view and increasing in resolution down to individual bases. In addition, users can privately upload and view their own data as temporary files. Search and display utility is further enhanced by exploiting phenotype ontology annotations to allow genetic variants associated with phenotypes and traits of interest to be precisely identified, across all studies. Data submissions are accepted from individual researchers, groups and consortia, whereas we also actively gather data sets from various public sources. As a result, the resource now provides over 67 million P-values for over 1600 studies, making it the world's largest openly accessible online collection of summary-level GWAS association information.

  4. Oxytocin and Psychiatric Disorders

    Directory of Open Access Journals (Sweden)

    Gokce Nur Say

    2016-06-01

    Full Text Available Oxytocin is a neuropeptide that plays critical role in mother-infant bonding, pair bonding and prosocial behaviors. Several neuropsychiatric disorders such as autism, schizophrenia, affective disorders, anxiety disorders, attention deficit/hyperactivity disorder, alcohol/substance addiction, aggression, suicide, eating disorders and personality disorders show abnormalities of oxytocin system. These findings have given rise to the studies searching therapeutic use of oxytocin for psychi-atric disorders. The studies of oxytocin interventions in psychiatric disorders yielded potentially promising findings. This paper reviews the role of oxytocin in emotions, behavior and its effects in psychiatric disorders. [Psikiyatride Guncel Yaklasimlar - Current Approaches in Psychiatry 2016; 8(2: 102-113

  5. The LBNL/JSU/AGMUS Science Consortium

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1996-04-01

    This report discusses the 11 year of accomplishments of the science consortium of minority graduates from Jackson State University and Ana G. Mendez University at the Lawrence Berkeley National Laboratory.

  6. Comprehensive Psychiatric Evaluation

    Science.gov (United States)

    ... Guide - Table of Contents Facts For Families Guide - View by Topic Chinese Facts for Families Guide ... Psychiatric Evaluation No. 52; Updated October 2017 Evaluation by a child and adolescent psychiatrist is appropriate for any child or adolescent ...

  7. Culture and Psychiatric Diagnosis

    OpenAIRE

    Lewis-Fernández, Roberto; Aggarwal, Neil Krishan

    2013-01-01

    Since the publication of DSM-IV in 1994, a number of components related to psychiatric diagnosis have come under criticism for their inaccuracies and inadequacies. Neurobiologists and anthropologists have particularly criticized the rigidity of DSM-IV diagnostic criteria that appear to exclude whole classes of alternate illness presentations as well as the lack of attention in contemporary psychiatric nosology to the role of contextual factors in the emergence and characteristics of psychopat...

  8. Hyperthyroidism and psychiatric morbidity

    DEFF Research Database (Denmark)

    Brandt, Frans; Thvilum, Marianne; Pedersen, Dorthe Almind

    2014-01-01

    Thyroid hormones are essential for the normal development of the fetal brain, while hyperthyroidism in adults is associated with mood symptoms and reduced quality of life. We aimed to investigate the association and temporal relation between hyperthyroidism and psychiatric morbidity.......Thyroid hormones are essential for the normal development of the fetal brain, while hyperthyroidism in adults is associated with mood symptoms and reduced quality of life. We aimed to investigate the association and temporal relation between hyperthyroidism and psychiatric morbidity....

  9. Psychiatric disorders and sleep issues.

    Science.gov (United States)

    Sutton, Eliza L

    2014-09-01

    Sleep issues are common in people with psychiatric disorders, and the interaction is complex. Sleep disorders, particularly insomnia, can precede and predispose to psychiatric disorders, can be comorbid with and exacerbate psychiatric disorders, and can occur as part of psychiatric disorders. Sleep disorders can mimic psychiatric disorders or result from medication given for psychiatric disorders. Impairment of sleep and of mental health may be different manifestations of the same underlying neurobiological processes. For the primary care physician, key tools include recognition of potential sleep effects of psychiatric medications and familiarity with treatment approaches for insomnia in depression and anxiety. Copyright © 2014 Elsevier Inc. All rights reserved.

  10. The Childhood Leukemia International Consortium

    Science.gov (United States)

    Metayer, Catherine; Milne, Elizabeth; Clavel, Jacqueline; Infante-Rivard, Claire; Petridou, Eleni; Taylor, Malcolm; Schüz, Joachim; Spector, Logan G.; Dockerty, John D.; Magnani, Corrado; Pombo-de-Oliveira, Maria S.; Sinnett, Daniel; Murphy, Michael; Roman, Eve; Monge, Patricia; Ezzat, Sameera; Mueller, Beth A.; Scheurer, Michael E.; Armstrong, Bruce K.; Birch, Jill; Kaatsch, Peter; Koifman, Sergio; Lightfoot, Tracy; Bhatti, Parveen; Bondy, Melissa L.; Rudant, Jérémie; O’Neill, Kate; Miligi, Lucia; Dessypris, Nick; Kang, Alice Y.; Buffler, Patricia A.

    2013-01-01

    Background Acute leukemia is the most common cancer in children under 15 years of age; 80% are acute lymphoblastic leukemia (ALL) and 17% are acute myeloid leukemia (AML). Childhood leukemia shows further diversity based on cytogenetic and molecular characteristics, which may relate to distinct etiologies. Case–control studies conducted worldwide, particularly of ALL, have collected a wealth of data on potential risk factors and in some studies, biospecimens. There is growing evidence for the role of infectious/immunologic factors, fetal growth, and several environmental factors in the etiology of childhood ALL. The risk of childhood leukemia, like other complex diseases, is likely to be influenced both by independent and interactive effects of genes and environmental exposures. While some studies have analyzed the role of genetic variants, few have been sufficiently powered to investigate gene–environment interactions. Objectives The Childhood Leukemia International Consortium (CLIC) was established in 2007 to promote investigations of rarer exposures, gene–environment interactions and subtype-specific associations through the pooling of data from independent studies. Methods By September 2012, CLIC included 22 studies (recruitment period: 1962–present) from 12 countries, totaling approximately 31 000 cases and 50 000 controls. Of these, 19 case–control studies have collected detailed epidemiologic data, and DNA samples have been collected from children and child–parent trios in 15 and 13 of these studies, respectively. Two registry-based studies and one study comprising hospital records routinely obtained at birth and/or diagnosis have limited interview data or biospecimens. Conclusions CLIC provides a unique opportunity to fill gaps in knowledge about the role of environmental and genetic risk factors, critical windows of exposure, the effects of gene–environment interactions and associations among specific leukemia subtypes in different ethnic

  11. Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.

    Science.gov (United States)

    Deng, Xutao; Sabino, Ester C; Cunha-Neto, Edecio; Ribeiro, Antonio L; Ianni, Barbara; Mady, Charles; Busch, Michael P; Seielstad, Mark

    2013-01-01

    Familial aggregation of Chagas cardiac disease in T. cruzi-infected persons suggests that human genetic variation may be an important determinant of disease progression. To perform a GWAS using a well-characterized cohort to detect single nucleotide polymorphisms (SNPs) and genes associated with cardiac outcomes. A retrospective cohort study was developed by the NHLBI REDS-II program in Brazil. Samples were collected from 499 T. cruzi seropositive blood donors who had donated between 1996 and 2002, and 101 patients with clinically diagnosed Chagas cardiomyopathy. In 2008-2010, all subjects underwent a complete medical examination. After genotype calling, quality control filtering with exclusion of 20 cases, and imputation of 1,000 genomes variants; association analysis was performed for 7 cardiac and parasite related traits, adjusting for population stratification. The cohort showed a wide range of African, European, and modest Native American admixture proportions, consistent with the recent history of Brazil. No SNPs were found to be highly (P<10(-8)) associated with cardiomyopathy. The two mostly highly associated SNPs for cardiomyopathy (rs4149018 and rs12582717; P-values <10(-6)) are located on Chromosome 12p12.2 in the SLCO1B1 gene, a solute carrier family member. We identified 44 additional genic SNPs associated with six traits at P-value <10(-6): Ejection Fraction, PR, QRS, QT intervals, antibody levels by EIA, and parasitemia by PCR. This GWAS identified suggestive SNPs that may impact the risk of progression to cardiomyopathy. Although this Chagas cohort is the largest examined by GWAS to date, (580 subjects), moderate sample size may explain in part the limited number of significant SNP variants. Enlarging the current sample through expanded cohorts and meta-analyses, and targeted studies of candidate genes, will be required to confirm and extend the results reported here. Future studies should also include exposed seronegative controls to investigate

  12. Evaluating GWAS-identified SNPs for age at natural menopause among chinese women.

    Directory of Open Access Journals (Sweden)

    Chong Shen

    Full Text Available Age at natural menopause (ANM is a complex trait with high heritability and is associated with several major hormonal-related diseases. Recently, several genome-wide association studies (GWAS, conducted exclusively among women of European ancestry, have discovered dozens of genetic loci influencing ANM. No study has been conducted to evaluate whether these findings can be generalized to Chinese women.We evaluated the index single nucleotide polymorphisms (SNPs in 19 GWAS-identified genetic susceptibility loci for ANM among 3,533 Chinese women who had natural menopause. We also investigated 3 additional SNPs which were in LD with the index SNP in European-ancestry but not in Asian-ancestry populations. Two genetic risk scores (GRS were calculated to summarize SNPs across multiple loci one for all SNPs tested (GRSall, and one for SNPs which showed association in our study (GRSsel. All 22 SNPs showed the same association direction as previously reported. Eight SNPs were nominally statistically significant with P≤0.05: rs4246511 (RHBDL2, rs12461110 (NLRP11, rs2307449 (POLG, rs12611091 (BRSK1, rs1172822 (BRSK1, rs365132 (UIMC1, rs2720044 (ASH2L, and rs7246479 (TMEM150B. Especially, SNPs rs4246511, rs365132, rs1172822, and rs7246479 remained significant even after Bonferroni correction. Significant associations were observed for GRS. Women in the highest quartile began menopause 0.7 years (P = 3.24×10(-9 and 0.9 years (P = 4.61×10(-11 later than those in the lowest quartile for GRSsel and GRSall, respectively.Among the 22 investigated SNPs, eight showed associations with ANM (P<0.05 in our Chinese population. Results from this study extend some recent GWAS findings to the Asian-ancestry population and may guide future efforts to identify genetic determination of menopause.

  13. Replication of LDL GWAs hits in PROSPER/PHASE as validation for future (pharmacogenetic analyses

    Directory of Open Access Journals (Sweden)

    Stott David J

    2011-10-01

    Full Text Available Abstract Background The PHArmacogenetic study of Statins in the Elderly at risk (PHASE is a genome wide association study in the PROspective Study of Pravastatin in the Elderly at risk for vascular disease (PROSPER that investigates the genetic variation responsible for the individual variation in drug response to pravastatin. Statins lower LDL-cholesterol in general by 30%, however not in all subjects. Moreover, clinical response is highly variable and adverse effects occur in a minority of patients. In this report we first describe the rationale of the PROSPER/PHASE project and second show that the PROSPER/PHASE study can be used to study pharmacogenetics in the elderly. Methods The genome wide association study (GWAS was conducted using the Illumina 660K-Quad beadchips following manufacturer's instructions. After a stringent quality control 557,192 SNPs in 5,244 subjects were available for analysis. To maximize the availability of genetic data and coverage of the genome, imputation up to 2.5 million autosomal CEPH HapMap SNPs was performed with MACH imputation software. The GWAS for LDL-cholesterol is assessed with an additive linear regression model in PROBABEL software, adjusted for age, sex, and country of origin to account for population stratification. Results Forty-two SNPs reached the GWAS significant threshold of p = 5.0e-08 in 5 genomic loci (APOE/APOC1; LDLR; FADS2/FEN1; HMGCR; PSRC1/CELSR5. The top SNP (rs445925, chromosome 19 with a p-value of p = 2.8e-30 is located within the APOC1 gene and near the APOE gene. The second top SNP (rs6511720, chromosome 19 with a p-value of p = 5.22e-15 is located within the LDLR gene. All 5 genomic loci were previously associated with LDL-cholesterol levels, no novel loci were identified. Replication in WOSCOPS and CARE confirmed our results. Conclusion With the GWAS in the PROSPER/PHASE study we confirm the previously found genetic associations with LDL-cholesterol levels. With this proof

  14. A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium.

    LENUS (Irish Health Repository)

    McKay, James D

    2011-03-01

    Genome-wide association studies (GWAS) have been successful in identifying common genetic variation involved in susceptibility to etiologically complex disease. We conducted a GWAS to identify common genetic variation involved in susceptibility to upper aero-digestive tract (UADT) cancers. Genome-wide genotyping was carried out using the Illumina HumanHap300 beadchips in 2,091 UADT cancer cases and 3,513 controls from two large European multi-centre UADT cancer studies, as well as 4,821 generic controls. The 19 top-ranked variants were investigated further in an additional 6,514 UADT cancer cases and 7,892 controls of European descent from an additional 13 UADT cancer studies participating in the INHANCE consortium. Five common variants presented evidence for significant association in the combined analysis (p ≤ 5 × 10⁻⁷). Two novel variants were identified, a 4q21 variant (rs1494961, p = 1×10⁻⁸) located near DNA repair related genes HEL308 and FAM175A (or Abraxas) and a 12q24 variant (rs4767364, p =2 × 10⁻⁸) located in an extended linkage disequilibrium region that contains multiple genes including the aldehyde dehydrogenase 2 (ALDH2) gene. Three remaining variants are located in the ADH gene cluster and were identified previously in a candidate gene study involving some of these samples. The association between these three variants and UADT cancers was independently replicated in 5,092 UADT cancer cases and 6,794 controls non-overlapping samples presented here (rs1573496-ADH7, p = 5 × 10⁻⁸); rs1229984-ADH1B, p = 7 × 10⁻⁹; and rs698-ADH1C, p = 0.02). These results implicate two variants at 4q21 and 12q24 and further highlight three ADH variants in UADT cancer susceptibility.

  15. A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium.

    Directory of Open Access Journals (Sweden)

    James D McKay

    2011-03-01

    Full Text Available Genome-wide association studies (GWAS have been successful in identifying common genetic variation involved in susceptibility to etiologically complex disease. We conducted a GWAS to identify common genetic variation involved in susceptibility to upper aero-digestive tract (UADT cancers. Genome-wide genotyping was carried out using the Illumina HumanHap300 beadchips in 2,091 UADT cancer cases and 3,513 controls from two large European multi-centre UADT cancer studies, as well as 4,821 generic controls. The 19 top-ranked variants were investigated further in an additional 6,514 UADT cancer cases and 7,892 controls of European descent from an additional 13 UADT cancer studies participating in the INHANCE consortium. Five common variants presented evidence for significant association in the combined analysis (p ≤ 5 × 10⁻⁷. Two novel variants were identified, a 4q21 variant (rs1494961, p = 1×10⁻⁸ located near DNA repair related genes HEL308 and FAM175A (or Abraxas and a 12q24 variant (rs4767364, p =2 × 10⁻⁸ located in an extended linkage disequilibrium region that contains multiple genes including the aldehyde dehydrogenase 2 (ALDH2 gene. Three remaining variants are located in the ADH gene cluster and were identified previously in a candidate gene study involving some of these samples. The association between these three variants and UADT cancers was independently replicated in 5,092 UADT cancer cases and 6,794 controls non-overlapping samples presented here (rs1573496-ADH7, p = 5 × 10⁻⁸; rs1229984-ADH1B, p = 7 × 10⁻⁹; and rs698-ADH1C, p = 0.02. These results implicate two variants at 4q21 and 12q24 and further highlight three ADH variants in UADT cancer susceptibility.

  16. Psychiatric Aspects of Infertility

    Directory of Open Access Journals (Sweden)

    Hacer Sezgin

    2014-06-01

    Full Text Available Infertility can be defined as a crisis with cultural, religious, and class related aspects, which coexists with medical, psychiatric, psychological, and social problems. Relation between psychiatric and psychological factors stem from a mutual interaction of both. Family is an important institution in maintaining human existence and raising individuals in line with society's expectations. Fertility and reproduction are seen as universal functions unique to women with raising children as the expected result of the family institution. Incidence of infertility has increased recently and can become a life crisis for a couple. Even though not being able to have a child affects both sexes emotionally, women feel greater amounts of stress, pressure, anxiety, and depression.Consequences of infertility arise from short and long-term devastating effects on both individual's physical and mental health, and marital system. Many studies focus on infertility related psychological and psychiatric disorders (depression, anxiety, grief, marital conflict, gender differences, relation between the causes of infertility and psychopathology, the effects of psychiatric evaluation and intervention -when necessaryon the course of infertility treatment, pregnancy rates, and childbirth. The most important underlying causes of high levels of stress and anxiety that infertile women experience are the loss of maternity, reproduction, sense of self, and genetic continuity. In this review article is to investigate the relationship between medically unexplained symptoms and psychiatric symptoms. [Psikiyatride Guncel Yaklasimlar - Current Approaches in Psychiatry 2014; 6(2.000: 165-185

  17. Psychiatric patient and anaesthesia

    Directory of Open Access Journals (Sweden)

    Joginder Pal Attri

    2012-01-01

    Full Text Available Many patients with psychiatric illnesses are prescribed long-term drug treatment, and the anaesthesiologist must be aware of potential interactions with anaesthetic agents. Psychotropic drugs often given in combination with each other or with other non-psychiatric drugs generally exert profound effects on the central and peripheral neurotransmitter and ionic mechanisms. Hence, prior intake of these drugs is an important consideration in the management of the patient about to undergo anaesthesia and surgery. This article highlights the effects of anaesthetics on patients taking antipsychotics, tricyclic antidepressants, monoamine oxidase inhibitors and lithium carbonate. The risk that should be considered in the perioperative period are the extent of surgery, the patient′s physical state, anaesthesia, the direct and indirect effects of psychotropics, risk of withdrawal symptoms and risk of psychiatric recurrence and relapse.

  18. Identification of loci controlling forage yield and nutritive value in diploid alfalfa using GBS-GWAS.

    Science.gov (United States)

    Sakiroglu, Muhammet; Brummer, E Charles

    2017-02-01

    We attempted to identify genomic regions controlling forage yield and nutritive value in alfalfa. Several candidate genes and associated genetic markers were identified that could potentially be useful for alfalfa breeding to more efficiently develop improved cultivars. Alfalfa is one of the most widely cultivated forage legumes worldwide and improving alfalfa forage yield and nutritive value is a major global breeding goal. Genotyping-by-sequencing (GBS) provides cost-effective molecular marker genotyping for genome-wide association studies (GWAS). Using more than 15,000 genome-wide single nucleotide polymorphisms (SNP) identified from GBS, we conducted a GWAS to investigate forage yield and nutritive value-related traits. We have detected a number of associations for all the traits evaluated and a number of associations detected were located on the Medicago truncatula genome. The SNP in a coding region of a cell wall biosynthesis gene was associated with several cell wall-related traits, and we suggest that it may be the causative polymorphism. Two other SNPs residing in meristematic development and early growth genes were found to associate with the total biomass yield. None of the SNPs associated with regrowth after harvest or with spring regrowth were mapped to the M. truncatula genome, possibly reflecting the fact that M. truncatula is an annual species related to alfalfa that typically has limited ability to regrow. The alleles we identify with the major impact on forage yield and nutritive value can be rapidly incorporated into our breeding program.

  19. Commentary on a GWAS: HDAC9 and the risk for ischaemic stroke

    Directory of Open Access Journals (Sweden)

    Hacke Werner

    2012-07-01

    Full Text Available Abstract Modifiable risk factors like obesity, hypertension, smoking, physical inactivity or atrial fibrillation account for a significant proportion of the risk for ischaemic stroke, but genetic variation is also believed to contribute to the risk, although few genetic risk variants were identified to date. Common clinical subtypes of stroke are caused by cardiac embolism, large artery atherosclerosis and small cerebral vessel disease. Each of these underlying pathologies may have a specific genetic architecture. Previous genome-wide association studies (GWAS showed association of variants near PITX2 and ZFHX3 with atrial fibrillation and stroke. ANRIL (antisense Non-coding RNA in the INK4 Locus (harboring the CDKN2A/B genes variants were related to a variety of vascular diseases (myocardial infarction, aortic and intracranial aneurysm, including ischaemic stroke. Now a recent GWAS published in Nature Genetics confirmed these previous associations, analyzed the specificity of the previous associations with particular stroke subtypes and identified a new association between HDAC9 and large vessel stroke. The findings suggest that well-recognized clinical stroke subtypes correspond to distinct aetiological entities. However, the molecular pathways that are affected by the identified genetic variants are not yet pinpointed, and the observed associations apply only for some, but not all victims of a specific stroke aetiology.

  20. Binomial mixture model-based association testing to account for genetic heterogeneity for GWAS

    Science.gov (United States)

    Xu, Zhiyuan; Pan, Wei

    2016-01-01

    Genome-wide association studies (GWASs) have confirmed the ubiquitous existence of genetic heterogeneity for common disease: multiple common genetic variants have been identified to be associated, while many more are yet expected to be uncovered. On the other hand, the single SNP-based trend test (or its variants) that has been dominantly used in GWASs is based on contrasting the allele frequency difference between the case and control groups, completely ignoring possible genetic heterogeneity. In spite of the widely accepted notion of genetic heterogeneity, we are not aware of any previous attempt to apply genetic heterogeneity-motivated methods in GWAS. Here, to explicitly account for unknown genetic heterogeneity, we applied a mixture model-based single SNP test to the WTCCC GWAS data with traits Crohn’s disease, bipolar disease, coronary artery disease and type 2 diabetes, identifying much larger numbers of significant SNPs and risk loci for each trait than those of the popular trend test, demonstrating potential power gain of the mixture model-based test. PMID:26916514

  1. Genetic Basis of Chronotype in Humans: Insights From Three Landmark GWAS.

    Science.gov (United States)

    Kalmbach, David A; Schneider, Logan D; Cheung, Joseph; Bertrand, Sarah J; Kariharan, Thiruchelvam; Pack, Allan I; Gehrman, Philip R

    2017-02-01

    Chronotype, or diurnal preference, refers to behavioral manifestations of the endogenous circadian system that governs preferred timing of sleep and wake. As variations in circadian timing and system perturbations are linked to disease development, the fundamental biology of chronotype has received attention for its role in the regulation and dysregulation of sleep and related illnesses. Family studies indicate that chronotype is a heritable trait, thus directing attention toward its genetic basis. Although discoveries from molecular studies of candidate genes have shed light onto its genetic architecture, the contribution of genetic variation to chronotype has remained unclear with few related variants identified. In the advent of large-scale genome-wide association studies (GWAS), scientists now have the ability to discover novel common genetic variants associated with complex phenotypes. Three recent large-scale GWASs of chronotype were conducted on subjects of European ancestry from the 23andMe cohort and the UK Biobank. This review discusses the findings of these landmark GWASs in the context of prior research. We systematically reviewed and compared methodological and analytical approaches and results across the three GWASs of chronotype. A good deal of consistency was observed across studies with 9 genes identified in 2 of the 3 GWASs. Several genes previously unknown to influence chronotype were identified. GWAS is an important tool in identifying common variants associated with the complex chronotype phenotype, the findings of which can supplement and guide molecular science. Future directions in model systems and discovery of rare variants are discussed.

  2. Coordinating GWAS results with gene expression in a systems immunologic paradigm in autoimmunity.

    Science.gov (United States)

    Stranger, Barbara E; De Jager, Phillip L

    2012-10-01

    There has been considerable progress in our understanding of the genetic architecture of susceptibility to inflammatory diseases in recent years: several hundred susceptibility loci have been discovered in genome-wide association studies (GWAS) of human populations. This success has created an important challenge in identifying the functional consequences of these risk-associated variants and in elucidating how the repercussions of individual susceptibility loci integrate to yield dysregulation of immune pathways and, ultimately, syndromic clinical phenotypes. The integration of GWAS association signals with high-resolution transcriptome and other genomic data that capture the dynamics of cellular state and function in the context of individual's collection of susceptibility alleles has proven to be a successful avenue of investigation. The rapid pace of methodological development in this area has been coupled with an accumulation of experimental data that makes the elucidation of complex biological networks underlying susceptibility to these common inflammatory diseases a reasonable goal in the near future. Copyright © 2012 Elsevier Ltd. All rights reserved.

  3. Genetic Susceptibility to Vitiligo: GWAS Approaches for Identifying Vitiligo Susceptibility Genes and Loci

    Science.gov (United States)

    Shen, Changbing; Gao, Jing; Sheng, Yujun; Dou, Jinfa; Zhou, Fusheng; Zheng, Xiaodong; Ko, Randy; Tang, Xianfa; Zhu, Caihong; Yin, Xianyong; Sun, Liangdan; Cui, Yong; Zhang, Xuejun

    2016-01-01

    Vitiligo is an autoimmune disease with a strong genetic component, characterized by areas of depigmented skin resulting from loss of epidermal melanocytes. Genetic factors are known to play key roles in vitiligo through discoveries in association studies and family studies. Previously, vitiligo susceptibility genes were mainly revealed through linkage analysis and candidate gene studies. Recently, our understanding of the genetic basis of vitiligo has been rapidly advancing through genome-wide association study (GWAS). More than 40 robust susceptible loci have been identified and confirmed to be associated with vitiligo by using GWAS. Most of these associated genes participate in important pathways involved in the pathogenesis of vitiligo. Many susceptible loci with unknown functions in the pathogenesis of vitiligo have also been identified, indicating that additional molecular mechanisms may contribute to the risk of developing vitiligo. In this review, we summarize the key loci that are of genome-wide significance, which have been shown to influence vitiligo risk. These genetic loci may help build the foundation for genetic diagnosis and personalize treatment for patients with vitiligo in the future. However, substantial additional studies, including gene-targeted and functional studies, are required to confirm the causality of the genetic variants and their biological relevance in the development of vitiligo. PMID:26870082

  4. A comparison study of succinct data structures for use in GWAS.

    Science.gov (United States)

    Putnam, Patrick P; Zhang, Ge; Wilsey, Philip A

    2013-12-21

    In recent years genetic data analysis has seen a rapid increase in the scale of data to be analyzed. Schadt et al (NRG 11:647-657, 2010) offered that with data sets approaching the petabyte scale, data related challenges such as formatting, management, and transfer are increasingly important topics which need to be addressed. The use of succinct data structures is one method of reducing physical size of a data set without the use of expensive compression techniques. In this work, we consider the use of 2- and 3-bit encoding schemes for genotype data. We compare the computational performance of allele or genotype counting algorithms utilizing genotype data encoded in both schemes. We perform a comparison of 2- and 3-bit genotype encoding schemes for use in genotype counting algorithms. We find that there is a 20% overhead when building simple frequency tables from 2-bit encoded genotypes. However, building pairwise count tables for genome-wide epistasis is 1.0% more efficient. In this work, we were concerned with comparing the performance benefits and disadvantages of using more densely packed genotype data representations in Genome Wide Associations Studies (GWAS). We implemented a 2-bit encoding for genotype data, and compared it against a more commonly used 3-bit encoding scheme. We also developed a C++ library, libgwaspp, which offers these data structures, and implementations of several common GWAS algorithms. In general, the 2-bit encoding consumes less memory, and is slightly more efficient in some algorithms than the 3-bit encoding.

  5. A comprehensive psychiatric service

    DEFF Research Database (Denmark)

    Wang, A G

    1984-01-01

    A comprehensive psychiatric service was established in 1969 in the Faroe Islands. This service was created as a department of a general hospital. The spheres covered by this department, operating in the midst of the community were: acute and chronic patients, a liaison-psychiatric service......, and an outpatient service. The number of chronic patients has not decreased, due to an influx of unruly senile patients. The close proximity of the service to the community has increased the pressure with regard to the care of such patients. Other services, such as outpatient treatment of alcoholics and neurotics...

  6. A comprehensive psychiatric service

    DEFF Research Database (Denmark)

    Wang, A G

    1984-01-01

    , and an outpatient service. The number of chronic patients has not decreased, due to an influx of unruly senile patients. The close proximity of the service to the community has increased the pressure with regard to the care of such patients. Other services, such as outpatient treatment of alcoholics and neurotics......A comprehensive psychiatric service was established in 1969 in the Faroe Islands. This service was created as a department of a general hospital. The spheres covered by this department, operating in the midst of the community were: acute and chronic patients, a liaison-psychiatric service...

  7. Viability of Azotobacter consortium in auxin production

    Science.gov (United States)

    Zulaika, Enny; Solikhah, Farihatus; Alami, Nur Hidayatul; Kuswytasari, Nengah Dwianita; Shovitri, Maya

    2017-06-01

    Azotobacter is a kind of rhizobacteria which is abundant in soil and having beneficial for plants due to its ability to produce auxin. Each isolated Azotobacter from Eco Urban Farming ITS were able to produce auxin individually. However, the isolated Azotobacter consortium was prefer to produce more auxin than the individual one. Synergism test were carried out in order to verify non-antagonism among Azotobacter isolates. Auxin production test was conducted by inoculating 100 ml of Azotobacter consortium starter in 400 ml nutrient broth by addition of 1.000 ppm of L-tryptophan while shaking 100 rpm in rotary shaker at room temperature for 8 weeks. Auxin concentration was measured spectrophotometrically according to the Salkowski method. The Azotobacter consortium showed living synergistically and able to produce 1,82 ppm auxin in 2 hours incubation time although the concentration was tend to decrease periodically.

  8. Grid Modernization Laboratory Consortium - Testing and Verification

    Energy Technology Data Exchange (ETDEWEB)

    Kroposki, Benjamin; Skare, Paul; Pratt, Rob; Kim, Tom; Ellis, Abraham

    2017-05-11

    This paper highlights some of the unique testing capabilities and projects being performed at several national laboratories as part of the U. S. Department of Energy Grid Modernization Laboratory Consortium. As part of this effort, the Grid Modernization Laboratory Consortium Testing Network isbeing developed to accelerate grid modernization by enablingaccess to a comprehensive testing infrastructure and creating a repository of validated models and simulation tools that will be publicly available. This work is key to accelerating thedevelopment, validation, standardization, adoption, and deployment of new grid technologies to help meet U. S. energy goals.

  9. Psychiatric impairment and

    African Journals Online (AJOL)

    2002-12-03

    Dec 3, 2002 ... Impairment and disability assessment on psychiatric grounds has always been subjective, controversial ... informed medical advisors doing their disability assessments. Many of these advisors have expressed ..... that will empower the affected employee and that is non- stigma- tising. In order to do so it is ...

  10. Aggression in Psychiatric Wards

    DEFF Research Database (Denmark)

    Hvidhjelm, Jacob; Sestoft, Dorte; Skovgaard, Lene Theil

    2016-01-01

    Health care workers are often exposed to violence and aggression in psychiatric settings. Short-term risk assessments, such as the Brøset Violence Checklist (BVC), are strong predictors of such aggression and may enable staff to take preventive measures against aggression. This study evaluated wh...

  11. Psychiatric genetics:AJP

    African Journals Online (AJOL)

    Pippa

    their caregivers in South Africa. The heritability of the majority of the psychiatric disorders is ... linkage analyses in a cohort of Bantu-speaking black South. Africans.17-22 Areas of implied linkage to schizophrenia ... one of the studies of a Bantu-speaking schizophrenia cohort. Table I. Glossary of genetic terminology. Allele.

  12. Cerebellum and psychiatric disorders

    OpenAIRE

    Baldaçara,Leonardo; Borgio,João Guilherme Fiorani; Lacerda,Acioly Luiz Tavares de; Jackowski,Andrea Parolin

    2008-01-01

    OBJECTIVE: The objective of this update article is to report structural and functional neuroimaging studies exploring the potential role of cerebellum in the pathophysiology of psychiatric disorders. METHOD: A non-systematic literature review was conducted by means of Medline using the following terms as a parameter: "cerebellum", "cerebellar vermis", "schizophrenia", "bipolar disorder", "depression", "anxiety disorders", "dementia" and "attention deficit hyperactivity disorder". The electron...

  13. The eMERGE Network: A consortium of biorepositories linked to electronic medical records data for conducting genomic studies

    Directory of Open Access Journals (Sweden)

    McCarty Catherine A

    2011-01-01

    Full Text Available Abstract Introduction The eMERGE (electronic MEdical Records and GEnomics Network is an NHGRI-supported consortium of five institutions to explore the utility of DNA repositories coupled to Electronic Medical Record (EMR systems for advancing discovery in genome science. eMERGE also includes a special emphasis on the ethical, legal and social issues related to these endeavors. Organization The five sites are supported by an Administrative Coordinating Center. Setting of network goals is initiated by working groups: (1 Genomics, (2 Informatics, and (3 Consent & Community Consultation, which also includes active participation by investigators outside the eMERGE funded sites, and (4 Return of Results Oversight Committee. The Steering Committee, comprised of site PIs and representatives and NHGRI staff, meet three times per year, once per year with the External Scientific Panel. Current progress The primary site-specific phenotypes for which samples have undergone genome-wide association study (GWAS genotyping are cataract and HDL, dementia, electrocardiographic QRS duration, peripheral arterial disease, and type 2 diabetes. A GWAS is also being undertaken for resistant hypertension in ≈2,000 additional samples identified across the network sites, to be added to data available for samples already genotyped. Funded by ARRA supplements, secondary phenotypes have been added at all sites to leverage the genotyping data, and hypothyroidism is being analyzed as a cross-network phenotype. Results are being posted in dbGaP. Other key eMERGE activities include evaluation of the issues associated with cross-site deployment of common algorithms to identify cases and controls in EMRs, data privacy of genomic and clinically-derived data, developing approaches for large-scale meta-analysis of GWAS data across five sites, and a community consultation and consent initiative at each site. Future activities Plans are underway to expand the network in diversity of

  14. A Markov blanket-based method for detecting causal SNPs in GWAS

    Directory of Open Access Journals (Sweden)

    Han Bing

    2010-04-01

    Full Text Available Abstract Background Detecting epistatic interactions associated with complex and common diseases can help to improve prevention, diagnosis and treatment of these diseases. With the development of genome-wide association studies (GWAS, designing powerful and robust computational method for identifying epistatic interactions associated with common diseases becomes a great challenge to bioinformatics society, because the study of epistatic interactions often deals with the large size of the genotyped data and the huge amount of combinations of all the possible genetic factors. Most existing computational detection methods are based on the classification capacity of SNP sets, which may fail to identify SNP sets that are strongly associated with the diseases and introduce a lot of false positives. In addition, most methods are not suitable for genome-wide scale studies due to their computational complexity. Results We propose a new Markov Blanket-based method, DASSO-MB (Detection of ASSOciations using Markov Blanket to detect epistatic interactions in case-control GWAS. Markov blanket of a target variable T can completely shield T from all other variables. Thus, we can guarantee that the SNP set detected by DASSO-MB has a strong association with diseases and contains fewest false positives. Furthermore, DASSO-MB uses a heuristic search strategy by calculating the association between variables to avoid the time-consuming training process as in other machine-learning methods. We apply our algorithm to simulated datasets and a real case-control dataset. We compare DASSO-MB to other commonly-used methods and show that our method significantly outperforms other methods and is capable of finding SNPs strongly associated with diseases. Conclusions Our study shows that DASSO-MB can identify a minimal set of causal SNPs associated with diseases, which contains less false positives compared to other existing methods. Given the huge size of genomic dataset

  15. Primary Immune Deficiency Treatment Consortium (PIDTC) report

    NARCIS (Netherlands)

    L.M. Griffith (Linda); M. Cowan (Morton); L.D. Notarangelo (Luigi Daniele); R. Kohn (Robert); J. Puck (Jennifer); S.-Y. Pai (Sung-Yun); B. Ballard (Barbara); S.C. Bauer (Sarah); J. Bleesing (Jack); M. Boyle (Marcia); R.W. Brower (Ronald); R.H. Buckley (Rebecca); M. van der Burg (Mirjam); L.M. Burroughs (Lauri); F. Candotti (Fabio); A. Cant (Andrew); T. Chatila (Talal); C. Cunningham-Rundles (Charlotte); M.C. Dinauer (Mary); J. Dvorak (Jennie); A. Filipovich (Alexandra); L.A. Fleisher (Lee); H.B. Gaspar (Bobby); T. Gungor (Tayfun); E. Haddad (Elie); E. Hovermale (Emily); F. Huang (Faith); A. Hurley (Alan); M. Hurley (Mary); S.K. Iyengar (Sudha); E.M. Kang (Elizabeth); B.R. Logan (Brent); J.R. Long-Boyle (Janel); H. Malech (Harry); S.A. McGhee (Sean); S. Modell (Sieglinde); S. Modell (Sieglinde); H.D. Ochs (Hans); R.J. O'Reilly (Richard); R. Parkman (Robertson); D. Rawlings (D.); J.M. Routes (John); P. Shearer (P.); T.N. Small (Trudy); H. Smith (H.); K.E. Sullivan (Kathleen); P. Szabolcs (Paul); A.J. Thrasher (Adrian); D. Torgerson; P. Veys (Paul); K. Weinberg (Kenneth); J.C. Zuniga-Pflucker (Juan Carlos)

    2014-01-01

    textabstractThe Primary Immune Deficiency Treatment Consortium (PIDTC) is a network of 33 centers in North America that study the treatment of rare and severe primary immunodeficiency diseases. Current protocols address the natural history of patients treated for severe combined immunodeficiency

  16. National STEM Consortium Evaluation. Final Report

    Science.gov (United States)

    Stewart, Sarah

    2015-01-01

    Acting as the lead agency for the "National STEM Consortium" (NSC), Anne Arundel Community College (AACC) engaged Hezel Associates to provide an independent program and impact evaluation of the U.S. Department of Labor (USDOL)-funded STEM certificate initiative. This report is comprehensive and covers the findings from all 4 years of the…

  17. Global Consortium on Security Transformation | IDRC - International ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    ... the displaced, the oppressed. It is hoped that by linking Southern researchers, policymakers and civil society organizations, the Consortium will empower them to challenge Northern-dominated security discourse and practice, and foster creative alternatives to dysfunctional security architecture using human security as a ...

  18. Using prior information from the medical literature in GWAS of oral cancer identifies novel susceptibility variant on chromosome 4--the AdAPT method.

    LENUS (Irish Health Repository)

    Johansson, Mattias

    2012-01-01

    Genome-wide association studies (GWAS) require large sample sizes to obtain adequate statistical power, but it may be possible to increase the power by incorporating complementary data. In this study we investigated the feasibility of automatically retrieving information from the medical literature and leveraging this information in GWAS.

  19. Gene set analysis of GWAS data for human longevity highlights the relevance of the insulin/IGF-1 signaling and telomere maintenance pathways

    NARCIS (Netherlands)

    Deelen, J.; Uh, H.W.; Monajemi, R.; Heemst, D. van; Thijssen, P.E.; Bohringer, S.; Akker, E.B. van den; Craen, A.J. de; Rivadeneira, F.; Uitterlinden, A.G.; Westendorp, R.G.J.; Goeman, J.J.; Slagboom, P.E.; Houwing-Duistermaat, J.J.; Beekman, M.

    2013-01-01

    In genome-wide association studies (GWAS) of complex traits, single SNP analysis is still the most applied approach. However, the identified SNPs have small effects and provide limited biological insight. A more appropriate approach to interpret GWAS data of complex traits is to analyze the combined

  20. GWAS of clinically defined gout and subtypes identifies multiple susceptibility loci that include urate transporter genes.

    Science.gov (United States)

    Nakayama, Akiyoshi; Nakaoka, Hirofumi; Yamamoto, Ken; Sakiyama, Masayuki; Shaukat, Amara; Toyoda, Yu; Okada, Yukinori; Kamatani, Yoichiro; Nakamura, Takahiro; Takada, Tappei; Inoue, Katsuhisa; Yasujima, Tomoya; Yuasa, Hiroaki; Shirahama, Yuko; Nakashima, Hiroshi; Shimizu, Seiko; Higashino, Toshihide; Kawamura, Yusuke; Ogata, Hiraku; Kawaguchi, Makoto; Ohkawa, Yasuyuki; Danjoh, Inaho; Tokumasu, Atsumi; Ooyama, Keiko; Ito, Toshimitsu; Kondo, Takaaki; Wakai, Kenji; Stiburkova, Blanka; Pavelka, Karel; Stamp, Lisa K; Dalbeth, Nicola; Sakurai, Yutaka; Suzuki, Hiroshi; Hosoyamada, Makoto; Fujimori, Shin; Yokoo, Takashi; Hosoya, Tatsuo; Inoue, Ituro; Takahashi, Atsushi; Kubo, Michiaki; Ooyama, Hiroshi; Shimizu, Toru; Ichida, Kimiyoshi; Shinomiya, Nariyoshi; Merriman, Tony R; Matsuo, Hirotaka

    2017-05-01

    A genome-wide association study (GWAS) of gout and its subtypes was performed to identify novel gout loci, including those that are subtype-specific. Putative causal association signals from a GWAS of 945 clinically defined gout cases and 1213 controls from Japanese males were replicated with 1396 cases and 1268 controls using a custom chip of 1961 single nucleotide polymorphisms (SNPs). We also first conducted GWASs of gout subtypes. Replication with Caucasian and New Zealand Polynesian samples was done to further validate the loci identified in this study. In addition to the five loci we reported previously, further susceptibility loci were identified at a genome-wide significance level (pgout cases, and NIPAL1 and FAM35A for the renal underexcretion gout subtype. While NIPAL1 encodes a magnesium transporter, functional analysis did not detect urate transport via NIPAL1, suggesting an indirect association with urate handling. Localisation analysis in the human kidney revealed expression of NIPAL1 and FAM35A mainly in the distal tubules, which suggests the involvement of the distal nephron in urate handling in humans. Clinically ascertained male patients with gout and controls of Caucasian and Polynesian ancestries were also genotyped, and FAM35A was associated with gout in all cases. A meta-analysis of the three populations revealed FAM35A to be associated with gout at a genome-wide level of significance (p meta =3.58×10-8). Our findings including novel gout risk loci provide further understanding of the molecular pathogenesis of gout and lead to a novel concept for the therapeutic target of gout/hyperuricaemia. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

  1. GWAS of clinically defined gout and subtypes identifies multiple susceptibility loci that include urate transporter genes

    Science.gov (United States)

    Nakayama, Akiyoshi; Nakaoka, Hirofumi; Yamamoto, Ken; Sakiyama, Masayuki; Shaukat, Amara; Toyoda, Yu; Okada, Yukinori; Kamatani, Yoichiro; Nakamura, Takahiro; Takada, Tappei; Inoue, Katsuhisa; Yasujima, Tomoya; Yuasa, Hiroaki; Shirahama, Yuko; Nakashima, Hiroshi; Shimizu, Seiko; Higashino, Toshihide; Kawamura, Yusuke; Ogata, Hiraku; Kawaguchi, Makoto; Ohkawa, Yasuyuki; Danjoh, Inaho; Tokumasu, Atsumi; Ooyama, Keiko; Ito, Toshimitsu; Kondo, Takaaki; Wakai, Kenji; Stiburkova, Blanka; Pavelka, Karel; Stamp, Lisa K; Dalbeth, Nicola; Sakurai, Yutaka; Suzuki, Hiroshi; Hosoyamada, Makoto; Fujimori, Shin; Yokoo, Takashi; Hosoya, Tatsuo; Inoue, Ituro; Takahashi, Atsushi; Kubo, Michiaki; Ooyama, Hiroshi; Shimizu, Toru; Ichida, Kimiyoshi; Shinomiya, Nariyoshi; Merriman, Tony R; Matsuo, Hirotaka

    2017-01-01

    Objective A genome-wide association study (GWAS) of gout and its subtypes was performed to identify novel gout loci, including those that are subtype-specific. Methods Putative causal association signals from a GWAS of 945 clinically defined gout cases and 1213 controls from Japanese males were replicated with 1396 cases and 1268 controls using a custom chip of 1961 single nucleotide polymorphisms (SNPs). We also first conducted GWASs of gout subtypes. Replication with Caucasian and New Zealand Polynesian samples was done to further validate the loci identified in this study. Results In addition to the five loci we reported previously, further susceptibility loci were identified at a genome-wide significance level (pgout cases, and NIPAL1 and FAM35A for the renal underexcretion gout subtype. While NIPAL1 encodes a magnesium transporter, functional analysis did not detect urate transport via NIPAL1, suggesting an indirect association with urate handling. Localisation analysis in the human kidney revealed expression of NIPAL1 and FAM35A mainly in the distal tubules, which suggests the involvement of the distal nephron in urate handling in humans. Clinically ascertained male patients with gout and controls of Caucasian and Polynesian ancestries were also genotyped, and FAM35A was associated with gout in all cases. A meta-analysis of the three populations revealed FAM35A to be associated with gout at a genome-wide level of significance (pmeta=3.58×10−8). Conclusions Our findings including novel gout risk loci provide further understanding of the molecular pathogenesis of gout and lead to a novel concept for the therapeutic target of gout/hyperuricaemia. PMID:27899376

  2. Common variants in DRD2 are associated with sleep duration: the CARe consortium.

    Science.gov (United States)

    Cade, Brian E; Gottlieb, Daniel J; Lauderdale, Diane S; Bennett, David A; Buchman, Aron S; Buxbaum, Sarah G; De Jager, Philip L; Evans, Daniel S; Fülöp, Tibor; Gharib, Sina A; Johnson, W Craig; Kim, Hyun; Larkin, Emma K; Lee, Seung Ku; Lim, Andrew S; Punjabi, Naresh M; Shin, Chol; Stone, Katie L; Tranah, Gregory J; Weng, Jia; Yaffe, Kristine; Zee, Phyllis C; Patel, Sanjay R; Zhu, Xiaofeng; Redline, Susan; Saxena, Richa

    2016-01-01

    Sleep duration is implicated in the etiologies of chronic diseases and premature mortality. However, the genetic basis for sleep duration is poorly defined. We sought to identify novel genetic components influencing sleep duration in a multi-ethnic sample. Meta-analyses were conducted of genetic associations with self-reported, habitual sleep duration from seven Candidate Gene Association Resource (CARe) cohorts of over 25 000 individuals of African, Asian, European and Hispanic American ancestry. All individuals were genotyped for ∼50 000 SNPs from 2000 candidate heart, lung, blood and sleep genes. African-Americans had additional genome-wide genotypes. Four cohorts provided replication. A SNP (rs17601612) in the dopamine D2 receptor gene (DRD2) was significantly associated with sleep duration (P = 9.8 × 10(-7)). Conditional analysis identified a second DRD2 signal with opposite effects on sleep duration. In exploratory analysis, suggestive association was observed for rs17601612 with polysomnographically determined sleep latency (P = 0.002). The lead DRD2 signal was recently identified in a schizophrenia GWAS, and a genetic risk score of 11 additional schizophrenia GWAS loci genotyped on the IBC array was also associated with longer sleep duration (P = 0.03). These findings support a role for DRD2 in influencing sleep duration. Our work motivates future pharmocogenetics research on alerting agents such as caffeine and modafinil that interact with the dopaminergic pathway and further investigation of genetic overlap between sleep and neuro-psychiatric traits. © The Author 2015. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  3. [Rheumatic fibromyalgia: psychiatric features].

    Science.gov (United States)

    Sarró Alvarez, S

    2002-01-01

    Rheumatic fibromyalgia, also known as fibrositis or myofascial pain, is a common syndrome whose diagnoses, founded mainly on physical examination, usually delays due to symptom unspecificity, amount of complementary tests requested and intercourse with psychiatric disorders. Psychyatrists and psychologists get often involved in fibromyalgia treatment. Its proper knowledge prevents not only physicians and patients' psychological discourage but also development of depression and mental health expenses, as well as allows designing a treatment plan according to the main symptoms which may offer improvement chances to fibromyalgia patients. This article intends to offer an up-to-date and complete information about this entity, focused on psychiatric aspects, to better identify and manage such a puzzling disease.

  4. Revisiting QTL Affecting Clinical Mastitis by High-Density GWAS and Resequencing in the Finnish Ayrshire Dairy Cattle

    DEFF Research Database (Denmark)

    Vilkki, Johanna; Iso-Touru, Terhi; Schulman, Nina F

    -genotyped with the BovineHD chip, and the remaining bulls imputed to high density genotypes using Beagle software. GWAS was repeated with the imputed HD-data with GRAMMAS (GenABEL in R). Thereby 17 peaks on 12 chromosomes were identified. Eight high priority peaks were defined based on both 50K and imputed HD results...

  5. Integrated Comparison of GWAS, Transcriptome, and Proteomics Studies Highlights Similarities in the Biological Basis of Animal and Human Myopia.

    Science.gov (United States)

    Riddell, Nina; Crewther, Sheila G

    2017-01-01

    To identify commonalities between the genes in close proximity to genome-wide association study (GWAS) refractive error and axial length loci, and the genes and proteins differentially expressed in animal models of optically induced refractive error. The GWAS catalog was searched for loci significantly (P ≤ 5*10-8) associated with refractive error or axial length. PubMed was searched for exploratory animal transcriptome and proteomics studies of optically induced refractive error. A total of 15 GWAS, 7 transcriptome, and 9 proteomics studies met inclusion criteria. Ensembl's BioMart was used to identify human orthologs for the differentially expressed genes and proteins from animal studies. These orthologs were then compared to the protein-coding genes within 1 megabase (Mb), 500 kilobases (kb), and 250 kb of human GWAS loci by using the GeneOverlap R package, and Benjamini-Hochberg-adjusted P values and odds ratios (ORs) were calculated for each intersection. The genes near human GWAS loci overlapped significantly with the genes downregulated during early myopia induction in animals (1Mb: OR = 1.56, P = 0.025; 500 kb: OR = 1.92, P = 0.010; 250 kb: OR = 2.33, P = 0.010). There was also significant overlap between the genes and proteins differentially expressed in late myopia (OR = 4.12, P = 0.018). When animal study results were segregated by methodologic parameters, GWAS candidate genes overlapped significantly with the genes differentially expressed at early (OR = 1.50, P = 0.010) but not late (OR = 1.04, P = 0.684) induction time-points. Gene and protein expression responses also appeared well conserved across model species, and there was no evidence of greater GWAS-transcriptome concordance in similar species to humans (e.g., primates or mammals). These findings suggest that genetic and environmental factors control ocular growth via similar biological pathways across species, and support the continued use of animal models for investigating the biological

  6. Culture and psychiatric diagnosis.

    Science.gov (United States)

    Lewis-Fernández, Roberto; Aggarwal, Neil Krishan

    2013-01-01

    Since the publication of DSM-IV in 1994, neurobiologists and anthropologists have criticized the rigidity of its diagnostic criteria that appear to exclude whole classes of alternate illness presentations, as well as the lack of attention in contemporary psychiatric nosology to the role of contextual factors in the emergence and characteristics of psychopathology. Experts in culture and mental health have responded to these criticisms by revising the very process of diagnosis for DSM-5. Specifically, the DSM-5 Cultural Issues Subgroup has recommended that concepts of culture be included more prominently in several areas: an introductory chapter on Cultural Aspects of Psychiatric Diagnosis - composed of a conceptual introduction, a revised Outline for Cultural Formulation, a Cultural Formulation Interview that operationalizes this Outline, and a glossary on cultural concepts of distress - as well as material directly related to culture that is incorporated into the description of each disorder. This chapter surveys these recommendations to demonstrate how culture and context interact with psychiatric diagnosis at multiple levels. A greater appreciation of the interplay between culture, context, and biology can help clinicians improve diagnostic and treatment planning. Copyright © 2013 APA*

  7. Discovery and fine-mapping of adiposity loci using high density imputation of genome-wide association studies in individuals of African ancestry: African Ancestry Anthropometry Genetics Consortium

    Science.gov (United States)

    Lu, Yingchang; Justice, Anne E.; Mudgal, Poorva; Liu, Ching-Ti; Young, Kristin; Feitosa, Mary F.; Rand, Kristin; Dimitrov, Latchezar; Duan, Qing; Guo, Xiuqing; Lange, Leslie A.; Nalls, Michael A.; Okut, Hayrettin; Tayo, Bamidele O.; Vedantam, Sailaja; Bradfield, Jonathan P.; Chen, Guanjie; Chesi, Alessandra; Irvin, Marguerite R.; Padhukasahasram, Badri; Zheng, Wei; Allison, Matthew A.; Ambrosone, Christine B.; Bandera, Elisa V.; Berndt, Sonja I.; Blot, William J.; Bottinger, Erwin P.; Carpten, John; Chanock, Stephen J.; Chen, Yii-Der Ida; Conti, David V.; Cooper, Richard S.; Fornage, Myriam; Freedman, Barry I.; Garcia, Melissa; Goodman, Phyllis J.; Hsu, Yu-Han H.; Hu, Jennifer; Huff, Chad D.; Ingles, Sue A.; John, Esther M.; Kittles, Rick; Klein, Eric; Li, Jin; McKnight, Barbara; Nayak, Uma; Nemesure, Barbara; Olshan, Andrew; Salako, Babatunde; Sanderson, Maureen; Shao, Yaming; Siscovick, David S.; Stanford, Janet L.; Strom, Sara S.; Witte, John S.; Yao, Jie; Zhu, Xiaofeng; Ziegler, Regina G.; Zonderman, Alan B.; Ambs, Stefan; Cushman, Mary; Faul, Jessica D.; Hakonarson, Hakon; Levin, Albert M.; Nathanson, Katherine L.; Weir, David R.; Zhi, Degui; Arnett, Donna K.; Kardia, Sharon L. R.; Oloapde, Olufunmilayo I.; Rao, D. C.; Williams, L. Keoki; Becker, Diane M.; Borecki, Ingrid B.; Evans, Michele K.; Harris, Tamara B.; Hirschhorn, Joel N.; Psaty, Bruce M.; Wilson, James G.; Bowden, Donald W.; Cupples, L. Adrienne; Haiman, Christopher A.; Loos, Ruth J. F.; North, Kari E.

    2017-01-01

    Genome-wide association studies (GWAS) have identified >300 loci associated with measures of adiposity including body mass index (BMI) and waist-to-hip ratio (adjusted for BMI, WHRadjBMI), but few have been identified through screening of the African ancestry genomes. We performed large scale meta-analyses and replications in up to 52,895 individuals for BMI and up to 23,095 individuals for WHRadjBMI from the African Ancestry Anthropometry Genetics Consortium (AAAGC) using 1000 Genomes phase 1 imputed GWAS to improve coverage of both common and low frequency variants in the low linkage disequilibrium African ancestry genomes. In the sex-combined analyses, we identified one novel locus (TCF7L2/HABP2) for WHRadjBMI and eight previously established loci at P < 5×10−8: seven for BMI, and one for WHRadjBMI in African ancestry individuals. An additional novel locus (SPRYD7/DLEU2) was identified for WHRadjBMI when combined with European GWAS. In the sex-stratified analyses, we identified three novel loci for BMI (INTS10/LPL and MLC1 in men, IRX4/IRX2 in women) and four for WHRadjBMI (SSX2IP, CASC8, PDE3B and ZDHHC1/HSD11B2 in women) in individuals of African ancestry or both African and European ancestry. For four of the novel variants, the minor allele frequency was low (<5%). In the trans-ethnic fine mapping of 47 BMI loci and 27 WHRadjBMI loci that were locus-wide significant (P < 0.05 adjusted for effective number of variants per locus) from the African ancestry sex-combined and sex-stratified analyses, 26 BMI loci and 17 WHRadjBMI loci contained ≤ 20 variants in the credible sets that jointly account for 99% posterior probability of driving the associations. The lead variants in 13 of these loci had a high probability of being causal. As compared to our previous HapMap imputed GWAS for BMI and WHRadjBMI including up to 71,412 and 27,350 African ancestry individuals, respectively, our results suggest that 1000 Genomes imputation showed modest improvement in

  8. Discovery and fine-mapping of adiposity loci using high density imputation of genome-wide association studies in individuals of African ancestry: African Ancestry Anthropometry Genetics Consortium.

    Science.gov (United States)

    Ng, Maggie C Y; Graff, Mariaelisa; Lu, Yingchang; Justice, Anne E; Mudgal, Poorva; Liu, Ching-Ti; Young, Kristin; Yanek, Lisa R; Feitosa, Mary F; Wojczynski, Mary K; Rand, Kristin; Brody, Jennifer A; Cade, Brian E; Dimitrov, Latchezar; Duan, Qing; Guo, Xiuqing; Lange, Leslie A; Nalls, Michael A; Okut, Hayrettin; Tajuddin, Salman M; Tayo, Bamidele O; Vedantam, Sailaja; Bradfield, Jonathan P; Chen, Guanjie; Chen, Wei-Min; Chesi, Alessandra; Irvin, Marguerite R; Padhukasahasram, Badri; Smith, Jennifer A; Zheng, Wei; Allison, Matthew A; Ambrosone, Christine B; Bandera, Elisa V; Bartz, Traci M; Berndt, Sonja I; Bernstein, Leslie; Blot, William J; Bottinger, Erwin P; Carpten, John; Chanock, Stephen J; Chen, Yii-Der Ida; Conti, David V; Cooper, Richard S; Fornage, Myriam; Freedman, Barry I; Garcia, Melissa; Goodman, Phyllis J; Hsu, Yu-Han H; Hu, Jennifer; Huff, Chad D; Ingles, Sue A; John, Esther M; Kittles, Rick; Klein, Eric; Li, Jin; McKnight, Barbara; Nayak, Uma; Nemesure, Barbara; Ogunniyi, Adesola; Olshan, Andrew; Press, Michael F; Rohde, Rebecca; Rybicki, Benjamin A; Salako, Babatunde; Sanderson, Maureen; Shao, Yaming; Siscovick, David S; Stanford, Janet L; Stevens, Victoria L; Stram, Alex; Strom, Sara S; Vaidya, Dhananjay; Witte, John S; Yao, Jie; Zhu, Xiaofeng; Ziegler, Regina G; Zonderman, Alan B; Adeyemo, Adebowale; Ambs, Stefan; Cushman, Mary; Faul, Jessica D; Hakonarson, Hakon; Levin, Albert M; Nathanson, Katherine L; Ware, Erin B; Weir, David R; Zhao, Wei; Zhi, Degui; Arnett, Donna K; Grant, Struan F A; Kardia, Sharon L R; Oloapde, Olufunmilayo I; Rao, D C; Rotimi, Charles N; Sale, Michele M; Williams, L Keoki; Zemel, Babette S; Becker, Diane M; Borecki, Ingrid B; Evans, Michele K; Harris, Tamara B; Hirschhorn, Joel N; Li, Yun; Patel, Sanjay R; Psaty, Bruce M; Rotter, Jerome I; Wilson, James G; Bowden, Donald W; Cupples, L Adrienne; Haiman, Christopher A; Loos, Ruth J F; North, Kari E

    2017-04-01

    Genome-wide association studies (GWAS) have identified >300 loci associated with measures of adiposity including body mass index (BMI) and waist-to-hip ratio (adjusted for BMI, WHRadjBMI), but few have been identified through screening of the African ancestry genomes. We performed large scale meta-analyses and replications in up to 52,895 individuals for BMI and up to 23,095 individuals for WHRadjBMI from the African Ancestry Anthropometry Genetics Consortium (AAAGC) using 1000 Genomes phase 1 imputed GWAS to improve coverage of both common and low frequency variants in the low linkage disequilibrium African ancestry genomes. In the sex-combined analyses, we identified one novel locus (TCF7L2/HABP2) for WHRadjBMI and eight previously established loci at P ancestry individuals. An additional novel locus (SPRYD7/DLEU2) was identified for WHRadjBMI when combined with European GWAS. In the sex-stratified analyses, we identified three novel loci for BMI (INTS10/LPL and MLC1 in men, IRX4/IRX2 in women) and four for WHRadjBMI (SSX2IP, CASC8, PDE3B and ZDHHC1/HSD11B2 in women) in individuals of African ancestry or both African and European ancestry. For four of the novel variants, the minor allele frequency was low (ancestry sex-combined and sex-stratified analyses, 26 BMI loci and 17 WHRadjBMI loci contained ≤ 20 variants in the credible sets that jointly account for 99% posterior probability of driving the associations. The lead variants in 13 of these loci had a high probability of being causal. As compared to our previous HapMap imputed GWAS for BMI and WHRadjBMI including up to 71,412 and 27,350 African ancestry individuals, respectively, our results suggest that 1000 Genomes imputation showed modest improvement in identifying GWAS loci including low frequency variants. Trans-ethnic meta-analyses further improved fine mapping of putative causal variants in loci shared between the African and European ancestry populations.

  9. Discovery and fine-mapping of adiposity loci using high density imputation of genome-wide association studies in individuals of African ancestry: African Ancestry Anthropometry Genetics Consortium.

    Directory of Open Access Journals (Sweden)

    Maggie C Y Ng

    2017-04-01

    Full Text Available Genome-wide association studies (GWAS have identified >300 loci associated with measures of adiposity including body mass index (BMI and waist-to-hip ratio (adjusted for BMI, WHRadjBMI, but few have been identified through screening of the African ancestry genomes. We performed large scale meta-analyses and replications in up to 52,895 individuals for BMI and up to 23,095 individuals for WHRadjBMI from the African Ancestry Anthropometry Genetics Consortium (AAAGC using 1000 Genomes phase 1 imputed GWAS to improve coverage of both common and low frequency variants in the low linkage disequilibrium African ancestry genomes. In the sex-combined analyses, we identified one novel locus (TCF7L2/HABP2 for WHRadjBMI and eight previously established loci at P < 5×10-8: seven for BMI, and one for WHRadjBMI in African ancestry individuals. An additional novel locus (SPRYD7/DLEU2 was identified for WHRadjBMI when combined with European GWAS. In the sex-stratified analyses, we identified three novel loci for BMI (INTS10/LPL and MLC1 in men, IRX4/IRX2 in women and four for WHRadjBMI (SSX2IP, CASC8, PDE3B and ZDHHC1/HSD11B2 in women in individuals of African ancestry or both African and European ancestry. For four of the novel variants, the minor allele frequency was low (<5%. In the trans-ethnic fine mapping of 47 BMI loci and 27 WHRadjBMI loci that were locus-wide significant (P < 0.05 adjusted for effective number of variants per locus from the African ancestry sex-combined and sex-stratified analyses, 26 BMI loci and 17 WHRadjBMI loci contained ≤ 20 variants in the credible sets that jointly account for 99% posterior probability of driving the associations. The lead variants in 13 of these loci had a high probability of being causal. As compared to our previous HapMap imputed GWAS for BMI and WHRadjBMI including up to 71,412 and 27,350 African ancestry individuals, respectively, our results suggest that 1000 Genomes imputation showed modest improvement

  10. AprioriGWAS, a new pattern mining strategy for detecting genetic variants associated with disease through interaction effects.

    Directory of Open Access Journals (Sweden)

    Qingrun Zhang

    2014-06-01

    Full Text Available Identifying gene-gene interaction is a hot topic in genome wide association studies. Two fundamental challenges are: (1 how to smartly identify combinations of variants that may be associated with the trait from astronomical number of all possible combinations; and (2 how to test epistatic interaction when all potential combinations are available. We developed AprioriGWAS, which brings two innovations. (1 Based on Apriori, a successful method in field of Frequent Itemset Mining (FIM in which a pattern growth strategy is leveraged to effectively and accurately reduce search space, AprioriGWAS can efficiently identify genetically associated genotype patterns. (2 To test the hypotheses of epistasis, we adopt a new conditional permutation procedure to obtain reliable statistical inference of Pearson's chi-square test for the [Formula: see text] contingency table generated by associated variants. By applying AprioriGWAS to age-related macular degeneration (AMD data, we found that: (1 angiopoietin 1 (ANGPT1 and four retinal genes interact with Complement Factor H (CFH. (2 GO term "glycosaminoglycan biosynthetic process" was enriched in AMD interacting genes. The epistatic interactions newly found by AprioriGWAS on AMD data are likely true interactions, since genes interacting with CFH are retinal genes, and GO term enrichment also verified that interaction between glycosaminoglycans (GAGs and CFH plays an important role in disease pathology of AMD. By applying AprioriGWAS on Bipolar disorder in WTCCC data, we found variants without marginal effect show significant interactions. For example, multiple-SNP genotype patterns inside gene GABRB2 and GRIA1 (AMPA subunit 1 receptor gene. AMPARs are found in many parts of the brain and are the most commonly found receptor in the nervous system. The GABRB2 mediates the fastest inhibitory synaptic transmission in the central nervous system. GRIA1 and GABRB2 are relevant to mental disorders supported by multiple

  11. AprioriGWAS, a new pattern mining strategy for detecting genetic variants associated with disease through interaction effects.

    Science.gov (United States)

    Zhang, Qingrun; Long, Quan; Ott, Jurg

    2014-06-01

    Identifying gene-gene interaction is a hot topic in genome wide association studies. Two fundamental challenges are: (1) how to smartly identify combinations of variants that may be associated with the trait from astronomical number of all possible combinations; and (2) how to test epistatic interaction when all potential combinations are available. We developed AprioriGWAS, which brings two innovations. (1) Based on Apriori, a successful method in field of Frequent Itemset Mining (FIM) in which a pattern growth strategy is leveraged to effectively and accurately reduce search space, AprioriGWAS can efficiently identify genetically associated genotype patterns. (2) To test the hypotheses of epistasis, we adopt a new conditional permutation procedure to obtain reliable statistical inference of Pearson's chi-square test for the [Formula: see text] contingency table generated by associated variants. By applying AprioriGWAS to age-related macular degeneration (AMD) data, we found that: (1) angiopoietin 1 (ANGPT1) and four retinal genes interact with Complement Factor H (CFH). (2) GO term "glycosaminoglycan biosynthetic process" was enriched in AMD interacting genes. The epistatic interactions newly found by AprioriGWAS on AMD data are likely true interactions, since genes interacting with CFH are retinal genes, and GO term enrichment also verified that interaction between glycosaminoglycans (GAGs) and CFH plays an important role in disease pathology of AMD. By applying AprioriGWAS on Bipolar disorder in WTCCC data, we found variants without marginal effect show significant interactions. For example, multiple-SNP genotype patterns inside gene GABRB2 and GRIA1 (AMPA subunit 1 receptor gene). AMPARs are found in many parts of the brain and are the most commonly found receptor in the nervous system. The GABRB2 mediates the fastest inhibitory synaptic transmission in the central nervous system. GRIA1 and GABRB2 are relevant to mental disorders supported by multiple

  12. [Forensic psychiatric patients in Denmark].

    Science.gov (United States)

    Larsen, Tina Gram; Valbak, Lone; Perto, Gurli; Reinert, Kjeld

    2006-06-05

    In Denmark the number of forensic psychiatric patients is increasing. The objective of this study was to explore whether the increased number of forensic psychiatric patients has been reflected in the use of psychiatric inpatient facilities. Furthermore, we wanted to investigate differences in the treatment of various diagnostic groups of forensic patients and of forensic and non-forensic patients with schizophrenia. Information about admissions and outpatient contact was extracted from the Danish Psychiatric Central Research Register for all Danish patients sentenced to psychiatric treatment in the period 1994-2003. Furthermore, a group of first-admission forensic patients suffering from schizophrenia was compared to a control group of first-admission non-forensic patients with schizophrenia, matched for sex, age and time of admission. The number of forensic psychiatric patients increased markedly in the period 1994-2003; at the same time, the use of inpatient facilities for this group of patients did not increase to a similar degree but actually decreased. Forensic patients in the group F20-F29 spent more time in hospital than did forensic patients with affective disorders and personality disorders. Forensic psychiatric patients with schizophrenia had significantly longer periods of hospitalization than did non-forensic patients with schizophrenia. Forensic psychiatric patients' use of psychiatric inpatient facilities during the last 10 years did not increase to the extent expected relative to the increasing number of forensic psychiatric patients. This raises the question of whether these patients are receiving necessary and sufficient treatment.

  13. The COPD Biomarker Qualification Consortium (CBQC)

    DEFF Research Database (Denmark)

    Casaburi, Richard; Celli, Bartolome; Crapo, James

    2013-01-01

    Abstract Knowledge about the pathogenesis and pathophysiology of chronic obstructive pulmonary disease (COPD) has advanced dramatically over the last 30 years. Unfortunately, this has had little impact in terms of new treatments. Over the same time frame, only one new class of medication for COPD......, and no interested party has been in a position to undertake such a process. In order to facilitate the development of novel tools to assess new treatments, the Food and Drug Administration, in collaboration with the COPD Foundation, the National Heart Lung and Blood Institute and scientists from the pharmaceutical...... industry and academia conducted a workshop to survey the available information that could contribute to new tools. Based on this, a collaborative project, the COPD Biomarkers Qualification Consortium, was initiated. The Consortium in now actively preparing integrated data sets from existing resources...

  14. Midwest Nuclear Science and Engineering Consortium

    Energy Technology Data Exchange (ETDEWEB)

    Dr. Wynn Volkert; Dr. Arvind Kumar; Dr. Bryan Becker; Dr. Victor Schwinke; Dr. Angel Gonzalez; Dr. DOuglas McGregor

    2010-12-08

    The objective of the Midwest Nuclear Science and Engineering Consortium (MNSEC) is to enhance the scope, quality and integration of educational and research capabilities of nuclear sciences and engineering (NS/E) programs at partner schools in support of the U.S. nuclear industry (including DOE laboratories). With INIE support, MNSEC had a productive seven years and made impressive progress in achieving these goals. Since the past three years have been no-cost-extension periods, limited -- but notable -- progress has been made in FY10. Existing programs continue to be strengthened and broadened at Consortium partner institutions. The enthusiasm generated by the academic, state, federal, and industrial communities for the MNSEC activities is reflected in the significant leveraging that has occurred for our programs.

  15. Overview of the Inland California Translational Consortium

    Science.gov (United States)

    Malkas, Linda H.

    2017-05-01

    The mission of the Inland California Translational Consortium (ICTC), an independent research consortium comprising a unique hub of regional institutions (City of Hope [COH], California Institute of Technology [Caltech], Jet Propulsion Laboratory [JPL], University of California Riverside [UCR], and Claremont Colleges Keck Graduate Institute [KGI], is to institute a new paradigm within the academic culture to accelerate translation of innovative biomedical discoveries into clinical applications that positively affect human health and life. The ICTC actively supports clinical translational research as well as the implementation and advancement of novel education and training models for the translation of basic discoveries into workable products and practices that preserve and improve human health while training and educating at all levels of the workforce using innovative forward-thinking approaches.

  16. Consortium for Verification Technology Fellowship Report.

    Energy Technology Data Exchange (ETDEWEB)

    Sadler, Lorraine E. [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States)

    2017-06-01

    As one recipient of the Consortium for Verification Technology (CVT) Fellowship, I spent eight days as a visiting scientist at the University of Michigan, Department of Nuclear Engineering and Radiological Sciences (NERS). During this time, I participated in multiple department and research group meetings and presentations, met with individual faculty and students, toured multiple laboratories, and taught one-half of a one-unit class on Risk Analysis in Nuclear Arms control (six 1.5 hour lectures). The following report describes some of the interactions that I had during my time as well as a brief discussion of the impact of this fellowship on members of the consortium and on me/my laboratory’s technical knowledge and network.

  17. Preprocessed Consortium for Neuropsychiatric Phenomics dataset.

    Science.gov (United States)

    Gorgolewski, Krzysztof J; Durnez, Joke; Poldrack, Russell A

    2017-01-01

    Here we present preprocessed MRI data of 265 participants from the Consortium for Neuropsychiatric Phenomics (CNP) dataset. The preprocessed dataset includes minimally preprocessed data in the native, MNI and surface spaces accompanied with potential confound regressors, tissue probability masks, brain masks and transformations. In addition the preprocessed dataset includes unthresholded group level and single subject statistical maps from all tasks included in the original dataset. We hope that availability of this dataset will greatly accelerate research.

  18. Mission Connect Mild TBI Translational Research Consortium

    Science.gov (United States)

    2010-08-31

    Mizrahi , MD – PI D. Frost, MD D. Friedman, MD R. Hrachovy, M.D J. Slater, MD Project Summary Introduction: This report outlines the participation...of Eli M. Mizrahi , M.D. and his colleagues in the Mission Connect Mild Traumatic Brain Injury (MTBI) Translational Research Consortium during the...time period of August 1, 2009 through July 31, 2010. Dr. Mizrahi is the principal investigator (P.I.) for the Neurophysiology Core which supports the

  19. Midwest superconductivity consortium. 1993 Progress report

    Energy Technology Data Exchange (ETDEWEB)

    1994-01-01

    The Midwest Superconductivity Consortium, MISCON, in the fourth year of operations further strengthened its mission to advance the science and understanding of high T{sub c} superconductivity. The goals of the organization and the individual projects continue to reflect the current needs for new knowledge in the field and the unique capabilities of the institutions involved. Group efforts and cooperative laboratory interactions to achieve the greatest possible synergy under the Consortium continue to be emphasized. Industrial affiliations coupled with technology transfer initiatives were expanded. Activities of the participants during the past year achieved an interactive and high level of performance. The number of notable achievements in the field contributed by Consortium investigators increased. The programmatic research continues to focus upon key materials-related problems in two areas. The first area has a focus upon {open_quotes}Synthesis and Processing{close_quotes} while the second is centered around {open_quotes}Limiting Features in Transport Properties of High T{sub c} Materials{close_quotes}.

  20. Removal of Triphenylmethane Dyes by Bacterial Consortium

    Directory of Open Access Journals (Sweden)

    Jihane Cheriaa

    2012-01-01

    Full Text Available A new consortium of four bacterial isolates (Agrobacterium radiobacter; Bacillus spp.; Sphingomonas paucimobilis, and Aeromonas hydrophila-(CM-4 was used to degrade and to decolorize triphenylmethane dyes. All bacteria were isolated from activated sludge extracted from a wastewater treatment station of a dyeing industry plant. Individual bacterial isolates exhibited a remarkable color-removal capability against crystal violet (50 mg/L and malachite green (50 mg/L dyes within 24 h. Interestingly, the microbial consortium CM-4 shows a high decolorizing percentage for crystal violet and malachite green, respectively, 91% and 99% within 2 h. The rate of chemical oxygen demand (COD removal increases after 24 h, reaching 61.5% and 84.2% for crystal violet and malachite green, respectively. UV-Visible absorption spectra, FTIR analysis and the inspection of bacterial cells growth indicated that color removal by the CM-4 was due to biodegradation. Evaluation of mutagenicity by using Salmonella typhimurium test strains, TA98 and TA100 studies revealed that the degradation of crystal violet and malachite green by CM-4 did not lead to mutagenic products. Altogether, these results demonstrated the usefulness of the bacterial consortium in the treatment of the textile dyes.

  1. Removal of Triphenylmethane Dyes by Bacterial Consortium

    Science.gov (United States)

    Cheriaa, Jihane; Khaireddine, Monia; Rouabhia, Mahmoud; Bakhrouf, Amina

    2012-01-01

    A new consortium of four bacterial isolates (Agrobacterium radiobacter; Bacillus spp.; Sphingomonas paucimobilis, and Aeromonas hydrophila)-(CM-4) was used to degrade and to decolorize triphenylmethane dyes. All bacteria were isolated from activated sludge extracted from a wastewater treatment station of a dyeing industry plant. Individual bacterial isolates exhibited a remarkable color-removal capability against crystal violet (50 mg/L) and malachite green (50 mg/L) dyes within 24 h. Interestingly, the microbial consortium CM-4 shows a high decolorizing percentage for crystal violet and malachite green, respectively, 91% and 99% within 2 h. The rate of chemical oxygen demand (COD) removal increases after 24 h, reaching 61.5% and 84.2% for crystal violet and malachite green, respectively. UV-Visible absorption spectra, FTIR analysis and the inspection of bacterial cells growth indicated that color removal by the CM-4 was due to biodegradation. Evaluation of mutagenicity by using Salmonella typhimurium test strains, TA98 and TA100 studies revealed that the degradation of crystal violet and malachite green by CM-4 did not lead to mutagenic products. Altogether, these results demonstrated the usefulness of the bacterial consortium in the treatment of the textile dyes. PMID:22623907

  2. [Psychiatric complications of abortion].

    Science.gov (United States)

    Gurpegui, Manuel; Jurado, Dolores

    2009-01-01

    The psychiatric consequences of induced abortion continue to be the object of controversy. The reactions of women when they became aware of conception are very variable. Pregnancy, whether initially intended or unintended, may provoke stress; and miscarriage may bring about feelings of loss and grief reaction. Therefore, induced abortion, with its emotional implications (of relief, shame and guilt) not surprisingly is a stressful adverse life event. METHODOLOGICAL CONSIDERATIONS: There is agreement among researchers on the need to compare the mental health outcomes (or the psychiatric complications) with appropriate groups, including women with unintended pregnancies ending in live births and women with miscarriages. There is also agreement on the need to control for the potential confounding effects of multiple variables: demographic, contextual, personal development, previous or current traumatic experiences, and mental health prior to the obstetric event. Any psychiatric outcome is multi-factorial in origin and the impact of life events depend on how they are perceived, the psychological defence mechanisms (unconscious to a great extent) and the coping style. The fact of voluntarily aborting has an undeniable ethical dimension in which facts and values are interwoven. No research study has found that induced abortion is associated with a better mental health outcome, although the results of some studies are interpreted as or Some general population studies point out significant associations with alcohol or illegal drug dependence, mood disorders (including depression) and some anxiety disorders. Some of these associations have been confirmed, and nuanced, by longitudinal prospective studies which support causal relationships. With the available data, it is advisable to devote efforts to the mental health care of women who have had an induced abortion. Reasons of the woman's mental health by no means can be invoked, on empirical bases, for inducing an abortion.

  3. Lamotrigine in psychiatric disorders.

    Science.gov (United States)

    Reid, Jennifer G; Gitlin, Michael J; Altshuler, Lori L

    2013-07-01

    Owing to the prevalence of medication side effects and treatment resistance, prescribers often consider off-label uses of US Food and Drug Administration (FDA)-approved agents for the treatment of persistent symptoms. The authors review the available literature on the FDA-approved and non-FDA-approved uses of lamotrigine in adults with psychiatric disorders. We used PubMed, MEDLINE, and a hand search of relevant literature to find studies published between 1990 and 2012 and available in English language. The following keywords were searched: lamotrigine, psychiatric, mood disorders, depression, personality disorders, anxiety, schizophrenia, side effects, and rash. Data were selected from 29 randomized controlled trials (RCTs). When RCTs were not available, open-label trials (6), retrospective case reviews (10), and case series (4) were summarized. We extracted results of monotherapy and augmentation trials of lamotrigine on primary and secondary outcome measures. Lamotrigine is generally well tolerated, with the best evidence for the maintenance treatment of bipolar disorder, particularly in prevention of depressive episodes. In acute bipolar depression, meta-analyses suggested a modest benefit, especially for more severely depressed subjects, with switch rates similar to placebo. In unipolar depression, double-blind RCTs noted benefit on subsets of symptoms and improved response in more severely depressed subjects. Data are limited but promising in borderline personality disorder. Use of lamotrigine in schizophrenia and anxiety disorders has little supportive evidence. Lamotrigine is recommended in bipolar maintenance when depression is prominent. It also has a role in treating acute bipolar depression and unipolar depression, though the latter warrants more research. Data are too limited in other psychiatric disorders to recommend its use at this time. © Copyright 2013 Physicians Postgraduate Press, Inc.

  4. Parricide: Psychiatric morbidity

    Directory of Open Access Journals (Sweden)

    Dunjić Bojana

    2008-01-01

    Full Text Available INTRODUCTION Parricide is defined as a murder of parents by their children; the patricide is murder of father, while matricide is murder of mother. This entity is classified as homicide, but it differs in the fact that victims are parents and the killers are their children. Mostly, it is associated with psychiatric morbidity. OBJECTIVE To describe sociodemographic and psychopathological characteristics of parricide committers and to analyze circumstances of parricide and psychiatric morbidity in order to achieve better recognition and prevention of risks. METHOD This retrospective study included all homicide autopsy records (1991-2005 performed at the Institute of Forensic Medicine, Medical School, University of Belgrade. For further analyses, all parricide records were selected out. The study analyzed all available parameters, which concerned parricide committers, victims and the act itself. Methods of descriptive statistics were used. RESULTS Between 1991 and 2005, there were 948 cases of homicide; of these, 3.5% were parricides. The committers of parricide were on average 31.2±11.9 years old, 87.8% were males, 60.6% with psychiatric symptoms most commonly with schizophrenia, alcohol dependence, personality disorder etc. Victims were on average 63.7±11.9 years old, 54.5% males, and 21.2% had a diagnosed mental illness. CONCLUSION Parricide is a rare kind of homicide accounting for 3% of all homicides. Committers are mostly unemployed males in early adulthood who have mental disorder. The phenomenon of parricide deserves a detailed analysis of the committer (individual bio-psycho-social profile and the environ- mental factors (family, closely related circumstances to enable a precise prediction of the act and prevention of the fatal outcome, which logically imposes the need of further studies.

  5. Psychiatric aspects of dwarfism.

    Science.gov (United States)

    Brust, J S; Ford, C V; Rimoin, D L

    1976-02-01

    Sixteen adult dwarfs - 11 with achondroplasia and 5 with hypopituitarism - were studied by means of psychiatric interviews and psychological tests. There were no significant differences between the two groups; in general, the subjects had achieved a satisfactory life adjustment despite the stress of having bodies uniquely different from those of the general population. They had secure identities as "little people" and successfully used coping mechanisms such as a sense of humor and a pleasant interpersonal style. Male dwarfs tended to experience more emotional distress than female dwarfs.

  6. Cerebellum and psychiatric disorders.

    Science.gov (United States)

    Baldaçara, Leonardo; Borgio, João Guilherme Fiorani; Lacerda, Acioly Luiz Tavares de; Jackowski, Andrea Parolin

    2008-09-01

    The objective of this update article is to report structural and functional neuroimaging studies exploring the potential role of cerebellum in the pathophysiology of psychiatric disorders. A non-systematic literature review was conducted by means of Medline using the following terms as a parameter: "cerebellum", "cerebellar vermis", "schizophrenia", "bipolar disorder", "depression", "anxiety disorders", "dementia" and "attention deficit hyperactivity disorder". The electronic search was done up to April 2008. Structural and functional cerebellar abnormalities have been reported in many psychiatric disorders, namely schizophrenia, bipolar disorder, major depressive disorder, anxiety disorders, dementia and attention deficit hyperactivity disorder. Structural magnetic resonance imaging studies have reported smaller total cerebellar and vermal volumes in schizophrenia, mood disorders and attention deficit hyperactivity disorder. Functional magnetic resonance imaging studies using cognitive paradigms have shown alterations in cerebellar activity in schizophrenia, anxiety disorders and attention deficit hyperactivity disorder. In dementia, the cerebellum is affected in later stages of the disease. Contrasting with early theories, cerebellum appears to play a major role in different brain functions other than balance and motor control, including emotional regulation and cognition. Future studies are clearly needed to further elucidate the role of cerebellum in both normal and pathological behavior, mood regulation, and cognitive functioning.

  7. A genome-wide association study for venous thromboembolism: the extended cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium.

    Science.gov (United States)

    Tang, Weihong; Teichert, Martina; Chasman, Daniel I; Heit, John A; Morange, Pierre-Emmanuel; Li, Guo; Pankratz, Nathan; Leebeek, Frank W; Paré, Guillaume; de Andrade, Mariza; Tzourio, Christophe; Psaty, Bruce M; Basu, Saonli; Ruiter, Rikje; Rose, Lynda; Armasu, Sebastian M; Lumley, Thomas; Heckbert, Susan R; Uitterlinden, André G; Lathrop, Mark; Rice, Kenneth M; Cushman, Mary; Hofman, Albert; Lambert, Jean-Charles; Glazer, Nicole L; Pankow, James S; Witteman, Jacqueline C; Amouyel, Philippe; Bis, Joshua C; Bovill, Edwin G; Kong, Xiaoxiao; Tracy, Russell P; Boerwinkle, Eric; Rotter, Jerome I; Trégouët, David-Alexandre; Loth, Daan W; Stricker, Bruno H Ch; Ridker, Paul M; Folsom, Aaron R; Smith, Nicholas L

    2013-07-01

    Venous thromboembolism (VTE) is a common, heritable disease resulting in high rates of hospitalization and mortality. Yet few associations between VTE and genetic variants, all in the coagulation pathway, have been established. To identify additional genetic determinants of VTE, we conducted a two-stage genome-wide association study (GWAS) among individuals of European ancestry in the extended cohorts for heart and aging research in genomic epidemiology (CHARGE) VTE consortium. The discovery GWAS comprised 1,618 incident VTE cases out of 44,499 participants from six community-based studies. Genotypes for genome-wide single-nucleotide polymorphisms (SNPs) were imputed to approximately 2.5 million SNPs in HapMap and association with VTE assessed using study-design appropriate regression methods. Meta-analysis of these results identified two known loci, in F5 and ABO. Top 1,047 tag SNPs (P ≤ 0.0016) from the discovery GWAS were tested for association in an additional 3,231 cases and 3,536 controls from three case-control studies. In the combined data from these two stages, additional genome-wide significant associations were observed on 4q35 at F11 (top SNP rs4253399, intronic to F11) and on 4q28 at FGG (rs6536024, 9.7 kb from FGG; P FGG locus were not completely explained by previously reported variants. Loci at or near SUSD1 and OTUD7A showed borderline yet novel associations (P FGG loci for VTE. Future studies are warranted to better characterize the associations with F11 and FGG and to replicate the new candidate associations. © 2013 WILEY PERIODICALS, INC.

  8. Associations of NINJ2 sequence variants with incident ischemic stroke in the Cohorts for Heart and Aging in Genomic Epidemiology (CHARGE consortium.

    Directory of Open Access Journals (Sweden)

    Joshua C Bis

    Full Text Available Stroke, the leading neurologic cause of death and disability, has a substantial genetic component. We previously conducted a genome-wide association study (GWAS in four prospective studies from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE consortium and demonstrated that sequence variants near the NINJ2 gene are associated with incident ischemic stroke. Here, we sought to fine-map functional variants in the region and evaluate the contribution of rare variants to ischemic stroke risk.We sequenced 196 kb around NINJ2 on chromosome 12p13 among 3,986 European ancestry participants, including 475 ischemic stroke cases, from the Atherosclerosis Risk in Communities Study, Cardiovascular Health Study, and Framingham Heart Study. Meta-analyses of single-variant tests for 425 common variants (minor allele frequency [MAF] ≥ 1% confirmed the original GWAS results and identified an independent intronic variant, rs34166160 (MAF = 0.012, most significantly associated with incident ischemic stroke (HR = 1.80, p = 0.0003. Aggregating 278 putatively-functional variants with MAF≤ 1% using count statistics, we observed a nominally statistically significant association, with the burden of rare NINJ2 variants contributing to decreased ischemic stroke incidence (HR = 0.81; p = 0.026.Common and rare variants in the NINJ2 region were nominally associated with incident ischemic stroke among a subset of CHARGE participants. Allelic heterogeneity at this locus, caused by multiple rare, low frequency, and common variants with disparate effects on risk, may explain the difficulties in replicating the original GWAS results. Additional studies that take into account the complex allelic architecture at this locus are needed to confirm these findings.

  9. SNPs selection using support vector regression and genetic algorithms in GWAS.

    Science.gov (United States)

    de Oliveira, Fabrízzio Condé; Borges, Carlos Cristiano Hasenclever; Almeida, Fernanda Nascimento; e Silva, Fabyano Fonseca; da Silva Verneque, Rui; da Silva, Marcos Vinicius G B; Arbex, Wagner

    2014-01-01

    This paper proposes a new methodology to simultaneously select the most relevant SNPs markers for the characterization of any measurable phenotype described by a continuous variable using Support Vector Regression with Pearson Universal kernel as fitness function of a binary genetic algorithm. The proposed methodology is multi-attribute towards considering several markers simultaneously to explain the phenotype and is based jointly on statistical tools, machine learning and computational intelligence. The suggested method has shown potential in the simulated database 1, with additive effects only, and real database. In this simulated database, with a total of 1,000 markers, and 7 with major effect on the phenotype and the other 993 SNPs representing the noise, the method identified 21 markers. Of this total, 5 are relevant SNPs between the 7 but 16 are false positives. In real database, initially with 50,752 SNPs, we have reduced to 3,073 markers, increasing the accuracy of the model. In the simulated database 2, with additive effects and interactions (epistasis), the proposed method matched to the methodology most commonly used in GWAS. The method suggested in this paper demonstrates the effectiveness in explaining the real phenotype (PTA for milk), because with the application of the wrapper based on genetic algorithm and Support Vector Regression with Pearson Universal, many redundant markers were eliminated, increasing the prediction and accuracy of the model on the real database without quality control filters. The PUK demonstrated that it can replicate the performance of linear and RBF kernels.

  10. GWAS in a box: statistical and visual analytics of structured associations via GenAMap.

    Directory of Open Access Journals (Sweden)

    Eric P Xing

    Full Text Available With the continuous improvement in genotyping and molecular phenotyping technology and the decreasing typing cost, it is expected that in a few years, more and more clinical studies of complex diseases will recruit thousands of individuals for pan-omic genetic association analyses. Hence, there is a great need for algorithms and software tools that could scale up to the whole omic level, integrate different omic data, leverage rich structure information, and be easily accessible to non-technical users. We present GenAMap, an interactive analytics software platform that 1 automates the execution of principled machine learning methods that detect genome- and phenome-wide associations among genotypes, gene expression data, and clinical or other macroscopic traits, and 2 provides new visualization tools specifically designed to aid in the exploration of association mapping results. Algorithmically, GenAMap is based on a new paradigm for GWAS and PheWAS analysis, termed structured association mapping, which leverages various structures in the omic data. We demonstrate the function of GenAMap via a case study of the Brem and Kruglyak yeast dataset, and then apply it on a comprehensive eQTL analysis of the NIH heterogeneous stock mice dataset and report some interesting findings. GenAMap is available from http://sailing.cs.cmu.edu/genamap.

  11. A Cellular GWAS Approach to Define Human Variation in Cellular Pathways Important to Inflammation

    Directory of Open Access Journals (Sweden)

    Samuel I. Miller

    2016-04-01

    Full Text Available An understanding of common human diversity in innate immune pathways should be beneficial in understanding autoimmune diseases, susceptibility to infection, and choices of anti-inflammatory treatment. Such understanding could also result in definition of currently unknown components of human inflammation pathways. A cellular genome-wide association studies (GWAS platform, termed Hi-HOST (High-throughput human in vitro susceptibility testing, was developed to assay in vitro cellular phenotypes of infection in genotyped lymphoblastoid cells from genetically diverse human populations. Hi-HOST allows for measurement of multiple host and pathogen parameters of infection/inflammation including: bacterial invasion and intracellular replication, host cell death, and cytokine production. Hi-HOST has been used to successfully define a significant portion of the heritable human diversity in inflammatory cell death in response to Salmonella typhimurium. It also led to the discovery of genetic variants important to protection against systemic inflammatory response syndrome (SIRS and protection against death and bacteremia in individuals with SIRS. Our laboratory is currently using this platform to define human diversity in autophagy and the NLPR3 inflammasome pathways, and to define new components that can impact the expression of phenotypes related to these pathways.

  12. GWAS, QTL mapping and gene expression analyses in Brassica napus reveal genetic control of branching morphogenesis.

    Science.gov (United States)

    He, Yajun; Wu, Daoming; Wei, Dayong; Fu, Ying; Cui, Yixin; Dong, Hongli; Tan, Chuandong; Qian, Wei

    2017-11-21

    Branch number is an important trait in plant architecture that can influence crop yield and quality in Brassica napus. Here, we detected the QTLs responsible for branch number in a DH population and its reconstructed F2 population over two years. Further, a GWAS research on branch number was performed using a panel of 327 accessions with 33186 genomic SNPs from the 60 K Brassica Illumina® Infinium SNP array. Through combining linkage analysis and association mapping, a new QTL was fine mapped onto C03. Subsequently, we tested the correlations between the SNP polymorphisms and mRNA expression levels of genes in the target interval to identify potential loci or genes that control branch number through expression. The results show that 4 SNP loci are associated with the corresponding gene expression levels, and one locus (BnaC03g63480D) exhibited a significant correlation between the phenotype variation and gene expression levels. Our results provide insights into the genetic basis for branching morphogenesis and may be valuable for optimizing architecture in rapeseed breeding.

  13. GWAS in a Box: Statistical and Visual Analytics of Structured Associations via GenAMap

    Science.gov (United States)

    Xing, Eric P.; Curtis, Ross E.; Schoenherr, Georg; Lee, Seunghak; Yin, Junming; Puniyani, Kriti; Wu, Wei; Kinnaird, Peter

    2014-01-01

    With the continuous improvement in genotyping and molecular phenotyping technology and the decreasing typing cost, it is expected that in a few years, more and more clinical studies of complex diseases will recruit thousands of individuals for pan-omic genetic association analyses. Hence, there is a great need for algorithms and software tools that could scale up to the whole omic level, integrate different omic data, leverage rich structure information, and be easily accessible to non-technical users. We present GenAMap, an interactive analytics software platform that 1) automates the execution of principled machine learning methods that detect genome- and phenome-wide associations among genotypes, gene expression data, and clinical or other macroscopic traits, and 2) provides new visualization tools specifically designed to aid in the exploration of association mapping results. Algorithmically, GenAMap is based on a new paradigm for GWAS and PheWAS analysis, termed structured association mapping, which leverages various structures in the omic data. We demonstrate the function of GenAMap via a case study of the Brem and Kruglyak yeast dataset, and then apply it on a comprehensive eQTL analysis of the NIH heterogeneous stock mice dataset and report some interesting findings. GenAMap is available from http://sailing.cs.cmu.edu/genamap. PMID:24905018

  14. Ischemic Stroke: From Next Generation Sequencing and GWAS to Community Genomics?

    Science.gov (United States)

    Black, Michael; Wang, Wenzhi; Wang, Wei

    2015-08-01

    Stroke is a major cause of mortality and morbidity in both the developed and developing world. Next generation sequencing (NGS) and multi-omics integrative biology research offer new opportunities in the way we research and understand stroke. These biotechnologies also signal a shift from genetics to genomics of stroke, which is highlighted in this review. Stroke is a focal neurological deficit resulting from disruption of the cerebral blood supply. There are two main types of common stroke, ischemic stroke (IS), which comprises 80% of cases, and hemorrhagic stroke (HS) that accounts for about 20% of cases. IS is a complex multi-factorial disease with multiple environmental and genomic determinants. We discuss here IS from genomics and bioinformatics perspectives, including the highlights of the genome wide association studies (GWAS), NGS progress to date, and exome studies. While both 'common variant, common disease' and 'rare variant, common disease' approaches need to be assessed in tandem, future studies into IS omics should also consider pedigree and/or community based sampling to take account of the complex diversity of IS genetics. We conclude by presenting an example of such community genomics research from China in an extended pedigree sample, and the ways in which the intersection of genomics and global society can usefully inform our understanding of IS pathophysiology and potential preventive medicine interventions in the future.

  15. GWAS in a box: statistical and visual analytics of structured associations via GenAMap.

    Science.gov (United States)

    Xing, Eric P; Curtis, Ross E; Schoenherr, Georg; Lee, Seunghak; Yin, Junming; Puniyani, Kriti; Wu, Wei; Kinnaird, Peter

    2014-01-01

    With the continuous improvement in genotyping and molecular phenotyping technology and the decreasing typing cost, it is expected that in a few years, more and more clinical studies of complex diseases will recruit thousands of individuals for pan-omic genetic association analyses. Hence, there is a great need for algorithms and software tools that could scale up to the whole omic level, integrate different omic data, leverage rich structure information, and be easily accessible to non-technical users. We present GenAMap, an interactive analytics software platform that 1) automates the execution of principled machine learning methods that detect genome- and phenome-wide associations among genotypes, gene expression data, and clinical or other macroscopic traits, and 2) provides new visualization tools specifically designed to aid in the exploration of association mapping results. Algorithmically, GenAMap is based on a new paradigm for GWAS and PheWAS analysis, termed structured association mapping, which leverages various structures in the omic data. We demonstrate the function of GenAMap via a case study of the Brem and Kruglyak yeast dataset, and then apply it on a comprehensive eQTL analysis of the NIH heterogeneous stock mice dataset and report some interesting findings. GenAMap is available from http://sailing.cs.cmu.edu/genamap.

  16. Evaluation of GWAS candidate susceptibility loci for uterine leiomyoma in the multi-ethnic NIEHS uterine fibroid study

    Directory of Open Access Journals (Sweden)

    Brahim eAissani

    2015-07-01

    Full Text Available We evaluated the association of 56 candidate SNPs identified in two published genome-wide association studies (GWAS of uterine leiomyoma (UL, or fibroids, with the risk and tumor size in the multi-ethnic uterine fibroid study (NIEHS-UFS. The selected SNPs were genotyped in 916 premenopausal women of African American (AA and European American (EA descents and their association with the outcomes was evaluated in race-stratified models and in meta-analysis of risk in NIEHS-UFS and discovery and replication GWAS in the Japanese population. We report moderate associations of variant rs4954368 in THSD7B (thrombospondin, type I, domain containing 7B with tumor size in pooled analysis of AA and EA samples (P = 0.004, and at TNRC6B (trinucleotide repeat containing 6B variants rs138039 and rs139909 in EA (P = 0.001 and P = 0.008, respectively. The most significant associations with risk in meta-analysis were observed at TNRC6B variants rs739182 (P = 3.7 x 10-10 and rs2072858 (P = 1.1 x 10-9 and were stronger than those reported in the discovery GWAS (P =2.01 x 10-8 and P = 2.58 x 10-8, respectively. The present study failed to replicate the associations reported for CCDC57 and FASN in a discovery GWAS in populations of European descent. Consistent with previous replication studies in the Right From the Start Study (RFTS and the BioVU DNA repository, we provide independent evidence for association of TNRC6B with both risk and size of UL. The present study is the first to report a replicated association of THSD7B with UL, albeit with tumor size and not with risk.

  17. Treating the disconfirmed psychiatric client.

    Science.gov (United States)

    Heineken, J

    1983-01-01

    Frequent disconfirmation behaviors have been documented in psychiatric clients. Individuals who demonstrate maladaptive patterns of disconfirmation can learn to understand and modify this dysfunctional sequence. Through one to one interactions and group discussions, psychiatric nurses can help clients learn more positive communication behaviors. This accomplishment will positively affect the client's interpersonal responsiveness and self-esteem.

  18. Psychiatric comorbidity : fact or artifact?

    NARCIS (Netherlands)

    van Loo, Hanna; Romeijn, Johannes

    The frequent occurrence of comorbidity has brought about an extensive theoretical debate in psychiatry. Why are the rates of psychiatric comorbidity so high and what are their implications for the ontological and epistemological status of comorbid psychiatric diseases? Current explanations focus

  19. College Students with Psychiatric Disabilities

    Science.gov (United States)

    Singh, Delar K.

    2011-01-01

    This paper focuses on college students with psychiatric disabilities. It defines and discusses various psychiatric conditions such as mood disorders, anxiety disorders, eating disorders, and personality disorders. It concludes with accommodations that a college professor can make to help these students succeed in higher education. (Contains 1…

  20. Latest Developments of the Isprs Student Consortium

    Science.gov (United States)

    Detchev, I.; Kanjir, U.; Reyes, S. R.; Miyazaki, H.; Aktas, A. F.

    2016-06-01

    The International Society for Photogrammetry and Remote Sensing (ISPRS) Student Consortium (SC) is a network for young professionals studying or working within the fields of photogrammetry, remote sensing, Geographical Information Systems (GIS), and other related geo-spatial sciences. The main goal of the network is to provide means for information exchange for its young members and thus help promote and integrate youth into the ISPRS. Over the past four years the Student Consortium has successfully continued to fulfil its mission in both formal and informal ways. The formal means of communication of the SC are its website, newsletter, e-mail announcements and summer schools, while its informal ones are multiple social media outlets and various social activities during student related events. The newsletter is published every three to four months and provides both technical and experiential content relevant for the young people in the ISPRS. The SC has been in charge or at least has helped with organizing one or more summer schools every year. The organization's e-mail list has over 1,100 subscribers, its website hosts over 1,300 members from 100 countries across the entire globe, and its public Facebook group currently has over 4,500 joined visitors, who connect among one another and share information relevant for their professional careers. These numbers show that the Student Consortium has grown into a significant online-united community. The paper will present the organization's on-going and past activities for the last four years, its current priorities and a strategic plan and aspirations for the future four-year period.

  1. GWAS on your notebook: fast semi-parallel linear and logistic regression for genome-wide association studies.

    Science.gov (United States)

    Sikorska, Karolina; Lesaffre, Emmanuel; Groenen, Patrick F J; Eilers, Paul H C

    2013-05-28

    Genome-wide association studies have become very popular in identifying genetic contributions to phenotypes. Millions of SNPs are being tested for their association with diseases and traits using linear or logistic regression models. This conceptually simple strategy encounters the following computational issues: a large number of tests and very large genotype files (many Gigabytes) which cannot be directly loaded into the software memory. One of the solutions applied on a grand scale is cluster computing involving large-scale resources. We show how to speed up the computations using matrix operations in pure R code. We improve speed: computation time from 6 hours is reduced to 10-15 minutes. Our approach can handle essentially an unlimited amount of covariates efficiently, using projections. Data files in GWAS are vast and reading them into computer memory becomes an important issue. However, much improvement can be made if the data is structured beforehand in a way allowing for easy access to blocks of SNPs. We propose several solutions based on the R packages ff and ncdf.We adapted the semi-parallel computations for logistic regression. We show that in a typical GWAS setting, where SNP effects are very small, we do not lose any precision and our computations are few hundreds times faster than standard procedures. We provide very fast algorithms for GWAS written in pure R code. We also show how to rearrange SNP data for fast access.

  2. Meta-GWAS and Meta-Analysis of Exome Array Studies Do Not Reveal Genetic Determinants of Serum Hepcidin

    Science.gov (United States)

    Galesloot, Tessel E.; van Dijk, Freerk; Geurts-Moespot, Anneke J.; Girelli, Domenico; Kiemeney, Lambertus A. L. M.; Sweep, Fred C. G. J.; Swertz, Morris A.; van der Meer, Peter; Camaschella, Clara; Toniolo, Daniela; Vermeulen, Sita H.; van der Harst, Pim; Swinkels, Dorine W.

    2016-01-01

    Serum hepcidin concentration is regulated by iron status, inflammation, erythropoiesis and numerous other factors, but underlying processes are incompletely understood. We studied the association of common and rare single nucleotide variants (SNVs) with serum hepcidin in one Italian study and two large Dutch population-based studies. We genotyped common SNVs with genome-wide association study (GWAS) arrays and subsequently performed imputation using the 1000 Genomes reference panel. Cohort-specific GWAS were performed for log-transformed serum hepcidin, adjusted for age and gender, and results were combined in a fixed-effects meta-analysis (total N 6,096). Six top SNVs (pp<1.4x10-6) was identified. Gene-based meta-analyses revealed 19 genes that showed significant association with hepcidin. Our results suggest the absence of common SNVs and rare exonic SNVs explaining a large proportion of phenotypic variation in serum hepcidin. We recommend extension of our study once additional substantial cohorts with hepcidin measurements, GWAS and/or exome array data become available in order to increase power to identify variants that explain a smaller proportion of hepcidin variation. In addition, we encourage follow-up of the potentially interesting genes that resulted from the gene-based analysis of low-frequency and rare variants. PMID:27846281

  3. University Research Consortium annual review meeting program

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1996-07-01

    This brochure presents the program for the first annual review meeting of the University Research Consortium (URC) of the Idaho National Engineering Laboratory (INEL). INEL is a multiprogram laboratory with a distinctive role in applied engineering. It also conducts basic science research and development, and complex facility operations. The URC program consists of a portfolio of research projects funded by INEL and conducted at universities in the United States. In this program, summaries and participant lists for each project are presented as received from the principal investigators.

  4. Midwest Superconductivity Consortium: 1994 Progress report

    Energy Technology Data Exchange (ETDEWEB)

    1995-01-01

    The mission of the Midwest Superconductivity Consortium, MISCON, is to advance the science and understanding of high {Tc} superconductivity. During the past year, 27 projects produced over 123 talks and 139 publications. Group activities and interactions involved 2 MISCON group meetings (held in August and January); with the second MISCON Workshop held in August; 13 external speakers; 79 collaborations (with universities, industry, Federal laboratories, and foreign research centers); and 48 exchanges of samples and/or measurements. Research achievements this past year focused on understanding the effects of processing phenomena on structure-property interrelationships and the fundamental nature of transport properties in high-temperature superconductors.

  5. i-GSEA4GWAS: a web server for identification of pathways/gene sets associated with traits by applying an improved gene set enrichment analysis to genome-wide association study

    Science.gov (United States)

    Zhang, Kunlin; Cui, Sijia; Chang, Suhua; Zhang, Liuyan; Wang, Jing

    2010-01-01

    Genome-wide association study (GWAS) is nowadays widely used to identify genes involved in human complex disease. The standard GWAS analysis examines SNPs/genes independently and identifies only a number of the most significant SNPs. It ignores the combined effect of weaker SNPs/genes, which leads to difficulties to explore biological function and mechanism from a systems point of view. Although gene set enrichment analysis (GSEA) has been introduced to GWAS to overcome these limitations by identifying the correlation between pathways/gene sets and traits, the heavy dependence on genotype data, which is not easily available for most published GWAS investigations, has led to limited application of it. In order to perform GSEA on a simple list of GWAS SNP P-values, we implemented GSEA by using SNP label permutation. We further improved GSEA (i-GSEA) by focusing on pathways/gene sets with high proportion of significant genes. To provide researchers an open platform to analyze GWAS data, we developed the i-GSEA4GWAS (improved GSEA for GWAS) web server. i-GSEA4GWAS implements the i-GSEA approach and aims to provide new insights in complex disease studies. i-GSEA4GWAS is freely available at http://gsea4gwas.psych.ac.cn/. PMID:20435672

  6. Gene therapy for psychiatric disorders.

    Science.gov (United States)

    Gelfand, Yaroslav; Kaplitt, Michael G

    2013-01-01

    Gene therapy has become of increasing interest in clinical neurosurgery with the completion of numerous clinical trials for Parkinson disease, Alzheimer disease, and pediatric genetic disorders. With improved understanding of the dysfunctional circuitry mediating various psychiatric disorders, deep brain stimulation for refractory psychiatric diseases is being increasingly explored in human patients. These factors are likely to facilitate development of gene therapy for psychiatric diseases. Because delivery of gene therapy agents would require the same surgical techniques currently being employed for deep brain stimulation, neurosurgeons are likely to lead the development of this field, as has occurred in other areas of clinical gene therapy for neurologic disorders. We review the current state of gene therapy for psychiatric disorders and focus specifically on particular areas of promising research that may translate into human trials for depression, drug addiction, obsessive-compulsive disorder, and schizophrenia. Issues that are relatively unique to psychiatric gene therapy are also discussed. Copyright © 2013. Published by Elsevier Inc.

  7. The psychiatric interview

    DEFF Research Database (Denmark)

    Frederiksen, Julie Elisabeth Nordgaard; Sass, Louis A; Parnas, Josef

    2012-01-01

    that are historically rooted in logical positivism and behaviorism. These theoretical approaches marked decisively the so-called "operational revolution in psychiatry" leading to the creation of DSM-III. This paper attempts to examine the theoretical assumptions that underlie the use of a fully structured psychiatric...... person), actionable format, used for classification, treatment, and research. Our central thesis is that psychiatry targets the phenomena of consciousness, which, unlike somatic symptoms and signs, cannot be grasped on the analogy with material thing-like objects. We claim that in order to perform...... faithful distinctions in this particular domain, we need a more adequate approach, that is, an approach that is guided by phenomenologically informed considerations. Our theoretical discussion draws upon clinical examples derived from structured and semi-structured interviews. We conclude that fully...

  8. BIODEGRADATION OF MTBE BY A MICROORGANISM CONSORTIUM

    Directory of Open Access Journals (Sweden)

    M. Alimohammadi, A. R. Mesdaghinia, M. Mahmoodi, S. Nasseri, A. H. Mahvi and J. Nouri

    2005-10-01

    Full Text Available Methyl Tert-Butyl Ether (MTBE is one of the ether oxygenates which its use has been increased within the last twenty years. This compound is produced from isobutylene and methanol reaction that is used as octane index enhancer and also increases dissolved oxygen in gasoline and decreases carbon monoxide emission in four phased motors because of better combustion of gasoline. High solubility in water (52 g/L, high vapor pressure (0.54 kg/cm3, low absorption to organic carbon of soil and presence of MTBE in the list of potentially-carcinogens of U.S EPA has made its use of great concern. The culture media used in this study was Mineral Salt Medium (MSM. The study lasted for 236 days and in three different concentrations of MTBE of 200, 5 and 0.8 mg/L. A control sample was also used to compare the results. This research studied the isolation methods of microbial consortium in the MTBE polluted soils in Tehran and Abadan petroleum refinery besides MTBE degradation. The results showed the capability of bacteria in consuming MTBE as carbon source. Final microbial isolation was performed with several microbial passages as well as keeping consortium in a certain amount of MTBE as the carbon source.

  9. The NIH Extracellular RNA Communication Consortium

    Directory of Open Access Journals (Sweden)

    Alexandra M. Ainsztein

    2015-08-01

    Full Text Available The Extracellular RNA (exRNA Communication Consortium, funded as an initiative of the NIH Common Fund, represents a consortium of investigators assembled to address the critical issues in the exRNA research arena. The overarching goal is to generate a multi-component community resource for sharing fundamental scientific discoveries, protocols, and innovative tools and technologies. The key initiatives include (a generating a reference catalogue of exRNAs present in body fluids of normal healthy individuals that would facilitate disease diagnosis and therapies, (b defining the fundamental principles of exRNA biogenesis, distribution, uptake, and function, as well as development of molecular tools, technologies, and imaging modalities to enable these studies, (c identifying exRNA biomarkers of disease, (d demonstrating clinical utility of exRNAs as therapeutic agents and developing scalable technologies required for these studies, and (e developing a community resource, the exRNA Atlas, to provide the scientific community access to exRNA data, standardized exRNA protocols, and other useful tools and technologies generated by funded investigators.

  10. Fermentative hydrogen production by microbial consortium

    Energy Technology Data Exchange (ETDEWEB)

    Maintinguer, Sandra I.; Fernandes, Bruna S.; Duarte, Iolanda C.S.; Saavedra, Nora Katia; Adorno, M. Angela T.; Varesche, M. Bernadete [Department of Hydraulics and Sanitation, School of Engineering of Sao Carlos, University of Sao Paulo, Av. Trabalhador Sao-carlense, 400, 13566-590 Sao Carlos-SP (Brazil)

    2008-08-15

    Heat pre-treatment of the inoculum associated to the pH control was applied to select hydrogen-producing bacteria and endospores-forming bacteria. The source of inoculum to the heat pre-treatment was from a UASB reactor used in the slaughterhouse waste treatment. The molecular biology analyses indicated that the microbial consortium presented microorganisms affiliated with Enterobacter cloacae (97% and 98%), Clostridium sp. (98%) and Clostridium acetobutyricum (96%), recognized as H{sub 2} and volatile acids' producers. The following assays were carried out in batch reactors in order to verify the efficiencies of sucrose conversion to H{sub 2} by the microbial consortium: (1) 630.0 mg sucrose/L, (2) 1184.0 mg sucrose/L, (3) 1816.0 mg sucrose/L and (4) 4128.0 mg sucrose/L. The subsequent yields were obtained as follows: 15% (1.2 mol H{sub 2}/mol sucrose), 20% (1.6 mol H{sub 2}/mol sucrose), 15% (1.2 mol H{sub 2}/mol sucrose) and 4% (0.3 mol H{sub 2}/mol sucrose), respectively. The intermediary products were acetic acid, butyric acid, methanol and ethanol in all of the anaerobic reactors. (author)

  11. Overview of the carbon products consortium (CPC)

    Energy Technology Data Exchange (ETDEWEB)

    Irwin, C.L. [West Virginia Univ., Morgantown, WV (United States)

    1996-08-01

    The Carbon Products Consortium (CPC) is an industry, university, government cooperative research team which has evolved over the past seven years to produce and evaluate coal-derived feedstocks for carbon products. The members of the Carbon Products Consortium are UCAR Carbon Company, Koppers Industries, CONOCO, Aluminum Company of America, AMOCO Polymers, and West Virginia University. The Carbon and Insulation Materials Technology Group at Oak Ridge National Laboratory, Fiber Materials Inc., and BASF Corporation are affiliates of the CPC. The initial work on coal-derived nuclear graphites was supported by a grant to WVU, UCAR Carbon, and ORNL from the U.S. DOE New Production Reactor program. More recently, the CPC program has been supported through the Fossil Energy Materials program and through PETC`s Liquefaction program. The coal processing technologies involve hydrogenation, extraction by solvents such as N-methyl pyrolidone and toluene, material blending, and calcination. The breadth of carbon science expertise and manufacturing capability available in the CPC enables it to address virtually all research and development issues of importance to the carbon products industry.

  12. GWAS-based pathway analysis differentiates between fluid and crystallized intelligence.

    Science.gov (United States)

    Christoforou, A; Espeseth, T; Davies, G; Fernandes, C P D; Giddaluru, S; Mattheisen, M; Tenesa, A; Harris, S E; Liewald, D C; Payton, A; Ollier, W; Horan, M; Pendleton, N; Haggarty, P; Djurovic, S; Herms, S; Hoffman, P; Cichon, S; Starr, J M; Lundervold, A; Reinvang, I; Steen, V M; Deary, I J; Le Hellard, S

    2014-09-01

    Cognitive abilities vary among people. About 40-50% of this variability is due to general intelligence (g), which reflects the positive correlation among individuals' scores on diverse cognitive ability tests. g is positively correlated with many life outcomes, such as education, occupational status and health, motivating the investigation of its underlying biology. In psychometric research, a distinction is made between general fluid intelligence (gF) - the ability to reason in novel situations - and general crystallized intelligence (gC) - the ability to apply acquired knowledge. This distinction is supported by developmental and cognitive neuroscience studies. Classical epidemiological studies and recent genome-wide association studies (GWASs) have established that these cognitive traits have a large genetic component. However, no robust genetic associations have been published thus far due largely to the known polygenic nature of these traits and insufficient sample sizes. Here, using two GWAS datasets, in which the polygenicity of gF and gC traits was previously confirmed, a gene- and pathway-based approach was undertaken with the aim of characterizing and differentiating their genetic architecture. Pathway analysis, using genes selected on the basis of relaxed criteria, revealed notable differences between these two traits. gF appeared to be characterized by genes affecting the quantity and quality of neurons and therefore neuronal efficiency, whereas long-term depression (LTD) seemed to underlie gC. Thus, this study supports the gF-gC distinction at the genetic level and identifies functional annotations and pathways worthy of further investigation. © 2014 The Authors. Genes, Brain and Behavior published by International Behavioural and Neural Genetics Society and John Wiley & Sons Ltd.

  13. Pathway analysis of GWAS provides new insights into genetic susceptibility to 3 inflammatory diseases.

    Directory of Open Access Journals (Sweden)

    Hariklia Eleftherohorinou

    2009-11-01

    Full Text Available Although the introduction of genome-wide association studies (GWAS have greatly increased the number of genes associated with common diseases, only a small proportion of the predicted genetic contribution has so far been elucidated. Studying the cumulative variation of polymorphisms in multiple genes acting in functional pathways may provide a complementary approach to the more common single SNP association approach in understanding genetic determinants of common disease. We developed a novel pathway-based method to assess the combined contribution of multiple genetic variants acting within canonical biological pathways and applied it to data from 14,000 UK individuals with 7 common diseases. We tested inflammatory pathways for association with Crohn's disease (CD, rheumatoid arthritis (RA and type 1 diabetes (T1D with 4 non-inflammatory diseases as controls. Using a variable selection algorithm, we identified variants responsible for the pathway association and evaluated their use for disease prediction using a 10 fold cross-validation framework in order to calculate out-of-sample area under the Receiver Operating Curve (AUC. The generalisability of these predictive models was tested on an independent birth cohort from Northern Finland. Multiple canonical inflammatory pathways showed highly significant associations (p 10(-3-10(-20 with CD, T1D and RA. Variable selection identified on average a set of 205 SNPs (149 genes for T1D, 350 SNPs (189 genes for RA and 493 SNPs (277 genes for CD. The pattern of polymorphisms at these SNPS were found to be highly predictive of T1D (91% AUC and RA (85% AUC, and weakly predictive of CD (60% AUC. The predictive ability of the T1D model (without any parameter refitting had good predictive ability (79% AUC in the Finnish cohort. Our analysis suggests that genetic contribution to common inflammatory diseases operates through multiple genes interacting in functional pathways.

  14. Finding unique filter sets in PLATO: a precursor to efficient interaction analysis in GWAS data.

    Science.gov (United States)

    Grady, Benjamin J; Torstenson, Eric; Dudek, Scott M; Giles, Justin; Sexton, David; Ritchie, Marylyn D

    2010-01-01

    The methods to detect gene-gene interactions between variants in genome-wide association study (GWAS) datasets have not been well developed thus far. PLATO, the Platform for the Analysis, Translation and Organization of large-scale data, is a filter-based method bringing together many analytical methods simultaneously in an effort to solve this problem. PLATO filters a large, genomic dataset down to a subset of genetic variants, which may be useful for interaction analysis. As a precursor to the use of PLATO for the detection of gene-gene interactions, the implementation of a variety of single locus filters was completed and evaluated as a proof of concept. To streamline PLATO for efficient epistasis analysis, we determined which of 24 analytical filters produced redundant results. Using a kappa score to identify agreement between filters, we grouped the analytical filters into 4 filter classes; thus all further analyses employed four filters. We then tested the MAX statistic put forth by Sladek et al. (1) in simulated data exploring a number of genetic models of modest effect size. To find the MAX statistic, the four filters were run on each SNP in each dataset and the smallest p-value among the four results was taken as the final result. Permutation testing was performed to empirically determine the p-value. The power of the MAX statistic to detect each of the simulated effects was determined in addition to the Type 1 error and false positive rates. The results of this simulation study demonstrates that PLATO using the four filters incorporating the MAX statistic has higher power on average to find multiple types of effects and a lower false positive rate than any of the individual filters alone. In the future we will extend PLATO with the MAX statistic to interaction analyses for large-scale genomic datasets.

  15. GWAS and admixture mapping identify different asthma-associated loci in Latinos: The GALA II Study

    Science.gov (United States)

    Galanter, Joshua M; Gignoux, Christopher R; Torgerson, Dara G; Roth, Lindsey A; Eng, Celeste; Oh, Sam S; Nguyen, Elizabeth A; Drake, Katherine A; Huntsman, Scott; Hu, Donglei; Sen, Saunak; Davis, Adam; Farber, Harold J.; Avila, Pedro C.; Brigino-Buenaventura, Emerita; LeNoir, Michael A.; Meade, Kelley; Serebrisky, Denise; Borrell, Luisa N; Rodríguez-Cintrón, William; Estrada, Andres Moreno; Mendoza, Karla Sandoval; Winkler, Cheryl A.; Klitz, William; Romieu, Isabelle; London, Stephanie J.; Gilliland, Frank; Martinez, Fernando; Bustamante, Carlos; Williams, L Keoki; Kumar, Rajesh; Rodríguez-Santana, José R.; Burchard, and Esteban G.

    2013-01-01

    Background Asthma is a complex disease with both genetic and environmental causes. Genome-wide association studies of asthma have mostly involved European populations and replication of positive associations has been inconsistent. Objective To identify asthma-associated genes in a large Latino population with genome-wide association analysis and admixture mapping. Methods Latino children with asthma (n = 1,893) and healthy controls (n = 1,881) were recruited from five sites in the United States: Puerto Rico, New York, Chicago, Houston, and the San Francisco Bay Area. Subjects were genotyped on an Affymetrix World Array IV chip. We performed genome-wide association and admixture mapping to identify asthma-associated loci. Results We identified a significant association between ancestry and asthma at 6p21 (lowest p-value: rs2523924, p < 5 × 10−6). This association replicates in a meta-analysis of the EVE Asthma Consortium (p = 0.01). Fine mapping of the region in this study and the EVE Asthma Consortium suggests an association between PSORS1C1 and asthma. We confirmed the strong allelic association between the 17q21 asthma in Latinos (IKZF3, lowest p-value: rs90792, OR: 0.67, 95% CI 0.61 – 0.75, p = 6 × 10−13) and replicated associations in several genes that had previously been associated with asthma in genome-wide association studies. Conclusions Admixture mapping and genome-wide association are complementary techniques that provide evidence for multiple asthma-associated loci in Latinos. Admixture mapping identifies a novel locus on 6p21 that replicates in a meta-analysis of several Latino populations, while genome-wide association confirms the previously identified locus on 17q21. PMID:24406073

  16. Gender, status, and psychiatric labels.

    Science.gov (United States)

    Kroska, Amy; Harkness, Sarah K; Brown, Ryan P; Thomas, Lauren S

    2015-11-01

    We examine a key modified labeling theory proposition-that a psychiatric label increases vulnerability to competence-based criticism and rejection-within task- and collectively oriented dyads comprised of same-sex individuals with equivalent education. Drawing on empirical work that approximates these conditions, we expect the proposition to hold only among men. We also expect education, operationalized with college class standing, to moderate the effects of gender by reducing men's and increasing women's criticism and rejection. But, we also expect the effect of education to weaken when men work with a psychiatric patient. As predicted, men reject suggestions from teammates with a psychiatric history more frequently than they reject suggestions from other teammates, while women's resistance to influence is unaffected by their teammate's psychiatric status. Men also rate psychiatric patient teammates as less powerful but no lower in status than other teammates, while women's teammate assessments are unaffected by their teammate's psychiatric status. Also as predicted, education reduces men's resistance to influence when their teammate has no psychiatric history. Education also increases men's ratings of their teammate's power, as predicted, but has no effect on women's resistance to influence or teammate ratings. We discuss the implications of these findings for the modified labeling theory of mental illness and status characteristics theory. Copyright © 2015 Elsevier Inc. All rights reserved.

  17. The STRONG STAR Multidisciplinary PTSD Research Consortium

    Science.gov (United States)

    2009-09-01

    movement desensitization and reprocessing ( EMDR ) for PTSD rape victims. J Trauma Stress 18:607-616. Saunders, J. B., Aasland, O. G., Babor, T. F., De La...reprocessing: Basic principles, protocols, and procedures. New York: Guilford. Shapiro F (1996) Eye movement desensitization and reprocessing ( EMDR ...Evaluation of controlled PTSD research. J Behavior Ther and Exp Psychiatr 27:209-218. Shapiro F (1999) Eye movement desensitization and reprocessing ( EMDR

  18. Psychiatric disorders in myasthenia gravis

    Directory of Open Access Journals (Sweden)

    Mariana Inés Ybarra

    2011-04-01

    Full Text Available OBJECTIVE: To investigate the prevalence of psychiatric disorders in patients with myasthenia gravis (MG. METHOD: Forty-one patients with MG answered to a structured psychiatric interview (MINI-Plus. RESULTS: Eleven (26.1% patients were diagnosed with a depressive disorder and 19 (46.3% were diagnosed with an anxiety disorder. Patients with dysthymia were older (p=0.029 and had longer disease duration (p=0.006. Patients with social phobia also had longer disease duration (p=0.039. CONCLUSION: Psychiatric disorders in MG are common, especially depressive and anxiety disorders.

  19. The cerebellum and psychiatric disorders

    Directory of Open Access Journals (Sweden)

    Joseph ePhillips

    2015-05-01

    Full Text Available The cerebellum has been considered for a long time to play a role solely in motor coordination. However, studies over the past two decades have shown that the cerebellum also plays a key role in many motor, cognitive, and emotional processes. In addition, studies have also shown that the cerebellum is implicated in many psychiatric disorders including attention deficit hyperactivity disorder, autism spectrum disorders, schizophrenia, bipolar disorder, major depressive disorder and anxiety disorders. In this review, we discuss existing studies reporting cerebellar dysfunction in various psychiatric disorders. We will also discuss future directions for studies linking the cerebellum to psychiatric disorders.

  20. [Qualitative methods in psychiatric research].

    Science.gov (United States)

    Sikorski, Claudia; Glaesmer, Heide

    2011-01-01

    This article addresses the usage of qualitative methods in psychiatric research and presents the qualitative approach in more detail. Recent original empirical work of a German psychiatric journal was systematically reviewed. Methods used to collect and analyse the information are detailed. One third of the articles used a solely qualitative research design. One further article applied a combination of quantitative and qualitative approaches. Three kinds of the qualitative interviews were used (in depth, narrative and problem-focussed interview). Additionally, focus groups (group discussions) and qualitative content analysis were applied by studies. Qualitative approaches are an integral part of psychiatric research. Further work should assure to use adequate sampling strategies.

  1. Urban Consortium Energy Task Force - Year 21 Final Report

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    2003-04-01

    The Urban Consortium Energy Task Force (UCETF), comprised of representatives of large cities and counties in the United States, is a subgroup of the Urban Consortium, an organization of the nation's largest cities and counties joined together to identify, develop and deploy innovative approaches and technological solutions to pressing urban issues.

  2. TTI Phase 2 Institutional Support: Consortium pour la Recherche E ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    This funding will help strengthen the Consortium pour la recherche économique et sociale's (CRES) role as a credible public policy institution in Senegal by enhancing its ability to provide high-quality, influential, and policy-relevant research. About the Consortium pour la recherche économique et sociale. CRES was ...

  3. The Black Rock Forest Consortium: A narrative

    Science.gov (United States)

    Buzzetto-More, Nicole Antoinette

    The Black Rock Forest is a 3,785-acre wilderness area whose richly forested landscape represents the splendor of the Hudson Valley Region of New York State. Although originally intended to become the home of wealthy banker James Stillman, it was his son Ernest whose love of conservation caused him to embrace the then new and revolutionary practice of sustainable forestry and establish Black Rock in 1928. Due to Ernest Stillman's foresight, the property was protected from development and bequeathed to Harvard University following his death for the establishment of an experimental forest. The modern environmental movement in America began when the Black Rock Forest was threatened with development by Consolidated Edison, and the people of the surrounding community banded together, battling tirelessly for over 17 years to stop the degradation of this historic forest. The outcome of this crusade marked a hallmark win for the environment leaving an illustrious and inveterate legacy. The campaign resulted in the watershed legislation the National Environmental Policy Act, the formation of several environmental advocacy groups, the creation of the Council on Environmental Quality of the Executive Office of the President, as well as set a precedent for communities to initiate and win cases against major corporations in order to safeguard natural resources. In the midst of the controversy it became apparent that alternative futures for the Forest needed to be explored. As a result of a committee report and one man's vision, the idea emerged to create a consortium that would purchase and steward the Forest. With a formation that took nearly fifteen years, the Black Rock Forest Consortium was formed, a unique amalgamation of K--12 public and private schools, colleges and universities, and science and cultural centers that successfully collaborate to enhance scientific research, environmental conservation, and education. The Consortium works to bridge the gaps between learners

  4. Rabeprazole and psychiatric symptoms.

    Science.gov (United States)

    Polimeni, Giovanni; Cutroneo, Paola; Gallo, Adele; Gallo, Salvatore; Spina, Edoardo; Caputi, Achille P

    2007-07-01

    To report the case of a patient who developed marked anxiety associated with episodes of panic attacks after starting rabeprazole therapy. An otherwise healthy 55-year-old woman was prescribed rabeprazole 20 mg/day administered in the morning for persistent symptoms of dyspepsia. Ten days later, she presented with a 7 day history of marked anxiety associated with panic attacks, night terror (pavor nocturnus), episodic mental confusion, and attention deficit. Within 2 days of discontinuing rabeprazole, the patient recovered completely from the neuropsychiatric manifestations. Subsequent esomeprazole therapy did not cause psychiatric symptoms. Rabeprazole-induced hypergastrinemia may have played a role in this neuropsychiatric adverse reaction. Several lines of evidence have indicated that gastrin-releasing peptide, whose release is mediated by proton pump inhibitor (PPI)-induced secretion of gastrin, is involved in regulating aspects of behavior that might be altered in disorders such as anxiety, depression, and dementia. The fact that rabeprazole has the highest capacity of inducing gastrin increase compared with other PPIs might explain why our patient's panic symptoms disappeared after switching to esomeprazole. Based on the Naranjo probability scale, rabeprazole was the probable cause of the adverse reaction. Specific studies are needed to investigate the potential role of PPI-induced hypergastrinemia in neuropsychiatric adverse reactions.

  5. Lesion procedures in psychiatric neurosurgery.

    Science.gov (United States)

    Patel, Shaun R; Aronson, Joshua P; Sheth, Sameer A; Eskandar, Emad N

    2013-01-01

    Lesion procedures for psychiatric indications have a history that spans more than a century. This review provides a brief history of psychiatric surgery and addresses the most recent literature on lesion surgery for the treatment of anxiety and mood disorders. Relevant data described in publications from the early 1900 s through the modern era regarding lesion procedures for psychiatric indications, both historical and current use, are reported. The early procedures of Burkhardt, Moniz, and Freeman are reviewed, followed by descriptions of the more refined techniques of Leksell, Knight, Foltz, White, and Kelly. The application of lesion procedures to obsessive-compulsive disorder, mood disorders, and addiction are discussed. Lesioning procedures have informed modern deep brain stimulation targets. Recent lesioning studies demonstrate the efficacy and durability of these procedures in severely disabled patients. Judicious application of these techniques should continue for appropriately selected patients with severe, refractory psychiatric disorders. Copyright © 2013. Published by Elsevier Inc.

  6. Tics, ADHD and Psychiatric Comorbidity

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2002-06-01

    Full Text Available The prevalence of teacher-rated tic behaviors in 3006 school children, from preschool to adolescence, was determined in a study of comorbid psychiatric symptoms at State University of New York, Stony Brook, NY.

  7. Tics, ADHD and Psychiatric Comorbidity

    OpenAIRE

    J Gordon Millichap

    2002-01-01

    The prevalence of teacher-rated tic behaviors in 3006 school children, from preschool to adolescence, was determined in a study of comorbid psychiatric symptoms at State University of New York, Stony Brook, NY.

  8. Psychiatric disorders in the elderly.

    Science.gov (United States)

    Skoog, Ingmar

    2011-07-01

    Recent research has shown that depression, anxiety disorders, and psychosis are more common than previously supposed in elderly populations without dementia. It is unclear whether the frequency of these disorders increases or decreases with age. Clinical expression of psychiatric disorders in old age may be different from that seen in younger age groups, with less and often milder symptoms. Concurrently, comorbidity between different psychiatric disorders is immense, as well as comorbidity with somatic disorders. Cognitive function is often decreased in people with depression, anxiety disorders, and psychosis, but whether these disorders are risk factors for dementia is unclear. Psychiatric disorders in the elderly are often related to cerebral neurodegeneration and cerebrovascular disease, although psychosocial risk factors are also important. Psychiatric disorders, common among the elderly, have consequences that include social deprivation, poor quality of life, cognitive decline, disability, increased risk for somatic disorders, suicide, and increased nonsuicidal mortality.

  9. Midwest Superconductivity Consortium: 1995 Progress report

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1996-01-01

    The mission of the Midwest Superconductivity Consortium, MISCON, is to advance the science and understanding of high Tc superconductivity. During the past year, 26 projects produced over 133 talks and 127 publications. Three Master`s Degrees and 9 Doctor`s of Philosophy Degrees were granted to students working on MISCON projects. Group activities and interactions involved 2 MISCON group meetings (held in January and July); the third MISCON Summer School held in July; 12 external speakers; 81 collaborations (with universities, industry, Federal laboratories, and foreign research centers); and 54 exchanges of samples and/or measurements. Research achievements this past year focused on understanding the effects of processing phenomena on structure-property interrelationships and the fundamental nature of transport properties in high-temp superconductors.

  10. Perspectives of International Human Epigenome Consortium

    Directory of Open Access Journals (Sweden)

    Jae-Bum Bae

    2013-03-01

    Full Text Available As the International Human Epigenome Consortium (IHEC launched officially at the 2010 Washington meeting, a giant step toward the conquest of unexplored regions of the human genome has begun. IHEC aims at the production of 1,000 reference epigenomes to the international scientific community for next 7-10 years. Seven member institutions, including South Korea, Korea National Institute of Health (KNIH, will produce 25-200 reference epigenomes individually, and the produced data will be publically available by using a data center. Epigenome data will cover from whole genome bisulfite sequencing, histone modification, and chromatin access information to miRNA-seq. The final goal of IHEC is the production of reference maps of human epigenomes for key cellular status relevant to health and disease.

  11. Psychiatric emergencies (part II): psychiatric disorders coexisting with organic diseases.

    Science.gov (United States)

    Testa, A; Giannuzzi, R; Sollazzo, F; Petrongolo, L; Bernardini, L; Dain, S

    2013-02-01

    In this Part II psychiatric disorders coexisting with organic diseases are discussed. "Comorbidity phenomenon" defines the not univocal interrelation between medical illnesses and psychiatric disorders, each other negatively influencing morbidity and mortality. Most severe psychiatric disorders, such as schizophrenia, bipolar disorder and depression, show increased prevalence of cardiovascular disease, related to poverty, use of psychotropic medication, and higher rate of preventable risk factors such as smoking, addiction, poor diet and lack of exercise. Moreover, psychiatric and organic disorders can develop together in different conditions of toxic substance and prescription drug use or abuse, especially in the emergency setting population. Different combinations with mutual interaction of psychiatric disorders and substance use disorders are defined by the so called "dual diagnosis". The hypotheses that attempt to explain the psychiatric disorders and substance abuse relationship are examined: (1) common risk factors; (2) psychiatric disorders precipitated by substance use; (3) psychiatric disorders precipitating substance use (self-medication hypothesis); and (4) synergistic interaction. Diagnostic and therapeutic difficulty concerning the problem of dual diagnosis, and legal implications, are also discussed. Substance induced psychiatric and organic symptoms can occur both in the intoxication and withdrawal state. Since ancient history, humans selected indigene psychotropic plants for recreational, medicinal, doping or spiritual purpose. After the isolation of active principles or their chemical synthesis, higher blood concentrations reached predispose to substance use, abuse and dependence. Abuse substances have specific molecular targets and very different acute mechanisms of action, mainly involving dopaminergic and serotoninergic systems, but finally converging on the brain's reward pathways, increasing dopamine in nucleus accumbens. The most common

  12. Evaluation of novel candidate variations and their interactions related to bipolar disorders: Analysis of GWAS data

    Directory of Open Access Journals (Sweden)

    Acikel C

    2016-11-01

    , have prioritized similar SNP profiles as predictors of bipolar disorders, in contrast to MDR, which has found different SNPs through analysis of two-way and three-way interactions. The reduced number of associated SNPs discovered by MDR, without loss in the classification performance, would facilitate validation studies and decision support models, and would reduce the cost to develop predictive and diagnostic tests. Nevertheless, we need to emphasize that translation of genomic models to the clinical setting requires models with higher classification performance. Keywords: Bipolar disorders, GWAS, MDR, Data Mining, SNP, Decision Support

  13. Mechanistic phenotypes: an aggregative phenotyping strategy to identify disease mechanisms using GWAS data.

    Directory of Open Access Journals (Sweden)

    Jonathan D Mosley

    Full Text Available A single mutation can alter cellular and global homeostatic mechanisms and give rise to multiple clinical diseases. We hypothesized that these disease mechanisms could be identified using low minor allele frequency (MAF<0.1 non-synonymous SNPs (nsSNPs associated with "mechanistic phenotypes", comprised of collections of related diagnoses. We studied two mechanistic phenotypes: (1 thrombosis, evaluated in a population of 1,655 African Americans; and (2 four groupings of cancer diagnoses, evaluated in 3,009 white European Americans. We tested associations between nsSNPs represented on GWAS platforms and mechanistic phenotypes ascertained from electronic medical records (EMRs, and sought enrichment in functional ontologies across the top-ranked associations. We used a two-step analytic approach whereby nsSNPs were first sorted by the strength of their association with a phenotype. We tested associations using two reverse genetic models and standard additive and recessive models. In the second step, we employed a hypothesis-free ontological enrichment analysis using the sorted nsSNPs to identify functional mechanisms underlying the diagnoses comprising the mechanistic phenotypes. The thrombosis phenotype was solely associated with ontologies related to blood coagulation (Fisher's p = 0.0001, FDR p = 0.03, driven by the F5, P2RY12 and F2RL2 genes. For the cancer phenotypes, the reverse genetics models were enriched in DNA repair functions (p = 2×10-5, FDR p = 0.03 (POLG/FANCI, SLX4/FANCP, XRCC1, BRCA1, FANCA, CHD1L while the additive model showed enrichment related to chromatid segregation (p = 4×10-6, FDR p = 0.005 (KIF25, PINX1. We were able to replicate nsSNP associations for POLG/FANCI, BRCA1, FANCA and CHD1L in independent data sets. Mechanism-oriented phenotyping using collections of EMR-derived diagnoses can elucidate fundamental disease mechanisms.

  14. Psychiatric characteristics of homicide defendants.

    Science.gov (United States)

    Martone, Christine A; Mulvey, Edward P; Yang, Suzanne; Nemoianu, Andrei; Shugarman, Ryan; Soliman, Layla

    2013-09-01

    The authors examined the rate of mental disorders in an unselected sample of homicide defendants in a U.S. jurisdiction, seeking to identify psychiatric factors associated with offense characteristics and court outcomes. Defendants charged with homicide in a U.S. urban county between 2001 and 2005 received a psychiatric evaluation after arrest. Demographic, historical, and psychiatric variables as well as offense characteristics and legal outcomes were described. Bivariate analyses examined differences by age group and by race, and logistic models examined predictors of multiple victims, firearm use, guilty plea, and guilty verdict. Fifty-eight percent of the sample had at least one axis I or II diagnosis, most often a substance use disorder (47%). Axis I or II diagnoses were more common (78%) among defendants over age 40. Although 37% of the sample had prior psychiatric treatment, only 8% of the defendants with diagnosed axis I disorders had outpatient treatment during the 3 months preceding the homicide; African Americans were less likely than non-African Americans to be in treatment. African American males were more likely to use a firearm and to have a male victim. In exploratory analyses, psychiatric factors did not predict multiple victims, firearm use in the crime, or a guilty verdict. Rates of axis I disorders were lower than reported in previous studies. Few homicide defendants were in psychiatric treatment at the time of the crime, suggesting limited opportunities for prevention by mental health providers.

  15. Psychiatric aspects of induced abortion.

    Science.gov (United States)

    Stotland, Nada L

    2011-08-01

    Approximately one third of the women in the United States have an abortion during their lives. In the year 2008, 1.21 million abortions were performed in the United States (Jones and Koolstra, Perspect Sex Reprod Health 43:41-50, 2011). The psychiatric outcomes of abortion are scientifically well established (Adler et al., Science 248:41-43, 1990). Despite assertions to the contrary, there is no evidence that abortion causes psychiatric problems (Dagg, Am J Psychiatry 148:578-585, 1991). Those studies that report psychiatric sequelae suffer from severe methodological defects (Lagakos, N Engl J Med 354:1667-1669, 2006). Methodologically sound studies have demonstrated that there is a very low incidence of frank psychiatric illness after an abortion; women experience a wide variety of feelings over time, including, for some, transient sadness and grieving. However, the circumstances that lead a woman to terminate a pregnancy, including previous and/or ongoing psychiatric illness, are independently stressful and increase the likelihood of psychiatric illness over the already high baseline incidence and prevalence of mood and anxiety disorders among women of childbearing age. For optimal psychological outcomes, women, including adolescents, need to make autonomous and supported decisions about problem pregnancies. Clinicians can help patients facing these decisions and those who are working through feelings about having had abortions in the past.

  16. Assessment of Five Chilling Tolerance Traits and GWAS Mapping in Rice Using the USDA Mini-Core Collection.

    Science.gov (United States)

    Schläppi, Michael R; Jackson, Aaron K; Eizenga, Georgia C; Wang, Aiju; Chu, Chengcai; Shi, Yao; Shimoyama, Naoki; Boykin, Debbie L

    2017-01-01

    Rice (Oryza sativa L.) is often exposed to cool temperatures during spring planting in temperate climates. A better understanding of genetic pathways regulating chilling tolerance will enable breeders to develop varieties with improved tolerance during germination and young seedling stages. To dissect chilling tolerance, five assays were developed; one assay for the germination stage, one assay for the germination and seedling stage, and three for the seedling stage. Based on these assays, five chilling tolerance indices were calculated and assessed using 202 O. sativa accessions from the Rice Mini-Core (RMC) collection. Significant differences between RMC accessions made the five indices suitable for genome-wide association study (GWAS) based quantitative trait loci (QTL) mapping. For young seedling stage indices, japonica and indica subspecies clustered into chilling tolerant and chilling sensitive accessions, respectively, while both subspecies had similar low temperature germinability distributions. Indica subspecies were shown to have chilling acclimation potential. GWAS mapping uncovered 48 QTL at 39 chromosome regions distributed across all 12 rice chromosomes. Interestingly, there was no overlap between the germination and seedling stage QTL. Also, 18 QTL and 32 QTL were in regions discovered in previously reported bi-parental and GWAS based QTL mapping studies, respectively. Two novel low temperature seedling survivability (LTSS)-QTL, qLTSS3-4 and qLTSS4-1, were not in a previously reported QTL region. QTL with strong effect alleles identified in this study will be useful for marker assisted breeding efforts to improve chilling tolerance in rice cultivars and enhance gene discovery for chilling tolerance.

  17. Using previously genotyped controls in genome-wide association studies (GWAS: application to the Stroke Genetics Network (SiGN

    Directory of Open Access Journals (Sweden)

    Braxton D Mitchell

    2014-04-01

    Full Text Available Genome-wide association studies (GWAS are widely applied to identify susceptibility loci for a variety of diseases using genotyping arrays that interrogate known polymorphisms throughout the genome. A particular strength of GWAS is that it is unbiased with respect to specific genomic elements (e.g., coding or regulatory regions of genes, and it has revealed important associations that would have never been suspected based on prior knowledge or assumptions. To date, the discovered SNPs associated with complex human traits tend to have small effect sizes, requiring very large sample sizes to achieve robust statistical power. To address these issues, a number of efficient strategies have emerged for conducting GWAS, including combining study results across multiple studies using meta-analysis, collecting cases through electronic health records, and using samples collected from other studies as controls that have already been genotyped and made publicly available (e.g., through deposition of de-identified data into dbGaP or EGA.In certain scenarios, it may be attractive to use already genotyped controls and divert resources to standardized collection, phenotyping, and genotyping of cases only. This strategy, however, requires that careful attention be paid to the choice of public controls and to the comparability of genetic data between cases and the public controls to ensure that any allele frequency differences observed between groups is attributable to locus-specific effects rather than to a systematic bias due to poor matching (population stratification or differential genotype calling (batch effects.The goal of this paper is to describe some of the potential pitfalls in using previously genotyped control data. We focus on considerations related to the choice of control groups, the use of different genotyping platforms, and approaches to deal with population stratification when cases and controls are genotyped across different platforms.

  18. Assessment of Five Chilling Tolerance Traits and GWAS Mapping in Rice Using the USDA Mini-Core Collection

    Science.gov (United States)

    Schläppi, Michael R.; Jackson, Aaron K.; Eizenga, Georgia C.; Wang, Aiju; Chu, Chengcai; Shi, Yao; Shimoyama, Naoki; Boykin, Debbie L.

    2017-01-01

    Rice (Oryza sativa L.) is often exposed to cool temperatures during spring planting in temperate climates. A better understanding of genetic pathways regulating chilling tolerance will enable breeders to develop varieties with improved tolerance during germination and young seedling stages. To dissect chilling tolerance, five assays were developed; one assay for the germination stage, one assay for the germination and seedling stage, and three for the seedling stage. Based on these assays, five chilling tolerance indices were calculated and assessed using 202 O. sativa accessions from the Rice Mini-Core (RMC) collection. Significant differences between RMC accessions made the five indices suitable for genome-wide association study (GWAS) based quantitative trait loci (QTL) mapping. For young seedling stage indices, japonica and indica subspecies clustered into chilling tolerant and chilling sensitive accessions, respectively, while both subspecies had similar low temperature germinability distributions. Indica subspecies were shown to have chilling acclimation potential. GWAS mapping uncovered 48 QTL at 39 chromosome regions distributed across all 12 rice chromosomes. Interestingly, there was no overlap between the germination and seedling stage QTL. Also, 18 QTL and 32 QTL were in regions discovered in previously reported bi-parental and GWAS based QTL mapping studies, respectively. Two novel low temperature seedling survivability (LTSS)–QTL, qLTSS3-4 and qLTSS4-1, were not in a previously reported QTL region. QTL with strong effect alleles identified in this study will be useful for marker assisted breeding efforts to improve chilling tolerance in rice cultivars and enhance gene discovery for chilling tolerance. PMID:28642772

  19. Assessment of Five Chilling Tolerance Traits and GWAS Mapping in Rice Using the USDA Mini-Core Collection

    Directory of Open Access Journals (Sweden)

    Michael R. Schläppi

    2017-06-01

    Full Text Available Rice (Oryza sativa L. is often exposed to cool temperatures during spring planting in temperate climates. A better understanding of genetic pathways regulating chilling tolerance will enable breeders to develop varieties with improved tolerance during germination and young seedling stages. To dissect chilling tolerance, five assays were developed; one assay for the germination stage, one assay for the germination and seedling stage, and three for the seedling stage. Based on these assays, five chilling tolerance indices were calculated and assessed using 202 O. sativa accessions from the Rice Mini-Core (RMC collection. Significant differences between RMC accessions made the five indices suitable for genome-wide association study (GWAS based quantitative trait loci (QTL mapping. For young seedling stage indices, japonica and indica subspecies clustered into chilling tolerant and chilling sensitive accessions, respectively, while both subspecies had similar low temperature germinability distributions. Indica subspecies were shown to have chilling acclimation potential. GWAS mapping uncovered 48 QTL at 39 chromosome regions distributed across all 12 rice chromosomes. Interestingly, there was no overlap between the germination and seedling stage QTL. Also, 18 QTL and 32 QTL were in regions discovered in previously reported bi-parental and GWAS based QTL mapping studies, respectively. Two novel low temperature seedling survivability (LTSS–QTL, qLTSS3-4 and qLTSS4-1, were not in a previously reported QTL region. QTL with strong effect alleles identified in this study will be useful for marker assisted breeding efforts to improve chilling tolerance in rice cultivars and enhance gene discovery for chilling tolerance.

  20. Meta-GWAS and Meta-Analysis of Exome Array Studies Do Not Reveal Genetic Determinants of Serum Hepcidin.

    Science.gov (United States)

    Galesloot, Tessel E; Verweij, Niek; Traglia, Michela; Barbieri, Caterina; van Dijk, Freerk; Geurts-Moespot, Anneke J; Girelli, Domenico; Kiemeney, Lambertus A L M; Sweep, Fred C G J; Swertz, Morris A; van der Meer, Peter; Camaschella, Clara; Toniolo, Daniela; Vermeulen, Sita H; van der Harst, Pim; Swinkels, Dorine W

    2016-01-01

    Serum hepcidin concentration is regulated by iron status, inflammation, erythropoiesis and numerous other factors, but underlying processes are incompletely understood. We studied the association of common and rare single nucleotide variants (SNVs) with serum hepcidin in one Italian study and two large Dutch population-based studies. We genotyped common SNVs with genome-wide association study (GWAS) arrays and subsequently performed imputation using the 1000 Genomes reference panel. Cohort-specific GWAS were performed for log-transformed serum hepcidin, adjusted for age and gender, and results were combined in a fixed-effects meta-analysis (total N 6,096). Six top SNVs (p<5x10-6) were genotyped in 3,821 additional samples, but associations were not replicated. Furthermore, we meta-analyzed cohort-specific exome array association results of rare SNVs with serum hepcidin that were available for two of the three cohorts (total N 3,226), but no exome-wide significant signal (p<1.4x10-6) was identified. Gene-based meta-analyses revealed 19 genes that showed significant association with hepcidin. Our results suggest the absence of common SNVs and rare exonic SNVs explaining a large proportion of phenotypic variation in serum hepcidin. We recommend extension of our study once additional substantial cohorts with hepcidin measurements, GWAS and/or exome array data become available in order to increase power to identify variants that explain a smaller proportion of hepcidin variation. In addition, we encourage follow-up of the potentially interesting genes that resulted from the gene-based analysis of low-frequency and rare variants.

  1. Meta-GWAS and Meta-Analysis of Exome Array Studies Do Not Reveal Genetic Determinants of Serum Hepcidin.

    Directory of Open Access Journals (Sweden)

    Tessel E Galesloot

    Full Text Available Serum hepcidin concentration is regulated by iron status, inflammation, erythropoiesis and numerous other factors, but underlying processes are incompletely understood. We studied the association of common and rare single nucleotide variants (SNVs with serum hepcidin in one Italian study and two large Dutch population-based studies. We genotyped common SNVs with genome-wide association study (GWAS arrays and subsequently performed imputation using the 1000 Genomes reference panel. Cohort-specific GWAS were performed for log-transformed serum hepcidin, adjusted for age and gender, and results were combined in a fixed-effects meta-analysis (total N 6,096. Six top SNVs (p<5x10-6 were genotyped in 3,821 additional samples, but associations were not replicated. Furthermore, we meta-analyzed cohort-specific exome array association results of rare SNVs with serum hepcidin that were available for two of the three cohorts (total N 3,226, but no exome-wide significant signal (p<1.4x10-6 was identified. Gene-based meta-analyses revealed 19 genes that showed significant association with hepcidin. Our results suggest the absence of common SNVs and rare exonic SNVs explaining a large proportion of phenotypic variation in serum hepcidin. We recommend extension of our study once additional substantial cohorts with hepcidin measurements, GWAS and/or exome array data become available in order to increase power to identify variants that explain a smaller proportion of hepcidin variation. In addition, we encourage follow-up of the potentially interesting genes that resulted from the gene-based analysis of low-frequency and rare variants.

  2. Replication of LDL GWAs hits in PROSPER/PHASE as validation for future (pharmaco)genetic analyses

    LENUS (Irish Health Repository)

    Trompet, Stella

    2011-10-06

    Abstract Background The PHArmacogenetic study of Statins in the Elderly at risk (PHASE) is a genome wide association study in the PROspective Study of Pravastatin in the Elderly at risk for vascular disease (PROSPER) that investigates the genetic variation responsible for the individual variation in drug response to pravastatin. Statins lower LDL-cholesterol in general by 30%, however not in all subjects. Moreover, clinical response is highly variable and adverse effects occur in a minority of patients. In this report we first describe the rationale of the PROSPER\\/PHASE project and second show that the PROSPER\\/PHASE study can be used to study pharmacogenetics in the elderly. Methods The genome wide association study (GWAS) was conducted using the Illumina 660K-Quad beadchips following manufacturer\\'s instructions. After a stringent quality control 557,192 SNPs in 5,244 subjects were available for analysis. To maximize the availability of genetic data and coverage of the genome, imputation up to 2.5 million autosomal CEPH HapMap SNPs was performed with MACH imputation software. The GWAS for LDL-cholesterol is assessed with an additive linear regression model in PROBABEL software, adjusted for age, sex, and country of origin to account for population stratification. Results Forty-two SNPs reached the GWAS significant threshold of p = 5.0e-08 in 5 genomic loci (APOE\\/APOC1; LDLR; FADS2\\/FEN1; HMGCR; PSRC1\\/CELSR5). The top SNP (rs445925, chromosome 19) with a p-value of p = 2.8e-30 is located within the APOC1 gene and near the APOE gene. The second top SNP (rs6511720, chromosome 19) with a p-value of p = 5.22e-15 is located within the LDLR gene. All 5 genomic loci were previously associated with LDL-cholesterol levels, no novel loci were identified. Replication in WOSCOPS and CARE confirmed our results. Conclusion With the GWAS in the PROSPER\\/PHASE study we confirm the previously found genetic associations with LDL-cholesterol levels. With this proof

  3. Effects of GWAS-associated genetic variants on lncRNAs within IBD and T1D candidate loci

    DEFF Research Database (Denmark)

    Mirza, Aashiq H; Kaur, Simranjeet; Brorsson, Caroline A

    2014-01-01

    Long non-coding RNAs are a new class of non-coding RNAs that are at the crosshairs in many human diseases such as cancers, cardiovascular disorders, inflammatory and autoimmune disease like Inflammatory Bowel Disease (IBD) and Type 1 Diabetes (T1D). Nearly 90% of the phenotype-associated single......-nucleotide polymorphisms (SNPs) identified by genome-wide association studies (GWAS) lie outside of the protein coding regions, and map to the non-coding intervals. However, the relationship between phenotype-associated loci and the non-coding regions including the long non-coding RNAs (lncRNAs) is poorly understood. Here...

  4. Gene co-expression analysis identifies brain regions and cell types involved in migraine pathophysiology: a GWAS-based study using the Allen Human Brain Atlas.

    Science.gov (United States)

    Eising, Else; Huisman, Sjoerd M H; Mahfouz, Ahmed; Vijfhuizen, Lisanne S; Anttila, Verneri; Winsvold, Bendik S; Kurth, Tobias; Ikram, M Arfan; Freilinger, Tobias; Kaprio, Jaakko; Boomsma, Dorret I; van Duijn, Cornelia M; Järvelin, Marjo-Riitta R; Zwart, John-Anker; Quaye, Lydia; Strachan, David P; Kubisch, Christian; Dichgans, Martin; Davey Smith, George; Stefansson, Kari; Palotie, Aarno; Chasman, Daniel I; Ferrari, Michel D; Terwindt, Gisela M; de Vries, Boukje; Nyholt, Dale R; Lelieveldt, Boudewijn P F; van den Maagdenberg, Arn M J M; Reinders, Marcel J T

    2016-04-01

    Migraine is a common disabling neurovascular brain disorder typically characterised by attacks of severe headache and associated with autonomic and neurological symptoms. Migraine is caused by an interplay of genetic and environmental factors. Genome-wide association studies (GWAS) have identified over a dozen genetic loci associated with migraine. Here, we integrated migraine GWAS data with high-resolution spatial gene expression data of normal adult brains from the Allen Human Brain Atlas to identify specific brain regions and molecular pathways that are possibly involved in migraine pathophysiology. To this end, we used two complementary methods. In GWAS data from 23,285 migraine cases and 95,425 controls, we first studied modules of co-expressed genes that were calculated based on human brain expression data for enrichment of genes that showed association with migraine. Enrichment of a migraine GWAS signal was found for five modules that suggest involvement in migraine pathophysiology of: (i) neurotransmission, protein catabolism and mitochondria in the cortex; (ii) transcription regulation in the cortex and cerebellum; and (iii) oligodendrocytes and mitochondria in subcortical areas. Second, we used the high-confidence genes from the migraine GWAS as a basis to construct local migraine-related co-expression gene networks. Signatures of all brain regions and pathways that were prominent in the first method also surfaced in the second method, thus providing support that these brain regions and pathways are indeed involved in migraine pathophysiology.

  5. SEEA SOUTHEAST CONSORTIUM FINAL TECHNICAL REPORT

    Energy Technology Data Exchange (ETDEWEB)

    Block, Timothy [Southeast Energy Efficiency Alliance; Ball, Kia [Southeast Energy Efficiency Alliance; Fournier, Ashley [Southeast Energy Efficiency Alliance

    2014-01-21

    In 2010 the Southeast Energy Efficiency Alliance (SEEA) received a $20 million Energy Efficiency and Conservation Block Grant (EECBG) under the U.S. Department of Energy’s Better Building Neighborhood Program (BBNP). This grant, funded by the American Recovery and Reinvestment Act, also included sub-grantees in 13 communities across the Southeast, known as the Southeast Consortium. The objective of this project was to establish a framework for energy efficiency retrofit programs to create models for replication across the Southeast and beyond. To achieve this goal, SEEA and its project partners focused on establishing infrastructure to develop and sustain the energy efficiency market in specific localities across the southeast. Activities included implementing minimum training standards and credentials for marketplace suppliers, educating and engaging homeowners on the benefits of energy efficiency through strategic marketing and outreach and addressing real or perceived financial barriers to investments in whole-home energy efficiency through a variety of financing mechanisms. The anticipated outcome of these activities would be best practice models for program design, marketing, financing, data collection and evaluation as well as increased market demand for energy efficiency retrofits and products. The Southeast Consortium’s programmatic impacts along with the impacts of the other BBNP grantees would further the progress towards the overall goal of energy efficiency market transformation. As the primary grantee SEEA served as the overall program administrator and provided common resources to the 13 Southeast Consortium sub-grantees including contracted services for contractor training, quality assurance testing, data collection, reporting and compliance. Sub-grantee programs were located in cities across eight states including Alabama, Florida, Georgia, Louisiana, North Carolina, South Carolina, Tennessee, Virginia and the U.S. Virgin Islands. Each sub

  6. Establishing an International Soil Modelling Consortium

    Science.gov (United States)

    Vereecken, Harry; Schnepf, Andrea; Vanderborght, Jan

    2015-04-01

    -change-feedback processes, bridge basic soil science research and management, and facilitate the communication between science and society . To meet these challenges an international community effort is required, similar to initiatives in systems biology, hydrology, and climate and crop research. We therefore propose to establish an international soil modelling consortium with the aims of 1) bringing together leading experts in modelling soil processes within all major soil disciplines, 2) addressing major scientific gaps in describing key processes and their long term impacts with respect to the different functions and ecosystem services provided by soil, 3) intercomparing soil model performance based on standardized and harmonized data sets, 4) identifying interactions with other relevant platforms related to common data formats, protocols and ontologies, 5) developing new approaches to inverse modelling, calibration, and validation of soil models, 6) integrating soil modelling expertise and state of the art knowledge on soil processes in climate, land surface, ecological, crop and contaminant models, and 7) linking process models with new observation, measurement and data evaluation technologies for mapping and characterizing soil properties across scales. Our consortium will bring together modelers and experimental soil scientists at the forefront of new technologies and approaches to characterize soils. By addressing these aims, the consortium will contribute to improve the role of soil modeling as a knowledge dissemination instrument in addressing key global issues and stimulate the development of translational research activities. This presentation will provide a compelling case for this much-needed effort, with a focus on tangible benefits to the scientific and food security communities.

  7. Consortium for Petroleum & Natural Gas Stripper Wells

    Energy Technology Data Exchange (ETDEWEB)

    Morrison, Joel [Pennsylvania State Univ., University Park, PA (United States)

    2011-12-01

    The United States has more oil and gas wells than any other country. As of December 31, 2004, there were more than half a million producing oil wells in the United States. That is more than three times the combined total for the next three leaders: China, Canada, and Russia. The Stripper Well Consortium (SWC) is a partnership that includes domestic oil and gas producers, service and supply companies, trade associations, academia, the Department of Energy’s Strategic Center for Natural Gas and Oil (SCNGO) at the National Energy Technology Laboratory (NETL), and the New York State Energy Research and Development Authority (NYSERDA). The Consortium was established in 2000. This report serves as a final technical report for the SWC activities conducted over the May 1, 2004 to December 1, 2011 timeframe. During this timeframe, the SWC worked with 173 members in 29 states and three international countries, to focus on the development of new technologies to benefit the U.S. stripper well industry. SWC worked with NETL to develop a nationwide request-for-proposal (RFP) process to solicit proposals from the U.S. stripper well industry to develop and/or deploy new technologies that would assist small producers in improving the production performance of their stripper well operations. SWC conducted eight rounds of funding. A total of 132 proposals were received. The proposals were compiled and distributed to an industry-driven SWC executive council and program sponsors for review. Applicants were required to make a formal technical presentation to the SWC membership, executive council, and program sponsors. After reviewing the proposals and listening to the presentations, the executive council made their funding recommendations to program sponsors. A total of 64 projects were selected for funding, of which 59 were fully completed. Penn State then worked with grant awardees to issue a subcontract for their approved work. SWC organized and hosted a total of 14 meetings

  8. Multi-University Southeast INIE Consortium

    Energy Technology Data Exchange (ETDEWEB)

    Ayman Hawari; Nolan Hertel; Mohamed Al-Sheikhly; Laurence Miller; Abdel-Moeze Bayoumi; Ali Haghighat; Kenneth Lewis

    2010-12-29

    2 Project Summary: The Multi-University Southeast INIE Consortium (MUSIC) was established in response to the US Department of Energy’s (DOE) Innovations in Nuclear Infrastructure and Education (INIE) program. MUSIC was established as a consortium composed of academic members and national laboratory partners. The members of MUSIC are the nuclear engineering programs and research reactors of Georgia Institute of Technology (GIT), North Carolina State University (NCSU), University of Maryland (UMD), University of South Carolina (USC), and University of Tennessee (UTK). The University of Florida (UF), and South Carolina State University (SCSU) were added to the MUSIC membership in the second year. In addition, to ensure proper coordination between the academic community and the nation’s premier research and development centers in the fields of nuclear science and engineering, MUSIC created strategic partnerships with Oak Ridge National Laboratory (ORNL) including the Spallation Neutron Source (SNS) project and the Joint Institute for Neutron Scattering (JINS), and the National Institute of Standards and Technology (NIST). A partnership was also created with the Armed Forces Radiobiology Research Institute (AFRRI) with the aim of utilizing their reactor in research if funding becomes available. Consequently, there are three university research reactors (URRs) within MUSIC, which are located at NCSU (1-MW PULSTAR), UMD (0.25-MW TRIGA) and UF (0.10-MW Argonaut), and the AFRRI reactor (1-MW TRIGA MARK F). The overall objectives of MUSIC are: a) Demonstrate that University Research Reactors (URR) can be used as modern and innovative instruments of research in the basic and applied sciences, which include applications in fundamental physics, materials science and engineering, nondestructive examination, elemental analysis, and contributions to research in the health and medical sciences, b) Establish a strong technical collaboration between the nuclear engineering

  9. Psychiatric conditions associated with bullying.

    Science.gov (United States)

    Kumpulainen, Kirsti

    2008-01-01

    Bullying is a complex phenomenon moderated not only by the personal characteristics and behavioral traits of the individual but also by family rearing practices, as well as by situational factors such as the frequency and type of bullying. The phenomenon is also affected by group processes among the individuals present during the event. Bullying is a distressing experience that is often continuous over years and predicts both concurrent and future psychiatric symptoms and disorders, even in adulthood. At young ages, attention-deficit hyperactivity disorder and depression, as well as anxiety, are prevalent concurrently with bullying among the children involved. Later in young adulthood, male victims are at risk for anxiety, male bullies for personality disorders, and male bully-victims for both personality disorders and anxiety, and the risk is especially increased if the child is disturbed when involved in bullying at school age. Rarely does any single behavior predict future problems as clearly as bullying does, and additional assessment of psychiatric problems is always warranted, if the child is involved in bullying as a bully, victim or bully-victim. Based on our current knowledge, school-based interventions regulating the behavior of the child, increasing pro-social skills and promoting peer relationships are recommended for those without concurrent psychiatric disturbance, but those displaying psychiatric symptoms and disorders should be referred for psychiatric consultation and intervention.

  10. OCCUPATIONAL ROLE AFTER PSYCHIATRIC HOSPITALIZATION

    Directory of Open Access Journals (Sweden)

    GH.R GHASSEMI

    2003-03-01

    Full Text Available Introduction: Severe Psychiatricillness is accompanied by gross disturbances in patient's occupational role. This study presents a comparative picture of work performance before and after psychiatric hospitalization. Method: Subjects comprised 440 psychiatric admitters from Noor Medical center - Isfahan - Iran, who were followed from November 1999 to November 2000. Their work adjustment was measured by means of Weiss man's index. Data were computer analyzed using SPSS by running paired t- student and ANOVA. Results: Majority of the patients (53 % were without permanent sources of income before psychiatric hospitalization, about 12 percent of those who were working prior to hospitalization lost their job after being discharged from hospital. Better work adjustment before hospitalization was positively correlated with better work adjustment after discharge for working patients (r =0/66. Working ability of the patients after discharge was lesser than before the attack f9r patients with regular and irregular job (P < 001. Discussion: Job loss or poor working ability after psychiatric admission reported by several researchers and has bean confirmed in this study as well. These observatoins have been discussed in view of the current socio economic problems in the society and nature of psychiatric disturbances.

  11. A GWAS Study on Liver Function Test Using eMERGE Network Participants.

    Directory of Open Access Journals (Sweden)

    Bahram Namjou

    Full Text Available Liver enzyme levels and total serum bilirubin are under genetic control and in recent years genome-wide population-based association studies have identified different susceptibility loci for these traits. We conducted a genome-wide association study in European ancestry participants from the Electronic Medical Records and Genomics (eMERGE Network dataset of patient medical records with available genotyping data in order to identify genetic contributors to variability in serum bilirubin levels and other liver function tests and to compare the effects between adult and pediatric populations.The process of whole genome imputation of eMERGE samples with standard quality control measures have been described previously. After removing missing data and outliers based on principal components (PC analyses, 3294 samples from European ancestry were used for the GWAS study. The association between each single nucleotide polymorphism (SNP and total serum bilirubin and other liver function tests was tested using linear regression, adjusting for age, gender, site, platform and ancestry principal components (PC.Consistent with previous results, a strong association signal has been detected for UGT1A gene cluster (best SNP rs887829, beta = 0.15, p = 1.30x10-118 for total serum bilirubin level. Indeed, in this region more than 176 SNPs (or indels had p<10-8 spanning 150Kb on the long arm of chromosome 2q37.1. In addition, we found a similar level of magnitude in a pediatric group (p = 8.26x10-47, beta = 0.17. Further imputation using sequencing data as a reference panel revealed association of other markers including known TA7 repeat indels (rs8175347 (p = 9.78x10-117 and rs111741722 (p = 5.41x10-119 which were in proxy (r2 = 0.99 with rs887829. Among rare variants, two Asian subjects homozygous for coding SNP rs4148323 (G71R were identified. Additional known effects for total serum bilirubin were also confirmed including organic anion transporters SLCO1B1-SLCO1B

  12. Comprehensive Computational Analysis of GWAS Loci Identifies CCR2 as a Candidate Gene for Celiac Disease Pathogenesis.

    Science.gov (United States)

    Banaganapalli, Babajan; Rashidi, Omran; Saadah, Omar I; Wang, Jun; Khan, Imran Ali; Al-Aama, Jumana Y; Shaik, Noor Ahmad; Elango, Ramu

    2017-08-01

    Celiac disease (CD) is a gluten intolerance disorder with known genetic contribution. The recent fine mapping and genome-wide association studies (GWAS) have identified up to 57 non-HLA CD susceptibility SNPs, majority of which are non-coding variants lacking any functional annotation. Therefore, we adopted multidimensional computational approach for uncovering the plausible mechanisms through which these GWAS SNPs are connected to CD pathogenesis. At initial phase, we identified that 25 (43.85%) out of 57 CD-SNPs lies in evolutionarily constrained genetic element regions. In follow-up phases, through computational (CADD, GWAVA, and FATHMM algorithms) deleterious intensity measurements, we have discovered that 42 (3.94%) out of 1065 variants (57 CD-lead and 1008-linked SNPs; r(2)  ≥ 0.8) are differentially deleterious in nature to CD. Further functional scrutinization of these CD variants by public domain eQTL mapping, gene expression, knockout mouse model, and pathway analyses revealed that deleterious SNPs of CCR2 gene influences its expression levels and may also elicit a cascade of T-cell-mediated immunological events leading to intestinal gluten intolerance in genetically susceptible individuals. This study demonstrates the utility of integrated in silico analysis of annotations, gene expression, and pathways in prioritizing the potential complex disease variants from large-scale open source genomic data. J. Cell. Biochem. 118: 2193-2207, 2017. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

  13. Replicated association between the European GWAS locus rs10503253 at CSMD1 and schizophrenia in Asian population.

    Science.gov (United States)

    Liu, Weiqing; Liu, Fang; Xu, Xiufeng; Bai, Yan

    2017-04-24

    Schizophrenia is one of the most severe mental disorders with significant heritability. Recent genetic association studies including genome-wide association studies (GWAS) have identified multiple common variants conferring risk of schizophrenia. An intronic SNP within CSMD1, rs10503253, is one of the top risk SNPs for schizophrenia in Europeans discovered through large GWAS. However, whether rs10503253 is also a risk SNP for schizophrenia in other populations, such as Asians, is still unknown. To answer this question, we examined the association of rs10503253 with schizophrenia in a total of 7514 schizophrenia patients, 9058 healthy controls and 1115 nuclear families originated from Asia using a meta-analytic approach. In the meta-analysis of all the samples, we confirmed the association of rs10503253 A-allele with schizophrenia in Asian population (P-value=0.0093, odds ratio=1.062, 95% confidence interval=1.015-1.111), and no genetic heterogeneity between individual samples (P=0.810) was observed. Using the "Leave-one-out" sensitivity analysis, we further confirmed the association between rs10503253 and schizophrenia. These data show that rs10503253 is likely a common schizophrenia risk variant in multiple ethnic groups, and further studies regarding the underlying molecular mechanisms are needed. Copyright © 2017 Elsevier B.V. All rights reserved.

  14. Moral learning in psychiatric rehabilitation.

    Science.gov (United States)

    Sitvast, J E; Widdershoven, G A M; Abma, T A

    2011-07-01

    The purpose of this article is to illustrate moral learning in persons with a psychiatric disability who participated in a nursing intervention, called the photo-instrument. This intervention is a form of hermeneutic photography. The findings are based on a multiple case study of 42 patients and additional interviews with eight of them. Photo groups were organized within three settings of psychiatric services: ambulatory as well as clinical, all situated in the Netherlands. Data were analysed according to hermeneutic and semiotic principles. Two cases are presented. Findings show that voice and face are concepts that help to identify elements of moral learning in the rehabilitation process of persons with a psychiatric disability. During the process patients become more aware of their responsibilities towards themselves and others.

  15. Transposable elements and psychiatric disorders.

    Science.gov (United States)

    Guffanti, Guia; Gaudi, Simona; Fallon, James H; Sobell, Janet; Potkin, Steven G; Pato, Carlos; Macciardi, Fabio

    2014-04-01

    Transposable Elements (TEs) or transposons are low-complexity elements (e.g., LINEs, SINEs, SVAs, and HERVs) that make up to two-thirds of the human genome. There is mounting evidence that TEs play an essential role in genomic architecture and regulation related to both normal function and disease states. Recently, the identification of active TEs in several different human brain regions suggests that TEs play a role in normal brain development and adult physiology and quite possibly in psychiatric disorders. TEs have been implicated in hemophilia, neurofibromatosis, and cancer. With the advent of next-generation whole-genome sequencing approaches, our understanding of the relationship between TEs and psychiatric disorders will greatly improve. We will review the biology of TEs and early evidence for TE involvement in psychiatric disorders. © 2014 Wiley Periodicals, Inc.

  16. CEPH consortium map of chromosome 9

    Energy Technology Data Exchange (ETDEWEB)

    Attwood, J.; Povey, S. (University College, London (United Kingdom)); Chiano, M.; Goudie, D.; Yates, J. (Cambridge Univ. (United Kingdom)); Collins, A.; Shields, D. (Princess Anne Hospital, Southampton (United Kingdom)); Donis-Keller, H. (Washington Univ. School of Medicine, St. Louis, MO (United States)); Dracopoli, N. (National Institutes of Health, Bethesda, MD (United States)); Fountain, J. (Massachusetts Institute of Technology, Cambridge (United States)) (and others)

    1994-01-15

    This paper describes the Centre d'Etude du Polymorphisme Humain (CEPH) consortium linkage map of chromosome 9. A total of 124 markers were typed in the CEPH family DNAs by 14 contributing laboratories; of these, 42 loci are ordered on the map with likelihood support of at least 1000:1. The uniquely placed markers include 31 that can be typed by PCR. A further 28 markers that can be typed by PCR are approximately positioned on the map. Multilocus linkage analysis with CRI-MAP has produced male, female, and sex-averaged maps extending for 176, 237, and 209 cM, respectively, while sex-averaged maps produced with MAPMAKER and the multiple two-point program MAP extended for 170 and 129 cM, respectively. The male map contains only two intervals greater than 10 cM, and the mean genetic distance between the 42 uniquely placed loci is 4.3 cM. However, no markers were available to anchor the map at either telomere or the centromere. The results confirm the high level of interference suggested by chiasma maps of chromosome 9. Detailed meiotic breakpoints for three of the families are shown. These can be used to provide rapid placement of any new marker without the need for statistical analysis. 36 refs., 6 figs., 6 tabs.

  17. CEPH consortium Map of chromosome 9.

    Science.gov (United States)

    Attwood, J; Chiano, M; Collins, A; Donis-Keller, H; Dracopoli, N; Fountain, J; Falk, C; Goudie, D; Gusella, J; Haines, J

    1994-01-15

    This paper describes the Centre d'Etude du Polymorphisme Humain (CEPH) consortium linkage map of chromosome 9. A total of 124 markers were typed in the CEPH family DNAs by 14 contributing laboratories; of these, 42 loci are ordered on the map with likelihood support of at least 1000:1. The uniquely placed markers include 31 that can be typed by PCR. A further 28 markers that can be typed by PCR are approximately positioned on the map. Multilocus linkage analysis with CRI-MAP has produced male, female, and sex-averaged maps extending for 176, 237, and 209 cM, respectively, while sex-averaged maps produced with MAPMAKER and the multiple two-point program MAP extended for 170 and 129 cM, respectively. The male map contains only two intervals greater than 10 cM, and the mean genetic distance between the 42 uniquely placed loci is 4.3 cM. However, no markers were available to anchor the map at either telomere or the centromere. The results confirm the high level of interference suggested by chiasma maps of chromosome 9. Detailed meiotic breakpoints for three of the families are shown. These can be used to provide rapid placement of any new marker without the need for statistical analysis.

  18. AGRICOH: A Consortium of Agricultural Cohorts

    Science.gov (United States)

    Leon, Maria E.; Beane Freeman, Laura E.; Douwes, Jeroen; Hoppin, Jane A.; Kromhout, Hans; Lebailly, Pierre; Nordby, Karl-Christian; Schenker, Marc; Schüz, Joachim; Waring, Stephen C.; Alavanja, Michael C.R.; Annesi-Maesano, Isabella; Baldi, Isabelle; Dalvie, Mohamed Aqiel; Ferro, Giles; Fervers, Béatrice; Langseth, Hilde; London, Leslie; Lynch, Charles F.; McLaughlin, John; Merchant, James A.; Pahwa, Punam; Sigsgaard, Torben; Stayner, Leslie; Wesseling, Catharina; Yoo, Keun-Young; Zahm, Shelia H.; Straif, Kurt; Blair, Aaron

    2011-01-01

    AGRICOH is a recently formed consortium of agricultural cohort studies involving 22 cohorts from nine countries in five continents: South Africa (1), Canada (3), Costa Rica (2), USA (6), Republic of Korea (1), New Zealand (2), Denmark (1), France (3) and Norway (3). The aim of AGRICOH, initiated by the US National Cancer Institute (NCI) and coordinated by the International Agency for Research on Cancer (IARC), is to promote and sustain collaboration and pooling of data to investigate the association between a wide range of agricultural exposures and a wide range of health outcomes, with a particular focus on associations that cannot easily be addressed in individual studies because of rare exposures (e.g., use of infrequently applied chemicals) or relatively rare outcomes (e.g., certain types of cancer, neurologic and auto-immune diseases). To facilitate future projects the need for data harmonization of selected variables is required and is underway. Altogether, AGRICOH provides excellent opportunities for studying cancer, respiratory, neurologic, and auto-immune diseases as well as reproductive and allergic disorders, injuries and overall mortality in association with a wide array of exposures, prominent among these the application of pesticides. PMID:21655123

  19. Astroparticle Physics European Consortium Town Meeting Conference

    CERN Document Server

    2016-01-01

    The Astroparticle Physics European Consortium (APPEC) invites you to a town meeting at the Grand Amphithéatre de Sorbonne in Paris on the 6th and 7th April 2016 to discuss an update of the 2011 APPEC Astroparticle Physics roadmap, to be published in September 2016. In 2014 APPEC decided to launch an update of the 2011 Roadmap, transforming it to a “resource aware” roadmap. The intention was to gauge the financial impact of the beginnings of operation of the large global scale observatories put forward in the previous roadmap and to examine the possibilities of international coordination of future global initiatives. The APPEC Scientific Advisory Committee examined the field and prepared a set of recommendations. Based on these recommendations, the APPEC General Assembly drafted a set of “considerations” to be published by end of February 2016 and be debated in an open dialogue with the community, through the web page but primarily at the town meeting of 6-7 April. Based on this debate the final re...

  20. National Consortium Supports Cities in Evaluating LED Streetlights

    Energy Technology Data Exchange (ETDEWEB)

    None

    2013-09-30

    Fact sheet that introduces Municipal Solid-State Street Lighting Consortium, a group of municipalities, utilities, and energy efficiency organizations who are interested in making investments in LED street and area lighting.

  1. Epidemiology of Endometrial Cancer Consortium (E2C2)

    Science.gov (United States)

    The Epidemiology of Endometrial Cancer Consortium studies the etiology of this common cancer and build on resources from existing studies by combining data across studies in order to advance the understanding of the etiology of this disease.

  2. Genomics era and complex disorders: Implications of GWAS with special reference to coronary artery disease, type 2 diabetes mellitus, and cancers

    Directory of Open Access Journals (Sweden)

    R Pranavchand

    2016-01-01

    Full Text Available The Human Genome Project (HGP has identified millions of single nucleotide polymorphisms (SNPs and their association with several diseases, apart from successfully characterizing the Mendelian/monogenic diseases. However, the dissection of precise etiology of complex genetic disorders still poses a challenge for human geneticists. This review outlines the landmark results of genome-wide association studies (GWAS with respect to major complex diseases - Coronary artery disease (CAD, type 2 diabetes mellitus (T2DM, and predominant cancers. A brief account on the current Indian scenario is also given. All the relevant publications till mid-2015 were accessed through web databases such as PubMed and Google. Several databases providing genetic information related to these diseases were tabulated and in particular, the list of the most significant SNPs identified through GWAS was made, which may be useful for designing studies in functional validation. Post-GWAS implications and emerging concepts such as epigenomics and pharmacogenomics were also discussed.

  3. Psychiatric Adverse Effects of Dermatological Drugs

    Directory of Open Access Journals (Sweden)

    Mine Özmen

    2010-07-01

    Full Text Available Dermatological drugs, mostly corticosteroids and isotretinoin, cause different psychiatric adverse effects. During steroid therapy, a wide range of psychiatric conditions, from minor clinical symptoms like insomnia and anxiety to serious psychiatric syndromes like psychosis and delirium might be seen. In medical literature, a causal connection is usually suggested between “isotretinoin”, which is used for treatment of acne vulgaris and depression and suicide attempts. However, there are no statistically significant double-blind randomized studies that support this connection. Clinicians must know patient’s psychiatric history before using any dermatological treatment known as causing psychiatric adverse effects, and psychiatric consultation should be established whenever necessary.

  4. Suicide among older psychiatric inpatients

    DEFF Research Database (Denmark)

    Erlangsen, Annette; Zarit, Steven H; Tu, Xin

    2006-01-01

    characteristics. RESULTS: Affective disorders were found to be associated with an almost twofold higher risk of suicide among psychiatric inpatients than other types of disorders (95% confidence interval [CI]: 1.5-2.6). Patients with dementia had a significantly lower risk ratio of 0.2 (95% CI: 0......OBJECTIVE: Older adults have elevated suicide rates, especially in the presence of a psychiatric disorder, yet not much is known about predictors for suicide within this high-risk group. The current study examines the characteristics associated with suicide among older adults who are admitted...

  5. DoD Alcohol and Substance Abuse Consortium Award

    Science.gov (United States)

    2017-10-01

    DoD Alcohol and Substance Abuse Consortium Award Annual Report 5b. GRANT NUMBER 5c. PROGRAM ELEMENT NUMBER 6. AUTHOR (S) 5d. PROJECT NUMBER...Award Number: W81XWH-15-2-0077 TITLE: DoD Alcohol and Substance Abuse Consortium Award PRINCIPAL INVESTIGATOR: Rick Williams CONTRACTING...views, opinions and/or findings contained in this report are those of the author (s) and should not be construed as an official Department of the Army

  6. Prostate Cancer Clinical Consortium Clinical Research Site:Targeted Therapies

    Science.gov (United States)

    2015-10-01

    targeted therapy on the efficacy of cabazitaxel in men with metastatic castration-resistant prostate cancer R. Van Soest1, A. Nieuweboer2, E. De...AWARD NUMBER: W81XWH-14-2-0159 TITLE: Prostate Cancer Clinical Consortium Clinical Research Site: Targeted Therapies PRINCIPAL INVESTIGATOR...Sep 2015 4. TITLE AND SUBTITLE 5a. CONTRACT NUMBER Prostate Cancer Clinical Consortium Clinical Research Site: Targeted Therapies 5b. GRANT NUMBER

  7. [Social psychiatric service as a cornerstone of psychiatric community care].

    Science.gov (United States)

    Hoffmann, P; Tiggemann, H G

    1991-12-01

    Psychiatric care has gradually been shifting in Germany from its original inpatient basis to outpatient and complementary treatment. This shift of emphasis resulted in a transfer of psychiatry-political responsibility to communal bodies and hence also to communal public health services. Sociopsychiatric service ranks high in communal psychiatric care setups, since it promotes cooperation and helps to coordinate efforts in individual cases in respect of focal points on which such care is centered. For the future, an expert commission has suggested that the various institutions actively engaged in community psychiatric care should team up in each region. This applies in particular to mobile services visiting the patients in their homes, and to the offices providing contracts to sociopsychiatric services of public health offices. Despite positive outlooks there are also quite a few negative aspects of present-day practice. One of them is poor definition of tasks and functions of communal sociopsychiatric services, whereas another one are the unsatisfactory quantitative and qualitative means at their disposal. It is also too often overlooked that psychiatric patients and disabled persons are entitled to compensation insurance payments to promote their rehabilitation, as provided for by individual legislation in the various German laender. To tap these sources sufficiently well, sociopsychiatric services must be better equipped in every respect. The professional competence of social workers and physicians, as well as of the relevant staff, must be safeguarded by continuing education and specialist training measures.

  8. A GWAS follow-up study reveals the association of the IL12RB2 gene with systemic sclerosis in Caucasian populations

    Science.gov (United States)

    Bossini-Castillo, Lara; Martin, Jose-Ezequiel; Broen, Jasper; Gorlova, Olga; Simeón, Carmen P.; Beretta, Lorenzo; Vonk, Madelon C.; Luis Callejas, Jose; Castellví, Ivan; Carreira, Patricia; José García-Hernández, Francisco; Fernández Castro, Mónica; Coenen, Marieke J.H.; Riemekasten, Gabriela; Witte, Torsten; Hunzelmann, Nicolas; Kreuter, Alexander; Distler, Jörg H.W.; Koeleman, Bobby P.; Voskuyl, Alexandre E.; Schuerwegh, Annemie J.; Palm, Øyvind; Hesselstrand, Roger; Nordin, Annika; Airó, Paolo; Lunardi, Claudio; Scorza, Raffaella; Shiels, Paul; van Laar, Jacob M.; Herrick, Ariane; Worthington, Jane; Denton, Christopher; Tan, Filemon K.; Arnett, Frank C.; Agarwal, Sandeep K.; Assassi, Shervin; Fonseca, Carmen; Mayes, Maureen D.; Radstake, Timothy R.D.J.; Martin, Javier

    2012-01-01

    A single-nucleotide polymorphism (SNP) at the IL12RB2 locus showed a suggestive association signal in a previously published genome-wide association study (GWAS) in systemic sclerosis (SSc). Aiming to reveal the possible implication of the IL12RB2 gene in SSc, we conducted a follow-up study of this locus in different Caucasian cohorts. We analyzed 10 GWAS-genotyped SNPs in the IL12RB2 region (2309 SSc patients and 5161 controls). We then selected three SNPs (rs3790567, rs3790566 and rs924080) based on their significance level in the GWAS, for follow-up in an independent European cohort comprising 3344 SSc and 3848 controls. The most-associated SNP (rs3790567) was further tested in an independent cohort comprising 597 SSc patients and 1139 controls from the USA. After conditional logistic regression analysis of the GWAS data, we selected rs3790567 [PMH= 1.92 × 10−5 odds ratio (OR) = 1.19] as the genetic variant with the firmest independent association observed in the analyzed GWAS peak of association. After the first follow-up phase, only the association of rs3790567 was consistent (PMH= 4.84 × 10−3 OR = 1.12). The second follow-up phase confirmed this finding (Pχ2 = 2.82 × 10−4 OR = 1.34). After performing overall pooled-analysis of all the cohorts included in the present study, the association found for the rs3790567 SNP in the IL12RB2 gene region reached GWAS-level significant association (PMH= 2.82 × 10−9 OR = 1.17). Our data clearly support the IL12RB2 genetic association with SSc, and suggest a relevant role of the interleukin 12 signaling pathway in SSc pathogenesis. PMID:22076442

  9. Paraphilias in adult psychiatric inpatients.

    Science.gov (United States)

    Marsh, Patrick J; Odlaug, Brian L; Thomarios, Nick; Davis, Andrew A; Buchanan, Stephanie N; Meyer, Craig S; Grant, Jon E

    2010-05-01

    The goal of the present study was to examine the prevalence of paraphilias in an adult inpatient psychiatric population. One hundred twelve consecutive, voluntarily admitted, adult male psychiatric inpatients were administered the Structured Clinical Interview for DSM-IV, Sexual Disorders Module, Male Version, to assess the rates of DSM-IV paraphilias. Fifteen patients (13.4%) reported symptoms consistent with at least one lifetime DSM-IV paraphilia. The most common paraphilias were voyeurism (n = 9 [8.0%]), exhibitionism (n = 6 [5.4%]), and sexual masochism (n = 3 [2.7%]). Patients who screened positive for a paraphilia had significantly more psychiatric hospitalizations (P = .006) and, on a trend level, were more likely to have attempted suicide. In addition, patients with paraphilias were significantly more likely to report having been sexually abused than patients without a paraphilia (P = paraphilia. Paraphilias appear to be more common in adult male psychiatric inpatients than previously estimated. The study also demonstrated that these disorders were not screened for by the treating physician and thus may go untreated. Further, larger-scale studies are necessary in order to further examine the rates of these disorders in the general population.

  10. Genetic counseling for psychiatric disorders.

    Science.gov (United States)

    Tsuang, D W; Faraone, S V; Tsuang, M T

    2001-04-01

    Like other medical conditions, some psychiatric disorders are inherited, whereas others are not. Human genetics research is moving at a rapid pace. Genes for over 450 genetic disorders have been cloned and many disease-causing mutations have also been identified. The explosion of this new knowledge has created many new exciting opportunities in the diagnosis of these heritable disorders. The rapid pace of gene discovery will aid the identification of susceptibility genes for psychiatric disorders. Indeed, we can look forward to answers to many clinical and research questions. These are some of the gifts that the expanding field of human genetics research will continue to bring to medical science. However, as genetic tests for the detection of psychiatric disorders become available, many ethical, legal, and social implications will need to be considered. In this article, we review the principles of genetic counseling for psychiatric disorders, as well as the social and ethical dilemmas that genetic testing may bring. Although medical and scientific advances may bring many gifts, we should approach this new knowledge with caution, as one of the gifts may be a Pandora's box.

  11. Moral learning in psychiatric rehabilitation

    NARCIS (Netherlands)

    Sitvast, J.E.; Widdershoven, G.G.A.M.; Abma, T.A.

    2011-01-01

    The purpose of this article is to illustrate moral learning in persons with a psychiatric disability who participated in a nursing intervention, called the photo-instrument. This intervention is a form of hermeneutic photography. The findings are based on a multiple case study of 42 patients and

  12. Therapeutic abortion on psychiatric grounds

    African Journals Online (AJOL)

    1983-04-23

    Apr 23, 1983 ... those with psychiatric disorder; severe reactive depression was found in 27,5% and 50% were considered to have personality disorders sufficient to be identified as pathological. Such assessments were based on a record of longstanding neurotic or habitually maladaptive behaviour characterized by ...

  13. Predictors of psychiatric readmissions to

    African Journals Online (AJOL)

    identification of early symptoms of relapse, application of immediate and appropriate measures, and adequate record-keeping by health institutions are ... hospitalization, resulting from the policy of de-institutionalization in. Nigeria has led to ..... adolescent psychiatric care Aust N Z ] Psychiatry 2005; 39: 600-606. 3. vaett C.

  14. Dyspepsia in chronic psychiatric patients

    NARCIS (Netherlands)

    Mookhoek, E.J.; Meijs, V.M.M.; Loonen, A.J.M.; Leufkens, H.G.M.

    2005-01-01

    Introduction: We report on dyspeptic complaints among patients hospitalized in the long-stay ward of a general psychiatric hospital. Methods: A representative sample of the patients was interviewed using a structured questionnaire. Results: Eighty percent of the patients reported one or more

  15. The National Astronomy Consortium (NAC) - Overview

    Science.gov (United States)

    Sheth, Kartik; Mills, Elisabeth A. C.; Hooper, Eric; National Astronomy Consortium

    2015-01-01

    The National Astronomy Consortium (NAC; see https://sites.google.com/site/nraonac/) is a growing national partnership between majority and minority universities and institutions with the goal of increasing the numbers of under-represented minorities and students who might otherwise be overlooked by the traditional academic pipeline into STEM, or related, careers. The NAC model is based on the successful 'Posse Foundation' model for undergraduate success and incorporates all its major components: pre-training of cohorts to prepare them for the research experience, joint weekly cohort activities throughout the research summer, peer- and multiple mentoring, weekly discussion of various aspects of professional and career development, continued engagement of students in science after return to home institution and lifelong mentoring. The mentors also form a cohort, exchanging information and learning from each other. With its partner institutions, the NAC aims to build a complete pipeline from undergraduate through career for the next generation of scientists and engineers. Our annual goal is to create two to three cohorts of four to five students at each site (currently NRAO-Charlottesville, NRAO-Socorro and U. Wisconsin - Madison). Recruitment occurs in the fall semester with seminars and colloquia in partnership with faculty at the minority serving institutions and the GRAD-MAP program at the University of Maryland. In this talk we describe in detail all the components of the NAC and report on our progress. We are keen to interact and partner with new universities and institutions and encourage them to contact the NAC at nac4stem@googlegroups.com.

  16. Antioxidant activity of the probiotic consortium in vitro

    Directory of Open Access Journals (Sweden)

    Saule Saduakhasova

    2014-01-01

    Full Text Available Introduction: Available evidence suggests that probiotics have different biological functions that depend on several mechanisms, such as antioxidant and DNA-protective activities. The probiotic consortium includes bacterial cultures such as Streptococcus thermophilus, Lactococcus lactis, Lactobacillus plantarum, and other bacterial cultures isolated from traditional Kazakh dairy products (ayran, kumys, shubat, and healthy clinical material. The aim of this study was to investigate the total antioxidant activity of the consortium of probiotic bacteria and to determine the activity of superoxide dismutase, glutathione reductase, and DNA-protective action. Material and methods: In vitro comet assay was used to determine the antigenotoxicity of the probiotic consortium. Total antioxidant activity was determined using a method of analysis with Trolox as the equivalent. The analysis method of superoxide dismutase activity assesses the inhibition rate of the nitroblue tetrazolium reduction to formazan by superoxide dismutase. Determination of glutathione reductase activity is based on the measurement of the NADPH oxidation speed. Results: A significantly high level of the total antioxidant activity of the probiotic consortium intact cells (15.3 mM/ml was observed whereas the activity index of  lysate  was 11.1 mM/ml. The superoxide dismutase activity of probiotic consortium lysate was evaluated, with values that peaked at 0.24 U/mg protein. The superoxide dismutase activity of the consortium was lower in comparison to L.fernentum E-3 and L.fernentum E-18 cultures with values of 0.85 U/mg and 0.76 U/mg protein, respectively. SOD activity of probiotic consortium whole cells was not observed, which is typical for lactic acid bacteria. Glutathione reductase plays an important role in the optimal protection from oxidative stress. Glutathione reductase activity of the studied probiotic consortium was low; moreover, the activity of the lysate was two times

  17. Psychiatric disorders after radiation exposure

    Energy Technology Data Exchange (ETDEWEB)

    Kokai, Masahiro [Hyogo Coll. of Medicine, Nishinomiya (Japan); Soejima, Toshinori; Wang, Shangdong; Shinfuku, Naotaka

    2001-04-01

    This review focuses on the mental and psychological effects of medical radiation exposure, the nuclear accident at Three Mile Island, the Chernobyl disaster, atomic bomb explosions at Nagasaki and Hiroshima, and accidents at nuclear power plants and nuclear waste plants. Studies have shown that anxiety about the adverse effects of radiation in medicine (such as infertility, carcinogenicity, and genotoxicity) and fear for exposure has caused psychiatric disorders. Several studies on the mental health effects of the nuclear accident at Three Mile Island were conducted, and the results indicated that psychiatric distress persisted for a certain period of time, particularly in pregnant women and women who have children, even when no evidence of substantial of radiation exposure is seen clinically. The psychological consequences of the Chernobyl disaster have been investigated continuously, and various problems, e.g., acute stress reaction, neurosis, and psychosis, have been identified, although no physical damage due to the radiation or PTSD have been reported. By contrast, PTSD has been seen in survivors of the Nagasaki and Hiroshima nuclear explosions. A study in Ohio, (United States), which has a nuclear waste plant, investigated PTSD in people living near the plant and found that the symptom level was mild. In general, the most common symptoms among people with mental and psychological disorders due to radiation exposure are depression and anxiety, with many people having associated somatoform disorders, and some people complain of PTSD. Vague anxiety and fear of sequelae, regardless of the exposure dose, appears to cause such psychiatric disorders. Although it is rare for psychiatrists to see such cases of psychiatric disorders due to radiation exposure, their number may increase as psychiatric services become more widely available. (K.H.)

  18. Integrated GWAS and Pathway profiling for feed efficiency traits in pigs leads to novel genes and their molecular pathways

    DEFF Research Database (Denmark)

    Do, Duy Ngoc; Ostersen, Tage; Strathe, Anders Bjerring

    2013-01-01

    . Residual feed intake is a feed efficiency measure and is highly economically important in animal production. In our study, a total of 596 Yorkshire boars had phenotypic and genotypic records. After quality control, 37,915 SNPs were available for GWAS which was implemented in the DMU software package....... Genome wide association analysis detected 3,450 SNPs (P 7,169 nearby genes were found in 0.5 Mb flanking the SNP positions for all 3,450 SNPs. Among them, 2,934 genes were functionally recognized in pigs and were used as input...... in Database for Annotation, Visualization and Integrated Discovery (DAVID). Neuroactive ligand-receptor interaction, SNARE interactions in vesicular transport, pyruvate metabolism and Wnt signaling pathway were detected by using KEGG tools, growth hormone and phospholipase C signaling pathway were detected...

  19. Integrated GWAS and Pathway profiling for feed efficiency traits in pigs leads to novel genes and their molecular pathways

    DEFF Research Database (Denmark)

    Do, Duy Ngoc; Ostersen, Tage; Strathe, Anders Bjerring

    . Residual feed intake is a feed efficiency measure and is highly economically important in animal production. In our study, a total of 596 Yorkshire boars had phenotypic and genotypic records. After quality control, 37,915 SNPs were available for GWAS which was implemented in the DMU software package....... Genome wide association analysis detected 3,450 SNPs (P 7,169 nearby genes were found in 0.5 Mb flanking the SNP positions for all 3,450 SNPs. Among them, 2,934 genes were functionally recognized in pigs and were used as input...... in Database for Annotation, Visualization and Integrated Discovery (DAVID). Neuroactive ligand-receptor interaction, SNARE interactions in vesicular transport, pyruvate metabolism and Wnt signaling pathway were detected by using KEGG tools, growth hormone and phospholipase C signaling pathway were detected...

  20. Replication and meta-analysis of GWAS identified susceptibility loci in Kawasaki disease confirm the importance of B lymphoid tyrosine kinase (BLK) in disease susceptibility

    NARCIS (Netherlands)

    Chang, Chia-Jung; Kuo, Ho-Chang; Chang, Jeng-Sheng; Lee, Jong-Keuk; Tsai, Fuu-Jen; Khor, Chiea Chuen; Chang, Li-Ching; Chen, Shih-Ping; Ko, Tai-Ming; Liu, Yi-Min; Chen, Ying-Ju; Hong, Young Mi; Jang, Gi Young; Hibberd, Martin L.; Kuijpers, Taco; Burgner, David; Levin, Michael; Burns, Jane C.; Davila, Sonia; Chen, Yuan-Tsong; Chen, Chien-Hsiun; Wu, Jer-Yuarn; Lee, Yi-Ching; Liang, Chi-Di; Hwang, Kao-Pin; Chang, Luan-Yin; Huang, Li-Min; Chen, Ming-Ren; Chi, Hsin; Huang, Fu-Yuan; Chiu, Nan-Chang; Lee, Meng-Luen; Huang, Yhu-Chering; Hwang, Betau; Lee, Pi-Chang; Yoo, Jeong-Jin; Park, In-Sook; Hong, Soo-Jong; Kim, Kwi-Joo; Kim, Jae-Jung; Sohn, Saejung; Young Jang, Gi; Ha, Kee-Soo; Nam, Hyo-Kyoung; Byeon, Jung-Hye; Yun, Sin Weon; Han, Myung Ki; Lee, Kyung-Yil; Hwang, Ja-Young; Rhim, Jung-Woo; Song, Min Seob; Lee, Hyoung Doo; Kim, Dong Soo; Kil, Hong-Ryang; Kim, Gi-Beom; Yoon, Kyung Lim; Kim, Jong-Duk; Lee, Jae-Moo; Odam, Miranda; Christiansen, Frank; Goldwater, Paul; Curtis, Nigel; Palasanthiran, Pamela; Ziegler, John; Nissan, Michael; Kuipers, Irene M.; Ottenkamp, Jaap J.; Geissler, Judy; Biezeveld, Maarten; Filippini, Luc; Ling, Ling; Wright, Victoria J.; Brogan, Paul; Klein, Nigel; Shah, Vanita; Dillon, Michael; Booy, Robert; Shingadia, Delane; Bose, Anu; Mukasa, Thomas; Tulloh, Robert; Michie, Colin

    2013-01-01

    The BLK and CD40 loci have been associated with Kawasaki disease (KD) in two genome-wide association studies (GWAS) conducted in a Taiwanese population of Han Chinese ancestry (Taiwanese) and in Japanese cohorts. Here we build on these findings with replication studies of the BLK and CD40 loci in

  1. Network-Based Integration of GWAS and Gene Expression Identifies a HOX-Centric Network Associated with Serous Ovarian Cancer Risk

    DEFF Research Database (Denmark)

    Kar, Siddhartha P; Tyrer, Jonathan P; Li, Qiyuan

    2015-01-01

    BACKGROUND: Genome-wide association studies (GWAS) have so far reported 12 loci associated with serous epithelial ovarian cancer (EOC) risk. We hypothesized that some of these loci function through nearby transcription factor (TF) genes and that putative target genes of these TFs as identified by...

  2. A GWAS follow-up study reveals the association of the IL12RB2 gene with systemic sclerosis in Caucasian populations.

    NARCIS (Netherlands)

    Bossini-Castillo, L.; Martin, J.E.; Broen, J.; Gorlova, O.; Simeon, C.P.; Beretta, L.; Vonk, M.C.; Callejas, J.L.; Castellvi, I.; Carreira, P.; Garcia-Hernandez, F.J.; Fernandez Castro, M.; Coenen, M.J.H.; Riemekasten, G.; Witte, T.; Hunzelmann, N.; Kreuter, A.; Distler, J.H.; Koeleman, B.P.; Voskuyl, A.E.; Schuerwegh, A.J.; Palm, O.; Hesselstrand, R.; Nordin, A.; Airo, P.; Lunardi, C.; Scorza, R.; Shiels, P.; Laar, J.M. van; Herrick, A.; Worthington, J.; Denton, C.; Tan, F.K.; Arnett, F.C.; Agarwal, S.K.; Assassi, S.; Fonseca, C.; Mayes, M.D.; Radstake, T.R.D.J.; Martin, J.

    2012-01-01

    A single-nucleotide polymorphism (SNP) at the IL12RB2 locus showed a suggestive association signal in a previously published genome-wide association study (GWAS) in systemic sclerosis (SSc). Aiming to reveal the possible implication of the IL12RB2 gene in SSc, we conducted a follow-up study of this

  3. The CEPH consortium primary linkage map of human chromosome 10.

    Science.gov (United States)

    White, R L; Lalouel, J M; Nakamura, Y; Donis-Keller, H; Green, P; Bowden, D W; Mathew, C G; Easton, D F; Robson, E B; Morton, N E

    1990-03-01

    The first CEPH consortium map, that of chromosome 10, is presented. This primary linkage map contains 28 continuously linked loci defined by genotypes generated from CEPH family DNAs with 37 probe and enzyme combinations. Cytogenetic localization of some of the genetic markers indicates that the consortium map extends, at least, from 10p13 to 10q26. The order of loci on the consortium map agrees with the physical localization data. The female map spans 309 cM (206 cM if an approximation of interference is included in the mapping function used to construct the map), and the mean genetic distance of intervals is 11 cM (7 cM). Also presented are maps of chromosome 10 from each of five CEPH collaborating laboratories, based on genotypes for all relevant markers in the CEPH database. The CEPH consortium map of chromosome 10 should be useful for localization of any gene of interest falling within the span covered. The genotypes in the chromosome 10 consortium map database are now available to the scientific community.

  4. Medical education in Korea: the e-learning consortium.

    Science.gov (United States)

    Kim, Kyong-Jee; Han, Joungho; Park, Ie Byung; Kee, Changwon

    2009-09-01

    This article reports the latest development in e-learning in Korean medical education. The Korean Consortium for e-Learning in Medical Education was formed for collaboration in providing quality online learning resources for medical schools around the nation. This e-learning strategy is aimed at improving the quality of medical education at the national level by providing students with equal access to quality learning resources and fostering students' self-directed learning and, in doing so, enhancing the effectiveness and efficiency of developing online learning resources by sharing necessary resources among the medical schools. The consortium also plans to share e-learning content with medical schools in other countries by engaging more medical schools in the consortium and also by sharing e-learning content developed by other institutions or consortiums. The consortium is also dedicated to the research and development of effective online learning strategies for medical education, including interactive virtual patient cases and other innovative pedagogies using Web 2.0 technologies.

  5. Using prior information from the medical literature in GWAS of oral cancer identifies novel susceptibility variant on chromosome 4--the AdAPT method.

    Directory of Open Access Journals (Sweden)

    Mattias Johansson

    Full Text Available BACKGROUND: Genome-wide association studies (GWAS require large sample sizes to obtain adequate statistical power, but it may be possible to increase the power by incorporating complementary data. In this study we investigated the feasibility of automatically retrieving information from the medical literature and leveraging this information in GWAS. METHODS: We developed a method that searches through PubMed abstracts for pre-assigned keywords and key concepts, and uses this information to assign prior probabilities of association for each single nucleotide polymorphism (SNP with the phenotype of interest--the Adjusting Association Priors with Text (AdAPT method. Association results from a GWAS can subsequently be ranked in the context of these priors using the Bayes False Discovery Probability (BFDP framework. We initially tested AdAPT by comparing rankings of known susceptibility alleles in a previous lung cancer GWAS, and subsequently applied it in a two-phase GWAS of oral cancer. RESULTS: Known lung cancer susceptibility SNPs were consistently ranked higher by AdAPT BFDPs than by p-values. In the oral cancer GWAS, we sought to replicate the top five SNPs as ranked by AdAPT BFDPs, of which rs991316, located in the ADH gene region of 4q23, displayed a statistically significant association with oral cancer risk in the replication phase (per-rare-allele log additive p-value [p(trend] = 2.5×10(-3. The combined OR for having one additional rare allele was 0.83 (95% CI: 0.76-0.90, and this association was independent of previously identified susceptibility SNPs that are associated with overall UADT cancer in this gene region. We also investigated if rs991316 was associated with other cancers of the upper aerodigestive tract (UADT, but no additional association signal was found. CONCLUSION: This study highlights the potential utility of systematically incorporating prior knowledge from the medical literature in genome-wide analyses using the Ad

  6. Psychiatric morbidity following Hurricane Andrew.

    Science.gov (United States)

    David, D; Mellman, T A; Mendoza, L M; Kulick-Bell, R; Ironson, G; Schneiderman, N

    1996-07-01

    The nature of psychiatric morbidity in previously non-ill subjects from the area most affected by Hurricane Andrew was investigated at 6-12 months posthurricane. Preliminary associations of morbidity with personal and event-related risk factors were also determined. Fifty one percent (31/61) met criteria for a new-onset disorder, including posttraumatic stress disorder (PTSD) in 36%, major depression (MD) in 30%, and other anxiety disorders in 20%. Thirty four subjects (56%) had significant symptoms persisting beyond 6 months. Having sustained "severe damage" was the risk factor most strongly associated with outcome. Our data underscore the range of psychiatric morbidity related to a natural disaster, and suggest a relationship to chronic stressors.

  7. [Psychiatric emergencies in drug addiction].

    Science.gov (United States)

    Benyamina, Amine; Bouchez, Jacques; Rahioui, Hassan; Reynaud, Michel

    2003-06-01

    The practitioner is very frequently confronted by emergencies in drug-addicted patients also having psychiatric symptomatology. In this article the authors will address emergencies related to alcohol (notably intoxication, pre-DTs and the encephalopathies); emergencies related to cannabis (notably intoxication, psychotic states and panic attacks); and emergencies related to other psycho-active substances (overdoses, drug-withdrawal, psychiatric complications related to cocaine or amphetamines). In the domain of drug addiction, as in psychiatry, the practitioner must give as much importance to the organisation of the long-term healthcare plan for the drug addict, ulterior to the management of the immediate emergency. For example, whereas 90% of subjects presenting to the emergency department for acute alcoholic intoxication have a pathological consumption of alcohol (abuse or dependance), management of the alcoholism is proposed in only 2% of them.

  8. Dysfunctions in public psychiatric bureaucracies.

    Science.gov (United States)

    Marcos, L R

    1988-03-01

    The author describes common dysfunctions in public psychiatric organizations according to the model of bureaucracy articulated by Max Weber. Dysfunctions are divided into the categories of goal displacement, outside interference, unclear authority structure and hierarchy, and informal relations in the work place. The author emphasizes the bureaucratic nature of public psychiatry and the need for mental health professionals to understand the dysfunctions of the organizations in which they work, including the impact of these dysfunctions on the provision of quality care.

  9. Psychiatric Thoughts in Ancient India*

    OpenAIRE

    Ravi Abhyankar

    2015-01-01

    A review of the literature regarding psychiatric thoughts in ancient India is attempted. Besides interesting reading, many of the concepts are still relevant and can be used in day-to-day practice especially towards healthy and happy living. Certain concepts are surprisingly contemporary and valid today. They can be used in psychotherapy and counselling and for promoting mental health. However, the description and classification of mental illness is not in tune with modern psychiatry.

  10. Treatment Adherence in Psychiatric Disorders

    Directory of Open Access Journals (Sweden)

    Mehmet Emin Demirkol

    2016-03-01

    Full Text Available Despite developments in treatment options there is no significant increase in treatment adherence ratios. Inadherence in psychiatric disorders is higher than the other diseases. Loss of insight, drugs' side effects, sociodemographic features, personality traits are major factors affecting the treatment adherence. Determining and overcoming these factors for each disorder will help to improve adherence and reduce the treatment costs and hospitalization. [Psikiyatride Guncel Yaklasimlar - Current Approaches in Psychiatry 2016; 8(1: 85-93

  11. Psychiatric thoughts in ancient India.

    Science.gov (United States)

    Abhyankar, Ravi

    2015-01-01

    A review of the literature regarding psychiatric thoughts in ancient India is attempted. Besides interesting reading, many of the concepts are still relevant and can be used in day-to-day practice especially towards healthy and happy living. Certain concepts are surprisingly contemporary and valid today. They can be used in psychotherapy and counselling and for promoting mental health. However, the description and classification of mental illness is not in tune with modern psychiatry.

  12. Psychiatric Thoughts in Ancient India*

    Science.gov (United States)

    Abhyankar, Ravi

    2015-01-01

    A review of the literature regarding psychiatric thoughts in ancient India is attempted. Besides interesting reading, many of the concepts are still relevant and can be used in day-to-day practice especially towards healthy and happy living. Certain concepts are surprisingly contemporary and valid today. They can be used in psychotherapy and counselling and for promoting mental health. However, the description and classification of mental illness is not in tune with modern psychiatry. PMID:25838724

  13. Dissociative Experiences in Psychiatric Inpatients

    OpenAIRE

    Ali Firoozabadi; Nooshin Reza Alizadeh

    2016-01-01

    Dissociative disorders are conditions that involve disruptions of memory, awareness, identity, or perception. Data collected in diverse geographic locations underline the consistency in clinical symptoms of dissociative disorders. In this cross-sectional descriptive study, prevalence of dissociative experiences has been screened in hospitalized patients in psychiatric wards of Shiraz University of Medical Sciences in Iran. One hundred and sixty patients in two hospitals entered the study. Our...

  14. Psychiatric aspects of bariatric surgery

    Science.gov (United States)

    Yen, Yung-Chieh; Huang, Chih-Kuan; Tai, Chi-Ming

    2014-01-01

    Purpose of review Bariatric surgery has been consistently shown to be effective in long-term marked weight loss and in bringing significant improvement to medical comorbidities such as metabolic syndrome. Empirical data suggest a high prevalence of psychiatric disorders among bariatric surgery candidates. In this review, we focus on the studies published recently with a high impact on our understanding of the role of psychiatry in bariatric surgery. Recent findings This article reviews the specific psychopathologies before surgery, changes in psychopathologies after surgery, suicide risk related to bariatric surgery, factors associated with weight loss, and recommendations for presurgical and postsurgical assessment and management. Research indicates a decrease in certain psychiatric symptoms after weight loss with bariatric surgery. However, the risk of suicide and unsuccessful weight loss in some bariatric surgery patients make monitoring following surgery as important as careful assessment and management before surgery. Specific considerations for youth and older populations and future potential research foci are discussed. Summary Recent publications suggest new directions for psychiatric evaluation and interventions for bariatric surgery patients. Future research on outcomes of specific populations, effectiveness of psychopharmacotherapy, and underlying pathophysiology are warranted for the advancement of treating bariatric surgery patients. PMID:25036421

  15. Psychiatric trainees in Finland 2001.

    Science.gov (United States)

    Putkonen, Hanna; Holi, Matti; Kaltiala-Heino, Riittakerttu; Korkeila, Jyrki; Eronen, Markku

    2005-01-01

    This study examined Finnish psychiatric trainees' views on their education. This was a survey study of nationwide data on Finnish psychiatric trainees in 2001. The quality of training was considered at least moderate by 84% of the respondents. Training on epidemiology, on taking history and status, and on psychopharmacology was considered the best. Quality was rated bad for training in leadership and administration, and educating the community. Research was done by 20%, and a personal clinical supervisor was appointed to 52% of the respondents. Offensive treatment had been experienced by 49% of the trainees in this study. Generally, studies of training also reflect strengths and weaknesses of the profession. Based on our results, it seems especially that training in leadership and in educating the community need to be improved; both of these are quintessential skills to survive in the struggle for economic and human resources. Furthermore, treatment of the trainees could still be better; attention should be paid to supervision of all trainees. Moreover, research must become more attractive. Psychiatry can be developed by the development of psychiatric training.

  16. Advances in industrial microbiome based on microbial consortium for biorefinery.

    Science.gov (United States)

    Jiang, Li-Li; Zhou, Jin-Jie; Quan, Chun-Shan; Xiu, Zhi-Long

    2017-01-01

    One of the important targets of industrial biotechnology is using cheap biomass resources. The traditional strategy is microbial fermentations with single strain. However, cheap biomass normally contains so complex compositions and impurities that it is very difficult for single microorganism to utilize availably. In order to completely utilize the substrates and produce multiple products in one process, industrial microbiome based on microbial consortium draws more and more attention. In this review, we first briefly described some examples of existing industrial bioprocesses involving microbial consortia. Comparison of 1,3-propanediol production by mixed and pure cultures were then introduced, and interaction relationships between cells in microbial consortium were summarized. Finally, the outlook on how to design and apply microbial consortium in the future was also proposed.

  17. The TB Structural Genomics Consortium: a decade of progress.

    Science.gov (United States)

    Chim, Nicholas; Habel, Jeff E; Johnston, Jodie M; Krieger, Inna; Miallau, Linda; Sankaranarayanan, Ramasamy; Morse, Robert P; Bruning, John; Swanson, Stephanie; Kim, Haelee; Kim, Chang-Yub; Li, Hongye; Bulloch, Esther M; Payne, Richard J; Manos-Turvey, Alexandra; Hung, Li-Wei; Baker, Edward N; Lott, J Shaun; James, Michael N G; Terwilliger, Thomas C; Eisenberg, David S; Sacchettini, James C; Goulding, Celia W

    2011-03-01

    The TB Structural Genomics Consortium is a worldwide organization of collaborators whose mission is the comprehensive structural determination and analyses of Mycobacterium tuberculosis proteins to ultimately aid in tuberculosis diagnosis and treatment. Congruent to the overall vision, Consortium members have additionally established an integrated facilities core to streamline M. tuberculosis structural biology and developed bioinformatics resources for data mining. This review aims to share the latest Consortium developments with the TB community, including recent structures of proteins that play significant roles within M. tuberculosis. Atomic resolution details may unravel mechanistic insights and reveal unique and novel protein features, as well as important protein-protein and protein-ligand interactions, which ultimately lead to a better understanding of M. tuberculosis biology and may be exploited for rational, structure-based therapeutics design. Copyright © 2010 Elsevier Ltd. All rights reserved.

  18. Augmentation of a Microbial Consortium for Enhanced Polylactide (PLA) Degradation.

    Science.gov (United States)

    Nair, Nimisha R; Sekhar, Vini C; Nampoothiri, K Madhavan

    2016-03-01

    Bioplastics are eco-friendly and derived from renewable biomass sources. Innovation in recycling methods will tackle some of the critical issues facing the acceptance of bioplastics. Polylactic acid (PLA) is the commonly used and well-studied bioplastic that is presumed to be biodegradable. Considering their demand and use in near future, exploration for microbes capable of bioplastic degradation has high potential. Four PLA degrading strains were isolated and identified as Penicillium chrysogenum, Cladosporium sphaerospermum, Serratia marcescens and Rhodotorula mucilaginosa. A consortium of above strains degraded 44 % (w/w) PLA in 30 days time in laboratory conditions. Subsequently, the microbial consortium employed effectively for PLA composting.

  19. Midwest Superconductivity Consortium - Final Progress Report October 2001

    Energy Technology Data Exchange (ETDEWEB)

    Bement, Arden L.

    2001-10-23

    The basic mission of the Consortium was to advance the science and understanding of high-T{sub c} superconductivity and to promote the development of new materials and improved processing technology. Focused group efforts were the key element of the research program. One program area is the understanding of the layered structures involved in candidate materials and the factors that control their formation, stability and relationship superconductor properties. The other program area had a focus upon factors that limit or control the transport properties such as weak links, flux lattice behavior, and interfaces. Interactions among Consortium d with industrial armiates were an integral part of the program.

  20. Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium

    National Research Council Canada - National Science Library

    Broeks, A; Schmidt, M.K; Sherman, M.E; Couch, F.J; Hopper, J.L; Dite, G.S; Apicella, C; Smith, L.D; Hammet, F; Southey, M.C; Veer, L.J. van 't; Groot, R. de; Smit, V.T; Fasching, P.A; Beckmann, M.W; Jud, S; Ekici, A.B; Hartmann, A; Hein, A; Schulz-Wendtland, R; Burwinkel, B; Marme, F; Schneeweiss, A; Sinn, H.P; Sohn, C; Tchatchou, S; Bojesen, S.E; Nordestgaard, B.G; Flyger, H; Orsted, D.D; Kaur-Knudsen, D; Milne, R.L; Perez, J.I; Zamora, P; Roiguez, P.M; Benitez, J; Brauch, H; Justenhoven, C; Ko, Y.D; Hamann, U; Fischer, H.P; Bruning, T; Pesch, B; Chang-Claude, J; Wang-Gohrke, S; Bremer, M; Karstens, J.H; Hillemanns, P; Dork, T; Nevanlinna, H.A; Heikkinen, T; Heikkila, P; Blomqvist, C; Aittomaki, K; Aaltonen, K; Lindblom, A; Margolin, S; Mannermaa, A; Kosma, V.M; Kauppinen, J.M; Kataja, V; Auvinen, P; Eskelinen, M; Soini, Y; Chenevix-Trench, G; Spurdle, A.B; Beesley, J; Chen, X; Holland, H; Lambrechts, D; Claes, B; Vandorpe, T; Neven, P; Wildiers, H; Flesch-Janys, D; Hein, R; Loning, T; Kosel, M; Fredericksen, Z.S; Wang, X; Giles, G.G; Baglietto, L; Severi, G; McLean, C; Haiman, C.A; Henderson, B.E; Marchand, L. le; Kolonel, L.N; Alnaes, G.G; Kristensen, V; Borresen-Dale, A.L; Hunter, D.J; Hankinson, S.E; Anulis, I.L; Mulligan, A.M; O'Malley, F.P; Devilee, P; Huijts, P.E; Tollenaar, R.A.E.M; Asperen, C.J. van

    2011-01-01

    .... We investigated breast cancer risk associations of eight susceptibility loci identified in GWAS and two putative susceptibility loci in candidate genes in relation to specific breast tumor subtypes...

  1. A fine-mapping study of 7 top scoring genes from a GWAS for major depressive disorder

    NARCIS (Netherlands)

    E.C. Verbeek (Eva); I.M.C. Bakker (Ingrid); M.R. Bevova (Marianna); Z. Bochdanovits (Zoltan); P. Rizzu (Patrizia); D. Sondervan (David); G.A.H.M. Willemsen (Gonneke); E.J.C. de Geus (Eco); J.H. Smit (Johannes); B.W.J.H. Penninx (Brenda); D.I. Boomsma (Dorret); W.J.G. Hoogendijk (Witte); P. Heutink (Peter)

    2012-01-01

    textabstractMajor depressive disorder (MDD) is a psychiatric disorder that is characterized -amongst others- by persistent depressed mood, loss of interest and pleasure and psychomotor retardation. Environmental circumstances have proven to influence the aetiology of the disease, but MDD also has an

  2. A Fine-Mapping Study of 7 Top Scoring Genes from a GWAS for Major Depressive Disorder

    NARCIS (Netherlands)

    Verbeek, Eva C.; Bakker, Ingrid M.C.; Bevova, Marianna R.; Bochdanovits, Zoltan; Rizzu, Patrizia; Sondervan, David; Willemsen, Gonneke; de Geus, Eco J.; Smit, Johannes H.; Penninx, Brenda; Boomsma, Dorret I.; Hoogendijk, Witte J. G.; Heutink, Peter

    2012-01-01

    Major depressive disorder (MDD) is a psychiatric disorder that is characterized -amongst others- by persistent depressed mood, loss of interest and pleasure and psychomotor retardation. Environmental circumstances have proven to influence the aetiology of the disease, but MDD also has an estimated

  3. The Changing Face of Hallucination Research: The International Consortium on Hallucination Research (ICHR) 2015 Meeting Report.

    Science.gov (United States)

    Thomas, Neil; Rossell, Susan L; Waters, Flavie

    2016-07-01

    This article reports on the Third Biennial Meeting of the International Consortium on Hallucinations Research, held in Melbourne, Australia, in October 2015. Following a public conference in which research findings were considered in relation to subjective experience and practice, 9 multidisciplinary working groups examined key current issues in progressing the conceptualization and research of hallucinations. Work group topics included: multicenter validation of the transdiagnostic and multimodal Questionnaire for Psychotic Experiences; development of an improved outcome measure for psychological therapies; the relationship between inhibition and hallucinations across multiple levels of explanation; hallucinations in relation to sleep phenomena; emotion and hallucinations; multiple interactions between the experience of self and hallucinations; interactions between language, auditory and memory networks; resting state networks including the default mode; and analyses arising from functional magnetic resonance imaging (fMRI) data-sharing. Major themes in hallucinations research identified during the meeting included (1) progression beyond the auditory verbal modality in schizophrenia to consider hallucinations across modalities and different populations; (2) development of new measures; (3) the central role of multisite collaboration through shared data collection and data pooling; (4) study of time-based and interactive models of hallucination; and (5) the need to increase the accessibility and availability of "real-life" interventions for people with persisting and distressing hallucinations. © The Author 2015. Published by Oxford University Press on behalf of the Maryland Psychiatric Research Center. All rights reserved. For permissions, please email: journals.permissions@oup.com.

  4. Computational Astrophysics Consortium 3 - Supernovae, Gamma-Ray Bursts and Nucleosynthesis

    Energy Technology Data Exchange (ETDEWEB)

    Woosley, Stan [Univ. of California, Santa Cruz, CA (United States)

    2014-08-29

    Final project report for UCSC's participation in the Computational Astrophysics Consortium - Supernovae, Gamma-Ray Bursts and Nucleosynthesis. As an appendix, the report of the entire Consortium is also appended.

  5. A compendium of human genes regulating feeding behavior and body weight, its functional characterization and identification of GWAS genes involved in brain-specific PPI network.

    Science.gov (United States)

    Ignatieva, Elena V; Afonnikov, Dmitry A; Saik, Olga V; Rogaev, Evgeny I; Kolchanov, Nikolay A

    2016-12-22

    Obesity is heritable. It predisposes to many diseases. The objectives of this study were to create a compendium of genes relevant to feeding behavior (FB) and/or body weight (BW) regulation; to construct and to analyze networks formed by associations between genes/proteins; and to identify the most significant genes, biological processes/pathways, and tissues/organs involved in BW regulation. The compendium of genes controlling FB or BW includes 578 human genes. Candidate genes were identified from various sources, including previously published original research and review articles, GWAS meta-analyses, and OMIM (Online Mendelian Inheritance in Man). All genes were ranked according to knowledge about their biological role in body weight regulation and classified according to expression patterns or functional characteristics. Substantial and overrepresented numbers of genes from the compendium encoded cell surface receptors, signaling molecules (hormones, neuropeptides, cytokines), transcription factors, signal transduction proteins, cilium and BBSome components, and lipid binding proteins or were present in the brain-specific list of tissue-enriched genes identified with TSEA tool. We identified 27 pathways from KEGG, REACTOME and BIOCARTA whose genes were overrepresented in the compendium. Networks formed by physical interactions or homological relationships between proteins or interactions between proteins involved in biochemical/signaling pathways were reconstructed and analyzed. Subnetworks and clusters identified by the MCODE tool included genes/proteins associated with cilium morphogenesis, signal transduction proteins (particularly, G protein-coupled receptors, kinases or proteins involved in response to insulin stimulus) and transcription regulation (particularly nuclear receptors). We ranked GWAS genes according to the number of neighbors in three networks and revealed 22 GWAS genes involved in the brain-specific PPI network. On the base of the most

  6. An Appraisal of the Consortium of Tanzania University and ...

    African Journals Online (AJOL)

    wemafr

    Abstract. This study investigated factors constraining effective growth of the Consortium of Tanzania. University and Research Libraries (COTUL). A mixed research design was employed to gain a deeper insight into the subject matter. Data was collected using interviews, questionnaires and observations. Fifty-eight (58) ...

  7. Cohort Profile : The Chronic Kidney Disease Prognosis Consortium

    NARCIS (Netherlands)

    Matsushita, Kunihiro; Ballew, Shoshana H.; Astor, Brad C.; de Jong, Paul E.; Gansevoort, Ronald; Hemmelgarn, Brenda R.; Levey, Andrew S.; Levin, Adeera; Wen, Chi-Pang; Woodward, Mark; Coresh, Josef

    2013-01-01

    The Chronic Kidney Disease Prognosis Consortium (CKD-PC) was established in 2009 to provide comprehensive evidence about the prognostic impact of two key kidney measures that are used to define and stage CKD, estimated glomerular filtration rate (eGFR) and albuminuria, on mortality and kidney

  8. International Arid Lands Consortium's contributions to Madrean Archipelago stewardship

    Science.gov (United States)

    Peter F. Ffolliott; Jeffery O. Dawson; Itshack Moshe; Timothy E. Fulbright; E. Carter Johnson; Paul Verburg; Muhannad Shatanawi; Donald F. Caccamise; Jim P. M. Chamie

    2005-01-01

    The International Arid Lands Consortium (IALC) was established in 1990 to promote research, education, and training activities related to the development, management, and reclamation of arid and semiarid lands worldwide. Building on a decade of experience, the IALC continues to increase the knowledge base for managers by funding research, development, and demonstration...

  9. Massachusetts Institute of Technology Consortium Agreement. Phase II

    Science.gov (United States)

    1999-03-01

    deliver to our sponsors the First Progress Report of Phase 2 of the Home Automation and Healthcare Consortium. This report describes all major research...experiments in diverse fields of home automation and healthcare research, ranging from human physiological modeling, patient monitoring, and

  10. The Research Consortium, 1977-2010: Contributions, Milestones, and Trends

    Science.gov (United States)

    Cardinal, Bradley J.; Claman, Gayle

    2010-01-01

    Research and innovation are a cornerstone of any progressive organization. The Research Consortium (RC) has served as the principal organization fulfilling this function on behalf of the American Alliance for Health, Physical Education, Recreation and Dance (AAHPERD) throughout much of its history. The RC is an organization of approximately 5,000…

  11. Effects of the Consortium of Pseudomonas, Bacillus and ...

    African Journals Online (AJOL)

    BSN

    degrading microorganisms in oil-polluted site. (Atlas, 1981). Crude oil biodegradation can occur under both aerobic and anaerobic conditions (Zengler et al., 1999). This research was aimed at investigating the effects of the consortium of Pseudomonas, Bacillus and. Micrococcus spp on polycyclic aromatic hydrocarbons in ...

  12. Lessons on consortium-based research in climate change and ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    2014-04-03

    Apr 3, 2014 ... Collaborative research efforts are emerging as a way to address complex development challenges such as adapting to climate change. Lessons on consortium-based research in climate change and development is the first in a series of working papers based on work funded by the Collaborative ...

  13. Characteristics of a bioflocculant produced by a consortium of ...

    African Journals Online (AJOL)

    The characteristics of a bioflocculant produced by a consortium of 2 bacteria belonging to the genera Cobetia and Bacillus was investigated. The extracellular bioflocculant was composed of 66% uronic acid and 31% protein and showed an optimum flocculation (90% flocculating activity) of kaolin suspension at a dosage of ...

  14. Virginia Space Grant Consortium Upper Atmospheric Payload Balloon System (Vps)

    Science.gov (United States)

    Marz, Bryan E.; Ash, Robert L.

    1996-01-01

    This document provides a summary of the launch and post-launch activities of Virginia Space Grant Consortium Upper Atmospheric Payload Balloon System, V(ps). It is a comprehensive overview covering launch activities, post-launch activities, experimental results, and future flight recommendations.

  15. 76 FR 20690 - International Consortium of Orthopedic Registries; Public Workshop

    Science.gov (United States)

    2011-04-13

    ... Workshop AGENCY: Food and Drug Administration, HHS. ACTION: Notice of public workshop. The Food and Drug Administration (FDA) is announcing a public workshop entitled ``International Consortium of Orthopedic Registries (ICOR).'' The ] purpose of the public workshop is to facilitate discussion among FDA and worldwide...

  16. The Consortium for Advancing Renewable Energy Technology (CARET)

    Science.gov (United States)

    Gordon, E. M.; Henderson, D. O.; Buffinger, D. R.; Fuller, C. W.; Uribe, R. M.

    1998-01-01

    The Consortium for Advancing Renewable Energy (CARET) is a research and education program which uses the theme of renewable energy to build a minority scientist pipeline. CARET is also a consortium of four universities and NASA Lewis Research Center working together to promote science education and research to minority students using the theme of renewable energy. The consortium membership includes the HBCUs (Historically Black Colleges and Universities), Fisk, Wilberforce and Central State Universities as well as Kent State University and NASA Lewis Research Center. The various stages of this pipeline provide participating students experiences with a different emphasis. Some emphasize building enthusiasm for the classroom study of science and technology while others emphasize the nature of research in these disciplines. Still others focus on relating a practical application to science and technology. And, of great importance to the success of the program are the interfaces between the various stages. Successfully managing these transitions is a requirement for producing trained scientists, engineers and technologists. Presentations describing the CARET program have been given at this year's HBCU Research Conference at the Ohio Aerospace Institute and as a seminar in the Solar Circle Seminar series of the Photovoltaic and Space Environments Branch at NASA Lewis Research Center. In this report, we will describe the many positive achievements toward the fulfillment of the goals and outcomes of our program. We will begin with a description of the interactions among the consortium members and end with a description of the activities of each of the member institutions .

  17. Characteristics of a bioflocculant produced by a consortium of ...

    African Journals Online (AJOL)

    reducing chemical oxygen demand (COD) in brewery wastewater, dairy wastewater and river water. ... affirmation of their bioflocculant production potential. .... (66.2%), protein (31.5%) and neutral sugar (0.5%) (Table 1). TABLE 1. Composition of purified bioflocculant produced by the bacterial consortium. Component.

  18. An Appraisal of the Consortium of Tanzania University and ...

    African Journals Online (AJOL)

    This study investigated factors constraining effective growth of the Consortium of Tanzania University and Research Libraries (COTUL). A mixed research design was employed to gain a deeper insight into the subject matter. Data was collected using interviews, questionnaires and observations. Fifty-eight (58) purposively ...

  19. The Worker Rights Consortium Makes Strides toward Legitimacy.

    Science.gov (United States)

    Van der Werf, Martin

    2000-01-01

    Discusses the rapid growth of the Workers Rights Consortium, a student-originated group with 44 member institutions which opposes sweatshop labor conditions especially in the apparel industry. Notes disagreements about the number of administrators on the board of directors and about the role of industry representives. Compares this group with the…

  20. Effects of the Consortium of Pseudomonas , Bacillus and ...

    African Journals Online (AJOL)

    The effect of the consortium of Pseudomonas, Bacillus and Micrococcus spp on polycyclic aromatic hydrocarbons in crude oil was carried out using standard microbiological methods. Spectrophotometer, gas chromatography and viable count which determined the optical density, the polycyclic aromatic hydrocarbons and ...

  1. Effects of the Consortium of Pseudomonas, Bacillus and ...

    African Journals Online (AJOL)

    The effect of the consortium of Pseudomonas, Bacillus and Micrococcus spp on polycyclic aromatic hydrocarbons in crude oil was carried out using standard microbiological methods. Spectrophotometer, gas chromatography and viable count which determined the optical density, the polycyclic aromatic hydrocarbons and ...

  2. Effects of the Consortium of Pseudomonas, Bacillus and ...

    African Journals Online (AJOL)

    Johnny

    Abstract. The effect of the consortium of Pseudomonas, Bacillus and Micrococcus spp on polycyclic aromatic hydrocarbons in crude oil was carried out using standard microbiological methods. Spectrophotometer, gas chromatography and viable count which determined the optical density, the polycyclic aromatic ...

  3. Psychiatric diagnosis in legal settings

    Directory of Open Access Journals (Sweden)

    Alfred Allan

    2005-12-01

    Full Text Available When asked to give a diagnosis in legal settings practitioners should be mindful of the tentative nature of psychiatric diag- noses and that courts require that such a diagnosis must have scientific credibility. South African courts are not explicit about the test they will apply to determine whether a diagno- sis is scientifically credible, but some guidance can be found in United States case law. This paper examines these criteria with reference to the disorders included in the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV-TR.

  4. Psychiatric specialty training in Greece.

    Science.gov (United States)

    Margariti, M; Kontaxakis, V; Ploumpidis, D

    2017-01-01

    The reform and development of psychiatric services require, in addition to financial resources, reserves in specialized human resources. The role of psychiatrists in this process, and at reducing the consequences of mental morbidity is evident. Psychiatrists are required to play a multifaceted role as clinicians, as experts in multidisciplinary team environments and as advisors in the recognition of public needs in mental health issues, as teachers and mentors for students and other health professionals, as researchers in order to enrich our knowledge in the scientific field of psychiatry, and as public health specialists in the development of the mental health services system. This multifaceted role requires the continuous education of modern psychiatrists, but above all a broad, substantial and comprehensive training regime in the initial stage of their professional career, that is to say during specialization. Training in Psychiatry, as indeed has happened in all other medical specialties, has evolved considerably in recent decades, both in the content of education due to scientific advances in the fields of neurobiology, cognitive neuroscience, genetics, psychopharmacology, epidemiology and psychiatric nosology, and also because of advances in the educational process itself. Simple apprenticeship next to an experienced clinician, despite its importance in the clinical training of young psychiatrists, is no longer sufficient to meet the increased demands of the modern role of psychiatrists, resulting in the creation of educational programs defined by setting and pursuing minimum, though comprehensive educational objectives. This development has created the global need to develop organizations intended to supervise training programs. These organizations have various forms worldwide. In the European Union, the competent supervising body for medical specialties is the UEMS (European Union of Medical Specialities) and particularly in the case of the psychiatric

  5. Cultural relativism and psychiatric illness.

    Science.gov (United States)

    Fabrega, H

    1989-07-01

    Psychiatry has had a long-standing association with sociology and, especially, cultural anthropology. These social sciences have been influential in developing the concept of cultural relativism and applying it to psychiatry, sometimes in a challenging way and with much detriment. The concept has been used by some antipsychiatrists in attempts to discredit psychiatric practice. Contemporary psychiatrists endorsing a form of biological determinism have tended to either disregard the concept or judge it as trivial if not nonsensical. This study describes the concept of cultural relativism, reviews its applications to illness, and analyzes its implications from a historical and theoretical point of view. Its varied aspects, power, and limitations are discussed.

  6. [Gender aspects of psychiatric publications].

    Science.gov (United States)

    Freidl, Marion; Unger, Annemarie; Vyssoki, Benjamin; Wancata, Johannes

    2010-01-01

    Are authors of German language psychiatric journals more often male or female? Are there gender differences regarding scientific topics? Analysis of publications of two German-language journals (Neuropsychiatrie, Psychiatrische Praxis) for the period 2008-2009. We could not find any gender differences concerning the number of first authors, but the number of male co-authors was nearly double as high as of female co-authors. Qualitative research methods were used more often by female researchers, but there were no significant differences regarding scientific topics. Overall, we found fewer gender differences than expected concerning authorship.

  7. Psychiatric sequelae of traumatic brain injury

    Directory of Open Access Journals (Sweden)

    Suprakash Chaudhury

    2013-01-01

    Full Text Available Almost half of the people suffering traumatic brain injury (TBI may later be diagnosed with psychiatric disorders. The literature (PubMed, IndMed of past 30 years on psychiatric disturbances associated with TBI is reviewed. The authors highlight the close link between head injury and psychiatry and provide an overview of the epidemiology, risk-factors, and mechanisms of psychiatric sequelae including, cognitive deficits, substance abuse, psychoses, mood disorders, suicide, anxiety disorders, dissociative disorders, post-concussion syndrome, and personality changes following head injury. The various psychiatric sequelae are briefly discussed.

  8. Approaches to psychiatric nosology: A viewpoint

    National Research Council Canada - National Science Library

    Avasthi, Ajit; Sarkar, Siddharth; Grover, Sandeep

    2014-01-01

    Psychiatric nosology is required for communication among clinicians and researchers, understanding etiology, testing treatment efficacy, knowing the prevalence of the problems and disorders, health...

  9. On sharing quantitative trait GWAS results in an era of multiple-omics data and the limits of genomic privacy.

    Science.gov (United States)

    Im, Hae Kyung; Gamazon, Eric R; Nicolae, Dan L; Cox, Nancy J

    2012-04-06

    Recent advances in genome-scale, system-level measurements of quantitative phenotypes (transcriptome, metabolome, and proteome) promise to yield unprecedented biological insights. In this environment, broad dissemination of results from genome-wide association studies (GWASs) or deep-sequencing efforts is highly desirable. However, summary results from case-control studies (allele frequencies) have been withdrawn from public access because it has been shown that they can be used for inferring participation in a study if the individual's genotype is available. A natural question that follows is how much private information is contained in summary results from quantitative trait GWAS such as regression coefficients or p values. We show that regression coefficients for many SNPs can reveal the person's participation and for participants his or her phenotype with high accuracy. Our power calculations show that regression coefficients contain as much information on individuals as allele frequencies do, if the person's phenotype is rather extreme or if multiple phenotypes are available as has been increasingly facilitated by the use of multiple-omics data sets. These findings emphasize the need to devise a mechanism that allows data sharing that will facilitate scientific progress without sacrificing privacy protection. Copyright © 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  10. GWAS-identified common variants for obesity are not associated with the risk of developing colorectal cancer.

    Science.gov (United States)

    Sainz, Juan; Frank, Bernd; da Silva Filho, Miguel I; Hoffmeister, Michael; Rudolph, Anja; Butterbach, Katja; Chang-Claude, Jenny; Brenner, Hermann; Hemminki, Kari; Försti, Asta

    2014-06-01

    Observational studies have consistently associated obesity with colorectal cancer risk. Because both traits are genetically determined and share some metabolic biomarkers, we hypothesized that obesity-related polymorphisms could also influence the risk of developing colorectal cancer. We conducted a comprehensive population-based case-control study in 1,792 German colorectal cancer cases and 1,805 controls to explore associations between 28 obesogenic variants identified through genome-wide association studies (GWAS) and colorectal cancer risk. We also evaluated interactions between polymorphisms and body mass index (BMI), type II diabetes (T2D), and gender. No evidence of association between obesogenic variants and colorectal cancer risk was observed after correction for multiple testing. There was only a remarkable interaction between the LTArs1041981 polymorphism and gender, which modified the risk of colorectal cancer [Pinteraction = 0.002; males: odds ratio (OR), 1.14; 95% confidence intervals (CI), 1.00-1.30 vs. females: OR, 0.83; 95% CI, 0.71-0.97]. Our findings showed that obesogenic variants are not a major pathogenetic risk factor for colorectal cancer. This comprehensive population-based case-control study does not provide evidence of a shared genetic component between obesity and colorectal cancer. ©2014 American Association for Cancer Research.

  11. Evaluation of common genetic variants identified by GWAS for early onset and morbid obesity in population-based samples

    DEFF Research Database (Denmark)

    den Hoed, M; Luan, J; Langenberg, C

    2013-01-01

    BACKGROUND: Meta-analysis of case-control genome-wide association studies (GWAS) for early onset and morbid obesity identified four variants in/near the PRL, PTER, MAF and NPC1 genes. OBJECTIVE: We aimed to validate association of these variants with obesity-related traits in population......10508503 (near-PTER), rs1424233 (near-MAF) and rs1805081 (NPC1), or proxy variants (r (2)>0.8), with the odds of being overweight and obese, as well as with body mass index (BMI), percentage body fat (%BF) and waist circumference (WC). Associations were adjusted for sex, age and age(2) in adults...... and for sex, age, age group, country and maturity in children and adolescents. Summary statistics were combined using fixed effects meta-analysis methods. RESULTS: We had 80% power to detect odds ratios of 1.046 to 1.092 for overweight and 1.067 to 1.136 for obesity. Variants near PRL, PTER and MAF were...

  12. 24 CFR 943.124 - What elements must a consortium agreement contain?

    Science.gov (United States)

    2010-04-01

    ... 24 Housing and Urban Development 4 2010-04-01 2010-04-01 false What elements must a consortium... HOUSING AND URBAN DEVELOPMENT PUBLIC HOUSING AGENCY CONSORTIA AND JOINT VENTURES Consortia § 943.124 What elements must a consortium agreement contain? (a) The consortium agreement among the participating PHAs...

  13. Legal duties of psychiatric patients.

    Science.gov (United States)

    Beahrs, J O

    1990-01-01

    Psychiatric practice involves an implied contract in which each party fulfills a specialized role and incurs corresponding duties and obligations to be discharged as best able. Patients incur duties at three levels. First are specific duties that arise from patients' specialized role in their own health care: (1) to provide accurate and complete information, and (2) to cooperate with treatment within the bounds of informed consent. Second are general duties that apply to all citizens, but are especially relevant within the mental health context: (1) to respect the physical integrity of self, others, and property, and (2) to obey the law. The controversial "duty to protect" is at a third level, a transcendent duty that is specific to the context at hand, but in principle can apply to more than one party. Advantages of enforcing patients' duties include better care by treating professionals, optimum level of functioning of patients, and improved systems-wide morale and safety. Breach of patients' duty has many potential consequences in the forensic sphere: termination of care, malpractice defense, criminal prosecution, and tort liability. Complicating factors include the degree and effect of patients' psychiatric impairment, patients' legal status, and the role played by psychotherapeutic transference.

  14. Psychotherapy in Contemporary Psychiatric Practice

    Science.gov (United States)

    Hadjipavlou, George; Hernandez, Carlos A Sierra; Ogrodniczuk, John S

    2015-01-01

    Objective: American data suggest a declining trend in the provision of psychotherapy by psychiatrists. Nevertheless, the extent to which such findings generalize to psychiatric practice in other countries is unclear. We surveyed psychiatrists in British Columbia to examine whether the reported decline in psychotherapy provision extends to the landscape of Canadian psychiatric practice. Method: A survey was mailed to the entire population of fully licensed psychiatrists registered in British Columbia (n = 623). The survey consisted of 30 items. Descriptive statistics were used to characterize the sample and psychotherapy practice patterns. Associations between variables were evaluated using nonparametric tests. Results: A total of 423 psychiatrists returned the survey, yielding a response rate of 68%. Overall, 80.9% of psychiatrists (n = 342) reported practicing psychotherapy. A decline in the provision of psychotherapy was not observed; in fact, there was an increase in psychotherapy provision among psychiatrists entering practice in the last 10 years. Individual therapy was the predominant format used by psychiatrists. The most common primary theoretical orientation was psychodynamic (29.9%). Regarding actual practice, supportive psychotherapy was practiced most frequently. Professional time constraints were perceived as the most significant barrier to providing psychotherapy. The majority (85%) of clinicians did not view remuneration as a significant barrier to treating patients with psychotherapy. Conclusions: Our findings challenge the prevailing view that psychotherapy is in decline among psychiatrists. Psychiatrists in British Columbia continue to integrate psychotherapy and pharmacotherapy in clinical practice, thus preserving their unique place in the spectrum of mental health services. PMID:26175328

  15. Time Perception and Psychiatric Disorders

    Directory of Open Access Journals (Sweden)

    Hatice Ceviz

    2013-09-01

    Full Text Available Time perception is an ability which we use in every moment of daily life, that guides the formation and continuation of our behaviors and from an evolutionary perspective ensures survival. Internal clock models help us to understand time perception. Time perception is known to vary between individuals and particular situations. This variability is explained with the mechanisms which is associated with the processes related to attention, the speed of the internal clock and the memory unit. It is suggested that time perception is mainly associated with the activities of dopamine and acetylcholine. Some dopaminergic psychoactive substances like cocaine and amphetamine have all been shown to change time perception by increasing the speed of internal clock while on the other hand some antipsychotic drugs make an opposite change in time perception by descreasing the speed of the clock. Similarly, time perception is affected in some psychiatric disorders and an ethiopathological relationship between time perception disturbances and psychiatric disorders is suggested. In this article time perception changes in schizophrenia, attention deficit/hyperactivity syndrome, depression, anxiety disorders and personality disorders are briefly reviewed.

  16. [Compulsive buying and psychiatric comorbidity].

    Science.gov (United States)

    Mueller, Astrid; Mühlhans, Barbara; Silbermann, Andrea; Müller, Ulrike; Mertens, Christian; Horbach, Thomas; Mitchell, James E; de Zwaan, Martina

    2009-08-01

    Compulsive buying is an excessive behavior that has begun to receive attention from researchers in recent years. The current study provides an overview of research on compulsive buying and examines the psychiatric co-morbidity in a German female treatment seeking compulsive buying sample in comparison with age and gender-matched normal buying control groups. Thirty women suffering from compulsive buying disorder, 30 community controls, and 30 bariatric surgery candidates were assessed with the German versions of the Structured Clinical Interview for DSM-IV diagnoses (SCID). Women with compulsive buying disorder showed significantly higher prevalence rates of affective, anxiety, and eating disorders compared to community controls, and suffered significantly more often from affective and anxiety disorders compared to bariatric surgery candidates. The compulsive buying group presented with the highest rates of personality disorders, most commonly avoidant, depressive, obsessive-compulsive, and borderline personality disorder, and reported the highest prevalence rates of other impulse control disorders, especially for intermittent explosive disorder. The findings suggest an elevated psychiatric co-morbidity in patients with compulsive buying disorder.

  17. Face processing in psychiatric conditions.

    Science.gov (United States)

    Archer, J; Hay, D C; Young, A W

    1992-02-01

    Functional models of face processing have indicated that dissociations exist between the various processes involved, e.g. between familiar face recognition and matching of unfamiliar faces, and between familiar face recognition and facial expression analysis. These models have been successfully applied to the understanding of the different types of impairment that can exist in neuropsychological patients. In the present study, aspects of face processing in psychiatric patients were investigated in relation to Bruce & Young's (1986) model. Based on this functional model different predictions can be made. We contrast here the impaired expression analysis hypothesis, which is that psychiatric patients would show a deficit in facial expression recognition, but not in facial identity recognition or unfamiliar face matching, with the generalized deficit hypothesis, that patients would be impaired on all tasks. These hypotheses were examined using three forced-choice tasks (facial recognition, facial expression recognition, and unfamiliar face matching) which were presented to schizophrenic and depressed patients, and to non-patient controls. Results showed that schizophrenic patients performed at a significantly lower level than non-patient controls on all three tasks, supporting the generalized deficit hypothesis.

  18. Epigenetic signaling in psychiatric disorders.

    Science.gov (United States)

    Peña, Catherine J; Bagot, Rosemary C; Labonté, Benoit; Nestler, Eric J

    2014-10-09

    Psychiatric disorders are complex multifactorial illnesses involving chronic alterations in neural circuit structure and function. While genetic factors are important in the etiology of disorders such as depression and addiction, relatively high rates of discordance among identical twins clearly indicate the importance of additional mechanisms. Environmental factors such as stress or prior drug exposure are known to play a role in the onset of these illnesses. Such exposure to environmental insults induces stable changes in gene expression, neural circuit function, and ultimately behavior, and these maladaptations appear distinct between developmental and adult exposures. Increasing evidence indicates that these sustained abnormalities are maintained by epigenetic modifications in specific brain regions. Indeed, transcriptional dysregulation and associated aberrant epigenetic regulation is a unifying theme in psychiatric disorders. Aspects of depression and addiction can be modeled in animals by inducing disease-like states through environmental manipulations (e.g., chronic stress, drug administration). Understanding how environmental factors recruit the epigenetic machinery in animal models reveals new insight into disease mechanisms in humans. Copyright © 2014 Elsevier Ltd. All rights reserved.

  19. Electricity purchase. Industrialists allowed to build a consortium; Achat d'electricite. Les industriels autorises a constituer un consortium

    Energy Technology Data Exchange (ETDEWEB)

    Lepetit, V

    2005-08-01

    On July 20, 2005, the French government has announced the implementation of a system allowing the big power-consuming companies (over 20 TWh per year) to group together into a consortium in order to negotiate contracts with power supplier for a 15 to 20 years warranty of prices. Short paper. (J.S.)

  20. Stigmatization of psychiatric symptoms and psychiatric service use: a vignette-based representative population survey.

    Science.gov (United States)

    Sowislo, Julia F; Lange, Claudia; Euler, Sebastian; Hachtel, Henning; Walter, Marc; Borgwardt, Stefan; Lang, Undine E; Huber, Christian G

    2017-06-01

    Background There is evidence for two different types and/or sources of mental illness stigma, namely the display of psychiatric symptoms and the use of psychiatric service institutions. However, no current study has compared the two. Furthermore, gaps exist in our knowledge of both types of stigma. Little is known about the perceived stigma of specific psychiatric service treatment environments, for instance forensic settings. In addition, systematic research on stigma attached to symptoms of personality disorders in the general population is scarce, and for borderline personality disorder, nonexistent. Methods We conducted a representative survey of the general population (N = 2207) in the canton of Basel-Stadt, Switzerland. Participants were asked to read a vignette depicting either the psychiatric symptoms of a fictitious character or a psychiatric service institution to which the character had been admitted, and indicate desired social distance (an indicator for stigma). Type of symptoms, type of psychiatric service, dangerousness, and gender were systematically varied between vignettes. Findings Desired social distance was significantly lower in relation to psychiatric service use than to psychiatric symptoms. Overall, symptoms of alcohol dependency, behavior endangering others, and the fictitious character's being male tend to increase stigmatization. Interestingly, the character's being hospitalized in a psychiatric unit at a general hospital and also respondent familiarity with psychiatric services tend to decrease stigmatization. Interpretation Familiarity of the general population with psychiatric patients should be increased. Furthermore, treatment in psychiatric units located within general hospitals should be promoted, as such treatment is associated with decreased stigma.

  1. ASD, a Psychiatric Disorder, or Both? Psychiatric Diagnoses in Adolescents with High-Functioning ASD

    Science.gov (United States)

    Mazefsky, Carla A.; Oswald, Donald P.; Day, Taylor N.; Eack, Shaun M.; Minshew, Nancy J.; Lainhart, Janet E.

    2012-01-01

    Varied presentations of emotion dysregulation in autism complicate diagnostic decision making and may lead to inaccurate psychiatric diagnoses or delayed autism diagnosis for high-functioning children. This pilot study aimed to determine the concordance between prior psychiatric diagnoses and the results of an autism-specific psychiatric interview…

  2. Comparing Analytic Methods for Longitudinal GWAS and a Case-Study Evaluating Chemotherapy Course Length in Pediatric AML. A Report from the Children’s Oncology Group.

    Directory of Open Access Journals (Sweden)

    Marijana Vujkovic

    2016-08-01

    Full Text Available Regression analysis is commonly used in genome-wide association studies (GWAS to test genotype-phenotype associations but restricts the phenotype to a single observation for each individual. There is an increasing need for analytic methods for longitudinally collected phenotype data. Several methods have been proposed to perform longitudinal GWAS for family-based studies but few methods are described for unrelated populations. We compared the performance of three statistical approaches for longitudinal GWAS in unrelated subjectes: (1 principal component-based generalized estimating equations (PC-GEE; (2 principal component-based linear mixed effects model (PC-LMEM; (3 kinship coefficient matrix-based linear mixed effects model (KIN-LMEM, in a study of single-nucleotide polymorphisms (SNPs on the duration of 4 courses of chemotherapy in 624 unrelated children with de novo acute myeloid leukemia (AML genotyped on the Illumina 2.5M OmniQuad from the COG studies AAML0531 and AAML1031.In this study we observed an exaggerated type I error with PC-GEE in SNPs with minor allele frequencies < 0.05, wheras KIN-LMEM produces more than expected type II errors. PC-MEM showed balanced type I and type II errors for the observed versus expected P-values in comparison to competing approaches. In general, a strong concordance was observed between the P-values with the different approaches, in particular among P-values < 0.01 where the between-method AUCs exceed 99%. PC-LMEM accounts for genetic relatedness and correlations among repeated phenotype measures, shows minimal genome-wide inflation of type I errors, and yields high power. We therefore recommend PC-LMEM as a robust analytic approach for GWAS of longitudinal data in unrelated populations.

  3. History of the Nordic psychiatric cooperation.

    Science.gov (United States)

    von Knorring, Lars

    2012-03-01

    The Nordic countries include Denmark, Finland, Iceland, Norway and Sweden as well the Faroe Islands, Greenland, Svalbard and Åland. The countries share much common history as well as common traits in their respective societies. As early as 1906, a Scandinavian Psychiatric Association was suggested. The first Nordic Psychiatric Congress was held in Copenhagen 1913. After the First World War, at the 6th Nordic Psychiatric Congress in Stockholm 1935, a Nordic Psychiatric Association was founded and it was decided that a Nordic Journal of Psychiatry should be founded. After the Second World War, at the 8th Nordic Psychiatric Congress in Copenhagen 1946, the Nordic Psychiatric Association was terminated. At this time, the most important task of the Association, to found a Nordic Journal of Psychiatry, had been achieved. After 1946, there has been a close cooperation between the Nordic countries but no common Nordic Psychiatric Association. Today, the Nordic Psychiatric Cooperation is active and ongoing. The 30th Nordic Psychiatric Congress is scheduled to be held in Tromsö, in 2012. The Nordic Journal of Psychiatry is publishing its 64 th volume. The Journal is indexed in the important international databases and the impact factor is increasing. The Joint Committee of the Nordic psychiatric associations has established itself as the owner of the Journal and the organizer of the congresses. There are also a series of Nordic cooperations in a series of different fields, such as the Scandinavian Societies of Biological Psychiatry, the Scandinavian College of Neuropsychopharmacology (SCNP), the bi-annual Nordic Psychoanalytical Congresses, the Scandinavian Psychoanalytic Review, the Nordic Association of Psychiatric Epidemiology, NAPE, and so on.

  4. Identification of loci governing eight agronomic traits using a GBS-GWAS approach and validation by QTL mapping in soya bean.

    Science.gov (United States)

    Sonah, Humira; O'Donoughue, Louise; Cober, Elroy; Rajcan, Istvan; Belzile, François

    2015-02-01

    Soya bean is a major source of edible oil and protein for human consumption as well as animal feed. Understanding the genetic basis of different traits in soya bean will provide important insights for improving breeding strategies for this crop. A genome-wide association study (GWAS) was conducted to accelerate molecular breeding for the improvement of agronomic traits in soya bean. A genotyping-by-sequencing (GBS) approach was used to provide dense genome-wide marker coverage (>47,000 SNPs) for a panel of 304 short-season soya bean lines. A subset of 139 lines, representative of the diversity among these, was characterized phenotypically for eight traits under six environments (3 sites × 2 years). Marker coverage proved sufficient to ensure highly significant associations between the genes known to control simple traits (flower, hilum and pubescence colour) and flanking SNPs. Between one and eight genomic loci associated with more complex traits (maturity, plant height, seed weight, seed oil and protein) were also identified. Importantly, most of these GWAS loci were located within genomic regions identified by previously reported quantitative trait locus (QTL) for these traits. In some cases, the reported QTLs were also successfully validated by additional QTL mapping in a biparental population. This study demonstrates that integrating GBS and GWAS can be used as a powerful complementary approach to classical biparental mapping for dissecting complex traits in soya bean. © 2014 Society for Experimental Biology, Association of Applied Biologists and John Wiley & Sons Ltd.

  5. Integrating Sequence-based GWAS and RNA-Seq Provides Novel Insights into the Genetic Basis of Mastitis and Milk Production in Dairy Cattle.

    Science.gov (United States)

    Fang, Lingzhao; Sahana, Goutam; Su, Guosheng; Yu, Ying; Zhang, Shengli; Lund, Mogens Sandø; Sørensen, Peter

    2017-03-30

    Connecting genome-wide association study (GWAS) to biological mechanisms underlying complex traits is a major challenge. Mastitis resistance and milk production are complex traits of economic importance in the dairy sector and are associated with intra-mammary infection (IMI). Here, we integrated IMI-relevant RNA-Seq data from Holstein cattle and sequence-based GWAS data from three dairy cattle breeds (i.e., Holstein, Nordic red cattle, and Jersey) to explore the genetic basis of mastitis resistance and milk production using post-GWAS analyses and a genomic feature linear mixed model. At 24 h post-IMI, genes responsive to IMI in the mammary gland were preferentially enriched for genetic variants associated with mastitis resistance rather than milk production. Response genes in the liver were mainly enriched for variants associated with mastitis resistance at an early time point (3 h) post-IMI, whereas responsive genes at later stages were enriched for associated variants with milk production. The up- and down-regulated genes were enriched for associated variants with mastitis resistance and milk production, respectively. The patterns were consistent across breeds, indicating that different breeds shared similarities in the genetic basis of these traits. Our approaches provide a framework for integrating multiple layers of data to understand the genetic architecture underlying complex traits.

  6. The TRiC/CCT chaperone is implicated in Alzheimer's disease based on patient GWAS and an RNAi screen in Aβ-expressing Caenorhabditis elegans.

    Directory of Open Access Journals (Sweden)

    Eleonora Khabirova

    Full Text Available The human Aβ peptide causes progressive paralysis when expressed in the muscles of the nematode worm, C. elegans. We have exploited this model of Aβ toxicity by carrying out an RNAi screen to identify genes whose reduced expression modifies the severity of this locomotor phenotype. Our initial finding was that none of the human orthologues of these worm genes is identical with the genome-wide significant GWAS genes reported to date (the "white zone"; moreover there was no identity between worm screen hits and the longer list of GWAS genes which included those with borderline levels of significance (the "grey zone". This indicates that Aβ toxicity should not be considered as equivalent to sporadic AD. To increase the sensitivity of our analysis, we then considered the physical interactors (+1 interactome of the products of the genes in both the worm and the white+grey zone lists. When we consider these worm and GWAS gene lists we find that 4 of the 60 worm genes have a +1 interactome overlap that is larger than expected by chance. Two of these genes form a chaperonin complex, the third is closely associated with this complex and the fourth gene codes for actin, the major substrate of the same chaperonin.

  7. Genome-Wide Association Study for Incident Myocardial Infarction and Coronary Heart Disease in Prospective Cohort Studies: The CHARGE Consortium

    NARCIS (Netherlands)

    A. Dehghan (Abbas); J.C. Bis (Joshua); C.C. White (Charles); A.V. Smith (Albert V.); A.C. Morrison (Alanna); L.A. Cupples (Adrienne); S. Trompet (Stella); D.I. Chasman (Daniel I.); T. Lumley (Thomas); U. Völker (Uwe); B.M. Buckley (Brendan M.); J. Ding (Jingzhong); M.K. Jensen (Majken K.); A.R. Folsom (Aaron R.); S.B. Kritchevsky (Stephen); C.J. Girman (Cynthia J.); I. Ford; M. Dörr (Marcus); V. Salomaa (Veikko); A.G. Uitterlinden (André); G. Eiriksdottir (Gudny); R.S. Vasan (Ramachandran S.); N. Franceschini (Nora); C. Carty (Cara); J. Virtamo (Jarmo); S. Demissie (Serkalem); P. Amouyel (Philippe); D. Arveiler (Dominique); S.R. Heckbert (Susan); J. Ferrieres (Jean); P. Ducimetiere (P.); N.L. Smith (Nicholas); Y.A. Wang (Ying); D.S. Siscovick (David); K.M. Rice (Kenneth); P.-G. Wiklund (Per-Gunnar); K.D. Taylor (Kent); A. Evans (Alun); F. Kee (Frank); J.I. Rotter (Jerome I.); J. Karvanen (Juha); K. Kuulasmaa (Kari); G. Heiss (Gerardo); P. Kraft (Peter); L.J. Launer (Lenore); A. Hofman (Albert); M.R.P. Markus (Marcello R.P.); L.M. Rose (Lynda); K. Silander (Kaisa); P.J. Wagner (Peter); E.J. Benjamin (Emelia); K. Lohman (Kurt); D.J. Stott (David. J.); F. Rivadeneira Ramirez (Fernando); T.B. Harris (Tamara); D. Levy (Daniel); Y. Liu (Yongmei); E.B. Rimm (Eric B.); J.W. Jukema (Jan Wouter); H. Volzke (Henry); P.M. Ridker (Paul M.); S. Blankenberg (Stefan); O.H. Franco (Oscar); V. Gudnason (Vilmundur); B.M. Psaty (Bruce); E.A. Boerwinkle (Eric); C.J. O'Donnell (Christopher J.)

    2016-01-01

    textabstractBackground Data are limited on genome-wide association studies (GWAS) for incident coronary heart disease (CHD). Moreover, it is not known whether genetic variants identified to date also associate with risk of CHD in a prospective setting. Methods We performed a two-stageGWAS analysis

  8. Psychiatric sequelae of traumatic brain injury: Retrospective ...

    African Journals Online (AJOL)

    2011-12-23

    Dec 23, 2011 ... Objective: Traumatic brain injury (TBI) is a public health problem and is associated with many complications. However little is known about the psychiatric sequelae of TBI in Nigeria. This study described the pattern and determinants of psychiatric sequelae among subjects with TBI. Materials and Methods: ...

  9. Human Immunodeficiency Virus Infection among Psychiatric ...

    African Journals Online (AJOL)

    Background: Psychiatric patients are considered high risked group for Human immunodeficiency virus (HIV) infection. This has been found to be as a result of poor judgment and irrationality associated with some of the disorders. However, there is dearth of literature on the prevalence of HIV infection among psychiatric ...

  10. Psychiatric sequelae of traumatic brain injury: Retrospective ...

    African Journals Online (AJOL)

    Information obtained included the sociodemographic characteristics, type of injury, durations of unconsciousness (LOC) and posttraumatic amnesia (PTA), psychiatric and psychoactive substance use history. Psychiatric diagnosis was based on the criteria of the 10th edition of the International Classification of Diseases ...

  11. Exploring the perceptions of psychiatric patients regarding ...

    African Journals Online (AJOL)

    2012-03-13

    Mar 13, 2012 ... recommendations for nursing education, nursing research and nursing practice, with the aim of reducing the readmission of ... impairment of memory, concentration, motivation, self- esteem, relationships with others and ..... at increasing nursing students' and psychiatric nurses' insight about psychiatric ...

  12. Exploring the perceptions of psychiatric patients regarding ...

    African Journals Online (AJOL)

    The purpose of this study was to explore and describe the perceptions of psychiatric patients with regard to marijuana use in Potchefstroom, North West Province, as well as to formulate recommendations for nursing education, nursing research and nursing practice, with the aim of reducing the readmission of psychiatric ...

  13. Smartphone apps as a new psychiatric treatment

    DEFF Research Database (Denmark)

    Dalum, Anette Ellegaard; Arnfred, Sidse Marie

    2014-01-01

    Søg 1 - 1 ud af 1 Smartphone apps as a new psychiatric treatment. Anette Ellegaard Dalum, Sidse Arnfred, 2014, vol. 176, nummer 34, 2014. Ugeskrift for laeger Artikel Importer Fjern......Søg 1 - 1 ud af 1 Smartphone apps as a new psychiatric treatment. Anette Ellegaard Dalum, Sidse Arnfred, 2014, vol. 176, nummer 34, 2014. Ugeskrift for laeger Artikel Importer Fjern...

  14. Establishment of a local psychiatric service

    DEFF Research Database (Denmark)

    Wang, A G

    1981-01-01

    of senile psychoses. The total increase amounts to 2.4 times the admission rates of psychiatric cases to the General Hospital and 4.4 times the admission rates to the Psychiatric Hospital in Nykøbing in the last years prior to the start of the local service. The outpatient department has grown steadily...

  15. PSYCHIATRIC MORBIDITY AMONG CHILDREN AND YOUNG ...

    African Journals Online (AJOL)

    Kateee

    2003-06-06

    Jun 6, 2003 ... Objectives: To estimate the prevalence and pattern of psychiatric disorders among children and young persons appearing in .... by a computer using the Statistical Package for Social. Sciences (SPSS) Version 8.0 and a ..... for further psychiatric assessment and treatment as necessary. The Juvenile court ...

  16. Sleep in Children With Psychiatric Disorders.

    Science.gov (United States)

    Ramtekkar, Ujjwal; Ivanenko, Anna

    2015-06-01

    Sleep disturbances are common in pediatric psychiatric disorders and constitute key elements in diagnostic symptomatology of various primary psychiatric disorders including bipolar disorder, depression, and anxiety disorder. Although sleep is not included in key defining criteria of some impairing illnesses such as obsessive-compulsive disorder and schizophrenia, these disorders present with a very high prevalence of sleep disturbances. The interaction between sleep and psychopathology is very complex with significant interrelationship in development, severity, and prognosis of psychiatric disorders and comorbid sleep disturbances. The research ranging from small intervention case series to large epidemiologic studies have demonstrated the role of specific sleep complaints in specific psychiatric diagnoses. However, the research using objective instruments such as polysomnography and actigraphy remains limited in youth with psychiatric disorders. The intervention studies using pharmaceutical treatment specifically focusing on sleep disturbances in psychiatric disorders are also sparse in the pediatric literature. Early identification of sleep disturbances and behavioral management using cognitive behavior therapy-based tools appear to be the most effective approach for treatment. The use of psychotropic medications such as selective serotonin reuptake inhibitors for the treatment of primary psychiatric disorder often alleviate the psychological barriers for sleep but may lead to emergence of other sleep issues such as restless leg syndrome. The safety and efficacy data of hypnotics for primary sleep disorders are limited in pediatrics and should be avoided or used with extreme caution in children with comorbid sleep and psychiatric problems. Copyright © 2015 Elsevier Inc. All rights reserved.

  17. Perceived sleep quality of psychiatric patients

    NARCIS (Netherlands)

    de Niet, G. J. (Gerrit); Tiemens, B. G. (Bea); Lendemeijer, H. H. G. M. (Bert); Hutschemaekers, G. J. M. (Giel)

    This paper aims at acquiring knowledge about the quality of sleep of adult and elderly psychiatric patients who receive clinical or outpatient nursing care, and identifying key factors in perceiving a sleep problem. To do so, a sample of 1699 psychiatric patients were asked whether they perceived a

  18. Psychiatric disorders of patients seeking obesity treatment

    Directory of Open Access Journals (Sweden)

    Lin Hung-Yen

    2013-01-01

    Full Text Available Abstract Background Obese and overweight people have a higher risk of both chronic physical illness and mental illness. Obesity is reported to be positively associated with psychiatric disorders, especially in people who seek obesity treatment. At the same time, obesity treatment may be influenced by psychological factors or personality characteristics. This study aimed to understand the prevalence of mental disorders among ethnic Chinese who sought obesity treatment. Methods Subjects were retrospectively recruited from an obesity treatment center in Taiwan. The obesity treatments included bariatric surgery and non-surgery treatment. All subjects underwent a standardized clinical evaluation with two questionnaires and a psychiatric referral when needed. The psychiatric diagnosis was made thorough psychiatric clinic interviews using the SCID. A total of 841 patients were recruited. We compared the difference in psychiatric disorder prevalence between patients with surgical and non-surgical treatment. Results Of the 841 patients, 42% had at least one psychiatric disorder. Mood disorders, anxiety disorders and eating disorders were the most prevalent categories of psychiatric disorders. Females had more mood disorders and eating disorders than males. The surgical group had more binge-eating disorder, adjustment disorder, and sleep disorders than the non-surgical group. Conclusion A high prevalence of psychiatric disorders was found among ethnic Chinese seeking obesity treatment. This is consistent with study results in the US and Europe.

  19. Psychiatric disorders and urbanization in Germany

    NARCIS (Netherlands)

    Dekker, J.J.M.; Peen, J.; Koelen, J.A.; Smit, H.F.E.; Schoevers, R.A.

    2008-01-01

    Background. Epidemiological studies over the last decade have supplied growing evidence of an association between urbanization and the prevalence of psychiatric disorders. Our aim was to examine the link between levels of urbanization and 12-month prevalence rates of psychiatric disorders in a

  20. Psychiatric disorders and urbanization in Germany

    NARCIS (Netherlands)

    Dekker, J.J.M.; Peen, J.; Koelen, J.A.; Smit, H.F.E.; Schoevers, R.A.

    2008-01-01

    Abstract Background Epidemiological studies over the last decade have supplied growing evidence of an association between urbanization and the prevalence of psychiatric disorders. Our aim was to examine the link between levels of urbanization and 12-month prevalence rates of psychiatric disorders in

  1. determining treatment levels of comorbid psychiatric conditions

    African Journals Online (AJOL)

    SITWALA COMPUTERS

    ABSTRACT. Background: Psychiatric co-morbidities occur more frequently in patients with epilepsy but are usually under- treated. Treatment of these disorders is key to reducing mortality via suicide and other causes. This study determined the levels of treatment of psychiatric co- morbidities at clinics in Lusaka, Zambia.

  2. Exploring the perceptions of psychiatric patients regarding ...

    African Journals Online (AJOL)

    2012-03-13

    Mar 13, 2012 ... of reducing the readmission of psychiatric patients following marijuana-induced psychosis. A qualitative ... The findings of this study include perceptions of psychiatric patients on the use of marijuana, the negative effects of marijuana .... to the nursing body of knowledge that cannot be obtained by any other ...

  3. Psychiatric disorders in women with fertility problems

    DEFF Research Database (Denmark)

    Baldur-Felskov, Birgitte; Kjaer, S K; Albieri, V

    2013-01-01

    Do women who don't succeed in giving birth after an infertility evaluation have a higher risk of psychiatric disorders compared with women who do?......Do women who don't succeed in giving birth after an infertility evaluation have a higher risk of psychiatric disorders compared with women who do?...

  4. Inappropriate involuntary admissions to psychiatric hospitals | van ...

    African Journals Online (AJOL)

    Inappropriate involuntary admissions to psychiatric hospitals. P L van der Merwe, A Allan, M M Allan. Abstract. Background. In order to preserve scarce resources, treabnent in tertiary psychiatric hospitals should be restricted to those whose treatment needs make admission to such hospitals essential. However, anecdotal ...

  5. Stress levels of psychiatric nursing staff

    NARCIS (Netherlands)

    Looff, P.C. de; Kuijpers, E.; Nijman, H.L.I.

    2014-01-01

    During a total of 30 shifts, the arousal levels of 10 psychiatric nurses were assessed while working on a (forensic) psychiatric admissions ward. Arousal was assessed by means of a small device (wristband) by which the Skin Conductance Level (SCL) of the participating nurses was monitored. Each

  6. Parental psychiatric hospitalisation and offspring schizophrenia

    DEFF Research Database (Denmark)

    Sørensen, Holger J; Mortensen, Erik L; Reinisch, June M

    2009-01-01

    The risk of schizophrenia has been linked with a family history of schizophrenia and less strongly with other psychiatric disorders in family members. Using data from the Copenhagen Perinatal Cohort and from the Danish Psychiatric Case Register, we studied the relationship between offspring risk...... of schizophrenia and a range of psychotic and non-psychotic psychiatric diagnoses in parents. Psychiatric admission data after 1969 were available for 7047 cohort members born between 1959 and 1961, and for 7006 mothers and 6993 fathers. Univariate analysis showed that neurosis, alcohol and substance dependence...... in both parents were associated with elevated risk of offspring schizophrenia; in addition, maternal schizophrenia, affective disorder and personality disorder were associated with elevated risk. Controlling for parental age, parental social status, and parental psychiatric co-diagnosis, offspring risk...

  7. Animal cruelty and psychiatric disorders.

    Science.gov (United States)

    Gleyzer, Roman; Felthous, Alan R; Holzer, Charles E

    2002-01-01

    Animal cruelty in childhood, although generally viewed as abnormal or deviant, for years was not considered symptomatic of any particular psychiatric disorder. Although animal cruelty is currently used as a diagnostic criterion for conduct disorder, research establishing the diagnostic significance of this behavior is essentially nonexistent. In the current study, investigators tested the hypothesis that a history of substantial animal cruelty is associated with a diagnosis of antisocial personality disorder (APD) and looked for associations with other disorders commonly diagnosed in a population of criminal defendants. Forty-eight subjects, criminal defendants who had histories of substantial animal cruelty, were matched with defendants without this history. Data were systematically obtained from the files by using four specifically designed data retrieval outlines. A history of animal cruelty during childhood was significantly associated with APD, antisocial personality traits, and polysubstance abuse. Mental retardation, psychotic disorders, and alcohol abuse showed no such association.

  8. Acupuncture therapy for psychiatric illness.

    Science.gov (United States)

    Pilkington, Karen

    2013-01-01

    Acupuncture has traditionally been used for problems including anxiety, insomnia, stress, and depression in China and other East Asian countries. A range of different neurobiological responses to acupuncture have been investigated including modulation of serotonergic, noradrenergic, and dopaminergic systems; effects on GABA and the hypothalamic-pituitary-adrenal axis; and inflammatory responses. Interpretation of the findings is challenging because the neurobiology of psychiatric disorders has yet to be fully elucidated. Limitations also arise from the use of animal models and the selection of appropriate control treatments. Further complexity is added by acupuncture treatment being nonstandardized with acupuncture points often selected on the basis on traditional practice and theory. Potentially promising findings require further investigation and substantiation. © 2013 Elsevier Inc. All rights reserved.

  9. Data mining in psychiatric research.

    Science.gov (United States)

    Tovar, Diego; Cornejo, Eduardo; Xanthopoulos, Petros; Guarracino, Mario R; Pardalos, Panos M

    2012-01-01

    Mathematical sciences and computational methods have found new applications in fields like medicine over the last few decades. Modern data acquisition and data analysis protocols have been of great assistance to medical researchers and clinical scientists. Especially in psychiatry, technology and science have made new computational methods available to assist the development of predictive modeling and to identify diseases more accurately. Data mining (or knowledge discovery) aims to extract information from large datasets and solve challenging tasks, like patient assessment, early mental disease diagnosis, and drug efficacy assessment. Accurate and fast data analysis methods are very important, especially when dealing with severe psychiatric diseases like schizophrenia. In this paper, we focus on computational methods related to data analysis and more specifically to data mining. Then, we discuss some related research in the field of psychiatry.

  10. Psychiatric features in perpetrators of homicide-unsuccessfulsuicide ...

    African Journals Online (AJOL)

    unsuccessful-suicide (HUS), those cases in which the perpetrator is referred for forensic psychiatric observation present an opportunity to explore psychiatric features pertaining to the event. Objective. To identify possible contributing psychiatric features ...

  11. Choking risk among psychiatric inpatients

    Directory of Open Access Journals (Sweden)

    Nagamine T

    2011-06-01

    Full Text Available Takahiko Nagamine1Division of Psychiatric Internal Medicine, Seiwakai-Kitsunan Hospital, Suzenji, JapanChoking is a life-threatening and not infrequent occurrence in psychiatric hospitals. There is, however, little information available about the risk factors or methods to prevent choking. We conducted a retrospective analysis of the 8 patients who had a cardiopulmonary arrest due to choking and received resuscitation at our hospital during the 6-year period from April 2005 to March 2011. The study involved 6 males and females, all of whom were patients with schizophrenia taking antipsychotics orally. They were aged from 56 to 79 (mean ± SD: 69.0 ± 7.5 years, with the duration of illness from 28 to 54 years (39.9 ± 7.9 years. In 6 of the 8 cases, choking was diagnosed immediately on the basis of the situation at the time of cardiopulmonary arrest. In the remaining 2 cases, cardiopulmonary arrest was initially unexplained, and choking was only diagnosed subsequently. Choking was caused by bread in all cases. Tracheal intubation was carried out in all cases and resulted in successful resuscitation, causing no subsequent change in functions compared with the prechoking condition. All 8 patients had been receiving multiple antipsychotics before the event (mean number of drugs used 2.5 ± 0.7, with a total dose level ranging from 600 to 1800 mg/day chlorpromazine equivalents (mean 1113 ± 341 mg/day. Seven of the 8 patients had mild to moderate involuntary movements, and 5 patients were diagnosed with antipsychotic-induced tardive dyskinesia. During the 5-year period before the choking event, 7 of the 8 patients had at least 1 treatment interruption, and some patients had up to 4 interruptions.

  12. Psychiatric comorbidities in patients with Atypical Odontalgia.

    Science.gov (United States)

    Miura, Anna; Tu, Trang T H; Shinohara, Yukiko; Mikuzuki, Lou; Kawasaki, Kaoru; Sugawara, Shiori; Suga, Takayuki; Watanabe, Takeshi; Watanabe, Motoko; Umezaki, Yojiro; Yoshikawa, Tatsuya; Motomura, Haruhiko; Takenoshita, Miho; Maeda, Hidefumi; Toyofuku, Akira

    2018-01-01

    Atypical Odontalgia (AO) is a condition characterized by tooth pain with no apparent cause. Although psychiatric comorbidity seems to be very common, it has rarely been studied. To clarify the influence of psychiatric comorbidity on the clinical features in patients with AO, we retrospectively evaluated their examination records. Clinical features and psychiatric diagnoses of 383 patients with AO were investigated by reviewing patients' medical records and referral letters. Psychiatric diagnoses were categorized according to the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5). We also analyzed visual analogue scale (VAS), self-rating depression scale (SDS), and the short-form McGill pain questionnaire (SF-MPQ) scores. Of the 383 patients with AO, 177 (46.2%) had comorbid psychiatric disorders. The most common were depressive disorders (15.4%) and anxiety disorders (10.1%). Serious psychotic disorders such as bipolar disorder (3.0%) and schizophrenia (1.8%) were rare. Dental trigger of AO was reported in 217 (56.7%) patients. There were no significant correlations between psychiatric comorbidities and most of the demographic features. Higher VAS and SDS scores, higher frequency of sleep disturbance, and higher ratings of "Fearful" and "Punishing-cruel" descriptors of the SF-MPQ were found in patients with psychiatric comorbidity. About half of AO patients had comorbid psychiatric disorders. Dental procedures are not necessarily causative factors of AO. In AO patients with comorbid psychiatric disorders, pain might have a larger emotional component than a sensory one. VAS, SDS, and SF-MPQ scores might aid in the noticing of underlying comorbid psychiatric disorders in AO patients. Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved.

  13. The more from East-Asian, the better: risk prediction of colorectal cancer risk by GWAS-identified SNPs among Japanese.

    Science.gov (United States)

    Abe, Makiko; Ito, Hidemi; Oze, Isao; Nomura, Masatoshi; Ogawa, Yoshihiro; Matsuo, Keitaro

    2017-12-01

    Little is known about the difference of genetic predisposition for CRC between ethnicities; however, many genetic traits common to colorectal cancer have been identified. This study investigated whether more SNPs identified in GWAS in East Asian population could improve the risk prediction of Japanese and explored possible application of genetic risk groups as an instrument of the risk communication. 558 Patients histologically verified colorectal cancer and 1116 first-visit outpatients were included for derivation study, and 547 cases and 547 controls were for replication study. Among each population, we evaluated prediction models for the risk of CRC that combined the genetic risk group based on SNPs from GWASs in European-population and a similarly developed model adding SNPs from GWASs in East Asian-population. We examined whether adding East Asian-specific SNPs would improve the discrimination. Six SNPs (rs6983267, rs4779584, rs4444235, rs9929218, rs10936599, rs16969681) from 23 SNPs by European-based GWAS and five SNPs (rs704017, rs11196172, rs10774214, rs647161, rs2423279) among ten SNPs by Asian-based GWAS were selected in CRC risk prediction model. Compared with a 6-SNP-based model, an 11-SNP model including Asian GWAS-SNPs showed improved discrimination capacity in Receiver operator characteristic analysis. A model with 11 SNPs resulted in statistically significant improvement in both derivation (P = 0.0039) and replication studies (P = 0.0018) compared with six SNP model. We estimated cumulative risk of CRC by using genetic risk group based on 11 SNPs and found that the cumulative risk at age 80 is approximately 13% in the high-risk group while 6% in the low-risk group. We constructed a more efficient CRC risk prediction model with 11 SNPs including newly identified East Asian-based GWAS SNPs (rs704017, rs11196172, rs10774214, rs647161, rs2423279). Risk grouping based on 11 SNPs depicted lifetime difference of CRC risk. This might be useful for

  14. Combining GWAS and RNA-Seq Approaches for Detection of the Causal Mutation for Hereditary Junctional Epidermolysis Bullosa in Sheep.

    Directory of Open Access Journals (Sweden)

    Aroa Suárez-Vega

    Full Text Available In this study, we demonstrate the use of a genome-wide association mapping together with RNA-seq in a reduced number of samples, as an efficient approach to detect the causal mutation for a Mendelian disease. Junctional epidermolysis bullosa is a recessive genodermatosis that manifests with neonatal mechanical fragility of the skin, blistering confined to the lamina lucida of the basement membrane and severe alteration of the hemidesmosomal junctions. In Spanish Churra sheep, junctional epidermolysis bullosa (JEB has been detected in two commercial flocks. The JEB locus was mapped to Ovis aries chromosome 11 by GWAS and subsequently fine-mapped to an 868-kb homozygous segment using the identical-by-descent method. The ITGB4, which is located within this region, was identified as the best positional and functional candidate gene. The RNA-seq variant analysis enabled us to discover a 4-bp deletion within exon 33 of the ITGB4 gene (c.4412_4415del. The c.4412_4415del mutation causes a frameshift resulting in a premature stop codon at position 1472 of the integrin β4 protein. A functional analysis of this deletion revealed decreased levels of mRNA in JEB skin samples and the absence of integrin β4 labeling in immunohistochemical assays. Genotyping of c.4412_4415del showed perfect concordance with the recessive mode of the disease phenotype. Selection against this causal mutation will now be used to solve the problem of JEB in flocks of Churra sheep. Furthermore, the identification of the ITGB4 mutation means that affected sheep can be used as a large mammal animal model for the human form of epidermolysis bullosa with aplasia cutis. Our approach evidences that RNA-seq offers cost-effective alternative to identify variants in the species in which high resolution exome-sequencing is not straightforward.

  15. Mutation of SH2B3 (LNK), a GWAS candidate for hypertension, attenuates Dahl SS hypertension via inflammatory modulation

    Science.gov (United States)

    Rudemiller, Nathan P.; Lund, Hayley; Priestley, Jessica R. C.; Endres, Bradley T.; Prokop, Jeremy W.; Jacob, Howard J.; Geurts, Aron M.; Cohen, Eric P.; Mattson, David L.

    2015-01-01

    Human genome wide association studies (GWAS) have linked SH2B3 (LNK) to hypertension and renal disease, though little experimental investigation has been done to verify a role for SH2B3 in these pathologies. SH2B3, a member of the SH2B adaptor protein family, is an intracellular adaptor protein that functions as a negative regulator in many signaling pathways, including inflammatory signaling processes. To explore a mechanistic link between SH2B3 and hypertension, we targeted the SH2B3 gene for mutation on the Dahl salt-sensitive (SS) rat genetic background with zinc-finger nucleases (ZFN). The resulting mutation was a 6 base-pair, in-frame deletion within a highly-conserved region of the Src Homology 2 (SH2) domain of SH2B3. This mutation significantly attenuated Dahl salt-sensitive (SS) hypertension and renal disease. Also, infiltration of leukocytes into the kidneys, a key mediator of Dahl SS pathology, was significantly blunted in the Sh2b3em1Mcwi mutant rats. To determine if this was due to differences in immune signaling, bone marrow transplant studies were performed in which Dahl SS and Sh2b3em1Mcwi mutants underwent total body irradiation and were then transplanted with Dahl SS or Sh2b3em1Mcwi mutant bone marrow. Rats that received Sh2b3em1Mcwi mutant bone marrow had a significant reduction in mean arterial pressure and kidney injury when placed on a high salt diet (4% NaCl). These data further support a role for the immune system as a modulator of disease severity in the pathogenesis of hypertension and provide insight into inflammatory mechanisms at play in human hypertension and renal disease. PMID:25776069

  16. Detection of favorable QTL alleles and candidate genes for lint percentage by GWAS in Chinese upland cotton

    Directory of Open Access Journals (Sweden)

    Shuxun Yu

    2016-10-01

    Full Text Available Improving cotton yield is a major breeding goal for Chinese upland cotton. Lint percentage is an important yield component and a critical economic index for cotton cultivars, and raising the lint percentage has a close relationship to improving cotton lint yield. To investigate the genetic architecture of lint percentage, a diversity panel consisting of 355 upland cotton accessions was grown, and the lint percentage was measured in four different environments. Genotyping was performed with specific-locus amplified fragment sequencing (SLAF-seq. Twelve single-nucleotide polymorphisms (SNPs associated with lint percentage were detected via a genome-wide association study (GWAS, in which five SNP loci distributed on chromosomes At3 (A02 and At4 (A08 and contained two major-effect QTLs, which were detected in the best linear unbiased predictions (BLUPs and in more than three environments simultaneously. Furthermore, favorable haplotypes (FHs of two major-effect QTLs and 47 putative candidate genes in the two linkage disequilibrium (LD blocks of these associated loci were identified. The expression levels of these putative candidate genes were estimated using RNA-seq data from ten upland cotton tissues. We found that Gh_A02G1268 was very highly expressed during the early fiber development stage, whereas the gene was poorly expressed in the seed. These results implied that Gh_A02G1268 may determine the lint percentage by regulating seed and fiber development. The favorable QTL alleles and candidate genes for lint percentage identified in this study will have high potential for improving lint yield in future Chinese cotton breeding programs.

  17. Risk of GWAS-identified genetic variants for breast cancer in a Chinese population: a multiple interaction analysis.

    Science.gov (United States)

    Chen, Wei; Song, Haiping; Zhong, Rong; Zhu, Beibei; Guo, Hui; Lou, Jiao; Shen, Na; Li, Jiaoyuan; Chen, Xueqin; Liu, Cheng; Ming, Jie; Huang, Tao; Miao, Xiaoping

    2013-12-01

    Genome-wide association studies (GWASs) of breast cancer (BC) have identified multiple risk variants. However, the multiple interactions among these variants are still not well established. In this study, we utilized the multi-analytic strategy combing random forest (RF), multifactor dimensionality reduction (MDR), and logistic regression approaches to investigate the high-order interactions among ten genetic variants recently identified by GWAS in 477 BC patients and 534 healthy controls. Expectedly, six variants, rs1219648, rs3757318, rs1926657, rs6556756, rs2046210, and rs4973768, were significantly associated with BC risk under independent analysis. In RF analysis, rs3757318, rs2046210, and rs4973768 were ranked as the top three important risk factors and were selected as the best set which taking interactions into consideration. Subsequently, the MDR analysis of the ten variants found that the three-factor model including rs3757318, rs2046210, and rs4973768 interpret the best interaction model with the maximized testing accuracy of 0.6183 and cross-validation consistency of 10/10. Intriguingly, cumulative effect was observed in the manner of dose-dependent with increasing numbers of risk alleles (P(trend) = 9.80 × 10(-5)), and the individuals carrying 4-6 risk alleles had a threefold higher risk of BC than carrying 0 risk alleles (OR 3.27, 95 % CI 1.96-5.48). Our findings emphasized the proof of principle that multiple interactions of genetic variants, including rs3757318, rs2046210, and rs4973768 may play important roles in the susceptibility of BC though the biological mechanisms underlying the observed associations need to be elucidated.

  18. A genetic predictive model for canine hip dysplasia: integration of Genome Wide Association Study (GWAS) and candidate gene approaches.

    Science.gov (United States)

    Bartolomé, Nerea; Segarra, Sergi; Artieda, Marta; Francino, Olga; Sánchez, Elisenda; Szczypiorska, Magdalena; Casellas, Joaquim; Tejedor, Diego; Cerdeira, Joaquín; Martínez, Antonio; Velasco, Alfonso; Sánchez, Armand

    2015-01-01

    Canine hip dysplasia is one of the most prevalent developmental orthopedic diseases in dogs worldwide. Unfortunately, the success of eradication programs against this disease based on radiographic diagnosis is low. Adding the use of diagnostic genetic tools to the current phenotype-based approach might be beneficial. The aim of this study was to develop a genetic prognostic test for early diagnosis of hip dysplasia in Labrador Retrievers. To develop our DNA test, 775 Labrador Retrievers were recruited. For each dog, a blood sample and a ventrodorsal hip radiograph were taken. Dogs were divided into two groups according to their FCI hip score: control (A/B) and case (D/E). C dogs were not included in the sample. Genetic characterization combining a GWAS and a candidate gene strategy using SNPs allowed a case-control population association study. A mathematical model which included 7 SNPs was developed using logistic regression. The model showed a good accuracy (Area under the ROC curve = 0.85) and was validated in an independent population of 114 dogs. This prognostic genetic test represents a useful tool for choosing the most appropriate therapeutic approach once genetic predisposition to hip dysplasia is known. Therefore, it allows a more individualized management of the disease. It is also applicable during genetic selection processes, since breeders can benefit from the information given by this test as soon as a blood sample can be collected, and act accordingly. In the authors' opinion, a shift towards genomic screening might importantly contribute to reducing canine hip dysplasia in the future. In conclusion, based on genetic and radiographic information from Labrador Retrievers with hip dysplasia, we developed an accurate predictive genetic test for early diagnosis of hip dysplasia in Labrador Retrievers. However, further research is warranted in order to evaluate the validity of this genetic test in other dog breeds.

  19. A genetic predictive model for canine hip dysplasia: integration of Genome Wide Association Study (GWAS and candidate gene approaches.

    Directory of Open Access Journals (Sweden)

    Nerea Bartolomé

    Full Text Available Canine hip dysplasia is one of the most prevalent developmental orthopedic diseases in dogs worldwide. Unfortunately, the success of eradication programs against this disease based on radiographic diagnosis is low. Adding the use of diagnostic genetic tools to the current phenotype-based approach might be beneficial. The aim of this study was to develop a genetic prognostic test for early diagnosis of hip dysplasia in Labrador Retrievers. To develop our DNA test, 775 Labrador Retrievers were recruited. For each dog, a blood sample and a ventrodorsal hip radiograph were taken. Dogs were divided into two groups according to their FCI hip score: control (A/B and case (D/E. C dogs were not included in the sample. Genetic characterization combining a GWAS and a candidate gene strategy using SNPs allowed a case-control population association study. A mathematical model which included 7 SNPs was developed using logistic regression. The model showed a good accuracy (Area under the ROC curve = 0.85 and was validated in an independent population of 114 dogs. This prognostic genetic test represents a useful tool for choosing the most appropriate therapeutic approach once genetic predisposition to hip dysplasia is known. Therefore, it allows a more individualized management of the disease. It is also applicable during genetic selection processes, since breeders can benefit from the information given by this test as soon as a blood sample can be collected, and act accordingly. In the authors' opinion, a shift towards genomic screening might importantly contribute to reducing canine hip dysplasia in the future. In conclusion, based on genetic and radiographic information from Labrador Retrievers with hip dysplasia, we developed an accurate predictive genetic test for early diagnosis of hip dysplasia in Labrador Retrievers. However, further research is warranted in order to evaluate the validity of this genetic test in other dog breeds.

  20. A University Consortium on Homogeneous Charge Compression Ignition Engine Research

    Energy Technology Data Exchange (ETDEWEB)

    Assanis, Dennis; Atreya, Arvind; Bowman, Craig; Chen, Jyh-Yuan; Cheng, Wai; Davidson, David; Dibble, Robert; Edwards, Chris; Filipi, Zoran; Golden, David; Green, William; Hanson, Ronald; Hedrick, J Karl; Heywood, John; Im, Hong; Lavoie, George; Sick, Volker; Wooldridge, Margaret

    2007-03-31

    Over the course of this four year project, the consortium team members from UM, MIT, Stanford, and Berkeley along with contributors from Sandia National Labs and LLNL, have produced a wide range of results on gasoline HCCI control and implementation. The work spanned a wide range of activities including engine experiments, fundamental chemical kinetics experiments, and an array of analytical modeling techniques and simulations. Throughout the project a collaborative approach has produced a many significant new insights into HCCI engines and their behavior while at the same time we achieved our key consortium goal: to develop workable strategies for gasoline HCCI control and implementation. The major accomplishments in each task are summarized, followed by detailed discussion.

  1. p-Cresol mineralization by a nitrifying consortium

    Energy Technology Data Exchange (ETDEWEB)

    Silva-Luna, C. D.; Gomez, J.; Houbron, E.; Cuervo Lopez, F. M.; Texier, A. C.

    2009-07-01

    Nitrification and denitrification processes are considered economically feasible technologies for nitrogen removal from wastewater. Knowledge of the toxic or inhibitory effects of cresols on the nitrifying respiratory process is still insufficient. The aim of this study was to evaluate the kinetic behavior and oxidizing ability of a nitrifying consortium exposed to p-cresol in batch cultures. Biotransformation of p-cresol was investigated by identifying the different intermediates formed. (Author)

  2. University of Washington Prostate Cancer Clinical Trials Consortium Application

    Science.gov (United States)

    2011-04-01

    Sylvie Aubin, PhD Fad diets and dietary supplements for prostate cancer. What works and what doesn’t? Mark Moyad, MD Agenda is subject...Higano discussed the immunotherapy trials within the Consortium. In a “Meet the Expert” session, she spoke on the side effects of androgen...Hsp27. This Phase 2 study has been designed to evaluate the anti-tumor effects of OGX-427 plus low-dose prednisone versus low dose prednisone

  3. FLYSUB-Consortium Tracking and RICH Performance Evaluation

    Energy Technology Data Exchange (ETDEWEB)

    Soha, Aria [Fermi National Accelerator Lab. (FNAL), Batavia, IL (United States); Azumoun, Bob [Brookhaven National Lab. (BNL), Upton, NY (United States); Blatnik, Marie [Brookhaven National Lab. (BNL), Upton, NY (United States); Pak, Robert [Brookhaven National Lab. (BNL), Upton, NY (United States); Purschke, Martin [Brookhaven National Lab. (BNL), Upton, NY (United States); Di Ruzza, Benedetto [Brookhaven National Lab. (BNL), Upton, NY (United States); Woody, Craig [Brookhaven National Lab. (BNL), Upton, NY (United States); Bhopatkar, Vallary [Florida Inst. of Technology, Melbourne, FL (United States); Hohlmann, Marcus [Florida Inst. of Technology, Melbourne, FL (United States); Twigger, Jessie [Florida Inst. of Technology, Melbourne, FL (United States); Zhang, Aiwu [Florida Inst. of Technology, Melbourne, FL (United States); Dehmelt, Klaus [Stony Brook Univ., NY (United States); Deshpande, Abhay [Stony Brook Univ., NY (United States); Feege, Nils [Stony Brook Univ., NY (United States); Hemmick, Thomas [Stony Brook Univ., NY (United States); Bai, Xinzhang [Univ. of Virginia, Charlottesville, VA (United States); Gnanvo, Kondo [Univ. of Virginia, Charlottesville, VA (United States); Gu, Chao [Univ. of Virginia, Charlottesville, VA (United States); Liyanage, Nilanga [Univ. of Virginia, Charlottesville, VA (United States); Majka, Richard [Yale Univ., New Haven, CT (United States); Smirnov, Nikolai [Yale Univ., New Haven, CT (United States)

    2013-09-23

    This is a technical scope of work (TSW) between the Fermi National Accelerator Laboratory (Fermilab) and the experiments of FLYSUB-Consortium who have committed to participate in beam tests to be carried out during the 2013-2014 Fermilab Test Beam Facility program. The ultimate goal of this test-beam effort is to test and verify the performance of the individual components according to their expectation.

  4. The Toxicology Investigators Consortium Case Registry—The 2012 Experience

    OpenAIRE

    Wiegand, Timothy; Wax, Paul; Smith, Eric; Hart, Katherine; Brent, Jeffrey

    2013-01-01

    In 2010, the American College of Medical Toxicology (ACMT) established its Case Registry, the Toxicology Investigators Consortium (ToxIC). All cases are entered prospectively and include only suspected and confirmed toxic exposures cared for at the bedside by board-certified or board-eligible medical toxicologists at its participating sites. The primary aims of establishing this Registry include the development of a realtime toxico-surveillance system in order to identify and describe current...

  5. Soutien institutionnel au Consortium pour la recherche économique ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    Le Consortium pour la recherche économique et sociale (CRES) est une équipe de chercheurs pluridisciplinaire établie à Dakar, au Sénégal. Il compte cinq départements : Croissance et équité; Développement local, intégration régionale et mondialisation; Économie des ressources humaines; Secteur rural; Économie de ...

  6. Biodegradation of chlorpyrifos by bacterial consortium isolated from agriculture soil.

    Science.gov (United States)

    Sasikala, Chitrambalam; Jiwal, Sonia; Rout, Pallabi; Ramya, Mohandass

    2012-03-01

    Organophosphorous pesticides are widely used in agriculture to control major insect pests. Chlorpyrifos is one of the major organophosphorous pesticides which is used to control insects including termites, beetles. The widespread use of these pesticides is hazardous to the environment and also toxic to mammals, thus it is essential to remove the same from the environment. From the chlorpyrifos contaminated soil nine morphologically different bacterial strains, one actinomycete and two fungal strains were isolated. Among those isolates four bacterial strains which were more efficient were developed as consortium. The four bacterial isolates namely Pseudomonas putida (NII 1117), Klebsiella sp., (NII 1118), Pseudomonas stutzeri (NII 1119), Pseudomonas aeruginosa (NII 1120) present in the consortia were identified on the basis of 16S rDNA analysis. The intracellular fractions of the consortium exhibited more organophosphorus hydrolase activity (0.171 ± 0.003 U/mL/min). The degradation studies were carried out at neutral pH and temperature 37°C with chlorpyrifos concentration 500 mg L(-1). LC-mass spectral analysis showed the presence of metabolites chlopyrifos-oxon and Diethylphosphorothioate. These results highlight an important potential use of this consortium for the cleanup of chlorpyrifos contaminated pesticide waste in the environment.

  7. Connectomics in psychiatric research: advances and applications

    Directory of Open Access Journals (Sweden)

    Cao M

    2015-10-01

    Full Text Available Miao Cao,* Zhijiang Wang,* Yong He State Key Laboratory of Cognitive Neuroscience and Learning and IDG/McGovern Institute for Brain Research, Beijing Normal University, Beijing, People’s Republic of China *These authors contributed equally to this work Abstract: Psychiatric disorders disturb higher cognitive functions and severely compromise human health. However, the pathophysiological mechanisms underlying psychiatric disorders are very complex, and understanding these mechanisms remains a great challenge. Currently, many psychiatric disorders are hypothesized to reflect “faulty wiring” or aberrant connectivity in the brains. Imaging connectomics is arising as a promising methodological framework for describing the structural and functional connectivity patterns of the human brain. Recently, alterations of brain networks in the connectome have been reported in various psychiatric disorders, and these alterations may provide biomarkers for disease diagnosis and prognosis for the evaluation of treatment efficacy. Here, we summarize the current achievements in both the structural and functional connectomes in several major psychiatric disorders (eg, schizophrenia, attention-deficit/hyperactivity disorder, and autism based on multi-modal neuroimaging data. We highlight the current progress in the identification of these alterations and the hypotheses concerning the aberrant brain networks in individuals with psychiatric disorders and discuss the research questions that might contribute to a further mechanistic understanding of these disorders from a connectomic perspective.Keywords: psychiatric disorders, connectome, graph theory, functional connectivity, structural connectivity

  8. Psychiatric phenotypes in chronic traumatic encephalopathy.

    Science.gov (United States)

    Mahar, Ian; Alosco, Michael L; McKee, Ann C

    2017-09-06

    Chronic traumatic encephalopathy (CTE) is a neurodegenerative disorder involving cognitive, motor, and psychiatrically-relevant symptoms resulting from repetitive head impacts. Psychiatric phenotypes of CTE, including depression and suicidality, present particular challenges for CTE research, given that the diagnosis requires postmortem neuropathological examination. The pathognomonic lesion of CTE is the perivascular accumulation of hyperphosphorylated tau (ptau) protein at the depths of cortical sulci. These lesions are found in the earliest disease stages, and with advancing pathological severity, ptau deposition occurs in widespread brain regions in a four-stage scheme of severity. We review the psychiatric phenotypes of individuals neuropathologically diagnosed with CTE, and suggest that earlier CTE stages hold particular interest for psychiatric CTE research. In the early CTE stages, there is ptau pathology in frontal cortex and axonal loss in the frontal white matter, followed by progressive ptau neurofibrillary degeneration in the amygdala and hippocampus. Neuropathological changes in the frontal and medial temporal lobes may underlie psychiatric phenotypes. Additional insight into the association between CTE pathology and psychiatric sequelae may come from advancements in in vivo methods of CTE detection. Further epidemiological, clinical, and postmortem studies are needed to validate the nature of psychiatric sequelae in CTE. Copyright © 2017. Published by Elsevier Ltd.

  9. [Promoting "successful aging" in community psychiatric care].

    Science.gov (United States)

    Niimura, Hidehito; Nemoto, Takahiro; Sakuma, Kei; Mizuno, Masafumi

    2011-01-01

    Recently, patients with schizophrenia have been progressively aging in a way similar to that of the general population. In Japan, community mental health care has become more active in the context of the policy of promoting the discharge of patients from psychiatric hospitals. Patients with chronic schizophrenia who have been discharged are already approaching old age. "Successful aging" may be a key concept in their community-based psychiatric care. Successful aging does not emphasize a loss of youth, but focuses on gains and growth achieved with aging. In the Sasagawa Project, 78 patients with schizophrenia were gradually transferred from a psychiatric hospital to a community dwelling. Eight years have passed since the project began. Elder patients (>60 years old) showed stable psychiatric symptoms and were rarely readmitted to the psychiatric ward. They were, however, more often readmitted to hospital due to physical disease (for example, lifestyle-related disease or fracture) than were middle -aged patients (aging, but they are not sufficiently prepared for old age. In the mental health care of aging psychiatric patients, it is necessary to not only control psychiatric symptoms, but also promote and improve their quality of life by maintaining their ability to continue living in the community (for example, by supporting their preparations for old age).

  10. The checkered history of American psychiatric epidemiology.

    Science.gov (United States)

    Horwitz, Allan V; Grob, Gerald N

    2011-12-01

    American psychiatry has been fascinated with statistics ever since the specialty was created in the early nineteenth century. Initially, psychiatrists hoped that statistics would reveal the benefits of institutional care. Nevertheless, their fascination with statistics was far removed from the growing importance of epidemiology generally. The impetus to create an epidemiology of mental disorders came from the emerging social sciences, whose members were concerned with developing a scientific understanding of individual and social behavior and applying it to a series of pressing social problems. Beginning in the 1920s, the interest of psychiatric epidemiologists shifted to the ways that social environments contributed to the development of mental disorders. This emphasis dramatically changed after 1980 when the policy focus of psychiatric epidemiology became the early identification and prevention of mental illness in individuals. This article reviews the major developments in psychiatric epidemiology over the past century and a half. The lack of an adequate classification system for mental illness has precluded the field of psychiatric epidemiology from providing causal understandings that could contribute to more adequate policies to remediate psychiatric disorders. Because of this gap, the policy influence of psychiatric epidemiology has stemmed more from institutional and ideological concerns than from knowledge about the causes of mental disorders. Most of the problems that have bedeviled psychiatric epidemiology since its inception remain unresolved. In particular, until epidemiologists develop adequate methods to measure mental illnesses in community populations, the policy contributions of this field will not be fully realized. © 2011 Milbank Memorial Fund.

  11. 25 CFR 1000.281 - Does FTCA cover employees of the Tribe/Consortium who are paid by the Tribe/Consortium from funds...

    Science.gov (United States)

    2010-04-01

    ... services out of which the claim arose were performed in carrying out the self-governance AFA. ... 25 Indians 2 2010-04-01 2010-04-01 false Does FTCA cover employees of the Tribe/Consortium who are paid by the Tribe/Consortium from funds other than those provided through the self-governance AFA? 1000...

  12. Psychiatric disorder in male veterans and nonveterans.

    Science.gov (United States)

    Norquist, G S; Hough, R L; Golding, J M; Escobar, J I

    1990-05-01

    Prevalences of Diagnostic Interview Schedule/DSM-III psychiatric disorders for male veterans and nonveterans from four war eras were estimated using data from over 7500 male community respondents interviewed by the Epidemiologic Catchment Area program at five geographic areas across the country. Veterans serving after Vietnam (Post-Vietnam era) had greater lifetime and 6-month prevalences of psychiatric disorder than their nonveteran counterparts, whereas the reverse tended to be the case for the Vietnam, Korean, and World War II war eras. Comparisons across war eras revealed a trend for more psychiatric disorder, especially substance abuse, in younger veterans and nonveterans than in older respondents.

  13. Workroles of staff nurses in psychiatric settings.

    Science.gov (United States)

    Morrison, E G; Shealy, A H; Kowalski, C; LaMont, J; Range, B A

    1996-01-01

    The purpose of this research was to operationalize Peplau's workroles of the psychiatric staff nurse. Thirty registered nurses audiotaped one-to-one interactions with 62 adult, child, and adolescent psychiatric patients. Content analysis was used to identify role behaviors and to identify roles that were different from those outlined by Peplau. The counselor role was the most frequently occurring primary workrole. Overlap was found between behaviors indicative of autocratic leader versus surrogate and those of resource person versus teacher. The findings supported Peplau's contention that the counselor role is central to the practice of psychiatric nursing.

  14. Cyberbullying: implications for the psychiatric nurse practitioner.

    Science.gov (United States)

    Carpenter, Lindsey M; Hubbard, Grace B

    2014-08-01

    The purpose of this article is to inform and educate psychiatric nurse practitioners about the pervasiveness of the rapidly increasing problem of cyberbullying. As more children and adolescents obtain access to the Internet, mobile devices, and social networking sites, the exposure to bullying in the virtual format increases. Cyberbullying is a growing public health concern and can affect mental health and school performance. Cyberbullying often results in a range of psychiatric symptoms and has been linked to suicide attempts and completions. The psychiatric nurse practitioner is uniquely prepared to provide a range of interventions for patients, families, and communities who have experienced cyberbullying. © 2014 Wiley Periodicals, Inc.

  15. Substance use among Danish psychiatric patients

    DEFF Research Database (Denmark)

    Sørensen, Tina; Jespersen, Hans Søe Riis; Vinberg, Maj

    2017-01-01

    equivalents. Compared to the general population, the psychiatric patients had higher odds of being current smokers and having used illicit drugs within the past month. Women with psychiatric disorders were twice as likely to binge drink on a monthly basis. No significant difference was found in the patients......, 412 psychiatric patients participated in the study, and 33% had an AUDIT-score ≥8, indicating problematic alcohol use according to the AUDIT guidelines. The mean weekly alcohol intake was 9.7 ± 28.3 standard drinks, and 47% were current smokers with a mean daily use of 19.9 ± 13.8 cigarette...

  16. Indian - American contributions to psychiatric research.

    Science.gov (United States)

    Pandurangi, Anand K

    2010-01-01

    The Indian Diaspora, especially in North America, is a visible force in the field of psychiatric medicine. An estimated 5000 persons of Indian origin practice psychiatry in the USA and Canada, and an estimated 10% of these are in academic psychiatry. Wide ranging contributions, from molecular biology of psychiatric disorders to community and cultural psychiatry, are being made by this vibrant group of researchers. This article is a brief summary and work-in-progress report of the contributions by Indian - American psychiatric researchers. Although not exhaustive in coverage, it is meant to give the reader an overview of the contributions made by three waves of researchers over a span of 50 years.

  17. Technological Advances in Psychiatric Nursing: An update.

    Science.gov (United States)

    Bostrom, Andrea C

    2016-06-01

    Understanding and treating mental illness has improved in many ways as a result of the fast pace of technological advances. The technologies that have the greatest potential impact are those that (1) increase the knowledge of how the brain functions and changes based on interventions, (2) have the potential to personalize interventions based on understanding genetic factors of drug metabolism and pharmacodynamics, and (3) use information technology to provide treatment in the absence of an adequate mental health workforce. Technologies are explored for psychiatric nurses to consider. Psychiatric nurses are encouraged to consider the experiences of psychiatric patients, including poor health, stigmatization, and suffering. Copyright © 2016 Elsevier Inc. All rights reserved.

  18. PSYCHIATRIC MORBIDITY IN A CHILDREN'S HOME1

    Science.gov (United States)

    Chaturvedi, P. K.; Agarwal, A. K; Gupta, S. C.

    1980-01-01

    SUMMARY Sixty-two inmates of a children's home were examined by using a symptom check list and Hindi adaptation of Stanford Binet Intelligence Scale—Form LM (1960). A high proportion (69.4%) of the inmates had one or other psychiatric problem. Mild mental retardation (I. Q. 50—70) was most common (40.3%), 11.3% were diagnosed as having unsocialized disturbance of conduct. Four most common psychiatric symptoms were stealing, quarrelsome behaviour, destructive behaviour and bed wetting. No significant correlation was found between psychiatric illnesses and present age, duration of stay and age at entry into the home. PMID:22058478

  19. Psychiatric aspects of chronic lung disease.

    Science.gov (United States)

    Jain, Abhishek; Lolak, Sermsak

    2009-06-01

    Chronic lung diseases continue to be common and cause significant morbidity and mortality. There is a complex interplay between psychiatric issues and pulmonary diseases. This review aims to summarize the recent literature and advances involving psychiatric aspects of lung diseases, including chronic obstructive pulmonary disease, asthma, restrictive lung disease, and cystic fibrosis. The authors include the latest findings in epidemiology, impact, etiology, screening, and management of psychiatric and pulmonary comorbidity. The relationship between mental health and lung disease, as it is between mental health and other physical illnesses, is multifactorial. Further studies continue to clarify issues and treatment guidelines for this comorbidity.

  20. Identifying Specific Clinical Symptoms of Behavioral Variant Frontotemporal Dementia Versus Differential Psychiatric Disorders in Patients Presenting With a Late-Onset Frontal Lobe Syndrome.

    Science.gov (United States)

    Dols, Annemiek; van Liempt, Saskia; Gossink, Flora; Krudop, Welmoed A; Sikkes, Sietske; Pijnenburg, Yolande A L; Stek, Max L

    2016-10-01

    Early differentiation between psychiatric disorders and behavioral variant frontotemporal dementia (bvFTD) is of paramount importance in patients with the late-onset frontal lobe syndrome. As bvFTD in patients will deteriorate, psychiatric disorders are treatable. To date, misdiagnosis often occurs due to an overlap of symptoms and lack of specific biomarkers. The aim of our study was to investigate whether specific symptoms could separate bvFTD from psychiatric disorders. In a naturalistic, prospective, multicenter study, 137 patients (aged 45-75 years, 72% male) with a late-onset frontal lobe syndrome were included based on their scores on the Frontal Behavioral Inventory (FBI) and the Stereotypy Rating Inventory (SRI) from April 2011 to June 2013. In a multidisciplinary consensus meeting, diagnoses were established based on elaborate neuropsychological testing, magnetic resonance imaging, fludeoxyglucose F 18 positron emission tomography, cerebrospinal fluid biomarkers, and clinical examination by a neurologist and a psychiatrist based on the International bvFTD Criteria Consortium for bvFTD and DSM-IV-TR criteria for psychiatric disorders. Forty-four subjects (32.8%) were diagnosed with a psychiatric disorder, 10 (7.3%) with possible bvFTD, and 45 (32.8%) with probable bvFTD. A logistic regression analysis was performed with "psychiatry or bvFTD" as dependent variable and clinical variables (Montgomery-Asberg Depression Rating Scale [MADRS], SRI, FBI) and demographics as independent variables. A positive history of psychiatric illness, male gender, lower SRI scores and higher MADRS scores were predictive of psychiatric disorders, explaining 65.2% of the variance in diagnosis of psychiatry versus bvFTD (χ²₅ = 60.04, P onset frontal lobe syndrome may aid in differentiating bvFTD patients from psychiatric patients and may provide guidance in patient management.

  1. Subjectivity and severe psychiatric disorders.

    Science.gov (United States)

    Strauss, John

    2011-01-01

    To have a complete human science in the mental health field it is essential to give adequate attention to both the objective and the subjective data related to people with psychiatric disorders. The tendency in the past has been to ignore or discount one or the other of these data sources. Subjective data are particularly neglected, sometimes considered (only) part of the "art" of medicine since the usual methodologies of the physical sciences in themselves are not adequate to reflect the nature, elusiveness, and complexity of human subjective experience. The complete experience of hallucinated voices, for instance, often includes not only the voices themselves but also terrible anguish and terrifying inability to concentrate. But even such descriptors fall unnecessarily short of reflecting the data of the experience, thus leaving research, theory, and treatment with incomplete information. To represent adequately the subjective data it is essential to recognize that besides the usual discursive knowledge and methods of traditional physical science, a second kind of knowledge and method is required to reflect the depth of human experience. To accomplish this, we must employ approaches to narrative and the arts that are uniquely capable of capturing the nature of these experiences. Only by attending seriously in our research, training, theory, and practice to the unique nature of subjective data is it possible to have a true human science for our field.

  2. [Current issues in psychiatric ethics].

    Science.gov (United States)

    Kovács, József

    2015-01-01

    The article analyzes some ethical problems in psychiatry that have been emerging in recent years. It deals with the ongoing intensive debates about the DSM-5 before its publication, and with some of the criticisms of the DSM-5 itself. Then it goes on to analyze the use of placebo. This is followed by the ethical problems of the treatment of ADHD with stimulant drugs, among which one is the question of authenticity, namely whether the pre-treatment or the post-treatment personality is the real, authentic self of the patient. This question has been raised not only in the case of the ADHD, but also in relation with the antidepressant treatment of depression earlier, and in relation with deep brain stimulation and dopamine replacement therapy now, all of which causes changes in the treated patient's personality and motivations. Finally the article describes some ethical problems of informed consent in the case of antidepressant medication, together with the necessity to involve psychiatric nurses and rating scales in the assessment of the patient's decision making capacity.

  3. Heritability and Genome-Wide Association Analyses of Sleep Duration in Children: The EAGLE Consortium.

    Science.gov (United States)

    Marinelli, Marcella; Pappa, Irene; Bustamante, Mariona; Bonilla, Carolina; Suarez, Anna; Tiesler, Carla M; Vilor-Tejedor, Natalia; Zafarmand, Mohammad Hadi; Alvarez-Pedrerol, Mar; Andersson, Sture; Bakermans-Kranenburg, Marian J; Estivill, Xavier; Evans, David M; Flexeder, Claudia; Forns, Joan; Gonzalez, Juan R; Guxens, Monica; Huss, Anke; van IJzendoorn, Marinus H; Jaddoe, Vincent W V; Julvez, Jordi; Lahti, Jari; López-Vicente, Mónica; Lopez-Espinosa, Maria-Jose; Manz, Judith; Mileva-Seitz, Viara R; Perola, Markus; Pesonen, Anu-Katriina; Rivadeneira, Fernando; Salo, Perttu P; Shahand, Shayan; Schulz, Holger; Standl, Marie; Thiering, Elisabeth; Timpson, Nicholas J; Torrent, Maties; Uitterlinden, André G; Smith, George Davey; Estarlich, Marisa; Heinrich, Joachim; Räikkönen, Katri; Vrijkotte, Tanja G M; Tiemeier, Henning; Sunyer, Jordi

    2016-10-01

    Low or excessive sleep duration has been associated with multiple outcomes, but the biology behind these associations remains elusive. Specifically, genetic studies in children are scarce. In this study, we aimed to: (1) estimate the proportion of genetic variance of sleep duration in children attributed to common single nucleotide polymorphisms (SNPs), (2) identify novel SNPs associated with sleep duration in children, and (3) investigate the genetic overlap of sleep duration in children and related metabolic and psychiatric traits. We performed a population-based molecular genetic study, using data form the EArly Genetics and Life course Epidemiology (EAGLE) Consortium. 10,554 children of European ancestry were included in the discovery, and 1,250 children in the replication phase. We found evidence of significant but modest SNP heritability of sleep duration in children (SNP h(2) 0.14, 95% CI [0.05, 0.23]) using the LD score regression method. A novel region at chromosome 11q13.4 (top SNP: rs74506765, P = 2.27e-08) was associated with sleep duration in children, but this was not replicated in independent studies. Nominally significant genetic overlap was only found (rG = 0.23, P = 0.05) between sleep duration in children and type 2 diabetes in adults, supporting the hypothesis of a common pathogenic mechanism. The significant SNP heritability of sleep duration in children and the suggestive genetic overlap with type 2 diabetes support the search for genetic mechanisms linking sleep duration in children to multiple outcomes in health and disease.

  4. Service dogs, psychiatric hospitalization, and the ADA.

    Science.gov (United States)

    Muramatsu, Russ S; Thomas, Kelly Jones; Leong, Stephanie L; Ragukonis, Frank

    2015-01-01

    A service dog is defined as "any dog that is individually trained to do work or perform tasks for the benefit of an individual with a disability, including a physical, sensory, psychiatric, intellectual, or other mental disability." Some psychiatric patients may depend on a service dog for day-to-day functioning. The Americans with Disabilities Act (ADA) established certain rights and responsibilities for individuals with disabilities and health care providers. Psychiatric hospitalization of a patient with a service dog may pose a problem and involves balancing the requirement to provide safe and appropriate psychiatric care with the rights of individuals with disabilities. This Open Forum examines issues that arise in such circumstances, reviews the literature, and provides a foundation for the development of policies and procedures.

  5. Service Dogs, Psychiatric Hospitalization, and the ADA

    National Research Council Canada - National Science Library

    Muramatsu, Russ S; Thomas, Kelly Jones; Leong, Stephanie L; Ragukonis, Frank

    A service dog is defined as “any dog that is individually trained to do work or perform tasks for the benefit of an individual with a disability, including a physical, sensory, psychiatric, intellectual, or other mental disability...

  6. Barriers in the treatment of psychiatric disorders

    Directory of Open Access Journals (Sweden)

    Anil Kumar

    2016-07-01

    Full Text Available Psychiatric illnesses are very common in prevalence. But not everyone who has a mental illness gets a psychiatric consultation. The causes are many. First, many time people don’t recognise and accept mental illnesses in them as a result of lack of insight and awareness. Secondly, even if they know they have a mental illness, they don’t feel comfortable in disclosing it. Third, after knowing that they have some problems which require help from a doctor, they don’t know whom to consult, where to consult, and how to consult. Fourth, in spite of all possible awareness, there may not be psychiatric facilities nearby. Thus, it becomes utmost necessary to discuss those factors which stop people with psychiatric illnesses to get adequate help so that remedial steps could be taken.

  7. Psychiatric nosology and taxonomy in ancient India.

    Science.gov (United States)

    Haldipur, C V

    1989-08-01

    This article considers the nosology and taxonomy of psychiatric disorders in Sushruta Samhita, an ancient Indian treatise on medicine. Some implications of this treatise for modern psychiatry are discussed.

  8. Chromosomal abnormalities in a psychiatric population

    Energy Technology Data Exchange (ETDEWEB)

    Lewis, K.E.; Lubetsky, M.J.; Wenger, S.L.; Steele, M.W. [Univ. of Pittsburgh Medical Center, PA (United States)

    1995-02-27

    Over a 3.5 year period of time, 345 patients hospitalized for psychiatric problems were evaluated cytogenetically. The patient population included 76% males and 94% children with a mean age of 12 years. The criteria for testing was an undiagnosed etiology for mental retardation and/or autism. Cytogenetic studies identified 11, or 3%, with abnormal karyotypes, including 4 fragile X positive individuals (2 males, 2 females), and 8 with chromosomal aneuploidy, rearrangements, or deletions. While individuals with chromosomal abnormalities do not demonstrate specific behavioral, psychiatric, or developmental problems relative to other psychiatric patients, our results demonstrate the need for an increased awareness to order chromosomal analysis and fragile X testing in those individuals who have combinations of behavioral/psychiatric, learning, communication, or cognitive disturbance. 5 refs., 1 fig., 2 tabs.

  9. Forensic Psychiatric Aspects of Impulse Control Disorders

    Directory of Open Access Journals (Sweden)

    Huseyin Soysal

    2015-03-01

    Full Text Available Impulse control disorders is an important psychiatric disorder group which draws attention in recent years. Attention deficit hyperactivity disorder and other classical disorders like pyromania, kleptomania, intermittent explosive disorder and compulsive buying could be evasuated under this topic. The aim of this article is to review forensic psychiatric aspects of impulse control disorders and evaluate the disorders in terms of their legal status. [Psikiyatride Guncel Yaklasimlar - Current Approaches in Psychiatry 2015; 7(1: 16-29

  10. Ethics in Psychiatric Research: Issues and Recommendations

    OpenAIRE

    Jain, Shobhit; Kuppili, Pooja Patnaik; Pattanayak, Raman Deep; Sagar, Rajesh

    2017-01-01

    Psychiatric research has increased remarkably over recent decades to help in understanding the current trends and better therapeutic options for illness. On the other hand, there is also a trend toward higher rates of retraction of published papers in the recent years. Ethics is required to maintain and increase the overall quality and morality of research. Psychiatric research faces several unique ethical challenges. Ethical guidelines are very important tool of research which safeguards par...

  11. Insomnia comorbid to severe psychiatric illness

    OpenAIRE

    Soehner, Adriane M.; Kaplan, Katherine A; Harvey, Allison G.

    2013-01-01

    In psychiatric illness, there is a growing body of evidence indicating that sleep disturbances exert a detrimental influence on the course of these disorders and contribute to impaired function. Even when psychiatric disorders are successfully treated or stabilized, insomnia and other sleep disturbances often fail to remit. The present review focuses on sleep in two severe mental illnesses, namely bipolar disorder and schizophrenia. This article discusses the role of sleep disturbances and al...

  12. Psychiatric aspects of Parkinson′s disease

    Directory of Open Access Journals (Sweden)

    Sandeep Grover

    2015-01-01

    Full Text Available Parkinson′s disease (PD is essentially characterized by the motor symptoms in the form of resting tremor, rigidity and bradykinesia. However, over the years it has been recognized that motor symptoms are just the "tip of the iceberg" of clinical manifestations of PD. Besides motor symptoms, PD characterized by many non-motor symptoms, which include cognitive decline, psychiatric disturbances (depression, psychosis and impulse control, sleep difficulties, autonomic failures (gastrointestinal, cardiovascular, urinary, thermoregulation and pain syndrome. This review evaluates the various aspects of psychiatric disorders including cognitive decline and sleep disturbances in patients with PD. The prevalence rate of various psychiatric disorders is high in patients with PD. In terms of risk factors, various demographic, clinical and treatment-related variables have been shown to be associated with higher risk of development of psychiatric morbidity. Evidence also suggests that the presence of psychiatric morbidity is associated with poorer outcome. Randomized controlled trials, evaluating the various pharmacological and non-pharmacological treatments for management of psychiatric morbidity in patients with PD are meager. Available evidence suggests that tricyclic antidepressants like desipramine and nortriptyline are efficacious for management of depression. Among the antipsychotics, clozapine is considered to be the best choice for management of psychosis in patients with PD. Among the various cognitive enhancers, evidence suggest efficacy of rivastigmine in management of dementia in patients with PD. To conclude, this review suggests that psychiatric morbidity is highly prevalent in patients with PD. Hence, a multidisciplinary approach must be followed to improve the overall outcome of PD. Further studies are required to evaluate the efficacy of various other measures for management of psychiatric morbidity in patients with PD.

  13. Psychiatric disorders and urbanization in Germany

    OpenAIRE

    Koelen Jurrijn; Peen Jaap; Dekker Jack; Smit Filip; Schoevers Robert

    2008-01-01

    Abstract Background Epidemiological studies over the last decade have supplied growing evidence of an association between urbanization and the prevalence of psychiatric disorders. Our aim was to examine the link between levels of urbanization and 12-month prevalence rates of psychiatric disorders in a nationwide German population study, controlling for other known risk factors such as gender, social class, marital status and the interaction variables of these factors with urbanization. Method...

  14. Low blood pressure in psychiatric inpatients.

    OpenAIRE

    Masterton, G; Main, C J; Lever, A F; Lever, R S

    1981-01-01

    Blood pressure recordings in 116 female psychiatric inpatients were analysed. Sixty-nine women had schizophrenia, the remainder a variety of psychiatric conditions. All had been in hospital continuously for more than one year, the average for 19 years continuously. An average of seven recordings of blood pressure per patient had been made during that time. The latest of these compared well with measurements made independently using a sphygmomanometer free from observer bias. On admission to h...

  15. Comparison of 6q25 breast cancer hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC.

    Directory of Open Access Journals (Sweden)

    Rebecca Hein

    Full Text Available The 6q25.1 locus was first identified via a genome-wide association study (GWAS in Chinese women and marked by single nucleotide polymorphism (SNP rs2046210, approximately 180 Kb upstream of ESR1. There have been conflicting reports about the association of this locus with breast cancer in Europeans, and a GWAS in Europeans identified a different SNP, tagged here by rs12662670. We examined the associations of both SNPs in up to 61,689 cases and 58,822 controls from forty-four studies collaborating in the Breast Cancer Association Consortium, of which four studies were of Asian and 39 of European descent. Logistic regression was used to estimate odds ratios (OR and 95% confidence intervals (CI. Case-only analyses were used to compare SNP effects in Estrogen Receptor positive (ER+ versus negative (ER- tumours. Models including both SNPs were fitted to investigate whether the SNP effects were independent. Both SNPs are significantly associated with breast cancer risk in both ethnic groups. Per-allele ORs are higher in Asian than in European studies [rs2046210: OR (A/G = 1.36 (95% CI 1.26-1.48, p = 7.6 × 10(-14 in Asians and 1.09 (95% CI 1.07-1.11, p = 6.8 × 10(-18 in Europeans. rs12662670: OR (G/T = 1.29 (95% CI 1.19-1.41, p = 1.2 × 10(-9 in Asians and 1.12 (95% CI 1.08-1.17, p = 3.8 × 10(-9 in Europeans]. SNP rs2046210 is associated with a significantly greater risk of ER- than ER+ tumours in Europeans [OR (ER- = 1.20 (95% CI 1.15-1.25, p = 1.8 × 10(-17 versus OR (ER+ = 1.07 (95% CI 1.04-1.1, p = 1.3 × 10(-7, p(heterogeneity = 5.1 × 10(-6]. In these Asian studies, by contrast, there is no clear evidence of a differential association by tumour receptor status. Each SNP is associated with risk after adjustment for the other SNP. These results suggest the presence of two variants at 6q25.1 each independently associated with breast cancer risk in Asians and in Europeans. Of these two, the one tagged by rs2046210 is associated with a greater

  16. Military Suicide Research Consortium: Extension to New Opportunities and Challenges

    Science.gov (United States)

    2017-04-01

    of inflated self-esteem in an inpatient youth psychiatric sample. Journal of Consulting & Clinical Psychology, 69, 712-716. 17. Pettit, J.W...Sprott, & P. Uhlenberg (Eds.), Encyclopedia of Aging. New York: Macmillan Reference USA . 71 MSRC Annual Report YR1 36. Joiner, T., & Schmidt, N.B

  17. Cultivation of algae consortium in a dairy farm wastewater for biodiesel production

    Directory of Open Access Journals (Sweden)

    S. Hena

    2015-06-01

    Full Text Available Dairy farm wastewaters are potential resources for production of microalgae biofuels. A study was conducted to evaluate the capability of production of biodiesel from consortium of native microalgae culture in dairy farm treated wastewater. Native algal strains were isolated from dairy farm wastewaters collection tank (untreated wastewater as well as from holding tank (treated wastewater. The consortium members were selected on the basis of fluorescence response after treating with Nile red reagent. Preliminary studies of two commercial and consortium of ten native strains of algae showed good growth in wastewaters. A consortium of native strains was found capable to remove more than 98% nutrients from treated wastewater. The biomass production and lipid content of consortium cultivated in treated wastewater were 153.54 t ha−1 year−1 and 16.89%, respectively. 72.70% of algal lipid obtained from consortium could be converted into biodiesel.

  18. Association between Prostinogen (KLK15 genetic variants and prostate cancer risk and aggressiveness in Australia and a meta-analysis of GWAS data.

    Directory of Open Access Journals (Sweden)

    Jyotsna Batra

    Full Text Available Kallikrein 15 (KLK15/Prostinogen is a plausible candidate for prostate cancer susceptibility. Elevated KLK15 expression has been reported in prostate cancer and it has been described as an unfavorable prognostic marker for the disease.We performed a comprehensive analysis of association of variants in the KLK15 gene with prostate cancer risk and aggressiveness by genotyping tagSNPs, as well as putative functional SNPs identified by extensive bioinformatics analysis. METHODS AND DATA SOURCES: Twelve out of 22 SNPs, selected on the basis of linkage disequilibrium pattern, were analyzed in an Australian sample of 1,011 histologically verified prostate cancer cases and 1,405 ethnically matched controls. Replication was sought from two existing genome wide association studies (GWAS: the Cancer Genetic Markers of Susceptibility (CGEMS project and a UK GWAS study.Two KLK15 SNPs, rs2659053 and rs3745522, showed evidence of association (p<0.05 but were not present on the GWAS platforms. KLK15 SNP rs2659056 was found to be associated with prostate cancer aggressiveness and showed evidence of association in a replication cohort of 5,051 patients from the UK, Australia, and the CGEMS dataset of US samples. A highly significant association with Gleason score was observed when the data was combined from these three studies with an Odds Ratio (OR of 0.85 (95% CI = 0.77-0.93; p = 2.7×10(-4. The rs2659056 SNP is predicted to alter binding of the RORalpha transcription factor, which has a role in the control of cell growth and differentiation and has been suggested to control the metastatic behavior of prostate cancer cells.Our findings suggest a role for KLK15 genetic variation in the etiology of prostate cancer among men of European ancestry, although further studies in very large sample sets are necessary to confirm effect sizes.

  19. Properties and modeling of GWAS when complex disease risk is due to non-complementing, deleterious mutations in genes of large effect.

    Science.gov (United States)

    Thornton, Kevin R; Foran, Andrew J; Long, Anthony D

    2013-01-01

    Current genome-wide association studies (GWAS) have high power to detect intermediate frequency SNPs making modest contributions to complex disease, but they are underpowered to detect rare alleles of large effect (RALE). This has led to speculation that the bulk of variation for most complex diseases is due to RALE. One concern with existing models of RALE is that they do not make explicit assumptions about the evolution of a phenotype and its molecular basis. Rather, much of the existing literature relies on arbitrary mapping of phenotypes onto genotypes obtained either from standard population-genetic simulation tools or from non-genetic models. We introduce a novel simulation of a 100-kilobase gene region, based on the standard definition of a gene, in which mutations are unconditionally deleterious, are continuously arising, have partially recessive and non-complementing effects on phenotype (analogous to what is widely observed for most Mendelian disorders), and are interspersed with neutral markers that can be genotyped. Genes evolving according to this model exhibit a characteristic GWAS signature consisting of an excess of marginally significant markers. Existing tests for an excess burden of rare alleles in cases have low power while a simple new statistic has high power to identify disease genes evolving under our model. The structure of linkage disequilibrium between causative mutations and significantly associated markers under our model differs fundamentally from that seen when rare causative markers are assumed to be neutral. Rather than tagging single haplotypes bearing a large number of rare causative alleles, we find that significant SNPs in a GWAS tend to tag single causative mutations of small effect relative to other mutations in the same gene. Our results emphasize the importance of evaluating the power to detect associations under models that are genetically and evolutionarily motivated.

  20. Properties and modeling of GWAS when complex disease risk is due to non-complementing, deleterious mutations in genes of large effect.

    Directory of Open Access Journals (Sweden)

    Kevin R Thornton

    Full Text Available Current genome-wide association studies (GWAS have high power to detect intermediate frequency SNPs making modest contributions to complex disease, but they are underpowered to detect rare alleles of large effect (RALE. This has led to speculation that the bulk of variation for most complex diseases is due to RALE. One concern with existing models of RALE is that they do not make explicit assumptions about the evolution of a phenotype and its molecular basis. Rather, much of the existing literature relies on arbitrary mapping of phenotypes onto genotypes obtained either from standard population-genetic simulation tools or from non-genetic models. We introduce a novel simulation of a 100-kilobase gene region, based on the standard definition of a gene, in which mutations are unconditionally deleterious, are continuously arising, have partially recessive and non-complementing effects on phenotype (analogous to what is widely observed for most Mendelian disorders, and are interspersed with neutral markers that can be genotyped. Genes evolving according to this model exhibit a characteristic GWAS signature consisting of an excess of marginally significant markers. Existing tests for an excess burden of rare alleles in cases have low power while a simple new statistic has high power to identify disease genes evolving under our model. The structure of linkage disequilibrium between causative mutations and significantly associated markers under our model differs fundamentally from that seen when rare causative markers are assumed to be neutral. Rather than tagging single haplotypes bearing a large number of rare causative alleles, we find that significant SNPs in a GWAS tend to tag single causative mutations of small effect relative to other mutations in the same gene. Our results emphasize the importance of evaluating the power to detect associations under models that are genetically and evolutionarily motivated.

  1. Concurrent Medical and Psychiatric Disorders among Schizophrenic and Neurotic Outpatients.

    Science.gov (United States)

    Lima, Bruno R.; Pai, Shaila

    Although the occurrence of medical illnesses in psychiatric patients is quite high, medical illnesses manifested by psychiatric symptoms are often overlooked. The higher mortality rates among psychiatric patients when compared to the general population may be a reflection of neglect or inadequate treatment of the psychiatric patients' medical…

  2. Training in Psychiatric Genomics during Residency: A New Challenge

    Science.gov (United States)

    Winner, Joel G.; Goebert, Deborah; Matsu, Courtenay; Mrazek, David A.

    2010-01-01

    Objective: The authors ascertained the amount of training in psychiatric genomics that is provided in North American psychiatric residency programs. Methods: A sample of 217 chief residents in psychiatric residency programs in the United States and Canada were identified by e-mail and surveyed to assess their training in psychiatric genetics and…

  3. [Prescription drug abuse in elderly psychiatric patients].

    Science.gov (United States)

    Wetterling, Tilman; Schneider, Barbara

    2012-08-01

    Due to demographic changes there will be a fraction of elderly patients with substance use disorders. However, only a few data have been published about elderly abusers of prescription drugs. Since substance abuse is frequently comorbid with psychiatric disorders, treatment in a psychiatric hospital is often needed. In this explorative study elderly people with prescription drug abuse who required psychiatric inpatient treatment should be characterized. This study was part of the gerontopsychiatry study Berlin (Gepsy-B), an investigation of the data of all older inpatients (≥ 65 years) admitted to a psychiatric hospital within a period of 3 years. Among 1266 documented admissions in 110 cases (8.7 %) (mean age: 75.7 ± 7.1 years) prescription drug abuse, mostly of benzodiazepines was diagnosed. Females showed benzodiazepine abuse more often than males. In only a small proportion of the cases the reason for admission was withdrawal of prescribed drugs. 85.5 % suffered from psychiatric comorbidity, mostly depression. As risk factors for abuse depressive symptoms (OR: 3.32) as well as concurrent nicotine (OR: 2.69) or alcohol abuse (OR: 2.14) were calculated. Psychiatric inpatient treatment was primarily not necessary because of prescription drug abuse but because of other psychopathological symptoms. © Georg Thieme Verlag KG Stuttgart · New York.

  4. Kansas Consortium Plug-in Hybrid Medium Duty

    Energy Technology Data Exchange (ETDEWEB)

    None, None

    2012-03-31

    On September 30, 2008, the US Department of Energy (DoE), issued a cooperative agreement award, DE-FC26-08NT01914, to the Metropolitan Energy Center (MEC), for a project known as “Kansas Consortium Plug-in Hybrid Medium Duty Certification” project. The cooperative agreement was awarded pursuant to H15915 in reference to H. R. 2764 Congressionally Directed Projects. The original agreement provided funding for The Consortium to implement the established project objectives as follows: (1) to understand the current state of the development of a test protocol for PHEV configurations; (2) to work with industry stakeholders to recommend a medium duty vehicle test protocol; (3) to utilize the Phase 1 Eaton PHEV F550 Chassis or other appropriate PHEV configurations to conduct emissions testing; (4) and to make an industry PHEV certification test protocol recommendation for medium duty trucks. Subsequent amendments to the initial agreement were made, the most significant being a revised Scope of Project Objectives (SOPO) that did not address actual field data since it was not available as originally expected. This project was mated by DOE with a parallel project award given to the South Coast Air Quality Management District (SCAQMD) in California. The SCAQMD project involved designing, building and testing of five medium duty plug-in hybrid electric trucks. SCAQMD had contracted with the Electric Power Research Institute (EPRI) to manage the project. EPRI provided the required match to the federal grant funds to both the SCAQMD project and the Kansas Consortium project. The rational for linking the two projects was that the data derived from the SCAQMD project could be used to validate the protocols developed by the Kansas Consortium team. At the same time, the consortium team would be a useful resource to SCAQMD in designating their test procedures for emissions and operating parameters and determining vehicle mileage. The years between award of the cooperative

  5. Policies on assisted suicide in Dutch psychiatric facilities.

    Science.gov (United States)

    Haverkate, I; van der Wal, G

    1998-01-01

    Recent jurisprudence in the Netherlands challenges psychiatric hospitals to formulate policies on how to approach requests for assisted suicide. This study examined whether such policies exist in Dutch psychiatric hospitals and general hospitals with psychiatric wards. The directors of patient care in 38 of the country's 52 psychiatric hospitals and 42 of the 59 general hospitals with psychiatric wards responded to a mail survey. Five psychiatric hospitals and six general hospitals had written policies. Almost half of the psychiatric hospitals had a verbal policy only. The majority of the hospitals with policies had a tolerant or permissive policy toward assisted suicide.

  6. Biodegradation of polycyclic aromatic hydrocarbons by a halophilic microbial consortium.

    Science.gov (United States)

    Dastgheib, Seyed Mohammad Mehdi; Amoozegar, Mohammad Ali; Khajeh, Khosro; Shavandi, Mahmoud; Ventosa, Antonio

    2012-08-01

    In this study we investigated the phenanthrene degradation by a halophilic consortium obtained from a saline soil sample. This consortium, named Qphe, could efficiently utilize phenanthrene in a wide range of NaCl concentrations, from 1% to 17% (w/v). Since none of the purified isolates could degrade phenanthrene, serial dilutions were performed and resulted in a simple polycyclic aromatic hydrocarbon (PAH)-degrading culture named Qphe-SubIV which was shown to contain one culturable Halomonas strain and one unculturable strain belonging to the genus Marinobacter. Qphe-SubIV was shown to grow on phenanthrene at salinities as high as 15% NaCl (w/v) and similarly to Qphe, at the optimal NaCl concentration of 5% (w/v), could degrade more than 90% of the amended phenanthrene in 6 days. The comparison of the substrate range of the two consortiums showed that the simplified culture had lost the ability to degrade chrysene but still could grow on other polyaromatic substrates utilized by Qphe. Metabolite analysis by HPLC and GC-MS showed that 2-hydroxy 1-naphthoic acid and 2-naphthol were among the major metabolites accumulated in the Qphe-SubIV culture media, indicating that an initial dioxygenation step might proceed at C1 and C2 positions. By investigating the growth ability on various substrates along with the detection of catechol dioxygenase gene, it was postulated that the uncultured Marinobacter strain had the central role in phenanthrene degradation and the Halomonas strain played an auxiliary role in the culture by utilizing phenanthrene metabolites whose accumulation in the media could be toxic.

  7. Psychiatric/ psychological forensic report writing.

    Science.gov (United States)

    Young, Gerald

    Approaches to forensic report writing in psychiatry, psychology, and related mental health disciplines have moved from an organization, content, and stylistic framework to considering ethical and other codes, evidentiary standards, and practice considerations. The first part of the article surveys different approaches to forensic report writing, including that of forensic mental health assessment and psychiatric ethics. The second part deals especially with psychological ethical approaches. The American Psychological Association's Ethical Principles and Code of Conduct (2002) provide one set of principles on which to base forensic report writing. The U.S. Federal Rules of Evidence (2014) and related state rules provide another basis. The American Psychological Association's Specialty Guidelines for Forensic Psychology (2013) provide a third source. Some work has expanded the principles in ethics codes; and, in the third part of this article, these additions are applied to forensic report writing. Other work that could help with the question of forensic report writing concerns the 4 Ds in psychological injury assessments (e.g., conduct oneself with Dignity, avoid the adversary Divide, get the needed reliable Data, Determine interpretations and conclusions judiciously). One overarching ethical principle that is especially applicable in forensic report writing is to be comprehensive, scientific, and impartial. As applied to forensic report writing, the overall principle that applies is that the work process and product should reflect integrity in its ethics, law, and science. Four principles that derive from this meta-principle concern: Competency and Communication; Procedure and Protection; Dignity and Distance; and Data Collection and Determination. The standards or rules associated with each of these principles are reviewed. Crown Copyright © 2016. Published by Elsevier Ltd. All rights reserved.

  8. Prototype diagnosis of psychiatric syndromes

    Science.gov (United States)

    WESTEN, DREW

    2012-01-01

    resolve the thorny issue of the relation between psychiatric diagnosis and functional impairment. PMID:22294998

  9. Torture: psychiatric sequelae and phenomenology.

    Science.gov (United States)

    Doerr-Zegers, O; Hartmann, L; Lira, E; Weinstein, E

    1992-05-01

    Torture has been defined by the United Nations (declaration of December 9, 1975) as "every act by which a public functionary (or another person at his instigation) intentionally inflicts on another person serious pain or suffering, ...physical or mental, with the object of obtaining information or of punishing him...or of intimidating that person or others." In Chile, from the 1973 military coup d'Etat up to the 1988 plebiscite, torture was practiced in a systematic way, as a method of interrogation and as a means of intimidation of detainees and, indirectly, of the population at large. In the beginning, torture was applied in military station units and in police stations, in the facilities of sport fields and prisoners' camps; but above all, in clandestine detention centers and prisons belonging to the secret police (Amnesty International 1977, 1983; CODEPU 1984, 1985, 1986; Lira and Weinstein 1987; Muñoz 1986; Rodríguez de Ruiz-Tagle 1978). In spite of the bloodshed of the 1973 coup d'Etat, the phenomenon of torture came as a total surprise for the detainees, who had very often voluntarily surrendered themselves to the new authorities, and who, given the civil traditions of the country, expected treatment in accordance with a society subject to the law. The military government regularly denied having undertaken the practice of torture. According to Lira and Weinstein (20), this denial of such an extreme experience or horror made it even more difficult to overcome the trauma and fostered the development of chronic psychiatric pathology.

  10. Neuroreceptor imaging in psychiatric disorders

    Energy Technology Data Exchange (ETDEWEB)

    Frankle, W.G. [Columbia Univ., New York, NY, (United States). Coll. of Physicians and Surgeons; Laruelle, M. [Columbia Univ., New York, NY (United States). New York State Psychiatric Inst.

    2002-11-01

    Molecular imaging, the study of receptors, transporters and enzymes, as well as other cellular processes, has grown in recent years to be one of the most active neuroimaging areas. The application of single photon emission tomography (SPECT) and positron emission tomography (PET) techniques to the study of psychiatric illness has lead to increased understanding of disease processes as well as validated, in vivo, theories of illness etiology. Within the field of psychiatry these techniques have been applied most widely to the study of schizophrenia. Studies within schizophrenia are largely limited to either the dopamine or serotonin system. This is due in large part to the availability of suitable radiotracers as well as the current theories on the etiology of the illness. Two basic study designs are used when studying schizophrenia using molecular imaging and make up the majority of studies reviewed in this manuscript. The first type, termed ''clinical studies'', compares the findings from PET and SPECT studies in those with schizophrenia to normal controls in an attempt to understand the pathophysiology of the illness. The second study design, termed ''occupancy studies'', uses these techniques to enhance the understanding of the mechanism of action of the medications used in treating this illness. This review will focus on the findings of molecular imaging studies in schizophrenia, focusing, for the most part, on the serotonin and dopamine systems. Emphasis will be placed on how these findings and techniques are currently being used to inform the development of novel treatments for schizophrenia. (author)

  11. Real-world comparison of CPU and GPU implementations of SNPrank: a network analysis tool for GWAS.

    Science.gov (United States)

    Davis, Nicholas A; Pandey, Ahwan; McKinney, B A

    2011-01-15

    Bioinformatics researchers have a variety of programming languages and architectures at their disposal, and recent advances in graphics processing unit (GPU) computing have added a promising new option. However, many performance comparisons inflate the actual advantages of GPU technology. In this study, we carry out a realistic performance evaluation of SNPrank, a network centrality algorithm that ranks single nucleotide polymorhisms (SNPs) based on their importance in the context of a phenotype-specific interaction network. Our goal is to identify the best computational engine for the SNPrank web application and to provide a variety of well-tested implementations of SNPrank for Bioinformaticists to integrate into their research. Using SNP data from the Wellcome Trust Case Control Consortium genome-wide association study of Bipolar Disorder, we compare multiple SNPrank implementations, including Python, Matlab and Java as well as CPU versus GPU implementations. When compared with naïve, single-threaded CPU implementations, the GPU yields a large improvement in the execution time. However, with comparable effort, multi-threaded CPU implementations negate the apparent advantage of GPU implementations. The SNPrank code is open source and available at http://insilico.utulsa.edu/snprank.

  12. Effect of temperature on perchloroethylene dechlorination by a methanogenic consortium

    Energy Technology Data Exchange (ETDEWEB)

    Gao, J.; Skeen, R.S.; Hooker, B.S.

    1995-04-01

    The effect of temperature on the kinetics of growth, substrate metabolism, and perchloroethylene (PCE) dechlorination by a methanogenic consortium is reported. In all cases, a simple kinetic model accurately reflected experimental data. Values for the substrate and methane yield coefficients, and the maximum specific growth rate are fairly consistent at each temperature. Also, the substrate and methane yield coefficients show little temperature sensitivity. In contrast, both the maximum specific growth rate and the PCE dechlorination yield coefficient (Y{sub PCE}) are temperature dependent.

  13. Research Consortium for the Development of Agriculture in Haiti ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    ... le développement de l'agriculture en Haïti. Même avant le tremblement de terre qui a dévasté le pays en janvier 2010, les enfants d'Haïti présentaient certains des pires taux de dénutrition en Amérique latine et dans les Caraïbes. Voir davantageConsortium de recherche pour le développement de l'agriculture en Haïti ...

  14. Perpetuating stigma? Differences between advertisements for psychiatric and non-psychiatric medication in two professional journals.

    Science.gov (United States)

    Foster, Juliet L H

    2010-02-01

    Continuing debates regarding advertising and the pharmaceutical industry, and others detailing the continued stigmatization of mental health problems. To establish whether there are any differences in advertisements for psychiatric and non-psychiatric medication aimed at health professionals. Quantitative (t-tests, Chi-squared) and qualitative analysis of all unique advertisements for medication that appeared in two professional journals (the British Medical Journal and the British Journal of Psychiatry) between October 2005 and September 2006 was undertaken. Close attention was paid to both images and text used in the advertisements. Significant differences were found between advertisements for psychiatric and non-psychiatric medication in both quantitative and qualitative analysis: advertisements for psychiatric medication contain less text and are less likely to include specific information about the actual drug than non-psychiatric medication advertisements; images used in advertisements for psychiatric medication are more negative than those used for non-psychiatric medication, and are less likely to portray people in everyday situations. A distinction between mental health problems and other forms of ill health is clearly being maintained in medication advertisements; this has potentially stigmatizing consequences, both for professional and public perceptions. There are also troubling implications in light of the debates surrounding Direct to Consumer Advertising.

  15. Psychiatric disorders among the elderly on non-psychiatric wards in an African setting.

    Science.gov (United States)

    Nakasujja, Noeline; Musisi, Seggane; Walugembe, James; Wallace, Daphne

    2007-08-01

    The elderly are vulnerable to illness and particularly to psychiatric illness. Many mentally ill elderly patients end up on non-psychiatric wards owing to somatization of their illnesses. Even for these patients, a psychiatric diagnosis may not be made. The literature on the elderly in Uganda is very scanty. This study aims to establish the prevalence and factors associated with psychiatric disorders among elderly patients admitted to non-psychiatric wards. We carried out a descriptive cross-sectional study of 127 consenting elderly patients. They were administered a standardized questionnaire comprising the Self Reporting Questionnaire 25, the Mini-mental State Examination and the Structured Clinical Interview for the Diagnostic and Statistical Manual IV. Study variables included socio-demographic characteristics, physical illnesses, psychiatric disorders and the treatment given. The rate of psychiatric morbidity was 48%. The sex ratio was 1:1; however, women had a higher rate of psychiatric illness than men, 54.6% and 41.3% respectively. Being widowed or separated and having cancer were associated with SRQ>5, p=0.02 and p=0.04 respectively. Depressive disorders were the most common at 25.2% and were more common in women. Increasing age was associated with dementia (pUganda. Particular attention should be given to the psychological health of elderly people admitted to general hospitals.

  16. Psychiatric Service Use and Psychiatric Disorders in Adults with Intellectual Disability

    Science.gov (United States)

    Bhaumik, S.; Tyrer, F. C.; McGrother, C.; Ganghadaran, S. K.

    2008-01-01

    Background: UK policies aim to facilitate access to general psychiatric services for adults with intellectual disability (ID). If this is to be achieved, it is important to have a clear idea of the characteristics and proportion of people with ID who currently access specialist psychiatric services and the nature and extent of psychiatric…

  17. Impact of social-psychiatric services and psychiatric clinics on involuntary admissions.

    Science.gov (United States)

    Emons, Barbara; Haussleiter, Ida Sybille; Kalthoff, Jörg; Schramm, Anja; Hoffmann, Knut; Jendreyschak, Jasmin; Schaub, Markus; Armgart, Carina; Juckel, Georg; Illes, Franciska

    2014-11-01

    Germany provides a wide range of highly developed mental health care to its citizens. The aim of this study was to identify factors influencing the voluntariness of admissions to psychiatric hospitals. Especially the impact of demographic factors of the region, characteristics of the psychiatric hospitals and characteristics of the psychosocial services was analyzed. A retrospective analysis of hospital admission registers from 13 German adult psychiatric hospitals in 2009 was conducted. Public data on the regional psychiatric accommodation and demographic situation were added. Hospitals were dichotomously divided according to their index of involuntary admissions. Group comparisons were performed between the clinics with low and high involuntary admission indices. Analysis was conducted with clinical, psychiatric provision and demographic data related to inpatients in the Landschaftsverbands Westfalen-Lippe (LWL)-PsychiatryNetwork. Especially the range of services provided by the social-psychiatric services in the region such as number of supervised patients and home visits had an influence on the proportion of involuntary admissions to a psychiatric hospital. Some demographic characteristics of the region such as discretionary income showed further influence. Contrary to our expectations, the characteristics of the individual hospital seem to have no influence on the admission rate. Social-psychiatric services show a preventive impact on involuntary acute psychiatry interventions. Sociodemographic factors and patient variables play a role with regard to the number of involuntary hospitalizations, whereas characteristics of hospitals seemed to play no role. © The Author(s) 2013.

  18. Genetic Counselling for Psychiatric Disorders: Accounts of Psychiatric Health Professionals in the United Kingdom.

    Science.gov (United States)

    Jenkins, Sian; Arribas-Ayllon, Michael

    2016-12-01

    Genetic counselling is not routinely offered for psychiatric disorders in the United Kingdom through NHS regional clinical genetics departments. However, recent genomic advances, confirming a genetic contribution to mental illness, are anticipated to increase demand for psychiatric genetic counselling. This is the first study of its kind to employ qualitative methods of research to explore accounts of psychiatric health professionals regarding the prospects for genetic counselling services within clinical psychiatry in the UK. Data were collected from 32 questionnaire participants, and 9 subsequent interviewees. Data analysis revealed that although participants had not encountered patients explicitly demanding psychiatric genetic counselling, psychiatric health professionals believe that such a service would be useful and desirable. Genomic advances may have significant implications for genetic counselling in clinical psychiatry even if these discoveries do not lead to genetic testing. Psychiatric health professionals describe clinical genetics as a skilled profession capable of combining complex risk communication with much needed psychosocial support. However, participants noted barriers to the implementation of psychiatric genetic counselling services including, but not limited to, the complexities of uncertainty in psychiatric diagnoses, patient engagement and ethical concerns regarding limited capacity.

  19. Meeting report: the fourth Genomic Standards Consortium (GSC) workshop.

    Science.gov (United States)

    Field, Dawn; Glöckner, Frank Oliver; Garrity, George M; Gray, Tanya; Sterk, Peter; Cochrane, Guy; Vaughan, Robert; Kolker, Eugene; Kottmann, Renzo; Kyrpides, Nikos; Angiuoli, Sam; Dawyndt, Peter; Guralnick, Robert; Goldstein, Philip; Hall, Neil; Hirschman, Lynette; Kravitz, Saul; Lister, Allyson L; Markowitz, Victor; Thomson, Nick; Whetzel, Trish

    2008-06-01

    This meeting report summarizes the proceedings of the "eGenomics: Cataloguing our Complete Genome Collection IV" workshop held June 6-8, 2007, at the National Institute for Environmental eScience (NIEeS), Cambridge, United Kingdom. This fourth workshop of the Genomic Standards Consortium (GSC) was a mix of short presentations, strategy discussions, and technical sessions. Speakers provided progress reports on the development of the "Minimum Information about a Genome Sequence" (MIGS) specification and the closely integrated "Minimum Information about a Metagenome Sequence" (MIMS) specification. The key outcome of the workshop was consensus on the next version of the MIGS/MIMS specification (v1.2). This drove further definition and restructuring of the MIGS/MIMS XML schema (syntax). With respect to semantics, a term vetting group was established to ensure that terms are properly defined and submitted to the appropriate ontology projects. Perhaps the single most important outcome of the workshop was a proposal to move beyond the concept of "minimum" to create a far richer XML schema that would define a "Genomic Contextual Data Markup Language" (GCDML) suitable for wider semantic integration across databases. GCDML will contain not only curated information (e.g., compliant with MIGS/MIMS), but also be extended to include a variety of data processing and calculations. Further information about the Genomic Standards Consortium and its range of activities can be found at http://gensc.org.

  20. Inner-City Energy and Environmental Education Consortium

    Energy Technology Data Exchange (ETDEWEB)

    1993-06-11

    The numbers of individuals with adequate education and training to participate effectively in the highly technical aspects of environmental site cleanup are insufficient to meet the increasing demands of industry and government. Young people are particularly sensitive to these issues and want to become better equipped to solve the problems which will confront them during their lives. Educational institutions, on the other hand, have been slow in offering courses and curricula which will allow students to fulfill these interests. This has been in part due to the lack of federal funding to support new academic programs. This Consortium has been organized to initiate focused educational effort to reach inner-city youth with interesting and useful energy and environmental programs which can lead to well-paying and satisfying careers. Successful Consortium programs can be replicated in other parts of the nation. This report describes a pilot program in Washington, DC, Philadelphia, and Baltimore with the goal to attract and retain inner-city youth to pursue careers in energy-related scientific and technical areas, environmental restoration, and waste management.

  1. A programmable Escherichia coli consortium via tunable symbiosis.

    Directory of Open Access Journals (Sweden)

    Alissa Kerner

    Full Text Available Synthetic microbial consortia that can mimic natural systems have the potential to become a powerful biotechnology for various applications. One highly desirable feature of these consortia is that they can be precisely regulated. In this work we designed a programmable, symbiotic circuit that enables continuous tuning of the growth rate and composition of a synthetic consortium. We implemented our general design through the cross-feeding of tryptophan and tyrosine by two E. coli auxotrophs. By regulating the expression of genes related to the export or production of these amino acids, we were able to tune the metabolite exchanges and achieve a wide range of growth rates and strain ratios. In addition, by inverting the relationship of growth/ratio vs. inducer concentrations, we were able to "program" the co-culture for pre-specified attributes with the proper addition of inducing chemicals. This programmable proof-of-concept circuit or its variants can be applied to more complex systems where precise tuning of the consortium would facilitate the optimization of specific objectives, such as increasing the overall efficiency of microbial production of biofuels or pharmaceuticals.

  2. The Latin American Consortium of Studies in Obesity (LASO)

    Science.gov (United States)

    Bautista, L. E.; Casas, J. P.; Herrera, V. M.; Miranda, J. J.; Perel, P.; Pichardo, R.; González, A.; Sanchez, J. R.; Ferreccio, C.; Aguilera, X.; Silva, E.; Oróstegui, M.; Gómez, L. F.; Chirinos, J. A.; Medina-Lezama, J.; Pérez, C. M.; Suárez, E.; Ortiz, A. P.; Rosero, L.; Schapochnik, N.; Ortiz, Z.; Ferrante, D.

    2009-01-01

    Summary Current, high-quality data are needed to evaluate the health impact of the epidemic of obesity in Latin America. The Latin American Consortium of Studies of Obesity (LASO) has been established, with the objectives of (i) Accurately estimating the prevalence of obesity and its distribution by sociodemographic characteristics; (ii) Identifying ethnic, socioeconomic and behavioural determinants of obesity; (iii) Estimating the association between various anthropometric indicators or obesity and major cardiovascular risk factors and (iv) Quantifying the validity of standard definitions of the various indexes of obesity in Latin American population. To achieve these objectives, LASO makes use of individual data from existing studies. To date, the LASO consortium includes data from 11 studies from eight countries (Argentina, Chile, Colombia, Costa Rica, Dominican Republic, Peru, Puerto Rico and Venezuela), including a total of 32 462 subjects. This article describes the overall organization of LASO, the individual studies involved and the overall strategy for data analysis. LASO will foster the development of collaborative obesity research among Latin American investigators. More important, results from LASO will be instrumental to inform health policies aiming to curtail the epidemic of obesity in the region. PMID:19438980

  3. Birth Cohort Consortium of Asia: Current and Future Perspectives.

    Science.gov (United States)

    Kishi, Reiko; Zhang, Jun Jim; Ha, Eun-Hee; Chen, Pau-Chung; Tian, Ying; Xia, Yankai; Tsuchiya, Kenji J; Nakai, Kunihiko; Kim, Sungkyoon; Hong, Soo-Jong; Hong, Yun-Chul; Lee, Jeong-Rim; Jan Mohamed, Hamid Jan B; Parajuli, Rajendra Prasad; Adair, Linda S; Chong, Yap Seng; Guo, Yue Leon; Wang, Shu-Li; Nishijo, Muneko; Kido, Teruhiko; Tai, Pham The; Nandasena, Sumal

    2017-10-01

    The environmental health of children is one of the great global health concerns. Exposures in utero and throughout development can have major consequences on later health. However, environmental risks or disease burdens vary from region to region. Birth cohort studies are ideal for investigating different environmental risks. The principal investigators of three birth cohorts in Asia including the Taiwan Birth Panel Study (TBPS), the Mothers and Children's Environmental Health Study (MOCEH), and the Hokkaido Study on Environment and Children' Health (Hokkaido Study) coestablished the Birth Cohort Consortium of Asia (BiCCA) in 2011. Through a series of five PI meetings, the enrolment criteria, aim of the consortium, and a first-phase inventory were confirmed. To date, 23 birth cohorts have been established in 10 Asian countries, consisting of approximately 70,000 study subjects in the BiCCA. This article provides the study framework, environmental exposure and health outcome assessments, as well as maternal and infant characteristics of the participating cohorts. The BiCCA provides a unique and reliable source of birth cohort information in Asian countries. Further scientific cooperation is ongoing to identify specific regional environmental threats and improve the health of children in Asia.

  4. Multiple Syntrophic Interactions in a Terephthalate-Degrading Methanogenic Consortium

    Energy Technology Data Exchange (ETDEWEB)

    Lykidis, Athanasios; Chen, Chia-Lung; Tringe, Susannah G.; McHardy, Alice C.; Copeland, Alex 5; Kyrpides, Nikos C.; Hugenholtz, Philip; Liu, Wen-Tso

    2010-08-05

    Terephthalate (TA) is one of the top 50 chemicals produced worldwide. Its production results in a TA-containing wastewater that is treated by anaerobic processes through a poorly understood methanogenic syntrophy. Using metagenomics, we characterized the methanogenic consortium tinside a hyper-mesophilic (i.e., between mesophilic and thermophilic), TA-degrading bioreactor. We identified genes belonging to dominant Pelotomaculum species presumably involved in TA degradation through decarboxylation, dearomatization, and modified ?-oxidation to H{sub 2}/CO{sub 2} and acetate. These intermediates are converted to CH{sub 4}/CO{sub 2} by three novel hyper-mesophilic methanogens. Additional secondary syntrophic interactions were predicted in Thermotogae, Syntrophus and candidate phyla OP5 and WWE1 populations. The OP5 encodes genes capable of anaerobic autotrophic butyrate production and Thermotogae, Syntrophus and WWE1 have the genetic potential to oxidize butyrate to COsub 2}/H{sub 2} and acetate. These observations suggest that the TA-degrading consortium consists of additional syntrophic interactions beyond the standard H{sub 2}-producing syntroph ? methanogen partnership that may serve to improve community stability.

  5. Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants.

    Science.gov (United States)

    Nagy, Reka; Boutin, Thibaud S; Marten, Jonathan; Huffman, Jennifer E; Kerr, Shona M; Campbell, Archie; Evenden, Louise; Gibson, Jude; Amador, Carmen; Howard, David M; Navarro, Pau; Morris, Andrew; Deary, Ian J; Hocking, Lynne J; Padmanabhan, Sandosh; Smith, Blair H; Joshi, Peter; Wilson, James F; Hastie, Nicholas D; Wright, Alan F; McIntosh, Andrew M; Porteous, David J; Haley, Chris S; Vitart, Veronique; Hayward, Caroline

    2017-03-07

    The Generation Scotland: Scottish Family Health Study (GS:SFHS) is a family-based population cohort with DNA, biological samples, socio-demographic, psychological and clinical data from approximately 24,000 adult volunteers across Scotland. Although data collection was cross-sectional, GS:SFHS became a prospective cohort due to of the ability to link to routine Electronic Health Record (EHR) data. Over 20,000 participants were selected for genotyping using a large genome-wide array. GS:SFHS was analysed using genome-wide association studies (GWAS) to test the effects of a large spectrum of variants, imputed using the Haplotype Research Consortium (HRC) dataset, on medically relevant traits measured directly or obtained from EHRs. The HRC dataset is the largest available haplotype reference panel for imputation of variants in populations of European ancestry and allows investigation of variants with low minor allele frequencies within the entire GS:SFHS genotyped cohort. Genome-wide associations were run on 20,032 individuals using both genotyped and HRC imputed data. We present results for a range of well-studied quantitative traits obtained from clinic visits and for serum urate measures obtained from data linkage to EHRs collected by the Scottish National Health Service. Results replicated known associations and additionally reveal novel findings, mainly with rare variants, validating the use of the HRC imputation panel. For example, we identified two new associations with fasting glucose at variants near to Y_RNA and WDR4 and four new associations with heart rate at SNPs within CSMD1 and ASPH, upstream of HTR1F and between PROKR2 and GPCPD1. All were driven by rare variants (minor allele frequencies in the range of 0.08-1%). Proof of principle for use of EHRs was verification of the highly significant association of urate levels with the well-established urate transporter SLC2A9. GS:SFHS provides genetic data on over 20,000 participants alongside a range of

  6. The Integration of Epistasis Network and Functional Interactions in a GWAS Implicates RXR Pathway Genes in the Immune Response to Smallpox Vaccine.

    Directory of Open Access Journals (Sweden)

    Brett A McKinney

    Full Text Available Although many diseases and traits show large heritability, few genetic variants have been found to strongly separate phenotype groups by genotype. Complex regulatory networks of variants and expression of multiple genes lead to small individual-variant effects and difficulty replicating the effect of any single variant in an affected pathway. Interaction network modeling of GWAS identifies effects ignored by univariate models, but population differences may still cause specific genes to not replicate. Integrative network models may help detect indirect effects of variants in the underlying biological pathway. In this study, we used gene-level functional interaction information from the Integrative Multi-species Prediction (IMP tool to reveal important genes associated with a complex phenotype through evidence from epistasis networks and pathway enrichment. We test this method for augmenting variant-based network analyses with functional interactions by applying it to a smallpox vaccine immune response GWAS. The integrative analysis spotlights the role of genes related to retinoid X receptor alpha (RXRA, which has been implicated in a previous epistasis network analysis of smallpox vaccine.

  7. PR Interval Associated Genes, Atrial Remodeling and Rhythm Outcome of Catheter Ablation of Atrial Fibrillation—A Gene-Based Analysis of GWAS Data

    Directory of Open Access Journals (Sweden)

    Daniela Husser

    2017-12-01

    Full Text Available Background: PR interval prolongation has recently been shown to associate with advanced left atrial remodeling and atrial fibrillation (AF recurrence after catheter ablation. While different genome-wide association studies (GWAS have implicated 13 loci to associate with the PR interval as an AF endophenotype their subsequent associations with AF remodeling and response to catheter ablation are unknown. Here, we perform a gene-based analysis of GWAS data to test the hypothesis that PR interval candidate genes also associate with left atrial remodeling and arrhythmia recurrence following AF catheter ablation.Methods and Results: Samples from 660 patients with paroxysmal (n = 370 or persistent AF (n = 290 undergoing AF catheter ablation were genotyped for ~1,000,000 SNPs. Gene-based association was investigated using VEGAS (versatile gene-based association study. Among the 13 candidate genes, SLC8A1, MEIS1, ITGA9, SCN5A, and SOX5 associated with the PR interval. Of those, ITGA9 and SOX5 were significantly associated with left atrial low voltage areas and left atrial diameter and subsequently with AF recurrence after radiofrequency catheter ablation.Conclusion: This study suggests contributions of ITGA9 and SOX5 to AF remodeling expressed as PR interval prolongation, low voltage areas and left atrial dilatation and subsequently to response to catheter ablation. Future and larger studies are necessary to replicate and apply these findings with the aim of designing AF pathophysiology-based multi-locus risk scores.

  8. A splicing variant of TERT identified by GWAS interacts with menopausal estrogen therapy in risk of ovarian cancer.

    Science.gov (United States)

    Lee, Alice W; Bomkamp, Ashley; Bandera, Elisa V; Jensen, Allan; Ramus, Susan J; Goodman, Marc T; Rossing, Mary Anne; Modugno, Francesmary; Moysich, Kirsten B; Chang-Claude, Jenny; Rudolph, Anja; Gentry-Maharaj, Aleksandra; Terry, Kathryn L; Gayther, Simon A; Cramer, Daniel W; Doherty, Jennifer A; Schildkraut, Joellen M; Kjaer, Susanne K; Ness, Roberta B; Menon, Usha; Berchuck, Andrew; Mukherjee, Bhramar; Roman, Lynda; Pharoah, Paul D; Chenevix-Trench, Georgia; Olson, Sara; Hogdall, Estrid; Wu, Anna H; Pike, Malcolm C; Stram, Daniel O; Pearce, Celeste Leigh

    2016-12-15

    Menopausal estrogen-alone therapy (ET) is a well-established risk factor for serous and endometrioid ovarian cancer. Genetics also plays a role in ovarian cancer, which is partly attributable to 18 confirmed ovarian cancer susceptibility loci identified by genome-wide association studies. The interplay among these loci, ET use and ovarian cancer risk has yet to be evaluated. We analyzed data from 1,414 serous cases, 337 endometrioid cases and 4,051 controls across 10 case-control studies participating in the Ovarian Cancer Association Consortium (OCAC). Conditional logistic regression was used to determine the association between the confirmed susceptibility variants and risk of serous and endometrioid ovarian cancer among ET users and non-users separately and to test for statistical interaction. A splicing variant in TERT, rs10069690, showed a statistically significant interaction with ET use for risk of serous ovarian cancer (pint  = 0.013). ET users carrying the T allele had a 51% increased risk of disease (OR = 1.51, 95% CI 1.19-1.91), which was stronger for long-term ET users of 10+ years (OR = 1.85, 95% CI 1.28-2.66, pint  = 0.034). Non-users showed essentially no association (OR = 1.08, 95% CI 0.96-1.21). Two additional genomic regions harboring rs7207826 (C allele) and rs56318008 (T allele) also had significant interactions with ET use for the endometrioid histotype (pint  = 0.021 and pint  = 0.037, respectively). Hence, three confirmed susceptibility variants were identified whose associations with ovarian cancer risk are modified by ET exposure; follow-up is warranted given that these interactions are not adjusted for multiple comparisons. These findings, if validated, may elucidate the mechanism of action of these loci. © 2016 UICC.

  9. Psychiatric Disability in Law Enforcement Officers.

    Science.gov (United States)

    Price, Marilyn

    2017-03-01

    Law enforcement officers all across the world are exposed to violence, confrontation, and traumatic incidents. They regularly witness death and suffering and are at risk of personal injury. Psychiatric sequelae include an increased risk for trauma-related symptoms, depression, alcohol-use disorders, and stress-related medical conditions. Law enforcement officers have been applying for early disability retirement pensions at an increased rate for stress-related psychiatric and medical conditions. As a result, law enforcement agencies are prematurely losing valuable resources, officers with training and experience. Departments have become proactive in trying to address mental health issues to prevent psychiatric disability by implementing employee wellness plans and stress reduction interventions. Programs have been developed to mitigate the effects of stress on law enforcement personnel. Many law enforcement agencies have developed strategies to encourage early confidential referral for psychiatric treatment. They utilize peer support groups and employee assistance programs and develop alliances with mental health professionals. When these approaches fail, a fitness for duty process can be used to identify impairment in work functioning due to psychiatric factors with the prospect of later returning the officer to full duty. Copyright © 2017 John Wiley & Sons, Ltd. Copyright © 2017 John Wiley & Sons, Ltd.

  10. Psychiatric care in the German prison system.

    Science.gov (United States)

    Lehmann, Marc

    2012-01-01

    The purpose of this paper is to describe the nature of medical care within the German penal system. German prison services provide health care for all inmates, including psychiatric care. The reached level of equivalence of care and ethical problems and resource limitations are discussed and the way of legislation in this field since 2006 reform on federal law is described. The article summarizes basic data on German prison health care for mentally ill inmates. The legislation process and factors of influence are pointed out. A description of how psychiatric care is organized in German prisons follows. It focuses on the actual legal situation including European standards of prison health care and prevention of torture, psychiatric care in German prisons themselves, self harm and addiction. Associated problems such as blood born diseases and tuberculosis are included. The interactions between prison staff and health care personal and ethic aspects are discussed. The legislation process is still going on and there is still a chance to improve psychiatric care. Mental health problems are the major challenge for prison health care. Factors such as special problems of migrants, shortage of professionals and pure statistic data are considered. The paper provides a general overview on psychiatric services in prison and names weak points and strengths of the system.

  11. Psychiatric comorbidities in women with celiac disease.

    Science.gov (United States)

    Arigo, Danielle; Anskis, Alicia M; Smyth, Joshua M

    2012-03-01

    Although the physical consequences of Celiac Disease are well studied, less is known about co-occurring psychiatric symptoms. This study examines psychiatric risk and comorbidities of women with Celiac Disease, who may be at increased risk for psychiatric symptoms (e.g. depression, and disordered eating behaviours). Women (N = 177) with Celiac Disease responded to an extensive web-mediated survey assessing dietary compliance, illness symptoms, psychiatric functioning, and disordered eating. Despite high reported dietary compliance, patients reported marked illness symptoms and impaired quality of life. A substantial minority endorsed symptoms that met criteria for the diagnosis of psychiatric disorders: 37% (n = 65) met the threshold suggesting depression, and 22% (n = 39) for disordered eating. Participants whose symptoms exceeded these clinical thresholds reported greater perceived stress and reduced overall mental health, relative to women below the clinical cutoffs. Despite largely adhering to a gluten-free diet, a substantial subset of women with Celiac Disease report clinically relevant symptoms of depression and disordered eating; such symptoms are associated with increased psychosocial distress in other domains. These results suggest potential to improve the patient well-being through attention to psychosocial care, in addition to existing dietary recommendations for individuals with Celiac Disease.

  12. Impulse control disorders in adult psychiatric inpatients.

    Science.gov (United States)

    Grant, Jon E; Levine, Laura; Kim, Daniel; Potenza, Marc N

    2005-11-01

    The authors' goal was to examine the prevalence of impulse control disorders in psychiatric inpatients. They used the Minnesota Impulsive Disorders Interview, a semistructured clinical interview assessing pathological gambling, trichotillomania, kleptomania, pyromania, intermittent explosive disorder, compulsive buying, and compulsive sexual behavior, to screen 204 consecutively admitted psychiatric inpatients. One hundred twelve of the inpatients were women (54.9%), and the mean age of the 204 inpatients was 40.5 years (SD=13.2, range=18-83). Patients whose screen was positive for an impulse control disorder were evaluated with structured clinical interviews. Sixty-three patients (30.9%) were diagnosed with at least one current impulse control disorder. The most common impulse control disorders were compulsive buying (N=19 [9.3%]), kleptomania (N=16 [7.8%]), and pathological gambling (N=14 [6.9%]). Patients with and without co-occurring impulse control disorders did not differ significantly from each other on demographic measures or number or type of psychiatric diagnoses other than impulse control disorders. Impulse control disorders appear common among psychiatric inpatients. Additional, larger studies are needed to examine the prevalence of impulse control disorders in the general population and specific psychiatric groups.

  13. [Circadian rhythm sleep disorders in psychiatric diseases].

    Science.gov (United States)

    Bromundt, Vivien

    2014-11-01

    Circadian rhythm sleep disorders are prevalent among psychiatric patients. This is most probable due to a close relationship between functional disturbances of the internal clock, sleep regulation and mental health. Mechanisms on molecular level of the circadian clock and neurotransmitter signalling are involved in the development of both disorders. Moreover, circadian disorders and psychiatric diseases favour each other by accessory symptoms such as stress or social isolation. Actimetry to objectively quantify the rest-activity cycle and salivary melatonin profiles as marker for the circadian phase help to diagnose circadian rhythm sleep disorders in psychiatric patients. Chronotherapeutics such as bright light therapy, dark therapy, melatonin administration, and wake therapy are used to synchronise and consolidate circadian rhythms and help in the treatment of depression and other psychiatric disorders, but are still neglected in medicine. More molecular to behavioural research is needed for the understanding of the development of circadian disorders and their relationship to psychiatric illnesses. This will help to boost the awareness and treatment of circadian rhythm sleep disorders in psychiatry.

  14. Psychiatric screening of admissions to an accident and emergency ward.

    Science.gov (United States)

    Bell, G; Reinstein, D Z; Rajiyah, G; Rosser, R

    1991-04-01

    One hundred medical and surgical patients admitted to an accident and emergency ward were screened for psychiatric disorder. A psychiatric diagnosis was made in 37 patients, 32 of whom were correctly identified by the GHQ. Psychiatric morbidity was associated with being single, lower social class, unemployment, homelessness and living in Bloomsbury Health District or north-east London. It was also associated with not being registered with a GP. The 14 overdose patients were no more likely to receive a psychiatric diagnosis than other patients, yet constituted most of the psychiatric referrals. Few patients were asked by medical staff about emotional worries or problems. A desire to be asked such questions and a past psychiatric history were associated with a psychiatric diagnosis. Routine screening of psychiatric morbidity in both medical and surgical patients and appropriate psychiatric referral of identified patients is recommended. A system of facilitating GP registration is necessary, as much of the morbidity identified could be contained within primary care.

  15. 77 FR 12041 - Applications for New Awards; Migrant Education Program (MEP) Consortium Incentive Grants Program

    Science.gov (United States)

    2012-02-28

    ... Applications for New Awards; Migrant Education Program (MEP) Consortium Incentive Grants Program AGENCY: Office...: Migrant Education Program (MEP) Consortium Incentive Grants Program; Notice inviting applications for new..., to the Department at the following address: U.S. Department of ] Education, Application Control...

  16. Biodegradability of fluoxetine, mefenamic acid, and metoprolol using different microbial consortiums.

    Science.gov (United States)

    Velázquez, Yolanda Flores; Nacheva, Petia Mijaylova

    2017-03-01

    The biodegradation of fluoxetine, mefenamic acid, and metoprolol using ammonium-nitrite-oxidizing consortium, nitrite-oxidizing consortium, and heterotrophic biomass was evaluated in batch tests applying different retention times. The ammonium-nitrite-oxidizing consortium presented the highest biodegradation percentages for mefenamic acid and metoprolol, of 85 and 64% respectively. This consortium was also capable to biodegrade 79% of fluoxetine. The heterotrophic consortium showed the highest ability to biodegrade fluoxetine reaching 85%, and it also had a high potential for biodegrading mefenamic acid and metoprolol, of 66 and 58% respectively. The nitrite-oxidizing consortium presented the lowest biodegradation of the three pharmaceuticals, of less than 48%. The determination of the selected pharmaceuticals in the dissolved phase and in the biomass indicated that biodegradation was the major removal mechanism of the three compounds. Based on the obtained results, the biodegradation kinetics was adjusted to pseudo-first-order for the three pharmaceuticals. The values of k biol for fluoxetine, mefenamic acid, and metoprolol determined with the three consortiums indicated that ammonium-nitrite-oxidizing and heterotrophic biomass allow a partial biodegradation of the compounds, while no substantial biodegradation can be expected using nitrite-oxidizing consortium. Metoprolol was the less biodegradable compound. The sorption of fluoxetine and mefenamic acid onto biomass had a significant contribution for their removal (6-14%). The lowest sorption coefficients were obtained for metoprolol indicating that the sorption onto biomass is poor (3-4%), and the contribution of this process to the global removal can be neglected.

  17. 78 FR 47674 - Genome in a Bottle Consortium-Progress and Planning Workshop

    Science.gov (United States)

    2013-08-06

    ... Workshop AGENCY: National Institute of Standards & Technology (NIST), Commerce. ACTION: Notice of public workshop. SUMMARY: NIST announces the Genome in a Bottle Consortium meeting to be held on Thursday and... clinic. On April 13, 2012, NIST convened the workshop ``Genome in a Bottle'' to initiate a consortium to...

  18. 24 CFR 943.128 - How does a consortium carry out planning and reporting functions?

    Science.gov (United States)

    2010-04-01

    ... 24 Housing and Urban Development 4 2010-04-01 2010-04-01 false How does a consortium carry out planning and reporting functions? 943.128 Section 943.128 Housing and Urban Development Regulations... Consortia § 943.128 How does a consortium carry out planning and reporting functions? (a) During the term of...

  19. The creation of the SAVE consortium – Saving Asia's Vultures from ...

    African Journals Online (AJOL)

    This article describes the background to this problem, caused mainly by the veterinary drug diclofenac, and the establishment and structure of the SAVE consortium created to help coordinate the necessary conservation response. The lessons learnt in Asia and the working model of such a consortium are presented, which ...

  20. The Activities of the European Consortium on Nuclear Data Development and Analysis for Fusion

    Energy Technology Data Exchange (ETDEWEB)

    Fischer, U., E-mail: ulrich.fischer@kit.edu [Karlsruhe Institute of Technology, Institute for Neutron Physic and Reactor Technology, 76344 Eggenstein-Leopoldshafen (Germany); Avrigeanu, M.; Avrigeanu, V. [Horia Hulubei National Institute of Physics and Nuclear Engineering (IFIN-HH), RO-077125 Magurele (Romania); Cabellos, O. [Departamento de Ingenieria Nuclear, Universidad Politecnica de Madrid, 28006 Madrid (Spain); Kodeli, I. [Jozef Stefan Institute (JSI), Jamova 39, 1000 Ljubljana (Slovenia); Koning, A. [Nuclear Research and Consultancy Group (NRG), Westerduinweg 3, 1755 LE Petten (Netherlands); Konobeyev, A.Yu. [Karlsruhe Institute of Technology, Institute for Neutron Physic and Reactor Technology, 76344 Eggenstein-Leopoldshafen (Germany); Leeb, H. [Technische Universitaet Wien, Atominstitut, Wiedner Hauptstrasse 8–10, 1040 Wien (Austria); Rochman, D. [Nuclear Research and Consultancy Group (NRG), Westerduinweg 3, 1755 LE Petten (Netherlands); Pereslavtsev, P. [Karlsruhe Institute of Technology, Institute for Neutron Physic and Reactor Technology, 76344 Eggenstein-Leopoldshafen (Germany); Sauvan, P. [Universidad Nacional de Educacion a Distancia, C. Juan del Rosal, 12, 28040 Madrid (Spain); Sublet, J.-C. [Euratom/CCFE Fusion Association, Culham Science Centre, OX14 3DB (United Kingdom); Trkov, A. [Jozef Stefan Institute (JSI), Jamova 39, 1000 Ljubljana (Slovenia); Dupont, E. [OECD Nuclear Energy Agency, Paris (France); Leichtle, D.; Izquierdo, J. [Fusion for Energy, Barcelona (Spain)

    2014-06-15

    This paper presents an overview of the activities of the European Consortium on Nuclear Data Development and Analysis for Fusion. The Consortium combines available European expertise to provide services for the generation, maintenance, and validation of nuclear data evaluations and data files relevant for ITER, IFMIF and DEMO, as well as codes and software tools required for related nuclear calculations.

  1. Consortium de recherche pour le développement de l'agriculture en ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    Research Consortium for the Development of Agriculture in Haiti. Even before it was hit by a devastating earthquake in January 2010, Haiti's children suffered some of the worst rates of undernutrition in Latin America and the Caribbean. View moreResearch Consortium for the Development of Agriculture in Haiti ...

  2. Negative rumor: contagion of a psychiatric department.

    Science.gov (United States)

    Novac, Andrei; McEwan, Stephanie; Bota, Robert G

    2014-01-01

    Over the past few decades, a sizable body of literature on the effects of rumors and gossip has emerged. Addressing rumors in the workplace is an important subject, as rumors have a direct impact on the quality of the work environment and also on the productivity and creativity of the employees. To date, little has been written on the effect of rumors and gossip in psychiatric hospitals. This article presents case vignettes of rumors spread in psychiatric hospitals and the impact on team cohesion and morale among the staff implicated in these, too often, neglected occurrences. Dynamic aspects with particular focus on rumors in psychiatric units and suggestions for remedy and treatment are presented.

  3. Psychiatric Problems in Patients with Breast Cancer

    Directory of Open Access Journals (Sweden)

    Munevver Tunel

    2012-06-01

    Full Text Available Cancer is a physical disorder with concurrent mental and social components. During cancer, the feelings of fear, hopelessness, guilt, helplessness, abandonment perceived as a crisis leading to destruction in the suffering person. Breast cancer is the most common type of cancer among women. Prevalence of psychiatric disorders among cancer patients is approximately 50% and most of disorders are related with the occurrence of cancer and cancer treatment. Majority of patients present with major depression, adjustment disorder, anxiety disorders, sleep disorders, suicidial ideation, and delirium. Treatment of psychiatric disorders and cancer therapy should be conducted along with special consideration of drug interactions. This article reviews the adaptation process experienced by individuals during diagnosis and treatment of breast cancer, it psychological effects, resulting psychiatric comorbidites and their treatments. [Archives Medical Review Journal 2012; 21(3.000: 189-219

  4. An interprofessional psychiatric advanced pharmacy practice experience.

    Science.gov (United States)

    Goldstone, Lisa W; Cooley, Janet

    2013-08-12

    To create an interprofessional psychiatry advanced pharmacy practice experience (APPE) and assess the initial outcomes. An elective psychiatry APPE was developed in a setting of interdisciplinary practice. Preceptor responsibilities were shared between a psychiatric pharmacist and an attending psychiatrist or psychiatric nurse practitioner. Students were also given the opportunity to shadow and work with other health care professionals such as nurses, social workers, therapists, family nurse practitioners, and utilization review staff members. Midpoint and final evaluations demonstrated student advancement throughout the experience as well as the development of communication skills with patients and an increased ability to work collaboratively with other health care providers. Students rated this practice experience highly and their comments reflected achievement of the established learning objectives. An interdisciplinary elective practice experience in psychiatry at a local teaching hospital was effective in teaching psychiatric care and interprofessional interaction. This teaching model can be adapted for use in other practice settings or specialty areas.

  5. Psychiatric history in living kidney donor candidates.

    Science.gov (United States)

    Nishimura, Katsuji; Kobayashi, Sayaka; Ishigooka, Jun

    2012-04-01

    To critically discuss recent studies of living kidney donor candidates with a past or current psychiatric history and to offer guidance for the psychosocial evaluation of such donors. A global consensus has been developed that active, significant mental illness and substance abuse are absolute contraindications to organ donation due to diminished ability to make a well informed, rational decision about donation or to maintain health status after donation. However, to date, there has been little information published on the suitability for donation and the long-term psychosocial and medical outcomes after donation in donors with mental health issues, especially relatively milder psychiatric disorders, or past significant psychiatric history. To resolve the ethical dilemma of whether living donor candidates with mental health issues should be allowed to donate as is their right or be considered a vulnerable group in need of protection, we need more information. Information should include careful evaluation, possible intervention and follow-up to optimize donation.

  6. Ayahuasca in adolescence: a preliminary psychiatric assessment.

    Science.gov (United States)

    Da Silveira, Dartiu Xavier; Grob, Charles S; de Rios, Marlene Dobkin; Lopez, Enrique; Alonso, Luisa K; Tacla, Cristiane; Doering-Silveira, Evelyn

    2005-06-01

    Ayahuasca is believed to be harmless for those (including adolescents) drinking it within a religious setting. Nevertheless controlled studies on the mental/ psychiatric status of ritual hallucinogenic ayahuasca concoction consumers are still lacking. In this study, 40 adolescents from a Brazilian ayahuasca sect were compared with 40 controls matched on sex, age, and educational background for psychiatric symptomatology. Screening scales for depression, anxiety, alcohol consumption patterns (abuse), attentional problems, and body dysmorphic disorders were used. It was found that, compared to controls, considerable lower frequencies of positive scoring for anxiety, body dismorphism, and attentional problems were detected among ayahuasca-using adolescents despite overall similar psychopathological profiles displayed by both study groups. Low frequencies of psychiatric symptoms detected among adolescents consuming ayahuasca within a religious context may reflect a protective effect due to their religious affiliation. However further studies on the possible interference of other variables in the outcome are necessary.

  7. Psychiatric conditions in an evolutionary context.

    Science.gov (United States)

    Fabrega Jr, Horacio

    2004-01-01

    Psychiatric conditions and the institutions and practices that modern society has evolved to handle them originated during the nineteenth century in Anglo European societies. They are products of a historically contingent and culture specific formulation of a class of social problems of behavior that came to the fore in relation to intellectual and political economic changes of those societies. However, such problems have a long ancestry. They are intrinsic to human species and the social and cultural systems that its members have evolved since their emergence. This article reviews intellectual quandaries raised by evolutionary study of psychiatric conditions, those of crossing the human/animal divide and crossing historically contingent cultures; and of framing history of psychiatry in terms of social and cultural evolution. The biological architecture underlying psychiatric conditions and the breakthroughs that indigenous psychiatry of different types of societies underwent in formulating signs and symptoms are discussed. Copyright (c) 2004 S. Karger AG, Basel.

  8. Indian – American contributions to psychiatric research

    Science.gov (United States)

    Pandurangi, Anand K.

    2010-01-01

    The Indian Diaspora, especially in North America, is a visible force in the field of psychiatric medicine. An estimated 5000 persons of Indian origin practice psychiatry in the USA and Canada, and an estimated 10% of these are in academic psychiatry. Wide ranging contributions, from molecular biology of psychiatric disorders to community and cultural psychiatry, are being made by this vibrant group of researchers. This article is a brief summary and work-in-progress report of the contributions by Indian – American psychiatric researchers. Although not exhaustive in coverage, it is meant to give the reader an overview of the contributions made by three waves of researchers over a span of 50 years. PMID:21836715

  9. Ethical Challenges in Psychiatric Administration and Leadership.

    Science.gov (United States)

    Moffic, H Steven; Saeed, Sy Atezaz; Silver, Stuart; Koh, Steve

    2015-09-01

    As with all professional ethical principles, those in psychiatry have to evolve over time and societal changes. The current ethical challenges for psychiatric administration and leadership, especially regarding for-profit managed care, need updated solutions. One solution resides in the development by the American Association of Psychiatric Administrators (AAPA) of the first set of ethical principles designed specifically for psychiatric administrators. These principles build on prior Psychological Theories of leadership, such as those of Freud, Kernberg, and Kohut. Supplementing these theories are the actual real life models of psychiatrist leadership as depicted in the memoirs of various psychiatrists. Appreciating these principles, theories, and models may help emerging leaders to better recognize the importance of ethical challenges. A conclusion is that psychiatrists should have the potential to assume more successful leadership positions once again. In such positions, making the skills and well-being of all in the organization seems now to be the foremost ethical priority.

  10. The fungal consortium of Andromeda polifolia in bog habitats

    Directory of Open Access Journals (Sweden)

    N.V. Filippova

    2015-09-01

    Full Text Available (1 Andromeda polifolia (bog rosemary is a common plant species in northern circumboreal peatlands. While not a major peat-forming species in most peatlands, it is characterised by a substantial woody below-ground biomass component that contributes directly to the accumulation of organic matter below the moss surface, as well as sclerophyllous leaf litter that contributes to the accumulation of organic matter above the moss surface. Rather little is known about the fungal communities associated with this plant species. Hence, we investigated the fungal consortium of A. polifolia in three distinct vegetation communities of ombrotrophic bogs near Khanty-Mansiysk, West Siberia, Russia, in 2012 and 2013. These vegetation communities were forested bog (Tr = treed, Sphagnum-dominated lawn (Ln, and Eriophorum-Sphagnum-dominated hummock (Er. (2 In total, 37 fungal taxa, belonging to five classes and 16 families, were identified and described morphologically. Seven fungal species were previously known from Andromeda as host. Others are reported for the first time, thus considerably expanding the fungal consortium of this dwarf shrub. Most taxa were saprobic on fallen leaves of A. polifolia found amongst Sphagnum in the bog. Two taxa were parasitic on living plant tissues and one taxon was saprobic on dead twigs. Three taxa, recorded only on A. polifolia leaves and on no other plant species or materials, may be host-specific to this dwarf shrub. (3 A quantitative analysis of the frequency of occurrence of all taxa showed that one taxon (Coccomyces duplicarioides was very abundant, 64 % of the taxa occurred frequently, and 32 % of the taxa occurred infrequently. The mean Shannon diversity index of the community was 2.4. (4 There were no statistical differences in the fungal community composition of A. polifolia in the three vegetation communities investigated in this study. Redundancy analysis suggested that some fungal taxa were positively, and others

  11. STRUCTURE OF CONSORTIUM DESTRUCTIVE COMPONENTS IN THE INDUSTRIAL AREA OF KRIVYI RIG BASIN

    Directory of Open Access Journals (Sweden)

    V. V. Kachinskaya

    2014-07-01

    Full Text Available Тhe structural organization and a biological variety of ground mesofauna on consortium level of the organization of ecosystems are considered. The analysis of indicators of the structural organization and a biodiversity of ground mesofauna in consortium Ulmus and Populus in the conditions of territories of industrial mining – metallurgical complex of Krivyi Rig Basin is carried out. It is established that taxonomical structure of ground mesofauna is characterized by insignificant number and quantity of taxonomical groups. Prevalence in morfo-ecological structure of hortobiontes and herpetobiontes testifies about faunae considerable attachment to consortium determinants and influences of a steppe climate on its structure. Prevalence of phytophages and polyphages in trophic structure is caused by combination of determinants specificity of consortium and zone source of fauna formations. The structural organization of ground mesofauna in consortium Ulmus and Populus in the conditions of industrial sites is characterized simplified taxonomical structure with a low biodiversity at all levels. It was suggested that structural and functional organization of destructive components of the block consortium of Ulmus and Populus in the conditions of industrial sites are simplified and determined by biogeochemical patterns of pedogenic and leaf litter layer of consortium and type of anthropogenic impact. Management and sustainable use of consortium under technogenic pressure should be based on the effects of extreme and critical components in the evolution of consortium. These critical points are the type of leading man-made factors and pedogenic and leaf litter biogeochemical conditions of consortium determinants, which results in inhibition of development and simplification of the structural and functional organization of destructive components of the block. The elaboration of measures to restore and maintain that structural and functional organization

  12. Removal of two organophosphate pesticides by a bacterial consortium immobilized in alginate or tezontle.

    Science.gov (United States)

    Yañez-Ocampo, Gustavo; Sanchez-Salinas, Enrique; Jimenez-Tobon, Gloria Alicia; Penninckx, Michel; Ortiz-Hernández, María Laura

    2009-09-15

    In order to remove methyl-parathion (MP) and tetrachlorvinphos (TCF), a bacterial consortium was immobilized with two supports consisting of alginate beads or stones of tezontle colonized by biofilm. Removal kinetics were recorded for suspended and immobilized consortium using a mineral salt medium supplemented with MP and TCF at 25mg/L and with 0.1% (w/v) glucose as a co-substrate. The viability of the consortium cultivated in suspension was maintained for 6 days, whereas the viability of the consortium immobilized in alginate and tezontle supports was maintained for up to 11 and 13 days, respectively. Growth was enhanced when using glucose as a co-substrate. The percentage of MP removed was significantly higher (alpha=0.05) when consortium was immobilized in alginate beads and biofilm on tezontle as compared to suspension culture.

  13. Negative Rumor: Contagion of a Psychiatric Department

    OpenAIRE

    Novac, Andrei; McEwan, Stephanie; Bota, Robert G

    2014-01-01

    Over the past few decades, a sizable body of literature on the effects of rumors and gossip has emerged. Addressing rumors in the workplace is an important subject, as rumors have a direct impact on the quality of the work environment and also on the productivity and creativity of the employees. To date, little has been written on the effect of rumors and gossip in psychiatric hospitals. This article presents case vignettes of rumors spread in psychiatric hospitals and the impact on team cohe...

  14. Onconeural Antibodies in Acute Psychiatric Inpatient Care

    DEFF Research Database (Denmark)

    Sæther, Sverre Georg; Schou, Morten; Stoecker, Winfried

    2017-01-01

    Paraneoplastic neurological disorders associated with onconeural antibodies often appear with neuropsychiatric symptoms. To study the prevalence of onconeural antibodies in patients admitted to acute psychiatric inpatient care, the serum of 585 such patients was tested for antibodies targeting MOG......, GLRA1B, DPPX, GRM1, GRM5, DNER, Yo, ZIC4, GAD67, amphiphysin, CV2, Hu, Ri, Ma2, and recoverin. Only one sample was positive (antirecoverin IgG). The present findings suggest that serum onconeural antibody positivity is rare among patients acutely admitted for inpatient psychiatric care. The clinical...

  15. Psychiatric emergency services in Copenhagen 2012

    DEFF Research Database (Denmark)

    Moltke, Katinka; Høegh, Erica B; Sæbye, Ditte

    2015-01-01

    BACKGROUND: Since the first publication of the psychiatric emergency units (PEUs) in Copenhagen 1985, outpatient facilities have undergone considerable changes. Our aim is to examine how these changes have influenced the activities in the PEUs in the same catchment area. METHODS: We conducted...... reduced the number of visits in the PEUs considerably. The results have shown a change of diagnostic distribution and more severe conditions requiring acute admissions for emergency treatment. Close collaboration with the patients' families, GPs, social authorities and specialized psychiatric outpatient...

  16. The geriatric population and psychiatric medication.

    Science.gov (United States)

    Varma, Sannidhya; Sareen, Himanshu; Trivedi, J K

    2010-01-01

    With improvement in medical services in the last few years, there has been a constant rise in the geriatric population throughout the world, more so in the developing countries. The elderly are highly prone to develop psychiatric disorders, probably because of age related changes in the brain, concomitant physical disorders, as well as increased stress in later life. Psychiatric disorders in this population may have a different presentation than in other groups and some of psychopathologies might be mistaken for normal age related changes by an unwary clinician. Therefore the need of the day is to train psychiatrists and physicians to better recognize and manage mental disorders in this age group.

  17. Psychobiotics: An emerging probiotic in psychiatric practice

    Directory of Open Access Journals (Sweden)

    Arunava Kali

    2016-06-01

    Full Text Available Intestinal microbial flora plays critical role in maintenance of health. Probiotic organisms have been recognized as an essential therapeutic component in the treatment of intestinal dysbiosis. Current research suggests their health benefits extends beyond intestinal disorders. The neuroactive molecules produced by the gut microbiota has been found to modulate neural signals which affect neurological and psychiatric parameters like sleep, appetite, mood and cognition. Use of these novel probiotics opens up the possibility of restructuring of intestinal microbiota for effective management of various psychiatric disorders.

  18. Dissociative identity disorder in psychiatric inpatients.

    Science.gov (United States)

    Rifkin, A; Ghisalbert, D; Dimatou, S; Jin, C; Sethi, M

    1998-06-01

    The aim of this study was to replicate reports of a high rate of dissociative identity disorder in psychiatric inpatients. Subjects were 100 randomly selected women, 16-50 years old, who had recently been admitted to an acute psychiatric hospital. Diagnoses were made by two interviewers through use of the Structured Clinical Interview for DSM-IV Dissociative Disorders. One percent (N = 1) of the interviewed subjects had dissociative identity disorder. Contrary to previous studies, the authors found a low rate of dissociative identity disorder, perhaps because of the different methodology used.

  19. Psychiatric (Axis I) and personality (Axis II) disorders and subjective psychiatric symptoms in chronic tinnitus.

    Science.gov (United States)

    Sahlsten, Hanna; Taiminen, Tero; Karukivi, Max; Sjösten, Noora; Nikkilä, Johanna; Virtanen, Juuso; Paavola, Janika; Joutsa, Juho; Niinivirta-Joutsa, Katri; Takala, Mari; Holm, Anu; Rauhala, Esa; Löyttyniemi, Eliisa; Johansson, Reijo; Jääskeläinen, Satu K

    2017-11-30

    Chronic tinnitus has been associated with several psychiatric disorders. Only few studies have investigated these disorders using validated diagnostic interviews. The aims were to diagnose psychiatric and personality disorders with structured interviews, to assess self-rated psychiatric symptoms and elucidate temporal relations between psychiatric disorders and tinnitus. Current and lifetime DSM-IV diagnoses of axis-I (psychiatric disorders) and axis-II (personality disorders) were assessed using structured clinical interviews (SCID-I and -II). Current subjective psychiatric symptoms were evaluated via self-rating instruments: the Symptom Check List-90 (SCL-90), the Beck Depression Inventory, and the Dissociative Experiences Scale (DES). 83 patients (mean age 51.7, 59% men) with chronic, disturbing tinnitus and a median Tinnitus Handicap Inventory score of 32. The rates of lifetime and current major depression were 26.5% and 2.4%. The lifetime rate of obsessive-compulsive personality disorder (type C) was 8.4%. None of the patients had cluster B personality disorder or psychotic symptoms. The SCL-90 subscales did not differ from the general population, and median DES score was low, 2.4. Tinnitus patients are prone to episodes of major depression and often also have obsessive-compulsive personality features. Psychiatric disorders seem to be comorbid or predisposing conditions rather than consequences of tinnitus. Clinical trial reference: ClinicalTrials.gov (ID NCT 01929837).

  20. Assessment of microalgae and nitrifiers activity in a consortium in a continuous operation and the effect of oxygen depletion

    Directory of Open Access Journals (Sweden)

    Gustavo Vargas

    2016-09-01

    Conclusions: The consortium it can be obtained in a single continuous operation, and has a high capacity for nitrogen removal with low oxygen content. The consortium could prove to be a more economical method compared to traditional.

  1. 77 FR 25406 - Consortium on “Concrete Rheology: Enabling Metrology (CREME)”: Membership Fee Update

    Science.gov (United States)

    2012-04-30

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF COMMERCE National Institute of Standards and Technology Consortium on ``Concrete Rheology: Enabling Metrology (CREME... NIST/Industry Consortium on Concrete Rheology: Enabling Metrology (CREME)''. The notice stated that...

  2. MiRNA-Related SNPs and Risk of Esophageal Adenocarcinoma and Barrett’s Esophagus: Post Genome-Wide Association Analysis in the BEACON Consortium

    Science.gov (United States)

    Buas, Matthew F.; Onstad, Lynn; Levine, David M.; Risch, Harvey A.; Chow, Wong-Ho; Liu, Geoffrey; Fitzgerald, Rebecca C.; Bernstein, Leslie; Ye, Weimin; Bird, Nigel C.; Romero, Yvonne; Casson, Alan G.; Corley, Douglas A.; Shaheen, Nicholas J.; Wu, Anna H.; Gammon, Marilie D.; Reid, Brian J.; Hardie, Laura J.; Peters, Ulrike; Whiteman, David C.; Vaughan, Thomas L.

    2015-01-01

    Incidence of esophageal adenocarcinoma (EA) has increased substantially in recent decades. Multiple risk factors have been identified for EA and its precursor, Barrett’s esophagus (BE), such as reflux, European ancestry, male sex, obesity, and tobacco smoking, and several germline genetic variants were recently associated with disease risk. Using data from the Barrett’s and Esophageal Adenocarcinoma Consortium (BEACON) genome-wide association study (GWAS) of 2,515 EA cases, 3,295 BE cases, and 3,207 controls, we examined single nucleotide polymorphisms (SNPs) that potentially affect the biogenesis or biological activity of microRNAs (miRNAs), small non-coding RNAs implicated in post-transcriptional gene regulation, and deregulated in many cancers, including EA. Polymorphisms in three classes of genes were examined for association with risk of EA or BE: miRNA biogenesis genes (157 SNPs, 21 genes); miRNA gene loci (234 SNPs, 210 genes); and miRNA-targeted mRNAs (177 SNPs, 158 genes). Nominal associations (P0.50), and we did not find evidence for interactions between variants analyzed and two risk factors for EA/BE (smoking and obesity). This analysis provides the most extensive assessment to date of miRNA-related SNPs in relation to risk of EA and BE. While common genetic variants within components of the miRNA biogenesis core pathway appear unlikely to modulate susceptibility to EA or BE, further studies may be warranted to examine potential associations between unassessed variants in miRNA genes and targets with disease risk. PMID:26039359

  3. MiRNA-Related SNPs and Risk of Esophageal Adenocarcinoma and Barrett's Esophagus: Post Genome-Wide Association Analysis in the BEACON Consortium.

    Directory of Open Access Journals (Sweden)

    Matthew F Buas

    Full Text Available Incidence of esophageal adenocarcinoma (EA has increased substantially in recent decades. Multiple risk factors have been identified for EA and its precursor, Barrett's esophagus (BE, such as reflux, European ancestry, male sex, obesity, and tobacco smoking, and several germline genetic variants were recently associated with disease risk. Using data from the Barrett's and Esophageal Adenocarcinoma Consortium (BEACON genome-wide association study (GWAS of 2,515 EA cases, 3,295 BE cases, and 3,207 controls, we examined single nucleotide polymorphisms (SNPs that potentially affect the biogenesis or biological activity of microRNAs (miRNAs, small non-coding RNAs implicated in post-transcriptional gene regulation, and deregulated in many cancers, including EA. Polymorphisms in three classes of genes were examined for association with risk of EA or BE: miRNA biogenesis genes (157 SNPs, 21 genes; miRNA gene loci (234 SNPs, 210 genes; and miRNA-targeted mRNAs (177 SNPs, 158 genes. Nominal associations (P0.50, and we did not find evidence for interactions between variants analyzed and two risk factors for EA/BE (smoking and obesity. This analysis provides the most extensive assessment to date of miRNA-related SNPs in relation to risk of EA and BE. While common genetic variants within components of the miRNA biogenesis core pathway appear unlikely to modulate susceptibility to EA or BE, further studies may be warranted to examine potential associations between unassessed variants in miRNA genes and targets with disease risk.

  4. MiRNA-Related SNPs and Risk of Esophageal Adenocarcinoma and Barrett's Esophagus: Post Genome-Wide Association Analysis in the BEACON Consortium.

    Science.gov (United States)

    Buas, Matthew F; Onstad, Lynn; Levine, David M; Risch, Harvey A; Chow, Wong-Ho; Liu, Geoffrey; Fitzgerald, Rebecca C; Bernstein, Leslie; Ye, Weimin; Bird, Nigel C; Romero, Yvonne; Casson, Alan G; Corley, Douglas A; Shaheen, Nicholas J; Wu, Anna H; Gammon, Marilie D; Reid, Brian J; Hardie, Laura J; Peters, Ulrike; Whiteman, David C; Vaughan, Thomas L

    2015-01-01

    Incidence of esophageal adenocarcinoma (EA) has increased substantially in recent decades. Multiple risk factors have been identified for EA and its precursor, Barrett's esophagus (BE), such as reflux, European ancestry, male sex, obesity, and tobacco smoking, and several germline genetic variants were recently associated with disease risk. Using data from the Barrett's and Esophageal Adenocarcinoma Consortium (BEACON) genome-wide association study (GWAS) of 2,515 EA cases, 3,295 BE cases, and 3,207 controls, we examined single nucleotide polymorphisms (SNPs) that potentially affect the biogenesis or biological activity of microRNAs (miRNAs), small non-coding RNAs implicated in post-transcriptional gene regulation, and deregulated in many cancers, including EA. Polymorphisms in three classes of genes were examined for association with risk of EA or BE: miRNA biogenesis genes (157 SNPs, 21 genes); miRNA gene loci (234 SNPs, 210 genes); and miRNA-targeted mRNAs (177 SNPs, 158 genes). Nominal associations (P0.50), and we did not find evidence for interactions between variants analyzed and two risk factors for EA/BE (smoking and obesity). This analysis provides the most extensive assessment to date of miRNA-related SNPs in relation to risk of EA and BE. While common genetic variants within components of the miRNA biogenesis core pathway appear unlikely to modulate susceptibility to EA or BE, further studies may be warranted to examine potential associations between unassessed variants in miRNA genes and targets with disease risk.

  5. Consortium for Algal Biofuel Commercialization (CAB-COMM) Final Report

    Energy Technology Data Exchange (ETDEWEB)

    Mayfield, Stephen P. [Univ. of California, San Diego, CA (United States)

    2015-12-04

    The Consortium for Algal Biofuel Commercialization (CAB-Comm) was established in 2010 to conduct research to enable commercial viability of alternative liquid fuels produced from algal biomass. The main objective of CAB-Comm was to dramatically improve the viability of algae as a source of liquid fuels to meet US energy needs, by addressing several significant barriers to economic viability. To achieve this goal, CAB-Comm took a diverse set of approaches on three key aspects of the algal biofuels value chain: crop protection; nutrient utilization and recycling; and the development of genetic tools. These projects have been undertaken as collaboration between six academic institutions and two industrial partners: University of California, San Diego; Scripps Institution of Oceanography; University of Nebraska, Lincoln; Rutgers University; University of California, Davis; Johns Hopkins University; Sapphire Energy; and Life Technologies.

  6. CREAT A CONSORTIUM AND DEVELOP PREMIUM CARBON PRODUCTS FROM COAL

    Energy Technology Data Exchange (ETDEWEB)

    John M. Andresen

    2003-08-01

    The Consortium for Premium Carbon Products from Coal, with funding from the U.S. Department of Energy's National Energy Technology Laboratory and matching funds from industry and academic institutions continued to excel in developing innovative technologies to use coal and coal-derived feedstocks to produce premium carbon product. During Budget Period 5, eleven projects were supported and sub-contracted were awarded to seven organizations. The CPCPC held two meetings and one tutorial at various locations during the year. Budget Period 5 was a time of growth for CPCPC in terms of number of proposals and funding requested from members, projects funded and participation during meetings. Although the membership was stable during the first part of Budget Period 5 an increase in new members was registered during the last months of the performance period.

  7. The CEPH consortium linkage map of human chromosome 13

    Energy Technology Data Exchange (ETDEWEB)

    Bowcock, A.M.; Barnes, R.I. [Univ. of Texas Southwestern Medical Center, Dallas, TX (United States); Gerken, S.C.; Leppert, M. [Univ. of Utah School of Medicine, Salt Lake City, UT (United States); Shiang, R. [Univ. of Iowa, Iowa City, IA (United States); Jabs, E.W.; Warren, A.C.; Antonarakis, S. [Johns Hopkins School of Medicine, Baltimore, MD (United States); Retief, A.E. [Univ. of Stellenbosch, Tygerberg (South Africa); Vergnaud, G. [Centre d`Etudes du Bouchet, Vert le Petit (France)] [and others

    1993-05-01

    The CEPH consortium map of chromosome 13 is presented. This map contains 59 loci defined by genotypes generated from CEPH family DNAs with 94 different probe and restriction enzyme combinations contributed by 9 laboratories. A total of 25 loci have been placed on the map with likelihood support of at least 1000:1. The map extends from loci in the centromeric region of chromosome 13 to the terminal band of the long arm. Multipoint linkage analyses provided estimates that the male, female, and sex-averaged maps extend for 158, 203, and 178cM respectively. The largest interval is 24 cM and is between D13Z1 (alphaRI) and ATP1AL1. The mean genetic distance between the 25 uniquely placed loci is 7 cM. 76 refs., 3 figs., 5 tabs.

  8. The CEPH consortium linkage map of human chromosome 13.

    Science.gov (United States)

    Bowcock, A M; Gerken, S C; Barnes, R I; Shiang, R; Jabs, E W; Warren, A C; Antonarakis, S; Retief, A E; Vergnaud, G; Leppert, M

    1993-05-01

    The CEPH consortium map of chromosome 13 is presented. This map contains 59 loci defined by genotypes generated from CEPH family DNAs with 94 different probe and restriction enzyme combinations contributed by 9 laboratories. A total of 25 loci have been placed on the map with likelihood support of at least 1000:1. The map extends from loci in the centromeric region of chromosome 13 to the terminal band of the long arm. Multipoint linkage analyses provided estimates that the male, female, and sex-averaged maps extend for 158, 203, and 178 cM respectively. The largest interval is 24 cM and is between D13Z1 (alpha RI) and ATP1AL1. The mean genetic distance between the 25 uniquely placed loci is 7 cM.

  9. The CEPH consortium linkage map of human chromosome 2

    Energy Technology Data Exchange (ETDEWEB)

    Spurr, N.K.; Cox, S.; Bryant, S.P. (Human Genetic Resources Unit, Herts (United Kingdom)); Attwood, J. (Univ. College London (United Kingdom)); Shields, D.C. (Princess Anne Hospital, Southampton (United Kingdom)); Steinbrueck, T.; Donis-Keller, H. (Washington Univ. School of medicine, St. Louis, MO (United States)); Jenkins, T. (Univ. of Witwatersrand, Johannesburg (South Africa)); Murray, J.C. (Univ. of Iowa, Iowa City, IA (United States)); Kidd, K.K. (Yale Univ. School of Medicine, New Haven, CT (United States)) (and others)

    1992-12-01

    This paper describes the Centre d'Etude du Polymorphisme Humain (CEPH) consortium linkage map of chromosome 2. The map contains 36 loci defined by genotyping generated from the CEPH family DNAs. A total of 73 different markers were typed by 14 contributing laboratories; of these, 36 loci are ordered on the map with likelihood support of at least 1000:1. Markers are placed along the length of the chromosome but no markers were available to anchor the map at either telomere or the centromere. Multilocus linkage analysis has produced male, female, and sex-averaged maps extending for 261, 430, and 328 cM, respectively. The sex-averaged map contains five intervals greater than 15 cM and the mean genetic distance between the 36 uniquely placed loci is 9.1 cM. 25 refs., 2 figs., 4 tabs.

  10. The CEPH consortium linkage map of human chromosome 2.

    Science.gov (United States)

    Spurr, N K; Cox, S; Bryant, S P; Attwood, J; Robson, E B; Shields, D C; Steinbrueck, T; Jenkins, T; Murray, J C; Kidd, K K

    1992-12-01

    This paper describes the Centre d'Etude du Polymorphisme Humain (CEPH) consortium linkage map of chromosome 2. The map contains 36 loci defined by genotyping generated from the CEPH family DNAs. A total of 73 different markers were typed by 14 contributing laboratories; of these, 36 loci are ordered on the map with likelihood support of at least 1000:1. Markers are placed along the length of the chromosome but no markers were available to anchor the map at either telomere or the centromere. Multilocus linkage analysis has produced male, female, and sex-averaged maps extending for 261, 430, and 328 cM, respectively. The sex-averaged map contains five intervals greater than 15 cM and the mean genetic distance between the 36 uniquely placed loci is 9.1 cM.

  11. The CEPH consortium linkage map of human chromosome 15q.

    Science.gov (United States)

    Bowcock, A M; Barnes, R I; White, R L; Kruse, T A; Tsipouras, P; Sarfarazi, M; Jenkins, T; Viljoen, C; Litt, M; Kramer, P L

    1992-12-01

    The CEPH consortium map of chromosome 15q is presented. The map contains 41 loci defined by genotypes generated from CEPH family DNAs with 45 different probe and restriction enzyme combinations contributed by 10 laboratories. A total of 29 loci have been placed on the map with likelihood support of at least 1000:1. The map extends from 15q13 to 15q25-qter. Multipoint linkage analyses provided estimates that the male, female, and sex-averaged maps extend for 127, 190, and 158 cM, respectively. The largest interval is 21 cM and is between D15S37 and D15S74. The on-average locus spacing is 5.6 cM and the mean genetic distance between the 21 uniquely placed loci is 8 cM.

  12. The CEPH consortium linkage map of human chromosome 15q

    Energy Technology Data Exchange (ETDEWEB)

    Bowcock, A.M.; Barnes, R.I. (Univ. of Texas Southwestern Medical Center, Dallas, TX (United States)); White, R.L. (Univ. of Utah Medical Center, Salt Lake City, UT (United States)); Kruse, T.A. (Aarhus Universitet (Denmark)); Tsipouras, P.; Sarfarazi, M. (Univ. of Connecticut Health Center, Farmington, CT (United States)); Litt, M.; Kramer, P.L. (Oregon Health Sciences Univ., Portland, OR (United States)); Jenkins, T.; Viljoen, C. (and others)

    1992-12-01

    The CEPH consortium map of chromosome 15q is presented. The map contains 41 loci defined by genotypes generated from CEPH family DNAs with 45 different probe and restriction enzyme combinations contributed by 10 laboratories. A total of 29 loci have been placed on the map with likelihood support of at least 1000:1. The map extends from 15q13 to 15q25-qter. Multipoint linkage analyses provided estimates that the male, female, and sex-averaged maps extend for 127, 190, and 158 cM, respectively. The largest interval is 21 cM and is between D15S37 and D15S74. The on-average locus spacing is 5.6 cM and the mean genetic distance between the 21 uniquely placed loci is 8 cM. 61 refs., 1 fig., 4 tabs.

  13. The international consortium on the Ehlers-Danlos syndromes.

    Science.gov (United States)

    Bloom, Lara; Byers, Peter; Francomano, Clair; Tinkle, Brad; Malfait, Fransiska

    2017-03-01

    Since 1998, two developments have led to concerns that the EDS nosology needs to be substantially revised. The first development was the clinical and molecular characterization of several new EDS variants, which substantially broadened the molecular basis underlying EDS. The second was the growing concern, in the absence of genetic diagnosis, that the hypermobile type of EDS had an expanded phenotype, may be genetically heterogeneous, and that the diagnostic criteria currently in use were inadequate. Furthermore, there is a dire need for the development of guidelines for management for each type of EDS to allow both the specialist and the generalist to care for affected individuals and their families. We have been meeting together as an international consortium over the past 2 years to establish these new criteria and management and care guidelines © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

  14. Collaborative community research consortium: a model for HIV prevention.

    Science.gov (United States)

    Sanstad, K H; Stall, R; Goldstein, E; Everett, W; Brousseau, R

    1999-04-01

    In 1991, the Center for AIDS Prevention Studies (CAPS) at the University of California, San Francisco, set out to develop a model of community collaborative research that would bring the skills of science to the service of HIV prevention and the knowledge of service providers into the domain of research. Essential elements of the model were training for community-based organizations (CBOs) in research protocol writing, partnership between CBOs and CAPS researchers, program research funding, support to implement studies and analyze results, and a program manager to oversee the effort and foster the relationships between CBOs and researchers. In this article, the authors describe the CAPS model of consortium-based community collaborative research. They also introduce a set of papers, written by researchers and service providers, that describes collaborative research projects conducted by research institutions and CBOs and illustrates how collaboration can change both HIV prevention research and service.

  15. Valuing psychiatric patients' stories: belief in and use of the supernatural in the Jamaican psychiatric setting.

    Science.gov (United States)

    James, Caryl C A B; Carpenter, Karen A; Peltzer, Karl; Weaver, Steve

    2014-04-01

    The aim of this study was to examine illness presentation and understand how psychiatric patients make meaning of the causes of their mental illnesses. Six Jamaican psychiatric patients were interviewed using the McGill Illness Narrative Interview Schedule. Of the 6, 3 representative case studies were chosen. The hermeneutic phenomenological approach and the common sense model were used in the formulation of patients' explanatory models. Results indicate that psychiatric patients actively conceptualized the causes and resultant treatment of their mental illnesses. Patients' satisfaction and compliance with treatment were dependent on the extent to which practitioners' conceptualization matched their own, as well as practitioners' acknowledgement of patients' concerns about causation, prognosis, and treatment.

  16. Physiological characterization of a broad spectrum reductively dechlorinating consortium

    Science.gov (United States)

    Lorah, M.M.; Majcher, E.; Jones, E.; Driedger, G.; Dworatzek, S.; Graves, D.

    2005-01-01

    A wetland sediment-derived microbial consortium (WBC-2) was developed by the US Geological Survey and propagated in vitro to large quantities by SiREM Laboratory for potential use in bioaugmentation applications. On the basis of bench-scale tests, the consortium could completely dechlorinate 1,1,2,2-tetrachloroethylene, tetrachloroethylene, trichloroethylene, 1,1,2-trichloroethane, cis- and trans-1,2-dichoroethylene, 1,1-dichloroethylene, 1,2-dichloroethane, and vinyl chloride in culture medium. Batch microcosms were carried out under anaerobic conditions in culture medium with neutral pH and with pH adjusted from acidic (pH 4, 5, and 6) to alkaline (pH 8 and 9). To evaluate oxygen sensitivity of WBC-2, an aliquot was removed from an anaerobic culture vessel and poured into smaller containers on the bench top where a series of oxygen exposures were applied to the culture by bubbling ambient air through the culture at a rate of ??? 100 mL/min. Chlorinated methanes tended to inhibit activity of a wide range of microorganisms. Although toxicity effects from CT addition were observed with WBC-2 in liquid culture at 3 mg/L concentration, WBC-2 in the columns could maintain degradation of CT and chloroform (CF) and of the chlorinated ethanes and ethylenes at CT and CF concentrations of 10 and 20 mg/L, respectively. This is an abstract of a paper presented at the Proceedings of the 8th International In Situ and On-Site Bioremediation Symposium (Baltimore, MD 6/6-9/2005).

  17. On the Need to Establish an International Soil Modeling Consortium

    Science.gov (United States)

    Vereecken, H.; Vanderborght, J.; Schnepf, A.

    2014-12-01

    Soil is one of the most critical life-supporting compartments of the Biosphere. Soil provides numerous ecosystem services such as a habitat for biodiversity, water and nutrients, as well as producing food, feed, fiber and energy. To feed the rapidly growing world population in 2050, agricultural food production must be doubled using the same land resources footprint. At the same time, soil resources are threatened due to improper management and climate change. Despite the many important functions of soil, many fundamental knowledge gaps remain, regarding the role of soil biota and biodiversity on ecosystem services, the structure and dynamics of soil communities, the interplay between hydrologic and biotic processes, the quantification of soil biogeochemical processes and soil structural processes, the resilience and recovery of soils from stress, as well as the prediction of soil development and the evolution of soils in the landscape, to name a few. Soil models have long played an important role in quantifying and predicting soil processes and related ecosystem services. However, a new generation of soil models based on a whole systems approach comprising all physical, mechanical, chemical and biological processes is now required to address these critical knowledge gaps and thus contribute to the preservation of ecosystem services, improve our understanding of climate-change-feedback processes, bridge basic soil science research and management, and facilitate the communication between science and society. To meet these challenges an international community effort is required, similar to initiatives in systems biology, hydrology, and climate and crop research. Our consortium will bring together modelers and experimental soil scientists at the forefront of new technologies and approaches to characterize soils. By addressing these aims, the consortium will contribute to improve the role of soil modeling as a knowledge dissemination instrument in addressing key

  18. The Impact of Psychiatric Patient Boarding in Emergency Departments

    Directory of Open Access Journals (Sweden)

    B. A. Nicks

    2012-01-01

    Full Text Available Objectives. Studies have demonstrated the adverse effects of emergency department (ED boarding. This study examines the impact of resource utilization, throughput, and financial impact for psychiatric patients awaiting inpatient placement. Methods. The authors retrospectively studied all psychiatric and non-psychiatric adult admissions in an Academic Medical Center ED (>68,000 adult visits from January 2007-2008. The main outcomes were ED length of stay (LOS and associated reimbursement. Results. 1,438 patients were consulted to psychiatry with 505 (35.1% requiring inpatient psychiatric care management. The mean psychiatric patient age was 42.5 years (SD 13.1 years, with 2.7 times more women than men. ED LOS was significantly longer for psychiatric admissions (1089 min, CI (1039–1140 versus 340 min, CI (304–375; <0.001 when compared to non-psychiatric admissions. The financial impact of psychiatric boarding accounted for a direct loss of ($1,198 compared to non-psychiatric admissions. Factoring the loss of bed turnover for waiting patients and opportunity cost due to loss of those patients, psychiatric patient boarding cost the department $2,264 per patient. Conclusions. Psychiatric patients awaiting inpatient placement remain in the ED 3.2 times longer than non-psychiatric patients, preventing 2.2 bed turnovers (additional patients per psychiatric patient, and decreasing financial revenue.

  19. A replication study of GWAS-derived lipid genes in Asian Indians: the chromosomal region 11q23.3 harbors loci contributing to triglycerides.

    Directory of Open Access Journals (Sweden)

    Timothy R Braun

    Full Text Available Recent genome-wide association scans (GWAS and meta-analysis studies on European populations have identified many genes previously implicated in lipid regulation. Validation of these loci on different global populations is important in determining their clinical relevance, particularly for development of novel drug targets for treating and preventing diabetic dyslipidemia and coronary artery disease (CAD. In an attempt to replicate GWAS findings on a non-European sample, we examined the role of six of these loci (CELSR2-PSRC1-SORT1 rs599839; CDKN2A-2B rs1333049; BUD13-ZNF259 rs964184; ZNF259 rs12286037; CETP rs3764261; APOE-C1-C4-C2 rs4420638 in our Asian Indian cohort from the Sikh Diabetes Study (SDS comprising 3,781 individuals (2,902 from Punjab and 879 from the US. Two of the six SNPs examined showed convincing replication in these populations of Asian Indian origin. Our study confirmed a strong association of CETP rs3764261 with high-density lipoprotein cholesterol (HDL-C (p = 2.03×10(-26. Our results also showed significant associations of two GWAS SNPs (rs964184 and rs12286037 from BUD13-ZNF259 near the APOA5-A4-C3-A1 genes with triglyceride (TG levels in this Asian Indian cohort (rs964184: p = 1.74×10(-17; rs12286037: p = 1.58×10(-2. We further explored 45 SNPs in a ∼195 kb region within the chromosomal region 11q23.3 (encompassing the BUD13-ZNF259, APOA5-A4-C3-A1, and SIK3 genes in 8,530 Asian Indians from the London Life Sciences Population (LOLIPOP (UK and SDS cohorts. Five more SNPs revealed significant associations with TG in both cohorts individually as well as in a joint meta-analysis. However, the strongest signal for TG remained with BUD13-ZNF259 (rs964184: p = 1.06×10(-39. Future targeted deep sequencing and functional studies should enhance our understanding of the clinical relevance of these genes in dyslipidemia and hypertriglyceridemia (HTG and, consequently, diabetes and CAD.

  20. 45 CFR 287.30 - If an eligible consortium breaks up, what happens to the NEW Program grant?

    Science.gov (United States)

    2010-10-01

    ... 45 Public Welfare 2 2010-10-01 2010-10-01 false If an eligible consortium breaks up, what happens to the NEW Program grant? 287.30 Section 287.30 Public Welfare Regulations Relating to Public Welfare... eligible consortium breaks up, what happens to the NEW Program grant? (a) If a consortium should break up...

  1. STRUCTURE OF CONSORTIUM DESTRUCTIVE COMPONENTS IN THE INDUSTRIAL AREA OF KRIVYI RIG BASIN

    Directory of Open Access Journals (Sweden)

    Kachinskaya V.V.

    2014-08-01

    Full Text Available Тhe structural organization and a biological variety of ground mesofauna on consortium level of the organization of ecosystems are considered. The analysis of indicators of the structural organization and a biodiversity of ground mesofauna in consortium Ulmus and Populus in the conditions of territories of industrial mining – metallurgical complex of Krivyi Rig Basin is carried out. It is established that taxonomical structure of ground mesofauna is characterized by insignificant number and quantity of taxonomical groups. Prevalence in morfo-ecological structure of hortobiontes and herpetobiontes testifies about faunae considerable attachment to consortium determinants and influences of a steppe climate on its structure. Prevalence of phytophages and polyphages in trophic structure is caused by combination of determinants specificity of consortium and zone source of fauna formations. The structural organization of ground mesofauna in consortium Ulmus and Populus in the conditions of industrial sites is characterized simplified taxonomical structure with a low biodiversity at all levels. It was suggested that structural and functional organization of destructive components of the block consortium of Ulmus and Populus in the conditions of industrial sites are simplified and determined by biogeochemical patterns of pedogenic and leaf litter layer of consortium and type of anthropogenic impact. Management and sustainable use of consortium under technogenic pressure should be based on the effects of extreme and critical components in the evolution of consortium. These critical points are the type of leading man-made factors and pedogenic and leaf litter biogeochemical conditions of consortium determinants, which results in inhibition of development and simplification of the structural and functional organization of destructive components of the block. The elaboration of measures to restore and maintain that structural and functional organization

  2. Asperger Syndrome: Associated Psychiatric and Medical Conditions.

    Science.gov (United States)

    Ghaziuddin, Mohammad

    2002-01-01

    This article explores the association of medical and psychiatric conditions with Asperger syndrome, based mainly on publications from the last two decades. It examines comorbidity of Asperger syndrome with mood disorders, schizophrenia, obsessive-compulsive disorder, attention deficit/hyperactivity disorder, tic disorders, violence and aggression,…

  3. [Burden of psychiatric diseases in Chile].

    Science.gov (United States)

    Vicente P, Benjamín; Kohn, Robert; Saldivia B, Sandra; Rioseco S, Pedro

    2007-12-01

    Chile has one of the highest disease burdens caused by neuropsychiatric illnesses in the world, according to WHO, reaching to 31%. Major depression and alcohol use disorders are ranked first and second in attributed disability among adults. Nearly one-third of the population has had a psychiatric disorder in their lifetime, and 22.2% in the past year. Anxiety disorders are the most prevalent conditions, followed by major depression and alcohol abuse. Currently, mental health accounts for 2.3%) of the health care budget, which is less than some neighboring countries. The availability of 1.3 psychiatric beds per 10,000 inhabitants, is less than the mean of lower-income countries. Moreover, 81% are for chronic rather than acute care. Chile has 4.0 psychiatrist per 100,000 inhabitants, which is lower than other countries in Latin America. Only 38.5% of those patients with a psychiatric diagnosis receive any kind of mental health care, whether from a specialist or primary care. There is a perception among lay persons, that psychiatric treatments lack efficacy, despite evidence demonstrating the contrary. Not addressing the treatment gap in mental health has serious public health implications.

  4. Chronic psychiatric status and satisfaction with life

    NARCIS (Netherlands)

    Arrindell, W.A.; van Nieuwenhuizen, Ch; Luteijn, F.

    The present study represents the first to administer the Satisfaction With Life Scale (SWLS) as part of a. semi-structured interview to a large sample of psychiatric patients with severe mental illness. psychometric appraisal of the SWLS demonstrated that figures on its internal structure were quite

  5. Out and Down: Incarceration and Psychiatric Disorders

    Science.gov (United States)

    Schnittker, Jason; Massoglia, Michael; Uggen, Christopher

    2012-01-01

    Psychiatric disorders are unusually prevalent among current and former inmates, but it is not known what this relationship reflects. A putative causal relationship is contaminated by assorted influences, including childhood disadvantage, the early onset of most disorders, and the criminalization of substance use. Using the National Comorbidity…

  6. Psychiatric Assessment and Rehabilitation of Burn Patients

    Directory of Open Access Journals (Sweden)

    Süleyman Akarsu

    2017-03-01

    Full Text Available Objective: Psychiatric rehabilitation has gained significance owing to improved healthcare facilities for burn injuries and decreased mortality/ morbidity rates. Burn traumas may result in psychiatric signs such as denial, anger, guilt, confusion, disgrace, anxiety, distress, and nervousness. Psychiatric disorders such as delirium, depression, anxiety, post-traumatic stress disorder, and sexual problems can also be encountered. Therefore, it is necessary to look for these signs and disorders through regular sessions with burn patients and appropriate psychometric tests. This study aims at examining the process of psychological rehabilitation for burn patients in light of the current literature. Material and Methods: This study has been carried out in the light of the main and current literature review. The study intends to put forth the data observed in the course of the psychological diagnosis, treatment and rehabilitation of burn patients. The study has been conducted in accordance with the Helsinki Declaration Guidelines. Results: Treatment and rehabilitation process requires a multidisciplinary teamwork that consists of physicians, dieticians, psychologists, social service specialists, and other healthcare workers who can meet the needs of burn patients and their families. It is necessary for the team to contribute both to the hospitalization process and the social environment of the patients and their families. Conclusion: It is observed that the quality of life of these patients can be considerably improved with the effective assessment of psychiatric signs that occur during or after the injury and with appropriate treatment methods.

  7. PSYCHIATRIC MORBIDITY IN A NIGERIAN NEUROLOGY CLINIC

    African Journals Online (AJOL)

    2013-05-28

    May 28, 2013 ... East African Medical Journal Vol. 89 No. 2 February 2012. PSYCHIATRIC MORBIDITY IN A NIGERIAN NEUROLOGY CLINIC. P. O. Ajiboye, FWACP, Senior Lecturer/ Consultant Psychiatrist, Department of Behavioural Sciences, University of Ilorin/. University of Ilorin Teaching Hospital, Ilorin, Kwara State, ...

  8. EDITORIAL PSYCHIATRIC ILLNESS AMONG JUVENILES AND ...

    African Journals Online (AJOL)

    Kateee

    2003-06-01

    Jun 1, 2003 ... PSYCHIATRIC ILLNESS AMONG JUVENILES AND ADOLESCENTS IN KENYA. Twenty years ago, FGN, ..... and adolescence may show a good deal of shift from conduct disorders to mixed ...... risk factor for both perinatal and young infant death, khat chewing during pregnancy may be one of the factors ...

  9. Sexual Attitude Reassessment for Psychiatric Patients.

    Science.gov (United States)

    Dincin, Jerry; Wise, Shirley

    1979-01-01

    Sexuality programs are one part of the program at Thresholds, a rehabilitation center for psychiatric patients (17 to 50 years old). A 16 week sexuality group includes seven phases: initial interview; beginning group development (health care, contraception, reproduction, sexuality); masturbation; intercourse; homosexuality; coed group discussion;…

  10. Psychiatric nurses' experiences with inpatient aggression

    NARCIS (Netherlands)

    Nijman, H.; Bowers, L.; Oud, N.; Jansen, G.

    2005-01-01

    Using a survey instrument, the experiences of psychiatric nurses with inpatient aggression were investigated in East London, U.K. On this "Perceptions of Prevalence Of Aggression Scale" (POPAS), annual experiences with 15 types of disruptive and aggressive behavior were rated anonymously. Staff

  11. Can Psychiatric Rehabilitation Be Core to CORE?

    Science.gov (United States)

    Olney, Marjorie F.; Gill, Kenneth J.

    2016-01-01

    Purpose: In this article, we seek to determine whether psychiatric rehabilitation principles and practices have been more fully incorporated into the Council on Rehabilitation Education (CORE) standards, the extent to which they are covered in four rehabilitation counseling "foundations" textbooks, and how they are reflected in the…

  12. PSYCHIATRIC MORBIDITY IN A NIGERIAN NEUROLOGY CLINIC

    African Journals Online (AJOL)

    2013-05-28

    May 28, 2013 ... medication effects and psychological reactions to the illness. Parkinson's disease (PD) is a good example of a disabling neurological disorder and it is now apparent that the underlying neurodegenerative disorder is a major cause of psychiatric disturbances even though the psychological reactions to the ...

  13. Psychiatric disorders and traumatic brain injury

    Directory of Open Access Journals (Sweden)

    Marcelo Schwarzbold

    2008-09-01

    Full Text Available Marcelo Schwarzbold1, Alexandre Diaz1, Evandro Tostes Martins2, Armanda Rufino1, Lúcia Nazareth Amante1,3, Maria Emília Thais1, João Quevedo4, Alexandre Hohl1, Marcelo Neves Linhares1,5,6, Roger Walz1,61Núcleo de Pesquisas em Neurologia Clínica e Experimental (NUPNEC, Departamento de Clínica Médica, Hospital Universitário, UFSC, Florianópolis, SC, Brazil; 2Unidade de Terapia Intensiva, Hospital Governador Celso Ramos, Florianópolis, SC, Brazil; 3Departamento de Enfermagem, UFSC, Florianópolis, SC, Brazil; 4Laboratório de Neurociências, UNESC, Criciúma, SC, Brazil; 5Departamento de Cirurgia, Hospital Universitário, UFSC, Florianópolis, SC, Brazil; 6Centro de Cirurgia de Epilepsia de Santa Catarina (CEPESC, Hospital Governador Celso Ramos, Florianópolis, SC, BrazilAbstract: Psychiatric disorders after traumatic brain injury (TBI are frequent. Researches in this area are important for the patients’ care and they may provide hints for the comprehension of primary psychiatric disorders. Here we approach epidemiology, diagnosis, associated factors and treatment of the main psychiatric disorders after TBI. Finally, the present situation of the knowledge in this field is discussed.Keywords: psychiatric disorders, traumatic brain injury, neuropsychiatry, diagnostic, epidemiology, pathophysiology

  14. The professional paradigm of qualified psychiatric nurses.

    Science.gov (United States)

    Lindström, U A

    1995-10-01

    The main purpose of this research was to determine the professional paradigm of the qualified psychiatric nurse and the factors influencing the formation of this paradigm. The research was both explorative and descriptive, and both qualitative and quantitative methods were used. The research approach was deductive and based on the theory of paradigm of Törnebohm. The test persons comprised three groups: Swedish-speaking Finns, Swedes and Finns. In each group there were eight students in the final stages of their psychiatric nursing training. A total of 40 questionnaires were distributed to each group. The research revealed four different characteristic types of qualified psychiatric nurses: caring science oriented, partly caring science oriented, general humanist and finally the personality- and experience-oriented. The results also indicate that there is a discrepancy between will and ability within caring. This can partly be interpreted as an expression of the discrepancy between philosophical and ideological impressions and real acts but it may partly indicate a lack of information. Many informants had difficulty naming a theoretical frame of reference for their work and stating aspects of psychiatric caring that would be important to know but on which no information so far exists. Many informants expressed the need for more research and development but did not indicate the subjects.

  15. 42 CFR 415.184 - Psychiatric services.

    Science.gov (United States)

    2010-10-01

    ... 42 Public Health 3 2010-10-01 2010-10-01 false Psychiatric services. 415.184 Section 415.184 Public Health CENTERS FOR MEDICARE & MEDICAID SERVICES, DEPARTMENT OF HEALTH AND HUMAN SERVICES... TEACHING SETTINGS, AND RESIDENTS IN CERTAIN SETTINGS Physician Services in Teaching Settings § 415.184...

  16. Prevalence and Correlates of Psychiatric Disorders among ...

    African Journals Online (AJOL)

    BACKGROUND: Research has established that psychiatric disorders are common among children and adolescents within the juvenile justice system. However, the bulk of these researches had been from the developed countries, with very limited data from sub-Sahara Africa. In a region like sub-Sahara Africa with acute ...

  17. Physician assisted death in psychiatric practice

    NARCIS (Netherlands)

    Groenewoud, J.H.; van der Maas, P.J.; van der Wal, G.; Hengeveld, M.W.; Tholen, A.J.; Schudel, W.J.; van der Heide, A.

    1997-01-01

    Background: In 1994 the Dutch Supreme Court ruled that in exceptional instances, physician-assisted suicide might be justifiable for patients with unbearable mental suffering but no physical illness. We studied physician- assisted suicide and euthanasia in psychiatric practice in the Netherlands.

  18. SPECIFIC PSYCHIATRIC MORBIDITY AMONG DIABETICS AT A ...

    African Journals Online (AJOL)

    hi-tech

    2000-01-01

    Jan 1, 2000 ... Background: In Nigeria, with a rising incidence of diabetes mellitus (DM), there are ... Objective: To assess the prevalence of specific psychiatric disorders and ..... Suleiman T.G., Ohaeri J.U., Lawal R.A., Haruna A.T. and Orija.

  19. Psychiatric and Societal Impacts of Terrorism

    National Research Council Canada - National Science Library

    Grieger, Thomas A

    2006-01-01

    ... is one consequence of terrorism. Even emotional and behavioral changes that do not reach the level of a diagnosable disorder may contribute significantly to the overall health burden resulting from terrorist attacks. Psychiatric disorders will occur in a relatively small percentage of the exposed population. The course of illness for those in whom suc...

  20. Substance use and violence among psychiatric inpatients.

    Science.gov (United States)

    Stewart, D; Bowers, L

    2015-03-01

    Nursing staff on psychiatric wards often attribute patient violence and aggression to substance use. This study examined incidents of alcohol and illicit drug use among acute psychiatric inpatients and associations between substance use and violence or other forms of aggression. A sample of 522 adult psychiatric inpatients was recruited from 84 acute psychiatric wards in England. Data were collected from nursing and medical records for the first 2 weeks of admission. Only a small proportion of the sample was reported to have used or been under the influence of alcohol (5%) or drugs (3%). There was no physical violence during a shift when a patient had used alcohol or drugs. Substance using patients were also no more likely than others to behave violently at any point during the study period. However, incidents of substance use were sometimes followed by verbal aggression. Beliefs that substance using patients are likely to be violent were not supported by this study, and could impact negatively on therapeutic relationships between nurses and this patient group. Future studies are needed to examine how staff intervene and interact with intoxicated patients. © 2014 John Wiley & Sons Ltd.