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Sample records for association study implicates

  1. Lessons and Implications from Genome-Wide Association Studies (GWAS Findings of Blood Cell Phenotypes

    Directory of Open Access Journals (Sweden)

    Nathalie Chami

    2014-01-01

    Full Text Available Genome-wide association studies (GWAS have identified reproducible genetic associations with hundreds of human diseases and traits. The vast majority of these associated single nucleotide polymorphisms (SNPs are non-coding, highlighting the challenge in moving from genetic findings to mechanistic and functional insights. Nevertheless, large-scale (epigenomic studies and bioinformatic analyses strongly suggest that GWAS hits are not randomly distributed in the genome but rather pinpoint specific biological pathways important for disease development or phenotypic variation. In this review, we focus on GWAS discoveries for the three main blood cell types: red blood cells, white blood cells and platelets. We summarize the knowledge gained from GWAS of these phenotypes and discuss their possible clinical implications for common (e.g., anemia and rare (e.g., myeloproliferative neoplasms human blood-related diseases. Finally, we argue that blood phenotypes are ideal to study the genetics of complex human traits because they are fully amenable to experimental testing.

  2. The estrogen hypothesis of Schizophrenia implicates glucose metabolism: Association study in three independent samples

    Directory of Open Access Journals (Sweden)

    Timm Sally

    2008-05-01

    Full Text Available Abstract Background Schizophrenia is a highly heritable complex psychiatric disorder with an underlying pathophysiology that is still not well understood. Metaanalyses of schizophrenia linkage studies indicate numerous but rather large disease-associated genomic regions, whereas accumulating gene- and protein expression studies have indicated an equally large set of candidate genes that only partially overlap linkage genes. A thorough assessment, beyond the resolution of current GWA studies, of the disease risk conferred by the numerous schizophrenia candidate genes is a daunting and presently not feasible task. We undertook these challenges by using an established clinical paradigm, the estrogen hypothesis of schizophrenia, as the criterion to select candidates among the numerous genes experimentally implicated in schizophrenia. Bioinformatic tools were used to build and priorities the signaling networks implicated by the candidate genes resulting from the estrogen selection. We identified ten candidate genes using this approach that are all active in glucose metabolism and particularly in the glycolysis. Thus, we tested the hypothesis that variants of the glycolytic genes are associated with schizophrenia or at least with gender-associated aspects of the illness. Results We genotyped 185 SNPs in three independent case-control samples of Scandinavian origin (a total of 765 patients and 1274 control subjects. Variants of the mitogen-activated protein kinase 14 gene (MAPK14 and the phosphoenolpyruvate carboxykinase 1 (PCK1 and fructose-1,6-biphosphatase (FBP1 were nominal significantly associated with schizophrenia, and several haplotypes within enolase 2 gene (ENO2 consist of the same SNP allele having elevated risk of schizophrenia. Importantly, we find no evidence of stratification due to nationality or gender. Conclusion Several gene variants in the Glycolysis were associated with schizophrenia in three independent samples. However, the

  3. The estrogen hypothesis of schizophrenia implicates glucose metabolism: association study in three independent samples

    DEFF Research Database (Denmark)

    Olsen, Line; Hansen, Thomas; Jakobsen, Klaus D.;

    2008-01-01

    feasible task. We undertook these challenges by using an established clinical paradigm, the estrogen hypothesis of schizophrenia, as the criterion to select candidates among the numerous genes experimentally implicated in schizophrenia. Bioinformatic tools were used to build and priorities the signaling...... networks implicated by the candidate genes resulting from the estrogen selection. We identified ten candidate genes using this approach that are all active in glucose metabolism and particularly in the glycolysis. Thus, we tested the hypothesis that variants of the glycolytic genes are associated with...

  4. 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

    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 ove

  5. 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 ...

  6. Glutamate Networks Implicate Cognitive Impairments in Schizophrenia: Genome-Wide Association Studies of 52 Cognitive Phenotypes

    OpenAIRE

    Ohi, Kazutaka; Hashimoto, Ryota; Ikeda, Masashi; Yamamori, Hidenaga; Yasuda, Yuka; Fujimoto, Michiko; Umeda-Yano, Satomi; Fukunaga, Masaki; Fujino, Haruo; Watanabe, Yoshiyuki; Iwase, Masao; Kazui, Hiroaki; Iwata, Nakao; Weinberger, Daniel R.; Takeda, Masatoshi

    2014-01-01

    Cognitive impairments are a core feature in patients with schizophrenia. These deficits could serve as effective tools for understanding the genetic architecture of schizophrenia. This study investigated whether genetic variants associated with cognitive impairments aggregate in functional gene networks related to the pathogenesis of schizophrenia. Here, genome-wide association studies (GWAS) of a range of cognitive phenotypes relevant to schizophrenia were performed in 411 healthy subjects. ...

  7. Evidence for increased recombination near the human insulin gene: implication for disease association studies

    Energy Technology Data Exchange (ETDEWEB)

    Chakravarti, A.; Elbein, S.C.; Permutt, M.A.

    1986-02-01

    Haplotypes for four new restriction site polymorphisms (detected by Rsa I, Taq I, HincII, and Sac I) and a previously identified DNA length polymorphism (5'FP), all at the insulin locus, have been studied in US Blacks, African Blacks, Caucasians, and Pima Indians. Black populations are polymorphic for all five markers, whereas the other groups are polymorphic for Rsa I, Taq I, and 5'FP only. The data suggest that approx. = 1 in 550 base pairs is variant in this region. The polymorphisms, even though located within 20 kilobases, display low levels of nonrandom association. Population genetic analysis suggests that recombination within this 20-kilobase segment occurs 24 times more frequently than expected if crossing-over occurred uniformly throughout the human genome. These findings suggest that population association between DNA polymorphisms and disease susceptibility genes near the insulin gene or structural mutations in the insulin gene will be weak. Thus, population studies would probably require large sample sizes to detect association. However, the low levels of nonrandom association increase the information content of the locus for linkage studies, which is the best alternative for discovering disease susceptibility genes.

  8. Genome-wide association studies in preterm birth: implications for the practicing obstetrician-gynaecologist

    Directory of Open Access Journals (Sweden)

    Dolan Siobhan M

    2013-01-01

    Full Text Available Abstract Preterm birth has the highest mortality and morbidity of all pregnancy complications. The burden of preterm birth on public health worldwide is enormous, yet there are few effective means to prevent a preterm delivery. To date, much of its etiology is unexplained, but genetic predisposition is thought to play a major role. In the upcoming year, the international Preterm Birth Genome Project (PGP consortium plans to publish a large genome wide association study in early preterm birth. Genome-wide association studies (GWAS are designed to identify common genetic variants that influence health and disease. Despite the many challenges that are involved, GWAS can be an important discovery tool, revealing genetic variations that are associated with preterm birth. It is highly unlikely that findings of a GWAS can be directly translated into clinical practice in the short run. Nonetheless, it will help us to better understand the etiology of preterm birth and the GWAS results will generate new hypotheses for further research, thus enhancing our understanding of preterm birth and informing prevention efforts in the long run.

  9. A genome-wide association study implicates the APOE locus in nonpathological cognitive ageing.

    Science.gov (United States)

    Davies, G; Harris, S E; Reynolds, C A; Payton, A; Knight, H M; Liewald, D C; Lopez, L M; Luciano, M; Gow, A J; Corley, J; Henderson, R; Murray, C; Pattie, A; Fox, H C; Redmond, P; Lutz, M W; Chiba-Falek, O; Linnertz, C; Saith, S; Haggarty, P; McNeill, G; Ke, X; Ollier, W; Horan, M; Roses, A D; Ponting, C P; Porteous, D J; Tenesa, A; Pickles, A; Starr, J M; Whalley, L J; Pedersen, N L; Pendleton, N; Visscher, P M; Deary, I J

    2014-01-01

    Cognitive decline is a feared aspect of growing old. It is a major contributor to lower quality of life and loss of independence in old age. We investigated the genetic contribution to individual differences in nonpathological cognitive ageing in five cohorts of older adults. We undertook a genome-wide association analysis using 549 692 single-nucleotide polymorphisms (SNPs) in 3511 unrelated adults in the Cognitive Ageing Genetics in England and Scotland (CAGES) project. These individuals have detailed longitudinal cognitive data from which phenotypes measuring each individual's cognitive changes were constructed. One SNP--rs2075650, located in TOMM40 (translocase of the outer mitochondrial membrane 40 homolog)--had a genome-wide significant association with cognitive ageing (P=2.5 × 10(-8)). This result was replicated in a meta-analysis of three independent Swedish cohorts (P=2.41 × 10(-6)). An Apolipoprotein E (APOE) haplotype (adjacent to TOMM40), previously associated with cognitive ageing, had a significant effect on cognitive ageing in the CAGES sample (P=2.18 × 10(-8); females, P=1.66 × 10(-11); males, P=0.01). Fine SNP mapping of the TOMM40/APOE region identified both APOE (rs429358; P=3.66 × 10(-11)) and TOMM40 (rs11556505; P=2.45 × 10(-8)) as loci that were associated with cognitive ageing. Imputation and conditional analyses in the discovery and replication cohorts strongly suggest that this effect is due to APOE (rs429358). Functional genomic analysis indicated that SNPs in the TOMM40/APOE region have a functional, regulatory non-protein-coding effect. The APOE region is significantly associated with nonpathological cognitive ageing. The identity and mechanism of one or multiple causal variants remain unclear. PMID:23207651

  10. Association study in Alzheimer’s disease of single nucleotide polymorphisms implicated with coffee consumption

    OpenAIRE

    Victor Junji Yamamoto; Vanessa de Jesus Rodrigues de Paula; Orestes Vicente Forlenza; Bernardo dos Santos; Daniel Shikanai Kerr

    2015-01-01

    Background There is evidence from animal and in vitro models of the protective effects of caffeine in Alzheimer’s disease. The suggested mechanisms through which caffeine may protect neurons against Alzheimer’s disease pathology include the facilitation of beta-amyloid clearance, upregulation of cholinergic transmission, and increased neuronal plasticity and survival. Epidemiological studies support that Alzheimer’s disease patients consume smaller amounts of coffee beverages throughout their...

  11. Gene-based meta-analysis of genome-wide association studies implicates new loci involved in obesity

    DEFF Research Database (Denmark)

    Hägg, Sara; Ganna, Andrea; Van Der Laan, Sander W; Esko, Tonu; Pers, Tune H; Locke, Adam E; Berndt, Sonja I; Justice, Anne E; Kahali, Bratati; Siemelink, Marten A; Pasterkamp, Gerard; Strachan, David P; Speliotes, Elizabeth K; North, Kari E; Loos, Ruth J F; Hirschhorn, Joel N; Pawitan, Yudi; Ingelsson, Erik

    2015-01-01

    ANthropometric Traits (GIANT) consortium. Each cohort was tested for association between ∼2.4 million (Stage 1) or ∼200 000 (Stage 2) imputed or genotyped single variants and BMI, and summary statistics were subsequently meta-analyzed in 17 941 genes. We used the 'VErsatile Gene-based Association Study' (VEGAS...

  12. A genome-wide association study of kynurenic acid in cerebrospinal fluid: implications for psychosis and cognitive impairment in bipolar disorder

    Science.gov (United States)

    Sellgren, CM; Kegel, ME; Bergen, SE; Ekman, CJ; Olsson, S; Larsson, M; Vawter, MP; Backlund, L; Sullivan, PF; Sklar, P; Smoller, JW; Magnusson, PKE; Hultman, CM; Walther-Jallow, L; Svensson, CI; Lichtenstein, P; Schalling, M; Engberg, G; Erhardt, S; Landén, M

    2016-01-01

    Elevated cerebrospinal fluid (CSF) levels of the glia-derived N-methyl-D-aspartic acid receptor antagonist kynurenic acid (KYNA) have consistently been implicated in schizophrenia and bipolar disorder. Here, we conducted a genome-wide association study based on CSF KYNA in bipolar disorder and found support for an association with a common variant within 1p21.3. After replication in an independent cohort, we linked this genetic variant—associated with reduced SNX7 expression—to positive psychotic symptoms and executive function deficits in bipolar disorder. A series of post-mortem brain tissue and in vitro experiments suggested SNX7 downregulation to result in a caspase-8-driven activation of interleukin-1β and a subsequent induction of the brain kynurenine pathway. The current study demonstrates the potential of using biomarkers in genetic studies of psychiatric disorders, and may help to identify novel drug targets in bipolar disorder. PMID:23459468

  13. Genome-wide association study knowledge-driven pathway analysis of alcohol dependence implicates the calcium signaling pathway

    Institute of Scientific and Technical Information of China (English)

    Li Danni; Li Jinming; Guo Yanfang

    2014-01-01

    Background Alcohol dependence (AD) is a serious and common public health problem.The identification of genes that contribute to the AD variation will improve our understanding of the genetic mechanism underlying this complex disease.Previous genome-wide association studies (GWAS) and candidate gene genetic association studies identified individual genes as candidates for alcohol phenotypes,but efforts to generate an integrated view of accumulative genetic variants and pathways under alcohol drinking are lacking.Methods We applied enrichment gene set analysis to existing genetic association results to identify pertinent pathways to AD in this study.A total of 1 438 SNPs (P <1.0×10-3) associated to alcohol drinking related traits have been collected from 31 studies (10 candidate gene association studies,19 GWAS of SNPs,and 2 GWAS of copy number variants).Results Among all of the KEGG pathways,the calcium signaling pathway (hsa04020) showed the most significant enrichment of associations (21 genes) to alcohol consumption phenotypes (P=5.4×10-5).Furthermore,the calcium signaling pathway is the only pathway that turned out to be significant after multiple test adjustments,achieving Bonferroni P value of 0.8×10-3 and FDR value of 0.6×10-2,respectively.Interestingly,the calcium signaling pathway was previously found to be essential to regulate brain function,and genes in this pathway link to a depressive effect of alcohol consumption on the body.Conclusions Our findings,together with previous biological evidence,suggest the importance of gene polymorphisms of calcium signaling pathway to AD susceptibility.Still,further investigations are warranted to uncover the role of this pathway in AD and related traits.

  14. Population structure and linkage disequilibrium in oat (Avena sativa L.): implications for genome-wide association studies

    Science.gov (United States)

    The level of population structure and the extent of linkage disequilibrium (LD) can have large impacts on the power, resolution, and design of genome-wide association studies (GWAS) in plants. Until recently, the topics of LD and population structure have not been explored in oat due to the lack of...

  15. Spatial and temporal associations of road traffic noise and air pollution in London: Implications for epidemiological studies.

    Science.gov (United States)

    Fecht, Daniela; Hansell, Anna L; Morley, David; Dajnak, David; Vienneau, Danielle; Beevers, Sean; Toledano, Mireille B; Kelly, Frank J; Anderson, H Ross; Gulliver, John

    2016-03-01

    Road traffic gives rise to noise and air pollution exposures, both of which are associated with adverse health effects especially for cardiovascular disease, but mechanisms may differ. Understanding the variability in correlations between these pollutants is essential to understand better their separate and joint effects on human health. We explored associations between modelled noise and air pollutants using different spatial units and area characteristics in London in 2003-2010. We modelled annual average exposures to road traffic noise (LAeq,24h, Lden, LAeq,16h, Lnight) for ~190,000 postcode centroids in London using the UK Calculation of Road Traffic Noise (CRTN) method. We used a dispersion model (KCLurban) to model nitrogen dioxide, nitrogen oxide, ozone, total and the traffic-only component of particulate matter ≤2.5μm and ≤10μm. We analysed noise and air pollution correlations at the postcode level (~50 people), postcodes stratified by London Boroughs (~240,000 people), neighbourhoods (Lower layer Super Output Areas) (~1600 people), 1km grid squares, air pollution tertiles, 50m, 100m and 200m in distance from major roads and by deprivation tertiles. Across all London postcodes, we observed overall moderate correlations between modelled noise and air pollution that were stable over time (Spearman's rho range: |0.34-0.55|). Correlations, however, varied considerably depending on the spatial unit: largest ranges were seen in neighbourhoods and 1km grid squares (both Spearman's rho range: |0.01-0.87|) and was less for Boroughs (Spearman's rho range: |0.21-0.78|). There was little difference in correlations between exposure tertiles, distance from road or deprivation tertiles. Associations between noise and air pollution at the relevant geographical unit of analysis need to be carefully considered in any epidemiological analysis, in particular in complex urban areas. Low correlations near roads, however, suggest that independent effects of road noise and

  16. Genome-Wide Association Study Reveals Genetic Architecture of Eating Behaviors in Pigs and its Implications for Humans Obesity by Comparative Genome Mapping

    DEFF Research Database (Denmark)

    Do, Duy Ngoc; Strathe, Anders Bjerring; Ostersen, Tage; Jensen, Just; Mark, Thomas; Kadarmideen, Haja

    2013-01-01

    This study was aimed at identifying genomic regions controlling feeding behaviors inDanish Duroc boars and its potential implications for eating behaviors in humans.Individual daily feed intake (DFI), total daily time spent in feeder (TPD), number of dailyvisits to feeder (NVD), time spent to eat...... < 5E-05) and 76 SNPs had suggestive (p < 5E-04)association with feeding behavior traits. Locus M1GA0016584 located close to theMSI2 gene on chromosome (SSC) 14 was very strongly associated with NVD (p =9.6E-07). Thirty six SNPs were located in genome regions where QTLs havepreviously been reported for...... behaviors and/or feed intake traits in pigs. The regions:64-65Mb on SSC 1, 124-130Mb on SSC 8, 63-68Mb on SSC 11, 32-39Mb and 59-60Mb on SSC 12 harbored several significant SNPs. Three and two haplotypes thatwere detected in significant regions on SSC1 and SSC12 affected DFI and NVD,respectively. Synapse...

  17. Huntington's disease: implications of associated cellular radiosensitivity

    International Nuclear Information System (INIS)

    Ionizing radiation sensitivity was studied in a series of Huntington's Disease (HD) patients and controls by measurement of radiation-induced chromosome aberrations in lymphocytes and by clonogenic survival of lymphoblastoid cell lines. As a group, HD patients were found to be significantly more radioisensitive than controls (p<0.001), but there was an overlap between values for the two groups such that an absolute distinction is not possible. These data are consistent with an association between HD and radiosensitivity but not with identity between HD and a radiosensitive phenotype, so that cellular radiosensitivity cannot be used for individual diagnosis. Analysis of three families including 5 HD patients and 11 first-degree relatives confirmed this conclusion and demonstrated that even within a given family presymptomatic diagnosis cannot be based on measurement of radiosensitivity. However, the common association of cellular radiosensitivity with HD probands and their families provides a potential lead to the identification of HD gene(s) and so to an eventual understanding of the aetiopathogenesis of this disease at the molecular level. (author)

  18. Architectural Implications for Spatial Object Association Algorithms

    Energy Technology Data Exchange (ETDEWEB)

    Kumar, V S; Kurc, T; Saltz, J; Abdulla, G; Kohn, S R; Matarazzo, C

    2009-01-29

    Spatial object association, also referred to as cross-match of spatial datasets, is the problem of identifying and comparing objects in two or more datasets based on their positions in a common spatial coordinate system. In this work, we evaluate two crossmatch algorithms that are used for astronomical sky surveys, on the following database system architecture configurations: (1) Netezza Performance Server R, a parallel database system with active disk style processing capabilities, (2) MySQL Cluster, a high-throughput network database system, and (3) a hybrid configuration consisting of a collection of independent database system instances with data replication support. Our evaluation provides insights about how architectural characteristics of these systems affect the performance of the spatial crossmatch algorithms. We conducted our study using real use-case scenarios borrowed from a large-scale astronomy application known as the Large Synoptic Survey Telescope (LSST).

  19. Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation

    DEFF Research Database (Denmark)

    Kato, Norihiro; Loh, Marie; Takeuchi, Fumihiko;

    2015-01-01

    We carried out a trans-ancestry genome-wide association and replication study of blood pressure phenotypes among up to 320,251 individuals of East Asian, European and South Asian ancestry. We find genetic variants at 12 new loci to be associated with blood pressure (P = 3.9 × 10(-11) to 5.0 × 10(...

  20. Economic Implication of Poverty Alleviation Programs on Rural Women in Ondo-State Case Study of Country Women Association of Nigeria

    Directory of Open Access Journals (Sweden)

    Fasoranti M. Modupe

    2008-01-01

    Full Text Available The study examined the economic implication of COWAN poverty alleviation programme in rural women. Multi-stage sampling technique was used to select 100 respondents from Ikare and Ugbe from Akoko North East and Oka and Akungba from Akoko South West. The data collected were analysed with the aid of descriptive statistics and simple regression analysis to examine the socio-economic characteristics of respondents and the efficiency of COWAN micro finance initiative. Results showed that 35% of respondents have no formal education while 30, 24 and 11% has primary school, secondary school and above secondary education respectively. The mean age reported was 39 years showing that the respondents were still in their economically active years. Result also showed that loans facilities from COWAN has positive influence on the level of income and the result of the return to scale analysis showed efficient utilization of the loans. It is therefore recommended that COWAN should be encouraged to give greater loans facilities to interested borrowers in the study area.

  1. Association of neighbourhood residence and preferences with the built environment, work-related travel behaviours, and health implications for employed adults: Findings from the URBAN study

    OpenAIRE

    Badland, Hannah M; Oliver, Melody; Kearns, Robin A.; Mavoa, Suzanne; Witten, Karen; Duncan, Mitch J.; Batty, G David

    2012-01-01

    Although the neighbourhoods and health field is well established, the relationships between neighbourhood selection, neighbourhood preference, work-related travel behaviours, and transport infrastructure have not been fully explored. It is likely that understanding these complex relationships more fully will inform urban policy development, and planning for neighbourhoods that support health behaviours. Accordingly, the objective of this study was to identify associations between these variab...

  2. Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation.

    Science.gov (United States)

    Kato, Norihiro; Loh, Marie; Takeuchi, Fumihiko; Verweij, Niek; Wang, Xu; Zhang, Weihua; Kelly, Tanika N; Saleheen, Danish; Lehne, Benjamin; Mateo Leach, Irene; Drong, Alexander W; Abbott, James; Wahl, Simone; Tan, Sian-Tsung; Scott, William R; Campanella, Gianluca; Chadeau-Hyam, Marc; Afzal, Uzma; Ahluwalia, Tarunveer S; Bonder, Marc Jan; Chen, Peng; Dehghan, Abbas; Edwards, Todd L; Esko, Tõnu; Go, Min Jin; Harris, Sarah E; Hartiala, Jaana; Kasela, Silva; Kasturiratne, Anuradhani; Khor, Chiea-Chuen; Kleber, Marcus E; Li, Huaixing; Mok, Zuan Yu; Nakatochi, Masahiro; Sapari, Nur Sabrina; Saxena, Richa; Stewart, Alexandre F R; Stolk, Lisette; Tabara, Yasuharu; Teh, Ai Ling; Wu, Ying; Wu, Jer-Yuarn; Zhang, Yi; Aits, Imke; Da Silva Couto Alves, Alexessander; Das, Shikta; Dorajoo, Rajkumar; Hopewell, Jemma C; Kim, Yun Kyoung; Koivula, Robert W; Luan, Jian'an; Lyytikäinen, Leo-Pekka; Nguyen, Quang N; Pereira, Mark A; Postmus, Iris; Raitakari, Olli T; Bryan, Molly Scannell; Scott, Robert A; Sorice, Rossella; Tragante, Vinicius; Traglia, Michela; White, Jon; Yamamoto, Ken; Zhang, Yonghong; Adair, Linda S; Ahmed, Alauddin; Akiyama, Koichi; Asif, Rasheed; Aung, Tin; Barroso, Inês; Bjonnes, Andrew; Braun, Timothy R; Cai, Hui; Chang, Li-Ching; Chen, Chien-Hsiun; Cheng, Ching-Yu; Chong, Yap-Seng; Collins, Rory; Courtney, Regina; Davies, Gail; Delgado, Graciela; Do, Loi D; Doevendans, Pieter A; Gansevoort, Ron T; Gao, Yu-Tang; Grammer, Tanja B; Grarup, Niels; Grewal, Jagvir; Gu, Dongfeng; Wander, Gurpreet S; Hartikainen, Anna-Liisa; Hazen, Stanley L; He, Jing; Heng, Chew-Kiat; Hixson, James E; Hofman, Albert; Hsu, Chris; Huang, Wei; Husemoen, Lise L N; Hwang, Joo-Yeon; Ichihara, Sahoko; Igase, Michiya; Isono, Masato; Justesen, Johanne M; Katsuya, Tomohiro; Kibriya, Muhammad G; Kim, Young Jin; Kishimoto, Miyako; Koh, Woon-Puay; Kohara, Katsuhiko; Kumari, Meena; Kwek, Kenneth; Lee, Nanette R; Lee, Jeannette; Liao, Jiemin; Lieb, Wolfgang; Liewald, David C M; Matsubara, Tatsuaki; Matsushita, Yumi; Meitinger, Thomas; Mihailov, Evelin; Milani, Lili; Mills, Rebecca; Mononen, Nina; Müller-Nurasyid, Martina; Nabika, Toru; Nakashima, Eitaro; Ng, Hong Kiat; Nikus, Kjell; Nutile, Teresa; Ohkubo, Takayoshi; Ohnaka, Keizo; Parish, Sarah; Paternoster, Lavinia; Peng, Hao; Peters, Annette; Pham, Son T; Pinidiyapathirage, Mohitha J; Rahman, Mahfuzar; Rakugi, Hiromi; Rolandsson, Olov; Rozario, Michelle Ann; Ruggiero, Daniela; Sala, Cinzia F; Sarju, Ralhan; Shimokawa, Kazuro; Snieder, Harold; Sparsø, Thomas; Spiering, Wilko; Starr, John M; Stott, David J; Stram, Daniel O; Sugiyama, Takao; Szymczak, Silke; Tang, W H Wilson; Tong, Lin; Trompet, Stella; Turjanmaa, Väinö; Ueshima, Hirotsugu; Uitterlinden, André G; Umemura, Satoshi; Vaarasmaki, Marja; van Dam, Rob M; van Gilst, Wiek H; van Veldhuisen, Dirk J; Viikari, Jorma S; Waldenberger, Melanie; Wang, Yiqin; Wang, Aili; Wilson, Rory; Wong, Tien-Yin; Xiang, Yong-Bing; Yamaguchi, Shuhei; Ye, Xingwang; Young, Robin D; Young, Terri L; Yuan, Jian-Min; Zhou, Xueya; Asselbergs, Folkert W; Ciullo, Marina; Clarke, Robert; Deloukas, Panos; Franke, Andre; Franks, Paul W; Franks, Steve; Friedlander, Yechiel; Gross, Myron D; Guo, Zhirong; Hansen, Torben; Jarvelin, Marjo-Riitta; Jørgensen, Torben; Jukema, J Wouter; Kähönen, Mika; Kajio, Hiroshi; Kivimaki, Mika; Lee, Jong-Young; Lehtimäki, Terho; Linneberg, Allan; Miki, Tetsuro; Pedersen, Oluf; Samani, Nilesh J; Sørensen, Thorkild I A; Takayanagi, Ryoichi; Toniolo, Daniela; Ahsan, Habibul; Allayee, Hooman; Chen, Yuan-Tsong; Danesh, John; Deary, Ian J; Franco, Oscar H; Franke, Lude; Heijman, Bastiaan T; Holbrook, Joanna D; Isaacs, Aaron; Kim, Bong-Jo; Lin, Xu; Liu, Jianjun; März, Winfried; Metspalu, Andres; Mohlke, Karen L; Sanghera, Dharambir K; Shu, Xiao-Ou; van Meurs, Joyce B J; Vithana, Eranga; Wickremasinghe, Ananda R; Wijmenga, Cisca; Wolffenbuttel, Bruce H W; Yokota, Mitsuhiro; Zheng, Wei; Zhu, Dingliang; Vineis, Paolo; Kyrtopoulos, Soterios A; Kleinjans, Jos C S; McCarthy, Mark I; Soong, Richie; Gieger, Christian; Scott, James; Teo, Yik-Ying; He, Jiang; Elliott, Paul; Tai, E Shyong; van der Harst, Pim; Kooner, Jaspal S; Chambers, John C

    2015-11-01

    We carried out a trans-ancestry genome-wide association and replication study of blood pressure phenotypes among up to 320,251 individuals of East Asian, European and South Asian ancestry. We find genetic variants at 12 new loci to be associated with blood pressure (P = 3.9 × 10(-11) to 5.0 × 10(-21)). The sentinel blood pressure SNPs are enriched for association with DNA methylation at multiple nearby CpG sites, suggesting that, at some of the loci identified, DNA methylation may lie on the regulatory pathway linking sequence variation to blood pressure. The sentinel SNPs at the 12 new loci point to genes involved in vascular smooth muscle (IGFBP3, KCNK3, PDE3A and PRDM6) and renal (ARHGAP24, OSR1, SLC22A7 and TBX2) function. The new and known genetic variants predict increased left ventricular mass, circulating levels of NT-proBNP, and cardiovascular and all-cause mortality (P = 0.04 to 8.6 × 10(-6)). Our results provide new evidence for the role of DNA methylation in blood pressure regulation. PMID:26390057

  3. Th17 response and autophagy - main pathways implicated in the development of inflammatory bowel disease by genome-wide association studies: new factors involved in inflammatory bowel disease susceptibility

    Directory of Open Access Journals (Sweden)

    Roberto Díaz-Peña

    2015-09-01

    Full Text Available Inflammatory bowel disease (IBD is an entity that mainly includes ulcerative colitis (UC and Crohn's disease (CD. Improved health care, diet changes, and higher industrialization are associated with an increase in IBD prevalence. This supports the central role of environmental factors in the pathology of this disease. However, IBD also shows a relevant genetic component as shown by high heritability. Classic genetic studies showed relevant associations between IBD susceptibility and genes involved in the immune response. This is consistent with prior theories about IBD development. According to these, contact of the immune system with a high number of harmless antigens from the diet and the bacterial flora should originate tolerance while preserving response against pathogens. Failure to achieve this balance may originate the typical inflammatory response associated with IBD. Recently, genome-wide association studies (GWASs have confirmed the implication of the immune system, particularly the Th17 immune response, previously associated to other autoimmune diseases, and of autophagy. In this paper, the mechanisms involved in these two relevant pathways and their potential role in the pathogenesis of IBD are reviewed.

  4. MHC microsatellite diversity and linkage disequilibrium among common HLA-A, HLA-B, DRB1 haplotypes: implications for unrelated donor hematopoietic transplantation and disease association studies.

    Science.gov (United States)

    Malkki, M; Single, R; Carrington, M; Thomson, G; Petersdorf, E

    2005-08-01

    Twenty-two human major histocompatibility complex (MHC) region microsatellite (Msat) markers were studied for diversity and linkage disequilibrium (LD) with HLA loci in hematopoietic cell transplant recipients and their HLA-A, HLA-B, HLA-C, HLA-DRB1, and HLA-DQB1 allele-matched unrelated donors. These Msats showed highly significant LD over much of the MHC region. The Msat diversity of five common Caucasian haplotypes (HLA-A1-B8-DR3, A3-B7-DR15, A2-B44-DR4, A29-B44-DR7, and A2-B7-DR15) was examined using a new measure called 'haplotype specific heterozygosity' (HSH). Each of the five haplotypes had at least one Msat marker with an HSH value of zero indicating that only one Msat allele was observed for the particular HLA haplotype. In addition, the ability of Msats to predict HLA-A-B-DRB1 haplotypes was studied. Over 90% prediction probability of two common haplotypes (HLA-A1-B8-DR3 and HLA-A3-B7-DR15) was achieved with information from three Msats (D6S265/D6S2787/D6S2894 and D6S510/D6S2810/D6S2876, respectively). We demonstrate how the HSH index can be used in the selection of informative Msats for transplantation and disease association studies. Markers with low HSH values can be used to predict specific HLA haplotypes or multilocus genotypes to supplement the screening of HLA-matched donors for transplantation. Markers with high HSH values will be most informative in studies investigating MHC region disease-susceptibility genes where HLA haplotypic effects are known to exist. PMID:16029431

  5. Mobility behavior and environmental implications of trace elements associated with coal gangue: a case study at the Huainan Coalfield in China.

    Science.gov (United States)

    Chuncai, Zhou; Guijian, Liu; Dun, Wu; Ting, Fang; Ruwei, Wang; Xiang, Fan

    2014-01-01

    The potential environmental hazards posed by trace elements have assumed serious proportions due to their toxicity, bioavailability and geochemical behavior. The toxicity and mobility of trace elements in coal gangue is dependent on the elements' chemical properties, therefore, the quantification of the different forms of trace elements is more significant than the estimation of their total concentrations. In this study, the mobility behavior of trace elements in coal gangue from the Huainan Coalfield was studied to evaluate the potential eco-toxicity of the trace elements. Sequential extraction was employed to analyze the fractionation behavior of trace elements in coal gangue. The selected trace elements (As, Co, Cr, Cu, Mn, Ni, Se, Sn, V and Zn) are predominantly found in silicate-bound, sulfide-bound and carbonate-bound fractions. The correlation of the element concentration with ash yield, aluminum, calcium and iron-sulfur indicates that As, Co, Cu, Ni, Se and Zn in coal gangue are mainly associated with sulfide minerals, which could release from coal gangue easily and can disperse into the environment as a result of long-term natural weathering. The Risk Assessment Code reveals that the trace elements (Mn, Cr, Se, Ni, Zn, As and Cu) can pose serious environmental risks to the ecosystem. The fractionation profiles of other elements (Co, Sn and V) indicate no risk or low risk to the environment. PMID:24050719

  6. Pedagogical Implications of Contrastive Studies

    Science.gov (United States)

    Marton, Waldemar

    1972-01-01

    Pessimism regarding pedagogical applications of contrastive studies, and reasons therefore, are described. Several misunderstandings believed to contribute to this pessimism, and several areas of controversy concerning uses of contrastive studies, are discussed. See FL 508 197 for availability. (RM)

  7. Comprehensive gene-based association study of a chromosome 20 linked region implicates novel risk loci for depressive symptoms in psychotic illness.

    Directory of Open Access Journals (Sweden)

    T Bernard Bigdeli

    Full Text Available BACKGROUND: Prior genomewide scans of schizophrenia support evidence of linkage to regions of chromosome 20. However, association analyses have yet to provide support for any etiologically relevant variants. METHODS: We analyzed 2988 LD-tagging single nucleotide polymorphisms (SNPs in 327 genes on chromosome 20, to test for association with schizophrenia in 270 Irish high-density families (ISHDSF, N = 270 families, 1408 subjects. These SNPs were genotyped using an Illumina iSelect genotyping array which employs the Infinium assay. Given a previous report of novel linkage with chromosome 20p using latent classes of psychotic illness in this sample, association analysis was also conducted for each of five factor-derived scores based on the Operational Criteria Checklist for Psychotic Illness (delusions, hallucinations, mania, depression, and negative symptoms. Tests of association were conducted using the PDTPHASE and QPDTPHASE packages of UNPHASED. Empirical estimates of gene-wise significance were obtained by adaptive permutation of a the smallest observed P-value and b the threshold-truncated product of P-values for each locus. RESULTS: While no single variant was significant after LD-corrected Bonferroni-correction, our gene-dropping analyses identified loci which exceeded empirical significance criteria for both gene-based tests. Namely, R3HDML and C20orf39 are significantly associated with depressive symptoms of schizophrenia (P(emp<2×10⁻⁵ based on the minimum P-value and truncated-product methods, respectively. CONCLUSIONS: Using a gene-based approach to family-based association, R3HDML and C20orf39 were found to be significantly associated with clinical dimensions of schizophrenia. These findings demonstrate the efficacy of gene-based analysis and support previous evidence that chromosome 20 may harbor schizophrenia susceptibility or modifier loci.

  8. [Forensic Implications of Sleep-Associated Behavior Disorders].

    Science.gov (United States)

    Bumb, J M; Schredl, M; Dreßing, H

    2015-11-01

    Parasomnias represent a category of disorders that involve complex behaviors or emotional experiences, arising from or occurring during sleep, which might be also associated with (incomplete) awakening. These phenomena are classified as REM- or Non-REM-parasomnias. In particular the latter, including confusional arousal, sleepwalking and sleep terrors but also REM-sleep behavior disorder might result in criminal consequences. Using polysomnography, the pathophysiological mechanisms of these disorders have been investigated thoroughly. Nevertheless, in German literature, forensic implications of complex behaviors arising from sleep disorders have only been described insufficiently. Here we describe the most relevant parasomnias and also how to proceed in the context of forensic assessments. PMID:26633841

  9. Genome-wide association study reveals genetic architecture of eating behavior in pigs and its implications for humans obesity by comparative mapping

    DEFF Research Database (Denmark)

    Do, Duy Ngoc; Strathe, Anders Bjerring; Ostersen, Tage; Jensen, Just; Mark, Thomas; Kadarmideen, Haja

    2013-01-01

    1, PTPN4, MTMR4 and RNGTT) and positive regulation of peptide secretion genes (GHRH, NNAT and TCF7L2) were highly significantly associated with feeding behavior traits. This is the first GWAS to identify genetic variants and biological mechanisms for eating behavior in pigs and these results are...

  10. Immune activation in HIV-infected aging women on antiretrovirals--implications for age-associated comorbidities: a cross-sectional pilot study.

    Directory of Open Access Journals (Sweden)

    Maria L Alcaide

    Full Text Available Persistent immune activation and microbial translocation associated with HIV infection likely place HIV-infected aging women at high risk of developing chronic age-related diseases. We investigated immune activation and microbial translocation in HIV-infected aging women in the post-menopausal ages.Twenty-seven post-menopausal women with HIV infection receiving antiretroviral treatment with documented viral suppression and 15 HIV-negative age-matched controls were enrolled. Levels of immune activation markers (T cell immune phenotype, sCD25, sCD14, sCD163, microbial translocation (LPS and biomarkers of cardiovascular disease and impaired cognitive function (sVCAM-1, sICAM-1 and CXCL10 were evaluated.T cell activation and exhaustion, monocyte/macrophage activation, and microbial translocation were significantly higher in HIV-infected women when compared to uninfected controls. Microbial translocation correlated with T cell and monocyte/macrophage activation. Biomarkers of cardiovascular disease and impaired cognition were elevated in women with HIV infection and correlated with immune activation.HIV-infected antiretroviral-treated aging women who achieved viral suppression are in a generalized status of immune activation and therefore are at an increased risk of age-associated end-organ diseases compared to uninfected age-matched controls.

  11. Associations of sleep disturbance with ADHD: implications for treatment

    OpenAIRE

    Hvolby, Allan

    2014-01-01

    Attention-deficit/hyperactivity disorder (ADHD) is commonly associated with disordered or disturbed sleep. The relationships of ADHD with sleep problems, psychiatric comorbidities and medications are complex and multidirectional. Evidence from published studies comparing sleep in individuals with ADHD with typically developing controls is most concordant for associations of ADHD with: hypopnea/apnea and peripheral limb movements in sleep or nocturnal motricity in polysomnographic studies; inc...

  12. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappa B signalling

    NARCIS (Netherlands)

    Trynka, G.; Zhernakova, A.; Romanos, J.; Franke, L.; Hunt, K. A.; Turner, G.; Bruinenberg, M.; Heap, G. A.; Platteel, M.; Ryan, A. W.; de Kovel, C.; Holmes, G. K. T.; Howdle, P. D.; Walters, J. R. F.; Sanders, D. S.; Mulder, C. J. J.; Mearin, M. L.; Verbeek, W. H. M.; Trimble, V.; Stevens, F. M.; Kelleher, D.; Barisani, D.; Bardella, M. T.; McManus, R.; van Heel, D. A.; Wijmenga, C.

    2009-01-01

    Objective: Our previous coeliac disease genome-wide association study (GWAS) implicated risk variants in the human leucocyte antigen (HLA) region and eight novel risk regions. To identify more coeliac disease loci, we selected 458 single nucleotide polymorphisms (SNPs) that showed more modest associ

  13. Associations of sleep disturbance with ADHD: implications for treatment.

    Science.gov (United States)

    Hvolby, Allan

    2015-03-01

    Attention-deficit/hyperactivity disorder (ADHD) is commonly associated with disordered or disturbed sleep. The relationships of ADHD with sleep problems, psychiatric comorbidities and medications are complex and multidirectional. Evidence from published studies comparing sleep in individuals with ADHD with typically developing controls is most concordant for associations of ADHD with: hypopnea/apnea and peripheral limb movements in sleep or nocturnal motricity in polysomnographic studies; increased sleep onset latency and shorter sleep time in actigraphic studies; and bedtime resistance, difficulty with morning awakenings, sleep onset difficulties, sleep-disordered breathing, night awakenings and daytime sleepiness in subjective studies. ADHD is also frequently coincident with sleep disorders (obstructive sleep apnea, peripheral limb movement disorder, restless legs syndrome and circadian-rhythm sleep disorders). Psychostimulant medications are associated with disrupted or disturbed sleep, but also 'paradoxically' calm some patients with ADHD for sleep by alleviating their symptoms. Long-acting formulations may have insufficient duration of action, leading to symptom rebound at bedtime. Current guidelines recommend assessment of sleep disturbance during evaluation of ADHD, and before initiation of pharmacotherapy, with healthy sleep practices the first-line option for addressing sleep problems. This review aims to provide a comprehensive overview of the relationships between ADHD and sleep, and presents a conceptual model of the modes of interaction: ADHD may cause sleep problems as an intrinsic feature of the disorder; sleep problems may cause or mimic ADHD; ADHD and sleep problems may interact, with reciprocal causation and possible involvement of comorbidity; and ADHD and sleep problems may share a common underlying neurological etiology. PMID:25127644

  14. Food Avoidance and Food Modification Practices of Older Rural Adults: Association with Oral Health Status and Implications for Service Provision

    Science.gov (United States)

    Quandt, Sara A.; Chen, Haiying; Bell, Ronny A.; Savoca, Margaret R.; Anderson, Andrea M.; Leng, Xiaoyan; Kohrman, Teresa; Gilbert, Gregg H.; Arcury, Thomas A.

    2010-01-01

    Purpose: Dietary variation is important for health maintenance and disease prevention among older adults. However, oral health deficits impair ability to bite and chew foods. This study examines the association between oral health and foods avoided or modified in a multiethnic rural population of older adults. It considers implications for…

  15. Persistent primitive hypoglossal artery associated with Chiari II malformation: Diagnosis and clinical implications

    International Nuclear Information System (INIS)

    We present a case of persistent primitive hypoglossal artery (PPHA) associated with Chiari II malformation and discuss the clinical implications. There has been one reported case of PPHA associated with Chiari 1 malformation, but none in association with Chiari II. Our patient also had a widened hypoglossal canal, with cerebrospinal fluid (CSF) sac herniation through it

  16. Cluster formation in liverwort-associated methylobacteria and its implications

    Science.gov (United States)

    Kutschera, U.; Thomas, J.; Hornschuh, M.

    2007-08-01

    Pink-pigmented methylotropic bacteria of the genus Methylobacterium inhabit the surfaces of plant organs. In bryophytes, these methylobacteria enhance cell growth, but the nature of this plant-microbe interaction is largely unknown. In this study, methylobacteria were isolated from the upper surface of the free-living thalli of the liverwort Marchantia polymorpha L. Identification of one strain by 16S ribosomal RNA (rRNA) gene-targeted polymerase chain reaction (PCR) and other data show that these microbes represent an undescribed species of the genus Methylobacterium ( Methylobacterium sp.). The growth-promoting activity of these wild-type methylobacteria was tested and compared with that of the type strain Methylobacterium mesophilicum. Both types of methylobacteria stimulated surface expansion of isolated gemmae from Marchantia polymorpha by about 350%. When suspended in water, the liverwort-associated bacteria ( Methylobacterium sp.) formed dense clusters of up to 600 cells. In liquid cultures of Methylobacterium mesophilicum, single cells were observed, but no clustering occurred. We suggest that the liverwort-associated methylobacteria are co-evolved symbionts of the plants: Cluster formation may be a behavior that enhances the survival of the epiphytic microbes during periods of drought of these desiccation-tolerant lower plants.

  17. Genome-wide association study identifies four loci associated with eruption of permanent teeth

    DEFF Research Database (Denmark)

    Geller, Frank; Feenstra, Bjarke; Zhang, Hao;

    2011-01-01

    The sequence and timing of permanent tooth eruption is thought to be highly heritable and can have important implications for the risk of malocclusion, crowding, and periodontal disease. We conducted a genome-wide association study of number of permanent teeth erupted between age 6 and 14 years...

  18. Empirical studies of software design: Implications for SSEs

    Science.gov (United States)

    Krasner, Herb

    1988-01-01

    Implications for Software Engineering Environments (SEEs) are presented in viewgraph format for characteristics of projects studied; significant problems and crucial problem areas in software design for large systems; layered behavioral model of software processes; implications of field study results; software project as an ecological system; results of the LIFT study; information model of design exploration; software design strategies; results of the team design study; and a list of publications.

  19. Mutations in presenilin 2 and its implications in Alzheimer's disease and other dementia-associated disorders.

    Science.gov (United States)

    Cai, Yan; An, Seong Soo A; Kim, SangYun

    2015-01-01

    Alzheimer's disease (AD) is the most common form of dementia. Mutations in the genes encoding presenilin 1 (PSEN1), presenilin 2 (PSEN2), and amyloid precursor protein have been identified as the main genetic causes of familial AD. To date, more than 200 mutations have been described worldwide in PSEN1, which is highly homologous with PSEN2, while mutations in PSEN2 have been rarely reported. We performed a systematic review of studies describing the mutations identified in PSEN2. Most PSEN2 mutations were detected in European and in African populations. Only two were found in Korean populations. Interestingly, PSEN2 mutations appeared not only in AD patients but also in patients with other disorders, including frontotemporal dementia, dementia with Lewy bodies, breast cancer, dilated cardiomyopathy, and Parkinson's disease with dementia. Here, we have summarized the PSEN2 mutations and the potential implications of these mutations in dementia-associated disorders. PMID:26203236

  20. HLA-B27 Positivity: associated health implications

    OpenAIRE

    Cox, C. L.; Gibbons, H.; Evans, P; Withers, T.; Titmus, K.

    2011-01-01

    HLA-B27 positivity makes the onset of autoimmune diseases such as uveitis, ankylosing spondylitis and Crohn's disease more likely to occur. Ankylosing spondylitis and Crohn's disease are two types of HLA-B27 positive diseases that demonstrate a direct association with uveitis. Although the possession of HLA-B27 positivity is not mandatory for autoimmune diseases such as uveitis to occur, HLA-B27 positivity not only makes it more likely but may modify the clinical picture in which a patient pr...

  1. Food Avoidance and Food Modification Practices of Older Rural Adults: Association With Oral Health Status and Implications for Service Provision

    OpenAIRE

    Quandt, Sara A.; Chen, Haiying; Bell, Ronny A; Savoca, Margaret R.; Anderson, Andrea M.; Leng, Xiaoyan; Kohrman, Teresa; Gilbert, Gregg H.; Arcury, Thomas A

    2009-01-01

    Purpose: Dietary variation is important for health maintenance and disease prevention among older adults. However, oral health deficits impair ability to bite and chew foods. This study examines the association between oral health and foods avoided or modified in a multiethnic rural population of older adults. It considers implications for nutrition and medical service provision to this population. Design and Methods: In-home interviews and oral examinations were conducted with 635 adults in ...

  2. SYSTEMIC INFLAMMATION IMPAIRS ATTENTION AND COGNITIVE FLEXIBILITY BUT NOT ASSOCIATIVE LEARNING IN AGED RATS: Possible Implications for Delirium

    OpenAIRE

    Culley, Deborah J.; Mary eSnayd; Baxter, Mark G.; Zhongcong eXie; In-Ho eLee; James eRudolph; Sharon eInouye; Edward eMarcantonio; Gregory eCrosby

    2014-01-01

    Delirium is a common and morbid condition in elderly hospitalized patients. Its pathophysiology is poorly understood but inflammation has been implicated based on a clinical association with systemic infection and surgery and preclinical data showing that systemic inflammation adversely affects hippocampus-dependent memory. However, clinical manifestations and imaging studies point to abnormalities not in the hippocampus but in cortical circuits. We therefore tested the hypothesis that system...

  3. Systemic Inflammation Impairs Attention and Cognitive Flexibility but Not Associative Learning in Aged Rats: Possible Implications for Delirium

    OpenAIRE

    Culley, Deborah J.; Snayd, Mary; Baxter, Mark G.; Xie, Zhongcong; Lee, In Ho; Rudolph, James; Inouye, Sharon K.; Marcantonio, Edward R.; Crosby, Gregory

    2014-01-01

    Delirium is a common and morbid condition in elderly hospitalized patients. Its pathophysiology is poorly understood but inflammation has been implicated based on a clinical association with systemic infection and surgery and preclinical data showing that systemic inflammation adversely affects hippocampus-dependent memory. However, clinical manifestations and imaging studies point to abnormalities not in the hippocampus but in cortical circuits. We therefore tested the hypothesis that system...

  4. Chromosomal Aberrations Associated with Clonal Evolution and Leukemic Transformation in Fanconi Anemia: Clinical and Biological Implications

    OpenAIRE

    Stefan Meyer; Heidemarie Neitzel; Holger Tönnies

    2012-01-01

    Fanconi anaemia (FA) is an inherited disease with congenital and developmental abnormalities, bone marrow failure, and extreme risk of leukemic transformation. Bone marrow surveillance is an important part of the clinical management of FA and often reveals cytogenetic aberrations. Here, we review bone marrow findings in FA and discuss the clinical and biological implications of chromosomal aberrations associated with leukemic transformation.

  5. Geochemical Implications of CO2 Leakage Associated with Geologic Storage: A Review

    Energy Technology Data Exchange (ETDEWEB)

    Harvey, Omar R.; Qafoku, Nikolla; Cantrell, Kirk J.; Brown, Christopher F.

    2012-07-09

    Leakage from deep storage reservoirs is a major risk factor associated with geologic sequestration of carbon dioxide (CO2). Different scientific theories exist concerning the potential implications of such leakage for near-surface environments. The authors of this report reviewed the current literature on how CO2 leakage (from storage reservoirs) would likely impact the geochemistry of near surface environments such as potable water aquifers and the vadose zone. Experimental and modeling studies highlighted the potential for both beneficial (e.g., CO2 re sequestration or contaminant immobilization) and deleterious (e.g., contaminant mobilization) consequences of CO2 intrusion in these systems. Current knowledge gaps, including the role of CO2-induced changes in redox conditions, the influence of CO2 influx rate, gas composition, organic matter content and microorganisms are discussed in terms of their potential influence on pertinent geochemical processes and the potential for beneficial or deleterious outcomes. Geochemical modeling was used to systematically highlight why closing these knowledge gaps are pivotal. A framework for studying and assessing consequences associated with each factor is also presented in Section 5.6.

  6. Diabetes and cancer: Associations, mechanisms, and implications for medical practice

    OpenAIRE

    Xu, Chun-Xiao; Zhu, Hong-Hong; Zhu, Yi-Min

    2014-01-01

    Both diabetes mellitus and cancer are prevalent diseases worldwide. It is evident that there is a substantial increase in cancer incidence in diabetic patients. Epidemiologic studies have indicated that diabetic patients are at significantly higher risk of common cancers including pancreatic, liver, breast, colorectal, urinary tract, gastric and female reproductive cancers. Mortality due to cancer is moderately increased among patients with diabetes compared with those without. There is incre...

  7. Student Identity Considerations and Implications Associated with Socioscientific Issues Instruction

    Science.gov (United States)

    Ruzek, Mitchel James

    The purpose of this investigation was to explore how aspects of identity, perceived levels of controversy, and the strength of a student's attachment to their controversial identity relate to conceptual understanding and knowledge acquisition during socioscientific issues (SSI) based instruction in a biology classroom. The knowledge gained from this study will have the capacity to enhance our understanding of the role that attachment to identity plays during SSI negotiation. Additionally, insight was gained into the role played by aspects of identity in conceptual understanding of scientifically controversial topics during SSI based instruction. This study contributed to the existing knowledge base in science education by illuminating processes involved in socioscientific issue navigation among students of differing perceptions of controversy as well as students who held aspects of controversial identity that may or may not interact with the specific issues chosen. Students demonstrated evidence of variations of reasoning, justification, perception of controversy, and aspects of knowledge gain as they negotiated the issues of marijuana safety and fast food legality. Additionally, evidence was provided that showed general knowledge gain throughout the group during socioscientific issues instruction. It has been said that one of the appeals of the SSI instructional model is that is serves not only as a context for the delivery of content, but acts as a catalyst for various forms of epistemological beliefs and research into the development of conceptual and psychological knowledge structures (Zeidler, 2013). This investigation supports the deeper understanding of the contribution of controversy perception to epistemology as well as conceptual and psychological knowledge structures during SSI navigation.

  8. Association studies in consanguineous populations

    Energy Technology Data Exchange (ETDEWEB)

    Genin, E.; Clerget-Darpous, F. [Institut National d`Etudes Demographiques, Paris (France)

    1996-04-01

    To study the genetic determinism of multifactorial diseases in large panmictic populations, a strategy consists in looking for an association with markers closely linked to candidate genes. A distribution of marker genotypes different in patients and controls may indicate that the candidate gene is involved in the disease. In panmictic populations, the power to detect the role of a candidate gene depends on the gametic disequilibrium with the marker locus. In consanguineous populations, we show that it depends on the inbreeding coefficient F as well. Inbreeding increases the power to detect the role of a recessive or quasi-recessive disease-susceptibility factor. The gain in power turns out to be greater for small values of the gametic disequilibrium. Moreover, even in the absence of gametic disequilibrium, the presence of inbreeding may allow to detect the role of a recessive factor. Ignoring inbreeding when it exists may lead to reject falsely a recessive model if the mode of inheritance is inferred on the distribution of genotypes among patients. 5 refs., 6 figs., 1 tab.

  9. The Religious Implications of an Historical Approach to Jewish Studies.

    Science.gov (United States)

    Furst, Rachel

    This project examines the religious implications of an approach to "limmudei kodesh" (primarily the study of Talmud) and "halakhah" (an integration of academic scholarship with traditional Torah study and the evaluation of the educational pros and cons of a curriculum built on such a synthesis). In the concerted effort over the past century to…

  10. Associations between Gun Violence Exposure, Gang Associations, and Youth Aggression: Implications for Prevention and Intervention Programs

    Directory of Open Access Journals (Sweden)

    Myriam Forster

    2015-01-01

    Full Text Available Using cross-sectional data collected from three middle schools in Southeast Los Angeles, we assessed the association of neighborhood violence exposure, gang associations, and social self-control with past week aggression in a sample of minority youth (n=164. Results from Poisson and logistic regression models showed that direct exposure to gun violence, having friends in gangs, and low social self control were all positively associated with past week aggression. Among girls, having gang affiliated family members was positively associated with aggression, whereas among boys having friends in gangs was associated with past week aggression. Subjective expectations of engagement in future interpersonal violence were associated with being male, having friends in gangs, and fear of neighborhood gun violence. We recommend that youth violence prevention and intervention programs address the impact of family, peers, and gun violence on student coping and identify students with low social self-control who could benefit from social and emotional skills training.

  11. Special Education Faculty Needs Assessment Study Implications

    Science.gov (United States)

    Smith, D.D.; Tyler, N.; Montrosse, B.E.; Young, C.; Robb, S.M.

    2011-01-01

    This paper presents the highlights of the Special Education Faculty Needs Assessment Study (SEFNA). Actions taken after the release of The 2001 Faculty Shortage Study demonstrate that supply-and-demand imbalances can be improved. The projected shortage of special education faculty will directly and negatively affect students with disabilities and…

  12. Associations between Gun Violence Exposure, Gang Associations, and Youth Aggression: Implications for Prevention and Intervention Programs

    OpenAIRE

    Myriam Forster; Grigsby, Timothy J.; Unger, Jennifer B.; Steve Sussman

    2015-01-01

    Using cross-sectional data collected from three middle schools in Southeast Los Angeles, we assessed the association of neighborhood violence exposure, gang associations, and social self-control with past week aggression in a sample of minority youth (n=164). Results from Poisson and logistic regression models showed that direct exposure to gun violence, having friends in gangs, and low social self control were all positively associated with past week aggression. Among girls, having gang affi...

  13. Implications for cancer epidemiology of differences in dietary intake associated with alcohol consumption.

    Science.gov (United States)

    Hebert, J R; Kabat, G C

    1991-01-01

    Several dietary factors are thought to modify risk for cancers that are known to be associated with alcohol intake. In this study, we sought to identify and describe alcohol-related differences in dietary and nutritional factors that are potential independent predictors of cancer risk or effect modifiers or confounders of alcohol-cancer relationships. Data were obtained from a large hospital-based case-control study that was designed to estimate the cancer risk from various tobacco products. Study subjects consisted of 465 male and 300 female incident lung cancer cases and 870 male and 556 female hospitalized patient controls matched on age (+/- 5 yrs). Nutritional data were analyzed as log-transformed frequencies of 30 food items, 9 factor scores generated to describe overall patterns of dietary intake, and nutrient scores estimating daily intake of fat, vitamin A, fiber, and cholesterol. We observed many more significant differences in nutritional exposures by alcoholic beverage intake than would be expected merely by chance. For males, the most striking relationships included increased meat and egg consumption with increasing alcohol consumption and higher intake of cantaloupe and cold cereal among lighter drinkers. For females, we observed strong inverse relationships between alcohol consumption and reported intake of fruit, cold cereal, and ice cream. We also observed a direct association between alcohol and meat consumption, though it was weaker than that found among men. Findings based on factors and nutrients followed the pattern observed for the individual food items, with highest fat scores and lowest fruit scores among the heaviest drinkers. Implications for nutrient-alcohol interactions and statistical considerations are discussed. PMID:2038565

  14. Discursive Study of Religion : Approaches, Definitions, Implications

    NARCIS (Netherlands)

    von Stuckrad, Kocku

    2013-01-01

    The article explores recent approaches to historical analysis of discourse that have been developed in disciplines such as the sociology of knowledge and historical epistemology. These approaches have only sporadically been taken seriously in the academic study of religion, although they have a grea

  15. The role of TNF inhibitors in psoriasis therapy: new implications for associated comorbidities

    OpenAIRE

    Yost, John; Gudjonsson, Johann E.

    2009-01-01

    Over the past several years, tumor necrosis factor (TNF) antagonists have become first-line agents in the treatment of moderate-to-severe psoriasis. These medications are highly effective in treating both psoriasis and psoriatic arthritis and may also reduce the risk of cardiovascular events in patients with chronic inflammatory disorders. In this article we review the use of anti-TNF therapy in psoriasis and its implications in regards to the co-morbid conditions associated with psoriasis.

  16. Genome-wide association study identifies five new schizophrenia loci

    OpenAIRE

    Ripke, Stephan; Sanders, Alan R.; Kendler, Kenneth S.; Levinson, Douglas F.; Sklar, Pamela; Holmans, Peter A.; Lin, Dan-Yu; Duan, Jubao; Ophoff, Roel A.; Andreassen, Ole A; Scolnick, Edward; Cichon, Sven; St. Clair, David; Corvin, Aiden; Gurling, Hugh

    2011-01-01

    We examined the role of common genetic variation in schizophrenia in a genome-wide association study of substantial size: a stage 1 discovery sample of 21,856 individuals of European ancestry and a stage 2 replication sample of 29,839 independent subjects. The combined stage 1 and 2 analysis yielded genome-wide significant associations with schizophrenia for seven loci, five of which are new (1p21.3, 2q32.3, 8p23.2, 8q21.3 and 10q24.32-q24.33) and two of which have been previously implicated ...

  17. Genome-wide association study identifies five new schizophrenia loci.

    OpenAIRE

    Ripke, Stephan; Sanders, Alan R.; Kendler, Kenneth S.; Levinson, Douglas F.; Sklar, Pamela; Holmans, Peter A.; Lin, Dan-Yu; Duan, Jubao; Ophoff, Roel A.; Andreassen, Ole A; Scolnick, Edward; Cichon, Sven; St. Clair, David; Corvin, Aiden; Gurling, Hugh

    2011-01-01

    We examined the role of common genetic variation in schizophrenia in a genome-wide association study of substantial size: a stage 1 discovery sample of 21,856 individuals of European ancestry and a stage 2 replication sample of 29,839 independent subjects. The combined stage 1 and 2 analysis yielded genome-wide significant associations with schizophrenia for seven loci, five of which are new (1p21.3, 2q32.3, 8p23.2, 8q21.3 and 10q24.32-q24.33) and two of which have been previously implicated ...

  18. Regulatory implications of source term studies

    International Nuclear Information System (INIS)

    A possible set of criteria for the reassessment of severe accidents in LWRs is discussed as well as the definition of new upper bound generalized source terms for regulatory purposes, as a consequence of the indications given by recent source term studies. Also described is the outcome of recent work carried out at the Comitato Nazionale per la Ricerca e per lo Sviluppo dell'Energia Nucleare e delle Energie Alternative (ENEA/DISP), Italy, by an internal task force and by external supporting organizations. Probabilistic evaluations and qualitative-good judgement criteria are used to define an optimum accident reference level and the corresponding source terms. The approach suggests that only dominant sequences should be considered, neglecting the most unlikely lesser known phenomena, and that the possibility of pre-existing openings in the containment and of operator recovery and repair actions, besides human errors, should be included. Probabilistic evaluations are, in the first instance, used to discriminate between those sequences to be included and those to be neglected. To this purpose a relative cut-off probability, conditional upon core melt, is suggested. A relative threshold of 0.05 on each sequence is used. The exercise is limited to some typical accident sequences. As a result, external releases of volatile fission products (except noble gases) are conservatively found to be lower than 10-3 times the core inventory for both typical PWRs and BWRs. Only a summary of the ENEA/DISP studies and results is provided. (author)

  19. Genetic associations with neuroendocrine tumor risk: results from a genome-wide association study.

    Science.gov (United States)

    Du, Yeting; Ter-Minassian, Monica; Brais, Lauren; Brooks, Nichole; Waldron, Amanda; Chan, Jennifer A; Lin, Xihong; Kraft, Peter; Christiani, David C; Kulke, Matthew H

    2016-08-01

    The etiology of neuroendocrine tumors remains poorly defined. Although neuroendocrine tumors are in some cases associated with inherited genetic syndromes, such syndromes are rare. The majority of neuroendocrine tumors are thought to be sporadic. We performed a genome-wide association study (GWAS) to identify potential genetic risk factors for sporadic neuroendocrine tumors. Using germline DNA from blood specimens, we genotyped 909,622 SNPs using the Affymetrix 6.0 GeneChip, in a cohort comprising 832 neuroendocrine tumor cases from Dana-Farber Cancer Institute and Massachusetts General Hospital and 4542 controls from the Harvard School of Public Health. An additional 241 controls from Dana-Farber Cancer Institute were used for quality control. We assessed risk associations in the overall cohort, and in neuroendocrine tumor subgroups. We identified no potential risk associations in the cohort overall. In the small intestine neuroendocrine tumor subgroup, comprising 293 cases, we identified risk associations with three SNPs on chromosome 12, all in strong LD. The three SNPs are located upstream of ELK3, a transcription factor implicated in angiogenesis. We did not identify clear risk associations in the bronchial or pancreatic neuroendocrine subgroups. This large-scale study provides initial evidence that presumed sporadic small intestine neuroendocrine tumors may have a genetic etiology. Our results provide a basis for further exploring the role of genes implicated in this analysis, and for replication studies to confirm the observed associations. Additional studies to evaluate potential genetic risk factors for sporadic pancreatic and bronchial neuroendocrine tumors are warranted. PMID:27492634

  20. Association between airborne PM2.5 chemical constituents and birth weight—implication of buffer exposure assignment

    International Nuclear Information System (INIS)

    Several papers reported associations between airborne fine particulate matter (PM2.5) and birth weight, though findings are inconsistent across studies. Conflicting results might be due to (1) different PM2.5 chemical structure across locations, and (2) various exposure assignment methods across studies even among the studies that use ambient monitors to assess exposure. We investigated associations between birth weight and PM2.5 chemical constituents, considering issues arising from choice of buffer size (i.e. distance between residence and pollution monitor). We estimated the association between each pollutant and term birth weight applying buffers of 5 to 30 km in Connecticut (2000–2006), in the New England region of the USA. We also investigated the implication of the choice of buffer size in relation to population characteristics, such as socioeconomic status. Results indicate that some PM2.5 chemical constituents, such as nitrate, are associated with lower birth weight and appear more harmful than other constituents. However, associations vary with buffer size and the implications of different buffer sizes may differ by pollutant. A homogeneous pollutant level within a certain distance is a common assumption in many environmental epidemiology studies, but the validity of this assumption may vary by pollutant. Furthermore, we found that areas close to monitors reflect more minority and lower socio-economic populations, which implies that different exposure approaches may result in different types of study populations. Our findings demonstrate that choosing an exposure method involves key tradeoffs of the impacts of exposure misclassification, sample size, and population characteristics. (letter)

  1. The implications of trade liberalization for diet and health: a case study from Central America

    OpenAIRE

    Hawkes Corinna; Thow Anne Marie

    2009-01-01

    Abstract Background Central America has undergone extensive trade liberalization over the past two decades, and has recently signed a Free Trade Agreement with the United States. The region is also experiencing a dual burden of malnutrition with the growth of dietary patterns associated with the global 'nutrition transition'. This study describes the relationship between trade liberalization policies and food imports and availability, and draws implications for diet and health, using Central ...

  2. Trace Amines and the Trace Amine-Associated Receptor 1: Pharmacology, Neurochemistry and Clinical Implications

    Directory of Open Access Journals (Sweden)

    Yue ePei

    2016-04-01

    Full Text Available Biogenic amines are a collection of endogenous molecules that play pivotal roles as neurotransmitters and hormones. In addition to the classical biogenic amines resulting from decarboxylation of aromatic acids, including dopamine (DA, norepinephrine, epinephrine, serotonin (5-HT and histamine, other biogenic amines, present at much lower concentrations in the central nervous system (CNS, and hence referred to as trace amines (TAs, are now recognized to play significant neurophysiological and behavioural functions. At the turn of the century, the discovery of the trace amine-associated receptor 1 (TAAR1, a phylogenetically conserved G protein-coupled receptor that is responsive to both TAs, such as β-phenylethylamine, octopamine and tyramine, and structurally-related amphetamines, unveiled mechanisms of action for TAs other than interference with aminergic pathways, laying the foundations for deciphering the functional significance of TAs and its mammalian CNS receptor, TAAR1. Although its molecular interactions and downstream targets have not been fully elucidated, TAAR1 activation triggers accumulation of intracellular cAMP, modulates PKA and PKC signalling and interferes with the β-arrestin2-dependent pathway via G protein-independent mechanisms. TAAR1 is uniquely positioned to exert direct control over DA and 5-HT neuronal firing and release, which has profound implications for understanding the pathophysiology of, and therefore designing more efficacious therapeutic interventions for, a range of neuropsychiatric disorders that involve aminergic dysregulation, including Parkinson’s disease, schizophrenia, mood disorders and addiction. Indeed, the recent development of novel pharmacological tools targeting TAAR1 has uncovered the remarkable potential of TAAR1-based medications as new generation pharmacotherapies in neuropsychiatry. This review summarizes recent developments in the study of TAs and TAAR1, their intricate neurochemistry and

  3. Trace Amines and the Trace Amine-Associated Receptor 1: Pharmacology, Neurochemistry, and Clinical Implications.

    Science.gov (United States)

    Pei, Yue; Asif-Malik, Aman; Canales, Juan J

    2016-01-01

    Biogenic amines are a collection of endogenous molecules that play pivotal roles as neurotransmitters and hormones. In addition to the "classical" biogenic amines resulting from decarboxylation of aromatic acids, including dopamine (DA), norepinephrine, epinephrine, serotonin (5-HT), and histamine, other biogenic amines, present at much lower concentrations in the central nervous system (CNS), and hence referred to as "trace" amines (TAs), are now recognized to play significant neurophysiological and behavioral functions. At the turn of the century, the discovery of the trace amine-associated receptor 1 (TAAR1), a phylogenetically conserved G protein-coupled receptor that is responsive to both TAs, such as β-phenylethylamine, octopamine, and tyramine, and structurally-related amphetamines, unveiled mechanisms of action for TAs other than interference with aminergic pathways, laying the foundations for deciphering the functional significance of TAs and its mammalian CNS receptor, TAAR1. Although, its molecular interactions and downstream targets have not been fully elucidated, TAAR1 activation triggers accumulation of intracellular cAMP, modulates PKA and PKC signaling and interferes with the β-arrestin2-dependent pathway via G protein-independent mechanisms. TAAR1 is uniquely positioned to exert direct control over DA and 5-HT neuronal firing and release, which has profound implications for understanding the pathophysiology of, and therefore designing more efficacious therapeutic interventions for, a range of neuropsychiatric disorders that involve aminergic dysregulation, including Parkinson's disease, schizophrenia, mood disorders, and addiction. Indeed, the recent development of novel pharmacological tools targeting TAAR1 has uncovered the remarkable potential of TAAR1-based medications as new generation pharmacotherapies in neuropsychiatry. This review summarizes recent developments in the study of TAs and TAAR1, their intricate neurochemistry and

  4. The second national hospital costing study: background, results and implications.

    Science.gov (United States)

    Oates, B; Murray, J; Hindle, D

    1998-01-01

    The costing of hospital outputs, and especially of acute admitted patients categorised by DRG, has been the focus of considerable attention in the last decade. Many individual hospitals now routinely estimate the costs of their main products, several State and Territory health authorities undertake periodic multi-site studies, and there have been a few one-off national studies. This paper summarises the methods and results of the most recent national study, which measured costs at a sample of public and private hospitals around Australia for the 1996-97 financial year. We briefly describe the main results and note some implications. PMID:10185689

  5. Ventilator associated pneumonia and transfusion, is there really an association? (the NAVTRA study

    Directory of Open Access Journals (Sweden)

    Gonzalez Marco

    2006-07-01

    Full Text Available Abstract Background Anemic syndrome is a frequent problem in intensive care units. The most probable etiology is the suppression of the erythropoietin response due to the direct effects of cytokines, as well as frequent blood sampling. Transfusions are not free of complications, therefore transfusion reactions are estimated to occur in 2% of the total packed red blood cells (pRBCs transfused. In the past several years, several trials had tried to compare the restrictive with the more liberal use of transfusions, and they were found to be equally effective. Nosocomial pneumonia is the most common nosocomial infection in intensive care units; the prevalence is 47% with an attributive mortality of 33%. There are multiple risk factors for the development of nosocomial pneumonia. Colonization of the upper airways is the most important pathophysiological factor but there are other factors implicated like, sedation techniques, inappropriate use of antibiotics and recumbent positioning. A secondary analysis of the CRIT study describes transfusion therapy and its practices in the United States. They found that transfusion practice is an independent risk factor for the development of nosocomial pneumonia. Methods This is a multicenter, prospective cohort study in different intensive care units in Colombia. A total of 474 patients were selected who had more than 48 hours of mechanical ventilation. The primary objective is to try to demonstrate the hypothetical relationship between the use of transfusions and nosocomial pneumonia. Secondly, we will try to determine which other factors are implicated in the development of pneumonia in intensive care units and describe the incidence of pneumonia and transfusion practices. Discussion Ventilator associated pneumonia is a primary problem in the intensive care unit, multiple factors have been associated with its presence in this study we try to explore the possible association between pneumonia and transfusion

  6. Genetic association studies in lumbar disc degeneration

    DEFF Research Database (Denmark)

    Eskola, Pasi J; Lemmelä, Susanna; Kjær, Per;

    2012-01-01

    Low back pain is associated with lumbar disc degeneration, which is mainly due to genetic predisposition. The objective of this study was to perform a systematic review to evaluate genetic association studies in lumbar disc degeneration as defined on magnetic resonance imaging (MRI) in humans....

  7. Cross-sectional study of morbidity, morbidity-associated factors and cost of treatment in Ngaoundere, Cameroon, with implications for health policy in developing countries and development assistance policy

    Directory of Open Access Journals (Sweden)

    Holtedahl Knut

    2002-04-01

    Full Text Available Abstract Background In a population-based epidemiological study in Ngaoundere, Cameroon, we studied cross-sectional child morbidity and the cost of necessary investigation and treatment. Methods Three teams of two to three health workers visited haphazardly selected households in all major housing quarters. We asked permission to enter for a health survey. Children with cough, fever or weight loss as well as sick adults were offered free-of-charge local hospital examination and treatment. Results From 177 households with 1777 persons, 51 (2.9% persons were referred. Thirty-five of them had an undiagnosed disease threatening individual health and in many cases also public health. Seven were hospitalised, including three adults with tuberculosis. Malnutrition was diagnosed in nine small children. Four patients had AIDS, seven had malaria. Average total cost for ambulant patients was 15 USD, for hospitalised patients 110 USD. In the households, almost half of the women 16–50 years of age had no schooling. Two per cent of women and nine per cent of men were daily smokers. Coughing children were more likely than non-coughing children to live in a household with at least one smoker (OR = 3.58, 95% CI 1.72 to 7.46, and they generally lived in more poor households (P = 0.018. Twelve of 16 children with weight loss were referred from households with a high poverty score. Conclusions Adult smoking and poverty affect children's health. The cost of hospitalisation or long-lasting therapy is beyond the means of most ordinary families. Diseases with severe consequences for public health, like tuberculosis, AIDS and malaria should have national programs with free, decentralised examination and treatment. Access to generic drugs is important. A major educational effort is needed to improve public health.

  8. Reporting and evaluating genetic association studies

    Directory of Open Access Journals (Sweden)

    Peters Stephen P

    2009-11-01

    Full Text Available Abstract Genetic association studies have become an important part of our scientific landscape. This commentary discusses some basic scientific issues which should be considered when reporting and evaluating such studies including SNP Discovery, Genotyping and Haplotype Analysis; Population Size, Matching of Cases and Controls, and Population Stratification; Phenotype Definition and Multiple Related Phenotypes; Multiple Testing; Replication; Genome-wide Association Studies (GWAS; and the Role of Functional Studies. All of these elements are important in evaluating such studies and should be carefully considered when these studies are conceived and carried out.

  9. Associations between Sleep, Cortisol Regulation, and Diet: Possible Implications for the Risk of Alzheimer Disease.

    Science.gov (United States)

    Pistollato, Francesca; Sumalla Cano, Sandra; Elio, Iñaki; Masias Vergara, Manuel; Giampieri, Francesca; Battino, Maurizio

    2016-07-01

    Accumulation of proteinaceous amyloid β plaques and tau oligomers may occur several years before the onset of Alzheimer disease (AD). Under normal circumstances, misfolded proteins get cleared by proteasome degradation, autophagy, and the recently discovered brain glymphatic system, an astroglial-mediated interstitial fluid bulk flow. It has been shown that the activity of the glymphatic system is higher during sleep and disengaged or low during wakefulness. As a consequence, poor sleep quality, which is associated with dementia, might negatively affect glymphatic system activity, thus contributing to amyloid accumulation. The diet is another important factor to consider in the regulation of this complex network. Diets characterized by high intakes of refined sugars, salt, animal-derived proteins and fats and by low intakes of fruit and vegetables are associated with a higher risk of AD and can perturb the circadian modulation of cortisol secretion, which is associated with poor sleep quality. For this reason, diets and nutritional interventions aimed at restoring cortisol concentrations may ease sleep disorders and may facilitate brain clearance, consequentially reducing the risk of cognitive impairment and dementia. Here, we describe the associations that exist between sleep, cortisol regulation, and diet and their possible implications for the risk of cognitive impairment and AD. PMID:27422503

  10. Body mass index and its association with lumbar disc herniation and sciatica: a large-scale, population-based study

    OpenAIRE

    Samartzis, D; Karppinen, JI; Luk, KDK; Cheung, KMC

    2014-01-01

    INTRODUCTION: This large-scale study addressed the association of body mass index (BMI), especially overweight / obesity with lumbar disc herniation, its global lumbar involvement and implications with sciatica that little of which is ...

  11. Dosimetry implications of BSH biodistribution study at OSU

    International Nuclear Information System (INIS)

    A BSH biodistribution study was performed at Ohio State University, where tumor, normal brain, and blood boron concentrations of patients undergoing tumor debulking surgery were acquired. The results of this biodistribution study are subjects of other presentations in this meeting. In this paper, we present an overview of the dosimetry implications of this biodistribution data. The analysis for this paper assumed that the tumor boron RBE was factor of two higher than the normal brain boron RBE. Our conclusions from this analysis were that with the tumor/blood ratios observed in our patients for times of up to 14 hours post commencement of boron infusion, one could not successfully treat patients with BNCT using BSH. (author)

  12. 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

  13. Perceptions of family environment and wraparound processes: associations with age and implications for serving transitioning youth in systems of care.

    Science.gov (United States)

    Haber, Mason G; Cook, James R; Kilmer, Ryan P

    2012-06-01

    Addressing the unique needs of youth transitioning to adulthood has long been viewed as a priority in implementation of systems of care (SOCs) and wraparound. Developmental research and "practice-based evidence" suggest that there are differences between transitioning youth and their younger peers in family environment and wraparound team processes. Although these differences are thought to have significant implications for wraparound practice, few studies have examined them empirically. The present research involves two studies examining differences across several age cohorts (i.e., 10–12, 13, 14, 15, 16–17 year-olds) ranging from early adolescent to transitioning youth in: (1) caregiver perceptions of role-related strain and family environment quality, and (2) facilitator, caregiver, and youth perceptions of wraparound processes. In Study #1, older age was associated with higher levels of caregiver strain. In Study #2, age was associated with differences between youth and other team members' perceptions of wraparound processes, such that older youth perceived teams as less cohesive than others on their teams. These findings suggest that transitioning youth and their families merit special consideration in wraparound implementation and underscore the importance of considering the perceptions of transitioning youth in system change and practice improvement efforts (192 words). PMID:22287015

  14. Genome-wide association studies in asthma: progress and pitfalls

    Directory of Open Access Journals (Sweden)

    March ME

    2015-01-01

    Full Text Available Michael E March,1 Patrick MA Sleiman,1,2 Hakon Hakonarson1,2 1Center for Applied Genomics, Children's Hospital of Philadelphia Research Institute, 2Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA Abstract: Genetic studies of asthma have revealed that there is considerable heritability to the phenotype. An extensive history of candidate-gene studies has identified a long list of genes associated with immune function that are potentially involved in asthma pathogenesis. However, many of the results of candidate-gene studies have failed to be replicated, leaving in question the true impact of the implicated biological pathways on asthma. With the advent of genome-wide association studies, geneticists are able to examine the association of hundreds of thousands of genetic markers with a phenotype, allowing the hypothesis-free identification of variants associated with disease. Many such studies examining asthma or related phenotypes have been published, and several themes have begun to emerge regarding the biological pathways underpinning asthma. The results of many genome-wide association studies have currently not been replicated, and the large sample sizes required for this experimental strategy invoke difficulties with sample stratification and phenotypic heterogeneity. Recently, large collaborative groups of researchers have formed consortia focused on asthma, with the goals of sharing material and data and standardizing diagnosis and experimental methods. Additionally, research has begun to focus on genetic variants that affect the response to asthma medications and on the biology that generates the heterogeneity in the asthma phenotype. As this work progresses, it will move asthma patients closer to more specific, personalized medicine. Keywords: asthma, genetics, GWAS, pharmacogenetics, biomarkers

  15. Combining genetic association study designs: a GWAS case study

    OpenAIRE

    Estus, Janice L.; ,; Fardo, David W.

    2013-01-01

    Genome-wide association studies (GWAS) explore the relationship between genome variability and disease susceptibility with either population- or family-based data. Here, we have evaluated the utility of combining population- and family-based statistical association tests and have proposed a method for reducing the burden of multiple testing. Unrelated singleton and parent-offspring trio cases and controls from the Genetics of Kidneys in Diabetes (GoKinD) study were analyzed for genetic associ...

  16. Periodontal Systemic Connections-Novel Associations-A Review of the Evidence with Implications for Medical Practitioners

    Science.gov (United States)

    Kalakonda, Butchibabu; Koppolu, Pradeep; Baroudi, Kusai; Mishra, Ashank

    2016-01-01

    Periodontal diseases, considered as inflammatory diseases have proved to have a spectrum of systemic implications. Earliest research has associated periodontal disease with common systemic aliments such as hypertension, diabetes, osteoporosis, rheumatoid arthritis to name a few. The evolution of advanced diagnostic aids let researchers make vast inroads in linking periodontal diseases to systemic diseases like Alzheimer’s disease (AD) and even Schizophrenia. Our aim was to review and critically evaluate comprehensive literature and provide knowledge to medical practitioners on these associations so as to pave way for closer interactions between medical and dental practitioners in implementing better health care. Electronic databases such as PubMed, Google Scholar and Cochrane databases were used as source of the data for relevant studies published from 2005 up to 2015 with the following keywords, “‘Periodontal disease”, “systemic conditions”, “periodontal disease and Alzheimer’s”, “Periodontal disease and Schizophrenia”, “Periodontal disease and Psoriasis” and “Periodontal disease and erectile dysfunction”. The evidence presented ascertains that a reasonable and modest association does exist between Periodontal disease and Alzheimer’s, Schizophrenia, Erectile dysfunction, as well as Psoriasis and thus establishes periodontal disease as a potential risk factor. PMID:27103910

  17. Periodontal Systemic Connections-Novel Associations-A Review of the Evidence with Implications for Medical Practitioners.

    Science.gov (United States)

    Kalakonda, Butchibabu; Koppolu, Pradeep; Baroudi, Kusai; Mishra, Ashank

    2016-04-01

    Periodontal diseases, considered as inflammatory diseases have proved to have a spectrum of systemic implications. Earliest research has associated periodontal disease with common systemic aliments such as hypertension, diabetes, osteoporosis, rheumatoid arthritis to name a few. The evolution of advanced diagnostic aids let researchers make vast inroads in linking periodontal diseases to systemic diseases like Alzheimer's disease (AD) and even Schizophrenia. Our aim was to review and critically evaluate comprehensive literature and provide knowledge to medical practitioners on these associations so as to pave way for closer interactions between medical and dental practitioners in implementing better health care. Electronic databases such as PubMed, Google Scholar and Cochrane databases were used as source of the data for relevant studies published from 2005 up to 2015 with the following keywords, "'Periodontal disease", "systemic conditions", "periodontal disease and Alzheimer's", "Periodontal disease and Schizophrenia", "Periodontal disease and Psoriasis" and "Periodontal disease and erectile dysfunction". The evidence presented ascertains that a reasonable and modest association does exist between Periodontal disease and Alzheimer's, Schizophrenia, Erectile dysfunction, as well as Psoriasis and thus establishes periodontal disease as a potential risk factor. PMID:27103910

  18. Gene-centric Association Mapping of Chromosome 3p implicates MST1 in IBD pathogenesis

    OpenAIRE

    Goyette, Philippe; Ng, Aylwin; Lefebvre, Céline; Brant, Steven R.; Cho, Judy H; Duerr, Richard H.; Silverberg, Mark S; Kent D. Taylor; Latiano, Anna; Aumais, Guy; Deslandres, Colette; Jobin, Gilles; Annese, Vito; Daly, Mark J.; Xavier, Ramnik J.

    2008-01-01

    Association mapping and candidate gene studies within IBD linkage regions, as well as genome-wide association studies in CD have led to the discovery of multiple risk genes, but these only explain a fraction of the genetic susceptibility observed in IBD. We have thus been pursuing a region on chromosome 3p21-22 showing linkage to CD and UC using a gene-centric association mapping approach. We identified twelve functional candidate genes by searching for literature co-citations with relevant k...

  19. 77 FR 9946 - Draft Guidance for Industry on Drug Interaction Studies-Study Design, Data Analysis, Implications...

    Science.gov (United States)

    2012-02-21

    ... on Drug Interaction Studies--Study Design, Data Analysis, Implications for Dosing, and Labeling... entitled ``Drug Interaction Studies--Study Design, Data Analysis, Implications for Dosing, and Labeling... vivo studies, in vivo study design, and data analysis in the context of identifying potential...

  20. A Pooled Genome-Wide Association Study of Asperger Syndrome.

    Directory of Open Access Journals (Sweden)

    Varun Warrier

    Full Text Available Asperger Syndrome (AS is a neurodevelopmental condition characterized by impairments in social interaction and communication, alongside the presence of unusually repetitive, restricted interests and stereotyped behaviour. Individuals with AS have no delay in cognitive and language development. It is a subset of Autism Spectrum Conditions (ASC, which are highly heritable and has a population prevalence of approximately 1%. Few studies have investigated the genetic basis of AS. To address this gap in the literature, we performed a genome-wide pooled DNA association study to identify candidate loci in 612 individuals (294 cases and 318 controls of Caucasian ancestry, using the Affymetrix GeneChip Human Mapping version 6.0 array. We identified 11 SNPs that had a p-value below 1x10-5. These SNPs were independently genotyped in the same sample. Three of the SNPs (rs1268055, rs7785891 and rs2782448 were nominally significant, though none remained significant after Bonferroni correction. Two of our top three SNPs (rs7785891 and rs2782448 lie in loci previously implicated in ASC. However, investigation of the three SNPs in the ASC genome-wide association dataset from the Psychiatric Genomics Consortium indicated that these three SNPs were not significantly associated with ASC. The effect sizes of the variants were modest, indicating that our study was not sufficiently powered to identify causal variants with precision.

  1. A Comparative Study of Sparse Associative Memories

    Science.gov (United States)

    Gripon, Vincent; Heusel, Judith; Löwe, Matthias; Vermet, Franck

    2016-07-01

    We study various models of associative memories with sparse information, i.e. a pattern to be stored is a random string of 0s and 1s with about log N 1s, only. We compare different synaptic weights, architectures and retrieval mechanisms to shed light on the influence of the various parameters on the storage capacity.

  2. Associative Visual Agnosia: A Case Study

    OpenAIRE

    A. Charnallet; S. Carbonnel; David, D; O. Moreaud

    2008-01-01

    We report a case of massive associative visual agnosia. In the light of current theories of identification and semantic knowledge organization, a deficit involving both levels of structural description system and visual semantics must be assumed to explain the case. We suggest, in line with a previous case study [1], an alternative account in the framework of (non abstractive) episodic models of memory [4].

  3. Quantifying Shark Distribution Patterns and Species-Habitat Associations: Implications of Marine Park Zoning

    OpenAIRE

    Mario Espinoza; Mike Cappo; Heupel, Michelle R.; Tobin, Andrew J.; Simpfendorfer, Colin A.

    2014-01-01

    Quantifying shark distribution patterns and species-specific habitat associations in response to geographic and environmental drivers is critical to assessing risk of exposure to fishing, habitat degradation, and the effects of climate change. The present study examined shark distribution patterns, species-habitat associations, and marine reserve use with baited remote underwater video stations (BRUVS) along the entire Great Barrier Reef Marine Park (GBRMP) over a ten year period. Overall, 21...

  4. Quantum-holographic and classical Hopfield-like associative nnets: implications for modeling two cognitive modes of consciousness

    Science.gov (United States)

    Rakovic, D.; Dugic, M.

    2005-05-01

    Quantum bases of consciousness are considered with psychosomatic implications of three front lines of psychosomatic medicine (hesychastic spirituality, holistic Eastern medicine, and symptomatic Western medicine), as well as cognitive implications of two modes of individual consciousness (quantum-coherent transitional and altered states, and classically reduced normal states) alongside with conditions of transformations of one mode into another (considering consciousness quantum-coherence/classical-decoherence acupuncture system/nervous system interaction, direct and reverse, with and without threshold limits, respectively) - by using theoretical methods of associative neural networks and quantum neural holography combined with quantum decoherence theory.

  5. Buoyant Nanoparticles: Implications for Nano-Biointeractions in Cellular Studies.

    Science.gov (United States)

    Watson, C Y; DeLoid, G M; Pal, A; Demokritou, P

    2016-06-01

    In the safety and efficacy assessment of novel nanomaterials, the role of nanoparticle (NP) kinetics in in vitro studies is often ignored although it has significant implications in dosimetry, hazard ranking, and nanomedicine efficacy. It is demonstrated here that certain nanoparticles are buoyant due to low effective densities of their formed agglomerates in culture media, which alters particle transport and deposition, dose-response relationships, and underestimates toxicity and bioactivity. To investigate this phenomenon, this study determines the size distribution, effective density, and assesses fate and transport for a test buoyant NP (polypropylene). To enable accurate dose-response assessment, an inverted 96-well cell culture platform is developed in which adherent cells are incubated above the buoyant particle suspension. The effect of buoyancy is assessed by comparing dose-toxicity responses in human macrophages after 24 h incubation in conventional and inverted culture systems. In the conventional culture system, no adverse effects are observed at any NP concentration tested (up to 250 μg mL(-1) ), whereas dose-dependent decreases in viability and increases in reactive oxygen species are observed in the inverted system. This work sheds light on an unknown issue that plays a significant role in vitro hazard screening and proposes a standardized methodology for buoyant NP assessments. PMID:27135209

  6. Examining the relationship between affect and implicit associations: implications for risk perception.

    Science.gov (United States)

    Dohle, Simone; Keller, Carmen; Siegrist, Michael

    2010-07-01

    It has been suggested that affect may play an important role in risk perception. Slovic et al. argued that people make use of the "affect heuristic" when assessing risks because it is easier and more efficient to rely on spontaneous affective reactions than to analyze all available information. In the present studies, a single category implicit association test (SC-IAT) to measure associations evoked by different hazards was employed. In the first study, we tested the extent to which the SC-IAT corresponds to the theoretical construct of affect in a risk framework. Specifically, we found that the SC-IAT correlates with other explicit measures that claim to measure affect, as well as with a measure of trust, but not with a measure that captures a different construct (subjective knowledge). In the second study, we addressed the question of whether hazards that vary along the dread dimension of the psychometric paradigm also differ in the affect they evoke. The results of the SC-IAT indicated that a high-dread hazard (nuclear power) elicits negative associations. Moreover, the high-dread hazard evoked more negative associations than a medium-dread hazard (hydroelectric power). In contrast, a nondread hazard (home appliances) led to positive associations. The results of our study highlight the importance of affect in shaping attitudes and opinions toward risks. The results further suggest that implicit measures may provide valuable insight into people's risk perception above and beyond explicit measures. PMID:20409044

  7. Physiological Effects Associated with Quinoa Consumption and Implications for Research Involving Humans: a Review.

    Science.gov (United States)

    Simnadis, Thomas George; Tapsell, Linda C; Beck, Eleanor J

    2015-09-01

    Quinoa is a pseudo-grain consumed as a dietary staple in South America. In recent years, consumer demand for quinoa in the developed world has grown steadily. Its perceived health benefits have been cited as a driving force behind this trend, but there are very few human studies investigating the impact of quinoa consumption. The aim of this review was to identify physiological effects of quinoa consumption with potential for human health. A critical evaluation of animal model studies was conducted. The quality of identified studies was assessed using a methodological quality assessment tool and summative conclusions were drawn to guide the direction of future human research. The majority of studies were of fair quality. Purported physiological effects of quinoa consumption included decreased weight gain, improved lipid profile and improved capacity to respond to oxidative stress. These physiological effects were attributed to the presence of saponins, protein and 20-hydroxyecdysone in the quinoa seed. The implications of these findings are that human studies should investigate the impact of quinoa consumption on weight gain and lipid levels. The role of quinoa as an antioxidant is still unclear and requires further elucidation in animal models. PMID:26249220

  8. Associates of an Elevated Natriuretic Peptide Level in Stable Heart Failure Patients: Implications for Targeted Management

    Directory of Open Access Journals (Sweden)

    Aftab Jan

    2013-01-01

    Full Text Available Background. Persistently elevated natriuretic peptide (NP levels in heart failure (HF patients are associated with impaired prognosis. Recent work suggests that NP-guided therapy can improve outcome, but the mechanisms behind an elevated BNP remain unclear. Among the potential stimuli for NP in clinically stable patients are persistent occult fluid overload, wall stress, inflammation, fibrosis, and ischemia. The purpose of this study was to identify associates of B-type natriuretic peptide (BNP in a stable HF population. Methods. In a prospective observational study of 179 stable HF patients, the association between BNP and markers of collagen metabolism, inflammation, and Doppler-echocardiographic parameters including left ventricular ejection fraction (LVEF, left atrial volume index (LAVI, and E/e prime (E/e′ was measured. Results. Univariable associates of elevated BNP were age, LVEF, LAVI, E/e′, creatinine, and markers of collagen turnover. In a multiple linear regression model, age, creatinine, and LVEF remained significant associates of BNP. E/e′ and markers of collagen turnover had a persistent impact on BNP independent of these covariates. Conclusion. Multiple variables are associated with persistently elevated BNP levels in stable HF patients. Clarification of the relative importance of NP stimuli may help refine NP-guided therapy, potentially improving outcome for this at-risk population.

  9. Fluid retention associated with imatinib treatment in patients with gastroenterol stromal: Quantitative radiologic assessment and implications for management

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Kyung Won; Shinagare, Atul B.; Krajewski, Katherine M.; Tirumani, Sree Harsha; Jagannathan, Jyothi P.; Ramaiya, Nikihil H. [Dept. of Imaging, Dana-Farber Cancer Institute, Brigham and Women' s Hospital, Harvard Medical School, Boston (United States); Pyo, Jun Hee [The Institute for Clinical Research and Health Policy Studies, Tufts Medical Center, Boston (United States)

    2015-04-15

    We aimed to describe radiologic signs and time-course of imatinib-associated fluid retention (FR) in patients with gastrointestinal stromal tumor (GIST), and its implications for management. In this Institutional Review Board-approved, retrospective study of 403 patients with GIST treated with imatinib, 15 patients with imaging findings of FR were identified by screening radiology reports, followed by manual confirmation. Subcutaneous edema, ascites, pleural effusion, and pericardial effusion were graded on a four-point scale on CT scans; total score was the sum of these four scores. The most common radiologic sign of FR was subcutaneous edema (15/15, 100%), followed by ascites (12/15, 80%), pleural effusion (11/15, 73%), and pericardial effusion (6/15, 40%) at the time of maximum FR. Two distinct types of FR were observed: 1) acute/progressive FR, characterized by acute aggravation of FR and rapid improvement after management, 2) intermittent/steady FR, characterized by occasional or persistent mild FR. Acute/progressive FR always occurred early after drug initiation/dose escalation (median 1.9 month, range 0.3-4.0 months), while intermittent/steady FR occurred at any time. Compared to intermittent/steady FR, acute/progressive FR was severe (median score, 5 vs. 2.5, p = 0.002), and often required drug-cessation/dose-reduction. Two distinct types (acute/progressive and intermittent/steady FR) of imatinib-associated FR are observed and each type requires different management.

  10. MARKETING IMPLICATIONS FROM THE NATIONAL CONSUMER BEEF STUDY

    OpenAIRE

    Branson, Robert E.; Cross, H. Russell; Savell, Jeff W.; Smith, Gary C.; Edwards, Richard A.

    1986-01-01

    Increased consumer health concerns over ingestion of animal fats have spawned consumer research regarding effects of different degrees of leanness (marbling levels) on consumer demand. Previous research is reviewed and a recent multi-city consumer panel test is reported. Implications of the multi-city results are discussed from the viewpoint of applicability of normative consumer behavior demand theory, and implications of the findings for beef marketing structure and strategies. Suggestions ...

  11. A norovirus outbreak associated with consumption of NSW oysters: implications for quality assurance systems.

    Science.gov (United States)

    Huppatz, Clare; Munnoch, Sally A; Worgan, Tory; Merritt, Tony D; Dalton, Craig; Kelly, Paul M; Durrheim, David N

    2008-03-01

    Norovirus is a common cause of gastroenteritis outbreaks associated with raw shellfish consumption. In Australia there have been several reports of norovirus outbreaks associated with oysters despite the application of regulatory measures recommended by Food Standards Australia New Zealand. This study describes an outbreak of norovirus gastroenteritis following the consumption of New South Wales oysters. In September 2007, OzFoodNet conducted a cohort study of a gastroenteritis outbreak amongst people that had dined at a Port Macquarie restaurant. Illness was strongly associated with oyster consumption, with all cases having eaten oysters from the same lease (RR undefined, p quality assurance programs do not routinely test oysters for viral contamination that pose a risk to human health. It is recommended that the feasibility of testing oysters for norovirus, particularly after known faecal contamination of oyster leases, be assessed. PMID:18522310

  12. Genetic Risk Scores Implicated in Adult Bone Fragility Associate With Pediatric Bone Density.

    Science.gov (United States)

    Mitchell, Jonathan A; Chesi, Alessandra; Elci, Okan; McCormack, Shana E; Roy, Sani M; Kalkwarf, Heidi J; Lappe, Joan M; Gilsanz, Vicente; Oberfield, Sharon E; Shepherd, John A; Kelly, Andrea; Grant, Struan Fa; Zemel, Babette S

    2016-04-01

    Using adult identified bone mineral density (BMD) loci, we calculated genetic risk scores (GRS) to determine if they were associated with changes in BMD during childhood. Longitudinal data from the Bone Mineral Density in Childhood Study were analyzed (N = 798, 54% female, all European ancestry). Participants had up to 6 annual dual energy X-ray scans, from which areal BMD (aBMD) Z-scores for the spine, total hip, and femoral neck were estimated, as well as total body less head bone mineral content (TBLH-BMC) Z-scores. Sixty-three single-nucleotide polymorphisms (SNPs) were genotyped, and the percentage of BMD-lowering alleles carried was calculated (overall adult GRS). Subtype GRS that include SNPs associated with fracture risk, pediatric BMD, WNT signaling, RANK-RANKL-OPG, and mesenchymal stem cell differentiation were also calculated. Linear mixed effects models were used to test associations between each GRS and bone Z-scores, and if any association differed by sex and/or chronological age. The overall adult, fracture, and WNT signaling GRS were associated with lower Z-scores (eg, spine aBMD Z-score: βadult  = -0.04, p = 3.4 × 10(-7) ; βfracture = -0.02, p = 8.9 × 10(-6) ; βWNT  = -0.01, p = 3.9 × 10(-4) ). The overall adult GRS was more strongly associated with lower Z-scores in females (p-interaction ≤ 0.05 for all sites). The fracture GRS was more strongly associated with lower Z-scores with increasing age (p-interaction ≤ 0.05 for all sites). The WNT GRS associations remained consistent for both sexes and all ages (p-interaction > 0.05 for all sites). The RANK-RANKL-OPG GRS was more strongly associated in females with increasing age (p-interaction < 0.05 for all sites). The mesenchymal stem cell GRS was associated with lower total hip and femoral neck Z-scores, in both boys and girls, across all ages. No associations were observed between the pediatric GRS and bone Z-scores. In conclusion, adult identified BMD loci associated with BMD and

  13. Study of Implications of FDI on Indian Economy

    Directory of Open Access Journals (Sweden)

    Srikant MISRA

    2012-12-01

    Full Text Available Foreign direct investment (FDI is always contributing in the positive growth toward the economy of one country due to the investment by another country or country’s personnel’s. The effectiveness and efficiency of Global economy depends upon the investor’s perception, if investment seen with the purpose of long terms investment in the social-economical development then it is said that the investment contributes positively towards global economy, if it is short term for the purpose of making profit then it may be less significant than that long term and disinvestment leads negative effect. The FDI may also be affected due to the governmental trade barriers and policies for the foreign investments and leads to less or more effective toward contribution in economy as well as GDP and GNP of the country.In this paper, our aim is to point out the negative and positive implications which affect the economic scenario and also measure the level of predominance by the factors for economic contribution of particular country with special reference to India. FDI seen as an important catalyst for economic growth in the developing countries, The main purpose of the study is to investigate the impact of FDI on economic growth in India, from the period of 1990 to 2010.This article will also be examined current international investment regime and their relation with Indian economy. This article hopes to find a new position for effectiveness and efficiency of Indian economy through integrated global market by FDI.

  14. Association of Depressive Symptoms and Disease Activity in Children with Asthma: Methodological and Clinical Implications

    Science.gov (United States)

    Waxmonsky, James; Wood, Beatrice L.; Stern, Trudy; Ballow, Mark; Lillis, Kathleen; Cramer-Benjamin, Darci; Mador, Jeffrey; Miller, Bruce D.

    2006-01-01

    Objective: This study was designed to assess the prevalence of depressive symptoms in children with asthma and the association between depression and asthma activity. Method: Children ages 7 to 17 (n = 129) were recruited from a hospital emergency department after presenting for asthma symptoms. The majority of subjects were from disadvantaged,…

  15. Increased Perceived Stress is Associated with Blunted Hedonic Capacity: Potential Implications for Depression Research

    OpenAIRE

    Jahn, Allison L.; Ratner, Kyle G.; Bogdan, Ryan; Pizzagalli, Diego A.

    2007-01-01

    Preclinical studies suggest that stress exerts depressogenic effects by impairing hedonic capacity; in humans, however, the precise mechanisms linking stress and depression are largely unknown. As an initial step towards better understanding the association between stress and anhedonia, the present study tested, in two independent samples, whether individuals reporting elevated stress exhibit decreased hedonic capacity. The Perceived Stress Scale (PSS) measured the degree to which participant...

  16. Gastroschisis and associated defects: an international study.

    LENUS (Irish Health Repository)

    Mastroiacovo, Pierpaolo

    2007-04-01

    Our objective was to evaluate the frequency and type of malformations associated with gastroschisis in a large pool of international data, to identify malformation patterns, and to evaluate the role of maternal age in non-isolated cases. Case-by-case information from 24 registries, all members of the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR), were evaluated. After the exclusion of other abdominal wall defects cases were classified as: (a) isolated; (b) recognizable syndrome, chromosomal or not; (c) multiple congenital anomalies (MCA). Our results showed that out of 3,322 total cases 469 non-isolated cases were registered (14.1%): 41 chromosomal syndromes, 24 other syndromes, and 404 MCA. Among MCA four groups of anomalies were most frequent: CNS (4.5%), cardio-vascular (2.5%), limb (2.2%), and kidney anomalies (1.9%). No similar patterns emerged except two patterns resembling limb-body wall complex and OEIS. In both of them the gastroschisis could be however misclassified. Chromosomal trisomies and possibly non-syndromic MCA are associated with an older maternal age more than isolated cases. On consideration of our data and the most valid studies published in the literature, the best estimate of the proportion of gastroschisis associated with major unrelated defects is about 10%, with a few cases associated to recognizable syndromes. Recognized syndromes with gastroschisis seem to be so exceptional that the well documented and validated cases are worth being published as interesting case report. An appropriate case definition in etiological studies should include only isolated gastroschisis after an appropriate definition of isolated and non-isolated cases and a thorough case-by-case review.

  17. A functional haplotype implicated in vulnerability to develop cocaine dependence is associated with reduced PDYN expression in human brain.

    Science.gov (United States)

    Yuferov, Vadim; Ji, Fei; Nielsen, David A; Levran, Orna; Ho, Ann; Morgello, Susan; Shi, Ruijin; Ott, Jurg; Kreek, Mary Jeanne

    2009-04-01

    Dynorphin peptides and the kappa-opioid receptor are important in the rewarding properties of cocaine, heroin, and alcohol. We tested polymorphisms of the prodynorphin gene (PDYN) for association with cocaine dependence and cocaine/alcohol codependence. We genotyped six single nucleotide polymorphisms (SNPs), located in the promoter region, exon 4 coding, and 3' untranslated region, in 106 Caucasians and 204 African Americans who were cocaine dependent, cocaine/alcohol codependent, or controls. In Caucasians, we found point-wise significant associations of 3'UTR SNPs (rs910080, rs910079, and rs2235749) with cocaine dependence and cocaine/alcohol codependence. These SNPs are in high linkage disequilibrium, comprising a haplotype block. The haplotype CCT was significantly experiment-wise associated with cocaine dependence and with combined cocaine dependence and cocaine/alcohol codependence (false discovery rate, q=0.04 and 0.03, respectively). We investigated allele-specific gene expression of PDYN, using SNP rs910079 as a reporter, in postmortem human brains from eight heterozygous subjects, using SNaPshot assay. There was significantly lower expression for C allele (rs910079), with ratios ranging from 0.48 to 0.78, indicating lower expression of the CCT haplotype of PDYN in both the caudate and nucleus accumbens. Analysis of total PDYN expression in 43 postmortem brains also showed significantly lower levels of preprodynorphin mRNA in subjects having the risk CCT haplotype. This study provides evidence that a 3'UTR PDYN haplotype, implicated in vulnerability to develop cocaine addiction and/or cocaine/alcohol codependence, is related to lower mRNA expression of the PDYN gene in human dorsal and ventral striatum. PMID:18923396

  18. Multiple Intelligences (MI of Associate in Hotel and Restaurant Management Students & Its Implication to the Teaching of Oral Communication

    Directory of Open Access Journals (Sweden)

    Juvy G. Mojares

    2015-11-01

    Full Text Available A number of educators argue that MI helps students build positive attitudes toward learning in English class. A study says that “Students who are using their areas of strength to learn feel more competent and confident and enjoy the challenge of acquiring new information”. This study sought to find out the MI of selected Associate in Hotel and Restaurant Management (AHRMstudents. It also delved on the implication of MI to the teaching of the subject. The research design used was basically a descriptive method employing an adopted MI survey form administered to Oral Communication students. There were five sections of second year AHRM students. Out of 196 students, 111 were selected to answer the survey questions by the use of the combination of stratified random sampling and the Slovin’s formula. Results showed that the top three intelligences the respondents have based on their scores are intrapersonal, followed by bodily/kinesthetic and logical/mathematical intelligences; least of the intelligences are verbal/linguistic and visual/spatial.This implied that teaching of Oral Communication should nurture the intrapersonal intelligence and more importantly should enhance and develop the verbal strength of the AHRM students. Teaching should focus more on improving communication skills with others, and not just within themselves.

  19. Neuroticism developmental courses - implications for depression, anxiety and everyday emotional experience; a prospective study from adolescence to young adulthood

    OpenAIRE

    Aldinger, Maren; Stopsack, Malte; Ulrich, Ines; Appel, Katja; Reinelt, Eva; Wolff, Sebastian; Grabe, Hans Jörgen; Lang, Simone; Barnow, Sven

    2014-01-01

    Background: Neuroticism is frequently discussed as a risk factor for psychopathology. According to the maturity principle, neuroticism decreases over the course of life, but not uniformly across individuals. However, the implications of differences in personality maturation on mental health have not been well studied so far. Hence, we hypothesized that different forms of neuroticism development from adolescence to young adulthood are associated with differences in depression, anxiety and ever...

  20. BigR, a Transcriptional Repressor from Plant-Associated Bacteria, Regulates an Operon Implicated in Biofilm Growth▿

    OpenAIRE

    Barbosa, Rosicler L.; Benedetti, Celso E.

    2007-01-01

    Xylella fastidiosa is a plant pathogen that colonizes the xylem vessels, causing vascular occlusion due to bacterial biofilm growth. However, little is known about the molecular mechanisms driving biofilm formation in Xylella-plant interactions. Here we show that BigR (for “biofilm growth-associated repressor”) is a novel helix-turn-helix repressor that controls the transcription of an operon implicated in biofilm growth. This operon, which encodes BigR, membrane proteins, and an unusual beta...

  1. Arab Teens Lifestyle Study (ATLS: objectives, design, methodology and implications

    Directory of Open Access Journals (Sweden)

    Musaiger AO; ATLS Research Group

    2011-12-01

    Full Text Available Hazzaa M Al-Hazzaa1,2, Abdulrahman O Musaiger3, ATLS Research Group1Exercise Physiology Laboratory, Department of Physical Education and Movement Sciences, College of Education, King Saud University, 2Scientific Board, Obesity Research Chair, King Saud University, Riyadh, Saudi Arabia; 3Arab Center for Nutrition, Manama, Bahrain, and Nutrition and Health Studies Unit, Deanship of Scientific Research, University of Bahrain, BahrainBackground: There is a lack of comparable data on physical activity, sedentary behavior, and dietary habits among Arab adolescents, which limits our understanding and interpretation of the relationship between obesity and lifestyle parameters. Therefore, we initiated the Arab Teens Lifestyle Study (ATLS. The ATLS is a multicenter collaborative project for assessing lifestyle habits of Arab adolescents. The objectives of the ATLS project were to investigate the prevalence rates for overweight and obesity, physical activity, sedentary activity and dietary habits among Arab adolescents, and to examine the interrelationships between these lifestyle variables. This paper reports on the objectives, design, methodology, and implications of the ATLS.Design/Methods: The ATLS is a school-based cross-sectional study involving 9182 randomly selected secondary-school students (14–19 years from major Arab cities, using a multistage stratified sampling technique. The participating Arab cities included Riyadh, Jeddah, and Al-Khobar (Saudi Arabia, Bahrain, Dubai (United Arab Emirates, Kuwait, Amman (Jordan, Mosel (Iraq, Muscat (Oman, Tunisia (Tunisia and Kenitra (Morocco. Measured variables included anthropometric measurements, physical activity, sedentary behavior, sleep duration, and dietary habits.Discussion: The ATLS project will provide a unique opportunity to collect and analyze important lifestyle information from Arab adolescents using standardized procedures. This is the first time a collaborative Arab project will

  2. First Amendment Implications of Harassment Rules to Be Studied.

    Science.gov (United States)

    Jaschik, Scott

    1994-01-01

    The Department of Education, criticized by colleges for its guidelines on investigating racial harassment and hate-speech charges, will issue a new policy on First Amendment implications of such inquiries. A major issue is school responsibility for racial harassment by diverse populations over whom colleges may have little control. (MSE)

  3. Gendered risk perceptions associated with human-wildlife conflict: implications for participatory conservation.

    Science.gov (United States)

    Gore, Meredith L; Kahler, Jessica S

    2012-01-01

    This research aims to foster discourse about the extent to which gender is important to consider within the context of participatory approaches for biological conservation. Our objectives are to: (1) gender-disaggregate data about stakeholders' risk perceptions associated with human-wildlife conflict (HWC) in a participatory conservation context, and (2) highlight insights from characterizing gendered similarities and differences in the way people think about HWC-related risks. Two communal conservancies in Caprivi, Namibia served as case study sites. We analyzed data from focus groups (n = 2) to create gendered concept maps about risks to wildlife and livelihoods and any associations of those risks with HWC, and semi-structured interviews (n = 76; men = 38, women = 38) to measure explicit risk attitudes associated with HWC. Concept maps indicated some divergent perceptions in how groups characterized risks to wildlife and livelihoods; however, not only were identified risks to wildlife (e.g., pollution, hunting) dissimilar in some instances, descriptions of risks varied as well. Study groups reported similar risk perceptions associated with HWC with the exception of worry associated with HWC effects on local livelihoods. Gendered differences in risk perceptions may signal different priorities or incentives to participate in efforts to resolve HWC-related risks. Thus, although shared goals and interests may seem to be an obvious reason for cooperative wildlife management, it is not always obvious that management goals are shared. Opportunity exists to move beyond thinking about gender as an explanatory variable for understanding how different groups think about participating in conservation activities. PMID:22403722

  4. Gendered risk perceptions associated with human-wildlife conflict: implications for participatory conservation.

    Directory of Open Access Journals (Sweden)

    Meredith L Gore

    Full Text Available This research aims to foster discourse about the extent to which gender is important to consider within the context of participatory approaches for biological conservation. Our objectives are to: (1 gender-disaggregate data about stakeholders' risk perceptions associated with human-wildlife conflict (HWC in a participatory conservation context, and (2 highlight insights from characterizing gendered similarities and differences in the way people think about HWC-related risks. Two communal conservancies in Caprivi, Namibia served as case study sites. We analyzed data from focus groups (n = 2 to create gendered concept maps about risks to wildlife and livelihoods and any associations of those risks with HWC, and semi-structured interviews (n = 76; men = 38, women = 38 to measure explicit risk attitudes associated with HWC. Concept maps indicated some divergent perceptions in how groups characterized risks to wildlife and livelihoods; however, not only were identified risks to wildlife (e.g., pollution, hunting dissimilar in some instances, descriptions of risks varied as well. Study groups reported similar risk perceptions associated with HWC with the exception of worry associated with HWC effects on local livelihoods. Gendered differences in risk perceptions may signal different priorities or incentives to participate in efforts to resolve HWC-related risks. Thus, although shared goals and interests may seem to be an obvious reason for cooperative wildlife management, it is not always obvious that management goals are shared. Opportunity exists to move beyond thinking about gender as an explanatory variable for understanding how different groups think about participating in conservation activities.

  5. The association between dietary energy density and type 2 diabetes in Europe: results form the EPIC-InterAct Study

    NARCIS (Netherlands)

    The InterAct Consortium, A.; Groenendijk-van Woudenbergh, G.J.; Feskens, E.J.M.

    2013-01-01

    Background Observational studies implicate higher dietary energy density (DED) as a potential risk factor for weight gain and obesity. It has been hypothesized that DED may also be associated with risk of type 2 diabetes (T2D), but limited evidence exists. Therefore, we investigated the association

  6. The Association between Dietary Energy Density and Type 2 Diabetes in Europe : Results from the EPIC-InterAct Study

    NARCIS (Netherlands)

    van den Berg, Saskia W.; van der A, Daphne L.; Spijkerman, Annemieke M. W.; van Woudenbergh, Geertruida J.; Tijhuis, Mariken J.; Amiano, Pilar; Ardanaz, Eva; Beulens, Joline W. J.; Boeing, Heiner; Clavel-Chapelon, Francoise; Crowe, Francesca L.; de Lauzon-Guillain, Blandine; Fagherazzi, Guy; Franks, Paul W.; Freisling, Heinz; Gonzalez, Carlos; Grioni, Sara; Halkjaer, Jytte; Maria Huerta, Jose; Huybrechts, Inge; Kaaks, Rudolf; Khaw, Kay Tee; Masala, Giovanna; Nilsson, Peter M.; Overvad, Kim; Panico, Salvatore; Ramon Quiros, J.; Rolandsson, Olov; Sacerdote, Carlotta; Sanchez, Maria-Jose; Schulze, Matthias B.; Slimani, Nadia; Struijk, Ellen A.; Tjonneland, Anne; Tumino, Rosario; Sharp, Stephen J.; Langenberg, Claudia; Forouhi, Nita G.; Feskens, Edith J. M.; Riboli, Elio; Wareham, Nicholas J.

    2013-01-01

    Background: Observational studies implicate higher dietary energy density (DED) as a potential risk factor for weight gain and obesity. It has been hypothesized that DED may also be associated with risk of type 2 diabetes (T2D), but limited evidence exists. Therefore, we investigated the association

  7. Genome-wide association study identifies five new schizophrenia loci.

    LENUS (Irish Health Repository)

    Ripke, Stephan

    2011-10-01

    We examined the role of common genetic variation in schizophrenia in a genome-wide association study of substantial size: a stage 1 discovery sample of 21,856 individuals of European ancestry and a stage 2 replication sample of 29,839 independent subjects. The combined stage 1 and 2 analysis yielded genome-wide significant associations with schizophrenia for seven loci, five of which are new (1p21.3, 2q32.3, 8p23.2, 8q21.3 and 10q24.32-q24.33) and two of which have been previously implicated (6p21.32-p22.1 and 18q21.2). The strongest new finding (P = 1.6 × 10(-11)) was with rs1625579 within an intron of a putative primary transcript for MIR137 (microRNA 137), a known regulator of neuronal development. Four other schizophrenia loci achieving genome-wide significance contain predicted targets of MIR137, suggesting MIR137-mediated dysregulation as a previously unknown etiologic mechanism in schizophrenia. In a joint analysis with a bipolar disorder sample (16,374 affected individuals and 14,044 controls), three loci reached genome-wide significance: CACNA1C (rs4765905, P = 7.0 × 10(-9)), ANK3 (rs10994359, P = 2.5 × 10(-8)) and the ITIH3-ITIH4 region (rs2239547, P = 7.8 × 10(-9)).

  8. COSMOLOGICAL IMPLICATIONS OF FAST RADIO BURST/GAMMA-RAY BURST ASSOCIATIONS

    International Nuclear Information System (INIS)

    If a small fraction of fast radio bursts (FRBs) are associated with gamma-ray bursts (GRBs), as recently suggested by Zhang, the combination of redshift measurements of GRBs and dispersion measure (DM) measurements of FRBs opens a new window to study cosmology. At z < 2 where the universe is essentially fully ionized, detections of FRB/GRB pairs can give an independent measurement of the intergalactic medium portion of the baryon mass fraction, Ω b f IGM, of the universe. If a good sample of FRB/GRB associations are discovered at higher redshifts, the free electron column density history can be mapped, which can be used to probe the reionization history of both hydrogen and helium in the universe. We apply our formulation to GRBs 101011A and 100704A that each might have an associated FRB, and constrained Ω b f IGM to be consistent with the value derived from other methods. The methodology developed here is also applicable, if the redshifts of FRBs not associated with GRBs can be measured by other means

  9. Mutations in presenilin 2 and its implications in Alzheimer’s disease and other dementia-associated disorders

    Directory of Open Access Journals (Sweden)

    Cai Y

    2015-07-01

    Full Text Available Yan Cai,1 Seong Soo A An,1 SangYun Kim2 1Department of Bionano Technology, Gachon Medical Research Institute, Gachon University, 2Department of Neurology, Seoul National University College of Medicine, Seoul National University Bundang Hospital, Seongnam-si, Gyeonggi-do, South Korea Abstract: Alzheimer’s disease (AD is the most common form of dementia. Mutations in the genes encoding presenilin 1 (PSEN1, presenilin 2 (PSEN2, and amyloid precursor protein have been identified as the main genetic causes of familial AD. To date, more than 200 mutations have been described worldwide in PSEN1, which is highly homologous with PSEN2, while mutations in PSEN2 have been rarely reported. We performed a systematic review of studies describing the mutations identified in PSEN2. Most PSEN2 mutations were detected in European and in African populations. Only two were found in Korean populations. Interestingly, PSEN2 mutations appeared not only in AD patients but also in patients with other disorders, including frontotemporal dementia, dementia with Lewy bodies, breast cancer, dilated cardiomyopathy, and Parkinson’s disease with dementia. Here, we have summarized the PSEN2 mutations and the potential implications of these mutations in dementia-associated disorders. Keywords: mutations in presenilin 2, Alzheimer’s disease

  10. The implications of trade liberalization for diet and health: a case study from Central America

    Directory of Open Access Journals (Sweden)

    Hawkes Corinna

    2009-07-01

    Full Text Available Abstract Background Central America has undergone extensive trade liberalization over the past two decades, and has recently signed a Free Trade Agreement with the United States. The region is also experiencing a dual burden of malnutrition with the growth of dietary patterns associated with the global 'nutrition transition'. This study describes the relationship between trade liberalization policies and food imports and availability, and draws implications for diet and health, using Central America as a case study region. Methods Changes in tariff and non-tariff barriers for each country were documented, and compared with time-series graphs of import, production and availability data to show the outcome of changes in trade policy in relation to food imports and food availability. Results Changes in trade policy in Central America have directly affected food imports and availability via three avenues. First, the lowering of trade barriers has promoted availability by facilitating higher imports of a wide range of foods. Second, trade liberalization has affected food availability through promoting domestic meat production. Third, reductions in barriers to investment appear to be critical in expansion of processed food markets. This suggests that changes in trade policies have facilitated rising availability and consumption of meat, dairy products, processed foods and temperate (imported fruits in Central America. Conclusion This study indicates that the policies of trade liberalization in Central American countries over the past two decades, particularly in relation to the United States, have implications for health in the region. Specifically, they have been a factor in facilitating the "nutrition transition", which is associated with rising rates of obesity and chronic diseases such as cardiovascular disease and cancer. Given the significant cost of chronic disease for the health care system, individuals and the wider community, it is critical

  11. HPV Literacy and Associated Factors Among Hmong American Immigrants: Implications for Reducing Cervical Cancer Disparity.

    Science.gov (United States)

    Beltran, Raiza; Simms, Tina; Lee, Hee Yun; Kwon, Melissa

    2016-06-01

    Previous studies show that certain minority and ethnic communities experience low human papillomavirus (HPV) vaccination rates despite a higher cervical cancer burden. HPV is known to be responsible for almost all cervical cancer cases. Hmong Americans, a growing Asian American population, appear to be at increased risk. The cervical cancer incidence rate among Hmong American women is three times higher than other Asian/Pacific Islanders and more than four times higher than Non-Hispanic Whites. Despite such alarming statistics, there is limited research focusing on HPV literacy and its associated factors in the Hmong American community. This study's objectives are to investigate: (1) the level of HPV knowledge among Hmong Americans; (2) HPV vaccination initiation and completion rates of Hmong Americans; and (3) factors associated with HPV literacy in the Hmong American community. Andersen's Behavioral Model of Health Services Use was used as the study's theoretical framework. A self-administered paper and online health survey was completed by192 Hmong Americans living in a major metropolitan area in Minnesota. Results revealed a mean score of 4.76 (SD 1.67) for the 7-item questionnaire measuring HPV knowledge. The HPV vaccination initiation rate was 46.3 % (n = 56), with 32.7 % completing the recommended three doses. Multiple regression analysis found that participants' level of education, number of doctor visits, and cervical cancer screening literacy were significantly associated with HPV knowledge. This study's results indicate the important role of health providers in educating Hmong Americans patients about HPV and cervical cancer prevention to decrease the cervical cancer burden in this high-risk population. PMID:26696118

  12. Ovarian carcinoma subtypes are different diseases: implications for biomarker studies.

    Directory of Open Access Journals (Sweden)

    Martin Köbel

    2008-12-01

    Full Text Available BACKGROUND: Although it has long been appreciated that ovarian carcinoma subtypes (serous, clear cell, endometrioid, and mucinous are associated with different natural histories, most ovarian carcinoma biomarker studies and current treatment protocols for women with this disease are not subtype specific. With the emergence of high-throughput molecular techniques, distinct pathogenetic pathways have been identified in these subtypes. We examined variation in biomarker expression rates between subtypes, and how this influences correlations between biomarker expression and stage at diagnosis or prognosis. METHODS AND FINDINGS: In this retrospective study we assessed the protein expression of 21 candidate tissue-based biomarkers (CA125, CRABP-II, EpCam, ER, F-Spondin, HE4, IGF2, K-Cadherin, Ki-67, KISS1, Matriptase, Mesothelin, MIF, MMP7, p21, p53, PAX8, PR, SLPI, TROP2, WT1 in a population-based cohort of 500 ovarian carcinomas that was collected over the period from 1984 to 2000. The expression of 20 of the 21 biomarkers differs significantly between subtypes, but does not vary across stage within each subtype. Survival analyses show that nine of the 21 biomarkers are prognostic indicators in the entire cohort but when analyzed by subtype only three remain prognostic indicators in the high-grade serous and none in the clear cell subtype. For example, tumor proliferation, as assessed by Ki-67 staining, varies markedly between different subtypes and is an unfavourable prognostic marker in the entire cohort (risk ratio [RR] 1.7, 95% confidence interval [CI] 1.2%-2.4% but is not of prognostic significance within any subtype. Prognostic associations can even show an inverse correlation within the entire cohort, when compared to a specific subtype. For example, WT1 is more frequently expressed in high-grade serous carcinomas, an aggressive subtype, and is an unfavourable prognostic marker within the entire cohort of ovarian carcinomas (RR 1.7, 95% CI 1

  13. Urban river restoration: implications on channel sedimentation patterns and associated ecosystem and human health

    Science.gov (United States)

    Gibbs, H.; Gurnell, A.; Heppell, K.; Spencer, K.

    2012-04-01

    the restored as opposed to the unrestored stretch at both sites, and this difference persisted after standardisation to loading/m2 of channel to account for differing channel dimensions. Metal concentrations at the two sites were analysed using sediment quality guidelines to assess the potential impact upon both the aquatic ecosystem (Environment Agency draft freshwater quality guidelines, 2008) and human health (Dutch Intervention Values for human, plant and/or animal life, 2009). Greater exceedances occurred for the ecological rather than the human health guidelines. Cu, Ni, Pb and Zn were of greatest concern in terms of ecological sediment quality at Sutcliffe Park and Pb and Zn at Chinbrook Meadows. At Sutcliffe Park a greater proportion of samples exceeded the Predicted Effects Level (PEL) in the restored as opposed to the unrestored stretch; conversely at Chinbrook Meadows a greater proportion of samples in the unrestored stretch as opposed to the restored stretch exceeded the PEL. In terms of human health, exceedances only occurred for Cu and Zn at Sutcliffe Park, with the greater proportion being in the restored stretch. The results from this research will have implications for the design, management and maintenance of restored urban rivers in terms of fine sediment accumulation assessment, its quality and the associated potential impact upon ecosystem and human health.

  14. Substrates and inhibitors of human multidrug resistance associated proteins and the implications in drug development.

    Science.gov (United States)

    Zhou, Shu-Feng; Wang, Lin-Lin; Di, Yuan Ming; Xue, Charlie Changli; Duan, Wei; Li, Chun Guang; Li, Yong

    2008-01-01

    associated with tumor resistance which is often caused by an increased efflux and decreased intracellular accumulation of natural product anticancer drugs and other anticancer agents. Drug targeting of these transporters to overcome MRP/ABCC-mediated multidrug resistance may play a role in cancer chemotherapy. Most MRP/ABCC transporters are subject to inhibition by a variety of compounds. Based on currently available preclinical and limited clinical data, it can be expected that modulation of MRP members may represent a useful approach in the management of anticancer and antimicrobial drug resistance and possibly of inflammatory diseases and other diseases. A better understanding of their substrates and inhibitors has important implications in development of drugs for treatment of cancer and inflammation. PMID:18691054

  15. Clinical implications of serum thrombomodulin in PR3-ANCA-associated vasculitis

    Directory of Open Access Journals (Sweden)

    Zycinska K

    2009-12-01

    Full Text Available Abstract Background Vascular injury is the main mechanism in pathophysiology of PR3-ANCA-associated vasculitis. Soluble serum thrombomodulin (sTM is a membrane-bound receptor for thrombin expressed by vascular endothelial cells. Objective The aim of study was to determine the blood levels of sTM in patients with PR3-ANCA-associated vasculitis. Material and methods Twenty five patients with Wegener's granulomatosis (WG, 13 with generalized WG and 12 with limited WG, with histologically proven disease, and 15 healthy subjects as a control were investigated. An ELISA for detection of sTM and PR3-ANCA was performed. The disease activity was evaluated according to BVAS and DEI indexes. Results Significant increases in sTM were found in both active generalized and limited active WG compared with control values: 108 ± 12, 56 ± 2, and 12 ± 4 ng/ml, respectively. Elevated ANCA titer correlated with disease activity, but more weakly than sTM levels did. Elevated sTM concentration is a result of vascular endothelial injury in the course of PR3-ANCA associated vasculitis. Conclusions Soluble serum thrombomodulin is a promising, both diagnostic and therapeutic, marker of endothelial cell injury in relation to disease activity and progression in autoimmune disorders, reflecting the degree of endothelial cell damage.

  16. Divergent associations of height with cardiometabolic disease and cancer: epidemiology, pathophysiology, and global implications.

    Science.gov (United States)

    Stefan, Norbert; Häring, Hans-Ulrich; Hu, Frank B; Schulze, Matthias B

    2016-05-01

    Among chronic non-communicable diseases, cardiometabolic diseases and cancer are the most important causes of morbidity and mortality worldwide. Although high BMI and waist circumference, as estimates of total and abdominal fat mass, are now accepted as predictors of the increasing incidence of these diseases, adult height, which also predicts mortality, has been neglected. Interestingly, increasing evidence suggests that height is associated with lower cardiometabolic risk, but higher cancer risk, associations supported by mendelian randomisation studies. Understanding the complex epidemiology, biology, and pathophysiology related to height, and its association with cardiometabolic diseases and cancer, is becoming even more important because average adult height has increased substantially in many countries during recent generations. Among the mechanisms driving the increase in height and linking height with cardiometabolic diseases and cancer are insulin and insulin-like growth factor signalling pathways. These pathways are thought to be activated by overnutrition, especially increased intake of milk, dairy products, and other animal proteins during different stages of child development. Limiting overnutrition during pregnancy, early childhood, and puberty would avoid not only obesity, but also accelerated growth in children-and thus might reduce risk of cancer in adulthood. PMID:26827112

  17. Studying risk factors associated with Human Leptospirosis

    Directory of Open Access Journals (Sweden)

    Ramachandra Kamath

    2014-01-01

    Full Text Available Background: Leptospirosis is one of the most under diagnosed and underreported disease in both developed and developing countries including India. It is established that environmental conditions and occupational habit of the individuals put them at risk of acquiring disease, which varies from community to community. Various seroprevalence studies across the world have documented emerging situation of this neglected tropical disease, but limited have probed to identify the risk factors, especially in India. Objectives: The objective of this study was to identify the environmental and occupational risk factors associated with the disease in Udupi District. Materials and Methods: This population-based case-control study was carried out in Udupi, a District in Southern India from April 2012 until August 2012. Udupi is considered to be endemic for Leptospirosis and reported 116 confirmed cases in the year 2011. Seventy of 116 laboratory confirmed cases and 140 sex matched neighborhood healthy controls participated in the study. A predesigned, semi-structured and validated questionnaire was used for data collection through house to house visit and observations were noted about environmental conditions. Univariate analysis followed by multivariate analysis (back ward conditional logistic regression was performed by using STATA version 9.2 (StataCorp, College Station, TX, USA to identify potential risk factors. Results: Occupational factors such as outdoor activities (matched odds ratio [OR] of 3.95, 95% confidence interval [CI]: 1.19-13.0, presence of cut or wound at body parts during work (matched OR: 4.88, CI: 1.83-13.02 and environmental factors such as contact with rodents through using the food materials ate by rat (matched OR: 4.29, CI: 1.45-12.73 and contact with soil or water contaminated with urine of rat (matched OR: 4.58, CI: 1.43-14.67 were the risk factors identified to be associated with disease. Conclusion: Leptospirosis is still

  18. Implication of lipoprotein associated phospholipase A2 activity in oxLDL uptake by macrophages

    OpenAIRE

    Markakis, Konstantinos P.; Koropouli, Maria K.; Grammenou-Savvoglou, Stavroula; van Winden, Ewoud C.; Dimitriou, Andromaxi A.; Demopoulos, Constantinos A.; Tselepis, Alexandros D; Kotsifaki, Eleni E.

    2010-01-01

    Recognition and uptake of oxidized LDL (oxLDL) by scavenger receptors of macrophages and foam cell formation are mediated by the oxidatively modified apolipoprotein B (ApoB) and lipid moiety of oxLDL. A great amount of oxidized phosphatidylcholine (oxPC) of oxLDL is hydrolyzed at the sn-2 position by lipoprotein associated phospholipase A2 (Lp-PLA2) to lysophosphatidylcholine and small oxidation products. This study examines the involvement of Lp-PLA2 in the uptake of oxLDL by mouse peritonea...

  19. Calcium intake and hypertension among obese adults in United States: associations and implications explored.

    Science.gov (United States)

    Chen, Y; Strasser, S; Cao, Y; Wang, K-S; Zheng, S

    2015-09-01

    The relationship between calcium intake and hypertension is receiving increased research attention. The prevalence of hypertension is high among the obese populations. Calcium is a mineral that influences blood pressure. The aim of the study was to examine the association between calcium intake and hypertension in a large nationally representative sample of obese American adults. A total of 14,408 obese adults aged 20 years or older were obtained from the 1999-2010 National Health and Nutrition Examination Survey. Analysis of variance and linear regression models were used to examine relationships between calcium intake and systolic blood pressure (SBP) as well as diastolic blood pressure (DBP). Multiple logistic regression models were used to examine the association between calcium intake and hypertension after adjusting for potential confounders and interactions, including: age, race, education level, alcohol use, smoking, diabetes status, sodium intake and potassium intake. Calcium intake was significantly lower for the hypertensive group compared with the normotensive group (Pobese female young adults aged 20-44 years and among non-diabetic obese adults. Based on ordinary linear regression analysis, a significant inverse relationship was detected, SBP and DBP decreased if calcium intake increased (SBP: regression coefficient estimate=-0.015, Pintake was negatively associated with the probability of hypertension (odds ratio (OR)=0.81, 95% confidence interval (CI): 0.74-0.87, Pintake in youngest adults (age 20-44 years) had the lowest likelihood of hypertension (OR=0.77, 95% CI: 0.64-0.93, Pintake and probability of hypertension was stronger among females (OR: 0.68, 95% CI: 0.55-0.84, Pobese adults. The protective effect of calcium intake and hypertension was found significantly in obese non-diabetic adults (OR: OR=0.77, 95% CI: 0.67-0.89, Pobese diabetic adults. SBP, DBP and calcium intake were log transformed for both ordinary linear regression analysis and

  20. A NOS1 variant implicated in cognitive performance influences evoked neural responses during a high density EEG study of early visual perception.

    LENUS (Irish Health Repository)

    O'Donoghue, Therese

    2012-05-01

    The nitric oxide synthasase-1 gene (NOS1) has been implicated in mental disorders including schizophrenia and variation in cognition. The NOS1 variant rs6490121 identified in a genome wide association study of schizophrenia has recently been associated with variation in general intelligence and working memory in both patients and healthy participants. Whether this variant is also associated with variation in early sensory processing remains unclear.

  1. Spatial scales of foraging in fallow deer: Implications for associational effects in plant defences

    Science.gov (United States)

    Rautio, Pasi; Kesti, Kari; Bergvall, Ulrika A.; Tuomi, Juha; Leimar, Olof

    2008-07-01

    Large herbivores select food at several spatial scales: plant communities are chosen at a landscape scale, plant patches are chosen within a plant community, and individual plants within a patch. Foraging decision at the patch level can result in associational effects in plant communities and populations. Several studies have shown that herbivore attack and consumption rates may not only depend on a plant's own defence traits, but also on the defence traits of its neighbours. In the present experiment we investigated whether the spatial scale of the food distribution affects food selection by fallow deer and whether the foraging behaviour gives rise to associational effects in plant defences. In a population of captured wild fallow deer we simulated a natural situation where two separate plant patches are exposed to intense herbivory pressure. We presented different spatial arrangements of low- and high-tannin food to the deer, varying the frequency of the feeder types within and between patches. We found that the deer consumed palatable food among the unpalatable food on average as much as they consumed palatable food among other palatable feeders. However, when unpalatable food occurred among the palatable food it was more consumed than among other unpalatable feeders. Hence, we did not find support for associational defence, but our results supported associational susceptibility. At the between patch level a patch of mainly high-tannin feeders was consumed less when presented near to a patch of mainly low-tannin feeders, suggesting that for well-defended plants having palatable neighbours in a nearby patch might accentuate the effectiveness of their defence.

  2. Quantifying shark distribution patterns and species-habitat associations: implications of marine park zoning.

    Directory of Open Access Journals (Sweden)

    Mario Espinoza

    Full Text Available Quantifying shark distribution patterns and species-specific habitat associations in response to geographic and environmental drivers is critical to assessing risk of exposure to fishing, habitat degradation, and the effects of climate change. The present study examined shark distribution patterns, species-habitat associations, and marine reserve use with baited remote underwater video stations (BRUVS along the entire Great Barrier Reef Marine Park (GBRMP over a ten year period. Overall, 21 species of sharks from five families and two orders were recorded. Grey reef Carcharhinus amblyrhynchos, silvertip C. albimarginatus, tiger Galeocerdo cuvier, and sliteye Loxodon macrorhinus sharks were the most abundant species (>64% of shark abundances. Multivariate regression trees showed that hard coral cover produced the primary split separating shark assemblages. Four indicator species had consistently higher abundances and contributed to explaining most of the differences in shark assemblages: C. amblyrhynchos, C. albimarginatus, G. cuvier, and whitetip reef Triaenodon obesus sharks. Relative distance along the GBRMP had the greatest influence on shark occurrence and species richness, which increased at both ends of the sampling range (southern and northern sites relative to intermediate latitudes. Hard coral cover and distance across the shelf were also important predictors of shark distribution. The relative abundance of sharks was significantly higher in non-fished sites, highlighting the conservation value and benefits of the GBRMP zoning. However, our results also showed that hard coral cover had a large effect on the abundance of reef-associated shark species, indicating that coral reef health may be important for the success of marine protected areas. Therefore, understanding shark distribution patterns, species-habitat associations, and the drivers responsible for those patterns is essential for developing sound management and conservation

  3. Quantifying shark distribution patterns and species-habitat associations: implications of marine park zoning.

    Science.gov (United States)

    Espinoza, Mario; Cappo, Mike; Heupel, Michelle R; Tobin, Andrew J; Simpfendorfer, Colin A

    2014-01-01

    Quantifying shark distribution patterns and species-specific habitat associations in response to geographic and environmental drivers is critical to assessing risk of exposure to fishing, habitat degradation, and the effects of climate change. The present study examined shark distribution patterns, species-habitat associations, and marine reserve use with baited remote underwater video stations (BRUVS) along the entire Great Barrier Reef Marine Park (GBRMP) over a ten year period. Overall, 21 species of sharks from five families and two orders were recorded. Grey reef Carcharhinus amblyrhynchos, silvertip C. albimarginatus, tiger Galeocerdo cuvier, and sliteye Loxodon macrorhinus sharks were the most abundant species (>64% of shark abundances). Multivariate regression trees showed that hard coral cover produced the primary split separating shark assemblages. Four indicator species had consistently higher abundances and contributed to explaining most of the differences in shark assemblages: C. amblyrhynchos, C. albimarginatus, G. cuvier, and whitetip reef Triaenodon obesus sharks. Relative distance along the GBRMP had the greatest influence on shark occurrence and species richness, which increased at both ends of the sampling range (southern and northern sites) relative to intermediate latitudes. Hard coral cover and distance across the shelf were also important predictors of shark distribution. The relative abundance of sharks was significantly higher in non-fished sites, highlighting the conservation value and benefits of the GBRMP zoning. However, our results also showed that hard coral cover had a large effect on the abundance of reef-associated shark species, indicating that coral reef health may be important for the success of marine protected areas. Therefore, understanding shark distribution patterns, species-habitat associations, and the drivers responsible for those patterns is essential for developing sound management and conservation approaches. PMID

  4. SYSTEMIC INFLAMMATION IMPAIRS ATTENTION AND COGNITIVE FLEXIBILITY BUT NOT ASSOCIATIVE LEARNING IN AGED RATS: Possible Implications for Delirium

    Directory of Open Access Journals (Sweden)

    Deborah J Culley

    2014-06-01

    Full Text Available Delirium is a common and morbid condition in elderly hospitalized patients. Its pathophysiology is poorly understood but inflammation has been implicated based on a clinical association with systemic infection and surgery and preclinical data showing that systemic inflammation adversely affects hippocampus-dependent memory. However, clinical manifestations and imaging studies point to abnormalities not in the hippocampus but in cortical circuits. We therefore tested the hypothesis that systemic inflammation impairs prefrontal cortex function by assessing attention and executive function in aged animals. Aged (24-month-old Fischer-344 rats received a single intraperitoneal injection of lipopolysaccharide (LPS; 50 ug/kg or saline and were tested on the attentional shifting task (AST, an index of integrity of the prefrontal cortex, on days 1-3 post-injection. Plasma and frontal cortex concentrations of the cytokine TNFα and the chemokine CCL2 were measured by ELISA in separate groups of identically treated, age-matched rats. LPS selectively impaired reversal learning and attentional shifts without affecting discrimination learning in the AST, indicating a deficit in attention and cognitive flexibility but not learning globally. LPS increased plasma TNFα and CCL2 acutely but this resolved within 24-48 h. TNFα in the frontal cortex did not change whereas CCL2 increased nearly 3-fold 2 h after LPS but normalized by the time behavioral testing started 24 h later. Together, our data indicate that systemic inflammation selectively impairs attention and executive function in aged rodents and that the cognitive deficit is independent of concurrent changes in frontal cortical TNFα and CCL2. Because inattention is a prominent feature of clinical delirium, our data support a role for inflammation in the pathogenesis of this clinical syndrome and suggest this animal model could be useful for studying that relationship further.

  5. Genome-wide association studies (GWAS) and their importance in asthma.

    Science.gov (United States)

    García-Sánchez, A; Isidoro-García, M; García-Solaesa, V; Sanz, C; Hernández-Hernández, L; Padrón-Morales, J; Lorente-Toledano, F; Dávila, I

    2015-01-01

    Asthma is a complex disease determined by the interaction of different genes and environmental factors. The first genetic investigations in asthma were candidate gene association studies and linkage studies. In recent years research has focused on association studies that scan the entire genome without any prior conditioning hypothesis: the so-called genome-wide association studies (GWAS). The first GWAS was published in 2007, and described a new locus associated to asthma in chromosome 17q12-q21, involving the ORMDL3, GSDMB and ZPBP2 genes (a description of the genes named in the manuscript are listed in Table 1). None of these genes would have been selected in a classical genetic association study since it was not known they could be implicated in asthma. To date, a number of GWAS studies in asthma have been made, with the identification of about 1000 candidate genes. Coordination of the different research groups in international consortiums and the application of new technologies such as new generation sequencing will help discover new implicated genes and improve our understanding of the molecular mechanisms underlying the disease. PMID:25433770

  6. KIR and HLA Genotypes Implicated in Reduced Killer Lymphocytes Immunity Are Associated with Vogt-Koyanagi-Harada Disease.

    Science.gov (United States)

    Levinson, Ralph D; Yung, Madeline; Meguro, Akira; Ashouri, Elham; Yu, Fei; Mizuki, Nobuhisa; Ohno, Shigeaki; Rajalingam, Raja

    2016-01-01

    Cytotoxic T lymphocytes (CTL) and natural killer (NK) cells are killer lymphocytes that provide defense against viral infections and tumor transformation. Analogous to that of CTL, interactions of killer-cell immunoglobulin-like receptors (KIR) with specific human leukocyte antigen (HLA) class I ligands calibrate NK cell education and response. Gene families encoding KIRs and HLA ligands are located on different chromosomes, and feature variation in the number and type of genes. The independent segregation of KIR and HLA genes results in variable KIR-HLA interactions in individuals, which may impact disease susceptibility. We tested whether KIR-HLA combinations are associated with Vogt-Koyanagi-Harada (VKH) disease, a bilateral granulomatous panuveitis that has strong association with HLA-DR4. We present a case control study of 196 VKH patients and 209 controls from a highly homogeneous native population of Japan. KIR and HLA class I genes were typed using oligonucleotide hybridization method and analyzed using two-tailed Fisher's exact probabilities. The incidence of Bx-KIR genotypes was decreased in VKH patients (odds ratio [OR] 0.58, P = 0.007), due primarily to a decrease in centromeric B-KIR motif and its associated KIRs 2DS2, 2DL2, 2DS3, and 2DL5B. HLA-B22, implicated in poor immune response, was increased in VKH (OR = 4.25, P = 0.0001). HLA-Bw4, the ligand for KIR3DL1, was decreased in VKH (OR = 0.59, P = 0.01). The KIR-HLA combinations 2DL2+C1/C2 and 3DL1+Bw4, which function in NK education, were also decreased in VKH (OR = 0.49, P = 0.012; OR = 0.59, P = 0.013). Genotypes missing these two inhibitory KIR-HLA combinations in addition to missing activating KIRs 2DS2 and 2DS3 were more common in VKH (OR = 1.90, P = 0.002). These results suggest that synergistic hyporesponsiveness of NK cells (due to poor NK education along with missing of activating KIRs) and CTL (due to HLA-B22 restriction) fail to mount an effective immune response against viral

  7. KIR and HLA Genotypes Implicated in Reduced Killer Lymphocytes Immunity Are Associated with Vogt-Koyanagi-Harada Disease

    Science.gov (United States)

    Levinson, Ralph D.; Yung, Madeline; Meguro, Akira; Ashouri, Elham; Yu, Fei; Mizuki, Nobuhisa; Ohno, Shigeaki

    2016-01-01

    Cytotoxic T lymphocytes (CTL) and natural killer (NK) cells are killer lymphocytes that provide defense against viral infections and tumor transformation. Analogous to that of CTL, interactions of killer-cell immunoglobulin-like receptors (KIR) with specific human leukocyte antigen (HLA) class I ligands calibrate NK cell education and response. Gene families encoding KIRs and HLA ligands are located on different chromosomes, and feature variation in the number and type of genes. The independent segregation of KIR and HLA genes results in variable KIR-HLA interactions in individuals, which may impact disease susceptibility. We tested whether KIR-HLA combinations are associated with Vogt-Koyanagi-Harada (VKH) disease, a bilateral granulomatous panuveitis that has strong association with HLA-DR4. We present a case control study of 196 VKH patients and 209 controls from a highly homogeneous native population of Japan. KIR and HLA class I genes were typed using oligonucleotide hybridization method and analyzed using two-tailed Fisher’s exact probabilities. The incidence of Bx-KIR genotypes was decreased in VKH patients (odds ratio [OR] 0.58, P = 0.007), due primarily to a decrease in centromeric B-KIR motif and its associated KIRs 2DS2, 2DL2, 2DS3, and 2DL5B. HLA-B22, implicated in poor immune response, was increased in VKH (OR = 4.25, P = 0.0001). HLA-Bw4, the ligand for KIR3DL1, was decreased in VKH (OR = 0.59, P = 0.01). The KIR-HLA combinations 2DL2+C1/C2 and 3DL1+Bw4, which function in NK education, were also decreased in VKH (OR = 0.49, P = 0.012; OR = 0.59, P = 0.013). Genotypes missing these two inhibitory KIR-HLA combinations in addition to missing activating KIRs 2DS2 and 2DS3 were more common in VKH (OR = 1.90, P = 0.002). These results suggest that synergistic hyporesponsiveness of NK cells (due to poor NK education along with missing of activating KIRs) and CTL (due to HLA-B22 restriction) fail to mount an effective immune response against viral

  8. A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy

    Science.gov (United States)

    Villard, Eric; Perret, Claire; Gary, Françoise; Proust, Carole; Dilanian, Gilles; Hengstenberg, Christian; Ruppert, Volker; Arbustini, Eloisa; Wichter, Thomas; Germain, Marine; Dubourg, Olivier; Tavazzi, Luigi; Aumont, Marie-Claude; DeGroote, Pascal; Fauchier, Laurent; Trochu, Jean-Noël; Gibelin, Pierre; Aupetit, Jean-François; Stark, Klaus; Erdmann, Jeanette; Hetzer, Roland; Roberts, Angharad M.; Barton, Paul J.R.; Regitz-Zagrosek, Vera; Aslam, Uzma; Duboscq-Bidot, Laëtitia; Meyborg, Matthias; Maisch, Bernhard; Madeira, Hugo; Waldenström, Anders; Galve, Enrique; Cleland, John G.; Dorent, Richard; Roizes, Gerard; Zeller, Tanja; Blankenberg, Stefan; Goodall, Alison H.; Cook, Stuart; Tregouet, David A.; Tiret, Laurence; Isnard, Richard; Komajda, Michel; Charron, Philippe; Cambien, François

    2011-01-01

    Aims Dilated cardiomyopathy (DCM) is a major cause of heart failure with a high familial recurrence risk. So far, the genetics of DCM remains largely unresolved. We conducted the first genome-wide association study (GWAS) to identify loci contributing to sporadic DCM. Methods and results One thousand one hundred and seventy-nine DCM patients and 1108 controls contributed to the discovery phase. Pools of DNA stratified on disease status, population, age, and gender were constituted and used for testing association of DCM with 517 382 single nucleotide polymorphisms (SNPs). Three DCM-associated SNPs were confirmed by individual genotyping (P < 5.0 10−7), and two of them, rs10927875 and rs2234962, were replicated in independent samples (1165 DCM patients and 1302 controls), with P-values of 0.002 and 0.009, respectively. rs10927875 maps to a region on chromosome 1p36.13 which encompasses several genes among which HSPB7 has been formerly suggested to be implicated in DCM. The second identified locus involves rs2234962, a non-synonymous SNP (c.T757C, p. C151R) located within the sequence of BAG3 on chromosome 10q26. To assess whether coding mutations of BAG3 might cause monogenic forms of the disease, we sequenced BAG3 exons in 168 independent index cases diagnosed with familial DCM and identified four truncating and two missense mutations. Each mutation was heterozygous, present in all genotyped relatives affected by the disease and absent in a control group of 347 healthy individuals, strongly suggesting that these mutations are causing the disease. Conclusion This GWAS identified two loci involved in sporadic DCM, one of them probably implicates BAG3. Our results show that rare mutations in BAG3 contribute to monogenic forms of the disease, while common variant(s) in the same gene are implicated in sporadic DCM. PMID:21459883

  9. Age-associated decreases in human DNA repair capacity: Implications for the skin

    OpenAIRE

    Hadshiew, Ina M.; Eller, Mark S; Gilchrest, Barbara A.

    1999-01-01

    Multiple pathways are involved in accurate synthesis and distribution of DNA during replication, repair and maintenance of genomic integrity. An increased error rate, abovethe spontaneous mutation baseline, has been implicated in carcinogenesis and aging. Moreover, cytogenetic abnormalities are increased in Down’s, Edwards’, Patau’s, and Klinefelter’s syndromes with increasing maternal age, and in Marfan’s and Apert’s syndromes with paternal age. In response to DNA damage, multiple overlappin...

  10. Association of Oxidative Stress to the Genesis of Anxiety: Implications for Possible Therapeutic Interventions

    OpenAIRE

    Hassan, Waseem; Silva, Carlos Eduardo Barroso; Mohammadzai, Imdad Ullah; da Rocha, Joao Batista Teixeira; Landeira-Fernandez, J.

    2014-01-01

    Oxidative stress caused by reactive species, including reactive oxygen species, reactive nitrogen species, and unbound, adventitious metal ions (e.g., iron [Fe] and copper [Cu]), is an underlying cause of various neurodegenerative diseases. These reactive species are an inevitable by-product of cellular respiration or other metabolic processes that may cause the oxidation of lipids, nucleic acids, and proteins. Oxidative stress has recently been implicated in depression and anxiety-related di...

  11. A cross-sectional study of factors associated with adolescent sexual activity

    OpenAIRE

    Shashikumar, R.; R C Das; Prabhu, H. R. A.; K Srivastava; Bhat, P.S.; Prakash, J.; Seema, P.

    2012-01-01

    Context: Adolescents constitute about 20% of our population and increasingly more of them are initiating sexual activity at an early age. Several behaviors associated with adolescence like masturbation, expression of masculinity/femininity, lifestyle habits like attending late night parties, and consumption of alcohol have been variously implicated in initiating sexual activities. Sexual abuse can also lead to premature sexualization. In view of few worthwhile studies from India that have dea...

  12. Prevalence and associated factors of Schistosomiasis among children in Yemen: implications for an effective control programme.

    Directory of Open Access Journals (Sweden)

    Hany Sady

    Full Text Available BACKGROUND: Schistosomiasis, one of the most prevalent neglected tropical diseases, is a life-threatening public health problem in Yemen especially in rural communities. This cross-sectional study aims to determine the prevalence and associated risk factors of schistosomiasis among children in rural Yemen. METHODS/FINDINGS: Urine and faecal samples were collected from 400 children. Urine samples were examined using filtration technique for the presence of Schistosoma haematobium eggs while faecal samples were examined using formalin-ether concentration and Kato Katz techniques for the presence of S. mansoni. Demographic, socioeconomic and environmental information were collected via a validated questionnaire. Overall, 31.8% of the participants were found to be positive for schistosomiasis; 23.8% were infected with S. haematobium and 9.3% were infected with S. mansoni. Moreover, 39.5% of the participants were anaemic whereas 9.5% had hepatosplenomegaly. The prevalence of schistosomiasis was significantly higher among children aged >10 years compared to those aged ≤ 10 years (P<0.05. Multivariate analysis confirmed that presence of other infected family member (P<0.001, low household monthly income (P = 0.003, using unsafe sources for drinking water (P = 0.003, living nearby stream/spring (P = 0.006 and living nearby pool/pond (P = 0.002 were the key factors significantly associated with schistosomiasis among these children. CONCLUSIONS/SIGNIFICANCE: This study reveals that schistosomiasis is still highly prevalent in Yemen. These findings support an urgent need to start an integrated, targeted and effective schistosomiasis control programme with a mission to move towards the elimination phase. Besides periodic drug distribution, health education and community mobilisation, provision of clean and safe drinking water, introduction of proper sanitation are imperative among these communities in order to curtail the transmission and morbidity caused

  13. Entrepreneurship Education at Tertiary Education Level: Implication to Historical Studies

    Directory of Open Access Journals (Sweden)

    Salahu Mohammed Lawal

    2012-07-01

    Full Text Available Nigeria is richly endowed with both human and material resources that when well utilized can make her one of the richest and developed nation in the world.  But poor utilization of the resources, corruption and dwindling fortune in her education system made her among the first twenty five poorest nations in the world.  Similarly, report shows that 26% of the employable population remained unemployed.  This called for the need for entrepreneurship education most especially at tertiary level where high level manpower is supposed to be trained.  It is on this premise that the paper attempts to examine entrepreneurship education and its implication to history students and graduates.

  14. Association studies in late onset sporadic Alzheimer`s disease

    Energy Technology Data Exchange (ETDEWEB)

    Goate, A.M.; Lendon, C.; Talbot, C. [Washington Univ. School of Medicine, St. Louis, MO (United States)] [and others

    1994-09-01

    Alzheimer`s disease (AD) is characterized by an adult onset progressive dementia and the presence of numerous plaques and tangles within the brain at autopsy. The senile plaques are composed of a proteinaceous core surrounded by dystrophic neurites. The major protein component of the core is {beta}-amyloid but antibodies to many other proteins bind to senile plaques, e.g., antibodies to apolioprotein E (ApoE) and to {alpha}1-antichymotrypsin (AACT). Genetic studies have implicated mutations within the {beta}-amyloid precursor protein gene as the cause of AD in a small number of early onset AD families. More recently, assocition studies in late onset AD have demonstrated a positive association between ApoE-{epsilon}4 and AD. We report evidence for a negative association between ApoE-{epsilon}2 and AD in a large sample of sporadic late onset AD cases and matched controls supporting the role of ApoE in the etiology of AD. Ninety-three patients with sporadic AD (average age = 75 years, s.d. 8 yrs.) and 67 normal controls from the same ethnic background (age = 77 yrs., s.d. 10 yrs.) were recruited through the patient registry of the Washington University Alzheimer`s Disease Research Center. We found a statistically significant increase in ApoE-{epsilon}4 allele frequency in patients compared with controls ({chi}{sup 2}=7.75, 1 d.f., one tailed p=0.0027) and a significant decrease in {epsilon}2 allele frequency (Fisher`s exact test, one tailed p=0.0048), whereas the decreased frequency of {epsilon}3 in the patient groups was not statistically significant. Allele {epsilon}2 conferred a strong protective effect in our sample, with the odds ratio for AD for subjects possessing this allele being 0.08 (85% confidence interval 0.01-0.69). Similar studies using a polymorphism within the AACT gene showed no association with alleles at this locus in the entire AD sample or in AD cases homozygous for ApoE-{epsilon}3.

  15. Incidence and clinical implication of nosocomial infections associated with implantable biomaterials – catheters, ventilator-associated pneumonia, urinary tract infections

    Directory of Open Access Journals (Sweden)

    Guggenbichler, Josef Peter

    2011-01-01

    Full Text Available Health care associated infections, the fourth leading cause of disease in industrialised countries, are a major health issue. One part of this condition is based on the increasing insertion and implantation of prosthetic medical devices, since presence of a foreign body significantly reduces the number of bacteria required to produce infection. The most significant hospital-acquired infections, based on frequency and potential severity, are those related to procedures e.g. surgical site infections and medical devices, including urinary tract infection in catheterized patients, pneumonia in patients intubated on a ventilator and bacteraemia related to intravascular catheter use. At least half of all cases of nosocomial infections are associated with medical devices. Modern medical and surgical practices have increasingly utilized implantable medical devices of various kinds. Such devices may be utilized only short-time or intermittently, for months, years or permanently. They improve the therapeutic outcome, save human lives and greatly enhance the quality of life of these patients. However, plastic devices are easily colonized with bacteria and fungi, able to be colonized by microorganisms at a rate of 0.5 cm per hour. A thick biofilm is formed within 24 hours on the entire surface of these plastic devices once inoculated even with a small initial number of bacteria. The aim of the present work is to review the current literature on causes, frequency and preventive measures against infections associated with intravascular devices, catheter-related urinary tract infection, ventilator-associated infection, and infections of other implantable medical devices. Raising awareness for infection associated with implanted medical devices, teaching and training skills of staff, and establishment of surveillance systems monitoring device-related infection seem to be the principal strategies used to achieve reduction and prevention of such infections. The

  16. A study of military recruitment strategies for dentists: possible implications for academia.

    Science.gov (United States)

    Hsu, Ronald H; Roberts, Michael W; Tulloch, J F Camilla; Trotman, Carroll-Ann

    2007-04-01

    Results of the annual American Dental Education Association surveys of dental school seniors show approximately 10 percent of graduates enter federal government services while less than 1 percent enter dental academia. To examine this difference, this study sought the perceptions of senior dental students and junior military dental officers regarding their choice of a military career in order to determine how military recruitment strategies influenced their career decisions. Official documents explaining military recruitment efforts were requested from the military services and summarized. In-depth telephone interviews were conducted to gather perception data from the students and dental officers on successful strategies. By employing several strategies, the military was able to inform potential recruits about the benefits of being a dentist in the military. The opportunity to have the military finance a student's dental education was a successful military recruitment tool. Other enticing factors included guaranteed employment upon graduation, prestige associated with serving in the military, access to postgraduate training, minimal practice management responsibilities, and opportunities to continue learning and improve clinical skills without significant financial implications. It was concluded that dental education can use the same strategies to highlight the benefits of an academic career and offer many similar incentives that may encourage students to consider a career path in dental education. PMID:17468311

  17. Clinicians’ perspectives of health related quality of life (HRQoL) implications of amblyopia: a qualitative study

    Science.gov (United States)

    2011-01-01

    Aims or Purpose The health related quality of life (HRQoL) implications of amblyopia and/or its treatment have been reported. However the clinician’s perspective has not previously been explored. The purpose of this study was to explore the HRQoL implications of amblyopia and/or its treatment from a clinicians’ perspective. Methods Three focus group sessions were conducted with practising orthoptists. Thematic content analysis was undertaken, to identify HRQoL themes associated with amblyopia and/or its treatment. Results Nine HRQoL themes associated with amblyopia and/or its treatment were identified. These included adult quality of life issues; hospital appointments; appearance; glasses-wear; patching treatment; atropine treatment; limited activities; relationships within the family; and treatment compliance. Conclusions The HRQoL implications of amblyopia and/or its treatment was similar to those identified in the literature. Participants acknowledged a change in societal attitudes towards glasses and patching; with glasses becoming more socially acceptable. Further research is needed to explore the exact impact of amblyopia and/or its treatment from both the child and the parental perspective. PMID:22022338

  18. Association study of nonsynonymous single nucleotide polymorphisms in schizophrenia

    DEFF Research Database (Denmark)

    Carrera, Noa; Arrojo, Manuel; Sanjuán, Julio;

    2012-01-01

    Genome-wide association studies using several hundred thousand anonymous markers present limited statistical power. Alternatively, association studies restricted to common nonsynonymous single nucleotide polymorphisms (nsSNPs) have the advantage of strongly reducing the multiple testing problem...

  19. The Danish Association for Science and Technology Studies

    DEFF Research Database (Denmark)

    A presentation of the Danish Association for Science and Technology Studies (DASTS). Organization, experiences, challenges and future developments.......A presentation of the Danish Association for Science and Technology Studies (DASTS). Organization, experiences, challenges and future developments....

  20. Genetics in psychiatry: common variant association studies

    Directory of Open Access Journals (Sweden)

    Buxbaum Joseph D

    2010-03-01

    Full Text Available Abstract Many psychiatric conditions and traits are associated with significant heritability. Genetic risk for psychiatric conditions encompass rare variants, identified due to major effect, as well as common variants, the latter analyzed by association analyses. We review guidelines for common variant association analyses, undertaking after assessing evidence of heritability. We highlight the importance of: suitably large sample sizes; an experimental design that controls for ancestry; careful data cleaning; correction for multiple testing; small P values for positive findings; assessment of effect size for positive findings; and, inclusion of an independent replication sample. We also note the importance of a critical discussion of any prior findings, biological follow-up where possible, and a means of accessing the raw data.

  1. Interpretation of illness in patients with chronic diseases from Shanghai and their associations with life satisfaction, escape from illness, and ability to reflect the implications of illness

    Institute of Scientific and Technical Information of China (English)

    Arndt Bssing; Ariane von Bergh; Xiao-feng Zhai; Chang-quan Ling

    2014-01-01

    OBJECTIVE:The aim of this study is to analyze how patients with chronic diseases from Shanghai interpret their disease, and how these interpretations inlfuence patients’ life satisfaction, intention to escape from their illness and their ability to relfect on the implications of their illness. METHODS:A cross-sectional study enrolling 142 patients (mean age (50 ± 16) years;63%men, 37%women) with chronic diseases (60%cancer) was recruited in the Changhai Hospital of Traditional Chinese Medicine, Shanghai, China and surveyed using standardized questionnaires. RESULTS: Patients with chronic diseases from Shanghai interpreted their illness mostly as an Adverse Interruption of Life (55%), as a Threat/Enemy (50%), but also as a Challenge (49%), and only rarely as a Call for Help (18%) or as a Punishment (13%). Particularly fatalistic negative (i.e., Threat/Enemy, Adverse Interruption of Life) and strategy-associated disease interpretations (i.e., Relieving Break, Call for Help) were moderately associated with patients’ intention to escape from illness. In contrast, positive interpretations (i.e., something of Value, Challenge) and also the guilt-associated negative interpretation Failure were moderately related with patients’ ability to relfect on their illness. However, life satisfaction was weakly associated only with the view that il ness might be a Chal enge. Interestingly, 58%of those who would see their il ness as an Adverse Interruption (AI+) could see it also as a Challenge (Ch+). Detailed analyses showed that AI+Ch+patients differ from their AI+Ch- counterparts signiifcantly with respect to their ability to relfect life and implications of illness (F=9.1;P=0.004). CONCLUSION: The observed interpretations of illness, particularly the negative perceptions, could be used as indicators that patients require further psychological assistance to cope with their burden. Helping AI+patients see their illness also as a Challenge, and thus develop a higher

  2. Examining the association between childhood asthma and parent and grandparent asthma status: Implications for Practice

    OpenAIRE

    Valerio, Melissa A.; Andreski, Patricia M.; Schoeni, Robert F.; McGonagle, Katherine A.

    2010-01-01

    Examination of intergenerational asthma beyond maternal asthma has been limited. The association between childhood asthma and intergenerational asthma status among a national cohort of children was examined.

  3. Restoring Wisconsin Art Therapy Association in Art Therapy History: Implications for Professional Definition and Inclusivity

    Science.gov (United States)

    Potash, Jordan; Burnie, Michele; Pearson, Rosemary; Ramirez, Wayne

    2016-01-01

    The Wisconsin Art Therapy Association (WATA), formally established in 1969, was the first incorporated organization of art therapists in the United States. Under the leadership of Wayne Ramirez, WATA lobbied the national association for an inclusive definition of art therapy that aimed to foster respect for psychiatric, educational, and community…

  4. Contrasting movements and connectivity of reef-associated sharks using acoustic telemetry: implications for management.

    Science.gov (United States)

    Espinoza, Mario; Lédée, Elodie J I; Simpfendorfer, Colin A; Tobin, Andrew J; Heupel, Michelle R

    2015-12-01

    Understanding the efficacy of marine protected areas (MPAs) for wide-ranging predators is essential to designing effective management and conservation approaches. The use of acoustic monitoring and network analysis can improve our understanding of the spatial ecology and functional connectivity of reef-associated species, providing a useful approach for reef-based conservation planning. This study compared and contrasted the movement and connectivity of sharks with different degrees of reef association. We examined the residency, dispersal, degree of reef connectivity, and MPA use of grey reef (Carcharhinus amblyrhynchos), silvertip (C. albimarginatus), and bull (C. leucas) sharks monitored in the central Great Barrier Reef (GBR). An array of 56 acoustic receivers was used to monitor shark movements on 17 semi-isolated reefs. Carcharhinus amblyrhynchos and C. albimarginatus were detected most days at or near their tagging reef. However, while C. amblyrhynchos spent 80% of monitoring days in the array, C. albimarginatus was only detected 50% of the time. Despite both species moving similar distances (Carcharhinus leucas was detected less than 20% of the time within the tagging array, and 42% of the population undertook long-range migrations to other arrays in the GBR. Networks derived for C. leucas were larger and more complex than those for C. amblyrhynchos and C. albimarginatus. Our findings suggest that protecting specific reefs based on prior knowledge (e.g., healthier reefs with high fish biomass) and increasing the level of protection to include nearby, closely spaced reef habitats (< 20 km) may perform better for species like C. albimarginatus than having either a single or a network of isolated MPAs. This design would also provide protection for larger male C. amblyrhynchos, which tend to disperse more and use larger areas than females. For wide-ranging sharks like C. leucas, a combination of spatial planning and other alternative measures is critical. Our

  5. Replication of association between ELAVL4 and Parkinson disease: the GenePD study

    Science.gov (United States)

    DeStefano, Anita L.; Latourelle, Jeanne; Lew, Mark F.; Suchowersky, Oksana; Klein, Christine; Golbe, Lawrence I.; Mark, Margery H.; Growdon, John H.; Wooten, G. Fredrick; Watts, Ray; Guttman, Mark; Racette, Brad A.; Perlmutter, Joel S.; Marlor, Lynn; Shill, Holly A.; Singer, Carlos; Goldwurm, Stefano; Pezzoli, Gianni; Saint-Hilaire, Marie H.; Hendricks, Audrey E.; Gower, Adam; Williamson, Sally; Nagle, Michael W.; Wilk, Jemma B.; Massood, Tiffany; Huskey, Karen W.; Baker, Kenneth B.; Itin, Ilia; Litvan, Irene; Nicholson, Garth; Corbett, Alastair; Nance, Martha; Drasby, Edward; Isaacson, Stuart; Burn, David J.; Chinnery, Patrick F.; Pramstaller, Peter P.; Al-hinti, Jomana; Moller, Anette T.; Ostergaard, Karen; Sherman, Scott J.; Roxburgh, Richard; Snow, Barry; Slevin, John T.; Cambi, Franca; Gusella, James F.; Myers, Richard H.

    2009-01-01

    Genetic variants in embryonic lethal, abnormal vision, Drosophila-like 4 (ELAVL4) have been reported to be associated with onset age of Parkinson disease (PD) or risk for PD affection in Caucasian populations. In the current study we genotyped three single nucleotide polymorphisms in ELAVL4 in a Caucasian study sample consisting of 712 PD patients and 312 unrelated controls from the GenePD study. The minor allele of rs967582 was associated with increased risk of PD (odds ratio = 1.46, nominal P value = 0.011) in the GenePD population. The minor allele of rs967582 was also the risk allele for PD affection or earlier onset age in the previously studied populations. This replication of association with rs967582 in a third cohort further implicates ELAVL4 as a PD susceptibility gene. PMID:18587682

  6. Structural studies of CRISPR-associated proteins

    OpenAIRE

    Reeks, Judith

    2013-01-01

    Clustered regularly interspaced short palindromic repeats (CRISPRs) act to prevent viral infection and horizontal gene transfer in prokaryotes. The genomic CRISPR array contains short sequences (“spacers”) that are derived from foreign genetic elements. The CRISPR array is transcribed and processed into CRISPR RNAs (crRNAs) used in the sequence-specific degradation of foreign nucleic acids. This process is called interference and is mediated by CRISPR-associated (Cas) proteins. This thes...

  7. Recent advances in the study of HPV-associated carcinogenesis

    Institute of Scientific and Technical Information of China (English)

    Liyan; Jin; Zhi-Xiang; Xu

    2015-01-01

    Human papillomaviruses(HPVs) cause virtually all cervical cancers, the second leading cause of death by cancer among women, as well as other anogenital cancers and a subset of head and neck cancers. Approximately half of women, who develop cervical cancer die from it. Despite the optimism that has accompanied the introduction of prophylactic vaccines to prevent some HPV infections, the relatively modest uptake of the vaccine, especially in the developing world, and the very high fraction of men and women who are already infected, means that HPV-associated disease will remain as a significant public health problem for decades. In this review, we summarize some recent findings on HPV-associated carcinogenesis, such as mi RNAs in HPV-associated cancers, implication of stem cells in the biology and therapy of HPV-positive cancers, HPV vaccines, targeted therapy of cervical cancer, and drug treatment for HPV-induced intraepithelial neoplasias.

  8. Epigenome-Wide Association Studies for common human diseases

    OpenAIRE

    Rakyan, Vardhman K; Down, Thomas A; Balding, David J.; Beck, Stephan

    2011-01-01

    Despite the success of genome-wide association studies (GWAS) in identifying loci associated with common diseases, a significant proportion of the causality remains unexplained. Recent advances in genomic technologies have placed us in a position to initiate large-scale studies of human disease-associated epigenetic variation, specifically variation in DNA methylation (DNAm). Such Epigenome-Wide Association Studies (EWAS) present novel opportunities but also create new challenges that are not...

  9. Sea-ice hazards, associated risks and implications for human activities in the Arctic

    Science.gov (United States)

    Eicken, Hajo; Mahoney, Andrew; Jones, Joshua

    2014-05-01

    Polar sea ice serves important functions in the Earth system, including as climate regulator, habitat for diverse biological communities, or substrate and platform for a range of human activities. Subsumed under the concept of sea-ice services, polar ice covers are associated with benefits and risks of harm to ecosystems and people. Recent changes in Arctic ice extent, thickness and mobility have transformed services derived from sea ice. We summarize how these changes have diminished some benefits derived from the ice cover, while increasing others. More important, growing maritime activities in the North and a changing ice cover drive a need for better understanding of sea-ice hazards and the risk they represent in the context of human activities in the Arctic. Three major aspects of this problem are: (1) Broader risks associated with a rapid reduction in summer ice extent, such as geographic shifts in marine ecosystems and warming of submarine permafrost and adjacent land; (2) hazards resulting from changes in sea ice extent and dynamics such as increased coastal erosion and threats to infrastructure; and (3) risks derived from the combination of sea-ice hazards and human activities such as shipping or offshore resource development. Problem (1) is typically seen as a slow-onset hazard that requires a response in the form of mitigation and adaptation. At the same time, the importance of linkages between summer sea-ice reduction to processes outside of the Arctic has only recently emerged (such as atmospheric circulation patterns and extreme weather events) and remains difficult to quantify. Hazards and risks subsumed under (2) and (3) are more localized but with potentially major ecological and socio-economic consequences beyond the Arctic. Drawing on examples from our research in Alaska, we review and illustrate key aspects of sea-ice hazards in terms of risks to ecosystems, people and infrastructure in the coastal zone and Arctic shelf seas. In the Pacific

  10. Certified Health Education Specialists' Participation in Professional Associations: Implications for Marketing and Membership

    Science.gov (United States)

    Thackeray, Rosemary; Neiger, Brad L.; Roe, Kathleen M.

    2005-01-01

    A number of health education professional associations exist to advance the profession through research, practice, and professional development. Benefits of individual membership may include continuing education, networking, leadership, professional recognition, advocacy, professional mobility, access to research findings, advances in the…

  11. Distribution of LGR5+ cells and associated implications during the early stage of gastric tumorigenesis.

    Directory of Open Access Journals (Sweden)

    Bo Gun Jang

    Full Text Available Lgr5 was identified as a promising gastrointestinal tract stem cell marker in mice. Lineage tracing indicates that Lgr5(+ cells may not only be the cells responsible for the origin of tumors; they may also be the so-called cancer stem cells. In the present study, we investigated the presence of Lgr5(+ cells and their biological significance in normal human gastric mucosa and gastric tumors. RNAscope, a newly developed RNA in situ hybridization technique, specifically labeled Lgr5(+ cells at the basal glands of the gastric antrum. Notably, the number of Lgr5(+ cells was remarkably increased in intestinal metaplasia. In total, 76% of gastric adenomas and 43% of early gastric carcinomas were positive for LGR5. Lgr5(+ cells were found more frequently in low-grade tumors with active Wnt signaling and an intestinal gland type, suggesting that LGR5 is likely involved in the very early stages of Wnt-driven tumorigenesis in the stomach. Interestingly, similar to stem cells in normal tissues, Lgr5(+ cells were often restricted to the base of the tumor glands, and such Lgr5(+ restriction was associated with high levels of intestinal stem cell markers such as EPHB2, OLFM4, and ASCL2. Thus, our findings show that Lgr5(+ cells are present at the base of the antral glands in the human stomach and that this cell population significantly expands in intestinal metaplasias. Furthermore, Lgr5(+ cells are seen in a large number of gastric tumors ; their frequent basal arrangements and coexpression of ISC markers support the idea that Lgr5(+ cells act as stem cells during the early stage of intestinal-type gastric tumorigenesis.

  12. A Haplotype Implicated in Schizophrenia Susceptibility Is Associated with Reduced COMT Expression in Human Brain

    OpenAIRE

    Bray, Nicholas J.; Buckland, Paul R.; Williams, Nigel M.; Williams, Hywel J.; Norton, Nadine; Owen, Michael J; O’Donovan, Michael C

    2003-01-01

    The gene encoding catechol-O-methyltransferase (COMT) is a strong candidate for schizophrenia susceptibility, owing to the role of COMT in dopamine metabolism, and the location of the gene within the deleted region in velocardiofacial syndrome, a disorder associated with high rates of schizophrenia. Recently, a highly significant association was reported between schizophrenia and a COMT haplotype in a large case-control sample (Shifman et al. 2002). In addition to a functional valine→methioni...

  13. Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses.

    Science.gov (United States)

    Gilman SR; Iossifov I; Levy D; Ronemus M; Wigler M; Vitkup D

    2011-06-09

    Identification of complex molecular networks underlying common human phenotypes is a major challenge of modern genetics. In this study, we develop a method for network-based analysis of genetic associations (NETBAG). We use NETBAG to identify a large biological network of genes affected by rare de novo CNVs in autism. The genes forming the network are primarily related to synapse development, axon targeting, and neuron motility. The identified network is strongly related to genes previously implicated in autism and intellectual disability phenotypes. Our results are also consistent with the hypothesis that significantly stronger functional perturbations are required to trigger the autistic phenotype in females compared to males. Overall, the presented analysis of de novo variants supports the hypothesis that perturbed synaptogenesis is at the heart of autism. More generally, our study provides proof of the principle that networks underlying complex human phenotypes can be identified by a network-based functional analysis of rare genetic variants.

  14. Coaches' implicit associations between size and giftedness: implications for the relative age effect.

    Science.gov (United States)

    Furley, Philip; Memmert, Daniel

    2016-01-01

    The relative age effect (RAE) is a well-established phenomenon in education and sports. Coaches have been assumed to be important social agents of RAE via biased selection decisions in favour of children with maturation advantages. In the present research, we used the Implicit Association Test to investigate automatic associations between body size and a player's domain-specific giftedness amongst youth baseball (N = 18) and youth soccer coaches (N = 34). We found medium to strong automatic associations between body size and player giftedness (baseball: MD = 0.62; soccer: MD = 0.51). Specifically, taller players were associated with positive performance-related attributes, whereas smaller players were associated with negative attributes. The results are in line with theories of grounded cognition by showing that the abstract concept of "sport giftedness" is partly grounded in the perception of physical height amongst youth sports coaches. We argue that this grounded cognition has the potential to influence coaches' selection decisions and in turn account for RAE as coaches are biased towards physically more matured players, even when no apparent performance advantage is evident. PMID:26096053

  15. Community College Study Abroad: Implications for Student Success

    Science.gov (United States)

    Raby, Rosalind Latiner; Rhodes, Gary M.; Biscarra, Albert

    2014-01-01

    The aim of this research is to explore whether participation in study abroad by community college students impacts levels of engagement and if there is a connection between studying abroad and academic achievement. While university-level studies have a history in exploring these questions, the same is not true for community colleges. The…

  16. Genome-wide association study of multiplex schizophrenia pedigrees

    DEFF Research Database (Denmark)

    Levinson, Douglas F; Shi, Jianxin; Wang, Kai;

    2012-01-01

    The authors used a genome-wide association study (GWAS) of multiply affected families to investigate the association of schizophrenia to common single-nucleotide polymorphisms (SNPs) and rare copy number variants (CNVs)....

  17. Genome-wide Association Scan for Childhood Caries Implicates Novel Genes

    OpenAIRE

    Shaffer, J.R.; Wang, X.; Feingold, E.; M. Lee; Begum, F.; Weeks, D. E.; Cuenco, K.T.; Barmada, M M; Wendell, S.K.; Crosslin, D R; Laurie, C. C.; Doheny, K F; Pugh, E W; Zhang, Q.; Feenstra, B

    2011-01-01

    Dental caries is the most common chronic disease in children and a major public health concern due to its increasing incidence, serious health and social co-morbidities, and socio-demographic disparities in disease burden. We performed the first genome-wide association scan for dental caries to identify associated genetic loci and nominate candidate genes affecting tooth decay in 1305 US children ages 3-12 yrs. Affection status was defined as 1 or more primary teeth with evidence of decay bas...

  18. Implications of Queer Theory for the Study of Religion and Gender: Entering the Third Decade

    Directory of Open Access Journals (Sweden)

    Claudia Schippert

    2011-08-01

    Full Text Available This essay explores the conceptual and contextual shifts in queer theoretical work as it is entering into its third decade of articulation. The essay reviews important recent themes in, and examines implications of, queer theoretical scholarship for the study of religion and gender. I suggest that among the implications are a (more undisciplined study of religion (and secularism that takes seriously shifts resulting from transnational and diasporic queer scholarship, shifts in conceptions of agency and resistance resulting from analyses  and critique of homonormative positions, and can critically intervene in homonationalism and Islamophobia.

  19. Genome-wide association study identifies novel loci association with fasting insulin and insulin resistance in African Americans.

    Science.gov (United States)

    Chen, Guanjie; Bentley, Amy; Adeyemo, Adebowale; Shriner, Daniel; Zhou, Jie; Doumatey, Ayo; Huang, Hanxia; Ramos, Edward; Erdos, Michael; Gerry, Norman; Herbert, Alan; Christman, Michael; Rotimi, Charles

    2012-10-15

    Insulin resistance (IR) is a key determinant of type 2 diabetes (T2D) and other metabolic disorders. This genome-wide association study (GWAS) was designed to shed light on the genetic basis of fasting insulin (FI) and IR in 927 non-diabetic African Americans. 5 396 838 single-nucleotide polymorphisms (SNPs) were tested for associations with FI or IR with adjustments for age, sex, body mass index, hypertension status and first two principal components. Genotyped SNPs (n = 12) with P KLF14 and PPARG) which exert their action via IR. In summary, variants in/near SC4MOL, and TCERG1L were associated with FI and IR in this cohort of African Americans and were replicated in West Africans. SC4MOL is under-expressed in an animal model of T2D and plays a key role in lipid biosynthesis, with implications for the regulation of energy metabolism, obesity and dyslipidemia. TCERG1L is associated with plasma adiponectin, a key modulator of obesity, inflammation, IR and diabetes. PMID:22791750

  20. Association of obesity with vitamin D deficiency and the clinical implications

    Directory of Open Access Journals (Sweden)

    Anitha Oommen

    2015-11-01

    Conclusions: No significant association was found between obesity and vitamin D deficiency indicating that vitamin D deficiency has no significant role in causing obesity in Saudi women above 40 years. [Int J Res Med Sci 2015; 3(11.000: 3262-3265

  1. Association between depression and development of coronary artery disease: pathophysiologic and diagnostic implications

    Directory of Open Access Journals (Sweden)

    Carlos V Serrano Jr

    2011-03-01

    Full Text Available Carlos V Serrano Jr1, Karina Tiemi Setani2, Erica Sakamoto2, Anna Maria Andrei3, Renério Fraguas41Heart Institute (InCor, 2Medical School, University of São Paulo, Brazil; 3Albert Einstein Hospital, São Paulo, Brazil; 4Department and Institute of Psychiatry, Medical School, University of São Paulo, BrazilAbstract: Depression and coronary artery disease (CAD are both extremely prevalent diseases. In addition, compromised quality of life and life expectancy are characteristics of both situations. There are several conditions that aggravate depression and facilitate the development of CAD, as well as provoke a worse prognosis in patients with already established CAD: inferior adherence to medical orientations (medications and life style modifications, greater platelet activation and aggregation, endothelial dysfunction, and impaired autonomic dysfunction (lowered heart rate variability. Recent literature has shown that depression alone is becoming an independent risk factor for cardiac events both in primary and secondary prevention. As the diagnosis of depression in patients with heart disease is difficult, due to similarities of symptoms, the health professional should perform a careful evaluation to differentiate the clinical signs of depression from those related with general heart diseases. After a myocardial infarction, depression is an independent risk factor for mortality. Successful therapy of depression has been shown to improve patients’ quality of life and cardiovascular outcome. However, multicentric clinical trials are needed to support this inference. A practical liaison between qualified professionals is necessary for the better management of depressed patients with excess risk in developing CAD. Accordingly, pathophysiological and clinical implications between depression and CAD are discussed in this article.Keywords: depression, coronary artery disease, behavioral disorders, prognosis

  2. Genome-wide association study of autistic-like traits in a general population study of young adults

    Directory of Open Access Journals (Sweden)

    Rachel Maree Jones

    2013-10-01

    Full Text Available Research has proposed that autistic-like traits in the general population lie on a continuum, with clinical Autism Spectrum Disorder (ASD representing the extreme end of this distribution. Inherent in this proposal is that biological mechanisms associated with clinical ASD may also underpin variation in autistic-like traits within the general population. A genome-wide association study using 2,462,046 single nucleotide polymorphisms (SNPs was undertaken for ASD in 965 individuals from the Western Australian Pregnancy Cohort (Raine Study. No SNP associations reached genome-wide significance (p < 5.0 x 10-8. However, investigations into nominal observed SNP associations (p < 1.0 x 10-5 add support to two positional candidate genes previously implicated in ASD aetiology, PRKCB1 and CBLN1.The rs198198 SNP (p = 9.587 x 10-6, is located within an intron of the protein kinase C, beta 1 (PRKCB1 gene on chromosome 16p11. The PRKCB1 gene has been previously reported in linkage and association studies for ASD, and its mRNA expression has been shown to be significantly down regulated in ASD cases compared with controls. The rs16946931 SNP (p = 1.78 x 10-6 is located in a region flanking the Cerebellin 1 (CBLN1 gene on chromosome 16q12.1. The CBLN1 gene is involved with synaptogenesis and is part of a gene family previously implicated in ASD. This GWA study is only the second to examine SNPs associated with autistic-like traits in the general population, and provides evidence to support roles for the PRKCB1 and CBLN1 genes in risk of clinical ASD.

  3. Associated disease risk from the introduced generalist pathogen Sphaerothecum destruens: management and policy implications.

    Science.gov (United States)

    Andreou, Demetra; Gozlan, Rodolphe Elie

    2016-08-01

    The rosette agent Sphaerothecum destruens is a novel pathogen, which is currently believed to have been introduced into Europe along with the introduction of the invasive fish topmouth gudgeon Pseudorasbora parva (Temminck & Schlegel, 1846). Its close association with P. parva and its wide host species range and associated host mortalities, highlight this parasite as a potential source of disease emergence in European fish species. Here, using a meta-analysis of the reported S. destruens prevalence across all reported susceptible hosts species; we calculated host-specificity providing support that S. destruens is a true generalist. We have applied all the available information on S. destruens and host-range to an established framework for risk-assessing non-native parasites to evaluate the risks posed by S. destruens and discuss the next steps to manage and prevent disease emergence of this generalist parasite. PMID:27216376

  4. Factors associated with female genital mutilation in Burkina Faso and its policy implications

    OpenAIRE

    Karmaker, Bue; Kandala, Ngianga-Bakwin; Chung, Donna; Clarke, Aileen

    2011-01-01

    Background Female genital mutilation (FGM) usually undertaken between the ages of 1-9 years and is widely practised in some part of Africa and by migrants from African countries in other parts of the world. Laws prohibit FGM in almost every country. FGM can cause immediate complications (pain, bleeding and infection) and delayed complications (sexual, obstetric, psychological problems). Several factors have been associated with an increased likelihood of FGM. In Burkina Faso, the prevalence o...

  5. Factors associated with female genital mutilation in Burkina Faso and its policy implications

    OpenAIRE

    Chung Donna; Kandala Ngianga-Bakwin; Karmaker Bue; Clarke Aileen

    2011-01-01

    Abstract Background Female genital mutilation (FGM) usually undertaken between the ages of 1-9 years and is widely practised in some part of Africa and by migrants from African countries in other parts of the world. Laws prohibit FGM in almost every country. FGM can cause immediate complications (pain, bleeding and infection) and delayed complications (sexual, obstetric, psychological problems). Several factors have been associated with an increased likelihood of FGM. In Burkina Faso, the pre...

  6. Foraging Strategies of Laysan Albatross Inferred from Stable Isotopes: Implications for Association with Fisheries.

    Directory of Open Access Journals (Sweden)

    Ann E Edwards

    Full Text Available Fatal entanglement in fishing gear is the leading cause of population decline for albatross globally, a consequence of attraction to bait and fishery discards of commercial fishing operations. We investigated foraging strategies of Laysan albatross (Phoebastria immutabilis, as inferred from nitrogen and carbon isotope values of primary feathers, to determine breeding-related, seasonal, and historic factors that may affect the likelihood of association with Alaskan or Hawaiian longline fisheries. Feather samples were collected from live birds monitored for breeding status and breeding success on Midway Atoll in the northwestern Hawaiian Islands, birds salvaged as fisheries-bycatch, and birds added to museum collections before 1924. During the chick-rearing season (sampled April-May, means and variances of stable isotope values of birds with the highest, most consistent reproductive success were distinct from less productive conspecifics and completely different from birds caught in Hawaiian or Alaskan longline fisheries, suggesting birds with higher multi-annual reproductive success were less likely to associate with these fisheries. Contemporary birds with the highest reproductive success had mean values most similar to historic birds. Values of colony-bound, courting prebreeders were similar to active breeders but distinct from prebreeders caught in Alaskan longline fisheries. During the breeding season, δ15N values were highly variable for both contemporary and historic birds. Although some historic birds exhibited extremely low δ15N values unmatched by contemporary birds (< 11.2‰, others had values as high as the highest fishery-associated contemporary birds. During the non-breeding season (sampled July-September, isotopic variability coalesced into a more narrow set of values for both contemporary and historic birds. Our results suggest that foraging strategies of Laysan albatross are a complex function of season, breeding status, and

  7. HIV-associated obstructive lung diseases: insights and implications for the clinician

    OpenAIRE

    Drummond, M Bradley; Kirk, Gregory D

    2014-01-01

    The effectiveness of antiretroviral therapy to control HIV infection has led to the emergence of an older HIV population who are at risk of chronic diseases. Through a comprehensive search of major databases, this Review summarises information about the associations between chronic obstructive pulmonary disease (COPD), asthma, and HIV infection. Asthma and COPD are more prevalent in HIV-infected populations; 16–20% of individuals with HIV infection have asthma or COPD, and poorly controlled H...

  8. Gendered Risk Perceptions Associated with Human-Wildlife Conflict: Implications for Participatory Conservation

    OpenAIRE

    Gore, Meredith L.; Kahler, Jessica S.

    2012-01-01

    This research aims to foster discourse about the extent to which gender is important to consider within the context of participatory approaches for biological conservation. Our objectives are to: (1) gender-disaggregate data about stakeholders' risk perceptions associated with human-wildlife conflict (HWC) in a participatory conservation context, and (2) highlight insights from characterizing gendered similarities and differences in the way people think about HWC-related risks. Two communal c...

  9. Exploring membrane-associated NAC transcription factors in Arabidopsis: implications for membrane biology in genome regulation

    OpenAIRE

    Kim, Sun-Young; Kim, Sang-Gyu; Kim, Youn-Sung; Seo, Pil Joon; Bae, Mikyoung; Yoon, Hye-Kyung; Park, Chung-Mo

    2006-01-01

    Controlled proteolytic cleavage of membrane-associated transcription factors (MTFs) is an intriguing activation strategy that ensures rapid transcriptional responses to incoming stimuli. Several MTFs are known to regulate diverse cellular functions in prokaryotes, yeast, and animals. In Arabidopsis, a few NAC MTFs mediate either cytokinin signaling during cell division or endoplasmic reticulum (ER) stress responses. Through genome-wide analysis, it was found that at least 13 members of the NA...

  10. Association of CK2 with Polycomb complexes and its functional implications

    OpenAIRE

    Chandler, H.

    2013-01-01

    Polycomb group (PcG) proteins are important for establishing the patterns of gene expression in different cell types and are critical for the maintenance of pluripotency. They participate in multi-component complexes, such as Polycomb repressive complex 1 (PRC1), which modify, and bind to, histone tails. A number of auxiliary proteins consistently associate with PRC1, including the three subunits of protein kinase CK2 (CK2). The work described in this thesis investigates the interaction of CK...

  11. Associations between ectomycorrhizal fungi and bacterial needle endophytes in Pinus radiata: implications for biotic selection of microbial communities

    OpenAIRE

    Megan Arlene Rúa; Emily Catherine Wilson; Sarah eSteele; Munters, Arielle R.; Hoeksema, Jason D.; Carolin eFrank

    2016-01-01

    Studies of the ecological and evolutionary relationships between plants and their associated microbes have long been focused on single microbes, or single microbial guilds, but in reality, plants associate with a diverse array of microbes from a varied set of guilds. As such, multitrophic interactions among plant-associated microbes from multiple guilds represent an area of developing research, and can reveal how complex microbial communities are structured around plants. Interactions between...

  12. The role of associative and non-associative learning in the training of horses and implications for the welfare (a review).

    Science.gov (United States)

    Baragli, Paolo; Padalino, Barbara; Telatin, Angelo

    2015-01-01

    Horses were domesticated 6000 years ago and since then different types of approaches have been developed to enhance the horse's wellbeing and the human-horse relationship. Even though horse training is an increasingly important research area and many articles have been published on the subject, equitation is still the sport with the highest rate of human injuries, and a significant percentage of horses are sold or slaughtered due to behavioral problems. One explanation for this data is that the human-horse relationship is complex and the communication between humans and horses has not yet been accurately developed. Thus, this review addresses correct horse training based on scientific knowledge in animal learning and psychology. Specifically, it starts from the basic communication between humans and horses and then focuses on associative and non-associative learning, with many practical outcomes in horse management from the ground and under saddle. Finally, it highlights the common mistakes in the use of negative reinforcement, as well as all the implications that improper training could have on horse welfare. Increased levels of competence in horse training could be useful for equine technicians, owners, breeders, veterinarians, and scientists, in order to safeguard horse welfare, and also to reduce the number of human injuries and economic loss for civil society and the public health system. PMID:25857383

  13. The role of associative and non-associative learning in the training of horses and implications for the welfare (a review

    Directory of Open Access Journals (Sweden)

    Paolo Baragli

    2015-03-01

    Full Text Available Horses were domesticated 6000 years ago and since then different types of approaches have been developed to enhance the horse's wellbeing and the human-horse relationship. Even though horse training is an increasingly important research area and many articles have been published on the subject, equitation is still the sport with the highest rate of human injuries, and a significant percentage of horses are sold or slaughtered due to behavioral problems. One explanation for this data is that the human-horse relationship is complex and the communication between humans and horses has not yet been accurately developed. Thus, this review addresses correct horse training based on scientific knowledge in animal learning and psychology. Specifically, it starts from the basic communication between humans and horses and then focuses on associative and non-associative learning, with many practical outcomes in horse management from the ground and under saddle. Finally, it highlights the common mistakes in the use of negative reinforcement, as well as all the implications that improper training could have on horse welfare. Increased levels of competence in horse training could be useful for equine technicians, owners, breeders, veterinarians, and scientists, in order to safeguard horse welfare, and also to reduce the number of human injuries and economic loss for civil society and the public health system.

  14. Association between arterial stiffness and atherosclerosis: the Rotterdam Study

    NARCIS (Netherlands)

    N.M-L. van Popele (Nicole); D.E. Grobbee (Diederick); M.L. Bots (Michiel); R. Asmar (Roland); J. Topouchian; R.S. Reneman; A.P.G. Hoeks; D.A. van der Kuip (Deirdre); J.C.M. Witteman (Jacqueline); A. Hofman (Albert)

    2001-01-01

    textabstractBACKGROUND AND PURPOSE: Studies of the association between arterial stiffness and atherosclerosis are contradictory. We studied stiffness of the aorta and the common carotid artery in relation to several indicators of atherosclerosis. METHODS: This study was conducted w

  15. Chronic heart failure in Japan: Implications of the CHART studies

    Directory of Open Access Journals (Sweden)

    Nobuyuki Shiba

    2008-03-01

    Full Text Available Nobuyuki Shiba, Hiroaki ShimokawaDepartment of Cardiovascular Medicine, Department of Evidence-Based Cardiovascular Medicine, Tohoku University Graduate School of Medicine, Sendai City, JapanAbstract: The prognosis of patients with chronic heart failure (CHF still remains poor, despite the recent advances in medical and surgical treatment. Furthermore, CHF is a major public health problem in most industrialized countries where the elderly population is rapidly increasing. Although the prevalence and mortality of CHF used to be relatively low in Japan, the disorder has been markedly increasing due to the rapid aging of the society and the Westernization of lifestyle that facilitates the development of coronary artery disease. The Chronic Heart Failure Analysis and Registry in the Tohoku District (CHART-1 study was one of the largest cohorts in Japan. The study has clarified the characteristics and prognosis of Japanese patients with CHF, demonstrating that their prognosis was similarly poor compared with those in Western countries. However, we still need evidence for the prevention and treatment of CHF based on the large cohort studies or randomized treatment trials in the Japanese population. Since the strategy for CHF management is now changing from treatment to prevention, a larger-size prospective cohort, called the CHART-2 study, has been initiated to evaluate the risk factors of CHF in Japan. This review summarizes the current status of CHF studies in Japan and discusses their future perspectives.Keywords: heart failure, aging, Japanese

  16. Functional implications of hippocampal degeneration in early Alzheimer's disease: a combined DTI and PET study

    International Nuclear Information System (INIS)

    Hypometabolism of the posterior cingulate cortex (PCC) in early Alzheimer's disease (AD) is thought to arise in part due to AD-specific neuronal damage to the hippocampal formation. Here, we explored the association between microstructural alterations within the hippocampus and whole-brain glucose metabolism in subjects with AD, also in relation to episodic memory impairment. Twenty patients with early AD (Mini-Mental State Examination 25.7 ± 1.7) were studied with [18F]fluorodeoxyglucose (FDG) positron emission tomography and diffusion tensor imaging. Episodic memory performance was assessed using the free delayed verbal recall task (DVR). Voxel-wise relative FDG uptake was correlated to diffusivity indices of the hippocampus, followed by extraction of FDG uptake values from significant clusters. Linear regression analysis was performed to test for unique contributions of diffusivity and metabolic indices in the prediction of memory function. Diffusivity in the left anterior hippocampus negatively correlated with FDG uptake primarily in the left anterior hippocampus, parahippocampal gyrus and the PCC (p< 0.005). The same correlation pattern was found for right hippocampal diffusivity (p< 0.05). In linear regression analysis, left anterior hippocampal diffusivity and FDG uptake from the PCC cluster were the only significant predictors for performance on DVR, together explaining 60.6% of the variance. We found an inverse association between anterior hippocampal diffusivity and PCC glucose metabolism, which was in turn strongly related to episodic memory performance in subjects with early AD. These findings support the diaschisis hypothesis of AD and implicate a dysfunction of structures along the hippocampal output pathways as a significant contributor to the genesis of episodic memory impairment. (orig.)

  17. Savant Syndrome: Case Studies, Hypotheses, and Implications for Special Education.

    Science.gov (United States)

    Cheatham, Susan Klug; And Others

    1995-01-01

    The concept of savant syndrome, encompassing those individuals historically known as "idiot savants," is reviewed. Case studies demonstrating special abilities in the areas of calendar calculating, musical ability, artistic talent, memorization, mathematical skills, mechanical achievement, and fine sensory discrimination are discussed, as well as…

  18. Implications of recent multimodel attribution studies for climate sensitivity

    Science.gov (United States)

    Lewis, Nicholas

    2016-03-01

    Equilibrium climate sensitivity (ECS) is inferred from estimates of instrumental-period warming attributable solely to greenhouse gases (AW), as derived in two recent multi-model detection and attribution (D&A) studies that apply optimal fingerprint methods with high spatial resolution to 3D global climate model simulations. This approach minimises the key uncertainty regarding aerosol forcing without relying on low-dimensional models. The "observed" AW distributions from the D&A studies together with an observationally-based estimate of effective planetary heat capacity (EHC) are applied as observational constraints in (AW, EHC) space. By varying two key parameters—ECS and effective ocean diffusivity—in an energy balance model forced solely by greenhouse gases, an invertible map from the bivariate model parameter space to (AW, EHC) space is generated. Inversion of the constrained (AW, EHC) space through a transformation of variables allows unique recovery of the observationally-constrained joint distribution for the two model parameters, from which the marginal distribution of ECS can readily be derived. The method is extended to provide estimated distributions for transient climate response (TCR). The AW distributions from the two D&A studies produce almost identical results. Combining the two sets of results provides best estimates (5-95 % ranges) of 1.66 (0.7-3.2) K for ECS and 1.37 (0.65-2.2) K for TCR, in line with those from several recent studies based on observed warming from all causes but with tighter uncertainty ranges than for some of those studies. Almost identical results are obtained from application of an alternative profile likelihood statistical methodology.

  19. CCNA Cisco Certified Network Associate Study Guide

    CERN Document Server

    Lammle, Todd

    2011-01-01

    Learn from the Best - Cisco Networking Authority Todd LammleWritten by Cisco networking authority Todd Lammle, this comprehensive guide has been completely updated to reflect the latest CCNA 640-802 exam. Todd's straightforward style provides lively examples, hands on and written labs, easy-to-understand analogies, and real-world scenarios that will not only help you prepare for the exam, but also give you a solid foundation as a Cisco networking professional.This Study Guide teaches you how toDescribe how a network worksConfigure, verify and troubleshoot a switch with VLANs and interswitch co

  20. Generic information can retrieve known biological associations: implications for biomedical knowledge discovery.

    Directory of Open Access Journals (Sweden)

    Herman H H B M van Haagen

    Full Text Available MOTIVATION: Weighted semantic networks built from text-mined literature can be used to retrieve known protein-protein or gene-disease associations, and have been shown to anticipate associations years before they are explicitly stated in the literature. Our text-mining system recognizes over 640,000 biomedical concepts: some are specific (i.e., names of genes or proteins others generic (e.g., 'Homo sapiens'. Generic concepts may play important roles in automated information retrieval, extraction, and inference but may also result in concept overload and confound retrieval and reasoning with low-relevance or even spurious links. Here, we attempted to optimize the retrieval performance for protein-protein interactions (PPI by filtering generic concepts (node filtering or links to generic concepts (edge filtering from a weighted semantic network. First, we defined metrics based on network properties that quantify the specificity of concepts. Then using these metrics, we systematically filtered generic information from the network while monitoring retrieval performance of known protein-protein interactions. We also systematically filtered specific information from the network (inverse filtering, and assessed the retrieval performance of networks composed of generic information alone. RESULTS: Filtering generic or specific information induced a two-phase response in retrieval performance: initially the effects of filtering were minimal but beyond a critical threshold network performance suddenly drops. Contrary to expectations, networks composed exclusively of generic information demonstrated retrieval performance comparable to unfiltered networks that also contain specific concepts. Furthermore, an analysis using individual generic concepts demonstrated that they can effectively support the retrieval of known protein-protein interactions. For instance the concept "binding" is indicative for PPI retrieval and the concept "mutation abnormality" is

  1. Association of a centromere specific nucleosome with the yeast plasmid partitioning locus: Implications beyond plasmid partitioning

    OpenAIRE

    Jayaram, Makkuni

    2011-01-01

    The genetically defined point centromeres of budding yeasts and the epigenetically specified regional centromeres of all other eukaryotes harbor a common epigenetic mark in the form of a non-standard nucleosome. Although, the composition of the protein core of the centromere specific nucleosome and the nature of the DNA wrap around it are at present controversial, there is no doubt that this specialized nucleosome harbors a variant of the standard histone H3 (cenH3). The association of cenH3,...

  2. Chronic insomnia is associated with nyctohemeral activation of the hypothalamic-pituitary-adrenal axis: clinical implications.

    Science.gov (United States)

    Vgontzas, A N; Bixler, E O; Lin, H M; Prolo, P; Mastorakos, G; Vela-Bueno, A; Kales, A; Chrousos, G P

    2001-08-01

    Although insomnia is, by far, the most commonly encountered sleep disorder in medical practice, our knowledge in regard to its neurobiology and medical significance is limited. Activation of the hypothalamic-pituitary-adrenal axis leads to arousal and sleeplessness in animals and humans; however, there is a paucity of data regarding the activity of the hypothalamic-pituitary-adrenal axis in insomniacs. We hypothesized that chronic insomnia is associated with increased plasma levels of ACTH and cortisol. Eleven young insomniacs (6 men and 5 women) and 13 healthy controls (9 men and 4 women) without sleep disturbances, matched for age and body mass index, were monitored in the sleep laboratory for 4 consecutive nights, whereas serial 24-h plasma measures of ACTH and cortisol were obtained during the fourth day. Insomniacs, compared with controls, slept poorly (significantly higher sleep latency and wake during baseline nights). The 24-h ACTH and cortisol secretions were significantly higher in insomniacs, compared with normal controls (4.2 +/- 0.3 vs. 3.3 +/- 0.3 pM, P = 0.04; and 218.0 +/- 11.0 vs. 190.4 +/- 8.3 nM, P = 0.07). Within the 24-h period, the greatest elevations were observed in the evening and first half of the night. Also, insomniacs with a high degree of objective sleep disturbance (% sleep time insomnia is associated with an overall increase of ACTH and cortisol secretion, which, however, retains a normal circadian pattern. These findings are consistent with a disorder of central nervous system hyperarousal rather than one of sleep loss, which is usually associated with no change or decrease in cortisol secretion or a circadian disturbance. Chronic activation of the hypothalamic-pituitary-adrenal axis in insomnia suggests that insomniacs are at risk not only for mental disorders, i.e. chronic anxiety and depression, but also for significant medical morbidity associated with such activation. The therapeutic goal in insomnia should be to decrease the

  3. Arab Teens Lifestyle Study (ATLS): objectives, design, methodology and implications

    OpenAIRE

    Al-Hazzaa, Hazzaa; Musiager,Abdulrahman

    2011-01-01

    Hazzaa M Al-Hazzaa1,2, Abdulrahman O Musaiger3, ATLS Research Group1Exercise Physiology Laboratory, Department of Physical Education and Movement Sciences, College of Education, King Saud University, 2Scientific Board, Obesity Research Chair, King Saud University, Riyadh, Saudi Arabia; 3Arab Center for Nutrition, Manama, Bahrain, and Nutrition and Health Studies Unit, Deanship of Scientific Research, University of Bahrain, BahrainBackground: There is a lack of comparable data on physical acti...

  4. Medicare Beneficiary Knowledge: Measurement Implications from a Qualitative Study

    OpenAIRE

    Teal, Cayla R.; Paterniti, Debora A; Murphy, Christi L.; John, Dolly A.; Morgan, Robert O.

    2006-01-01

    Medicare beneficiary knowledge about fee-for-service (FFS) Medicare versus managed care alternatives (MCA) has been studied extensively. However, these efforts might be compromised by lack of familiarity with common Medicare terminology. We used qualitative methods to examine beneficiaries' familiarity with Medicare Programs (FFS and MCA) and terminology. Twenty-one indepth, semi-structured beneficiary interview transcripts were analyzed through iterative review. Across sex, race/ethnicity, a...

  5. Implication of Powdered Milk in Staphylococcal Intoxication: A Case Study

    OpenAIRE

    Nicolae Mocuţa; Gheorghe Şteţca; Vasile Chindriş; Adriana Morea

    2015-01-01

    Foodborne diseases are diseases and acute evolution occurs mostly with digestive signs to more consumers of food contaminated with specific pathogens. Staph food poisoning due to consumption of contaminated food is staph enterotoxins enterotoxogeni producing certain temperature conditions. Enterotoxins are 7 types, depending on the type of contaminant stafiloc strain, so enterotoxin detection and diagnosis of the disease is relatively difficult. In the study examined the evolution of an episo...

  6. Reelin-Related Disturbances in Depression: Implications for Translational Studies

    OpenAIRE

    Caruncho, Hector J.; Brymer, Kyle; Romay-Tallón, Raquel; Mitchell, Milann A.; Rivera-Baltanás, Tania; Botterill, Justin; Jose M. Olivares; Kalynchuk, Lisa E.

    2016-01-01

    The finding that reelin expression is significantly decreased in mood and psychotic disorders, together with evidence that reelin can regulate key aspects of hippocampal plasticity in the adult brain, brought our research group and others to study the possible role of reelin in the pathogenesis of depression. This review describes recent progress on this topic using an animal model of depression that makes use of repeated corticosterone (CORT) injections. This methodology produces depression-...

  7. REELIN-RELATED DISTURBANCES IN DEPRESSION: IMPLICATIONS FOR TRANSLATIONAL STUDIES

    OpenAIRE

    Hector J eCaruncho; Kyle eBrymer; Raquel eRoman-Tallon; Milann A eMitchell; Tania eRivera-Baltanas; Justin eBotterill; Jose M eOlivares; Lisa E eKalynchuk

    2016-01-01

    The finding that reelin expression is significantly decreased in mood and psychotic disorders, together with evidence that reelin can regulate key aspects of hippocampal plasticity in the adult brain, brought our research group and others to study the possible role of reelin in the pathogenesis of depression. This review describes recent progress on this topic using an animal model of depression that makes use of repeated corticosterone injections. This methodology produces depression-like sy...

  8. Social constructivism and its implications for critical media studies

    OpenAIRE

    Wilhelm Kempf

    2006-01-01

    While media critics maintain that war coverage has a strong bias toward promoting conflict escalation, their opponents claim that the concept of distorted reality cannot be upheld. What seems to be a media-political dispute results from an epistemological issue that tangles the very roots of cultural studies in general: the question of whether the social construction of reality implies the arbitrariness of opinions. The present paper discusses this proposition from a constructivist point o...

  9. Arab Teens Lifestyle Study (ATLS): objectives, design, methodology and implications

    OpenAIRE

    Al-Hazzaa, Hazzaa M; Musaiger, Abdulrahman O.; ,

    2011-01-01

    Background There is a lack of comparable data on physical activity, sedentary behavior, and dietary habits among Arab adolescents, which limits our understanding and interpretation of the relationship between obesity and lifestyle parameters. Therefore, we initiated the Arab Teens Lifestyle Study (ATLS). The ATLS is a multicenter collaborative project for assessing lifestyle habits of Arab adolescents. The objectives of the ATLS project were to investigate the prevalence rates for overweight ...

  10. Impact of the 2001 Foot-and-Mouth Disease Outbreak in Britain: Implications for Rural Studies

    Science.gov (United States)

    Scott, Alister; Christie, Michael; Midmore, Peter

    2004-01-01

    This paper assesses the impact of the 2001 foot-and-mouth disease outbreak in terms of its implications for the discipline of rural studies. In particular, it focuses on the position of agriculture in rural economy and society, the standing of the government after its management of the outbreak, and the performance of the new devolved regional…

  11. A Retrospective Study of Phonetic Inventory Complexity in Acquisition of Spanish: Implications for Phonological Universals

    Science.gov (United States)

    Catano, Lorena; Barlow, Jessica A.; Moyna, Maria Irene

    2009-01-01

    This study evaluates 39 different phonetic inventories of 16 Spanish-speaking children (ages 0;11 to 5;1) in terms of hierarchical complexity. Phonetic featural differences are considered in order to evaluate the proposed implicational hierarchy of Dinnsen et al.'s phonetic inventory typology for English. The children's phonetic inventories are…

  12. An Invitation to the Ethnographic Study of University Examination Behavior: Concepts, Methodology, and Implications.

    Science.gov (United States)

    Albas, Cheryl; Albas, Dan

    1996-01-01

    Reports a series of ethnographic studies of student behavior concerning examinations, conducted in a Canadian university since the mid-1980s. Describes techniques of data gathering and the link between methodology and theory. Examines implications for higher education, including dealing with students' exam-related stress, factors influencing…

  13. Vertical Cities of the Future: Implications for the Study and Teaching of Urban Geography

    Science.gov (United States)

    Berger, Michael L.

    1974-01-01

    The implications of a vertical city, of which the John Hancock Center in Chicago is a prototype, should be considered by teachers of urban studies. Questions clustering around nine discussion areas indicate the kinds of expanded, critical, and interdisciplinary thinking that planning and teaching for the future require. (JH)

  14. Comparative Study of University and Polytechnic Graduates in Finland: Implications of Higher Education on Earnings

    Science.gov (United States)

    Xia, Belle Selene; Liitiainen, Elia; Rekola, Mika

    2012-01-01

    This study explores the implications of higher education on earnings in Finland. The challenges as well as opportunities of obtaining a university degree as compared to graduating from polytechnics are evaluated using the REFLEX (The Flexible Professional in the Knowledge Society) data. As a Nordic country, Finland is known for its educated…

  15. A candidate gene study of the type I interferon pathway implicates IKBKE and IL8 as risk loci for SLE

    Science.gov (United States)

    Sandling, Johanna K; Garnier, Sophie; Sigurdsson, Snaevar; Wang, Chuan; Nordmark, Gunnel; Gunnarsson, Iva; Svenungsson, Elisabet; Padyukov, Leonid; Sturfelt, Gunnar; Jönsen, Andreas; Bengtsson, Anders A; Truedsson, Lennart; Eriksson, Catharina; Rantapää-Dahlqvist, Solbritt; Mälarstig, Anders; Strawbridge, Rona J; Hamsten, Anders; Criswell, Lindsey A; Graham, Robert R; Behrens, Timothy W; Eloranta, Maija-Leena; Alm, Gunnar; Rönnblom, Lars; Syvänen, Ann-Christine

    2011-01-01

    Systemic Lupus Erythematosus (SLE) is a systemic autoimmune disease in which the type I interferon pathway has a crucial role. We have previously shown that three genes in this pathway, IRF5, TYK2 and STAT4, are strongly associated with risk for SLE. Here, we investigated 78 genes involved in the type I interferon pathway to identify additional SLE susceptibility loci. First, we genotyped 896 single-nucleotide polymorphisms in these 78 genes and 14 other candidate genes in 482 Swedish SLE patients and 536 controls. Genes with P<0.01 in the initial screen were then followed up in 344 additional Swedish patients and 1299 controls. SNPs in the IKBKE, TANK, STAT1, IL8 and TRAF6 genes gave nominal signals of association with SLE in this extended Swedish cohort. To replicate these findings we extracted data from a genomewide association study on SLE performed in a US cohort. Combined analysis of the Swedish and US data, comprising a total of 2136 cases and 9694 controls, implicates IKBKE and IL8 as SLE susceptibility loci (Pmeta=0.00010 and Pmeta=0.00040, respectively). STAT1 was also associated with SLE in this cohort (Pmeta=3.3 × 10−5), but this association signal appears to be dependent of that previously reported for the neighbouring STAT4 gene. Our study suggests additional genes from the type I interferon system in SLE, and highlights genes in this pathway for further functional analysis. PMID:21179067

  16. Implication of bidirectional promoters containing duplicated GGAA motifs of mitochondrial function-associated genes

    Directory of Open Access Journals (Sweden)

    Fumiaki Uchiumi

    2013-12-01

    Full Text Available Mitochondria are well known as the primary required organelle in all eukaryotic cells. They have their own mtDNA containing genes that encode tRNAs, rRNAs and a set of functional proteins required for energy (ATP production. However, almost all (99% of mitochondrial proteins are encoded by host nuclear genes. Therefore, expression of mitochondrial protein-encoding genes should be regulated similarly to genes that are present in the host nuclear chromosomes. Interestingly, from genomic database assisted surveillance, it was revealed that a lot of mitochondrial function associated protein-encoding genes are oppositely linked in a head-head manner. If the two head-head conjugated genes are regulated by the same transcription factor(s, their expression would be dependent on the direction of transcription machinery that contains RNA polymerase II to execute mRNA synthesis. In this article, we will focus on several examples of the mitochondrial and the partner gene sets and discuss putative functions of transcription factor binding elements in the bidirectional promoters of mitochondrial function-associated genes in chromosomes.

  17. Molecular resemblance of an AIDS-associated lymphoma and endemic Burkitt lymphomas: Implications for their pathogenesis

    Energy Technology Data Exchange (ETDEWEB)

    Haluska, F.G.; Russo, G.; Croce, C.M. (Fels Institute for Cancer Research and Molecular Biology, Philadelphia, PA (USA)); Kant, J. (Univ. of Pennsylvania School of Medicine, Philadelphia (USA)); Andreef, M. (Memorial Sloan Kettering Institute, New York, NY (USA))

    1989-11-01

    Non-Hodgkin lymphoma is a common feature of AIDS. Approximately 30-40% of these tumors exhibit clinical features suggestive of endemic Burkitt lymphoma: they are aggressive malignancies that occur in association with Epstein-Barr virus infection, they arise in the setting of immunosuppression, and they carry t(8;14) translocations without detectable rearrangement of the MYC oncogene. To understand the molecular basis of these parallels, the authors analyzed a case of Epstein-Barr-positive AIDS-associated undifferentiated lymphoma. Southern blots show that the tumor exhibits immunoglobulin joining segment rearrangement but no rearrangement of the MYC oncogene. Cloning of the rearranged joining segment allowed the isolation of recombinant clones encompassing the translocation breakpoint, and sequencing of the translocation junction disclosed that the breakpoint is situated 7 base pairs from the chromosome 14 site involved in a previously described endemic Burkitt lymphoma translocation. Furthermore, the breakpoint is situated far from MYC on chromosome 8, a constant finding in endemic Burkitt lymphomas. That the molecular architecture of the translocation in this case is strikingly similar to previously analyzed translocations from endemic Burkitt lymphomas strongly suggests that common molecular mechanisms must be operative in the pathogenesis of these tumors.

  18. Size distribution of particle-associated polybrominated diphenyl ethers (PBDEs) and their implications for health

    Science.gov (United States)

    Lyu, Yan; Xu, Tingting; Li, Xiang; Cheng, Tiantao; Yang, Xin; Sun, Xiaomin; Chen, Jianmin

    2016-03-01

    In order to better understand the size distribution of particle-associated PBDEs and their deposition pattern in the human respiratory tract, we carried out a 1-year campaign during 2012-2013 for the measurement of size-resolved particles at the urban site of Shanghai. The results showed that particulate PBDEs exhibited a bimodal distribution with a mode peak in the accumulation particle size range and the second mode peak in the coarse particle size ranges. As the number of bromine atoms in the molecule increases, accumulation-mode peak intensity increased while coarse-mode peak intensity decreased. This change was consistent with the variation of PBDEs' subcooled vapor pressure. Absorption and adsorption processes dominated the distribution of PBDEs among the different size particles. The evaluated deposition flux of Σ13 PBDEs was 26.8 pg h-1, in which coarse particles contributed most PBDEs in head and tracheobronchial regions, while fine-mode particles contributed major PBDEs in the alveoli region. In association with the fact that fine particles can penetrate deeper into the respiratory system, fine-particle-bound highly brominated PBDEs can be inhaled more deeply into human lungs and cause a greater risk to human health.

  19. Innate immune memory: Implications for host responses to damage-associated molecular patterns.

    Science.gov (United States)

    Crișan, Tania O; Netea, Mihai G; Joosten, Leo A B

    2016-04-01

    Cells of the innate immune system build immunological memory via epigenetic reprogramming after stimulations with microbial ligands. This functional readjustment allows for enhanced nonspecific inflammatory responses upon secondary challenges, a process termed "trained immunity." The epigenomic blueprint of trained monocytes has been recently reported, which revealed several important immunologic and metabolic mechanisms that underlie these changes. Interestingly, similar long-term reprogramming of cytokine production has also been described to be induced by endogenous damage-associated molecular patterns (DAMPs). Here, we present an overview of the novel data showing that endogenous alarm signals associated with tissue damage and sterile inflammation can induce trained immunity through epigenetic regulation of transcriptional programs. We describe new and old evidence of persistent effects of DAMPs in driving inflammation and enforce the concept that the influence of tissue-derived signals is critical in adjusting the magnitude and type of immune response built by the host. The better characterization of trained immunity for the persistence of inflammation induced by DAMPs would provide new possibilities for intervention in aging and autoinflammatory disorders. PMID:26970440

  20. Implication of Powdered Milk in Staphylococcal Intoxication: A Case Study

    Directory of Open Access Journals (Sweden)

    Nicolae Mocuţa

    2015-11-01

    Full Text Available Foodborne diseases are diseases and acute evolution occurs mostly with digestive signs to more consumers of food contaminated with specific pathogens. Staph food poisoning due to consumption of contaminated food is staph enterotoxins enterotoxogeni producing certain temperature conditions. Enterotoxins are 7 types, depending on the type of contaminant stafiloc strain, so enterotoxin detection and diagnosis of the disease is relatively difficult. In the study examined the evolution of an episode of Foodborne staphylococcus in a school unit where 35 children fell ill between 252 consumers of milk reconstituted from milk powder. Duration of evolution was 4-10 hours.

  1. Ferritin Diversity: Mechanistic Studies, Disease Implications, and Materials Chemistry

    Science.gov (United States)

    Hilton, Robert J.

    2011-07-01

    The study of ferritin includes a rich history of discoveries and scientific progress. Initially, the composition of ferritin was determined. Soon, it was shown that ferritin is a spherical, hollow protein. Eventually, over several decades of research, the structure and some function of this interesting protein was elucidated. However, the ferritin field was not completely satisfied. Today, for example, researchers are interested in refining the details of ferritin function, in discovering the role of ferritin in a variety of diseases, and in using ferritin for materials chemistry applications. The work presented in this dissertation highlights the progress that we have made in each of these three areas: (1) Mechanistic studies: The buffer used during horse spleen ferritin iron loading significantly influences the mineralization process and the quantity of iron deposited in ferritin. The ferrihydrite core of ferritin is crystalline and ordered when iron is loaded into ferritin in the presence of imidazole buffer. On the other hand, when iron is loaded into ferritin in the presence of MOPS buffer, the ferrihydrite core is less crystalline and less ordered, and a smaller amount of total iron is loaded in ferritin. We also show that iron can be released from the ferritin core in a non-reductive manner. The rate of Fe3+ release from horse spleen ferritin was measured using the Fe3+-specific chelator desferoxamine. We show that iron release occurs by three kinetic events. (2) Disease studies: In order to better understand iron disruption during disease states, we performed in vitro assays that mimicked chronic kidney disease. We tested the hypothesis that elevated levels of serum phosphate interrupted normal iron binding by transferrin and ferritin. Results show that phosphate competes for iron, forming an iron(III)-phosphate complex that is inaccessible to either transferrin or ferritin. Ferritin samples separated from the iron(III)-phosphate complex shows that as the

  2. Social constructivism and its implications for critical media studies

    Directory of Open Access Journals (Sweden)

    Wilhelm Kempf

    2006-04-01

    Full Text Available While media critics maintain that war coverage has a strong bias toward promoting conflict escalation, their opponents claim that the concept of distorted reality cannot be upheld. What seems to be a media-political dispute results from an epistemological issue that tangles the very roots of cultural studies in general: the question of whether the social construction of reality implies the arbitrariness of opinions. The present paper discusses this proposition from a constructivist point of view and shows that it is based on an inadequate and logically incorrect understanding of truth and reality, and on a lack of differentiation between facts and meanings, between truth and beliefs and between objective and subjective realities. Defining a third path between cultural imperialism and a naïve understanding of cultural relativism, the paper finally discusses the methodological basis on which media criticism can build.

  3. The study of fear extinction: implications for anxiety disorders.

    Science.gov (United States)

    Graham, Bronwyn M; Milad, Mohammed R

    2011-12-01

    In this review, the authors propose that the fear extinction model can be used as an experimental tool to cut across symptom dimensions of multiple anxiety disorders to enhance our understanding of the psychopathology of these disorders and potentially facilitate the detection of biomarkers for them. The authors evaluate evidence for this proposition from studies examining the neurocircuitry underlying fear extinction in rodents, healthy humans, and clinical populations. The authors also assess the potential use of the fear extinction model to predict vulnerability for anxiety and treatment response and to improve existing treatments or develop novel ones. Finally, the authors suggest potential directions for future research that will help to further validate extinction as a biomarker for anxiety across diagnostic categories and to bridge the gap between basic neuroscience and clinical practice. PMID:21865528

  4. Habitat fragmentation is associated to gut microbiota diversity of an endangered primate: implications for conservation.

    Science.gov (United States)

    Barelli, Claudia; Albanese, Davide; Donati, Claudio; Pindo, Massimo; Dallago, Chiara; Rovero, Francesco; Cavalieri, Duccio; Tuohy, Kieran Michael; Hauffe, Heidi Christine; De Filippo, Carlotta

    2015-01-01

    The expansion of agriculture is shrinking pristine forest areas worldwide, jeopardizing the persistence of their wild inhabitants. The Udzungwa red colobus monkey (Procolobus gordonorum) is among the most threatened primate species in Africa. Primarily arboreal and highly sensitive to hunting and habitat destruction, they provide a critical model to understanding whether anthropogenic disturbance impacts gut microbiota diversity. We sampled seven social groups inhabiting two forests (disturbed vs. undisturbed) in the Udzungwa Mountains of Tanzania. While Ruminococcaceae and Lachnospiraceae dominated in all individuals, reflecting their role in extracting energy from folivorous diets, analysis of genus composition showed a marked diversification across habitats, with gut microbiota α-diversity significantly higher in the undisturbed forest. Functional analysis suggests that such variation may be associated with food plant diversity in natural versus human-modified habitats, requiring metabolic pathways to digest xenobiotics. Thus, the effects of changes in gut microbiota should not be ignored to conserve endangered populations. PMID:26445280

  5. The association of heavy and light chain variable domains in antibodies: implications for antigen specificity.

    KAUST Repository

    Chailyan, Anna

    2011-06-28

    The antigen-binding site of immunoglobulins is formed by six regions, three from the light and three from the heavy chain variable domains, which, on association of the two chains, form the conventional antigen-binding site of the antibody. The mode of interaction between the heavy and light chain variable domains affects the relative position of the antigen-binding loops and therefore has an effect on the overall conformation of the binding site. In this article, we analyze the structure of the interface between the heavy and light chain variable domains and show that there are essentially two different modes for their interaction that can be identified by the presence of key amino acids in specific positions of the antibody sequences. We also show that the different packing modes are related to the type of recognized antigen.

  6. Macrofauna associated with an introduced oyster, Pinctada radiata: Spatial scale implications of community differences

    Science.gov (United States)

    Tlig-Zouari, Sabiha; Rabaoui, Lotfi; Cosentino, Andrea; Irathni, Ikram; Ghrairi, Hafedh; Hassine, Oum Kalthoum Ben

    2011-01-01

    The macrozoobenthos associated with the introduced pearl oyster Pinctada radiata has been sampled at two different spatial scales of three sectors (order of hundreds of kilometres) and of eight localities (order of tens of kilometres). Moreover, the NW sector was selected to compare three localities with the presence of P. radiata (low density) and one locality where it was totally absent. The first design was hierarchical, with random localities nested within sectors; the second one was an asymmetrical factorial design, in which the presence/absence of Pinctada and hydrodynamism were considered. Similarity relationships were investigated by means of multivariate clustering, similarity percentage analysis and nm-MDS ordination; the two experimental designs have been tested by permutational MANOVA and analysis of dispersion (PERMDISP). Most of the variability of the associated zoobenthic community appeared to be mainly captured by local environmental factors; the meso-scale variability was more discriminating than differences at larger spatial scale. Large scale NW-SE biogeographic gradient may also have some effects in the assemblage composition. Although the whole arrangement of samples in the MDS plane showed a clear Bray-Curtis distance between the locality without Pinctada and all the remaining sites, pair-wise contrasts were not all significant. The factor "presence/absence" was not significant in this design, whereas the exposure was more indicative of differences in the local assemblage composition. These results may not confirm that the community structure variability is due to the impact of Pincata invasion because the potential and subtle community shift may be masked by the overwhelming influence of just the local environmental gradients. In spite of this, the introduced oyster may play the role of an engineer species at high densities, contributing to the complexity of the benthic habitat and influencing the trophic pattern of its fauna.

  7. Soil metal concentrations and toxicity: Associations with distances to industrial facilities and implications for human health

    Energy Technology Data Exchange (ETDEWEB)

    Aelion, C. Marjorie [Department of Environmental Health Sciences, University of South Carolina, 921 Assembly Street, Columbia, SC 29208 (United States); Department of Public Health, University of Massachusetts, 715 North Pleasant Street, Amherst, MA 01003 (United States)], E-mail: maelion@schoolph.umass.edu; Davis, Harley T. [Department of Environmental Health Sciences, University of South Carolina, 921 Assembly Street, Columbia, SC 29208 (United States); McDermott, Suzanne [Department of Family and Preventive Medicine, University of South Carolina, 3209 Colonial Drive, Columbia, SC 29203 (United States); Lawson, Andrew B. [Department of Biostatistics, Bioinformatics, and Epidemiology, Medical University of South Carolina, 135 Cannon Street, Charleston, SC 29425 (United States)

    2009-03-15

    Urban and rural areas may have different levels of environmental contamination and different potential sources of exposure. Many metals, i.e., arsenic (As), lead (Pb), and mercury (Hg), have well-documented negative neurological effects, and the developing fetus and young children are particularly at risk. Using a database of mother and child pairs, three areas were identified: a rural area with no increased prevalence of mental retardation and developmental delay (MR/DD) (Area A), and a rural area (Area B) and an urban area (Area C) with significantly higher prevalence of MR/DD in children as compared to the state-wide average. Areas were mapped and surface soil samples were collected from nodes of a uniform grid. Samples were analyzed for As, barium (Ba), beryllium (Be), chromium (Cr), copper (Cu), Pb, manganese (Mn), nickel (Ni), and Hg concentrations and for soil toxicity, and correlated to identify potential common sources. ArcGIS was used to determine distances between sample locations and industrial facilities, which were correlated with both metal concentrations and soil toxicity. Results indicated that all metal concentrations (except Be and Hg) in Area C were significantly greater than those in Areas A and B (p {<=} 0.0001) and that Area C had fewer correlations between metals suggesting more varied sources of metals than in rural areas. Area C also had a large number of facilities whose distances were significantly correlated with metals, particularly Cr (maximum r = 0.33; p = 0.0002), and with soil toxicity (maximum r = 0.25; p = 0.007) over a large spatial scale. Arsenic was not associated with distance to any facility and may have a different anthropogenic, or natural source. In contrast to Area C, both rural areas had lower concentrations of metals, lower soil toxicity, and a small number of facilities with significant associations between distance and soil metals.

  8. A case-control association study of NRXN1 polymorphisms with schizophrenia in Chinese Han population

    Directory of Open Access Journals (Sweden)

    Lu Tianlan

    2011-04-01

    Full Text Available Abstract Background Recent research has implicated that mutations in the neurexin-1 (NRXN1 gene on chromosome 2p16.3 might play a role in schizophrenia, autism, and nicotine dependence. In order to explore the association of NRXN1 polymorphisms with schizophrenia, we made a case-control association study in Chinese Han population. Methods We examined six tag single nucleotide polymorphisms (SNPs spanning 116.7 kb of NRXN1 in 768 schizophrenic patients and 738 healthy control subjects. The association of NRXN1 polymorphisms with schizophrenia and the age-at-onset of this disease were explored. Results Our results showed that four SNPs of NRXN1 gene were significantly associated with schizophrenia (rs10490168: G > A, p = 0.017; rs2024513: A > G, p = 0.006; rs13382584: T > C, p = 0.009; and rs1558852: G > A, p = 0.031. Furthermore, the association of SNP rs2024513 with schizophrenia remained significance after the Bonferroni correction. Haplotypes consisting of above six SNPs also showed significantly associated with schizophrenia (global chi-square = 14.725, p = 0.022. A protective haplotype AGTGCA remained associated with schizophrenia, even after 10,000 permutation tests (empirical p-value = 0.043. However, we did not find any association with age-at-onset of schizophrenia with NRXN1 polymorphisms. Conclusions Our findings suggest that NRXN1 might represent a major susceptibility gene for schizophrenia in Chinese Han population.

  9. Optimal use of video for teaching the practical implications of studying business information systems

    DEFF Research Database (Denmark)

    Fog, Benedikte; Ulfkjær, Jacob Kanneworff Stigsen; Schlichter, Bjarne Rerup

    The study of business information systems has become increasingly important in the Digital Economy. However, it has been found that students have difficulties understanding the practical implications thereof and this leads to a motivational decreases. This study aims to investigate how to optimize...... the use of video to increase comprehension of the practical implications of studying business information systems. This qualitative study is based on observations and focus group interviews with first semester business students. The findings suggest that the video examined in the case study did not...... sufficiently reflect the theoretical recommendations of using video optimally in a management education. It did not comply with the video learning sequence as introduced by Marx and Frost (1998). However, it questions if the level of cognitive orientation activities can become too extensive. It finds that...

  10. Effects of meals on hemodynamics: implications for antihypertensive drug studies.

    Science.gov (United States)

    Fagan, T C; Conrad, K A; Mar, J H; Nelson, L

    1986-03-01

    The ingestion of food is known to affect blood pressure and heart rate, but food is often allowed in patients under observation for antihypertensive drug effects. Seventy-seven patients with essential hypertension were observed for 8 hours after a 16-hour fast. Thirty-six continued to fast, 20 ate a high-carbohydrate meal, and 21 ate a meal of their own choice. Blood pressure and heart rate did not change during fasting, but both meals lowered mean supine and standing diastolic blood pressures during the subsequent 4 hours by 3 to 7 mm Hg (P less than 0.001). The high-carbohydrate meal reduced supine systolic blood pressure by 6 mm Hg (P less than 0.0001). Both meals increased supine and standing heart rates by 5 to 8 bpm (P less than 0.001). After the self-selected meal, standing systolic blood pressure increased in younger patients but decreased in older patients. Food ingestion during antihypertensive drug studies may interfere with the interpretation of results and should be avoided whenever possible. PMID:3948465

  11. An Empirical Bayes Mixture Model for Effect Size Distributions in Genome-Wide Association Studies

    DEFF Research Database (Denmark)

    Thompson, Wesley K.; Wang, Yunpeng; Schork, Andrew J.;

    2015-01-01

    -wide association study (GWAS) test statistics. Test statistics corresponding to null associations are modeled as random draws from a normal distribution with zero mean; test statistics corresponding to non-null associations are also modeled as normal with zero mean, but with larger variance. The model is fit via...... discovery, and polygenic risk prediction. To this end, previous work has used effect-size models based on various distributions, including the normal and normal mixture distributions, among others. In this paper we propose a scale mixture of two normals model for effect size distributions of genome...... minimizing discrepancies between the parametric mixture model and resampling-based nonparametric estimates of replication effect sizes and variances. We describe in detail the implications of this model for estimation of the non-null proportion, the probability of replication in de novo samples, the local...

  12. Implications of the road traffic and aircraft noise exposure and children's cognition and health (RANCH) study results for classroom acoustics

    Science.gov (United States)

    Stansfeld, Stephen A.; Clark, Charlotte

    2005-04-01

    Studies in West London have found associations between aircraft noise exposure and childrens' cognitive performance. This has culminated in the RANCH Study examining exposure-effect associations between aircraft and road traffic noise exposure and cognitive performance and health. The RANCH project, the largest cross-sectional study of noise and childrens health, examined 2844 children, 9-10 years old, from 89 schools around three major airports: in the Netherlands, Spain and the United Kingdom. Children were selected by external aircraft and road traffic noise exposure at school predicted from noise contour maps, modeling and on-site measurements. A substudy indicated high internal levels of noise within classrooms. Schools were matched for socioeconomic position within countries. Cognitive and health outcomes were measured by standardized tests and questionnaires administered in the classroom. A parental questionnaire collected information on socioeconomic position, parental education and ethnicity. Linear exposure-effect associations were found between chronic aircraft noise exposure and impairment of reading comprehension and recognition memory, maintained after adjustment for mothers education, socioeconomic factors, longstanding illness and classroom insulation. Road traffic noise exposure was linearly associated with episodic memory. The implications of these results for childrens' learning environments will be discussed. [Work supported by European Community (QLRT-2000-00197) Vth framework program.

  13. Taphonomy for taxonomists: Implications of predation in small mammal studies

    Science.gov (United States)

    Fernández-Jalvo, Yolanda; Andrews, Peter; Denys, Christiane; Sesé, Carmen; Stoetzel, Emmanuelle; Marin-Monfort, Dolores; Pesquero, Dolores

    2016-05-01

    Predation is one of the most recurrent sources of bone accumulations. The influence of predation is widely studied for large mammal sites where humans, acting as predators, produce bone accumulations similar to carnivore accumulations. Similarly, small mammal fossil sites are mainly occupation levels of predators (nests or dens). In both cases, investigations of past events can be compared with present day equivalents or proxies. Chewing marks are sometimes present on large mammal predator accumulations, but digestion traits are the most direct indication of predation, and evidence for this is always present in small mammal (prey) fossil assemblages. Digestion grades and frequency indicates predator type and this is well established since the publication of Andrews (1990). The identification of the predator provides invaluable information for accurate interpretation of the palaeoenvironment. Traditionally, palaeoenvironmental interpretations are obtained from the taxonomic species identified in the site, but rather than providing direct interpretations of the surrounding palaeoenvironment, this procedure actually describes the dietary preferences of the predators and the type of occupation (nests, marking territory, dens, etc). This paper reviews the identification of traits produced by predators on arvicolins, murins and soricids using a method that may be used equally by taxonomists and taphonomists. It aims to provide the "tools" for taxonomists to identify the predator based on their methodology, which is examining the occlusal surfaces of teeth rather than their lateral aspects. This will greatly benefit both the work of taphonomists and taxonomists to recognize signs of predation and the improvement of subsequent palaeoecological interpretations of past organisms and sites by identifying both the prey and the predator.

  14. Reelin-Related Disturbances in Depression: Implications for Translational Studies.

    Science.gov (United States)

    Caruncho, Hector J; Brymer, Kyle; Romay-Tallón, Raquel; Mitchell, Milann A; Rivera-Baltanás, Tania; Botterill, Justin; Olivares, Jose M; Kalynchuk, Lisa E

    2016-01-01

    The finding that reelin expression is significantly decreased in mood and psychotic disorders, together with evidence that reelin can regulate key aspects of hippocampal plasticity in the adult brain, brought our research group and others to study the possible role of reelin in the pathogenesis of depression. This review describes recent progress on this topic using an animal model of depression that makes use of repeated corticosterone (CORT) injections. This methodology produces depression-like symptoms in both rats and mice that are reversed by antidepressant treatment. We have reported that CORT causes a decrease in the number of reelin-immunopositive cells in the dentate gyrus subgranular zone (SGZ), where adult hippocampal neurogenesis takes place; that down-regulation of the number of reelin-positive cells closely parallels the development of a depression-like phenotype during repeated CORT treatment; that reelin downregulation alters the co-expression of reelin with neuronal nitric oxide synthase (nNOS); that deficits in reelin might also create imbalances in glutamatergic and GABAergic circuits within the hippocampus and other limbic structures; and that co-treatment with antidepressant drugs prevents both reelin deficits and the development of a depression-like phenotype. We also observed alterations in the pattern of membrane protein clustering in peripheral lymphocytes in animals with low levels of reelin. Importantly, we found parallel changes in membrane protein clustering in depression patients, which differentiated two subpopulations of naïve depression patients that showed a different therapeutic response to antidepressant treatment. Here, we review these findings and develop the hypothesis that restoring reelin-related function could represent a novel approach for antidepressant therapies. PMID:26941609

  15. REELIN-RELATED DISTURBANCES IN DEPRESSION: IMPLICATIONS FOR TRANSLATIONAL STUDIES

    Directory of Open Access Journals (Sweden)

    Hector J eCaruncho

    2016-02-01

    Full Text Available The finding that reelin expression is significantly decreased in mood and psychotic disorders, together with evidence that reelin can regulate key aspects of hippocampal plasticity in the adult brain, brought our research group and others to study the possible role of reelin in the pathogenesis of depression. This review describes recent progress on this topic using an animal model of depression that makes use of repeated corticosterone injections. This methodology produces depression-like symptoms in both rats and mice that are reversed by antidepressant treatment. We have reported that corticosterone causes a decrease in the number of reelin-immunopositive cells in the dentate gyrus subgranular zone, where adult hippocampal neurogenesis takes place; that down-regulation of the number of reelin-positive cells closely parallels the development of a depression-like phenotype during repeated corticosterone treatment; that reelin downregulation alters the co-expression of reelin with neuronal nitric oxide synthase; that deficits in reelin might also create imbalances in glutamatergic and GABAergic circuits within the hippocampus and other limbic structures; and that co-treatment with antidepressant drugs prevents both reelin deficits and the development of a depression-like phenotype. We also observed alterations in the pattern of membrane protein clustering in peripheral lymphocytes in animals with low levels of reelin. Importantly, we found parallel changes in membrane protein clustering in depression patients, which differentiated two subpopulations of naïve depression patients that showed a different therapeutic response to antidepressant treatment. Here we review these findings and develop the hypothesis that restoring reelin-related function could represent a novel approach for antidepressant therapies.

  16. Factors associated with HIV testing and condom use in Mozambique: implications for programs

    Directory of Open Access Journals (Sweden)

    Agha Sohail

    2012-09-01

    Full Text Available Abstract Background To identify predictors of HIV testing and condom use in Mozambique. Methods Nationally representative survey data collected in Mozambique in 2009 was analyzed. Logistic regression analysis was used for two outcomes: HIV testing and condom use. Results Women at a higher risk of HIV were less likely to be tested for HIV than women at a lower risk: compared to married women, HIV testing was lower among never married women (OR = 0.37, CI: 0.25-0.54; compared to women with one lifetime partner, HIV testing was lower among women with four or more lifetime partners (OR = 0.62, CI: 0.47-0.83. Large wealth differentials were observed: compared to the poorest women, HIV testing was higher among the wealthiest women (OR = 3.03, CI: 1.96-4.68. Perceived quality of health services was an important predictor of HIV testing: HIV testing was higher among women who rated health services as being of very good quality (OR = 2.12, CI: 1.49-3.00. Type of sexual partner was the strongest predictor of condom use: condom use was higher among men who reported last sex with a girlfriend (OR = 9.75, CI: 6.81-13.97 or a casual partner (OR = 11.05, CI: 7.21-16.94. Being tested for HIV during the last two years was the only programmatic variable that predicted condom use. Interestingly, being tested for HIV more than two years ago was not associated with condom use. Frequent mass media exposure was neither associated with HIV testing nor with condom use. Conclusions The focus of HIV testing should shift from married women (routinely tested during antenatal care visits to unmarried women and women with multiple sexual partners. Financial barriers to HIV testing appear to be substantial. Since HIV testing is done without a fee being charged, these barriers are presumably related to the cost of transportation to static health facilities. Mechanisms should be developed to cover the cost of transportation to health facilities

  17. Factors associated with knowledge of hypertension among adolescents: implications for preventive education programs in primary care

    OpenAIRE

    Grad, Iga; Mastalerz-Migas, Agnieszka; Kiliś-Pstrusińska, Katarzyna

    2015-01-01

    Background Hypertension (HT) amongst adolescents remains a vital issue of both a medical and social nature. There is a lack of data regarding the factors influencing the awareness of the disease among the youth. The aim of this study was to evaluate the knowledge about HT among adolescents and its level corresponding to the selected demographic, environmental and medical factors. Methods The study was carried out among 250 adolescents of secondary schools. The authors’ questionnaire poll and ...

  18. The implication of frontostriatal circuits in young smokers: A resting-state study.

    Science.gov (United States)

    Yuan, Kai; Yu, Dahua; Bi, Yanzhi; Li, Yangding; Guan, Yanyan; Liu, Jixin; Zhang, Yi; Qin, Wei; Lu, Xiaoqi; Tian, Jie

    2016-06-01

    The critical roles of frontostriatal circuits had been revealed in addiction. With regard to young smokers, the implication of frontostriatal circuits resting-state functional connectivity (RSFC) in smoking behaviors and cognitive control deficits remains unclear. In this study, the volume of striatum subsets, i.e., caudate, putamen, and nucleus accumbens, and corresponding RSFC differences were investigated between young smokers (n1  = 60) and nonsmokers (n2  = 60), which were then correlated with cigarette smoking measures, such as pack_years-cumulative effect of smoking, Fagerström Test for Nicotine Dependence (FTND)-severity of nicotine addiction, Questionnaire on Smoking Urges (QSU)-craving state, and Stroop task performances. Additionally, mediation analysis was carried out to test whether the frontostriatal RSFC mediates the relationship between striatum morphometry and cognitive control behaviors in young smokers when applicable. We revealed increased volume of right caudate and reduced RSFC between caudate and dorsolateral prefrontal cortex (DLPFC), orbitofrontal cortex in young smokers. Significant positive correlation between right caudate volume and QSU as well as negative correlation between anterior cingulate cortex-right caudate RSFC and FTND were detected in young smokers. More importantly, DLPFC-caudate RSFC strength mediated the relationship between caudate volume and incongruent errors during Stroop task in young smokers. Our results demonstrated that young smokers showed abnormal interactions within frontostriatal circuits, which were associated with smoking behaviors and cognitive control impairments. It is hoped that our study focusing on frontostriatal circuits could provide new insights into the neural correlates and potential novel therapeutic targets for treatment of young smokers. Hum Brain Mapp 37:2013-2026, 2016. © 2016 Wiley Periodicals, Inc. PMID:26918784

  19. Implications of ground water chemistry and flow patterns for earthquake studies.

    Science.gov (United States)

    Guangcai, Wang; Zuochen, Zhang; Min, Wang; Cravotta, Charles A; Chenglong, Liu

    2005-01-01

    Ground water can facilitate earthquake development and respond physically and chemically to tectonism. Thus, an understanding of ground water circulation in seismically active regions is important for earthquake prediction. To investigate the roles of ground water in the development and prediction of earthquakes, geological and hydrogeological monitoring was conducted in a seismogenic area in the Yanhuai Basin, China. This study used isotopic and hydrogeochemical methods to characterize ground water samples from six hot springs and two cold springs. The hydrochemical data and associated geological and geophysical data were used to identify possible relations between ground water circulation and seismically active structural features. The data for delta18O, deltaD, tritium, and 14C indicate ground water from hot springs is of meteoric origin with subsurface residence times of 50 to 30,320 years. The reservoir temperature and circulation depths of the hot ground water are 57 degrees C to 160 degrees C and 1600 to 5000 m, respectively, as estimated by quartz and chalcedony geothermometers and the geothermal gradient. Various possible origins of noble gases dissolved in the ground water also were evaluated, indicating mantle and deep crust sources consistent with tectonically active segments. A hard intercalated stratum, where small to moderate earthquakes frequently originate, is present between a deep (10 to 20 km), high-electrical conductivity layer and the zone of active ground water circulation. The ground water anomalies are closely related to the structural peculiarity of each monitoring point. These results could have implications for ground water and seismic studies in other seismogenic areas. PMID:16029173

  20. Implications of private sector participation in power generation-a case study from India

    International Nuclear Information System (INIS)

    India suffers from widespread shortages of electricity supply. These shortages, among others, are detrimental to the economic growth. The prospects for the next decade do not seem to be much brighter. Efforts in expanding generation capacity by the state-owned electric utilities are hampered by severe resource constraints. Against this backdrop, to mobilize additional resources to help bridge the gap in demand and supply, the Government of India formulated a policy in 1991 with the objective to encourage greater investment by private enterprises in the electricity sector. To study the implications of such an initiative on various stakeholders, viz., public utilities, consumers and private sector, the present paper tries to analyse issues like planned rationing, guarantees to private sector, backing down of existing capacity. Using the state of Karnataka (in Southern India) as a case study, the paper develops multiple scenarios using an integrated mixed integer-programming model. The results show the advantage of marginal non-supply (rationing) of electricity in terms of achieving overall effective supply demand matching as well as providing economic benefits to the state that could be generated through cost savings. The results also show the negative impacts of high guarantees offered to the private sector in terms of the opportunity costs of reduced utilization of both the existing and the new public capacity. The estimated generation losses and the associated economic impacts of backing down of existing and new public capacity on account of guarantees are found to be significantly high. For 2011-12, depending on the type of scenarios, the estimated generation and economic losses are likely to be in the range of 3200-10,000 GWh and Rs. 4200-13,600 million respectively. The impact of these losses on the consumers could be in terms of significant increase in energy bills (in the range of 19-40% for different scenarios) due to rise in tariffs

  1. Implication of the association between GBM transient 150914 and LIGO Gravitational Wave event GW150914

    CERN Document Server

    Li, Xiang; Yuan, Qiang; Jin, Zhi-Ping; Fan, Yi-Zhong; Liu, Si-Ming; Wei, Da-Ming

    2016-01-01

    On September 14, 2015 the two detectors of LIGO simultaneously detected a transient gravitational-wave signal GW150914 and the Fermi GBM observations found a weak short gamma-ray burst (SGRB)-like transient (i.e., the GBM transient 150914). The time and location coincidences favor the association between GW150904 and GBM transient 150914. We compared GBM transient 150914 with other SGRBs and found that such an event is indeed a distinct outlier in the $E_{\\rm p,rest}-E_{\\rm iso}$ and $E_{\\rm p,rest}-L_{\\gamma}$ diagrams ($E_{\\rm iso}$ is the isotropic-equivalent energy, $L_\\gamma$ is the luminosity and $E_{\\rm p,rest}$ is the rest frame peak energy of the prompt emission), possibly due to its specific binary-black-hole merger origin. However, the presence of a "new" group of SGRBs with "low" $L_\\gamma$ and $E_{\\rm iso}$ but high $E_{\\rm p,rest}$ is also possible. If the outflow of GBM transient 150914 was launched by the accretion onto the nascent black hole, we estimate the accretion disk mass to be $\\sim 10...

  2. Implications of the Implicit Association Test D-Transformation for Psychological Assessment.

    Science.gov (United States)

    Blanton, Hart; Jaccard, James; Burrows, Christopher N

    2015-08-01

    Psychometricians strive to eliminate random error from their psychological inventories. When random error affecting tests is diminished, tests more accurately characterize people on the psychological dimension of interest. We document an unusual property of the scoring algorithm for a measure used to assess a wide range of psychological states. The "D-score" algorithm for coding the Implicit Association Test (IAT) requires the presence of random noise in order to obtain variability. Without consequential degrees of random noise, all individuals receive extreme scores. We present results from an algebraic proof, a computer simulation, and an online survey of implicit racial attitudes to show how trial error can bias IAT assessments. We argue as a result that the D-score algorithm should not be used for formal assessment purposes, and we offer an alternative to this approach based on multiple regression. Our critique focuses primarily on the IAT designed to measure unconscious racial attitudes, but it applies to any IAT developed to provide psychological assessments within clinical, organizational, and developmental branches of psychology-and in any other field where the IAT might be used. PMID:25296761

  3. Implications of liver activity associated with 133Xe ventilation lung scans

    International Nuclear Information System (INIS)

    A series of 35 xenon-133 (133Xe) ventilation studies yielded nine cases demonstrating accumulation of activity in the liver. Maximum intrahepatic deposition of radioxenon occurred during the washout phase of the study. In addition to those clinical instances which make this phenomenon possible, i.e., obesity, alcoholic-induced liver steatosis and diabetes mellitus, we found that hyperlipidemia and coronary artery disease also favor xenon-133 localization into the hepatic parenchyma. It is concluded that the lipid avidity of 133Xe facilitates its liver accumulation hyperlipidemic patients and in patients with coronary artery disease, and that this action may be explored to further understand deranged metabolic pathways in the liver of these patients. Hepatic accumulation of 133Xe during ventilation studies must be considered when assessing regional ventilation/perfusion relationships

  4. A study of association between dental health status and pregnancy

    OpenAIRE

    Bhavana Gupta; Attiuddin Siddique

    2013-01-01

    Background: To study the association between dental health status and pregnancy in rural India. Methods: The cohort study was carried out in the department of Obstetrics and Gynecology at Integral Institute of Medical Sciences and Research, Lucknow from March 2012 to April 2013, for the period of 1year. The dental health statuses of 600 antenatal cases were studied. The prevalence of gingivitis, dental caries and periodontal disease were studied. The association between poor oral hygiene, ...

  5. Modification of trout sperm membranes associated with activation and cryopreservation. Implications for fertilizing potential.

    Science.gov (United States)

    Purdy, P H; Barbosa, E A; Praamsma, C J; Schisler, G J

    2016-08-01

    We investigated the effects of two trout sperm activation solutions on sperm physiology and membrane organization prior to and following cryopreservation using flow cytometry and investigated their impact on in vitro fertility. Overall, frozen-thawed samples had greater phospholipid disorder when compared with fresh samples (high plasma membrane fluidity; P < 0.0001) and sperm activated with water also had high plasma membrane fluidity when compared to sperm activated with Lahnsteiner solution (LAS; P < 0.0001). Following cryopreservation water activated samples had membranes with greater membrane protein disorganization compared with LAS but the membrane protein organization of LAS samples was similar to samples prior to freezing (P < 0.0001). Post-thaw water activation resulted in significant increases in intracellular calcium compared to LAS (P < 0.002). In vitro fertility trials with frozen-thawed milt and LAS activation resulted in greater fertility (45%) compared to water activated samples (10%; P < 0.0001). Higher fertility rates correlated with lower intracellular calcium with water (R(2) = -0.9; P = 0.01) and LAS (R(2) = -0.85; P = 0.03) activation. Greater plasma membrane phospholipid (R(2) = -0.89; P = 0.02) and protein (R(2) = -0.84; P = 0.04) disorder correlated with lower water activation fertility rates. These membrane organization characteristics only approached significance with LAS activation in vitro fertility (P = 0.09, P = 0.06, respectively). Potentially the understanding of sperm membrane reorganizations and the physiology associated with activation following cryopreservation may enable users in a repository or hatchery setting to estimate the fertilizing potential of a sample and determine its value. PMID:27234987

  6. Digital mammography in a screening programme and its implications for pathology: a comparative study.

    LENUS (Irish Health Repository)

    Feeley, Linda

    2011-03-01

    Most studies comparing full-field digital mammography (FFDM) with conventional screen-film mammography (SFM) have been radiology-based. The pathological implications of FFDM have received little attention in the literature, especially in the context of screening programmes. The primary objective of this retrospective study is to compare FFDM with SFM in a population-based screening programme with regard to a number of pathological parameters.

  7. A qualitative study of the cultural implications of attempted suicide and its prevention in South India

    OpenAIRE

    Lasrado, Reena Anitha

    2014-01-01

    Suicide in India is a complex social issue and a neglected area by the state. Research has focused on risk factors and the epidemiology of suicide; studies concerning the intersection of culture with attempted suicide are limited. The aim of this study is to explore cultural implications of attempted suicide and its prevention in Southern India by means of comparing and contrasting the accounts of survivors of attempted suicide, mental health professionals and traditional healers engaged in...

  8. Endocrine disruptors and dental materials: health implications associated with their use in Brazil

    Directory of Open Access Journals (Sweden)

    Coelho Antonio Jorge Molinário

    2002-01-01

    Full Text Available This study analyzes international historical trends in the use of different types of materials in dental practice. The author describes the chemical properties of their ingredients and the potential and observed adverse effects in patients and dental technicians resulting from clinical or occupational exposure to various metals like beryllium, used to produce metal alloys. The growing use of various products (resin cements, ionomer cements, aesthetic restorative materials, resins, endodontal cements, and others based on the compound bisphenol-A, whose chemical structure is similar to that of estrogen. Considering the demographic and contemporary work force characteristics of those involved in dental practice in the Brazil, the study highlights the possible effect of the use of these materials in both male and female patients and all age strata, as well as in health professionals with occupational exposure to products containing bisphenol-A.

  9. Association of Body Mass and Brain Activation during Gastric Distention: Implications for Obesity

    OpenAIRE

    Tomasi, Dardo; Wang, Gene-Jack; Wang, Ruiliang; Backus, Walter; Geliebter, Allan; Telang, Frank; Jayne, Millar C.; Wong, Christopher; Fowler, Joanna S.; Volkow, Nora D.

    2009-01-01

    Background Gastric distention (GD), as it occurs during meal ingestion, signals a full stomach and it is one of the key mechanisms controlling food intake. Previous studies on GD showed lower activation of the amygdala for subjects with higher body mass index (BMI). Since obese subjects have dopaminergic deficits that correlate negatively with BMI and the amygdala is innervated by dopamine neurons, we hypothesized that BMI would correlate negatively with activation not just in the amygdala bu...

  10. Factors Associated With General and Sexual Alcohol-Related Consequences: An Examination of College Students Studying Abroad

    OpenAIRE

    Hummer, Justin F.; Pedersen, Eric R.; Mirza, Tehniat; LaBrie, Joseph W.

    2010-01-01

    This study contributes to the scarce research on U.S. college students studying abroad by documenting general and sexual negative alcohol-related risks and factors associated with such risk. The manner of drinking (quantity vs. frequency), predeparture expectations surrounding alcohol use while abroad, culture-related social anxiety, and perceived disparity between home and host cultures differentially predicted consequences abroad. The findings include important implications for student affa...

  11. An Empirical Study on User-oriented Association Analysis of Library Classification Schemes

    Directory of Open Access Journals (Sweden)

    Hsiao-Tieh Pu

    2002-12-01

    Full Text Available Library classification schemes are mostly organized based on disciplines with a hierarchical structure. From the user point of view, some highly related yet non-hierarchical classes may not be easy to perceive in these schemes. This paper is to discover hidden associations between classes by analyzing users’ usage of library collections. The proposed approach employs collaborative filtering techniques to discover associated classes based on the circulation patterns of similar users. Many associated classes scattered across different subject hierarchies could be discovered from the circulation patterns of similar users. The obtained association norms between classes were found to be useful in understanding users' subject preferences for a given class. Classification schemes can, therefore, be made more adaptable to changes of users and the uses of different library collections. There are implications for applications in information organization and retrieval as well. For example, catalogers could refer to the ranked associated classes when they perform multi-classification, and users could also browse the associated classes for related subjects in an enhanced OPAC system. In future research, more empirical studies will be needed to validate the findings, and methods for obtaining user-oriented associations can still be improved.[Article content in Chinese

  12. Small Sample Kernel Association Tests for Human Genetic and Microbiome Association Studies.

    Science.gov (United States)

    Chen, Jun; Chen, Wenan; Zhao, Ni; Wu, Michael C; Schaid, Daniel J

    2016-01-01

    Kernel machine based association tests (KAT) have been increasingly used in testing the association between an outcome and a set of biological measurements due to its power to combine multiple weak signals of complex relationship with the outcome through the specification of a relevant kernel. Human genetic and microbiome association studies are two important applications of KAT. However, the classic KAT framework relies on large sample theory, and conservativeness has been observed for small sample studies, especially for microbiome association studies. The common approach for addressing the small sample problem relies on computationally intensive resampling methods. Here, we derive an exact test for KAT with continuous traits, which resolve the small sample conservatism of KAT without the need for resampling. The exact test has significantly improved power to detect association for microbiome studies. For binary traits, we propose a similar approximate test, and we show that the approximate test is very powerful for a wide range of kernels including common variant- and microbiome-based kernels, and the approximate test controls the type I error well for these kernels. In contrast, the sequence kernel association tests have slightly inflated genomic inflation factors after small sample adjustment. Extensive simulations and application to a real microbiome association study are used to demonstrate the utility of our method. PMID:26643881

  13. Indoor to outdoor air quality associations with self-pollution implications inside passenger car cabins

    Science.gov (United States)

    Abi-Esber, L.; El-Fadel, M.

    2013-12-01

    In this study, in-vehicle and out-vehicle concentrations of fine particulate matter (PM2.5) and carbon monoxide (CO) are measured to assess commuter's exposure in a commercial residential area and on a highway, under three popular ventilation modes namely, one window half opened, air conditioning on fresh air intake, and air conditioning on recirculation and examine its relationship to scarcely studied parameters including self pollution, out-vehicle sample intake location and meteorological gradients. Self pollution is the intrusion of a vehicle's own engine fumes into the passenger's compartment. For this purpose, six car makes with different ages were instrumented to concomitantly monitor in- and out-vehicle PM2.5 and CO concentrations as well as meteorological parameters. Air pollution levels were unexpectedly higher in new cars compared to old cars, with in-cabin air quality most correlated to that of out-vehicle air near the front windshield. Self-pollution was observed at variable rates in three of the six tested cars. Significant correlations were identified between indoor to outdoor pressure difference and PM2.5 and CO In/Out (IO) ratios under air recirculation and window half opened ventilation modes whereas temperature and humidity difference affected CO IO ratios only under the air recirculation ventilation mode.

  14. Naturalising Ethics: The Implications of Darwinism for the Study of Moral Philosophy

    Science.gov (United States)

    Cartwright, John

    2010-05-01

    The nature of moral values has occupied philosophers and educationalists for centuries and a variety of claims have been made about their origin and status. One tradition suggests they may be thoughts in the mind of God; another that they are eternal truths to be reached by rational reflection (much like the truths of mathematics) or alternatively through intuition; another that they are social conventions; and another (from the logical positivists) that they are not verifiable facts but simply the expression of emotional likes and dislikes. Standard introductory texts (e.g., Bowie 2004; Vardy and Grosch 1999) on the subject of ethics rarely mention Darwin or Darwinism (Mepham 2005 is a useful exception) possibly mindful of the fact that the relationship of evolutionary biology to moral questions has had a troublesome history. The effect of this has been that whole generations of moral philosophers have given the biological sciences a wide berth and consequently often remain poorly informed about recent advances in evolutionary thought and the neurosciences. On the other hand, scientists have developed interesting models of the evolution of the moral sentiments and are using new imaging techniques to explore the centres of the brain associated with emotion and motivation, but many have been fearful of committing the naturalistic fallacy and so have steered clear of extrapolating their findings to ethical questions. No one after all wants to be seen to be committing an elementary logical blunder. But in the last 20 years, evolutionary biologists have regained the confidence to explore the implications of evolution for the study of ethics (de Waal 1996; Wilson 1998; Wright 1994; Greene 2003). This paper is designed to encourage those entrusted with the teaching of ethics to be open to the potential of Darwinism as a source of ideas on the origins and status of ethical thought and behaviour. It is also hoped that it will illustrate for science educators the enormous

  15. Association between cancer and contact allergy: a linkage study

    OpenAIRE

    Engkilde, Kaare; Thyssen, Jacob P; Menné, Torkil; Johansen, Jeanne D.

    2011-01-01

    Background Contact allergy is a prevalent disorder. It is estimated that about 20% of the general population are allergic to one or more of the chemicals that constitute the European baseline patch test panel. While many studies have investigated associations between type I allergic disorders and cancer, few have looked into the association between cancer and contact allergy, a type IV allergy. By linking two clinical databases, the authors investigate the possible association between contact...

  16. Genome-wide association study of shared components of reading disability and language impairment.

    Science.gov (United States)

    Eicher, J D; Powers, N R; Miller, L L; Akshoomoff, N; Amaral, D G; Bloss, C S; Libiger, O; Schork, N J; Darst, B F; Casey, B J; Chang, L; Ernst, T; Frazier, J; Kaufmann, W E; Keating, B; Kenet, T; Kennedy, D; Mostofsky, S; Murray, S S; Sowell, E R; Bartsch, H; Kuperman, J M; Brown, T T; Hagler, D J; Dale, A M; Jernigan, T L; St Pourcain, B; Davey Smith, G; Ring, S M; Gruen, J R

    2013-11-01

    Written and verbal languages are neurobehavioral traits vital to the development of communication skills. Unfortunately, disorders involving these traits-specifically reading disability (RD) and language impairment (LI)-are common and prevent affected individuals from developing adequate communication skills, leaving them at risk for adverse academic, socioeconomic and psychiatric outcomes. Both RD and LI are complex traits that frequently co-occur, leading us to hypothesize that these disorders share genetic etiologies. To test this, we performed a genome-wide association study on individuals affected with both RD and LI in the Avon Longitudinal Study of Parents and Children. The strongest associations were seen with markers in ZNF385D (OR = 1.81, P = 5.45 × 10(-7) ) and COL4A2 (OR = 1.71, P = 7.59 × 10(-7) ). Markers within NDST4 showed the strongest associations with LI individually (OR = 1.827, P = 1.40 × 10(-7) ). We replicated association of ZNF385D using receptive vocabulary measures in the Pediatric Imaging Neurocognitive Genetics study (P = 0.00245). We then used diffusion tensor imaging fiber tract volume data on 16 fiber tracts to examine the implications of replicated markers. ZNF385D was a predictor of overall fiber tract volumes in both hemispheres, as well as global brain volume. Here, we present evidence for ZNF385D as a candidate gene for RD and LI. The implication of transcription factor ZNF385D in RD and LI underscores the importance of transcriptional regulation in the development of higher order neurocognitive traits. Further study is necessary to discern target genes of ZNF385D and how it functions within neural development of fluent language. PMID:24024963

  17. Dietary correlates associated with the mental foramen in primates: implications for interpreting the fossil record.

    Science.gov (United States)

    Muchlinski, Magdalena N; Deane, Andrew S

    2016-07-01

    The mandibular nerve is a sensory and motor nerve that innervates the muscles of mastication, the lower dentition, and the lower lip and surrounding structures. Although this nerve contains both efferent and afferent fibers, the mental nerve, a terminal branch of the mandibular nerve, is a strictly sensory nerve that exits the mental foramen and innervates the lower lip, the skin overlaying the mandible, and the oral mucosa around the mandible. Osteological foramina are often used as proxies for nerve cross section area and they often correlate well with some aspect of a primate's ecology (e.g., optic foramen and visual acuity). The primary objective of this study is to explore the correlation between the mental foramen and dietary preference among primates. The mental foramen of 40 primate species (n = 180) was measured from 3-D surface models of the mandible. Both conventional and phylogenetic tests indicate that although frugivores have larger mental foramina than folivores, the differences were not significant. These results show that while structures like the infraorbital foramen correlate well with diet and touch sensitivity, the mental foramen does not. Based on these findings, the mental foramen is not a suggested morphological character for interpreting of the fossil record. J. Morphol. 277:978-985, 2016. © 2016 Wiley Periodicals, Inc. PMID:27130849

  18. Recurrent Glioblastomas Reveal Molecular Subtypes Associated with Mechanistic Implications of Drug-Resistance.

    Directory of Open Access Journals (Sweden)

    So Mee Kwon

    Full Text Available Previously, transcriptomic profiling studies have shown distinct molecular subtypes of glioblastomas. It has also been suggested that the recurrence of glioblastomas could be achieved by transcriptomic reprograming of tumors, however, their characteristics are not yet fully understood. Here, to gain the mechanistic insights on the molecular phenotypes of recurrent glioblastomas, gene expression profiling was performed on the 43 cases of glioblastomas including 15 paired primary and recurrent cases. Unsupervised clustering analyses revealed two subtypes of G1 and G2, which were characterized by proliferation and neuron-like gene expression traits, respectively. While the primary tumors were classified as G1 subtype, the recurrent glioblastomas showed two distinct expression types. Compared to paired primary tumors, the recurrent tumors in G1 subtype did not show expression alteration. By contrast, the recurrent tumors in G2 subtype showed expression changes from proliferation type to neuron-like one. We also observed the expression of stemness-related genes in G1 recurrent tumors and the altered expression of DNA-repair genes (i.e., AURK, HOX, MGMT, and MSH6 in the G2 recurrent tumors, which might be responsible for the acquisition of drug resistance mechanism during tumor recurrence in a subtype-specific manner. We suggest that recurrent glioblastomas may choose two different strategies for transcriptomic reprograming to escape the chemotherapeutic treatment during tumor recurrence. Our results might be helpful to determine personalized therapeutic strategy against heterogeneous glioma recurrence.

  19. Genome-wide association of polycystic ovary syndrome implicates alterations in gonadotropin secretion in European ancestry populations.

    Science.gov (United States)

    Hayes, M Geoffrey; Urbanek, Margrit; Ehrmann, David A; Armstrong, Loren L; Lee, Ji Young; Sisk, Ryan; Karaderi, Tugce; Barber, Thomas M; McCarthy, Mark I; Franks, Stephen; Lindgren, Cecilia M; Welt, Corrine K; Diamanti-Kandarakis, Evanthia; Panidis, Dimitrios; Goodarzi, Mark O; Azziz, Ricardo; Zhang, Yi; James, Roland G; Olivier, Michael; Kissebah, Ahmed H; Stener-Victorin, Elisabet; Legro, Richard S; Dunaif, Andrea

    2015-01-01

    Polycystic ovary syndrome (PCOS) is a common, highly heritable complex disorder of unknown aetiology characterized by hyperandrogenism, chronic anovulation and defects in glucose homeostasis. Increased luteinizing hormone relative to follicle-stimulating hormone secretion, insulin resistance and developmental exposure to androgens are hypothesized to play a causal role in PCOS. Here we map common genetic susceptibility loci in European ancestry women for the National Institutes of Health PCOS phenotype, which confers the highest risk for metabolic morbidities, as well as reproductive hormone levels. Three loci reach genome-wide significance in the case-control meta-analysis, two novel loci mapping to chr 8p23.1 [Corrected] and chr 11p14.1, and a chr 9q22.32 locus previously found in Chinese PCOS. The same chr 11p14.1 SNP, rs11031006, in the region of the follicle-stimulating hormone B polypeptide (FSHB) gene strongly associates with PCOS diagnosis and luteinizing hormone levels. These findings implicate neuroendocrine changes in disease pathogenesis. PMID:26284813

  20. Monsoonal influence on variation of hydrochemistry and isotopic signatures: Implications for associated arsenic release in groundwater

    Science.gov (United States)

    Majumder, Santanu; Datta, Saugata; Nath, Bibhash; Neidhardt, Harald; Sarkar, Simita; Roman-Ross, Gabriela; Berner, Zsolt; Hidalgo, Manuela; Chatterjee, Debankur; Chatterjee, Debashis

    2016-04-01

    The present study examines the groundwater and surface water geochemistry of two different geomorphic domains within the Chakdaha block, West Bengal, in an attempt to decipher potential influences of groundwater abstraction on the hydrochemical evolution of the aquifer, the effect of different water inputs (monsoon rain, irrigation and downward percolation from surface water impoundments) to the groundwater system and concomitant As release. A low-land flood plain and a natural levee have been selected for this purpose. Although the stable isotopic signatures of oxygen (δ18O) and hydrogen (δ2H) are largely controlled by local precipitation, the isotopic composition falls sub-parallel to the Global Meteoric Water Line (GMWL). The Cl/Br molar ratio indicates vertical recharge into the wells within the flood plain area, especially during the post-monsoon season, while influences of both evaporation and vertical mixing are visible within the natural levee wells. Increase in mean DOC concentrations (from 1.33 to 6.29 mg/L), from pre- to post-monsoon season, indicates possible inflow of organic carbon to the aquifer during the monsoonal recharge. Concomitant increase in AsT, Fe(II) and HCO3- highlights a possible initial episode of reductive dissolution of As-rich Fe-oxyhydroxides. The subsequent sharp increase in the mean As(III) proportions (by 223%), particularly in the flood plain samples during the post-monsoon season, which is accompanied by a slight increase in mean AsT (7%) may refer to anaerobic microbial degradation of DOC coupled with the reduction of As(V) to As(III) without triggering additional As release from the aquifer sediments.

  1. Habitat association and conservation implications of endangered Francois' langur (Trachypithecus francoisi.

    Directory of Open Access Journals (Sweden)

    Yajie Zeng

    Full Text Available Francois' langur (Trachypithecus francoisi is an endangered primate and endemic to the limestone forests of the tropical and subtropical zone of northern Vietnam and South-west China with a population of about 2,000 individuals. Conservation efforts are hampered by limited knowledge of habitat preference in its main distribution area. We surveyed the distribution of Francois' langur and modeled the relationship between the probability of use and habitat features in Mayanghe National Nature Reserve, Guizhou, China. The main objectives of this study were to provide quantitative information on habitat preference, estimating the availability of suitable habitat, and providing management guidelines for the effective conservation of this species. By comparing 92 used locations with habitat available in the reserve, we found that Francois' langur was mainly distributed along valleys and proportionally, used bamboo forests and mixed conifer-broadleaf forests more than their availability, whereas they tended to avoid shrubby areas and coniferous forests. The langur tended to occur at sites with lower elevation, steeper slope, higher tree canopy density, and a close distance to roads and water. The habitat occupancy probability was best modeled by vegetation type, vegetation coverage, elevation, slope degree, distances to nearest water, paved road, and farmland edge. The suitable habitat in this reserve concentrated in valleys and accounted for about 25% of the total reserve area. Our results showed that Francois' langur was not only restricted at the landscapes level at the regions with karst topography, limestone cliffs, and caves, but it also showed habitat preference at the local scale. Therefore, the protection and restoration of the langur preferred habitats such as mixed conifer-broadleaf forests are important and urgent for the conservation of this declining species.

  2. UGT2B4 previously implicated in the risk of breast cancer is associated with menarche timing in Ukrainian females.

    Science.gov (United States)

    Yermachenko, Anna; Dvornyk, Volodymyr

    2016-09-15

    Age at menarche (AAM) is a multifactorial trait that is regulated by dozens environmental and genetic factors. Recent meta-analysis of GWAS showed significant association of 106 loci with AAM. These polymorphisms need replicating in different ethnic populations in order to confirm their association with menarche timing. This study was aimed to replicate 53 polymorphisms that were previously associated with AAM. DNA samples were collected from 416 Ukrainian young females for further genotyping. After data quality control 47 polymorphisms remained for the association analysis using the linear regression model. SNP rs13111134 located in UGT2B4 showed the most significant association with AAM (0.431years per allele A, padj=0.044 after the Bonferroni correction). Polymorphisms rs7589318 in POMC, rs11724758 in FABP2, rs7753051 in IGF2R, rs2288696 in FGFR1 and rs12444979 in GPRC5B may also contribute to menarche timing. However, none of these associations remained significant after the Bonferroni correction for multiple testing. The obtained results provide evidence that UGT2B4, which was previously associated with predisposition to breast cancer, may play a role in the onset of menarche. PMID:27282283

  3. Higher FKBP5, COMT, CHRNA5, and CRHR1 allele burdens are associated with PTSD and interact with trauma exposure: implications for neuropsychiatric research and treatment

    Directory of Open Access Journals (Sweden)

    Boscarino JA

    2012-03-01

    interacts with risk allele count, such that PTSD is increased in those with higher risk allele counts and higher trauma exposures. Since the single nucleotide polymorphisms studied encompass stress circuitry and addiction biology, these findings may have implications for neuropsychiatric research and treatment.Keywords: posttraumatic stress disorder, genetic association study, single nucleotide polymorphism, risk alleles, trauma exposure, neuroticism, childhood adversity

  4. Prognostic Implication of M2 Macrophages Are Determined by the Proportional Balance of Tumor Associated Macrophages and Tumor Infiltrating Lymphocytes in Microsatellite-Unstable Gastric Carcinoma.

    Directory of Open Access Journals (Sweden)

    Kyung-Ju Kim

    Full Text Available Tumor associated macrophages are major inflammatory cells that play an important role in the tumor microenvironment. In this study, we investigated the prognostic significance of tumor associated macrophages (TAMs in MSI-high gastric cancers using immunohistochemistry. CD68 and CD163 were used as markers for total infiltrating macrophages and M2-polarized macrophages, respectively. The density of CD68+ or CD163+ TAMs in four different areas (epithelial and stromal compartments of both the tumor center and invasive front were analyzed in 143 cases of MSI-high advanced gastric cancers using a computerized image analysis system. Gastric cancers were scored as "0" or "1" in each area when the density of CD68+ and CD163+ TAMs was below or above the median value. Low density of CD68+ or CD163+ macrophages in four combined areas was closely associated with more frequent low-grade histology and the intestinal type tumor of the Lauren classification. In survival analysis, the low density of CD163+ TAMs was significantly associated with poor disease-free survival. In multivariate survival analysis, CD163+ TAMs in four combined areas, stromal and epithelial compartments of both tumor center and invasive front were independent prognostic indicator in MSI-high gastric cancers. In addition, the density of CD163+ TAMs correlated with tumor infiltrating lymphocytes (TILs. Our results indicate that the high density of CD163+ TAMs is an independent prognostic marker heralding prolonged disease-free survival and that the prognostic implication of CD163+ TAMs might be determined by the proportional balance of TAMs and TILs in MSI-high gastric cancers.

  5. Associations of postural knowledge and basic motor skill with dyspraxia in autism: implication for abnormalities in distributed connectivity and motor learning.

    Science.gov (United States)

    Dowell, Lauren R; Mahone, E Mark; Mostofsky, Stewart H

    2009-09-01

    Children with autism often have difficulty performing skilled movements. Praxis performance requires basic motor skill, knowledge of representations of the movement (mediated by parietal regions), and transcoding of these representations into movement plans (mediated by premotor circuits). The goals of this study were (a) to determine whether dyspraxia in autism is associated with impaired representational ("postural") knowledge and (b) to examine the contributions of postural knowledge and basic motor skill to dyspraxia in autism. Thirty-seven children with autism spectrum disorder (ASD) and 50 typically developing (TD) children, ages 8-13, completed (a) an examination of basic motor skills, (b) a postural knowledge test assessing praxis discrimination, and (c) a praxis examination. Children with ASD showed worse basic motor skill and postural knowledge than did controls. The ASD group continued to show significantly poorer praxis than did controls after accounting for age, IQ, basic motor skill, and postural knowledge. Dyspraxia in autism appears to be associated with impaired formation of spatial representations, as well as transcoding and execution. Distributed abnormality across parietal, premotor, and motor circuitry, as well as anomalous connectivity, may be implicated. PMID:19702410

  6. The cys-loop ligand-gated ion channel gene family of Tetranychus urticae: implications for acaricide toxicology and a novel mutation associated with abamectin resistance.

    Science.gov (United States)

    Dermauw, W; Ilias, A; Riga, M; Tsagkarakou, A; Grbić, M; Tirry, L; Van Leeuwen, T; Vontas, J

    2012-07-01

    The cys-loop ligand-gated ion channel (cysLGIC) super family of Tetranychus urticae, the two-spotted spider mite, represents the largest arthropod cysLGIC super family described to date and the first characterised one within the group of chelicerates. Genome annotation, phylogenetic analysis and comparison of the cysLGIC subunits with their counterparts in insects reveals that the T. urticae genome encodes for a high number of glutamate- and histamine-gated chloride channel genes (GluCl and HisCl) compared to insects. Three orthologues of the insect γ-aminobutyric acid (GABA)-gated chloride channel gene Rdl were detected. Other cysLGIC groups, such as the nAChR subunits, are more conserved and have clear insect orthologues. Members of cysLGIC family mediate endogenous chemical neurotransmission and they are prime targets of insecticides. Implications for toxicology associated with the identity and specific features of T. urticae family members are discussed. We further reveal the accumulation of known and novel mutations in different GluCl channel subunits (Tu_GluCl1 and Tu_GluCl3) associated with abamectin resistance in T. urticae, and provide genetic evidence for their causality. Our study provides useful toxicological insights for the exploration of the T. urticae cysLGIC subunits as putative molecular targets for current and future chemical control strategies. PMID:22465149

  7. Reference group theory with implications for information studies: a theoretical essay

    OpenAIRE

    E. Murell Dawson; Elfreda A. Chatman

    2001-01-01

    This article explores the role and implications of reference group theory in relation to the field of library and information science. Reference group theory is based upon the principle that people take the standards of significant others as a basis for making self-appraisals, comparisons, and choices regarding need and use of information. Research that applies concepts of reference group theory to various sectors of library and information studies can provide data useful in enhancing areas s...

  8. A Cross-sectional Study of Prevalence and Implications of Depression and Anxiety in Psoriasis

    OpenAIRE

    Sreelatha Lakshmy; Sivaprakash Balasundaram; Sukanto Sarkar; Moutusi Audhya; Eswaran Subramaniam

    2015-01-01

    Background: Physical and mental comorbidity is common and has significant implications for overall health outcomes. Psoriasis, a psychocutaneous disorder, is a classic example of mental-physical comorbidity. Aims: In view of the impact of socio-cultural influences on mind-body interactions and the paucity of Indian research pertaining to psychiatric morbidity in psoriatic patients, this study was undertaken to measure the prevalence of anxiety and depression in patients with psoriasis, and to...

  9. Resource and Climate Implications of Landfill Mining A Case Study of Sweden

    OpenAIRE

    Frändegård, Per; Krook, Joakim; Svensson, Niclas; Eklund, Mats

    2013-01-01

    This study analyzes the amount of material deposited in Swedish municipal solid waste landfills, how much is extractable and recyclable, and what the resource and climate implications are if landfill mining coupled with resource recovery were to be implemented in Sweden. The analysis is based on two scenarios with different conventional separation technologies, one scenario using a mobile separation plant and the other using a more advanced stationary separation plant. Further, the approach u...

  10. Current approaches of genome-wide association studies

    Institute of Scientific and Technical Information of China (English)

    Jianfeng Xu

    2008-01-01

    @@ With rapid advances in high-throughput genotyping technology and the great increase in information available on SNPs throughout the genuine, genuine-wide association(GWA) studies have now become feasible.

  11. Geochemical mapping using stream sediments in west-central Nigeria: Implications for environmental studies and mineral exploration in West Africa

    International Nuclear Information System (INIS)

    This paper provides an overview of regional geochemical mapping using stream sediments from central and south-western Nigeria. A total of 1569 stream sediment samples were collected and 54 major and trace elements determined by ICP-MS and Au, Pd and Pt by fire assay. Multivariate statistical techniques (e.g., correlation analysis and principal factor analysis) were used to explore the data, following appropriate data transformation, to understand the data structure, investigate underlying processes controlling spatial geochemical variability and identify element associations. Major geochemical variations are controlled by source geology and provenance, as well as chemical weathering and winnowing processes, more subtle variations are a result of land use and contamination from anthropogenic activity. This work has identified placer deposits of potential economic importance for Au, REE, Ta, Nb, U and Pt, as well as other primary metal deposits. Areas of higher As and Cr (>2 mg/kg and >70 mg/kg respectively) are associated with Mesozoic and younger coastal sediments in SW Nigeria. High stream sediment Zr concentrations (mean >0.2%), from proximal zircons derived from weathering of basement rocks, have important implications for sample preparation and subsequent analysis due to interferences. Associated heavy minerals enriched in high field strength elements, and notably rare earths, may also have important implications for understanding magmatic processes within the basement terrain of West Africa. This study provides important new background/baseline geochemical values for common geological domains in Nigeria (which extend across other parts of West Africa) for assessment of contamination from urban/industrial land use changes and mining activities. Regional stream sediment mapping is also able to provide important new information with applications across a number of sectors including agriculture, health, land use and planning.

  12. Association study of monoamine oxidase A/B genes and schizophrenia in Han Chinese

    Directory of Open Access Journals (Sweden)

    Li Sheng-Bin

    2011-10-01

    Full Text Available Abstract Background Monoamine oxidases (MAOs catalyze the metabolism of dopaminergic neurotransmitters. Polymorphisms of isoforms MAOA and MAOB have been implicated in the etiology of mental disorders such as schizophrenia. Association studies detected these polymorphisms in several populations, however the data have not been conclusive to date. Here, we investigated the association of MAOA and MAOB polymorphisms with schizophrenia in a Han Chinese population. Methods Two functional single nucleotide polymorphisms (SNPs, rs6323 of MAOA and rs1799836 of MAOB, were selected for association analysis in 537 unrelated schizophrenia patients and 536 healthy controls. Single-locus and Haplotype associations were calculated. Results No differences were found in the allelic distribution of rs6323. The G allele of rs1799836 was identified as a risk factor in the development of schizophrenia (P = 0.00001. The risk haplotype rs6323T-rs1799836G was associated with schizophrenia in female patients (P = 0.0002, but the frequency difference was not significant among male groups. Conclusions Our results suggest that MAOB is a susceptibility gene for schizophrenia. In contrast, no significant associations were observed for the MAOA functional polymorphism with schizophrenia in Han Chinese. These data support further investigation of the role of MAO genes in schizophrenia.

  13. A Genomewide Association Study of DSM-IV Cannabis Dependence

    OpenAIRE

    Agrawal, Arpana; Lynskey, Michael T.; Hinrichs, Anthony; Grucza, Richard; Saccone, Scott F; Krueger, Robert; Neuman, Rosalind; Howells, William; Fisher, Sherri; Fox, Louis; Cloninger, Robert,; Dick, Danielle M; Doheny, Kimberly F.; Edenberg, Howard J.; Goate, Alison M.

    2010-01-01

    Despite twin studies showing that 50–70% of variation in DSM-IV cannabis dependence is attributable to heritable influences, little is known of specific genotypes that influence vulnerability to cannabis dependence. We conducted a genomewide association study of DSM-IV cannabis dependence. Association analyses of 708 DSM-IV cannabis dependent cases with 2,346 cannabis exposed nondependent controls was conducted using logistic regression in PLINK. None of the 948,142 SNPs met genomewide signif...

  14. Families or Unrelated: The Evolving Debate in Genetic Association Studies

    OpenAIRE

    Fardo, David W.; Charnigo, Richard; Epstein, Michael P.

    2012-01-01

    To help uncover the genetic determinants of complex disease, a scientist often designs an association study using either unrelated subjects or family members within pedigrees. But which of these two subject recruitment paradigms is preferable? This editorial addresses the debate over the relative merits of family- and population-based genetic association studies. We begin by briefly recounting the evolution of genetic epidemiology and the rich crossroads of statistics and genetics. We then de...

  15. Genome-wide association study of clinical dimensions of schizophrenia

    DEFF Research Database (Denmark)

    Fanous, Ayman H; Zhou, Baiyu; Aggen, Steven H;

    2012-01-01

    Multiple sources of evidence suggest that genetic factors influence variation in clinical features of schizophrenia. The authors present the first genome-wide association study (GWAS) of dimensional symptom scores among individuals with schizophrenia.......Multiple sources of evidence suggest that genetic factors influence variation in clinical features of schizophrenia. The authors present the first genome-wide association study (GWAS) of dimensional symptom scores among individuals with schizophrenia....

  16. A genome-wide association study of anorexia nervosa

    OpenAIRE

    2014-01-01

    Anorexia nervosa (AN) is a complex and heritable eating disorder characterized by dangerously low body weight. Neither candidate gene studies nor an initial genome-wide association study (GWAS) have yielded significant and replicated results. We performed a GWAS in 2907 cases with AN from 14 countries (15 sites) and 14 860 ancestrally matched controls as part of the Genetic Consortium for AN (GCAN) and the Wellcome Trust Case Control Consortium 3 (WTCCC3). Individual association analyses were...

  17. Genome-wide Association Study of Periodontal Pathogen Colonization

    OpenAIRE

    Divaris, K.; Monda, K.L.; North, K. E.; Olshan, A F; Lange, E.M.; K. Moss; Barros, S.P.; Beck, J.D.; Offenbacher, S.

    2012-01-01

    Pathological shifts of the human microbiome are characteristic of many diseases, including chronic periodontitis. To date, there is limited evidence on host genetic risk loci associated with periodontal pathogen colonization. We conducted a genome-wide association (GWA) study among 1,020 white participants of the Atherosclerosis Risk in Communities Study, whose periodontal diagnosis ranged from healthy to severe chronic periodontitis, and for whom “checkerboard” DNA-DNA hybridization quantifi...

  18. Genome-wide association study of pancreatic cancer in Japanese population.

    Directory of Open Access Journals (Sweden)

    Siew-Kee Low

    Full Text Available Pancreatic cancer shows very poor prognosis and is the fifth leading cause of cancer death in Japan. Previous studies indicated some genetic factors contributing to the development and progression of pancreatic cancer; however, there are limited reports for common genetic variants to be associated with this disease, especially in the Asian population. We have conducted a genome-wide association study (GWAS using 991 invasive pancreatic ductal adenocarcinoma cases and 5,209 controls, and identified three loci showing significant association (P-value<5x10(-7 with susceptibility to pancreatic cancer. The SNPs that showed significant association carried estimated odds ratios of 1.29, 1.32, and 3.73 with 95% confidence intervals of 1.17-1.43, 1.19-1.47, and 2.24-6.21; P-value of 3.30x10(-7, 3.30x10(-7, and 4.41x10(-7; located on chromosomes 6p25.3, 12p11.21 and 7q36.2, respectively. These associated SNPs are located within linkage disequilibrium blocks containing genes that have been implicated some roles in the oncogenesis of pancreatic cancer.

  19. 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. PMID:25469926

  20. Contribution of phytoliths to total biogenic silica volumes in the tropical rivers of Malaysia and associated implications for the marine biogeochemical cycle

    Science.gov (United States)

    Zang, Jiaye; Liu, Sen; Liu, Yanguang; Ma, Yongxing; Ran, Xiangbin

    2016-01-01

    The contribution of phytoliths to total biogenic silica (BSi) volumes in rivers worldwide, and the associated implications for the biogeochemical cycle, require in-depth study. Based on samples from rivers in Peninsular Malaysia, this project investigated the source and characteristics of BSi found in Asian tropical rivers, as well as the process of reverse weathering taking place in these fluvial systems. Results indicated that BSi samples collected in sediments consisted of phytolith, diatom and sponge spicules. Phytoliths, predominantly of the elongate form, comprised 92.8%-98.3% of BSi in the Pahang River. Diatom BSi in this river consisted mainly of pennatae diatoms, but represented a relatively small proportion of the total BSi volume. However, diatom BSi (predominantly of the Centricae form) was more prevalent in the Pontian and Endau Rivers with shares of 68.8% and 79.3% of the total BSi volumes, respectively, than Pahang River. Carbon contents of the BSi particulates ranged from 1.85% to 10.8% with an average of 4.79%. These values are higher than those recorded in other studies to date, and indicate that BSi plays a major role in controlling permanent carbon burial. This study suggests that phytoliths from terrestrial plants are the primary constituents of BSi in the rivers of Peninsular Malaysia, and therefore represent a significant proportion of the coastal silica budget.

  1. Genetic association studies in lumbar disc degeneration: a systematic review.

    Directory of Open Access Journals (Sweden)

    Pasi J Eskola

    Full Text Available OBJECTIVE: Low back pain is associated with lumbar disc degeneration, which is mainly due to genetic predisposition. The objective of this study was to perform a systematic review to evaluate genetic association studies in lumbar disc degeneration as defined on magnetic resonance imaging (MRI in humans. METHODS: A systematic literature search was conducted in MEDLINE, MEDLINE In-Process, SCOPUS, ISI Web of Science, The Genetic Association Database and The Human Genome Epidemiology Network for information published between 1990-2011 addressing genes and lumbar disc degeneration. Two investigators independently identified studies to determine inclusion, after which they performed data extraction and analysis. The level of cumulative genetic association evidence was analyzed according to The HuGENet Working Group guidelines. RESULTS: Fifty-two studies were included for review. Forty-eight studies reported at least one positive association between a genetic marker and lumbar disc degeneration. The phenotype definition of lumbar disc degeneration was highly variable between the studies and replications were inconsistent. Most of the associations presented with a weak level of evidence. The level of evidence was moderate for ASPN (D-repeat, COL11A1 (rs1676486, GDF5 (rs143383, SKT (rs16924573, THBS2 (rs9406328 and MMP9 (rs17576. CONCLUSIONS: Based on this first extensive systematic review on the topic, the credibility of reported genetic associations is mostly weak. Clear definition of lumbar disc degeneration phenotypes and large population-based cohorts are needed. An international consortium is needed to standardize genetic association studies in relation to disc degeneration.

  2. Ambivalent implications of health care information systems: a study in the Brazilian public health care system

    Directory of Open Access Journals (Sweden)

    João Porto de Albuquerque

    2011-01-01

    Full Text Available This article evaluates social implications of the "SIGA" Health Care Information System (HIS in a public health care organization in the city of São Paulo. The evaluation was performed by means of an in-depth case study with patients and staff of a public health care organization, using qualitative and quantitative data. On the one hand, the system had consequences perceived as positive such as improved convenience and democratization of specialized treatment for patients and improvements in work organization. On the other hand, negative outcomes were reported, like difficulties faced by employees due to little familiarity with IT and an increase in the time needed to schedule appointments. Results show the ambiguity of the implications of HIS in developing countries, emphasizing the need for a more nuanced view of the evaluation of failures and successes and the importance of social contextual factors.

  3. Reference group theory with implications for information studies: a theoretical essay

    Directory of Open Access Journals (Sweden)

    E. Murell Dawson

    2001-01-01

    Full Text Available This article explores the role and implications of reference group theory in relation to the field of library and information science. Reference group theory is based upon the principle that people take the standards of significant others as a basis for making self-appraisals, comparisons, and choices regarding need and use of information. Research that applies concepts of reference group theory to various sectors of library and information studies can provide data useful in enhancing areas such as information-seeking research, special populations, and uses of information. Implications are promising that knowledge gained from like research can be beneficial in helping information professionals better understand the role theory plays in examining ways in which people manage their information and social worlds.

  4. Genome-wide association study of serum selenium concentrations

    DEFF Research Database (Denmark)

    Gong, Jian; Hsu, Li; Harrison, Tabitha;

    2013-01-01

    Selenium is an essential trace element and circulating selenium concentrations have been associated with a wide range of diseases. Candidate gene studies suggest that circulating selenium concentrations may be impacted by genetic variation; however, no study has comprehensively investigated this...... hypothesis. Therefore, we conducted a two-stage genome-wide association study to identify genetic variants associated with serum selenium concentrations in 1203 European descents from two cohorts: the Prostate, Lung, Colorectal, and Ovarian (PLCO) Cancer Screening and the Women’s Health Initiative (WHI). We...... tested association between 2,474,333 single nucleotide polymorphisms (SNPs) and serum selenium concentrations using linear regression models. In the first stage (PLCO) 41 SNPs clustered in 15 regions had p < 1 × 10−5. None of these 41 SNPs reached the significant threshold (p = 0.05/15 regions = 0...

  5. An Association Study of the Brain-Derived Neurotrophic Factor Val66Met Polymorphism and Amphetamine Response

    OpenAIRE

    Brody A Flanagin; Cook, Edwin H.; de Wit, Harriet

    2006-01-01

    Although genetic factors are known to be important in addiction, no candidate genes have yet been consistently linked to drug use or abuse. Brain-derived neurotrophic factor (BDNF), which has been implicated in the behavioral response to psychomotor stimulants and potentiates neurotransmitters that are strongly linked to addiction, is a logical candidate gene to study. Using a drug challenge approach, we tested for association between BDNF G196A (val66met) genotype and subjective responses to...

  6. Prediction of disease and phenotype associations from genome-wide association studies.

    Directory of Open Access Journals (Sweden)

    Stephanie N Lewis

    Full Text Available BACKGROUND: Genome wide association studies (GWAS have proven useful as a method for identifying genetic variations associated with diseases. In this study, we analyzed GWAS data for 61 diseases and phenotypes to elucidate common associations based on single nucleotide polymorphisms (SNP. The study was an expansion on a previous study on identifying disease associations via data from a single GWAS on seven diseases. METHODOLOGY/PRINCIPAL FINDINGS: Adjustments to the originally reported study included expansion of the SNP dataset using Linkage Disequilibrium (LD and refinement of the four levels of analysis to encompass SNP, SNP block, gene, and pathway level comparisons. A pair-wise comparison between diseases and phenotypes was performed at each level and the Jaccard similarity index was used to measure the degree of association between two diseases/phenotypes. Disease relatedness networks (DRNs were used to visualize our results. We saw predominant relatedness between Multiple Sclerosis, type 1 diabetes, and rheumatoid arthritis for the first three levels of analysis. Expected relatedness was also seen between lipid- and blood-related traits. CONCLUSIONS/SIGNIFICANCE: The predominant associations between Multiple Sclerosis, type 1 diabetes, and rheumatoid arthritis can be validated by clinical studies. The diseases have been proposed to share a systemic inflammation phenotype that can result in progression of additional diseases in patients with one of these three diseases. We also noticed unexpected relationships between metabolic and neurological diseases at the pathway comparison level. The less significant relationships found between diseases require a more detailed literature review to determine validity of the predictions. The results from this study serve as a first step towards a better understanding of seemingly unrelated diseases and phenotypes with similar symptoms or modes of treatment.

  7. An epidemiological study of respiratory syncytial virus associated hospitalizations in Denmark

    Directory of Open Access Journals (Sweden)

    Stensballe Lone

    2002-06-01

    Full Text Available Abstract Respiratory syncytial virus (RSV is the most common viral pathogen that causes lower respiratory tract infections in infants. Studies have implicated severe RSV infections early in life as a risk factor for subsequent development of reactive airway disease. We are conducting a study to validate RSV-associated diagnoses in the Danish National Patient Registry, to assess whether the incidence of severe RSV infection is increasing in Denmark, to identify predisposing and protective factors for RSV-associated hospitalization in Denmark, and to examine the association of severe RSV infection with reactive airway disease. The influence of various biological, social and environmental factors on hospitalization for RSV infection will be studied through several population-based registers, including the Danish National Birth Cohort: 'Better health for mothers and children'. The RSV hospitalization cases will be compared with control individuals selected within the same population groups on a case–control or a cohort basis in order to produce estimates of age-adjusted and sex-adjusted relative risks (odds ratio and relative risk for hospitalization associated with various risk factors. Using register linkage and unique registration of exposures collected through interviews and blood samples from the Danish National Birth Cohort, we will be able to resolve the issues referred to above in a very large sample of Danish children.

  8. A genome-wide association analysis implicates SOX6 as a candidate gene for wrist bone mass

    Institute of Scientific and Technical Information of China (English)

    Shawn; LEVY

    2010-01-01

    Osteoporosis is a highly heritable common bone disease leading to fractures that severely impair the life quality of patients.Wrist fractures caused by osteoporosis are largely due to the scarcity of wrist bone mass.Here we report the results of a genome-wide association study (GWAS) of wrist bone mineral density (BMD).We examined ~500000 SNP markers in 1000 unrelated homogeneous Caucasian subjects and found a novel allelic association with wrist BMD at rs11023787 in the SOX6 (SRY (sex determining region Y)-box 6) gene (P=9.00×10-5).Subjects carrying the C allele of rs11023787 in SOX6 had significantly higher mean wrist BMD values than those with the T allele (0.485:0.462 g cm-2 for C allele vs.T allele carriers).For validation,we performed SOX6 association for BMD in an independent Chinese sample and found that SNP rs11023787 was significantly associated with wrist BMD in the Chinese sample (P=6.41×10-3).Meta-analyses of the GWAS scan and the replication studies yielded P-values of 5.20×10-6 for rs11023787.Results of this study,together with the functional relevance of SOX6 in cartilage formation,support the SOX6 gene as an important gene for BMD variation.

  9. The inflammasome and danger associated molecular patterns (DAMPs) are implicated in cytokine and chemokine responses following stressor exposure.

    Science.gov (United States)

    Maslanik, Thomas; Mahaffey, Lucas; Tannura, Kate; Beninson, Lida; Greenwood, Benjamin N; Fleshner, Monika

    2013-02-01

    Exposure to stressors or trauma in the absence of pathogenic challenge can stimulate a systemic sterile inflammatory response characterized by high concentrations of blood and tissue cytokines, chemokines, and danger associated molecular patterns (DAMPs) such as heat shock protein-72 (Hsp72), and uric acid. The signaling pathways responsible for these responses remain unclear, however, the inflammasome may play a role. In vitro, DAMPs are known to stimulate the inflammasome in the presence of LPS to activate caspase-1 which cleaves immature precursors of interleukin (IL)-1β and IL-18 into their mature releasable forms. Furthermore, in vivo neutralization of the LPS selectively attenuates the stress-induced increase in the inflammasome-dependent cytokines IL-1β and IL-18. Thus, the current experiments tested the hypothesis that inflammasome-mediated processes are necessary for a systemic stress-induced inflammatory response to an acute stressor. The data presented (1) establish that male F344 rats exposed to an acute severe stressor (100 tail shocks) have elevated plasma concentrations of inflammatory proteins (IL-1β, IL-18, IL-6, IL-10, and monocyte chemotactic protein (MCP)-1), and DAMPs (uric acid and Hsp72); (2) demonstrate that inhibiting caspase-1 in vivo, using the caspase-1 inhibitor ac-YVAD-cmk, attenuates stress-induced production of IL-1β, IL-18, and IL-6 in both the circulation and peripheral tissues; and (3) implicates the DAMPs uric acid and Hsp72 as important signals contributing to inflammasome-dependent inflammatory responses using a stepwise multiple regression. The results increase our mechanistic understanding of systemic sterile inflammatory responses, and provide novel evidence that the inflammasome may be an important pharmacological target for treatment of these conditions. PMID:23103443

  10. Assessing exposure risk for dust storm events-associated lung function decrement in asthmatics and implications for control

    Science.gov (United States)

    Hsieh, Nan-Hung; Liao, Chung-Min

    2013-04-01

    Asian dust storms (ADS) events are seasonally-based meteorological phenomena that exacerbate chronic respiratory diseases. The purpose of this study was to assess human health risk from airborne dust exposure during ADS events in Taiwan. A probabilistic risk assessment framework was developed based on exposure and experimental data to quantify ADS events induced lung function decrement. The study reanalyzed experimental data from aerosol challenge in asthmatic individuals to construct the dose-response relationship between inhaled dust aerosol dose and decreasing percentage of forced expiratory volume in 1 s (%FEV1). An empirical lung deposition model was used to predict deposition fraction for size specific dust aerosols in pulmonary regions. The toxicokinetic and toxicodynamic models were used to simulate dust aerosols binding kinetics in lung airway in that %FEV1 change was also predicted. The mask respirators were applied to control the inhaled dose under dust aerosols exposure. Our results found that only 2% probability the mild ADS events were likely to cause %FEV1 decrement higher than 5%. There were 50% probability of decreasing %FEV1 exceeding 16.9, 18.9, and 7.1% in north, center, and south Taiwan under severe ADS events, respectively. Our result implicates that the use of activated carbon of mask respirators has the best efficacy for reducing inhaled dust aerosol dose, by which the %FEV1 decrement can be reduced up to less than 1%.

  11. Elevated Serum Ferritin Level Is Associated with the Incident Type 2 Diabetes in Healthy Korean Men: A 4 Year Longitudinal Study

    OpenAIRE

    Chang Hee Jung; Min Jung Lee; Jenie Yoonoo Hwang; Jung Eun Jang; Jaechan Leem; Joong-Yeol Park; JungBok Lee; Hong-Kyu Kim; Woo Je Lee

    2013-01-01

    BACKGROUND: Elevated ferritin concentration has been implicated in the etiology of type 2 diabetes. Accumulating evidence, mostly from studies conducted on western populations, has demonstrated a strong association between the elevated ferritin concentrations and incident type 2 diabetes. In Asian populations, however, the longitudinal studies investigating the association of elevated serum ferritin levels and type 2 diabetes are lacking. In present study, we aimed to determine whether elevat...

  12. Sialolithiasis is associated with nephrolithiasis: a case-control study.

    Science.gov (United States)

    Wu, Chuan-Chang; Hung, Shih-Han; Lin, Herng-Ching; Lee, Cha-Ze; Lee, Hsin-Chien; Chung, Shiu-Dong

    2016-05-01

    Conclusions This study demonstrates an association between sialolithiasis and nephrolithiasis. The results call for more awareness of this association among physicians and patients with nephrolithiasis. Objective Very few empirical studies have been conducted to explore the potential association between sialolithiasis and nephrolithiasis. As such, the association between sialolithiasis and nephrolithiasis still remains unclear. This study aimed to explore the possible association between sialolithiasis and nephrolithiasis using a population-based dataset. Methods Using data from the Taiwan Longitudinal Health Insurance Database 2005, this case-control study identified 966 patients with sialolithiasis as cases and 2898 sex- and age-matched subjects without sialolithiasis as controls. Conditional logistic regressions were conducted to examine the association of sialolithiasis with previously diagnosed nephrolithiasis. Results Out of 3864 sampled patients, 165 (4.27%) had prior nephrolithiasis. Using Chi-square test, it was found that there was a significant difference in the prevalence of prior nephrolithiasis between the cases and controls (10.25% vs 2.28%, p nephrolithiasis for cases was 4.74 (95% CI = 3.41-6.58, p < 0.001) when compared to controls after adjusting for monthly income, geographic location, urbanization level of residence, diabetes, hypertension, heart failure, chronic renal disease, and tobacco use. PMID:26808906

  13. Joint Analysis of Multiple Traits in Rare Variant Association Studies.

    Science.gov (United States)

    Wang, Zhenchuan; Wang, Xuexia; Sha, Qiuying; Zhang, Shuanglin

    2016-05-01

    The joint analysis of multiple traits has recently become popular since it can increase statistical power to detect genetic variants and there is increasing evidence showing that pleiotropy is a widespread phenomenon in complex diseases. Currently, the majority of existing methods for the joint analysis of multiple traits test association between one common variant and multiple traits. However, the variant-by-variant methods for common variant association studies may not be optimal for rare variant association studies due to the allelic heterogeneity as well as the extreme rarity of individual variants. Current statistical methods for rare variant association studies are for one single trait only. In this paper, we propose an adaptive weighting reverse regression (AWRR) method to test association between multiple traits and rare variants in a genomic region. AWRR is robust to the directions of effects of causal variants and is also robust to the directions of association of traits. Using extensive simulation studies, we compare the performance of AWRR with canonical correlation analysis (CCA), Single-TOW, and the weighted sum reverse regression (WSRR). Our results show that, in all of the simulation scenarios, AWRR is consistently more powerful than CCA. In most scenarios, AWRR is more powerful than Single-TOW and WSRR. PMID:26990300

  14. Delayed gastric emptying is associated with pylorus-preserving but not classical Whipple pancreaticoduodenectomy: A review of the literature and critical reappraisal of the implicated pathomechanism

    Institute of Scientific and Technical Information of China (English)

    Kosmas I Paraskevas; Costas Avgerinos; Costas Manes; Dimitris Lytras; Christos Dervenis

    2006-01-01

    Pylorus-preserving pancreaticoduodenectomy (PPPD)is nowadays considered the treatment of choice for periampullary tumors, namely carcinoma of the head,neck, or uncinate process of the pancreas, the ampulla of Vater, distal common bile duct or carcinoma of the peri-Vaterian duodenum. Delayed gastric emptying (DGE)comprises one of the most troublesome complications of this procedure. A search of the literature using Pubmed/Medline was performed to identify clinical trials examining the incidence rate of DGE following standard Whipple pancreaticoduodenectomy (PD) vs PPPD. Additionally we performed a thorough in-depth analysis of the implicated pathomechanism underlying the occurrence of DGE after PPPD. In contrast to early studies, the majority of recently performed clinical trials demonstrated no significant association between the occurrence of DGE with either PD or PPPD. PD and PPPD procedures are equally effective operations regarding the postoperative occurrence of DGE. Further randomized trials are required to investigate the efficacy of a recently reported (but not yet tested in largescale studies) modification, that is, PPPD with antecolic duodenojejunostomy.(C) 2006 The WJG Press. All rights reserved.

  15. Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.

    Directory of Open Access Journals (Sweden)

    Rico Rueedi

    2014-02-01

    Full Text Available Metabolic traits are molecular phenotypes that can drive clinical phenotypes and may predict disease progression. Here, we report results from a metabolome- and genome-wide association study on (1H-NMR urine metabolic profiles. The study was conducted within an untargeted approach, employing a novel method for compound identification. From our discovery cohort of 835 Caucasian individuals who participated in the CoLaus study, we identified 139 suggestively significant (P<5×10(-8 and independent associations between single nucleotide polymorphisms (SNP and metabolome features. Fifty-six of these associations replicated in the TasteSensomics cohort, comprising 601 individuals from São Paulo of vastly diverse ethnic background. They correspond to eleven gene-metabolite associations, six of which had been previously identified in the urine metabolome and three in the serum metabolome. Our key novel findings are the associations of two SNPs with NMR spectral signatures pointing to fucose (rs492602, P = 6.9×10(-44 and lysine (rs8101881, P = 1.2×10(-33, respectively. Fine-mapping of the first locus pinpointed the FUT2 gene, which encodes a fucosyltransferase enzyme and has previously been associated with Crohn's disease. This implicates fucose as a potential prognostic disease marker, for which there is already published evidence from a mouse model. The second SNP lies within the SLC7A9 gene, rare mutations of which have been linked to severe kidney damage. The replication of previous associations and our new discoveries demonstrate the potential of untargeted metabolomics GWAS to robustly identify molecular disease markers.

  16. Replication Study and Meta-Analysis in European Samples Supports Association of the 3p21.1 Locus with Bipolar Disorder

    DEFF Research Database (Denmark)

    Vassos, Evangelos; Steinberg, Stacy; Cichon, Sven; Breen, Gerome; Sigurdsson, Engilbert; Andreassen, Ole A; Djurovic, Srdjan; Morken, Gunnar; Grigoroiu-Serbanescu, Maria; Diaconu, Carmen C; Czerski, Piotr M; Hauser, Joanna; Babadjanova, Gulja; Abramova, Lilia I; Mühleisen, Thomas W; Nöthen, Markus M; Rietschel, Marcella; McGuffin, Peter; Clair, David St; Gustafsson, Omar; Melle, Ingrid; Pietiläinen, Olli P H; Ruggeri, Mirella; Tosato, Sarah; Werge, Thomas; Ophoff, Roel A; Rujescu, Dan; Børglum, Anders D; Mors, Ole; Mortensen, Preben B; Demontis, Ditte; Hollegaard, Mads V; van Winkel, Ruud; Kenis, Gunter; De Hert, Marc; Réthelyi, János M; Bitter, István; Rubino, I Alex; Golimbet, Vera; Kiemeney, Lambertus A; van den Berg, Leonard H; Franke, Barbara; Jönsson, Erik G; Farmer, Anne; Stefansson, Hreinn; Stefansson, Kari; Collier, David A

    2012-01-01

    Common genetic polymorphisms at chromosome 3p21.1, including rs2251219 in polybromo 1 (PBRM1), have been implicated in susceptibility to bipolar affective disorder (BP) through genome-wide association studies. Subsequent studies have suggested that this is also a risk locus for other psychiatric ...... phenotypes, including major depression and schizophrenia....

  17. Associations between ectomycorrhizal fungi and bacterial needle endophytes in Pinus radiata: implications for biotic selection of microbial communities

    Directory of Open Access Journals (Sweden)

    Megan Arlene Rúa

    2016-03-01

    Full Text Available Studies of the ecological and evolutionary relationships between plants and their associated microbes have long been focused on single microbes, or single microbial guilds, but in reality, plants associate with a diverse array of microbes from a varied set of guilds. As such, multitrophic interactions among plant-associated microbes from multiple guilds represent an area of developing research, and can reveal how complex microbial communities are structured around plants. Interactions between coniferous plants and their associated microbes provide a good model system for such studies, as conifers host a suite of microorganisms including mutualistic ectomycorrhizal (ECM fungi and foliar bacterial endophytes. To investigate the potential role ECM fungi play in structuring foliar bacterial endophyte communities, we sampled three isolated, native populations of Monterey pine (Pinus radiata, and used constrained analysis of principal coordinates to relate the community matrices of the ECM fungi and bacterial endophytes. Our results suggest that ECM fungi may be important factors for explaining variation in bacterial endophyte communities but this effect is influenced by population and environmental characteristics, emphasizing the potential importance of other factors — biotic or abiotic — in determining the composition of bacterial communities. We also classified ECM fungi into categories based on known fungal traits associated with substrate exploration and nutrient mobilization strategies since variation in these traits allows the fungi to acquire nutrients across a wide range of abiotic conditions and may influence the outcome of multi-species interactions. Across populations and environmental factors, none of the traits associated with fungal foraging strategy types significantly structured bacterial assemblages, suggesting these ECM fungal traits are not important for understanding endophyte-ECM interactions. Overall, our results suggest

  18. Associations between Ectomycorrhizal Fungi and Bacterial Needle Endophytes in Pinus radiata: Implications for Biotic Selection of Microbial Communities.

    Science.gov (United States)

    Rúa, Megan A; Wilson, Emily C; Steele, Sarah; Munters, Arielle R; Hoeksema, Jason D; Frank, Anna C

    2016-01-01

    Studies of the ecological and evolutionary relationships between plants and their associated microbes have long been focused on single microbes, or single microbial guilds, but in reality, plants associate with a diverse array of microbes from a varied set of guilds. As such, multitrophic interactions among plant-associated microbes from multiple guilds represent an area of developing research, and can reveal how complex microbial communities are structured around plants. Interactions between coniferous plants and their associated microbes provide a good model system for such studies, as conifers host a suite of microorganisms including mutualistic ectomycorrhizal (ECM) fungi and foliar bacterial endophytes. To investigate the potential role ECM fungi play in structuring foliar bacterial endophyte communities, we sampled three isolated, native populations of Monterey pine (Pinus radiata), and used constrained analysis of principal coordinates to relate the community matrices of the ECM fungi and bacterial endophytes. Our results suggest that ECM fungi may be important factors for explaining variation in bacterial endophyte communities but this effect is influenced by population and environmental characteristics, emphasizing the potential importance of other factors - biotic or abiotic - in determining the composition of bacterial communities. We also classified ECM fungi into categories based on known fungal traits associated with substrate exploration and nutrient mobilization strategies since variation in these traits allows the fungi to acquire nutrients across a wide range of abiotic conditions and may influence the outcome of multi-species interactions. Across populations and environmental factors, none of the traits associated with fungal foraging strategy types significantly structured bacterial assemblages, suggesting these ECM fungal traits are not important for understanding endophyte-ECM interactions. Overall, our results suggest that both biotic species

  19. Associations between Ectomycorrhizal Fungi and Bacterial Needle Endophytes in Pinus radiata: Implications for Biotic Selection of Microbial Communities

    Science.gov (United States)

    Rúa, Megan A.; Wilson, Emily C.; Steele, Sarah; Munters, Arielle R.; Hoeksema, Jason D.; Frank, Anna C.

    2016-01-01

    Studies of the ecological and evolutionary relationships between plants and their associated microbes have long been focused on single microbes, or single microbial guilds, but in reality, plants associate with a diverse array of microbes from a varied set of guilds. As such, multitrophic interactions among plant-associated microbes from multiple guilds represent an area of developing research, and can reveal how complex microbial communities are structured around plants. Interactions between coniferous plants and their associated microbes provide a good model system for such studies, as conifers host a suite of microorganisms including mutualistic ectomycorrhizal (ECM) fungi and foliar bacterial endophytes. To investigate the potential role ECM fungi play in structuring foliar bacterial endophyte communities, we sampled three isolated, native populations of Monterey pine (Pinus radiata), and used constrained analysis of principal coordinates to relate the community matrices of the ECM fungi and bacterial endophytes. Our results suggest that ECM fungi may be important factors for explaining variation in bacterial endophyte communities but this effect is influenced by population and environmental characteristics, emphasizing the potential importance of other factors — biotic or abiotic — in determining the composition of bacterial communities. We also classified ECM fungi into categories based on known fungal traits associated with substrate exploration and nutrient mobilization strategies since variation in these traits allows the fungi to acquire nutrients across a wide range of abiotic conditions and may influence the outcome of multi-species interactions. Across populations and environmental factors, none of the traits associated with fungal foraging strategy types significantly structured bacterial assemblages, suggesting these ECM fungal traits are not important for understanding endophyte-ECM interactions. Overall, our results suggest that both biotic

  20. Characterization of energy critical elements in ore resources and associated waste tailings: Implications for recovery and remediation

    Science.gov (United States)

    McClenaghan, Sean H.

    2015-04-01

    The occurrence of Energy Critical Elements (ECE) in primary ore minerals and their subsequent enrichment in waste tailings is of great metallurgical interest. Recovery of many ECEs, in particular In, Ge, and Ga have come chiefly as a by-product of base-metal production (smelting and refining); these elements are found only at very low levels in the Earth's crust and do not typically form economic deposits on their own. As the ECEs become more important for a growing number of technological applications, it is critical to map the distribution of these elements in ore and waste (gangue) minerals to optimize their recovery and remediation. The characterization and beneficiation of ECEs is best illustrated for Zn-rich ore systems, where a mineral such as sphalerite (ZnS) will concentrate a number of major (Fe, Mn) and important trace elements (Cd, Se, In, Ge, Te, Sn, Bi, Sb, Hg). Interestingly, the mineral chemistry of sphalerite will often differ between different styles of mineralization (i.e., granite-hosted veins versus volcanic-hosted massive sulfides) and can even exhibit considerable variability within a deposit in response to metal zonation across hydrothermal facies. This has significant metallurgical implications for the blending of ore resources, the efficient production of Zn concentrates, and their ultimate value during the smelting and refining stages. Gangue minerals transferred to waste tailings may also exhibit significant enrichment in ECEs and precious metals; including Au in pyrite-arsenopyrite, and rare earth elements in a range of carbonate and phosphate minerals. In situ micro-analytical techniques are ideal for the quantitative measurement of trace elements in ore minerals as well as associated gangue materials. Recent advances in ICP-MS and ICP-OES technology coupled with newer classes of UV Excimer lasers (native 193 nm light) have allowed for more discrete analyses, permitting micro-chemical mapping at small scales (<10 microns). Further

  1. A genome-wide association study of copy number variations with umbilical hernia in swine.

    Science.gov (United States)

    Long, Yi; Su, Ying; Ai, Huashui; Zhang, Zhiyan; Yang, Bin; Ruan, Guorong; Xiao, Shijun; Liao, Xinjun; Ren, Jun; Huang, Lusheng; Ding, Nengshui

    2016-06-01

    Umbilical hernia (UH) is one of the most common congenital defects in pigs, leading to considerable economic loss and serious animal welfare problems. To test whether copy number variations (CNVs) contribute to pig UH, we performed a case-control genome-wide CNV association study on 905 pigs from the Duroc, Landrace and Yorkshire breeds using the Porcine SNP60 BeadChip and penncnv algorithm. We first constructed a genomic map comprising 6193 CNVs that pertain to 737 CNV regions. Then, we identified eight CNVs significantly associated with the risk for UH in the three pig breeds. Six of seven significantly associated CNVs were validated using quantitative real-time PCR. Notably, a rare CNV (CNV14:13030843-13059455) encompassing the NUGGC gene was strongly associated with UH (permutation-corrected P = 0.0015) in Duroc pigs. This CNV occurred exclusively in seven Duroc UH-affected individuals. SNPs surrounding the CNV did not show association signals, indicating that rare CNVs may play an important role in complex pig diseases such as UH. The NUGGC gene has been implicated in human omphalocele and inguinal hernia. Our finding supports that CNVs, including the NUGGC CNV, contribute to the pathogenesis of pig UH. PMID:27028052

  2. Genome-Wide Association Studies of the Human Gut Microbiota.

    Directory of Open Access Journals (Sweden)

    Emily R Davenport

    Full Text Available The bacterial composition of the human fecal microbiome is influenced by many lifestyle factors, notably diet. It is less clear, however, what role host genetics plays in dictating the composition of bacteria living in the gut. In this study, we examined the association of ~200K host genotypes with the relative abundance of fecal bacterial taxa in a founder population, the Hutterites, during two seasons (n = 91 summer, n = 93 winter, n = 57 individuals collected in both. These individuals live and eat communally, minimizing variation due to environmental exposures, including diet, which could potentially mask small genetic effects. Using a GWAS approach that takes into account the relatedness between subjects, we identified at least 8 bacterial taxa whose abundances were associated with single nucleotide polymorphisms in the host genome in each season (at genome-wide FDR of 20%. For example, we identified an association between a taxon known to affect obesity (genus Akkermansia and a variant near PLD1, a gene previously associated with body mass index. Moreover, we replicate a previously reported association from a quantitative trait locus (QTL mapping study of fecal microbiome abundance in mice (genus Lactococcus, rs3747113, P = 3.13 x 10-7. Finally, based on the significance distribution of the associated microbiome QTLs in our study with respect to chromatin accessibility profiles, we identified tissues in which host genetic variation may be acting to influence bacterial abundance in the gut.

  3. Genome-wide Association Study of Biochemical Traits in Korčula Island, Croatia

    Science.gov (United States)

    Zemunik, Tatijana; Boban, Mladen; Lauc, Gordan; Janković, Stipan; Rotim, Krešimir; Vatavuk, Zoran; Benčić, Goran; Đogaš, Zoran; Boraska, Vesna; Torlak, Vesela; Sušac, Jelena; Zobić, Ivana; Rudan, Diana; Pulanić, Dražen; Modun, Darko; Mudnić, Ivana; Gunjača, Grgo; Budimir, Danijela; Hayward, Caroline; Vitart, Veronique; Wright, Alan F.; Campbell, Harry; Rudan, Igor

    2009-01-01

    Aim To identify genetic variants underlying biochemical traits – total cholesterol, low-density lipoprotein (LDL) cholesterol, high-density lipoprotein (HDL) cholesterol, triglycerides, uric acid, albumin, and fibrinogen, in a genome-wide association study in an isolated population where rare variants of larger effect may be more easily identified. Methods The study included 944 adult inhabitants of the island of Korčula, as a part of a larger DNA-based genetic epidemiological study in 2007. Biochemical measurements were performed in a single laboratory with stringent internal and external quality control procedures. Examinees were genotyped using Human Hap370CNV chip by Illumina, with a genome-wide scan containing 346 027 single nucleotide polymorphisms (SNP). Results A total of 31 SNPs were associated with 7 investigated traits at the level of P < 1.00 × 10−5. Nine of SNPs implicated the role of SLC2A9 in uric acid regulation (P = 4.10 × 10−6-2.58 × 10−12), as previously found in other populations. All 22 remaining associations fell into the P = 1.00 × 10−5-1.00 × 10−6 significance range. One of them replicated the association between cholesteryl ester transfer protein (CETP) and HDL, and 7 associations were more than 100 kilobases away from the closest known gene. Nearby SNPs, rs4767631 and rs10444502, in gene kinase suppressor of ras 2 (KSR2) on chromosome 12 were associated with LDL cholesterol levels, and rs10444502 in the same gene with total cholesterol levels. Similarly, rs2839619 in gene PBX/knotted 1 homeobox 1 (PKNOX1) on chromosome 21 was associated with total and LDL cholesterol levels. The remaining 9 findings implied possible associations between phosphatidylethanolamine N-methyltransferase (PEMT) gene and total cholesterol; USP46, RAP1GDS1, and ZCCHC16 genes and triglycerides; BCAT1 and SLC14A2 genes and albumin; and NR3C2, GRIK2, and PCSK2 genes and fibrinogen. Conclusion Although this study was

  4. Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma.

    Science.gov (United States)

    Chahal, Harvind S; Wu, Wenting; Ransohoff, Katherine J; Yang, Lingyao; Hedlin, Haley; Desai, Manisha; Lin, Yuan; Dai, Hong-Ji; Qureshi, Abrar A; Li, Wen-Qing; Kraft, Peter; Hinds, David A; Tang, Jean Y; Han, Jiali; Sarin, Kavita Y

    2016-01-01

    Basal cell carcinoma (BCC) is the most common cancer worldwide with an annual incidence of 2.8 million cases in the United States alone. Previous studies have demonstrated an association between 21 distinct genetic loci and BCC risk. Here, we report the results of a two-stage genome-wide association study of BCC, totalling 17,187 cases and 287,054 controls. We confirm 17 previously reported loci and identify 14 new susceptibility loci reaching genome-wide significance (P<5 × 10(-8), logistic regression). These newly associated SNPs lie within predicted keratinocyte regulatory elements and in expression quantitative trait loci; furthermore, we identify candidate genes and non-coding RNAs involved in telomere maintenance, immune regulation and tumour progression, providing deeper insight into the pathogenesis of BCC. PMID:27539887

  5. Beyond Endometriosis Genome-Wide Association Study: From Genomics to Phenomics to the Patient.

    Science.gov (United States)

    Zondervan, Krina T; Rahmioglu, Nilufer; Morris, Andrew P; Nyholt, Dale R; Montgomery, Grant W; Becker, Christian M; Missmer, Stacey A

    2016-07-01

    Endometriosis is a heritable, complex chronic inflammatory disease, for which much of the causal pathogenic mechanism remains unknown. Genome-wide association studies (GWAS) to date have identified 12 single nucleotide polymorphisms at 10 independent genetic loci associated with endometriosis. Most of these were more strongly associated with revised American Fertility Society stage III/IV, rather than stage I/II. The loci are almost all located in intergenic regions that are known to play a role in the regulation of expression of target genes yet to be identified. To identify the target genes and pathways perturbed by the implicated variants, studies are required involving functional genomic annotation of the surrounding chromosomal regions, in terms of transcription factor binding, epigenetic modification (e.g., DNA methylation and histone modification) sites, as well as their correlation with RNA transcription. These studies need to be conducted in tissue types relevant to endometriosis-in particular, endometrium. In addition, to allow biologically and clinically relevant interpretation of molecular profiling data, they need to be combined and correlated with detailed, systematically collected phenotypic information (surgical and clinical). The WERF Endometriosis Phenome and Biobanking Harmonisation Project is a global standardization initiative that has produced consensus data and sample collection protocols for endometriosis research. These now pave the way for collaborative studies integrating phenomic with genomic data, to identify informative subtypes of endometriosis that will enhance understanding of the pathogenic mechanisms of the disease and discovery of novel, targeted treatments. PMID:27513026

  6. Statistical trends in the Journal of the American Medical Association and implications for training across the continuum of medical education.

    Directory of Open Access Journals (Sweden)

    Lauren D Arnold

    Full Text Available BACKGROUND: Statistical training across the continuum of medical education may not have advanced at the pace of statistical reporting in the medical literature, yet a comprehensive understanding of statistical concepts most commonly presented in current research is critical to the effective practice of Evidence Based Medicine. The objective of this content analysis was to describe statistical techniques used in a leading medical journal, JAMA, across a 20-year period, with a focus on implications for medical education. METHODS AND FINDINGS: Two issues of JAMA published each month in 1990, 2000, and 2010 were randomly selected; from these, 361 articles were reviewed. Primary focus, study design, and statistical components were abstracted and examined by year of publication. The number of published RCTs and cohort studies differed significantly across years of interest, with an increasing trend of publication. The most commonly reported statistics over the 20-year period of interest included measures of morbidity and mortality, descriptive statistics, and epidemiologic outcomes. However, between 1990 and 2010, there was an increase in reporting of more advanced methods, such as multivariable regression, multilevel modeling, survival analysis, and sensitivity analysis. While this study is limited by a focus on one specific journal, a strength is that the journal examined is widely read by a range of clinical specialties and is considered a leading journal in the medical field, setting standards for published research. CONCLUSIONS: The increases in frequency and complexity of statistical reporting in the literature over the past two decades may suggest that moving beyond basic statistical concepts to a more comprehensive understanding of statistical methods is an important component of clinicians' ability to effectively read and use the medical research. These findings provide information to consider as medical schools and graduate medical education

  7. Genome-wide association implicates numerous genes and pleiotropy underlying ecological trait variation in natural populations of Populus trichocarpa

    Energy Technology Data Exchange (ETDEWEB)

    McKown, Athena [University of British Columbia, Vancouver; Klapste, Jaroslav [University of British Columbia, Vancouver; Guy, Robert [University of British Columbia, Vancouver; Geraldes, Armando [University of British Columbia, Vancouver; Porth, Ilga [University of British Columbia, Vancouver; Hannemann, Jan [University of Victoria, Canada; Friedmann, Michael [University of British Columbia, Vancouver; Muchero, Wellington [ORNL; Tuskan, Gerald A [ORNL; Ehlting, Juergen [University of Victoria, Canada; Cronk, Quentin [University of British Columbia, Vancouver; El-Kassaby, Yousry [University of British Columbia, Vancouver; Mansfield, Shawn [University of British Columbia, Vancouver; Douglas, Carl [University of British Columbia, Vancouver

    2014-01-01

    To uncover the genetic basis of phenotypic trait variation, we used 448 unrelated wild accessions of black cottonwood (Populus trichocarpa Torr. & Gray) from natural populations throughout western North America. Extensive information from large-scale trait phenotyping (with spatial and temporal replications within a common garden) and genotyping (with a 34K Populus SNP array) of all accessions were used for gene discovery in a genome-wide association study (GWAS).

  8. ASSOCIATIONS BETWEEN POST-TRAUMATIC STRESS DISORDER SYMPTOMS AND ALCOHOL AND OTHER DRUG PROBLEMS: IMPLICATIONS FOR SOCIAL WORK PRACTICE

    OpenAIRE

    Wiechelt, Shelly A.; Miller, Brenda A.; Smyth, Nancy J.; Maguin, Eugene

    2011-01-01

    This study examines the associations between alcohol and other drug problems (AOD) and post-traumatic stress disorder (PTSD) symptoms in 499 women recruited from outpatient treatment programs for AOD problems and the general community in western New York. The women were divided into three groups: no-AOD, past-AOD, and current-AOD. The current-AOD group was further subdivided into groups based on alcohol, marijuana, and cocaine misuse. Group comparisons on PTSD symptoms revealed that the curre...

  9. Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function

    NARCIS (Netherlands)

    D.B. Hancock (Dana); M. Eijgelsheim (Mark); J.B. Wilk (Jemma); S.A. Gharib (Sina); L.R. Loehr (Laura); K. Marciante (Kristin); N. Franceschini (Nora); Y.M.T.A. van Durme; T.H. Chen; R.G. Barr (Graham); M.B. Schabath (Matthew); D.J. Couper (David); G.G. Brusselle (Guy); B.M. Psaty (Bruce); P. Tikka-Kleemola (Päivi); J.I. Rotter (Jerome); A.G. Uitterlinden (André); A. Hofman (Albert); N.M. Punjabi (Naresh); F. Rivadeneira Ramirez (Fernando); A.C. Morrison (Alanna); P.L. Enright (Paul); K.E. North (Kari); S.R. Heckbert (Susan); T. Lumley (Thomas); B.H.Ch. Stricker (Bruno); G.T. O'Connor (George); S.J. London (Stephanie)

    2010-01-01

    textabstractSpirometric measures of lung function are heritable traits that reflect respiratory health and predict morbidity and mortality. We meta-analyzed genome-wide association studies for two clinically important lung-function measures: forced expiratory volume in the first second (FEV1) and it

  10. Genome-wide association study identifies 74 loci associated with educational attainment

    NARCIS (Netherlands)

    Okbay, Aysu; Beauchamp, Jonathan P.; Fontana, Mark Alan; Lee, James J.; Pers, Tune H.; Rietveld, Cornelius A.; Turley, Patrick; Chen, Guo-Bo; Emilsson, Valur; Meddens, S. Fleur W.; Oskarsson, Sven; Pickrell, Joseph K.; Thom, Kevin; Timshel, Pascal; de Vlaming, Ronald; Abdellaoui, Abdel; Ahluwalia, Tarunveer S.; Bacelis, Jonas; Baumbach, Clemens; Bjornsdottir, Gyda; Brandsma, Johannes H.; Concas, Maria Pina; Derringer, Jaime; Furlotte, Nicholas A.; Galesloot, Tessel E.; Girotto, Giorgia; Gupta, Richa; Hall, Leanne M.; Harris, Sarah E.; Hofer, Edith; Horikoshi, Momoko; Huffman, Jennifer E.; Kaasik, Kadri; Kalafati, Ioanna P.; Karlsson, Robert; Kong, Augustine; Lahti, Jari; van der Lee, Sven J.; de Leeuw, Christiaan; Lind, Penelope A.; Lindgren, Karl-Oskar; Liu, Tian; Mangino, Massimo; Marten, Jonathan; Mihailov, Evelin; Miller, Michael B.; van der Most, Peter J.; Oldmeadow, Christopher; Payton, Antony; Pervjakova, Natalia; Peyrot, Wouter J.; Qian, Yong; Raitakari, Olli; Rueedi, Rico; Salvi, Erika; Schmidt, Brge; Schraut, Katharina E.; Shi, Jianxin; Smith, Albert V.; Poot, Raymond A.; St Pourcain, Beate; Teumer, Alexander; Thorleifsson, Gudmar; Verweij, Niek; Vuckovic, Dragana; Wellmann, Juergen; Westra, Harm-Jan; Yang, Jingyun; Zhao, Wei; Zhu, Zhihong; Alizadeh, Behrooz Z.; Amin, Najaf; Bakshi, Andrew; Baumeister, Sebastian E.; Biino, Ginevra; Bonnelykke, Klaus; Boyle, Patricia A.; Campbell, Harry; Cappuccio, Francesco P.; Davies, Gail; De Neve, Jan-Emmanuel; Deloukas, Panos; Demuth, Ilja; Ding, Jun; Eibich, Peter; Eisele, Lewin; Eklund, Niina; Evans, David M.; Faul, Jessica D.; Feitosa, Mary F.; Forstner, Andreas J.; Gandin, Ilaria; Gunnarsson, Bjarni; Halldorsson, Bjarni V.; Harris, Tamara B.; Heath, Andrew C.; Hocking, Lynne J.; Holliday, Elizabeth G.; Homuth, Georg; Horan, Michael A.; Hottenga, Jouke-Jan; de Jager, Philip L.; Joshi, Peter K.; Jugessur, Astanand; Kaakinen, Marika A.; Kahonen, Mika; Kanoni, Stavroula; Keltigangas-Jarvinen, Liisa; Kiemeney, Lambertus A. L. M.; Kolcic, Ivana; Koskinen, Seppo; Kraja, Aldi T.; Kroh, Martin; Kutalik, Zoltan; Latvala, Antti; Launer, Lenore J.; Lebreton, Mael P.; Levinson, Douglas F.; Lichtenstein, Paul; Lichtner, Peter; Liewald, David C. M.; Loukola, Anu; Madden, Pamela A.; Magi, Reedik; Maki-Opas, Tomi; Marioni, Riccardo E.; Marques-Vidal, Pedro; Meddens, Gerardus A.; McMahon, George; Meisinger, Christa; Meitinger, Thomas; Milaneschi, Yusplitri; Milani, Lili; Montgomery, Grant W.; Myhre, Ronny; Nelson, Christopher P.; Nyholt, Dale R.; Ollier, William E. R.; Palotie, Aarno; Paternoster, Lavinia; Pedersen, Nancy L.; Petrovic, Katja E.; Porteous, David J.; Raikkonen, Katri; Ring, Susan M.; Robino, Antonietta; Rostapshova, Olga; Rudan, Igor; Rustichini, Aldo; Salomaa, Veikko; Sanders, Alan R.; Sarin, Antti-Pekka; Schmidt, Helena; Scott, Rodney J.; Smith, Blair H.; Smith, Jennifer A.; Staessen, Jan A.; Steinhagen-Thiessen, Elisabeth; Strauch, Konstantin; Terracciano, Antonio; Tobin, Martin D.; Ulivi, Sheila; Vaccargiu, Simona; Quaye, Lydia; van Rooij, Frank J. A.; Venturini, Cristina; Vinkhuyzen, Anna A. E.; Volker, Uwe; Volzke, Henry; Vonk, Judith M.; Waage, Johannes; Ware, Erin B.; Willemsen, Gonneke; Attia, John R.; Bennett, David A.; Berger, Klaus; Bertram, Lars; Bisgaard, Hans; Boomsma, Dorret I.; Borecki, Ingrid B.; Bultmann, Ute; Chabris, Christopher F.; Cucca, Francesco; Cusi, Daniele; Deary, Ian J.; Dedoussis, George V.; van Duijn, Cornelia M.; Eriksson, Johan G.; Franke, Barbara; Franke, Lude; Gasparini, Paolo; Gejman, Pablo V.; Gieger, Christian; Grabe, Hans-Jorgen; Gratten, Jacob; Groenen, Patrick J. F.; Gudnason, Vilmundur; van der Harst, Pim; Hayward, Caroline; Hinds, David A.; Hoffmann, Wolfgang; Hyppnen, Elina; Iacono, William G.; Jacobsson, Bo; Jarvelin, Marjo-Riitta; Jockel, Karl-Heinz; Kaprio, Jaakko; Kardia, Sharon L. R.; Lehtimaki, Terho; Lehrer, Steven F.; Magnusson, Patrik K. E.; Martin, Nicholas G.; McGue, Matt; Metspalu, Andres; Pendleton, Neil; Penninx, Brenda W. J. H.; Perola, Markus; Pirastu, Nicola; Pirastu, Mario; Polasek, Ozren; Posthuma, Danielle; Power, Christine; Province, Michael A.; Samani, Nilesh J.; Schlessinger, David; Schmidt, Reinhold; Sorensen, Thorkild I. A.; Spector, Tim D.; Stefansson, Kari; Thorsteinsdottir, Unnur; Thurik, A. Roy; Timpson, Nicholas J.; Tiemeier, Henning; Tung, Joyce Y.; Uitterlinden, Andre G.; Vitart, Veronique; Vollenweider, Peter; Weir, David R.; Wilson, James F.; Wright, Alan F.; Conley, Dalton C.; Krueger, Robert F.; Smith, George Davey; Hofman, Albert; Laibson, David I.; Medland, Sarah E.; Meyer, Michelle N.; Yang, Jian; Johannesson, Magnus; Visscher, Peter M.; Esko, Tonu; Koellinger, Philipp D.; Cesarini, David; Benjamin, Daniel J.

    2016-01-01

    Educational attainment is strongly influenced by social and other environmental factors, but genetic factors are estimated to account for at least 20% of the variation across individuals(1). Here we report the results of a genome-wide association study (GWAS) for educational attainment that extends

  11. Metagenome-wide association studies: fine-mining the microbiome.

    Science.gov (United States)

    Wang, Jun; Jia, Huijue

    2016-08-01

    Metagenome-wide association studies (MWAS) have enabled the high-resolution investigation of associations between the human microbiome and several complex diseases, including type 2 diabetes, obesity, liver cirrhosis, colorectal cancer and rheumatoid arthritis. The associations that can be identified by MWAS are not limited to the identification of taxa that are more or less abundant, as is the case with taxonomic approaches, but additionally include the identification of microbial functions that are enriched or depleted. In this Review, we summarize recent findings from MWAS and discuss how these findings might inform the prevention, diagnosis and treatment of human disease in the future. Furthermore, we highlight the need to better characterize the biology of many of the bacteria that are found in the human microbiota as an essential step in understanding how bacterial strains that have been identified by MWAS are associated with disease. PMID:27396567

  12. Short-term Exposure to Microgravity and the Associated Risk of Sudden Cardiac Arrest: Implications for Commercial Spaceflight

    Science.gov (United States)

    Laing, Kevin J. C.; Russamono, Thais

    2013-02-01

    The likelihood of trained astronauts developing a life threatening cardiac event during spaceflight is relatively rare, whilst the incidence in untrained individuals is unknown. Space tourists who live a sedentary lifestyle have reduced cardiovascular function, but the associated danger of sudden cardiac arrest (SCA) during a suborbital spaceflight (SOSF) is unclear. Risk during SOSF was examined by reviewing several microgravity studies and methods of determining poor cardiovascular condition. Accurately assessing cardiovascular function and improving baroreceptor sensitivity through exercise is suggested to reduce the incidence of SCA during future SOSFs. Future studies will benefit from past participants sharing medical history; allowing creation of risk profiles and suitable guidelines.

  13. Genome wide association study on early puberty in Bos indicus.

    Science.gov (United States)

    Nascimento, A V; Matos, M C; Seno, L O; Romero, A R S; Garcia, J F; Grisolia, A B

    2016-01-01

    The aim of this study was to evaluate a genome wide association study (GWAS) approach to identify single nucleotide polymorphisms (SNPs) associated with fertility traits (early puberty) in Nellore cattle (Bos indicus). Fifty-five Nellore cows were selected from a herd monitored for early puberty onset (positive pregnancy at 18 months of age). Extremes of this phenotype were selected; 30 and 25 individuals were pregnant and non-pregnant, respectively, at that age. DNA samples were genotyped using a high-density SNP chip (>777.000 SNP). GWAS using a case-control strategy highlighted a number of significant markers based on their proximity with the Bonferroni correction line. Results indicated that chromosomes 5, 6, 9, 10, and 22 were associated with the traits of interest. The most significant SNPs on these chromosomes were rs133039577, rs110013280, rs134702839, rs109551605, and rs41639155. Candidate genes, as well as quantitative trait loci (QTL) previously reported in the Ensembl and Cattle QTLdb databases, were further investigated. Analysis of the regions close to the SNP on chromosomes 9 and 10 revealed that four QTL had been previously classified under the reproduction category. In conclusion, we have identified SNPs in close proximity to genes associated with reproductive traits. Moreover, U6 spliceosomal RNA was present on three different chromosomes, which is possibly associated with age at first calving, suggesting that it might be a strong candidate for future studies. PMID:26909970

  14. Recently studied sedimentary records from the eastern Arabian Sea: Implications to Holocene monsoonal variability

    Digital Repository Service at National Institute of Oceanography (India)

    Agnihotri, R.; Kurian, S.

    ://www.earthscienceindia.info/Agnihotri.htm 1 of 14 10/15/2008 9:41 AM Earth Science India Vol.1 (IV), October, 2008, pp. 258-287 http://www.earthscienceindia.info/ Recently studied sedimentary records from the eastern Arabian Sea: Implications to Holocene monsoonal variability Rajesh... biogenic (organic and inorganic) proxies with minimal particle reworking through bioturbation. Agnihotri http://www.earthscienceindia.info/Agnihotri.htm 2 of 14 10/15/2008 9:41 AM Figure 1: Satellite pictures of the Arabian Sea revealing seasonal contrast...

  15. The association of aggressive and chronic periodontitis with systemic manifestations and dental anomalies in a jordanian population: a case control study

    OpenAIRE

    Karasneh Jumana A; Abbadi Muna S; Taha Anas H; Ababneh Khansa T; Khader Yousef S

    2010-01-01

    Abstract Background The relationship between dental anomalies and periodontitis has not been documented by earlier studies. Although psychological factors have been implicated in the etiopathogenesis of periodontitis, very little information has so far been published about the association of anxiety and depression with aggressive periodontitis. The aim of this study was to investigate the association of chronic periodontitis and aggressive periodontitis with certain systemic manifestations an...

  16. Optimal use of video for teaching the practical implications of studying business information systems:- a case study among of first semester business students

    OpenAIRE

    Fog, Benedikte; Ulfkjær, Jacob Kanneworff Stigsen; Schlichter, Bjarne Rerup

    2013-01-01

    The study of business information systems has become increasingly important in the Digital Economy. However, it has been found that students have difficulties understanding the practical implications thereof and this leads to a motivational decreases. This study aims to investigate how to optimize the use of video to increase comprehension of the practical implications of studying business information systems. This qualitative study is based on observations and focus group interviews with fir...

  17. From Mental Game to Cultural Praxis: A Cultural Studies Model's Implications for the Future of Sport Psychology

    Science.gov (United States)

    Ryba, Tatiana V.; Wright, Handel Kashope

    2005-01-01

    This paper explores the implications of a cultural studies as praxis heuristic "model: for transforming sport psychology". It provides a brief introduction to both cultural studies and sport psychology and discusses a cultural studies intersection with sport studies and sport psychology. Cultural studies, it asserts, provides one of several…

  18. Association between Helicobacter pylori seropositivity and mild to moderate COPD: clinical implications in an Asian country with a high prevalence of H. pylori

    Science.gov (United States)

    Lee, Ha Youn; Kim, Ji Won; Lee, Jung Kyu; Heo, Eun Young; Chung, Hee Soon; Kim, Deog Keom

    2016-01-01

    Background Helicobacter pylori infection is a major cause of gastric diseases. The clinical implications of H. pylori infection in various diseases outside the gastrointestinal system have also been reported, including in some respiratory disorders. In this study, we investigated the seroprevalence of H. pylori in patients with mild to moderate COPD in an Asian country with a high prevalence of H. pylori infection. Also, we aimed to elucidate the association between the seroprevalence of H. pylori and the decline of lung function in patients with COPD. Methods Participants who underwent a medical checkup for H. pylori at a referral hospital in Korea were recruited for this study. All participants were tested for H. pylori infection using an immunoassay of the H. pylori-specific immunoglobulin G (IgG) concentration and a rapid urease test at the time of endoscopy with a gastric mucosal specimen. We assessed the decline in lung function using the spirometric data of those who underwent spirometry more than three times. Results In total, 603 participants (201 patients with COPD and 402 controls) were analyzed. The seroprevalence of H. pylori IgG in the patients and controls was 45.8% and 52.2%, respectively (P=0.134). The H. pylori IgG level in patients with COPD was not significantly different from that of the controls (114.8 and 109.6 units/mL, respectively; P=0.549). In addition, there were no significant differences in the annual forced expiratory volume in 1 second or forced vital capacity between the participants with H. pylori seropositivity and seronegativity. Conclusion This study showed no relationship between H. pylori infection and COPD in a country with a high burden of H. pylori infection. Furthermore, H. pylori infection did not affect the rate of lung function decline in this study population.

  19. Genes in the ureteric budding pathway: association study on vesico-ureteral reflux patients.

    Directory of Open Access Journals (Sweden)

    Albertien M van Eerde

    Full Text Available Vesico-ureteral reflux (VUR is the retrograde passage of urine from the bladder to the urinary tract and causes 8.5% of end-stage renal disease in children. It is a complex genetic developmental disorder, in which ectopic embryonal ureteric budding is implicated in the pathogenesis. VUR is part of the spectrum of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT. We performed an extensive association study for primary VUR using a two-stage, case-control design, investigating 44 candidate genes in the ureteric budding pathway in 409 Dutch VUR patients. The 44 genes were selected from the literature and a set of 567 single nucleotide polymorphisms (SNPs capturing their genetic variation was genotyped in 207 cases and 554 controls. The 14 SNPs with p<0.005 were included in a follow-up study in 202 cases and 892 controls. Of the total cohort, ~50% showed a clear-cut primary VUR phenotype and ~25% had both a duplex collecting system and VUR. We also looked for association in these two extreme phenotype groups. None of the SNPs reached a significant p-value. Common genetic variants in four genes (GREM1, EYA1, ROBO2 and UPK3A show a trend towards association with the development of primary VUR (GREM1, EYA1, ROBO2 or duplex collecting system (EYA1 and UPK3A. SNPs in three genes (TGFB1, GNB3 and VEGFA have been shown to be associated with VUR in other populations. Only the result of rs1800469 in TGFB1 hinted at association in our study. This is the first extensive study of common variants in the genes of the ureteric budding pathway and the genetic susceptibility to primary VUR.

  20. Association between Carotid Artery Stenosis and Cognitive Impairment in Stroke Patients: A Cross-Sectional Study.

    Directory of Open Access Journals (Sweden)

    Wei Yue

    Full Text Available To investigate potential associations between carotid artery stenosis and cognitive impairment among patients with acute ischemic stroke and to provide important clinical implications. We measured the degree of carotid artery stenosis and recorded the Mini-Mental State Examination score (MMSE at admission in 3116 acute ischemic stroke patients. The association between carotid stenosis and cognitive impairment assessed by MMSE was tested using multivariate regression analysis. Other clinical variables of interest were also studied. After adjusting for age, gender, education level, marriage, alcohol use, tobacco use, physical activity, hypertension, diabetes, hypercholesterolemia, atrial fibrillation, myocardial infarction and NIHSS (National Institutes of Health Stroke Scale score, we found that participants with high-grade stenosis of the carotid artery had a higher likelihood of cognitive impairment compared to those without carotid artery stenosis (OR = 1.49, 95%CI: 1.05-2.11, p<0.001. Left common carotid artery stenosis was associated with cognitive impairment in the univariate analysis, although this effect did not persist after adjustment for the NIHSS score. Cognitive impairment was associated with high-grade stenosis of the right carotid artery.

  1. Organizational and market factors associated with leadership development programs in hospitals: a national study.

    Science.gov (United States)

    Kim, Tae Hyun; Thompson, Jon M

    2012-01-01

    Effective leadership in hospitals is widely recognized as the key to organizational performance. Clinical, financial, and operational performance is increasingly being linked to the leadership practices of hospital managers. Moreover, effective leadership has been described as a means to achieve competitive advantage. Recent environmental forces, including reimbursement changes and increased competition, have prompted many hospitals to focus on building leadership competencies to successfully address these challenges. Using the resource dependence theory as our conceptual framework, we present results from a national study of hospitals examining the association of organizational and market factors with the provision of leadership development program activities, including the presence of a leadership development program, a diversity plan, a program for succession planning, and career development resources. The data are taken from the American Hospital Association's (AHA) 2008 Survey of Hospitals, the Area Resource File, and the Centers for Medicare & Medicaid Services. The results of multilevel logistic regressions of each leadership development program activity on organizational and market factors indicate that hospital size, system and network affiliation, and accreditation are significantly and positively associated with all leadership development program activities. The market factors significantly associated with all leadership development activities include a positive odds ratio for metropolitan statistical area location and a negative odds ratio for the percentage of the hospital's service area population that is female and minority. For-profit hospitals are less likely to provide leadership development program activities. Additional findings are presented, and the implications for hospital management are discussed. PMID:22530292

  2. Increased mortality associated with HTLV-II infection in blood donors: a prospective cohort study

    Directory of Open Access Journals (Sweden)

    Smith James W

    2004-03-01

    Full Text Available Abstract Background HTLV-I is associated with adult T-cell leukemia, and both HTLV-I and -II are associated with HTLV-associated myelopathy/tropical spastic paraparesis (HAM/TSP. Several published reports suggest that HTLV-I may lead to decreased survival, but HTLV-II has not previously been associated with mortality. Results We examined deaths among 138 HTLV-I, 358 HTLV-II, and 759 uninfected controls enrolled in a prospective cohort study of U.S. blood donors followed biannually since 1992. Proportional hazards models yielded hazard ratios (HRs for the association between mortality and HTLV infection, controlling for sex, race/ethnicity, age, income, educational level, blood center, smoking, injection drug use history, alcohol intake, hepatitis C status and autologous donation. After a median follow-up of 8.6 years, there were 45 confirmed subject deaths. HTLV-I infection did not convey a statistically significant excess risk of mortality (unadjusted HR 1.9, 95%CI 0.8–4.4; adjusted HR 1.9, 95%CI 0.8–4.6. HTLV-II was associated with death in both the unadjusted model (HR 2.8, 95%CI 1.5–5.5 and in the adjusted model (HR 2.3, 95%CI 1.1–4.9. No single cause of death appeared responsible for the HTLV-II effect. Conclusions After adjusting for known and potential confounders, HTLV-II infection is associated with increased mortality among healthy blood donors. If replicated in other cohorts, this finding has implications for both HTLV pathogenesis and counseling of infected persons.

  3. Porcine NAMPT gene: search for polymorphism, mapping and association studies

    Czech Academy of Sciences Publication Activity Database

    Čepica, Stanislav; Bartenschlager, H.; Óvilo, C.; Zrůstová, J.; Masopust, Martin; Fernández, A.; López, A.; Knoll, Aleš; Rohrer, G. A.; Snelling, W. M.; Geldermann, H.

    2010-01-01

    Roč. 41, č. 6 (2010), s. 646-651. ISSN 0268-9146 R&D Projects: GA ČR GA523/07/0353 Institutional research plan: CEZ:AV0Z50450515 Keywords : association study * carcass compositio * genetic mapping Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 2.203, year: 2010

  4. Genome-wide association study identifies five new schizophrenia loci

    DEFF Research Database (Denmark)

    Ripke, Stephan; Sanders, Alan R; Kendler, Kenneth S;

    2011-01-01

    We examined the role of common genetic variation in schizophrenia in a genome-wide association study of substantial size: a stage 1 discovery sample of 21,856 individuals of European ancestry and a stage 2 replication sample of 29,839 independent subjects. The combined stage 1 and 2 analysis...

  5. SNPTrack™ : an integrated bioinformatics system for genetic association studies.

    Science.gov (United States)

    Xu, Joshua; Kelly, Reagan; Zhou, Guangxu; Turner, Steven A; Ding, Don; Harris, Stephen C; Hong, Huixiao; Fang, Hong; Tong, Weida

    2012-01-01

    A genetic association study is a complicated process that involves collecting phenotypic data, generating genotypic data, analyzing associations between genotypic and phenotypic data, and interpreting genetic biomarkers identified. SNPTrack is an integrated bioinformatics system developed by the US Food and Drug Administration (FDA) to support the review and analysis of pharmacogenetics data resulting from FDA research or submitted by sponsors. The system integrates data management, analysis, and interpretation in a single platform for genetic association studies. Specifically, it stores genotyping data and single-nucleotide polymorphism (SNP) annotations along with study design data in an Oracle database. It also integrates popular genetic analysis tools, such as PLINK and Haploview. SNPTrack provides genetic analysis capabilities and captures analysis results in its database as SNP lists that can be cross-linked for biological interpretation to gene/protein annotations, Gene Ontology, and pathway analysis data. With SNPTrack, users can do the entire stream of bioinformatics jobs for genetic association studies. SNPTrack is freely available to the public at http://www.fda.gov/ScienceResearch/BioinformaticsTools/SNPTrack/default.htm. PMID:23245293

  6. Genome-Wide Association Study of Serum Selenium Concentrations

    Directory of Open Access Journals (Sweden)

    Ulrike Peters

    2013-05-01

    Full Text Available Selenium is an essential trace element and circulating selenium concentrations have been associated with a wide range of diseases. Candidate gene studies suggest that circulating selenium concentrations may be impacted by genetic variation; however, no study has comprehensively investigated this hypothesis. Therefore, we conducted a two-stage genome-wide association study to identify genetic variants associated with serum selenium concentrations in 1203 European descents from two cohorts: the Prostate, Lung, Colorectal, and Ovarian (PLCO Cancer Screening and the Women’s Health Initiative (WHI. We tested association between 2,474,333 single nucleotide polymorphisms (SNPs and serum selenium concentrations using linear regression models. In the first stage (PLCO 41 SNPs clustered in 15 regions had p < 1 × 10−5. None of these 41 SNPs reached the significant threshold (p = 0.05/15 regions = 0.003 in the second stage (WHI. Three SNPs had p < 0.05 in the second stage (rs1395479 and rs1506807 in 4q34.3/AGA-NEIL3; and rs891684 in 17q24.3/SLC39A11 and had p between 2.62 × 10−7 and 4.04 × 10−7 in the combined analysis (PLCO + WHI. Additional studies are needed to replicate these findings. Identification of genetic variation that impacts selenium concentrations may contribute to a better understanding of which genes regulate circulating selenium concentrations.

  7. Academic Over- and Underachievement and Residence Patterns: An Associative Study.

    Science.gov (United States)

    Weislogel, Louis F.

    The purpose of this study was to examine the impact of various types of living accommodations on the academic performance of college freshmen at West Chester State College (Pennsylvania). Three types of housing were defined: single-sex dormitories, coeducational dormitories, and commuter living accommodations. The association of housing…

  8. Genome-wide association study identifies five new schizophrenia loci

    DEFF Research Database (Denmark)

    Ripke, Stephan; Sanders, Alan R; Kendler, Kenneth S;

    2011-01-01

    We examined the role of common genetic variation in schizophrenia in a genome-wide association study of substantial size: a stage 1 discovery sample of 21,856 individuals of European ancestry and a stage 2 replication sample of 29,839 independent subjects. The combined stage 1 and 2 analysis yiel...

  9. Genome-wide association study identifies 74 loci associated with educational attainment.

    Science.gov (United States)

    Okbay, Aysu; Beauchamp, Jonathan P; Fontana, Mark Alan; Lee, James J; Pers, Tune H; Rietveld, Cornelius A; Turley, Patrick; Chen, Guo-Bo; Emilsson, Valur; Meddens, S Fleur W; Oskarsson, Sven; Pickrell, Joseph K; Thom, Kevin; Timshel, Pascal; de Vlaming, Ronald; Abdellaoui, Abdel; Ahluwalia, Tarunveer S; Bacelis, Jonas; Baumbach, Clemens; Bjornsdottir, Gyda; Brandsma, Johannes H; Pina Concas, Maria; Derringer, Jaime; Furlotte, Nicholas A; Galesloot, Tessel E; Girotto, Giorgia; Gupta, Richa; Hall, Leanne M; Harris, Sarah E; Hofer, Edith; Horikoshi, Momoko; Huffman, Jennifer E; Kaasik, Kadri; Kalafati, Ioanna P; Karlsson, Robert; Kong, Augustine; Lahti, Jari; van der Lee, Sven J; deLeeuw, Christiaan; Lind, Penelope A; Lindgren, Karl-Oskar; Liu, Tian; Mangino, Massimo; Marten, Jonathan; Mihailov, Evelin; Miller, Michael B; van der Most, Peter J; Oldmeadow, Christopher; Payton, Antony; Pervjakova, Natalia; Peyrot, Wouter J; Qian, Yong; Raitakari, Olli; Rueedi, Rico; Salvi, Erika; Schmidt, Börge; Schraut, Katharina E; Shi, Jianxin; Smith, Albert V; Poot, Raymond A; St Pourcain, Beate; Teumer, Alexander; Thorleifsson, Gudmar; Verweij, Niek; Vuckovic, Dragana; Wellmann, Juergen; Westra, Harm-Jan; Yang, Jingyun; Zhao, Wei; Zhu, Zhihong; Alizadeh, Behrooz Z; Amin, Najaf; Bakshi, Andrew; Baumeister, Sebastian E; Biino, Ginevra; Bønnelykke, Klaus; Boyle, Patricia A; Campbell, Harry; Cappuccio, Francesco P; Davies, Gail; De Neve, Jan-Emmanuel; Deloukas, Panos; Demuth, Ilja; Ding, Jun; Eibich, Peter; Eisele, Lewin; Eklund, Niina; Evans, David M; Faul, Jessica D; Feitosa, Mary F; Forstner, Andreas J; Gandin, Ilaria; Gunnarsson, Bjarni; Halldórsson, Bjarni V; Harris, Tamara B; Heath, Andrew C; Hocking, Lynne J; Holliday, Elizabeth G; Homuth, Georg; Horan, Michael A; Hottenga, Jouke-Jan; de Jager, Philip L; Joshi, Peter K; Jugessur, Astanand; Kaakinen, Marika A; Kähönen, Mika; Kanoni, Stavroula; Keltigangas-Järvinen, Liisa; Kiemeney, Lambertus A L M; Kolcic, Ivana; Koskinen, Seppo; Kraja, Aldi T; Kroh, Martin; Kutalik, Zoltan; Latvala, Antti; Launer, Lenore J; Lebreton, Maël P; Levinson, Douglas F; Lichtenstein, Paul; Lichtner, Peter; Liewald, David C M; Loukola, Anu; Madden, Pamela A; Mägi, Reedik; Mäki-Opas, Tomi; Marioni, Riccardo E; Marques-Vidal, Pedro; Meddens, Gerardus A; McMahon, George; Meisinger, Christa; Meitinger, Thomas; Milaneschi, Yusplitri; Milani, Lili; Montgomery, Grant W; Myhre, Ronny; Nelson, Christopher P; Nyholt, Dale R; Ollier, William E R; Palotie, Aarno; Paternoster, Lavinia; Pedersen, Nancy L; Petrovic, Katja E; Porteous, David J; Räikkönen, Katri; Ring, Susan M; Robino, Antonietta; Rostapshova, Olga; Rudan, Igor; Rustichini, Aldo; Salomaa, Veikko; Sanders, Alan R; Sarin, Antti-Pekka; Schmidt, Helena; Scott, Rodney J; Smith, Blair H; Smith, Jennifer A; Staessen, Jan A; Steinhagen-Thiessen, Elisabeth; Strauch, Konstantin; Terracciano, Antonio; Tobin, Martin D; Ulivi, Sheila; Vaccargiu, Simona; Quaye, Lydia; van Rooij, Frank J A; Venturini, Cristina; Vinkhuyzen, Anna A E; Völker, Uwe; Völzke, Henry; Vonk, Judith M; Vozzi, Diego; Waage, Johannes; Ware, Erin B; Willemsen, Gonneke; Attia, John R; Bennett, David A; Berger, Klaus; Bertram, Lars; Bisgaard, Hans; Boomsma, Dorret I; Borecki, Ingrid B; Bültmann, Ute; Chabris, Christopher F; Cucca, Francesco; Cusi, Daniele; Deary, Ian J; Dedoussis, George V; van Duijn, Cornelia M; Eriksson, Johan G; Franke, Barbara; Franke, Lude; Gasparini, Paolo; Gejman, Pablo V; Gieger, Christian; Grabe, Hans-Jörgen; Gratten, Jacob; Groenen, Patrick J F; Gudnason, Vilmundur; van der Harst, Pim; Hayward, Caroline; Hinds, David A; Hoffmann, Wolfgang; Hyppönen, Elina; Iacono, William G; Jacobsson, Bo; Järvelin, Marjo-Riitta; Jöckel, Karl-Heinz; Kaprio, Jaakko; Kardia, Sharon L R; Lehtimäki, Terho; Lehrer, Steven F; Magnusson, Patrik K E; Martin, Nicholas G; McGue, Matt; Metspalu, Andres; Pendleton, Neil; Penninx, Brenda W J H; Perola, Markus; Pirastu, Nicola; Pirastu, Mario; Polasek, Ozren; Posthuma, Danielle; Power, Christine; Province, Michael A; Samani, Nilesh J; Schlessinger, David; Schmidt, Reinhold; Sørensen, Thorkild I A; Spector, Tim D; Stefansson, Kari; Thorsteinsdottir, Unnur; Thurik, A Roy; Timpson, Nicholas J; Tiemeier, Henning; Tung, Joyce Y; Uitterlinden, André G; Vitart, Veronique; Vollenweider, Peter; Weir, David R; Wilson, James F; Wright, Alan F; Conley, Dalton C; Krueger, Robert F; Davey Smith, George; Hofman, Albert; Laibson, David I; Medland, Sarah E; Meyer, Michelle N; Yang, Jian; Johannesson, Magnus; Visscher, Peter M; Esko, Tõnu; Koellinger, Philipp D; Cesarini, David; Benjamin, Daniel J

    2016-05-26

    Educational attainment is strongly influenced by social and other environmental factors, but genetic factors are estimated to account for at least 20% of the variation across individuals. Here we report the results of a genome-wide association study (GWAS) for educational attainment that extends our earlier discovery sample of 101,069 individuals to 293,723 individuals, and a replication study in an independent sample of 111,349 individuals from the UK Biobank. We identify 74 genome-wide significant loci associated with the number of years of schooling completed. Single-nucleotide polymorphisms associated with educational attainment are disproportionately found in genomic regions regulating gene expression in the fetal brain. Candidate genes are preferentially expressed in neural tissue, especially during the prenatal period, and enriched for biological pathways involved in neural development. Our findings demonstrate that, even for a behavioural phenotype that is mostly environmentally determined, a well-powered GWAS identifies replicable associated genetic variants that suggest biologically relevant pathways. Because educational attainment is measured in large numbers of individuals, it will continue to be useful as a proxy phenotype in efforts to characterize the genetic influences of related phenotypes, including cognition and neuropsychiatric diseases. PMID:27225129

  10. Evolution of bimodal volcanism in Gona, Ethiopia: geochemical associations and geodynamic implications for the East African Rift System

    Science.gov (United States)

    Ghosh, N.; Basu, A. R.; Gregory, R. T.; Richards, I.; Quade, J.; Ebinger, C. J.

    2013-12-01

    The East African rift system in Ethiopia formed in the Earth's youngest flood basalt province, and provides a natural laboratory to study the geochemistry of bimodal volcanism and its implications for plume-derived magmatism, mantle-lithosphere interactions and evolution of continental rifts from plate extension to rupture. Our geochemical studies of the ~6 Ma to recent eruptive products from Gona within the Afar Rift Zone are understood in context of crustal and upper mantle seismic imaging studies that provide constraints on spatial variations. Geochemical (major element, trace element and isotope) analyses of basalts and rhyolitic tuff from Gona indicate a common magma source for these bimodal volcanics. Light rare earth elements (LREEs) are enriched with a strong negative Eu anomaly and a positive Ce anomaly in some of the silicic volcanic rocks. We observe strong depletions in Sr and higher concentrations of Zr, Hf, Th, Nb and Ta. We hypothesize that the silicic rocks may be residues from a plume-derived enriched magma source, following partial melting with fractional crystallization of plagioclase at shallow magma chambers. The absence of Nb-Ta anomaly shows no crustal assimilation by magmas. Sr isotopes, in conjunction with Nd and Pb isotopes and a strong Ce anomaly could reflect interaction of the parent magma with a deep saline aquifer or brine. Nd isotopic ratios (ɛNd = 1.9 to 4.6) show similarity of the silicic tuffs and basalts in their isotopic compositions except for some ~6 Ma lavas showing MORB-like values (ɛNd = 5 to 8.7) that suggest involvement of the asthenosphere with the plume source. Except for one basaltic tuff, the whole rock oxygen isotopic ratios of the Gona basalts range from +5.8‰ to +7.9‰, higher than the δ values for typical MORB, +5.7. The oxygen isotopes in whole rocks from the rhyolite tuffs vary from 14.6‰ to 20.9‰ while their Sr isotope ratios <0.706, indicative of post-depositional low T alteration of these silicic

  11. On the analysis of genome-wide association studies in family-based designs: a universal, robust analysis approach and an application to four genome-wide association studies.

    Directory of Open Access Journals (Sweden)

    Sungho Won

    2009-11-01

    Full Text Available For genome-wide association studies in family-based designs, we propose a new, universally applicable approach. The new test statistic exploits all available information about the association, while, by virtue of its design, it maintains the same robustness against population admixture as traditional family-based approaches that are based exclusively on the within-family information. The approach is suitable for the analysis of almost any trait type, e.g. binary, continuous, time-to-onset, multivariate, etc., and combinations of those. We use simulation studies to verify all theoretically derived properties of the approach, estimate its power, and compare it with other standard approaches. We illustrate the practical implications of the new analysis method by an application to a lung-function phenotype, forced expiratory volume in one second (FEV1 in 4 genome-wide association studies.

  12. Logistic regression protects against population structure in genetic association studies

    OpenAIRE

    Setakis, Efrosini; Stirnadel, Heide; Balding, David J.

    2006-01-01

    We conduct an extensive simulation study to compare the merits of several methods for using null (unlinked) markers to protect against false positives due to cryptic substructure in population-based genetic association studies. The more sophisticated “structured association” methods perform well but are computationally demanding and rely on estimating the correct number of subpopulations. The simple and fast “genomic control” approach can lose power in certain scenarios. We find that procedur...

  13. Population Structure and Cryptic Relatedness in Genetic Association Studies

    OpenAIRE

    Astle, William; Balding, David J.

    2010-01-01

    We review the problem of confounding in genetic association studies, which arises principally because of population structure and cryptic relatedness. Many treatments of the problem consider only a simple ``island'' model of population structure. We take a broader approach, which views population structure and cryptic relatedness as different aspects of a single confounder: the unobserved pedigree defining the (often distant) relationships among the study subjects. Kinship is therefore a cent...

  14. A Retrospective Study of Congenital Cardiac Abnormality Associated with Scoliosis

    OpenAIRE

    Bozcali, Evin; Ucpunar, Hanifi; Sevencan, Ahmet; Balioglu, Mehmet Bulent; Albayrak, Akif; Polat, Veli

    2016-01-01

    Study Design Retrospective study. Purpose To identify the incidence of congenital cardiac abnormalities in patients who had scoliosis and underwent surgical treatment for scoliosis. Overview of Literature Congenital and idiopathic scoliosis (IS) are associated with cardiac abnormalities. We sought to establish and compare the incidence of congenital cardiac abnormalities in patients with idiopathic and congenital scoliosis (CS) who underwent surgical treatment for scoliosis. Methods Ninety co...

  15. Cardiovascular outcomes associated with use of clarithromycin: population based study

    OpenAIRE

    Wong, AY; Root, A.; Douglas, IJ; Chui, CS; Chan, EW; Ghebremichael-Weldeselassie, Y.; Siu, CW; Smeeth, L; Wong, IC

    2016-01-01

    STUDY QUESTION:  What is the association between clarithromycin use and cardiovascular outcomes? METHODS:  In this population based study the authors compared cardiovascular outcomes in adults aged 18 or more receiving oral clarithromycin or amoxicillin during 2005-09 in Hong Kong. Based on age within five years, sex, and calendar year at use, each clarithromycin user was matched to one or two amoxicillin users. The cohort analysis included patients who received clarithromycin (n=108 988) or ...

  16. A STUDY ON CO MORBIDITIES ASSOCIATED WITH PSORIASIS

    OpenAIRE

    Remya Reghu; Roshni PR; Meenu Vijayan; Emmanuel James

    2013-01-01

    Psoriasis is a chronic, disfiguring inflammatory and proliferative condition of the skin. The present study focused on the comorbidities associated with psoriasis patients and also the medications used for the treatment of the same. It was a Non experimental (Observational) prospective and cross sectional study and done in the department of dermatology, Amrita Institute of Medical Sciences, (a tertiary care referral and teaching hospital, in Kochi). A total of 100 cases of psoriasis were iden...

  17. Genome-wide association study of circulating retinol levels

    OpenAIRE

    Mondul, Alison M.; Yu, Kai; Wheeler, William; Zhang, Hong; Weinstein, Stephanie J.; Major, Jacqueline M.; Cornelis, Marilyn C; Männistö, Satu; Hazra, Aditi; Hsing, Ann W.; Jacobs, Kevin B.; Eliassen, Heather; Tanaka, Toshiko; Reding, Douglas J.; Hendrickson, Sara

    2011-01-01

    Retinol is one of the most biologically active forms of vitamin A and is hypothesized to influence a wide range of human diseases including asthma, cardiovascular disease, infectious diseases and cancer. We conducted a genome-wide association study of 5006 Caucasian individuals drawn from two cohorts of men: the Alpha-Tocopherol, Beta-Carotene Cancer Prevention (ATBC) Study and the Prostate, Lung, Colorectal, and Ovarian (PLCO) Cancer Screening Trial. We identified two independent single-nucl...

  18. Automated quality control for genome wide association studies

    Science.gov (United States)

    Ellingson, Sally R.; Fardo, David W.

    2016-01-01

    This paper provides details on the necessary steps to assess and control data in genome wide association studies (GWAS) using genotype information on a large number of genetic markers for large number of individuals. Due to varied study designs and genotyping platforms between multiple sites/projects as well as potential genotyping errors, it is important to ensure high quality data. Scripts and directions are provided to facilitate others in this process.

  19. Heterogeneity of environments associated with transmission of visceral leishmaniasis in South-Eastern France and implication for control strategies.

    Directory of Open Access Journals (Sweden)

    Benoit Faucher

    Full Text Available BACKGROUND: Visceral leishmaniasis due to Leishmania infantum is currently spreading into new foci across Europe. Leishmania infantum transmission in the Old World was reported to be strongly associated with a few specific environments. Environmental changes due to global warming or human activity were therefore incriminated in the spread of the disease. However, comprehensive studies were lacking to reliably identify all the environments at risk and thereby optimize monitoring and control strategy. METHODOLOGY/FINDINGS: We exhaustively collected 328 cases of autochthonous visceral leishmaniasis from 1993 to 2009 in South-Eastern France. Leishmaniasis incidence decreased from 31 yearly cases between 1993 and 1997 to 12 yearly cases between 2005 and 2009 mostly because Leishmania/HIV coinfection were less frequent. No spread of human visceral leishmaniasis was observed in the studied region. Two major foci were identified, associated with opposite environments: whereas one involved semi-rural hillside environments partly made of mixed forests, the other involved urban and peri-urban areas in and around the region main town, Marseille. The two neighboring foci were related to differing environments despite similar vectors (P. perniciosus, canine reservoir, parasite (L. infantum zymodeme MON-1, and human host. CONCLUSIONS/SIGNIFICANCE: This unprecedented collection of cases highlighted the occurrence of protracted urban transmission of L. infantum in France, a worrisome finding as the disease is currently spreading in other areas around the Mediterranean. These results complete previous studies about more widespread canine leishmaniasis or human asymptomatic carriage. This first application of systematic geostatistical methods to European human visceral leishmaniasis demonstrated an unsuspected heterogeneity of environments associated with the transmission of the disease. These findings modify the current view of leishmaniasis epidemiology. They

  20. Amylase activity is associated with AMY2B copy numbers in dog: implications for dog domestication, diet and diabetes.

    Science.gov (United States)

    Arendt, Maja; Fall, Tove; Lindblad-Toh, Kerstin; Axelsson, Erik

    2014-10-01

    High amylase activity in dogs is associated with a drastic increase in copy numbers of the gene coding for pancreatic amylase, AMY2B, that likely allowed dogs to thrive on a relatively starch-rich diet during early dog domestication. Although most dogs thus probably digest starch more efficiently than do wolves, AMY2B copy numbers vary widely within the dog population, and it is not clear how this variation affects the individual ability to handle starch nor how it affects dog health. In humans, copy numbers of the gene coding for salivary amylase, AMY1, correlate with both salivary amylase levels and enzyme activity, and high amylase activity is related to improved glycemic homeostasis and lower frequencies of metabolic syndrome. Here, we investigate the relationship between AMY2B copy numbers and serum amylase activity in dogs and show that amylase activity correlates with AMY2B copy numbers. We then describe how AMY2B copy numbers vary in individuals from 20 dog breeds and find strong breed-dependent patterns, indicating that the ability to digest starch varies both at the breed and individual level. Finally, to test whether AMY2B copy number is strongly associated with the risk of developing diabetes mellitus, we compare copy numbers in cases and controls as well as in breeds with varying diabetes susceptibility. Although we see no such association here, future studies using larger cohorts are needed before excluding a possible link between AMY2B and diabetes mellitus. PMID:24975239

  1. Ulcerated yellow spot syndrome: implications of aquaculture-related pathogens associated with soft coral Sarcophyton ehrenbergi tissue lesions.

    Science.gov (United States)

    Cervino, James M; Hauff, Briana; Haslun, Joshua A; Winiarski-Cervino, Kathryn; Cavazos, Michael; Lawther, Pamela; Wier, Andrew M; Hughen, Konrad; Strychar, Kevin B

    2012-12-27

    We introduce a new marine syndrome called ulcerated yellow spot, affecting the soft coral Sarcophyton ehrenbergi. To identify bacteria associated with tissue lesions, tissue and mucus samples were taken during a 2009 Indo-Pacific research expedition near the Wakatobi Island chain, Indonesia. Polymerase chain reaction targeting the 16S rDNA gene indicated associations with the known fish-disease-causing bacterium Photobacterium damselae, as well as multiple Vibrio species. Results indicate a shift toward decreasing diversity of bacteria in lesioned samples. Photobacterium damselae ssp. piscicida, formerly known as Pasteurella piscicida, is known as the causative agent of fish pasteurellosis and in this study, was isolated solely in lesioned tissues. Globally, fish pasteurellosis is one of the most damaging fish diseases in marine aquaculture. Vibrio alginolyticus, a putative pathogen associated with yellow band disease in scleractinian coral, was also isolated from lesioned tissues. Lesions appear to be inflicting damage on symbiotic zooxanthellae (Symbiodinium sp.), measurable by decreases in mitotic index, cell density and photosynthetic efficiency. Mitotic index of zooxanthellae within infected tissue samples was decreased by ~80%, while zooxanthellae densities were decreased by ~40% in lesioned tissue samples compared with healthy coral. These results provide evidence for the presence of known aquaculture pathogens in lesioned soft coral and may be a concern with respect to cross-species epizootics in the tropics. PMID:23269388

  2. Reduced E-cadherin expression is associated with abdominal pain and symptom duration in a study of alternating and diarrhea predominant IBS.

    LENUS (Irish Health Repository)

    Wilcz-Villega, E

    2013-11-29

    Increased intestinal permeability and altered expression of tight junction (TJ) proteins may be implicated in the pathogenesis of irritable bowel syndrome (IBS). This study aimed to investigate the expression of adherens junction (AJ) protein E-cadherin and TJ proteins zonula occludens (ZO)-1 and claudin (CLD)-1 and associations with IBS symptoms.

  3. Genome-Wide Association Study Reveals Multiple Loci Associated with Primary Tooth Development during Infancy

    OpenAIRE

    Pillas, D.; Hoggart, C. J.; Evans, D. M.; O'Reilly, P. F.; Sipila, K.; Lahdesmaki, R.; Millwood, I. Y.; Kaakinen, M; Netuveli, G.; Blane, D; Charoen, P.; Sovio, U; Pouta, A.; Freimer, N; Hartikainen, A. L.

    2010-01-01

    Tooth development is a highly heritable process which relates to other growth and developmental processes, and which interacts with the development of the entire craniofacial complex. Abnormalities of tooth development are common, with tooth agenesis being the most common developmental anomaly in humans. We performed a genome-wide association study of time to first tooth eruption and number of teeth at one year in 4,564 individuals from the 1966 Northern Finland Birth Cohort (NFBC1966) and 1,...

  4. Genetic Variants Associated with Increased Risk of Malignant Pleural Mesothelioma: A Genome-Wide Association Study

    OpenAIRE

    Matullo, Giuseppe; Guarrera, Simonetta; Betti, Marta; Fiorito, Giovanni; Ferrante, Daniela; Voglino, Floriana; Cadby, Gemma; Di Gaetano, Cornelia; De Rosa, Fabio; Russo, Alessia; Hirvonen, Ari; Casalone, Elisabetta; Tunesi, Sara; Padoan, Marina; Giordano, Mara

    2013-01-01

    Asbestos exposure is the main risk factor for malignant pleural mesothelioma (MPM), a rare aggressive tumor. Nevertheless, only 5–17% of those exposed to asbestos develop MPM, suggesting the involvement of other environmental and genetic risk factors. To identify the genetic risk factors that may contribute to the development of MPM, we conducted a genome-wide association study (GWAS; 370,000 genotyped SNPs, 5 million imputed SNPs) in Italy, among 407 MPM cases and 389 controls with a complet...

  5. Risk Management and Insurance Implications Associated with the Americans with Disabilities Act: Accessibility to Places of Public Accommodation

    OpenAIRE

    Robert J. Aalberts; Donald W. Hardigree

    1992-01-01

    The authors provided an analysis of Title Ill of the Americans with Disabilities Act and its impact on risk managers. They explained the issue of accessibility to public accommodations, along with the requirements for conforming with the Title III requirements of the Act. Potential insurance and risk management implications are addressed, with an analysis of possible loss control actions or remedies and insurance coverages.

  6. Genotypic and phenotypic properties of cattle-associated Campylobacter and their implications to public health in the USA.

    Directory of Open Access Journals (Sweden)

    Yasser M Sanad

    Full Text Available Since cattle are a major source of food and the cattle industry engages people from farms to processing plants and meat markets, it is conceivable that beef-products contaminated with Campylobacter spp. would pose a significant public health concern. To better understand the epidemiology of cattle-associated Campylobacter spp. in the USA, we characterized the prevalence, genotypic and phenotypic properties of these pathogens. Campylobacter were detected in 181 (19.2% out of 944 fecal samples. Specifically, 71 C. jejuni, 132 C. coli, and 10 other Campylobacter spp. were identified. The prevalence of Campylobacter varied regionally and was significantly (P<0.05 higher in fecal samples collected from the South (32.8% as compared to those from the North (14.8%, Midwest (15.83%, and East (12%. Pulsed Field Gel Electrophoresis (PFGE analysis showed that C. jejuni and C. coli isolates were genotypically diverse and certain genotypes were shared across two or more of the geographic locations. In addition, 13 new C. jejuni and two C. coli sequence types (STs were detected by Multi Locus Sequence Typing (MLST. C. jejuni associated with clinically human health important sequence type, ST-61 which was not previously reported in the USA, was identified in the present study. Most frequently observed clonal complexes (CC were CC ST-21, CC ST-42, and CC ST-61, which are also common in humans. Further, the cattle associated C. jejuni strains showed varying invasion and intracellular survival capacity; however, C. coli strains showed a lower invasion and intracellular survival potential compared to C. jejuni strains. Furthermore, many cattle associated Campylobacter isolates showed resistance to several antimicrobials including ciprofloxacin, erythromycin, and gentamicin. Taken together, our results highlight the importance of cattle as a potential reservoir for clinically important Campylobacter.

  7. SNPs in genes implicated in radiation response are associated with radiotoxicity and evoke roles as predictive and prognostic biomarkers

    International Nuclear Information System (INIS)

    Biomarkers are needed to individualize cancer radiation treatment. Therefore, we have investigated the association between various risk factors, including single nucleotide polymorphisms (SNPs) in candidate genes and late complications to radiotherapy in our nasopharyngeal cancer patients. A cohort of 155 patients was included. Normal tissue fibrosis was scored using RTOG/EORTC grading system. A total of 45 SNPs in 11 candidate genes (ATM, XRCC1, XRCC3, XRCC4, XRCC5, PRKDC, LIG4, TP53, HDM2, CDKN1A, TGFB1) were genotyped by direct genomic DNA sequencing. Patients with severe fibrosis (cases, G3-4, n = 48) were compared to controls (G0-2, n = 107). Univariate analysis showed significant association (P < 0.05) with radiation complications for 6 SNPs (ATM G/A rs1801516, HDM2 promoter T/G rs2279744 and T/A rs1196333, XRCC1 G/A rs25487, XRCC5 T/C rs1051677 and TGFB1 C/T rs1800469). In addition, Kaplan-Meier analyses have also highlighted significant association between genotypes and length of patients’ follow-up after radiotherapy. Multivariate logistic regression has further sustained these results suggesting predictive and prognostic roles of SNPs. Univariate and multivariate analysis suggest that radiation toxicity in radiotherapy patients are associated with certain SNPs, in genes including HDM2 promoter studied for the 1st time. These results support the use of SNPs as genetic predictive markers for clinical radiosensitivity and evoke a prognostic role for length of patients’ follow-up after radiotherapy

  8. Study on multimers and their structures in molecular association mixture

    Institute of Scientific and Technical Information of China (English)

    YAMAGUCHI; Yoshinori; OZAKI; Yukihiro

    2007-01-01

    Self-association system of(R)-1,3-butanediol in dilute carbon tetrachloride(CCl4)solution is studied as a model of molecular association mixture.Analysis methods including FSMWEFA(fixed-size moving window evolving factor analysis)combined with PCA(principal component analysis),SIMPLISMA (simple-to-use interactive self-modeling mixture analysis),and ITTFA(iterative target transformation factor analysis)are adopted to resolve infrared spectra of(R)-1,3-butanediol solution.Association number and equilibrium constant are computed.(R)-1,3-butanediol in dilute inert solution is determined as a monomer-trimer equilibrium system.Theoretical investigation of trimer structures is carried out with DFT(density functional theory),and structural factors are analyzed.

  9. Methods for Analyzing Multivariate Phenotypes in Genetic Association Studies

    Directory of Open Access Journals (Sweden)

    Qiong Yang

    2012-01-01

    Full Text Available Multivariate phenotypes are frequently encountered in genetic association studies. The purpose of analyzing multivariate phenotypes usually includes discovery of novel genetic variants of pleiotropy effects, that is, affecting multiple phenotypes, and the ultimate goal of uncovering the underlying genetic mechanism. In recent years, there have been new method development and application of existing statistical methods to such phenotypes. In this paper, we provide a review of the available methods for analyzing association between a single marker and a multivariate phenotype consisting of the same type of components (e.g., all continuous or all categorical or different types of components (e.g., some are continuous and others are categorical. We also reviewed causal inference methods designed to test whether the detected association with the multivariate phenotype is truly pleiotropy or the genetic marker exerts its effects on some phenotypes through affecting the others.

  10. Genome-wide association studies in pharmacogenetics research debate

    Science.gov (United States)

    Bailey, Kent R; Cheng, Cheng

    2016-01-01

    Will genome-wide association studies (GWAS) ‘work’ for pharmacogenetics research? This question was the topic of a staged debate, with pro and con sides, aimed to bring out the strengths and weaknesses of GWAS for pharmacogenetics studies. After a full day of seminars at the Fifth Statistical Analysis Workshop of the Pharmacogenetics Research Network, the lively debate was held – appropriately – at Goonies Comedy Club in Rochester (MN, USA). The pro side emphasized that the many GWAS successes for identifying genetic variants associated with disease risk show that it works; that the current genotyping platforms are efficient, with good imputation methods to fill in missing data; that its global assessment is always a success even if no significant associations are detected; and that genetic effects are likely to be large because humans have not evolved in a drug-therapy environment. By contrast, the con side emphasized that we have limited knowledge of the complexity of the genome; limited clinical phenotypes compromise studies; the likely multifactorial nature of drug response clouding the small genetic effects; and limitations of sample size and replication studies in pharmacogenetic studies. Lively and insightful discussions emphasized further research efforts that might benefit GWAS in pharmacogenetics. PMID:20235786

  11. CYP450 genotype and pharmacogenetic association studies: a critical appraisal.

    Science.gov (United States)

    Shah, Rashmi R; Gaedigk, Andrea; LLerena, Adrián; Eichelbaum, Michel; Stingl, Julia; Smith, Robert L

    2016-02-01

    Despite strong pharmacological support, association studies using genotype-predicted phenotype as a variable have yielded conflicting or inconclusive evidence to promote personalized pharmacotherapy. Unless the patient is a genotypic poor metabolizer, imputation of patient's metabolic capacity (or metabolic phenotype), a major factor in drug exposure-related clinical response, is a complex and highly challenging task because of limited number of alleles interrogated, population-specific differences in allele frequencies, allele-specific substrate-selectivity and importantly, phenoconversion mediated by co-medications and inflammatory co-morbidities that modulate the functional activity of drug metabolizing enzymes. Furthermore, metabolic phenotype and clinical outcomes are not binary functions; there is large intragenotypic and intraindividual variability. Therefore, the ability of association studies to identify relationships between genotype and clinical outcomes can be greatly enhanced by determining phenotype measures of study participants and/or by therapeutic drug monitoring to correlate drug concentrations with genotype and actual metabolic phenotype. To facilitate improved analysis and reporting of association studies, we propose acronyms with the prefixes 'g' (genotype-predicted phenotype) and 'm' (measured metabolic phenotype) to better describe this important variable of the study subjects. Inclusion of actually measured metabolic phenotype, and when appropriate therapeutic drug monitoring, promises to reveal relationships that may not be detected by using genotype alone as the variable. PMID:26780308

  12. Genome-wide Association Study of Platelet Count Identifies Ancestry-Specific Loci in Hispanic/Latino Americans.

    Science.gov (United States)

    Schick, Ursula M; Jain, Deepti; Hodonsky, Chani J; Morrison, Jean V; Davis, James P; Brown, Lisa; Sofer, Tamar; Conomos, Matthew P; Schurmann, Claudia; McHugh, Caitlin P; Nelson, Sarah C; Vadlamudi, Swarooparani; Stilp, Adrienne; Plantinga, Anna; Baier, Leslie; Bien, Stephanie A; Gogarten, Stephanie M; Laurie, Cecelia A; Taylor, Kent D; Liu, Yongmei; Auer, Paul L; Franceschini, Nora; Szpiro, Adam; Rice, Ken; Kerr, Kathleen F; Rotter, Jerome I; Hanson, Robert L; Papanicolaou, George; Rich, Stephen S; Loos, Ruth J F; Browning, Brian L; Browning, Sharon R; Weir, Bruce S; Laurie, Cathy C; Mohlke, Karen L; North, Kari E; Thornton, Timothy A; Reiner, Alex P

    2016-02-01

    Platelets play an essential role in hemostasis and thrombosis. We performed a genome-wide association study of platelet count in 12,491 participants of the Hispanic Community Health Study/Study of Latinos by using a mixed-model method that accounts for admixture and family relationships. We discovered and replicated associations with five genes (ACTN1, ETV7, GABBR1-MOG, MEF2C, and ZBTB9-BAK1). Our strongest association was with Amerindian-specific variant rs117672662 (p value = 1.16 × 10(-28)) in ACTN1, a gene implicated in congenital macrothrombocytopenia. rs117672662 exhibited allelic differences in transcriptional activity and protein binding in hematopoietic cells. Our results underscore the value of diverse populations to extend insights into the allelic architecture of complex traits. PMID:26805783

  13. Genome-wide association studies suggest sex-specific loci associated with abdominal and visceral fat

    Science.gov (United States)

    Sung, Yun Ju; Pérusse, Louis; Sarzynski, Mark A.; Fornage, Myriam; Sidney, Steve; Sternfeld, Barbara; Rice, Treva; Terry, Gregg; Jacobs, David R.; Katzmarzyk, Peter; Curran, Joanne E; Carr, John Jeffrey; Blangero, John; Ghosh, Sujoy; Després, Jean-Pierre; Rankinen, Tuomo; Rao, D.C.; Bouchard, Claude

    2015-01-01

    Background To identify loci associated with abdominal fat and replicate prior findings, we performed genome-wide association (GWA) studies of abdominal fat traits: subcutaneous adipose tissue (SAT), visceral adipose tissue (VAT), total adipose tissue (TAT) and visceral to subcutaneous adipose tissue ratio (VSR). Subjects and Methods Sex-combined and sex-stratified analyses were performed on each trait with (TRAIT-BMI) or without (TRAIT) adjustment for BMI, and cohort-specific results were combined via a fixed effects meta-analysis. A total of 2,513 subjects of European descent were available for the discovery phase. For replication, 2,171 European Americans and 772 African Americans were available. Results A total of 52 SNPs encompassing 7 loci showed suggestive evidence of association (p < 1.0 × 10−6) with abdominal fat in the sex-combined analyses. The strongest evidence was found on chromosome 7p14.3 between a SNP near BBS9 gene and VAT (rs12374818; p= 1.10 × 10−7), an association that was replicated (p = 0.02). For the BMI-adjusted trait, the strongest evidence of association was found between a SNP near CYCSP30 and VAT-BMI (rs10506943; p= 2.42 × 10−7). Our sex-specific analyses identified one genome-wide significant (p < 5.0 × 10−8) locus for SAT in women with 11 SNPs encompassing the MLLT10, DNAJC1 and EBLN1 genes on chromosome 10p12.31 (p = 3.97 × 10−8 to 1.13 × 10−8). The THNSL2 gene previously associated with VAT in women was also replicated (p= 0.006). The six gene/loci showing the strongest evidence of association with VAT or VAT-BMI were interrogated for their functional links with obesity and inflammation using the Biograph knowledge-mining software. Genes showing the closest functional links with obesity and inflammation were ADCY8 and KCNK9, respectively. Conclusions Our results provide evidence for new loci influencing abdominal visceral (BBS9, ADCY8, KCNK9) and subcutaneous (MLLT10/DNAJC1/EBLN1) fat, and confirmed a locus (THNSL2

  14. Genome-Wide Association Study Identifies Candidate Loci Associated with Platelet Count in Koreans

    Science.gov (United States)

    Oh, Ji Hee; Kim, Yun Kyoung; Moon, Sanghoon; Kim, Young Jin

    2014-01-01

    Platelets are derived from the fragments that are formed from the cytoplasm of bone marrow megakaryocytes-small irregularly shaped anuclear cells. Platelets respond to vascular damage, contracts blood vessels, and attaches to the damaged region, thereby stopping bleeding, together with the action of blood coagulation factors. Platelet activation is known to affect genes associated with vascular risk factors, as well as with arteriosclerosis and myocardial infarction. Here, we performed a genome-wide association study with 352,228 single-nucleotide polymorphisms typed in 8,842 subjects of the Korea Association Resource (KARE) project and replicated the results in 7,861 subjects from an independent population. We identified genetic associations between platelet count and common variants nearby chromosome 4p16.1 (p = 1.46 × 10-10, in the KIAA0232 gene), 6p21 (p = 1.36 × 10-7, in the BAK1 gene), and 12q24.12 (p = 1.11 × 10-15, in the SH2B3 gene). Our results illustrate the value of large-scale discovery and a focus for several novel research avenues. PMID:25705162

  15. Kamin blocking is associated with reduced medial-frontal gyrus activation: implications for prediction error abnormality in schizophrenia.

    Directory of Open Access Journals (Sweden)

    Paula M Moran

    Full Text Available The following study used 3-T functional magnetic resonance imaging (fMRI to investigate the neural signature of Kamin blocking. Kamin blocking is an associative learning phenomenon seen where prior association of a stimulus (A with an outcome blocks subsequent learning to an added stimulus (B when both stimuli are later presented together (AB with the same outcome. While there are a number of theoretical explanations of Kamin blocking, it is widely considered to exemplify the use of prediction error in learning, where learning occurs in proportion to the difference between expectation and outcome. In Kamin blocking as stimulus A fully predicts the outcome no prediction error is generated by the addition of stimulus B to form the compound stimulus AB, hence learning about it is "blocked". Kamin blocking is disrupted in people with schizophrenia, their relatives and healthy individuals with high psychometrically-defined schizotypy. This disruption supports suggestions that abnormal prediction error is a core deficit that can help to explain the symptoms of schizophrenia. The present study tested 9 healthy volunteers on an f-MRI adaptation of Oades' "mouse in the house task", the only task measuring Kamin blocking that shows disruption in schizophrenia patients that has been independently replicated. Participant's Kamin blocking scores were found to inversely correlate with Kamin-blocking-related activation within the prefrontal cortex, specifically the medial frontal gyrus. The medial frontal gyrus has been associated with the psychological construct of uncertainty, which we suggest is consistent with disrupted Kamin blocking and demonstrated in people with schizophrenia. These data suggest that the medial frontal gyrus merits further investigation as a potential locus of reduced Kamin blocking and abnormal prediction error in schizophrenia.

  16. Multiple Sclerosis Associated Risk Factors: A Case-Control Study

    OpenAIRE

    POOROLAJAL, Jalal; Mazdeh, Mehrdokht; Saatchi, Mohammad; TALEBI GHANE, Elaheh; BIDERAFSH, Azam; LOTFI, Bahar; Mohammad FERYADRES; PAJOHI, Khabat

    2015-01-01

    Background: Hamadan Province is one of the high-risk regions in Iran for Multiple sclerosis (MS). A majority of the epidemiological studies conducted in Iran addressing MS are descriptive. This study was conducted to assess MS and its associated risk factors in Hamadan Province, the west of Iran.Methods: This case-control study compared 100 patients with MS (case group) and 100 patients with acute infectious diseases (control group) from September 2013 to March 2014. A checklist was used to a...

  17. A genome wide association study of Plasmodium falciparum susceptibility to 22 antimalarial drugs in Kenya.

    Directory of Open Access Journals (Sweden)

    Jason P Wendler

    Full Text Available BACKGROUND: Drug resistance remains a chief concern for malaria control. In order to determine the genetic markers of drug resistant parasites, we tested the genome-wide associations (GWA of sequence-based genotypes from 35 Kenyan P. falciparum parasites with the activities of 22 antimalarial drugs. METHODS AND PRINCIPAL FINDINGS: Parasites isolated from children with acute febrile malaria were adapted to culture, and sensitivity was determined by in vitro growth in the presence of anti-malarial drugs. Parasites were genotyped using whole genome sequencing techniques. Associations between 6250 single nucleotide polymorphisms (SNPs and resistance to individual anti-malarial agents were determined, with false discovery rate adjustment for multiple hypothesis testing. We identified expected associations in the pfcrt region with chloroquine (CQ activity, and other novel loci associated with amodiaquine, quinazoline, and quinine activities. Signals for CQ and primaquine (PQ overlap in and around pfcrt, and interestingly the phenotypes are inversely related for these two drugs. We catalog the variation in dhfr, dhps, mdr1, nhe, and crt, including novel SNPs, and confirm the presence of a dhfr-164L quadruple mutant in coastal Kenya. Mutations implicated in sulfadoxine-pyrimethamine resistance are at or near fixation in this sample set. CONCLUSIONS/SIGNIFICANCE: Sequence-based GWA studies are powerful tools for phenotypic association tests. Using this approach on falciparum parasites from coastal Kenya we identified known and previously unreported genes associated with phenotypic resistance to anti-malarial drugs, and observe in high-resolution haplotype visualizations a possible signature of an inverse selective relationship between CQ and PQ.

  18. Multiple Comparisons in Genetic Association Studies: A Hierarchical Modeling Approach

    Science.gov (United States)

    Yi, Nengjun; Xu, Shizhong; Lou, Xiang-Yang; Mallick, Himel

    2016-01-01

    Multiple comparisons or multiple testing has been viewed as a thorny issue in genetic association studies aiming to detect disease-associated genetic variants from a large number of genotyped variants. We alleviate the problem of multiple comparisons by proposing a hierarchical modeling approach that is fundamentally different from the existing methods. The proposed hierarchical models simultaneously fit as many variables as possible and shrink unimportant effects towards zero. Thus, the hierarchical models yield more efficient estimates of parameters than the traditional methods that analyze genetic variants separately, and also coherently address the multiple comparisons problem due to largely reducing the effective number of genetic effects and the number of statistically ‘significant’ effects. We develop a method for computing the effective number of genetic effects in hierarchical generalized linear models, and propose a new adjustment for multiple comparisons, the hierarchical Bonferroni correction, based on the effective number of genetic effects. Our approach not only increases the power to detect disease-associated variants but also controls the Type I error. We illustrate and evaluate our method with real and simulated data sets from genetic association studies. The method has been implemented in our freely available R package BhGLM (http://www.ssg.uab.edu/bhglm/). PMID:24259248

  19. Whole-genome association study of fatty acid composition in a diverse range of beef cattle breeds.

    Science.gov (United States)

    Kelly, M J; Tume, R K; Fortes, M; Thompson, J M

    2014-05-01

    Fatty acid composition of adipose tissue associated with meat is an important factor for the beef industry because of its implications for human health, processing, meat quality, and palatability. Individual fatty acid composition is a trait under genetic control, so improvement via selective breeding of cattle is possible. The objective of this study was to investigate the genetic architecture of fatty acid composition and identify genes associated with this trait in 3 breed types: Bos indicus (Brahman), Bos taurus (4 breeds), and tropically adapted composites (2 breeds). Using high-density data, regions on chromosomes 1, 9, 14, 16, 19, 23, 26, 29, and X were associated with fat composition and quantity traits. Known candidate genes, such as fatty acid synthase (FASN; chromosome 19) and stearoyl-CoA desaturase (SCD; chromosome 26), were confirmed in our results. Other candidate genes and regions represent novel association results, requiring further validation. PMID:24782392

  20. Association studies in common endocrine diseases (review article

    Directory of Open Access Journals (Sweden)

    Akrami SM

    2007-05-01

    Full Text Available Our understanding of the pathogenesis of endocrine disorders increase rapidly by genetic studies at the molecular level. Common endocrine disorders such as diabetes mellitus, obesity, osteoporosis, dyslipidemia and cancer follow the multifactorial model in the genetic aspect. This review tries to clarify the approach in molecular studies of such diseases for clinicians in different specialties. How to evaluate a possible association between a single nucleotide polymorphism and an endocrinopathy or its complication is the main concern of this review. Two approaches for gene mapping will be discussed as well as main challenges regarding each approach. All such genetic studies ideally include some test of the association between genome sequence variation and the phenotype of interest such as the trait itself, the presence of a given complication, or measures of some endocrinopathy-related intermediate trait. Despite different advances in this analysis, there are major concerns regarding the overall performance and robustness of genetic association studies. By using powerful new high-throughput methods, further insights to molecular basis of such endocrine disorders can be expected. Close correlation between geneticists and clinicians can effectively bridge between basic sciences and clinical investigations.

  1. Genome-wide association study of parity in Bangladeshi women.

    Science.gov (United States)

    Aschebrook-Kilfoy, Briseis; Argos, Maria; Pierce, Brandon L; Tong, Lin; Jasmine, Farzana; Roy, Shantanu; Parvez, Faruque; Ahmed, Alauddin; Islam, Tariqul; Kibriya, Muhammad G; Ahsan, Habibul

    2015-01-01

    Human fertility is a complex trait determined by gene-environment interactions in which genetic factors represent a significant component. To better understand inter-individual variability in fertility, we performed one of the first genome-wide association studies (GWAS) of common fertility phenotypes, lifetime number of pregnancies and number of children in a developing country population. The fertility phenotype data and DNA samples were obtained at baseline recruitment from individuals participating in a large prospective cohort study in Bangladesh. GWAS analyses of fertility phenotypes were conducted among 1,686 married women. One SNP on chromosome 4 was non-significantly associated with number of children at P pregnancies at P pregnancies. This SNP is located near C5orf64, an open reading frame, and ZSWIM6, a zinc ion binding gene. We also estimated the heritability of these phenotypes from our genotype data using GCTA (Genome-wide Complex Trait Analysis) for number of children (hg2 = 0.149, SE = 0.24, p-value = 0.265) and number of pregnancies (hg2 = 0.007, SE = 0.22, p-value = 0.487). Our genome-wide association study and heritability estimates of number of pregnancies and number of children in Bangladesh did not confer strong evidence of common variants for parity variation. However, our results suggest that future studies may want to consider the role of 3 notable SNPs in their analysis. PMID:25742292

  2. XWAS: A Software Toolset for Genetic Data Analysis and Association Studies of the X Chromosome.

    Science.gov (United States)

    Gao, Feng; Chang, Diana; Biddanda, Arjun; Ma, Li; Guo, Yingjie; Zhou, Zilu; Keinan, Alon

    2015-01-01

    XWAS is a new software suite for the analysis of the X chromosome in association studies and similar genetic studies. The X chromosome plays an important role in human disease and traits of many species, especially those with sexually dimorphic characteristics. Special attention needs to be given to its analysis due to the unique inheritance pattern, which leads to analytical complications that have resulted in the majority of genome-wide association studies (GWAS) either not considering X or mishandling it with toolsets that had been designed for non-sex chromosomes. We hence developed XWAS to fill the need for tools that are specially designed for analysis of X. Following extensive, stringent, and X-specific quality control, XWAS offers an array of statistical tests of association, including: 1) the standard test between a SNP (single nucleotide polymorphism) and disease risk, including after first stratifying individuals by sex, 2) a test for a differential effect of a SNP on disease between males and females, 3) motivated by X-inactivation, a test for higher variance of a trait in heterozygous females as compared with homozygous females, and 4) for all tests, a version that allows for combining evidence from all SNPs across a gene. We applied the toolset analysis pipeline to 16 GWAS datasets of immune-related disorders and 7 risk factors of coronary artery disease, and discovered several new X-linked genetic associations. XWAS will provide the tools and incentive for others to incorporate the X chromosome into GWAS and similar studies in any species with an XX/XY system, hence enabling discoveries of novel loci implicated in many diseases and in their sexual dimorphism. PMID:26268243

  3. Implications of social structure

    DEFF Research Database (Denmark)

    Brask, Josefine Bohr

    Social systems in nature are characterised by heterogeneous social structures. The pattern of social interactions or associations between individuals within populations (i.e. their social network) is typically non-random. Such structuring may have important implications for the expression and...... four separate studies. In the first study, we propose a simple framework that may be used as a base when studying the link between social structure and fitness. We furthermore review current evidence for fitness effects of social structure, and find good support for such effects. In the second study...... evolution of behaviour, and for individual fitness. In this thesis I investigated implications of social structure for fitness and behaviour, with focus on three main areas: social structure & fitness, social structure & communication, and social structure & cooperation. These areas were investigated in...

  4. The Tuskegee Syphilis Study, 1932 to 1972: Implications for HIV Education and AIDS Risk Education Programs in the Black Community.

    Science.gov (United States)

    Thomas, Stephen B.; Quinn, Sandra Crouse

    1991-01-01

    The Tuskegee study of untreated syphilis in black males caused distrust by blacks of the public health system that has implications for Acquired Immune Deficiency Syndrome (AIDS) and Human Immunodeficiency Virus (HIV) studies. AIDS prevention among blacks may require openness about the Tuskegee study to allay fears of repetition. (SLD)

  5. Facial dermatosis associated with Demodex: a case-control study*

    OpenAIRE

    Zhao, Ya-e; Peng, Yan; Wang, Xiang-lan; Wu, Li-ping; Wang, Mei; Yan, Hu-ling; XIAO, SHENG-XIANG

    2011-01-01

    Demodex has been considered to be related with multiple skin disorders, but controversy persists. In this case-control study, a survey was conducted with 860 dermatosis patients aged 12 to 84 years in Xi’an, China to identify the association between facial dermatosis and Demodex. Amongst the patients, 539 suffered from facial dermatosis and 321 suffered from non-facial dermatosis. Demodex mites were sampled and examined using the skin pressurization method. Multivariate regression analysis wa...

  6. Dental trauma in association with maxillofacial fractures: an epidemiological study

    OpenAIRE

    Ruslin, Muhammad

    2015-01-01

    The aim of this study was to retrospectively investigate the incidence and associated factors of dental trauma in patients with maxillofacial fractures at the VU Medical Center in Amsterdam. Material and methods: Data from 707 patients who were treated surgically for maxillofacial fractures were evaluated. The data were collected retrospectively from patient files and other available databases. The data collected included date of fracture, age, gender, type of fracture, and ...

  7. Associative learning on imbalanced environments: An empirical study

    OpenAIRE

    Cleofas Sánchez, Laura; Sánchez Garreta, José Salvador; García, V.; Valdovinos, R.M.

    2015-01-01

    Associative memories have emerged as a powerful computational neural network model for several pattern classification problems. Like most traditional classifiers, these models assume that the classes share similar prior probabilities. However, in many real-life applications the ratios of prior probabilities between classes are extremely skewed. Although the literature has provided numerous studies that examine the performance degradation of renowned classifiers on different imbalanced scenari...

  8. Genome-Wide Association Study of Proneness to Anger

    OpenAIRE

    Mick, Eric; Mcgough, James,; Deutsch, Curtis K.; Jean A. Frazier; Kennedy, David; Goldberg, Robert J.

    2014-01-01

    Background Community samples suggest that approximately 1 in 20 children and adults exhibit clinically significant anger, hostility, and aggression. Individuals with dysregulated emotional control have a greater lifetime burden of psychiatric morbidity, severe impairment in role functioning, and premature mortality due to cardiovascular disease. Methods With publically available data secured from dbGaP, we conducted a genome-wide association study of proneness to anger using the Spielberger S...

  9. Genetic association- and linkage studies in colorectal cancer

    OpenAIRE

    Holst, Susanna von

    2014-01-01

    Colorectal cancer (CRC) is the third most common cancer type in the Western world. Over one million patients are diagnosed worldwide yearly. A family history of CRC is a major risk factor for CRC. The total genetic contribution to disease development is estimated to be 35%. High-risk syndromes caused by known genes such as familial adenomatous polyposis (FAP) and Lynch Syndrome (LS) explain less than 5% of that number. Recently, several genome-wide association studies (GWAS) ha...

  10. Impaired associative learning in schizophrenia: behavioral and computational studies

    OpenAIRE

    Diwadkar, Vaibhav A.; Flaugher, Brad; Jones, Trevor; Zalányi, László; Ujfalussy, Balázs; Keshavan, Matcheri S.; Érdi, Péter

    2008-01-01

    Associative learning is a central building block of human cognition and in large part depends on mechanisms of synaptic plasticity, memory capacity and fronto–hippocampal interactions. A disorder like schizophrenia is thought to be characterized by altered plasticity, and impaired frontal and hippocampal function. Understanding the expression of this dysfunction through appropriate experimental studies, and understanding the processes that may give rise to impaired behavior through biological...

  11. A Western dietary pattern is associated with overweight and obesity in a national sample of Lebanese adolescents (13–19 years): a cross-sectional study

    OpenAIRE

    Naja, Farah; Hwalla, Nahla; Itani, Leila; Karam, Sabine; Mehio Sibai, Abla; Nasreddine, Lara

    2015-01-01

    Adolescent obesity is associated with both immediate and longer-term health implications. This study aims to identify dietary patterns among a nationally representative sample of Lebanese adolescents aged between 13 and 19 years (n 446) and to assess the association of these patterns with overweight and obesity. Through face-to-face interviews, socio-demographic, lifestyle and anthropometric variables were collected. Dietary intake was assessed using a sixty-one-item FFQ. Dietary patterns wer...

  12. Genome-Wide Association Study of Antiphospholipid Antibodies

    Directory of Open Access Journals (Sweden)

    M. Ilyas Kamboh

    2013-01-01

    Full Text Available Background. The persistent presence of antiphospholipid antibodies (APA may lead to the development of primary or secondary antiphospholipid syndrome. Although the genetic basis of APA has been suggested, the identity of the underlying genes is largely unknown. In this study, we have performed a genome-wide association study (GWAS in an effort to identify susceptibility loci/genes for three main APA: anticardiolipin antibodies (ACL, lupus anticoagulant (LAC, and anti-β2 glycoprotein I antibodies (anti-β2GPI. Methods. DNA samples were genotyped using the Affymetrix 6.0 array containing 906,600 single-nucleotide polymorphisms (SNPs. Association of SNPs with the antibody status (positive/negative was tested using logistic regression under the additive model. Results. We have identified a number of suggestive novel loci with Passociations of HLA genes and APOH with APA but these were not the top loci. Conclusions. We have identified a number of suggestive novel loci for APA that will stimulate follow-up studies in independent and larger samples to replicate our findings.

  13. FOXP2 gene and language impairment in schizophrenia: association and epigenetic studies

    Directory of Open Access Journals (Sweden)

    Moltó María D

    2010-07-01

    Full Text Available Abstract Background Schizophrenia is considered a language related human specific disease. Previous studies have reported evidence of positive selection for schizophrenia-associated genes specific to the human lineage. FOXP2 shows two important features as a convincing candidate gene for schizophrenia vulnerability: FOXP2 is the first gene related to a language disorder, and it has been subject to positive selection in the human lineage. Methods Twenty-seven SNPs of FOXP2 were genotyped in a cohort of 293 patients with schizophrenia and 340 controls. We analyzed in particular the association with the poverty of speech and the intensity of auditory hallucinations. Potential expansion of three trinucleotide repeats of FOXP2 was also screened in a subsample. Methylation analysis of a CpG island, located in the first exon of the gene, was performed in post-mortem brain samples, as well as qRT-PCR analysis. Results A significant association was found between the SNP rs2253478 and the item Poverty of speech of the Manchester scale (p = 0.038 after Bonferroni correction. In patients, we detected higher degree of methylation in the left parahippocampus gyrus than in the right one. Conclusions FOXP2 might be involved in the language disorder in patients with schizophrenia. Epigenetic factors might be also implicated in the developing of this disorder.

  14. Inhibitions and implications associated with celebrity participation in social marketing programs focusing on HIV prevention: an exploratory research

    OpenAIRE

    Beatriz Casais; Proença, João F.

    2010-01-01

    This paper discusses celebrity participation in social marketing programs focusing on public health, especially on HIV programs. The research identifies the inhibitions of celebrity people and implications that this involvement may have upon their lives. The paper analysis data from in-depth interviews made to twenty-seven Portuguese celebrities from arts, show business and sports. The results show absence of prejudice against HIV. Famous people feel motivated to join public health and HIV ca...

  15. Diagnostic and therapeutic implications of the association between ferritin level and severity of nonalcoholic fatty liver disease

    Institute of Scientific and Technical Information of China (English)

    Luca Valenti; Paola Dongiovanni; Silvia Fargion

    2012-01-01

    Nonalcoholic fatty liver disease (NAFLD),defined by excessive liver fat deposition related to the metabolic syndrome,is a leading cause of progressive liver disease,for which accurate non-invasive staging systems and effective treatments are still lacking.Evidence has shown that increased ferritin levels are associated with the metabolic insulin resistance syndrome,and higher hepatic iron and fat content.Hyperferritinemia and iron stores have been associated with the severity of liver damage in NAFLD,and iron depletion reduced insulin resistance and liver enzymes.Recently,Kowdley et al demonstrated in a multicenter study in 628 adult patients with NAFLD from the NAFLD-clinical research network database with central re-evaluation of liver histology and iron staining that the increased serum ferritin level is an independent predictor of liver damage in patients with NAFLD,and is useful to identify NAFLD patients at risk of non-alcoholic steatohepatitis and advanced fibrosis.These data indicate that incorporation of serum ferritin level may improve the performance of noninvasive scoring of liver damage in patients with NAFLD,and that iron depletion still represents an attractive therapeutic target to prevent the progression of liver damage in these patients.

  16. Genome-wide association study of aggressive behaviour in chicken

    Science.gov (United States)

    Li, Zhenhui; Zheng, Ming; Abdalla, Bahareldin Ali; Zhang, Zhe; Xu, Zhenqiang; Ye, Qiao; Xu, Haiping; Luo, Wei; Nie, Qinghua; Zhang, Xiquan

    2016-01-01

    In the poultry industry, aggressive behaviour is a large animal welfare issue all over the world. To date, little is known about the underlying genetics of the aggressive behaviour. Here, we performed a genome-wide association study (GWAS) to explore the genetic mechanism associated with aggressive behaviour in chickens. The GWAS results showed that a total of 33 SNPs were associated with aggressive behaviour traits (P < 4.6E-6). rs312463697 on chromosome 4 was significantly associated with aggression (P = 2.10905E-07), and it was in the intron region of the sortilin-related VPS10 domain containing receptor 2 (SORCS2) gene. In addition, biological function analysis of the nearest 26 genes around the significant SNPs was performed with Ingenuity Pathway Analysis. An interaction network contained 17 genes was obtained and SORCS2 was involved in this network, interacted with nerve growth factor (NGF), nerve growth factor receptor (NGFR), dopa decarboxylase (L-dopa) and dopamine. After knockdown of SORCS2, the mRNA levels of NGF, L-dopa and dopamine receptor genes DRD1, DRD2, DRD3 and DRD4 were significantly decreased (P < 0.05). In summary, our data indicated that SORCS2 might play an important role in chicken aggressive behaviour through the regulation of dopaminergic pathways and NGF. PMID:27485826

  17. Adult Learning Open University Determinants (ALOUD) study: Psychological factors associated with study success

    NARCIS (Netherlands)

    Neroni, Joyce; De Groot, Renate; Kirschner, Paul A.

    2013-01-01

    Neroni, J., De Groot, R. H. M., & Kirschner, P. A. (2012, 7 November). Adult Learning Open University Determinants (ALOUD) study: Psychological factors associated with study success. Poster presentation at the International ICO Fall School, Girona, Spain.

  18. Adult Learning Open University Determinants study (ALOUD): Biological lifestyle factors associated with study success

    NARCIS (Netherlands)

    Gijselaers, Jérôme; De Groot, Renate; Kirschner, Paul A.

    2012-01-01

    Gijselaers, H. J. M., De Groot, R. H. M., & Kirschner, P. A. (2012, 7 November). Adult Learning Open University Determinants study (ALOUD): Biological lifestyle factors associated with study success. Poster presentation at the International ICO Fall School, Girona, Spain.

  19. A preliminary study on the association between ventilation rates in classrooms and student performance.

    Science.gov (United States)

    Shaughnessy, R J; Haverinen-Shaughnessy, U; Nevalainen, A; Moschandreas, D

    2006-12-01

    Poor conditions leading to substandard indoor air quality (IAQ) in classrooms have been frequently cited in the literature over the past two decades. However, there is limited data linking poor IAQ in the classrooms to student performance. Whereas, it is assumed that poor IAQ results in reduced attendance and learning potential, and subsequent poor student performance, validating this hypothesis presents a challenge in today's school environment. This study explores the association between student performance on standardized aptitude tests that are administered to students on a yearly basis, to classroom carbon dioxide (CO2) concentrations, which provide a surrogate of ventilation being provided to each room. Data on classroom CO2 concentrations (over a 4-5 h time span within a typical school day) were recorded in fifth grade classrooms in 54 elementary schools within a school district in the USA. Results from this preliminary study yield a significant (P classroom-level ventilation rate and test results in math. They also indicate that non-linear effects may need to be considered for better representation of the association. A larger sample size is required in order to draw more definitive conclusions. Practical Implications Future studies could focus on (1) gathering more evidence on the possible association between classroom ventilation rates and students' academic performance; (2) the linear/non-linear nature of the association; and (3) whether it is possible to detect 'no observed adverse effect level' for adequate ventilation with respect to academic performance in schools. All of this information could be used to improve guidance and take regulatory actions to ensure adequate ventilation in schools. The high prevalence of low ventilation rates, combined with the growing evidence of the positive impact that sufficient ventilation has on human performance, suggests an opportunity for improving design and management of school facilities. PMID:17100667

  20. [Genome-wide association study for adolescent idiopathic scoliosis].

    Science.gov (United States)

    Ogura, Yoji; Kou, Ikuyo; Scoliosis, Japan; Matsumoto, Morio; Watanabe, Kota; Ikegawa, Shiro

    2016-04-01

    Adolescent idiopathic scoliosis(AIS)is a polygenic disease. Genome-wide association studies(GWASs)have been performed for a lot of polygenic diseases. For AIS, we conducted GWAS and identified the first AIS locus near LBX1. After the discovery, we have extended our study by increasing the numbers of subjects and SNPs. In total, our Japanese GWAS has identified four susceptibility genes. GWASs for AIS have also been performed in the USA and China, which identified one and three susceptibility genes, respectively. Here we review GWASs in Japan and abroad and functional analysis to clarify the pathomechanism of AIS. PMID:27013625

  1. Genetic variants associated with increased risk of malignant pleural mesothelioma: a genome-wide association study.

    Science.gov (United States)

    Matullo, Giuseppe; Guarrera, Simonetta; Betti, Marta; Fiorito, Giovanni; Ferrante, Daniela; Voglino, Floriana; Cadby, Gemma; Di Gaetano, Cornelia; Rosa, Fabio; Russo, Alessia; Hirvonen, Ari; Casalone, Elisabetta; Tunesi, Sara; Padoan, Marina; Giordano, Mara; Aspesi, Anna; Casadio, Caterina; Ardissone, Francesco; Ruffini, Enrico; Betta, Pier Giacomo; Libener, Roberta; Guaschino, Roberto; Piccolini, Ezio; Neri, Monica; Musk, Arthur W B; de Klerk, Nicholas H; Hui, Jennie; Beilby, John; James, Alan L; Creaney, Jenette; Robinson, Bruce W; Mukherjee, Sutapa; Palmer, Lyle J; Mirabelli, Dario; Ugolini, Donatella; Bonassi, Stefano; Magnani, Corrado; Dianzani, Irma

    2013-01-01

    Asbestos exposure is the main risk factor for malignant pleural mesothelioma (MPM), a rare aggressive tumor. Nevertheless, only 5-17% of those exposed to asbestos develop MPM, suggesting the involvement of other environmental and genetic risk factors. To identify the genetic risk factors that may contribute to the development of MPM, we conducted a genome-wide association study (GWAS; 370,000 genotyped SNPs, 5 million imputed SNPs) in Italy, among 407 MPM cases and 389 controls with a complete history of asbestos exposure. A replication study was also undertaken and included 428 MPM cases and 1269 controls from Australia. Although no single marker reached the genome-wide significance threshold, several associations were supported by haplotype-, chromosomal region-, gene- and gene-ontology process-based analyses. Most of these SNPs were located in regions reported to harbor aberrant alterations in mesothelioma (SLC7A14, THRB, CEBP350, ADAMTS2, ETV1, PVT1 and MMP14 genes), causing at most a 2-3-fold increase in MPM risk. The Australian replication study showed significant associations in five of these chromosomal regions (3q26.2, 4q32.1, 7p22.2, 14q11.2, 15q14). Multivariate analysis suggested an independent contribution of 10 genetic variants, with an Area Under the ROC Curve (AUC) of 0.76 when only exposure and covariates were included in the model, and of 0.86 when the genetic component was also included, with a substantial increase of asbestos exposure risk estimation (odds ratio, OR: 45.28, 95% confidence interval, CI: 21.52-95.28). These results showed that genetic risk factors may play an additional role in the development of MPM, and that these should be taken into account to better estimate individual MPM risk in individuals who have been exposed to asbestos. PMID:23626673

  2. Genetic variants associated with increased risk of malignant pleural mesothelioma: a genome-wide association study.

    Directory of Open Access Journals (Sweden)

    Giuseppe Matullo

    Full Text Available Asbestos exposure is the main risk factor for malignant pleural mesothelioma (MPM, a rare aggressive tumor. Nevertheless, only 5-17% of those exposed to asbestos develop MPM, suggesting the involvement of other environmental and genetic risk factors. To identify the genetic risk factors that may contribute to the development of MPM, we conducted a genome-wide association study (GWAS; 370,000 genotyped SNPs, 5 million imputed SNPs in Italy, among 407 MPM cases and 389 controls with a complete history of asbestos exposure. A replication study was also undertaken and included 428 MPM cases and 1269 controls from Australia. Although no single marker reached the genome-wide significance threshold, several associations were supported by haplotype-, chromosomal region-, gene- and gene-ontology process-based analyses. Most of these SNPs were located in regions reported to harbor aberrant alterations in mesothelioma (SLC7A14, THRB, CEBP350, ADAMTS2, ETV1, PVT1 and MMP14 genes, causing at most a 2-3-fold increase in MPM risk. The Australian replication study showed significant associations in five of these chromosomal regions (3q26.2, 4q32.1, 7p22.2, 14q11.2, 15q14. Multivariate analysis suggested an independent contribution of 10 genetic variants, with an Area Under the ROC Curve (AUC of 0.76 when only exposure and covariates were included in the model, and of 0.86 when the genetic component was also included, with a substantial increase of asbestos exposure risk estimation (odds ratio, OR: 45.28, 95% confidence interval, CI: 21.52-95.28. These results showed that genetic risk factors may play an additional role in the development of MPM, and that these should be taken into account to better estimate individual MPM risk in individuals who have been exposed to asbestos.

  3. Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations

    DEFF Research Database (Denmark)

    Demirkan, Ayşe; van Duijn, Cornelia M; Ugocsai, Peter; Isaacs, Aaron; Pramstaller, Peter P; Liebisch, Gerhard; Wilson, James F; Johansson, Åsa; Rudan, Igor; Aulchenko, Yurii S; Kirichenko, Anatoly V; Janssens, A Cecile J W; Jansen, Ritsert C; Gnewuch, Carsten; Domingues, Francisco S; Pattaro, Cristian; Wild, Sarah H; Jonasson, Inger; Polasek, Ozren; Zorkoltseva, Irina V; Hofman, Albert; Karssen, Lennart C; Struchalin, Maksim; Floyd, James; Igl, Wilmar; Biloglav, Zrinka; Broer, Linda; Pfeufer, Arne; Pichler, Irene; Campbell, Susan; Zaboli, Ghazal; Kolcic, Ivana; Rivadeneira, Fernando; Huffman, Jennifer; Hastie, Nicholas D; Uitterlinden, Andre; Franke, Lude; Franklin, Christopher S; Vitart, Veronique; Nelson, Christopher P; Preuss, Michael; Bis, Joshua C; O'Donnell, Christopher J; Franceschini, Nora; Witteman, Jacqueline C M; Axenovich, Tatiana; Oostra, Ben A; Meitinger, Thomas; Hicks, Andrew A; Hayward, Caroline; Wright, Alan F; Gyllensten, Ulf; Campbell, Harry; Schmitz, Gerd; Jørgensen, Torben

    2012-01-01

    Phospho- and sphingolipids are crucial cellular and intracellular compounds. These lipids are required for active transport, a number of enzymatic processes, membrane formation, and cell signalling. Disruption of their metabolism leads to several diseases, with diverse neurological, psychiatric......, and metabolic consequences. A large number of phospholipid and sphingolipid species can be detected and measured in human plasma. We conducted a meta-analysis of five European family-based genome-wide association studies (N = 4034) on plasma levels of 24 sphingomyelins (SPM), 9 ceramides (CER), 57...

  4. Carbon sinks and biomass energy. A study of linkages, options and implications

    International Nuclear Information System (INIS)

    This study illustrates the important potential role of bioenergy in meeting carbon abatement requirements, in particular in relation to the Kyoto Protocol's first commitment period (2008-2012), based on carbon substitution and associated carbon sinks. Bioenergy-associated carbon sinks could strongly contribute to the acceptability of carbon sinks as a viable means for carbon abatement. Kyoto Protocol agreements and mechanisms, in particular the Bonn agreement, could prove of great value in stimulating sustainable modern bioenergy schemes. (author)

  5. Multiple Sclerosis Associated Risk Factors: A Case-Control Study

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    Jalal POOROLAJAL

    2015-11-01

    Full Text Available Background: Hamadan Province is one of the high-risk regions in Iran for Multiple sclerosis (MS. A majority of the epidemiological studies conducted in Iran addressing MS are descriptive. This study was conducted to assess MS and its associated risk factors in Hamadan Province, the west of Iran.Methods: This case-control study compared 100 patients with MS (case group and 100 patients with acute infectious diseases (control group from September 2013 to March 2014. A checklist was used to assess the demographic, medical, and family history of the patients. The Friedman-Rosenman questionnaire was also used to assess personality type. Statistical analysis was performed using logistic regression model with Stata 11 software program.Results: The adjusted odds ratio (OR estimate of MS was 4.37 (95% CI: 2.33, 8.20 for females compared to males; 0.15 (95% CI: 0.06, 0.43 for people aged above 50 years compared to aged 14 to 29 years; 0.44 (95% CI: 0.21, 0.91 for overweight or obese people compared to normal weights. Crude OR indicated a significant association between the occurrence of MS and exclusive breast feeding, season of birth, and smoking. However, the association was not statistically significant after adjustment for other covariates.Conclusion: The risk of MS is significantly lower in male gender, obese/overweight, and old people. Furthermore, non-smoking, non-exclusive breast-feeding, and born in autumn may increase the risk of MS but need further investigation. However, long-term large prospective cohort studies are needed to investigate the true effect of the potential risk factors on MS. Keywords: Multiple sclerosis, Risk factors, Case-control study, Iran

  6. The Western dietary pattern is associated with increased serum concentrations of free estradiol in postmenopausal women: implications for breast cancer prevention.

    Science.gov (United States)

    Sánchez-Zamorano, Luisa María; Flores-Luna, Lourdes; Angeles-Llerenas, Angélica; Ortega-Olvera, Carolina; Lazcano-Ponce, Eduardo; Romieu, Isabelle; Mainero-Ratchelous, Fernando; Torres-Mejía, Gabriela

    2016-08-01

    Little is known about the possible influence of food consumption on the serum concentrations of endogenous sex hormones in postmenopausal women. We evaluated the relationships of the Western dietary pattern with serum concentrations of free estradiol and testosterone of postmenopausal women to test the hypothesis that a highly Western dietary pattern is associated with high serum concentrations of these hormones. We used data from a representative subsample of 305 women from the control group of a population-based case-control study conducted in Mexico from 2004 to 2007. A Western dietary pattern index value was compared with log natural serum concentrations of testosterone and estradiol using multiple linear regression models. The median values of serum concentrations of free estradiol and testosterone were 0.26 pg/mL (interquartile range, 0.14-0.43) and 0.40 pg/mL (interquartile range, 0.30-0.70), respectively. A multiple linear regression model showed that for each unit increase in the Western dietary pattern index, there was a 16.2% increase in the serum concentrations of free estradiol (β=0.15; 95% confidence interval [CI], 0.01-0.29); for each additional serving per week of chicken eggs, the increase was 31.0% (β=0.27; 95% CI, 0.106-0.441); for each additional serving per week of red meat, the increase was 64.9% (β=0.50; 95% CI, 0.01-1.01). There was no relationship found between dietary patterns and serum concentrations of free testosterone. The present findings suggest that intake of a Western diet, particularly of chicken eggs and meat, increases serum concentrations of free estradiol; these results have implications for breast cancer prevention. PMID:27440539

  7. Genome-Wide Association Studies in Primary Biliary Cirrhosis.

    Science.gov (United States)

    Gulamhusein, Aliya F; Juran, Brian D; Lazaridis, Konstantinos N

    2015-11-01

    Genome-wide association studies (GWASs) have been a significant technological advance in our ability to evaluate the genetic architecture of complex diseases such as primary biliary cirrhosis (PBC). To date, six large-scale studies have been performed that have identified 27 risk loci in addition to human leukocyte antigen (HLA) associated with PBC. The identified risk variants emphasize important disease concepts; namely, that disturbances in immunoregulatory pathways are important in the pathogenesis of PBC and that such perturbations are shared among a diverse number of autoimmune diseases-suggesting the risk architecture may confer a generalized propensity to autoimmunity not necessarily specific to PBC. Furthermore, the impact of non-HLA risk variants, particularly in genes involved with interleukin-12 signaling, and ethnic variation in conferring susceptibility to PBC have been highlighted. Although GWASs have been a critical stepping stone in understanding common genetic variation contributing to PBC, limitations pertaining to power, sample availability, and strong linkage disequilibrium across genes have left us with an incomplete understanding of the genetic underpinnings of disease pathogenesis. Future efforts to gain insight into this missing heritability, the genetic variation that contributes to important disease outcomes, and the functional consequences of associated variants will be critical if practical clinical translation is to be realized. PMID:26676814

  8. Genome-wide association study of periodontal pathogen colonization.

    Science.gov (United States)

    Divaris, K; Monda, K L; North, K E; Olshan, A F; Lange, E M; Moss, K; Barros, S P; Beck, J D; Offenbacher, S

    2012-07-01

    Pathological shifts of the human microbiome are characteristic of many diseases, including chronic periodontitis. To date, there is limited evidence on host genetic risk loci associated with periodontal pathogen colonization. We conducted a genome-wide association (GWA) study among 1,020 white participants of the Atherosclerosis Risk in Communities Study, whose periodontal diagnosis ranged from healthy to severe chronic periodontitis, and for whom "checkerboard" DNA-DNA hybridization quantification of 8 periodontal pathogens was performed. We examined 3 traits: "high red" and "high orange" bacterial complexes, and "high" Aggregatibacter actinomycetemcomitans (Aa) colonization. Genotyping was performed on the Affymetrix 6.0 platform. Imputation to 2.5 million markers was based on HapMap II-CEU, and a multiple-test correction was applied (genome-wide threshold of p orange" complex microbiota, but not for Aa, had the same effect direction in a second sample of 123 African-American participants. None of these polymorphisms was associated with periodontitis diagnosis. Investigations replicating these findings may lead to an improved understanding of the complex nature of host-microbiome interactions that characterizes states of health and disease. PMID:22699663

  9. An efficient empirical Bayes method for genomewide association studies.

    Science.gov (United States)

    Wang, Q; Wei, J; Pan, Y; Xu, S

    2016-08-01

    Linear mixed model (LMM) is one of the most popular methods for genomewide association studies (GWAS). Numerous forms of LMM have been developed; however, there are two major issues in GWAS that have not been fully addressed before. The two issues are (i) the genomic background noise and (ii) low statistical power after Bonferroni correction. We proposed an empirical Bayes (EB) method by assigning each marker effect a normal prior distribution, resulting in shrinkage estimates of marker effects. We found that such a shrinkage approach can selectively shrink marker effects and reduce the noise level to zero for majority of non-associated markers. In the meantime, the EB method allows us to use an 'effective number of tests' to perform Bonferroni correction for multiple tests. Simulation studies for both human and pig data showed that EB method can significantly increase statistical power compared with the widely used exact GWAS methods, such as GEMMA and FaST-LMM-Select. Real data analyses in human breast cancer identified improved detection signals for markers previously known to be associated with breast cancer. We therefore believe that EB method is a valuable tool for identifying the genetic basis of complex traits. PMID:26582716

  10. Sediment-associated pesticides in an urban stream in Guangzhou, China: implication of a shift in pesticide use patterns.

    Science.gov (United States)

    Li, Huizhen; Sun, Baoquan; Lydy, Michael J; You, Jing

    2013-04-01

    Pesticide use patterns in China have changed in recent years; however, the study of the environmental fate of current-use pesticides (CUPs) and their ecotoxicological significance in aquatic ecosystems is limited. In the present study, sediments were collected from an urban stream in the Chinese city of Guangzhou. Sediment-associated legacy organochlorine pesticides and CUPs-including organophosphates, pyrethroids, fipronil, and abamectin-were analyzed. Additionally, the relative toxicity of the sediments was evaluated with 10-d bioassays using Chironomus dilutus. Fifteen of 16 sediments collected from the stream were acutely toxic to C. dilutus, with 81% of the samples causing 100% mortality. Abamectin, fipronil, and pyrethroids (mainly cypermethrin) were identified as the principal contributors to the noted toxicity in the midges, with median predicted toxic units of 1.63, 1.63, and 1.03, respectively. Sediments taken from downstream sites, where residential and industrial regions were located, had elevated CUP concentrations and sediment toxicity compared with upstream sites. The present study is the first of its kind to link sediment CUPs, fipronil, and abamectin concentrations with toxicity in urban streams in China with a focus on shifting pesticide usage patterns. PMID:23377859

  11. A meta-analysis of genome-wide association studies identifies novel variants associated with osteoarthritis of the hip

    DEFF Research Database (Denmark)

    Evangelou, Evangelos; Kerkhof, Hanneke J; Styrkarsdottir, Unnur;

    2014-01-01

    Osteoarthritis (OA) is the most common form of arthritis with a clear genetic component. To identify novel loci associated with hip OA we performed a meta-analysis of genome-wide association studies (GWAS) on European subjects....

  12. Study on acute burn injury survivors and the associated issues

    Institute of Scientific and Technical Information of China (English)

    Jonathan Bayuo; Pius Agbenorku; Richcane Amankwa

    2016-01-01

    Objective: To explore the phenomenon of surviving burn injury and its associated issues and concerns. Methods: A cross sectional survey approach was utilized to obtain data from one hundred burn survivors who were purposely selected. Descriptive statistics and content analysis were used to analyze data. Results: Findings from the study indicate that burns from flames stood out as a major cause of burns. Physical discomfort/pain, anxiety, needing assistance in meeting self-care needs, financial and social limitations were identified as the major impact of the injury. Furthermore, participants perceived the existence of societal stigma. In addition, hope in God or a spiritual being as well as family support were the two key resources participants relied on to cope effectively. Conclusions: Surviving burn injury is associated with varied physical, social and psy-chological factors and survivors may need professional assistance to fully adjust after discharge.

  13. Feasibility study for banking loan using association rule mining classifier

    Directory of Open Access Journals (Sweden)

    Agus Sasmito Aribowo

    2015-03-01

    Full Text Available The problem of bad loans in the koperasi can be reduced if the koperasi can detect whether member can complete the mortgage debt or decline. The method used for identify characteristic patterns of prospective lenders in this study, called Association Rule Mining Classifier. Pattern of credit member will be converted into knowledge and used to classify other creditors. Classification process would separate creditors into two groups: good credit and bad credit groups. Research using prototyping for implementing the design into an application using programming language and development tool. The process of association rule mining using Weighted Itemset Tidset (WIT–tree methods. The results shown that the method can predict the prospective customer credit. Training data set using 120 customers who already know their credit history. Data test used 61 customers who apply for credit. The results concluded that 42 customers will be paying off their loans and 19 clients are decline

  14. Characterization of the deleted in autism 1 protein family: implications for studying cognitive disorders.

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    Azhari Aziz

    Full Text Available Autism spectrum disorders (ASDs are a group of commonly occurring, highly-heritable developmental disabilities. Human genes c3orf58 or Deleted In Autism-1 (DIA1 and cXorf36 or Deleted in Autism-1 Related (DIA1R are implicated in ASD and mental retardation. Both gene products encode signal peptides for targeting to the secretory pathway. As evolutionary medicine has emerged as a key tool for understanding increasing numbers of human diseases, we have used an evolutionary approach to study DIA1 and DIA1R. We found DIA1 conserved from cnidarians to humans, indicating DIA1 evolution coincided with the development of the first primitive synapses. Nematodes lack a DIA1 homologue, indicating Caenorhabditis elegans is not suitable for studying all aspects of ASD etiology, while zebrafish encode two DIA1 paralogues. By contrast to DIA1, DIA1R was found exclusively in vertebrates, with an origin coinciding with the whole-genome duplication events occurring early in the vertebrate lineage, and the evolution of the more complex vertebrate nervous system. Strikingly, DIA1R was present in schooling fish but absent in fish that have adopted a more solitary lifestyle. An additional DIA1-related gene we named DIA1-Like (DIA1L, lacks a signal peptide and is restricted to the genomes of the echinoderm Strongylocentrotus purpuratus and cephalochordate Branchiostoma floridae. Evidence for remarkable DIA1L gene expansion was found in B. floridae. Amino acid alignments of DIA1 family gene products revealed a potential Golgi-retention motif and a number of conserved motifs with unknown function. Furthermore, a glycine and three cysteine residues were absolutely conserved in all DIA1-family proteins, indicating a critical role in protein structure and/or function. We have therefore identified a new metazoan protein family, the DIA1-family, and understanding the biological roles of DIA1-family members will have implications for our understanding of autism and mental

  15. Identification of Promising Mutants Associated with Egg Production Traits Revealed by Genome-Wide Association Study.

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    Jingwei Yuan

    Full Text Available Egg number (EN, egg laying rate (LR and age at first egg (AFE are important production traits related to egg production in poultry industry. To better understand the knowledge of genetic architecture of dynamic EN during the whole laying cycle and provide the precise positions of associated variants for EN, LR and AFE, laying records from 21 to 72 weeks of age were collected individually for 1,534 F2 hens produced by reciprocal crosses between White Leghorn and Dongxiang Blue-shelled chicken, and their genotypes were assayed by chicken 600 K Affymetrix high density genotyping arrays. Subsequently, pedigree and SNP-based genetic parameters were estimated and a genome-wide association study (GWAS was conducted on EN, LR and AFE. The heritability estimates were similar between pedigree and SNP-based estimates varying from 0.17 to 0.36. In the GWA analysis, we identified nine genome-wide significant loci associated with EN of the laying periods from 21 to 26 weeks, 27 to 36 weeks and 37 to 72 weeks. Analysis of GTF2A1 and CLSPN suggested that they influenced the function of ovary and uterus, and may be considered as relevant candidates. The identified SNP rs314448799 for accumulative EN from 21 to 40 weeks on chromosome 5 created phenotypic differences of 6.86 eggs between two homozygous genotypes, which could be potentially applied to the molecular breeding for EN selection. Moreover, our finding showed that LR was a moderate polygenic trait. The suggestive significant region on chromosome 16 for AFE suggested the relationship between sex maturity and immune in the current population. The present study comprehensively evaluates the role of genetic variants in the development of egg laying. The findings will be helpful to investigation of causative genes function and future marker-assisted selection and genomic selection in chickens.

  16. Neuregulin-1 and schizophrenia in the genome-wide association study era.

    Science.gov (United States)

    Mostaid, Md Shaki; Lloyd, David; Liberg, Benny; Sundram, Suresh; Pereira, Avril; Pantelis, Christos; Karl, Tim; Weickert, Cynthia Shannon; Everall, Ian P; Bousman, Chad A

    2016-09-01

    Clinical and pre-clinical evidence has implicated neuregulin 1 (NRG1) as a critical component in the pathophysiology of schizophrenia. However, the arrival of the genome-wide association study (GWAS) era has yielded results that challenge the relevance of NRG1 in schizophrenia due to the absence of a genome-wide significant NRG1 variant associated with schizophrenia. To assess NRG1's relevance to schizophrenia in the GWAS era, we provide a targeted review of recent preclinical evidence on NRG1's role in regulating several aspects of excitatory/inhibitory neurotransmission and in turn schizophrenia risk. We also present a systematic review of the last decade of clinical research examining NRG1 in the context of schizophrenia. We include concise summaries of genotypic variation, gene-expression, protein expression, structural and functional neuroimaging as well as cognitive studies conducted during this time period. We conclude with recommendations for future clinical and preclinical work that we hope will help prioritize a strategy forward to further advance our understanding of the relationship between NRG1 and schizophrenia. PMID:27283360

  17. Black Families' Lay Views on Health and the Implications for Health Promotion: A Community-Based Study in the UK

    Science.gov (United States)

    Ochieng, Bertha

    2012-01-01

    Many studies focusing on beliefs about health and health promotion have paid little attention to the life experiences of Black and other visible minority ethnic families in western societies. This paper is a report of a study exploring Black families' beliefs about health and the implications of such beliefs for health promotion. Ten Black…

  18. A candidate gene association study on muscat flavor in grapevine (Vitis vinifera L.

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    Boursiquot Jean-Michel

    2010-11-01

    Full Text Available Abstract Background The sweet, floral flavor typical of Muscat varieties (Muscats, due to high levels of monoterpenoids (geraniol, linalool and nerol, is highly distinct and has been greatly appreciated both in table grapes and in wine since ancient times. Muscat flavor determination in grape (Vitis vinifera L. has up to now been studied by evaluating monoterpenoid levels through QTL analysis. These studies have revealed co-localization of 1-deoxy-D-xylulose 5-phosphate synthase (VvDXS with the major QTL positioned on chromosome 5. Results We resequenced VvDXS in an ad hoc association population of 148 grape varieties, which included muscat-flavored, aromatic and neutral accessions as well as muscat-like aromatic mutants and non-aromatic offsprings of Muscats. Gene nucleotide diversity and intragenic linkage disequilibrium (LD were evaluated. Structured association analysis revealed three SNPs in moderate LD to be significantly associated with muscat-flavored varieties. We identified a putative causal SNP responsible for a predicted non-neutral substitution and we discuss its possible implications for flavor metabolism. Network analysis revealed a major star-shaped cluster of reconstructed haplotypes unique to muscat-flavored varieties. Moreover, muscat-like aromatic mutants displayed unique non-synonymous mutations near the mutated site of Muscat genotypes. Conclusions This study is a crucial step forward in understanding the genetic regulation of muscat flavor in grapevine and it also sheds light on the domestication history of Muscats. VvDXS appears to be a possible human-selected locus in grapevine domestication and post-domestication. The putative causal SNP identified in Muscat varieties as well as the unique mutations identifying the muscat-like aromatic mutants under study may be immediately applied in marker-assisted breeding programs aimed at enhancing fragrance and aroma complexity respectively in table grape and wine cultivars.

  19. 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.

  20. 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.

  1. Genome-wide association study identified a narrow chromosome 1 region associated with chicken growth traits.

    Directory of Open Access Journals (Sweden)

    Liang Xie

    Full Text Available Chicken growth traits are important economic traits in broilers. A large number of studies are available on finding genetic factors affecting chicken growth. However, most of these studies identified chromosome regions containing putative quantitative trait loci and finding causal mutations is still a challenge. In this genome-wide association study (GWAS, we identified a narrow 1.5 Mb region (173.5-175 Mb of chicken (Gallus gallus chromosome (GGA 1 to be strongly associated with chicken growth using 47,678 SNPs and 489 F2 chickens. The growth traits included aggregate body weight (BW at 0-90 d of age measured weekly, biweekly average daily gains (ADG derived from weekly body weight, and breast muscle weight (BMW, leg muscle weight (LMW and wing weight (WW at 90 d of age. Five SNPs in the 1.5 Mb KPNA3-FOXO1A region at GGA1 had the highest significant effects for all growth traits in this study, including a SNP at 8.9 Kb upstream of FOXO1A for BW at 22-48 d and 70 d, a SNP at 1.9 Kb downstream of FOXO1A for WW, a SNP at 20.9 Kb downstream of ENSGALG00000022732 for ADG at 29-42 d, a SNP in INTS6 for BW at 90 d, and a SNP in KPNA3 for BMW and LMW. The 1.5 Mb KPNA3-FOXO1A region contained two microRNA genes that could bind to messenger ribonucleic acid (mRNA of IGF1, FOXO1A and KPNA3. It was further indicated that the 1.5 Mb GGA1 region had the strongest effects on chicken growth during 22-42 d.

  2. Dietary Fatty Acids Differentially Associate with Fasting Versus 2-Hour Glucose Homeostasis: Implications for The Management of Subtypes of Prediabetes.

    Science.gov (United States)

    Guess, Nicola; Perreault, Leigh; Kerege, Anna; Strauss, Allison; Bergman, Bryan C

    2016-01-01

    Over-nutrition has fuelled the global epidemic of type 2 diabetes, but the role of individual macronutrients to the diabetogenic process is not well delineated. We aimed to examine the impact of dietary fatty acid intake on fasting and 2-hour plasma glucose concentrations, as well as tissue-specific insulin action governing each. Normoglycemic controls (n = 15), athletes (n = 14), and obese (n = 23), as well as people with prediabetes (n = 10) and type 2 diabetes (n = 11), were queried about their habitual diet using a Food Frequency Questionnaire. All subjects were screened by an oral glucose tolerance test (OGTT) and studied using the hyperinsulinemic/euglycemic clamp with infusion of 6,62H2-glucose. Multiple regression was performed to examine relationships between dietary fat intake and 1) fasting plasma glucose, 2) % suppression of endogenous glucose production, 3) 2-hour post-OGTT plasma glucose, and 4) skeletal muscle insulin sensitivity (glucose rate of disappearance (Rd) and non-oxidative glucose disposal (NOGD)). The %kcal from saturated fat (SFA) was positively associated with fasting (β = 0.303, P = 0.018) and 2-hour plasma glucose (β = 0.415, P<0.001), and negatively related to % suppression of hepatic glucose production (β = -0.245, P = 0.049), clamp Rd (β = -0.256, P = 0.001) and NOGD (β = -0.257, P = 0.001). The %kcal from trans fat was also negatively related to clamp Rd (β = -0.209, P = 0.008) and NOGD (β = -0.210, P = 0.008). In contrast, the %kcal from polyunsaturated fat (PUFA) was negatively associated with 2-hour glucose levels (β = -0.383, P = 0.001), and positively related to Rd (β = 0.253, P = 0.007) and NOGD (β = 0.246, P = 0.008). Dietary advice to prevent diabetes should consider the underlying pathophysiology of the prediabetic state. PMID:26999667

  3. Dietary Fatty Acids Differentially Associate with Fasting Versus 2-Hour Glucose Homeostasis: Implications for The Management of Subtypes of Prediabetes

    Science.gov (United States)

    Guess, Nicola; Perreault, Leigh; Kerege, Anna; Strauss, Allison; Bergman, Bryan C.

    2016-01-01

    Over-nutrition has fuelled the global epidemic of type 2 diabetes, but the role of individual macronutrients to the diabetogenic process is not well delineated. We aimed to examine the impact of dietary fatty acid intake on fasting and 2-hour plasma glucose concentrations, as well as tissue-specific insulin action governing each. Normoglycemic controls (n = 15), athletes (n = 14), and obese (n = 23), as well as people with prediabetes (n = 10) and type 2 diabetes (n = 11), were queried about their habitual diet using a Food Frequency Questionnaire. All subjects were screened by an oral glucose tolerance test (OGTT) and studied using the hyperinsulinemic/euglycemic clamp with infusion of 6,62H2-glucose. Multiple regression was performed to examine relationships between dietary fat intake and 1) fasting plasma glucose, 2) % suppression of endogenous glucose production, 3) 2-hour post-OGTT plasma glucose, and 4) skeletal muscle insulin sensitivity (glucose rate of disappearance (Rd) and non-oxidative glucose disposal (NOGD)). The %kcal from saturated fat (SFA) was positively associated with fasting (β = 0.303, P = 0.018) and 2-hour plasma glucose (β = 0.415, P<0.001), and negatively related to % suppression of hepatic glucose production (β = -0.245, P = 0.049), clamp Rd (β = -0.256, P = 0.001) and NOGD (β = -0.257, P = 0.001). The %kcal from trans fat was also negatively related to clamp Rd (β = -0.209, P = 0.008) and NOGD (β = -0.210, P = 0.008). In contrast, the %kcal from polyunsaturated fat (PUFA) was negatively associated with 2-hour glucose levels (β = -0.383, P = 0.001), and positively related to Rd (β = 0.253, P = 0.007) and NOGD (β = 0.246, P = 0.008). Dietary advice to prevent diabetes should consider the underlying pathophysiology of the prediabetic state. PMID:26999667

  4. Polycyclic aromatic hydrocarbons associated with road deposited solid and their ecological risk: Implications for road stormwater reuse.

    Science.gov (United States)

    Liu, Liang; Liu, An; Li, Yang; Zhang, Lixun; Zhang, Guijuan; Guan, Yuntao

    2016-09-01

    Reusing stormwater is becoming popular worldwide. However, urban road stormwater commonly contains toxic pollutants, such as polycyclic aromatic hydrocarbons (PAHs), which could undermine reuse safety. This study investigated pollution level of PAHs and their composition build-up on urban roads in a typical megacity in South China. The potential ecological risk posed by PAHs associated with road deposited solid (RDS) was also assessed. Results showed that ecological risk levels varied based on different land use types, which could be significantly influenced by the composition of PAHs and characteristics of RDS. A higher percentage of high-ring PAHs, such as more than four rings, could pose higher ecological risk and are more likely to undermine stormwater reuse safety. Additionally, the degree of traffic congestion rather than traffic volume was found to exert a more significant influence on the generation of high-ring PAH generation. Therefore, stormwater from more congested roads might need proper treatment (particularly for removing high-ring PAHs) before reuse or could be suitable for purposes requiring low-water-quality. The findings of this study are expected to contribute to adequate stormwater reuse strategy development and to enhance the safety of urban road stormwater reuse. PMID:27135582

  5. Specific in vivo association between the bHLH and LIM proteins implicated in human T cell leukemia.

    OpenAIRE

    Wadman, I; Li, J.; Bash, R O; Forster, A.; Osada, H; Rabbitts, T H; Baer, R

    1994-01-01

    The protein products of proto-oncogenes implicated in T cell acute lymphoblastic leukemia include two distinct families of presumptive transcription factors. RBTN1 and RBTN2 encode highly related proteins that possess cysteine-rich LIM motifs. TAL1, TAL2 and LYL1 encode a unique subgroup of basic helix-loop-helix (bHLH) proteins that share exceptional homology in their bHLH sequences. We have found that RBTN1 and RBTN2 have the ability to interact with each of the leukemogenic bHLH proteins (...

  6. Multicentric Genome-Wide Association Study for Primary Spontaneous Pneumothorax.

    Science.gov (United States)

    Sousa, Inês; Abrantes, Patrícia; Francisco, Vânia; Teixeira, Gilberto; Monteiro, Marta; Neves, João; Norte, Ana; Robalo Cordeiro, Carlos; Moura E Sá, João; Reis, Ernestina; Santos, Patrícia; Oliveira, Manuela; Sousa, Susana; Fradinho, Marta; Malheiro, Filipa; Negrão, Luís; Feijó, Salvato; Oliveira, Sofia A

    2016-01-01

    Despite elevated incidence and recurrence rates for Primary Spontaneous Pneumothorax (PSP), little is known about its etiology, and the genetics of idiopathic PSP remains unexplored. To identify genetic variants contributing to sporadic PSP risk, we conducted the first PSP genome-wide association study. Two replicate pools of 92 Portuguese PSP cases and of 129 age- and sex-matched controls were allelotyped in triplicate on the Affymetrix Human SNP Array 6.0 arrays. Markers passing quality control were ranked by relative allele score difference between cases and controls (|RASdiff|), by a novel cluster method and by a combined Z-test. 101 single nucleotide polymorphisms (SNPs) were selected using these three approaches for technical validation by individual genotyping in the discovery dataset. 87 out of 94 successfully tested SNPs were nominally associated in the discovery dataset. Replication of the 87 technically validated SNPs was then carried out in an independent replication dataset of 100 Portuguese cases and 425 controls. The intergenic rs4733649 SNP in chromosome 8 (between LINC00824 and LINC00977) was associated with PSP in the discovery (P = 4.07E-03, ORC[95% CI] = 1.88[1.22-2.89]), replication (P = 1.50E-02, ORC[95% CI] = 1.50[1.08-2.09]) and combined datasets (P = 8.61E-05, ORC[95% CI] = 1.65[1.29-2.13]). This study identified for the first time one genetic risk factor for sporadic PSP, but future studies are warranted to further confirm this finding in other populations and uncover its functional role in PSP pathogenesis. PMID:27203581

  7. Tracer microrheology study of a hydrophobically modified comblike associative polymer.

    Science.gov (United States)

    Abdala, Ahmed A; Amin, Samiul; van Zanten, John H; Khan, Saad A

    2015-04-01

    The viscoelastic properties of associative polymers are important not only for their use as rheology modifiers but also to understand their complex structure in aqueous media. In this study, the dynamics of comblike hydrophobically modified alkali swellable associative (HASE) polymers are probed using diffusing wave spectroscopy (DWS) based tracer microrheology. DWS-based tracer microrheology accurately probes the dynamics of HASE polymers, and the extracted microrheological moduli versus frequency profile obtained from this technique closely matches that obtained from rotational rheometry measurements. Quantitatively, however, the moduli extracted from DWS-based tracer microrheology measurements are slightly higher than those obtained using rotational rheometry. The creep compliance, elastic modulus, and relaxation time concentration scaling behavior exhibits a power-law dependence. The length scale associated with the elastic to glassy behavior change is obtained from the time-dependent diffusion coefficient. The Zimm-Rouse type scaling is recovered at high frequencies but shows a concentration effect switching from Zimm to more Rouse-like behavior at higher concentrations. PMID:25775221

  8. Detecting rare variants in case-parents association studies.

    Directory of Open Access Journals (Sweden)

    Kuang-Fu Cheng

    Full Text Available Despite the success of genome-wide association studies (GWASs in detecting common variants (minor allele frequency ≥0.05 many suggested that rare variants also contribute to the genetic architecture of diseases. Recently, researchers demonstrated that rare variants can show a strong stratification which may not be corrected by using existing methods. In this paper, we focus on a case-parents study and consider methods for testing group-wise association between multiple rare (and common variants in a gene region and a disease. All tests depend on the numbers of transmitted mutant alleles from parents to their diseased children across variants and hence they are robust to the effect of population stratification. We use extensive simulation studies to compare the performance of four competing tests: the largest single-variant transmission disequilibrium test (TDT, multivariable test, combined TDT, and a likelihood ratio test based on a random-effects model. We find that the likelihood ratio test is most powerful in a wide range of settings and there is no negative impact to its power performance when common variants are also included in the analysis. If deleterious and protective variants are simultaneously analyzed, the likelihood ratio test was generally insensitive to the effect directionality, unless the effects are extremely inconsistent in one direction.

  9. [New insight of genome-wide association study (GWAS)].

    Science.gov (United States)

    Hotta, Kikuko

    2013-02-01

    The number of obese patients is increasing in Japan, due to the westernization of lifestyle. Obesity, especially visceral fat obesity, is important for the development of metabolic syndrome. Genetic factors are important for the development of obesity as well as environmental factors. Importance of genetic factors of fat distribution is also reported. Recent genome-wide association studies (GWASs) have revealed the obesity and fat distribution-related polymorphisms. GWAS will highlight a better understanding of the underlying molecular mechanisms in the regulation of obesity and distribution of body fat. PMID:23631198

  10. Universal design of workplaces through the use of Poka-Yokes: Case study and implications

    Directory of Open Access Journals (Sweden)

    Cristóbal Miralles

    2011-10-01

    Full Text Available Purpose: Employment plays an important part in many people’s lives beyond merely providing income, since continued participation in work can have many therapeutic benefits for workers defined as disabled. However, disabled workers face a range of barriers to employment, despite legislation intended to improve workplace accessibility emphasizing adaptations to the workplace, which many employers often find difficult and expensive. The Poka-Yoke approach was developed in the manufacturing industry as a way of improving productivity by reducing errors using often very simple adaptations. This paper argues that, as Poka-Yokes are designed to make life easier and improve the performance of workers without impairments, they are closer to the philosophy of Universal Design than to Accessible Design, and offer an easy and inclusive way of making work more accessible for all kind of workers. Design/methodology/approach: This paper provides a case study demonstrating the use of the Poka-Yoke approach in a sheltered work centre for disabled; highlighting how they served to improve accessibility to work by fulfilling Universal Design principles. Findings: Our research allows us to demonstrate the great potential of Poka-yokes for gaining accessibility to the workplace. The real application of this approach, both in sheltered work centres and ordinary companies, can contribute to improve the high unemployment rates of disabled people. Research limitations/implications: The proposal is innovative and was applied in one specific company. Thus, a range of customized Poka-yokes would be desirable for different industrial sectors. Practical implications: Managers of sheltered work centres, and also of ordinary companies, can realize about the great potential of Poka-Yokes as an easy means of gaining flexibility and accessibility. Originality/value: There are very few papers relating lean manufacturing tools and disability. Our approach analyzes the benefits of

  11. Modelling BMI trajectories in children for genetic association studies.

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    Nicole M Warrington

    Full Text Available BACKGROUND: The timing of associations between common genetic variants and changes in growth patterns over childhood may provide insight into the development of obesity in later life. To address this question, it is important to define appropriate statistical models to allow for the detection of genetic effects influencing longitudinal childhood growth. METHODS AND RESULTS: Children from The Western Australian Pregnancy Cohort (Raine; n=1,506 Study were genotyped at 17 genetic loci shown to be associated with childhood obesity (FTO, MC4R, TMEM18, GNPDA2, KCTD15, NEGR1, BDNF, ETV5, SEC16B, LYPLAL1, TFAP2B, MTCH2, BCDIN3D, NRXN3, SH2B1, MRSA and an obesity-risk-allele-score was calculated as the total number of 'risk alleles' possessed by each individual. To determine the statistical method that fits these data and has the ability to detect genetic differences in BMI growth profile, four methods were investigated: linear mixed effects model, linear mixed effects model with skew-t random errors, semi-parametric linear mixed models and a non-linear mixed effects model. Of the four methods, the semi-parametric linear mixed model method was the most efficient for modelling childhood growth to detect modest genetic effects in this cohort. Using this method, three of the 17 loci were significantly associated with BMI intercept or trajectory in females and four in males. Additionally, the obesity-risk-allele score was associated with increased average BMI (female: β=0.0049, P=0.0181; male: β=0.0071, P=0.0001 and rate of growth (female: β=0.0012, P=0.0006; male: β=0.0008, P=0.0068 throughout childhood. CONCLUSIONS: Using statistical models appropriate to detect genetic variants, variations in adult obesity genes were associated with childhood growth. There were also differences between males and females. This study provides evidence of genetic effects that may identify individuals early in life that are more likely to rapidly increase their BMI

  12. Gene ontology analysis of pairwise genetic associations in two genome-wide studies of sporadic ALS

    Directory of Open Access Journals (Sweden)

    Kim Nora

    2012-07-01

    analysis of pairwise genetic associations in two GWAS of sporadic ALS revealed a set of genes involved in cellular component organization and actin cytoskeleton, more specifically, that were not reported by prior GWAS. However, prior biological studies have implicated actin cytoskeleton in ALS and other motor neuron diseases. This study supports the idea that pathway-level analysis of GWAS data may discover important associations not revealed using conventional one-SNP-at-a-time approaches.

  13. A Multilevel Study of Students' Motivations of Studying Accounting: Implications for Employers

    Science.gov (United States)

    Law, Philip; Yuen, Desmond

    2012-01-01

    Purpose: The purpose of this study is to examine the influence of factors affecting students' choice of accounting as a study major in Hong Kong. Design/methodology/approach: Multinomial logistic regression and Hierarchical Generalized Linear Modeling (HGLM) are used to analyze the survey data for the level one and level two data, which is the…

  14. Association between androgenetic alopecia and hyperlipidemia: a comparative study

    Directory of Open Access Journals (Sweden)

    Ramin Taheri

    2013-12-01

    Full Text Available Background: Androgenetic alopecia (AGA is the most common type of progressive balding that appears with early loss of hair, chiefly from the vertex. There has been significant relationship between AGA with coronary artery disease and related risk factors, such as hypertension in some studies. The aim of this study is to investigate the association between androgenetic alopecia with hyperlipidemia.Methods: This cross-sectional study was performed on 112 patients with vertex type AGA (in male grade 3 or higher Hamilton- Norwood scale, and in female grade 2 or higher Ludwig scale (study group and 115 persons age and sex matched, with normal hair status (Normal group. None of participants had diabetes mellitus, hypothyroidism, liver disease, kidney disease and none of them had history of smoking and using drugs with effect on serum lipids. They were 20-35 years old and their body mass index were 20-30. Blood samples were obtained following 12 hours fasting status and serum levels of triglyceride (TG, cholesterol, high-density lipoprotein (HDL and low-density lipoprotein (LDL were determined using standard laboratory methods. Total cholesterol greater than 240 or TG greater than 200 or LDL greater than 160 or HDL less than 40 in men or HDL less than 50 in women were considered hyperlipidemia.Results: In androgenetic alopecia group 46.4% and 47% of normal group were female. Mean (±SE of total cholesterol (172.4±3.1, 148.8±3.1, P 0.05.Conclusion: The findings showed that there is no relationship between AGA and hyperlipidemia. Regarding to high levels of total cholesterol, LDL and triglyceride in AGA patients, it seems that, AGA increases risk of coronary heart disease. To determine a definite association between AGA and hyperlipidemia more studies are recommended.

  15. A genome-wide association study identifies five loci influencing facial morphology in Europeans.

    Directory of Open Access Journals (Sweden)

    Fan Liu

    2012-09-01

    Full Text Available Inter-individual variation in facial shape is one of the most noticeable phenotypes in humans, and it is clearly under genetic regulation; however, almost nothing is known about the genetic basis of normal human facial morphology. We therefore conducted a genome-wide association study for facial shape phenotypes in multiple discovery and replication cohorts, considering almost ten thousand individuals of European descent from several countries. Phenotyping of facial shape features was based on landmark data obtained from three-dimensional head magnetic resonance images (MRIs and two-dimensional portrait images. We identified five independent genetic loci associated with different facial phenotypes, suggesting the involvement of five candidate genes--PRDM16, PAX3, TP63, C5orf50, and COL17A1--in the determination of the human face. Three of them have been implicated previously in vertebrate craniofacial development and disease, and the remaining two genes potentially represent novel players in the molecular networks governing facial development. Our finding at PAX3 influencing the position of the nasion replicates a recent GWAS of facial features. In addition to the reported GWA findings, we established links between common DNA variants previously associated with NSCL/P at 2p21, 8q24, 13q31, and 17q22 and normal facial-shape variations based on a candidate gene approach. Overall our study implies that DNA variants in genes essential for craniofacial development contribute with relatively small effect size to the spectrum of normal variation in human facial morphology. This observation has important consequences for future studies aiming to identify more genes involved in the human facial morphology, as well as for potential applications of DNA prediction of facial shape such as in future forensic applications.

  16. Implications of the IQ-CSRC Prospective Study: Time to Revise ICH E14.

    Science.gov (United States)

    Darpo, Borje; Garnett, Christine; Keirns, James; Stockbridge, Norman

    2015-09-01

    Exposure-response (ER) analysis has evolved as an important tool to evaluate the effect of a drug on cardiac repolarization, as reflected in the QTc interval. It has been suggested that careful electrocardiogram (ECG) evaluation in 'first-in-human' studies using ER analysis could replace or serve as an alternative to the E14 'thorough QT' study. This commentary shares and discusses the results of a recently conducted study with the objective to evaluate this approach. Six drugs with a well-characterized QT effect, five of which are known QT prolongers, were evaluated in a study design similar to a conventional single-ascending-dose study. Each drug was given to nine healthy subjects (six for placebo) in two dose levels, which for the positive drugs (ondansetron, quinine, dolasetron, moxifloxacin, and dofetilide) were chosen with the intent to cause 10-12 ms and 15-20 ms QTc prolongation. Replicate 12-lead ECGs were extracted from continuous recordings pre-dose and serially after dosing and paired with drug concentration determinations. The ER criteria for the identification of a QT effect, a statistically significant positive ER slope and an effect above 10 ms, were met with all five positive drugs, and an effect exceeding 10 ms could be excluded at the supratherapeutic dose of the negative drug, levocetirizine. The study results thereby provided evidence to support that careful QT assessment in early phase clinical studies can be used as an alternative to the thorough QT study. Clinical and regulatory implications, as well as limitations of this approach, are discussed in the commentary. PMID:26162419

  17. Genome-wide association study reveals novel quantitative trait Loci associated with resistance to multiple leaf spot diseases of spring wheat.

    Directory of Open Access Journals (Sweden)

    Suraj Gurung

    Full Text Available Accelerated wheat development and deployment of high-yielding, climate resilient, and disease resistant cultivars can contribute to enhanced food security and sustainable intensification. To facilitate gene discovery, we assembled an association mapping panel of 528 spring wheat landraces of diverse geographic origin for a genome-wide association study (GWAS. All accessions were genotyped using an Illumina Infinium 9K wheat single nucleotide polymorphism (SNP chip and 4781 polymorphic SNPs were used for analysis. To identify loci underlying resistance to the major leaf spot diseases and to better understand the genomic patterns, we quantified population structure, allelic diversity, and linkage disequilibrium. Our results showed 32 loci were significantly associated with resistance to the major leaf spot diseases. Further analysis identified QTL effective against major leaf spot diseases of wheat which appeared to be novel and others that were previously identified by association analysis using Diversity Arrays Technology (DArT and bi-parental mapping. In addition, several identified SNPs co-localized with genes that have been implicated in plant disease resistance. Future work could aim to select the putative novel loci and pyramid them in locally adapted wheat cultivars to develop broad-spectrum resistance to multiple leaf spot diseases of wheat via marker-assisted selection (MAS.

  18. Genome-wide association study reveals novel quantitative trait Loci associated with resistance to multiple leaf spot diseases of spring wheat.

    Science.gov (United States)

    Gurung, Suraj; Mamidi, Sujan; Bonman, J Michael; Xiong, Mai; Brown-Guedira, Gina; Adhikari, Tika B

    2014-01-01

    Accelerated wheat development and deployment of high-yielding, climate resilient, and disease resistant cultivars can contribute to enhanced food security and sustainable intensification. To facilitate gene discovery, we assembled an association mapping panel of 528 spring wheat landraces of diverse geographic origin for a genome-wide association study (GWAS). All accessions were genotyped using an Illumina Infinium 9K wheat single nucleotide polymorphism (SNP) chip and 4781 polymorphic SNPs were used for analysis. To identify loci underlying resistance to the major leaf spot diseases and to better understand the genomic patterns, we quantified population structure, allelic diversity, and linkage disequilibrium. Our results showed 32 loci were significantly associated with resistance to the major leaf spot diseases. Further analysis identified QTL effective against major leaf spot diseases of wheat which appeared to be novel and others that were previously identified by association analysis using Diversity Arrays Technology (DArT) and bi-parental mapping. In addition, several identified SNPs co-localized with genes that have been implicated in plant disease resistance. Future work could aim to select the putative novel loci and pyramid them in locally adapted wheat cultivars to develop broad-spectrum resistance to multiple leaf spot diseases of wheat via marker-assisted selection (MAS). PMID:25268502

  19. Confounded by sequencing depth in association studies of rare alleles.

    Science.gov (United States)

    Garner, Chad

    2011-05-01

    Next-generation DNA sequencing technologies are facilitating large-scale association studies of rare genetic variants. The depth of the sequence read coverage is an important experimental variable in the next-generation technologies and it is a major determinant of the quality of genotype calls generated from sequence data. When case and control samples are sequenced separately or in different proportions across batches, they are unlikely to be matched on sequencing read depth and a differential misclassification of genotypes can result, causing confounding and an increased false-positive rate. Data from Pilot Study 3 of the 1000 Genomes project was used to demonstrate that a difference between the mean sequencing read depth of case and control samples can result in false-positive association for rare and uncommon variants, even when the mean coverage depth exceeds 30× in both groups. The degree of the confounding and inflation in the false-positive rate depended on the extent to which the mean depth was different in the case and control groups. A logistic regression model was used to test for association between case-control status and the cumulative number of alleles in a collapsed set of rare and uncommon variants. Including each individual's mean sequence read depth across the variant sites in the logistic regression model nearly eliminated the confounding effect and the inflated false-positive rate. Furthermore, accounting for the potential error by modeling the probability of the heterozygote genotype calls in the regression analysis had a relatively minor but beneficial effect on the statistical results. PMID:21328616

  20. Genome-wide association study identifies chromosome 10q24.32 variants associated with arsenic metabolism and toxicity phenotypes in Bangladesh.

    Directory of Open Access Journals (Sweden)

    Brandon L Pierce

    Full Text Available Arsenic contamination of drinking water is a major public health issue in many countries, increasing risk for a wide array of diseases, including cancer. There is inter-individual variation in arsenic metabolism efficiency and susceptibility to arsenic toxicity; however, the basis of this variation is not well understood. Here, we have performed the first genome-wide association study (GWAS of arsenic-related metabolism and toxicity phenotypes to improve our understanding of the mechanisms by which arsenic affects health. Using data on urinary arsenic metabolite concentrations and approximately 300,000 genome-wide single nucleotide polymorphisms (SNPs for 1,313 arsenic-exposed Bangladeshi individuals, we identified genome-wide significant association signals (P<5×10(-8 for percentages of both monomethylarsonic acid (MMA and dimethylarsinic acid (DMA near the AS3MT gene (arsenite methyltransferase; 10q24.32, with five genetic variants showing independent associations. In a follow-up analysis of 1,085 individuals with arsenic-induced premalignant skin lesions (the classical sign of arsenic toxicity and 1,794 controls, we show that one of these five variants (rs9527 is also associated with skin lesion risk (P = 0.0005. Using a subset of individuals with prospectively measured arsenic (n = 769, we show that rs9527 interacts with arsenic to influence incident skin lesion risk (P = 0.01. Expression quantitative trait locus (eQTL analyses of genome-wide expression data from 950 individual's lymphocyte RNA suggest that several of our lead SNPs represent cis-eQTLs for AS3MT (P = 10(-12 and neighboring gene C10orf32 (P = 10(-44, which are involved in C10orf32-AS3MT read-through transcription. This is the largest and most comprehensive genomic investigation of arsenic metabolism and toxicity to date, the only GWAS of any arsenic-related trait, and the first study to implicate 10q24.32 variants in both arsenic metabolism and arsenical

  1. Suprarenal solitary fibrous tumor associated with a NF1 gene mutation mimicking a kidney neoplasm: implications for surgical management.

    Science.gov (United States)

    Conzo, Giovanni; Tartaglia, Ernesto; Gambardella, Claudio; Mauriello, Claudio; Esposito, Daniela; Mascolo, Massimo; Russo, Daniela; Stornaiuolo, Gianfranca; Gaeta, Giovan Battista; Santini, Luigi

    2014-01-01

    Solitary fibrous tumor (SFT) is a rare spindle cell neoplasm, usually occurring in the pleura. Pararenal SFT, mimicking an adrenal gland or renal tumor, as here described, is extremely rare. We report a case of a right suprarenal SFT, incidentally discovered by abdominal ultrasound in a 54-year-old woman carrying a point neurofibromatosis 1 (NF1) gene mutation. Preoperative diagnostic work-up was ineffective in evaluating its origin, and an open radical right nephrectomy was therefore undertaken. Immunohistochemical assay showed a positivity for CD34, CD99 and Bcl-2, so suggesting a diagnosis of SFT. According to our knowledge, the association between this type of tumor and NF1 gene mutation has never been described. In cases of pararenal tumors, a more detailed preoperative diagnosis could be useful to better plan the extension of resection, allowing, in selected cases, nephron-sparing surgery. More studies are needed to better analyze the relationship between NF1 gene mutation and SFT. PMID:24708790

  2. Bipolar disorder and the pseudoautosomal region: An association study

    Energy Technology Data Exchange (ETDEWEB)

    Parsian, A.; Todd, R.D. [Washington Univ. School of Medicine, St. Louis, MO (United States)

    1994-03-15

    From family, adoption, and twin studies it is clear that genetic factors play an important role in the etiology of bipolar disorder (McGuffin and Katz: The Biology of Depression, Gaskell, London, 1986). Recently Yoneda et al. reported an association between an allele (A4) of a VNTR marker (DXYS20) for the pseudoautosomal region and bipolar disorder in a Japanese population. In order to test for this association in a Caucasian population, we have typed a sample of 52 subjects with bipolar disorder and 61 normal controls. The bipolar subjects are probands of multiple incidence families. The normal controls are an epidemiologically ascertained sample of middle-aged, unrelated individuals. The two groups were matched for sex and ethnic background. There were no significant differences in the allele or genotype frequencies of DXYS20 between the two groups. In particular, there was no significant difference in the frequency of the A4 allele in normal controls and bipolar patients (0.377 vs. 0.317, respectively). The prevalence of the A4 allele in bipolar patients and normal controls was 0.567 and 0.622, respectively. We were not able to replicate the results of the 1992 Yoneda et al. study. 15 refs., 2 tabs.

  3. An evolutionary framework for association testing in resequencing studies.

    Directory of Open Access Journals (Sweden)

    C Ryan King

    2010-11-01

    Full Text Available Sequencing technologies are becoming cheap enough to apply to large numbers of study participants and promise to provide new insights into human phenotypes by bringing to light rare and previously unknown genetic variants. We develop a new framework for the analysis of sequence data that incorporates all of the major features of previously proposed approaches, including those focused on allele counts and allele burden, but is both more general and more powerful. We harness population genetic theory to provide prior information on effect sizes and to create a pooling strategy for information from rare variants. Our method, EMMPAT (Evolutionary Mixed Model for Pooled Association Testing, generates a single test per gene (substantially reducing multiple testing concerns, facilitates graphical summaries, and improves the interpretation of results by allowing calculation of attributable variance. Simulations show that, relative to previously used approaches, our method increases the power to detect genes that affect phenotype when natural selection has kept alleles with large effect sizes rare. We demonstrate our approach on a population-based re-sequencing study of association between serum triglycerides and variation in ANGPTL4.

  4. Low expression of leptin and its association with breast cancer: A transcriptomic study.

    Science.gov (United States)

    Karim, Sajjad; Merdad, Adnan; Schulten, Hans-Juergen; Jayapal, Manikandan; Dallol, Ashraf; Buhmeida, Abdelbaset; Al-Thubaity, Fatima; Mirza, Zeenat; Gari, Mamdooh A; Chaudhary, Adeel G; Abuzenadah, Adel M; Al-Qahtani, Mohammed H

    2016-07-01

    The incidence of breast cancer is alarmingly increasing worldwide and also among Saudi women. Obesity is linked with an increased cancer risk and studies have also revealed that leptin may be involved in breast tumorigenesis particularly among obese women. Numerous transcriptomic studies have been carried out worldwide; however, molecular studies among breast cancer patients of diverse ethnic groups from the Arabian Peninsula are scarce. In the present study, whole transcriptome analysis of 45 surgically resected breast tumors from Saudi Arabian female patients was carried out. Expression data were analyzed, and molecular networks and canonical pathways were identified. We identified 1,159 differentially expressed genes using p-value with a false discovery rate 2 as a cut-off. Using ingenuity pathway analysis tool, we identified many canonical pathways that were implicated in breast cancer for the first time. Notably, along with other lipid metabolism molecules, leptin (LEP)was one of the most downregulated genes (fold cut-off, -7.03) with significant differences between the breast cancer and the control groups (pcancer from a Saudi female population revealed downregulation of LEP. Molecular pathway analysis demonstrated the role of LEP and other associated molecules of the lipid metabolism pathway. Involvement of leptin and lipid metabolism in breast cancer was highlighted. The majority of cases presented were of late stage, stressing the need to educate individuals concerning early diagnostic testing and the life-style risk factors for breast cancer such as unhealthy diet and obesity. PMID:27177292

  5. Strontium isotopes in otoliths of a non-migratory fish (slimy sculpin): Implications for provenance studies

    Science.gov (United States)

    Brennan, Sean R.; Fernandez, Diego P.; Zimmerman, Christian E.; Cerling, Thure E.; Brown, Randy J.; Wooller, Matthew J.

    2015-01-01

    Heterogeneity in 87Sr/86Sr ratios of river-dissolved strontium (Sr) across geologically diverse environments provides a useful tool for investigating provenance, connectivity and movement patterns of various organisms and materials. Evaluation of site-specific 87Sr/86Sr temporal variability throughout study regions is a prerequisite for provenance research, but the dynamics driving temporal variability are generally system-dependent and not accurately predictable. We used the time-keeping properties of otoliths from non-migratory slimy sculpin (Cottus cognatus) to evaluate multi-scale 87Sr/86Sr temporal variability of river waters throughout the Nushagak River, a large (34,700 km2) remote watershed in Alaska, USA. Slimy sculpin otoliths incorporated site-specific temporal variation at sub-annual resolution and were able to record on the order of 0.0001 changes in the 87Sr/86Sr ratio. 87Sr/86Sr profiles of slimy sculpin collected in tributaries and main-stem channels of the upper watershed indicated that these regions were temporally stable, whereas the Lower Nushagak River exhibited some spatio-temporal variability. This study illustrates how the behavioral ecology of a non-migratory organism can be used to evaluate sub-annual 87Sr/86Sr temporal variability and has broad implications for provenance studies employing this tracer.

  6. Counseling a Student Presenting Borderline Personality Disorder in the Small College Context: Case Study and Implications

    Science.gov (United States)

    Draper, Matthew R.; Faulkner, Ginger E.

    2009-01-01

    This case study examines the dynamics and challenges associated with counseling a client experiencing borderline personality disorder in the small college institutional context. The work of counseling centers at small private institutions has been relatively unexplored in the extant college counseling literature. To help fill this gap, the current…

  7. Sociocultural factors associated with cigarette smoking among women in Brazilian worksites: a qualitative study.

    Science.gov (United States)

    Scarinci, Isabel C; Silveira, Andréa F; dos Santos, Daniele Figueiredo; Beech, Bettina M

    2007-06-01

    This study examined the contextual factors associated with smoking initiation and cessation among women in Brazilian worksites (Curitiba, Paraná, Brazil). A total of 22 focus groups were conducted among 108 women in private and public worksites. The most frequently endorsed negative factors that contributed to smoking initiation included exposure to smoking-prompting behaviors through family members, peer pressure, media and easy access/low cost of cigarettes. Positive factors that served as protective mechanisms against initiation included smoking-related health effects and strong influence from parents and family members. The most salient negative factors associated with smoking cessation included stress/anxiety-relieving benefits, weight control, access/low cost of cigarettes, being around smokers and risk-exempting beliefs. Positive factors included smoking restrictions at home and workplace and concerns about appearance. Current and former smokers reported that they had never received any assistance from their physicians to quit smoking, nor did they rely on smoking cessation programs or aids or believe in their effectiveness. There are specific contextual factors that contribute to smoking initiation/cessation among women in Brazilian worksites which have important clinical, research and policy implications. PMID:17491118

  8. A cohort pilot study on HIV-associated neuropsychological impairments in haemophilia patients

    Directory of Open Access Journals (Sweden)

    Silvia Riva

    2015-06-01

    Full Text Available Despite advances in the management of HIV infection with the introduction of combination antiretroviral therapy (cART, it is well known that HIV can directly infect the central nervous system (CNS and, as a result of such infection, neuropsychological impairments can be manifested. In this study we tried to determine whether seropositivity was associated with a poor neuropsychological performance in patients with hemophilia and HIV. Such a cohort of patients is very often underrepresented and understudied in the HIV literature. To amend such a gap, we carried out an extensive neuropsychological evaluation on these patients, and compared their performance with that of a group of seronegative hemophilia patients. The results revealed that HIV infection in HIV seropositive (HIV+ hemophilia patients was associated with deficits in attention, short-term memory, abstraction and visual recognition. Such results are still preliminary and explorative due to the small cohort of patients enrolled. However, the results do seem to have some important implications for day-to-day functioning, as the level of impairment detected may cause difficulties in completing common everyday tasks such as maintaining adherence to complex medication regimens, or maintaining social life activities. Continued research into the mechanisms related to HIV and neurocognitive dysfunction may provide targets for interventions that could have meaningful consequences in the real world for HIV hemophilia patients.

  9. An association study between hypoxia inducible factor-1alpha (HIF-1α polymorphisms and osteonecrosis.

    Directory of Open Access Journals (Sweden)

    Georgia Chachami

    Full Text Available Bone hypoxia resulting from impaired blood flow is the final pathway for the development of osteonecrosis (ON. The aim of this study was to evaluate if HIF-1α, the major transcription factor triggered by hypoxia, is genetically implicated in susceptibility to ON. For this we analyzed frequencies of three known HIF-1α polymorphisms: one in exon 2 (C111A and two in exon 12 (C1772T and G1790A and their association with ON in a Greek population. Genotype analysis was performed using PCR-RFLP and rare alleles were further confirmed with sequencing. We found that genotype and allele frequency of C1772T and G1790A SNP of HIF-1α (SNPs found in our cohort were not significantly different in ON patients compared to control patients. Furthermore these SNPs could not be associated with the different subgroups of ON. At the protein level we observed that the corresponding mutations (P582S and A588T, respectively are not significant for protein function since the activity, expression and localization of the mutant proteins is practically indistinguishable from wt in HEK293 and Saos-2 cells. These results suggest that these missense mutations in the HIF-1α gene are not important for the risk of developing ON.

  10. Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.

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    Ayşe Demirkan

    Full Text Available Phospho- and sphingolipids are crucial cellular and intracellular compounds. These lipids are required for active transport, a number of enzymatic processes, membrane formation, and cell signalling. Disruption of their metabolism leads to several diseases, with diverse neurological, psychiatric, and metabolic consequences. A large number of phospholipid and sphingolipid species can be detected and measured in human plasma. We conducted a meta-analysis of five European family-based genome-wide association studies (N = 4034 on plasma levels of 24 sphingomyelins (SPM, 9 ceramides (CER, 57 phosphatidylcholines (PC, 20 lysophosphatidylcholines (LPC, 27 phosphatidylethanolamines (PE, and 16 PE-based plasmalogens (PLPE, as well as their proportions in each major class. This effort yielded 25 genome-wide significant loci for phospholipids (smallest P-value = 9.88×10(-204 and 10 loci for sphingolipids (smallest P-value = 3.10×10(-57. After a correction for multiple comparisons (P-value<2.2×10(-9, we observed four novel loci significantly associated with phospholipids (PAQR9, AGPAT1, PKD2L1, PDXDC1 and two with sphingolipids (PLD2 and APOE explaining up to 3.1% of the variance. Further analysis of the top findings with respect to within class molar proportions uncovered three additional loci for phospholipids (PNLIPRP2, PCDH20, and ABDH3 suggesting their involvement in either fatty acid elongation/saturation processes or fatty acid specific turnover mechanisms. Among those, 14 loci (KCNH7, AGPAT1, PNLIPRP2, SYT9, FADS1-2-3, DLG2, APOA1, ELOVL2, CDK17, LIPC, PDXDC1, PLD2, LASS4, and APOE mapped into the glycerophospholipid and 12 loci (ILKAP, ITGA9, AGPAT1, FADS1-2-3, APOA1, PCDH20, LIPC, PDXDC1, SGPP1, APOE, LASS4, and PLD2 to the sphingolipid pathways. In large meta-analyses, associations between FADS1-2-3 and carotid intima media thickness, AGPAT1 and type 2 diabetes, and APOA1 and coronary artery disease were observed. In conclusion, our

  11. Functional implications of hippocampal degeneration in early Alzheimer's disease: a combined DTI and PET study

    Energy Technology Data Exchange (ETDEWEB)

    Yakushev, Igor; Mueller, Matthias J.; Schermuly, Ingrid; Fellgiebel, Andreas [University Medical Center Mainz, Department of Psychiatry and Psychotherapy, Mainz (Germany); Schreckenberger, Matthias [University Medical Center Mainz, Department of Nuclear Medicine, Mainz (Germany); Cumming, Paul [University of Munich, Department of Nuclear Medicine, Munich (Germany); Stoeter, Peter [University Medical Center Mainz, Institute of Neuroradiology, Mainz (Germany); Gerhard, Alex [University Medical Center Mainz, Department of Psychiatry and Psychotherapy, Mainz (Germany); University of Manchester, Wolfson Molecular Imaging Centre, Manchester (United Kingdom)

    2011-12-15

    Hypometabolism of the posterior cingulate cortex (PCC) in early Alzheimer's disease (AD) is thought to arise in part due to AD-specific neuronal damage to the hippocampal formation. Here, we explored the association between microstructural alterations within the hippocampus and whole-brain glucose metabolism in subjects with AD, also in relation to episodic memory impairment. Twenty patients with early AD (Mini-Mental State Examination 25.7 {+-} 1.7) were studied with [{sup 18}F]fluorodeoxyglucose (FDG) positron emission tomography and diffusion tensor imaging. Episodic memory performance was assessed using the free delayed verbal recall task (DVR). Voxel-wise relative FDG uptake was correlated to diffusivity indices of the hippocampus, followed by extraction of FDG uptake values from significant clusters. Linear regression analysis was performed to test for unique contributions of diffusivity and metabolic indices in the prediction of memory function. Diffusivity in the left anterior hippocampus negatively correlated with FDG uptake primarily in the left anterior hippocampus, parahippocampal gyrus and the PCC (p< 0.005). The same correlation pattern was found for right hippocampal diffusivity (p< 0.05). In linear regression analysis, left anterior hippocampal diffusivity and FDG uptake from the PCC cluster were the only significant predictors for performance on DVR, together explaining 60.6% of the variance. We found an inverse association between anterior hippocampal diffusivity and PCC glucose metabolism, which was in turn strongly related to episodic memory performance in subjects with early AD. These findings support the diaschisis hypothesis of AD and implicate a dysfunction of structures along the hippocampal output pathways as a significant contributor to the genesis of episodic memory impairment. (orig.)

  12. A Case Study with an Identified Bully: Policy and Practice Implications

    Directory of Open Access Journals (Sweden)

    Huddleston, Lillie

    2011-07-01

    Full Text Available Objective: Bullying is a serious public health problem that may include verbal or physical injury as well as social isolation or exclusion. As a result, research is needed to establish a database for policies and interventions designed to prevent bullying and its negative effects. This paper presented a case study that contributed to the literature by describing an intervention for bullies that has implications for research, practice and related policies regarding bullying.Methods: An individualized intervention for an identified bully was implemented using the Participatory Culture-Specific Intervention Model (PCSIM; Nastasi, Moore, & Varjas, 2004 with a seventh-grade middle school student. Ecological and culture-specific perspectives were used to develop and implement the intervention that included psychoeducational sessions with the student and consultation with the parent and school personnel. A mixed methods intervention design was used with the following informants: the target student, the mother of the student, a teacher and the school counselor. Qualitative data included semi-structured interviews with the parent, teacher and student, narrative classroom observations and evaluation/feedback forms filled out by the student and interventionist. Quantitative data included the following quantitative surveys (i.e., Child Posttraumatic Stress Reaction Index [CPTS-RI] and the Behavior Assessment Scale for Children, 2nd Edition. Both qualitative and quantitative data were used to evaluate the acceptability, integrity and efficacy of this intervention.Results: The process of intervention design, implementation and evaluation are described through an illustrative case study. Qualitative and quantitative findings indicated a decrease in internalizing, externalizing and bullying behaviors as reported by the teacher and the mother, and a high degree of acceptability and treatment integrity as reported by multiple stakeholders.Conclusion: This case

  13. Serving of free school lunch to secondary-school pupils - a pilot study with health implications

    OpenAIRE

    Ask, Anne Selvik; Hernes, Sigrunn; Aarek, Ingebjørg; Vik, Frøydis N; Brodahl, Cornelia; Haugen, Margaretha

    2010-01-01

    Objective: To study whether service of a free school lunch has an impact on weight development and food intake among pupils at a lower secondary school, and to assess the association between self-perceived school behaviour and food intake. Design: A controlled intervention study involving service of a free healthy school lunch to 9th grade pupils took place over 4 months, from January to May 2007. Weight and height were measured before and after the intervention. The pupils ...

  14. Colonial Hangovers: Social Studies Curriculum Dilemmas for Zimbabwe--Implications for Indiana Social Studies Teachers.

    Science.gov (United States)

    Nziramasanga, Caiphas T.

    This paper briefly examines the historical background to political independence in African nations, highlighting the control of the colonial masters on those nations. The "hangovers" describes how early colonial control has had serious influence on the development of social studies curriculum in Zimbabwe. The paper concludes by narrating the…

  15. A review of adaptive change in musculoskeletal impedance during space flight and associated implications for postflight head movement control

    Science.gov (United States)

    McDonald, P. V.; Bloomberg, J. J.; Layne, C. S.

    1997-01-01

    We present a review of converging sources of evidence which suggest that the differences between loading histories experienced in 1-g and weightlessness are sufficient to stimulate adaptation in mechanical impedance of the musculoskeletal system. As a consequence of this adaptive change we argue that we should observe changes in the ability to attenuate force transmission through the musculoskeletal system both during and after space flight. By focusing attention on the relation between human sensorimotor activity and support surfaces, the importance of controlling mechanical energy flow through the musculoskeletal system is demonstrated. The implications of such control are discussed in light of visual-vestibular function in the specific context of head and gaze control during postflight locomotion. Evidence from locomotory biomechanics, visual-vestibular function, ergonomic evaluations of human vibration, and specific investigations of locomotion and head and gaze control after space flight, is considered.

  16. Clinicians' perspectives of health related quality of life (HRQoL) implications of amblyopia: a qualitative study

    OpenAIRE

    Carlton, J.

    2010-01-01

    Aims or Purpose: The health related quality of life (HRQoL) implications of amblyopia and/or its treatment have been reported. However the clinician’s perspective has not previously been explored. The purpose of this study was to explore the HRQoL implications of amblyopia and/or its treatment from a clinician’s perspective. Methods: Three focus group sessions were conducted with practising orthoptists. The transcripts were analysed using “Framework” analysis to identify HRQoL ...

  17. Design considerations for genetic linkage and association studies.

    Science.gov (United States)

    Nsengimana, Jérémie; Bishop, D Timothy

    2012-01-01

    This chapter describes the main issues that genetic epidemiologists usually consider in the design of linkage and association studies. For linkage, we briefly consider the situation of rare, highly penetrant alleles showing a disease pattern consistent with Mendelian inheritance investigated through parametric methods in large pedigrees or with autozygosity mapping in inbred families, and we then turn our focus to the most common design, affected sibling pairs, of more relevance for common, complex diseases. Theoretical and more practical power and sample size calculations are provided as a function of the strength of the genetic effect being investigated. We also discuss the impact of other determinants of statistical power such as disease heterogeneity, pedigree, and genotyping errors, as well as the effect of the type and density of genetic markers. Linkage studies should be as large as possible to have sufficient power in relation to the expected genetic effect size. Segregation analysis, a formal statistical technique to describe the underlying genetic susceptibility, may assist in the estimation of the relevant parameters to apply, for instance. However, segregation analyses estimate the total genetic component rather than a single-locus effect. Locus heterogeneity should be considered when power is estimated and at the analysis stage, i.e. assuming smaller locus effect than the total the genetic component from segregation studies. Disease heterogeneity should be minimised by considering subtypes if they are well defined or by otherwise collecting known sources of heterogeneity and adjusting for them as covariates; the power will depend upon the relationship between the disease subtype and the underlying genotypes. Ultimately, identifying susceptibility alleles of modest effects (e.g. RR≤1.5) requires a number of families that seem unfeasible in a single study. Meta-analysis and data pooling between different research groups can provide a sizeable study

  18. Comorbidities Associated with Obstructive Sleep Apnea: a Retrospective Study

    Science.gov (United States)

    Pinto, José Antonio; Ribeiro, Davi Knoll; Cavallini, Andre Freitas da Silva; Duarte, Caue; Freitas, Gabriel Santos

    2016-01-01

    Introduction Obstructive sleep apnea (OSA) is characterized by partial or complete recurrent upper airway obstruction during sleep. OSA brings many adverse consequences, such as hypertension, obesity, diabetes mellitus, cardiac and encephalic alterations, behavioral, among others, resulting in a significant source of public health care by generating a high financial and social impact. The importance of this assessment proves to be useful, because the incidence of patients with comorbidities associated with AOS has been increasing consistently and presents significant influence in natural disease history. Objective The objective of this study is to assess major comorbidities associated with obstructive sleep apnea (OSA) and prevalence in a group of patients diagnosed clinically and polysomnographically with OSA. Methods This is a retrospective study of 100 charts from patients previously diagnosed with OSA in our service between October 2010 and January 2013. Results We evaluated 100 patients with OSA (84 men and 16 women) with a mean age of 50.05 years (range 19–75 years). The prevalence of comorbidities were hypertension (39%), obesity (34%), depression (19%), gastroesophageal reflux disease (GERD) (18%), diabetes mellitus (15%), hypercholesterolemia (10%), asthma (4%), and no comorbidities (33%). Comorbidities occurred in 56.2% patients diagnosed with mild OSA, 67.6% with moderate OSA, and 70% of patients with severe OSA. Conclusion According to the current literature data and the values obtained in our paper, we can correlate through expressive values obesity with OSA and their apnea hypopnea index (AHI) values. However, despite significant prevalence of OSA with other comorbidities, our study could not render expressive significance values able to justify their correlations. PMID:27096019

  19. Association Study of Serine Racemase Gene with Methamphetamine Psychosis

    Science.gov (United States)

    Yokobayashi, E; Ujike, H; Kotaka, T; Okahisa, Y; Takaki, M; Kodama, M; Inada, T; Uchimura, N; Yamada, M; Iwata, N; Iyo, M; Sora, I; Ozaki, N; Kuroda, S

    2011-01-01

    Experimental studies have demonstrated that not only dopaminergic signaling but also glutamatergic/NMDA receptor signaling play indispensable roles in the development of methamphetamine psychosis. Our recent genetic studies provided evidence that genetic variants of glutamate-related genes such as DTNBP1, GLYT1, and G72, which are involved in glutamate release and regulation of co-agonists for NMDA receptors, conferred susceptibility to methamphetamine psychosis. Serine racemase converts l-serine to d-serine, which is an endogenous co-agonist for NMDA receptors. Three single nucleotide polymorphisms (SNPs) in the promoter region of the serine racemase gene (SRR), rs224770, rs3760229, and rs408067, were proven to affect the transcription activity of SRR. Therefore, we examined these SNPs in 225 patients with methamphetamine psychosis and 291 age- and sex-matched controls. There was no significant association between methamphetamine psychosis and any SNP examined or between the disorder and haplotypes comprising the three SNPs. However, rs408067 was significantly associated with the prognosis for methamphetamine psychosis and multi-substance abuse status. The patients with C-positive genotypes (CC or CG) of rs408067 showed better prognosis of psychosis after therapy and less abuse of multiple substances than the patients with GG genotypes. Because the C allele of rs408067 reduces the expression of SRR, a lower d-serine level or reduced NMDA receptor activation may affect the prognosis of methamphetamine psychosis and multiple substance abuse. Our sample size is, however, not large enough to eliminate the possibility of a type I error, our findings must be confirmed by replicate studies with larger samples. PMID:21886585

  20. Comorbidities Associated with Obstructive Sleep Apnea: a Retrospective Study.

    Science.gov (United States)

    Pinto, José Antonio; Ribeiro, Davi Knoll; Cavallini, Andre Freitas da Silva; Duarte, Caue; Freitas, Gabriel Santos

    2016-04-01

    Introduction Obstructive sleep apnea (OSA) is characterized by partial or complete recurrent upper airway obstruction during sleep. OSA brings many adverse consequences, such as hypertension, obesity, diabetes mellitus, cardiac and encephalic alterations, behavioral, among others, resulting in a significant source of public health care by generating a high financial and social impact. The importance of this assessment proves to be useful, because the incidence of patients with comorbidities associated with AOS has been increasing consistently and presents significant influence in natural disease history. Objective The objective of this study is to assess major comorbidities associated with obstructive sleep apnea (OSA) and prevalence in a group of patients diagnosed clinically and polysomnographically with OSA. Methods This is a retrospective study of 100 charts from patients previously diagnosed with OSA in our service between October 2010 and January 2013. Results We evaluated 100 patients with OSA (84 men and 16 women) with a mean age of 50.05 years (range 19-75 years). The prevalence of comorbidities were hypertension (39%), obesity (34%), depression (19%), gastroesophageal reflux disease (GERD) (18%), diabetes mellitus (15%), hypercholesterolemia (10%), asthma (4%), and no comorbidities (33%). Comorbidities occurred in 56.2% patients diagnosed with mild OSA, 67.6% with moderate OSA, and 70% of patients with severe OSA. Conclusion According to the current literature data and the values obtained in our paper, we can correlate through expressive values obesity with OSA and their apnea hypopnea index (AHI) values. However, despite significant prevalence of OSA with other comorbidities, our study could not render expressive significance values able to justify their correlations. PMID:27096019

  1. A musculoskeletal model of low grade connective tissue inflammation in patients with thyroid associated ophthalmopathy (TAO: the WOMED concept of lateral tension and its general implications in disease

    Directory of Open Access Journals (Sweden)

    Moncayo Helga

    2007-02-01

    Full Text Available Abstract Background Low level connective tissue inflammation has been proposed to play a role in thyroid associated ophthalmopathy (TAO. The aim of this study was to investigate this postulate by a musculoskeletal approach together with biochemical parameters. Methods 13 patients with TAO and 16 controls were examined. Erythrocyte levels of Zn, Cu, Ca2+, Mg, and Fe were determined. The musculoskeletal evaluation included observational data on body posture with emphasis on the orbit-head region. The angular foot position in the frontal plane was quantified following gait observation. The axial orientation of the legs and feet was evaluated in an unloaded supine position. Functional propioceptive tests based on stretch stimuli were done by using foot inversion and foot rotation. Results Alterations in the control group included neck tilt in 3 cases, asymmetrical foot angle during gait in 2, and a reaction to foot inversion in 5 cases. TAO patients presented facial asymmetry with displaced eye fissure inclination (mean 9.1° as well as tilted head-on-neck position (mean 5.7°. A further asymmetry feature was external rotation of the legs and feet (mean 27°. Both foot inversion as well as foot rotation induced a condition of neuromuscular deficit. This condition could be regulated by gentle acupressure either on the lateral abdomen or the lateral ankle at the acupuncture points gall bladder 26 or bladder 62, respectively. In 5 patients, foot rotation produced a phenomenon of moving toes in the contra lateral foot. In addition foot rotation was accompanied by an audible tendon snapping. Lower erythrocyte Zn levels and altered correlations between Ca2+, Mg, and Fe were found in TAO. Conclusion This whole body observational study has revealed axial deviations and body asymmetry as well as the phenomenon of moving toes in TAO. The most common finding was an arch-like displacement of the body, i.e. eccentric position, with foot inversion and head tilt

  2. A study of starch gelatinisation behaviour in hydrothermally-processed plant food tissues and implications for in vitro digestibility

    OpenAIRE

    Edwards, Cathrina H; Warren, Frederick J; Campbell, Grant M.; Gaisford, Simon; Royall, Paul G.; Butterworth, Peter J; Ellis, Peter R

    2015-01-01

    The aim of this study was to investigate the role of the plant food matrix in influencing the extent of starch gelatinisation during hydrothermal processing, and its implications for starch digestibility. Differential scanning calorimetry (DSC) was used to provide a detailed examination of the gelatinisation behaviour of five distinct size fractions (diameters

  3. The implications of embodiment for behavior and cognition: animal and robotic case studies

    CERN Document Server

    Hoffmann, Matej

    2012-01-01

    In this paper, we will argue that if we want to understand the function of the brain (or the control in the case of robots), we must understand how the brain is embedded into the physical system, and how the organism interacts with the real world. While embodiment has often been used in its trivial meaning, i.e. 'intelligence requires a body', the concept has deeper and more important implications, concerned with the relation between physical and information (neural, control) processes. A number of case studies are presented to illustrate the concept. These involve animals and robots and are concentrated around locomotion, grasping, and visual perception. A theoretical scheme that can be used to embed the diverse case studies will be presented. Finally, we will establish a link between the low-level sensory-motor processes and cognition. We will present an embodied view on categorization, and propose the concepts of 'body schema' and 'forward models' as a natural extension of the embodied approach toward firs...

  4. An Empirical Bayes Mixture Model for Effect Size Distributions in Genome-Wide Association Studies.

    Science.gov (United States)

    Thompson, Wesley K; Wang, Yunpeng; Schork, Andrew J; Witoelar, Aree; Zuber, Verena; Xu, Shujing; Werge, Thomas; Holland, Dominic; Andreassen, Ole A; Dale, Anders M

    2015-12-01

    Characterizing the distribution of effects from genome-wide genotyping data is crucial for understanding important aspects of the genetic architecture of complex traits, such as number or proportion of non-null loci, average proportion of phenotypic variance explained per non-null effect, power for discovery, and polygenic risk prediction. To this end, previous work has used effect-size models based on various distributions, including the normal and normal mixture distributions, among others. In this paper we propose a scale mixture of two normals model for effect size distributions of genome-wide association study (GWAS) test statistics. Test statistics corresponding to null associations are modeled as random draws from a normal distribution with zero mean; test statistics corresponding to non-null associations are also modeled as normal with zero mean, but with larger variance. The model is fit via minimizing discrepancies between the parametric mixture model and resampling-based nonparametric estimates of replication effect sizes and variances. We describe in detail the implications of this model for estimation of the non-null proportion, the probability of replication in de novo samples, the local false discovery rate, and power for discovery of a specified proportion of phenotypic variance explained from additive effects of loci surpassing a given significance threshold. We also examine the crucial issue of the impact of linkage disequilibrium (LD) on effect sizes and parameter estimates, both analytically and in simulations. We apply this approach to meta-analysis test statistics from two large GWAS, one for Crohn's disease (CD) and the other for schizophrenia (SZ). A scale mixture of two normals distribution provides an excellent fit to the SZ nonparametric replication effect size estimates. While capturing the general behavior of the data, this mixture model underestimates the tails of the CD effect size distribution. We discuss the implications of

  5. Comorbid Problems in ADHD : Degree of Association, Shared Endophenotypes, and Formation of Distinct Subtypes. Implications for a Future DSM

    NARCIS (Netherlands)

    Rommelse, Nanda N. J.; Altink, Marieke E.; Fliers, Ellen A.; Martin, Neilson C.; Buschgens, Cathelijne J. M.; Hartman, Catharina A.; Buitelaar, Jan K.; Faraone, Stephen V.; Sergeant, Joseph A.; Oosterlaan, Jaap

    2009-01-01

    We aimed to assess which comorbid problems (oppositional defiant behaviors, anxiety, autistic traits, motor coordination problems, and reading problems) were most associated with Attention-Deficit/Hyperactivity Disorder (ADHD); to determine whether these comorbid problems shared executive and motor

  6. Interactive Effects of Cocaine on HIV Infection: Implication in HIV-Associated Neurocognitive Disorder and NeuroAIDS

    Directory of Open Access Journals (Sweden)

    Santosh eDahal

    2015-09-01

    Full Text Available Substantial epidemiological studies suggest that not only, being one of the reasons for the transmission of the human immunodeficiency virus (HIV, but drug abuse also serves its role in determining the disease progression and severity among the HIV infected population. This article focuses on the drug cocaine, and its role in facilitating entry of HIV into the CNS and mechanisms of development of neurologic complications in infected individuals. Cocaine is a powerfully addictive central nervous system stimulating drug, which increases the level of neurotransmitter dopamine in the brain, by blocking the dopamine transporters (DAT which is critical for dopamine homeostasis and neurocognitive function. Tat protein of HIV acts as an allosteric modulator of DAT, where as cocaine acts as reuptake inhibitor. When macrophages in the CNS are exposed to dopamine, their number increases. These macrophages release inflammatory mediators and neurotoxins, causing chronic neuroinflammation. Cocaine abuse during HIV infection enhances the production of platelet monocyte complexes (PMCs, which may cross transendothelial barrier, and result in HIV-associated neurocognitive disorder (HAND. HAND is characterized by neuroinflammation, including astrogliosis, multinucleated giant cells, and neuronal apoptosis that is linked to progressive virus infection and immune deterioration. Cocaine and viral proteins are capable of eliciting signaling transduction pathways in neurons, involving in mitochondrial membrane potential loss, oxidative stress, activation of JNK, p38, and ERK/MAPK pathways, and results in downstream activation of NF-κB that leads to HAND. Tat-induced inflammation provokes permeability of the Blood Brain Barrier (BBB in the platelet dependent manner, which can potentially be the reason for progression to HAND during HIV infection. A better understanding on the role of cocaine in HIV infection can give a clue in developing novel therapeutic strategies

  7. Interactive effects of cocaine on HIV infection: implication in HIV-associated neurocognitive disorder and neuroAIDS.

    Science.gov (United States)

    Dahal, Santosh; Chitti, Sai V P; Nair, Madhavan P N; Saxena, Shailendra K

    2015-01-01

    Substantial epidemiological studies suggest that not only, being one of the reasons for the transmission of the human immunodeficiency virus (HIV), but drug abuse also serves its role in determining the disease progression and severity among the HIV infected population. This article focuses on the drug cocaine, and its role in facilitating entry of HIV into the CNS and mechanisms of development of neurologic complications in infected individuals. Cocaine is a powerfully addictive central nervous system stimulating drug, which increases the level of neurotransmitter dopamine (DA) in the brain, by blocking the dopamine transporters (DAT) which is critical for DA homeostasis and neurocognitive function. Tat protein of HIV acts as an allosteric modulator of DAT, where as cocaine acts as reuptake inhibitor. When macrophages in the CNS are exposed to DA, their number increases. These macrophages release inflammatory mediators and neurotoxins, causing chronic neuroinflammation. Cocaine abuse during HIV infection enhances the production of platelet monocyte complexes (PMCs), which may cross transendothelial barrier, and result in HIV-associated neurocognitive disorder (HAND). HAND is characterized by neuroinflammation, including astrogliosis, multinucleated giant cells, and neuronal apoptosis that is linked to progressive virus infection and immune deterioration. Cocaine and viral proteins are capable of eliciting signaling transduction pathways in neurons, involving in mitochondrial membrane potential loss, oxidative stress, activation of JNK, p38, and ERK/MAPK pathways, and results in downstream activation of NF-κB that leads to HAND. Tat-induced inflammation provokes permeability of the blood brain barrier (BBB) in the platelet dependent manner, which can potentially be the reason for progression to HAND during HIV infection. A better understanding on the role of cocaine in HIV infection can give a clue in developing novel therapeutic strategies against HIV-1 infection

  8. The cannabinoid receptor 1 associates with NMDA receptors to produce glutamatergic hypofunction: implications in psychosis and schizophrenia.

    Directory of Open Access Journals (Sweden)

    Pilar eSánchez-Blázquez

    2014-01-01

    Full Text Available The endocannabinoid system is widespread throughout the central nervous system and its type 1 receptor (CB1 plays a crucial role in preventing the neurotoxicity caused by activation of glutamate N-methyl-D-aspartate receptors (NMDARs. Indeed, it is the activity of NMDARs themselves that provides the demands on the endogenous cannabinoids in order to control their calcium currents. Therefore, a physiological role of this system is to maintain NMDAR activity within safe limits, thereby protecting neural cells from excitotoxicity. Thus, cannabinoids may be able to control NMDAR overactivation-related neural dysfunctions; however the major obstacles to the therapeutic utilization of these compounds are their psychotropic effects and negative influence on cognitive performance. Studies in humans have indicated that abuse of smoked cannabis can promote psychosis and even circumstantially precipitate symptoms of schizophrenia, although the latter appears to require a prior vulnerability in the individual. It is possible that cannabinoids provoke psychosis/schizophrenia reflecting a mechanism common to neuroprotection the reduction of NMDAR activity. Cannabinoids are proposed to produce such effect by reducing the pre-synaptic release of glutamate or interfering with postsynaptic NMDAR-regulated signaling pathways. The efficacy of such control requires the endocannabinoid system to apply its negative influence in a manner that is proportional to the strength of NMDAR signaling. Thus, cannabinoids acting at the wrong time or exerting an inappropriate influence on their receptors may cause NMDAR hypofunction. The purpose of the present review is to draw the attention of the reader to the newly described functional and physical CB1-NMDAR association, which may elucidate the scenario required for the rapid and efficacious control of NMDAR activity. Whether alterations in these mechanisms may increase NMDAR hypofunction leading to vulnerability to

  9. Quantum-chemical study of CHCl3-SO2 association

    Science.gov (United States)

    Hippler, Michael

    2005-11-01

    CHCl3-SO2 association is studied by high-level quantum-chemical calculations of stationary points of the dimer electronic potential-energy hypersurface, including correlated second-order Møller-Plesset and CCSD(T) calculations with basis sets up to 6-311++G(d,p). During geometry optimization, frequency, and energy calculations, a self-written computer code embedding the GAMESS ab initio program suite applies counterpoise correction of the basis set superposition error. A CH ⋯O hydrogen-bonded complex (ΔE0=-8.73kJ/mol) with a 2.4Å intermolecular H ⋯O distance and two very weak van der Waals complexes (ΔE0=-3.78 and -2.94kJ /mol) are located on the counterpoise-corrected potential-energy surface. The intermolecular interactions are characterized by Kitaura-Morokuma interaction energy decompositions and Mulliken electron population analyses. The unusual hydrogen bond is distinguished by a CH-bond contraction, a pronounced enhancement of the IR intensity and a shift to higher frequency ("blueshift") of the CH-stretching vibration compared to the CHCl3 monomer. Spectroscopy and association in liquid solution is also discussed; our results provide an alternative explanation for features in the CH-stretching vibration spectrum of chloroform dissolved in liquid sulfur dioxide which have been attributed previously to an intermolecular Fermi resonance.

  10. Study of enteropathogens associated with paediatric gastroen-teritis

    Institute of Scientific and Technical Information of China (English)

    Maysaa El; Sayed Zaki

    2009-01-01

    Objective:To determine the etiology of acute diarrhea in children under 5 years of age and to improve knowl-edge of the etiology of gastrointestinal pathogens using traditional and molecular diagnostic techniques.Meth-ods:Various common enteropathogens (viral,bacterial and parasites)associated with diarrhea were investiga-ted by conventional and molecular techniques (PCR)for verotoxin present in Escherichia coli in 218 children less than 5 years of age admitted to Mansoura University Children hospital-Egypt.Results:The occurrence of enteropathogens identified was as follows:E.coli O157∶H7 38.8% followed by Salmonella Spp 29.4%,Aero-monas 20% and Shigella Spp 11.8%.Rotavirus was found in of samples 17.1%.Rotavirus was statistically significant in age <2 years old.The commonest parasites found were E.histolytica followed by Enterobius ver-micularis,Giardia lambia,Hymenolepis nana and Ascaries.Shigella and Salmonella isolates were tested for their susceptibility to common antimicrobial agents and most of the isolates were resistant to ampicillin and tri-methoprim /sulfamethoxazole.Conculsion:This study demonstrated that rotavirus,E.coli O157∶H7,Salmo-nella Spp,and Aeromonas were significant enteropathogens.Rotavirus was significantly associated with infan-tile gastroenteritis.The results highlight the value of using a combination of traditional and PCR techniques in the diagnosis of enteropathogens related to acute gastroenteritis in children.

  11. Mechanism study of goldenseal-associated DNA damage.

    Science.gov (United States)

    Chen, Si; Wan, Liqing; Couch, Letha; Lin, Haixia; Li, Yan; Dobrovolsky, Vasily N; Mei, Nan; Guo, Lei

    2013-07-31

    Goldenseal has been used for the treatment of a wide variety of ailments including gastrointestinal disturbances, urinary tract disorders, and inflammation. The five major alkaloid constituents in goldenseal are berberine, palmatine, hydrastine, hydrastinine, and canadine. When goldenseal was evaluated by the National Toxicology Program (NTP) in the standard 2-year bioassay, goldenseal induced an increase in liver tumors in rats and mice; however, the mechanism of goldenseal-associated liver carcinogenicity remains unknown. In this study, the toxicity of the five goldenseal alkaloid constituents was characterized, and their toxic potencies were compared. As measured by the Comet assay and the expression of γ-H2A.X, berberine, followed by palmatine, appeared to be the most potent DNA damage inducer in human hepatoma HepG2 cells. Berberine and palmatine suppressed the activities of both topoisomerase (Topo) I and II. In berberine-treated cells, DNA damage was shown to be directly associated with the inhibitory effect of Topo II, but not Topo I by silencing gene of Topo I or Topo II. In addition, DNA damage was also observed when cells were treated with commercially available goldenseal extracts and the extent of DNA damage was positively correlated to the berberine content. Our findings suggest that the Topo II inhibitory effect may contribute to berberine- and goldenseal-induced genotoxicity and tumorigenicity. PMID:23747414

  12. Tomographic Study of Ionospheric Effects Associated with a Solar Eclipse

    Institute of Scientific and Technical Information of China (English)

    Wu Xiong-bin; Xu Ji-sheng; Ma Shu-ying; Tian Mao

    2003-01-01

    This paper studies the ionospheric effects associ-ated with the solar eclipse of October 24th, 1995 by means of Computerized Ionospheric Tomography (CIT). Since the re-constructed profiles from experimental CIT are sporadically located in time, a time domain interpolation method based onSingular Value Decomposition (SVD) technique is proposed and applied to extract the ionospheric effects. The effects canbe extracted by comparison analysis between the interpolated CIT profiles of the eclipse days and that of the reference day that are time-aligned. A series of figs have been obtained showing the attenuation of photonization effect at low alti-tudes and the weakening of plasma's transportation process athigh altitudes, etc. The photonization effect recovered to nor-mal level soon after the last contact. The maximum electron density diminishing is observed about 2 h after the eclipse maximum and the effects seem vanished in the hours fol-lowed. Analysis on vertical TEC's latitudinal temporal variation gives similar conclusions.

  13. Implications of Reverse Innovation for Socio-Economic Sustainability: A Case Study of Philips China

    Directory of Open Access Journals (Sweden)

    Juan Shan

    2016-06-01

    Full Text Available The idea of reverse innovation, local innovation happening in emerging markets for the global market, has gained much academic and managerial attention in recent years. The purpose of this study is to understand how reverse innovation has successfully diffused into the product and market development strategies at Philips Inc., a prominent multinational company (MNC of the modern era. Furthermore, the study presents the success achieved by these innovations at both the domestic and global levels, along with their implications regarding socio-economic sustainability in emerging markets. In order to investigate the research questions, a case study of Philips China was conducted involving three product innovations that were found to be suitable examples of reverse innovation. After the study of extant literature on the topic, drawing from research databases, newspaper articles, and company press releases, five semi-structuredinterviews were conducted with key managers and a market practitioner to gain sufficient understanding for this exploratory study. Subsequent case analysis concludes that these innovations are examples of reverse innovation representing a new paradigm change in innovation flow. This flow of innovation from emerging markets to developed markets as confirmed by Corsi’s framework could potentially disrupt developed markets as well as contribute to ensure healthy living conditions for the population living in developing countries. If so, this represents a sustainable socio-economic change in-line with the United Nations' Sustainable Development Goal (SDG of “ensuring healthy lives and promoting well-being for all at all ages.” This is relevant as Philips aspires to be a prominent private sector player in achieving the above-stated goal by defeating non-communicable disease and strengthening local healthcare systems.

  14. Associated factors to repeated consultations to the urgencies service for asthma in pediatric patient: Implications for an educational program

    International Nuclear Information System (INIS)

    Bronchial asthma is one of the most frequent respiratory diseases in childhood. Recurrent emergency department visits for asthma produce anxiety and high costs for the system of health and for the family. It is important to know the factors related to these recurrent emergency department visits to assist the targeting of appropriate future interventions aimed at reducing this avoidable presentation. The objective of the present study was to identify factors associated with recurrent emergency department visits for asthma in children liable to be modified by means of an education program. Data obtained from a survey of parents of 146 pediatric patients with asthma attending an asthma clinic and educational program were examined. Parents completed an asthma knowledge and attitudes questionnaire that also included other socio demographic and illness-related variables, including the number of consultations to emergency department by their children asthma in the previous 6 months. Of the 146 asthmatic patients enrolled, 41 (28.1%) consulted repeatedly to the emergency department for asthma. After controlling for age of the patient, educational level of the parents, and functional severity of the disease, we found that parents who reported that they attended to emergency room because asthma attacks of their children were severe enough to go elsewhere (OR, 4.57; CL95%, 1.76- 11.85; P = 0.002), parents who reported that asthma medications should be administered only in symptomatic moments (OR 278, CL 95%, 1.05 - 7.33, P = 0.038 and parents that did not recognize the fact that asthma attacks can be avoided if medications are administered when there are no symptoms (between asthma attacks) (OR 2.61; CL95%; 1.03 - 7.02; p = 0,045), had a greater probability to attend rapidly the emergency room because of asthma of their children. The fact that parents of asthmatic patients have thought that asthma medications should be administered only in symptomatic patients, that they hadn

  15. Tomographic Study of Ionospheric Effects Associated with a Solar Eclipse

    Institute of Scientific and Technical Information of China (English)

    WuXiong-bin; XuJi-sheng; MaShu-ying; TianMao

    2003-01-01

    This paper studies the ionospheric effects associated with the solar eclipse of October 24th, 1995 by means of Computerized Ionospheric Tomography (CIT). Since the reconstructed profiles from experimental CIT are sporadically located in time, a time domain interpolation method based on Singular Value Decomposition (SVD) technique is proposed and applied to extract the ionospheric effects. The effects can be extracted by comparison analysis between the interpolated CIT profiles of the eclipse days and that of the reference day that are time-aligned. A series of figs have been obtained showing the attenuation of photonization effect at low altitudes and the weakening of plasma's transportation process at high altitudes, etc. The photonization effect recovered to normal level soon after the last contact. The maximum electron density diminishing is observed about 2 h after the eclipse maximum and the effects seem vanished in the hours followed. Analysis on vertical TEC's latitudinal-temporal variation gives similar conclusions.

  16. A genome wide association study (GWAS) providing evidence of an association between common genetic variants and late radiotherapy toxicity

    International Nuclear Information System (INIS)

    Background and purpose: This study was designed to identify common single nucleotide polymorphisms (SNPs) associated with toxicity 2 years after radiotherapy. Materials and methods: A genome wide association study was performed in 1850 patients from the RAPPER study: 1217 received adjuvant breast radiotherapy and 633 had radical prostate radiotherapy. Genotype associations with both overall and individual endpoints of toxicity were tested via univariable and multivariable regression. Replication of potentially associated SNPs was carried out in three independent patient cohorts who had radiotherapy for prostate (516 RADIOGEN and 862 Gene-PARE) or breast (355 LeND) cancer. Results: Quantile–quantile plots show more associations at the P < 5 × 10−7 level than expected by chance (164 vs. 9 for the prostate cases and 29 vs. 4 for breast cases), providing evidence that common genetic variants are associated with risk of toxicity. Strongest associations were for individual endpoints rather than an overall measure of toxicity in all patients. However, in general, significant associations were not validated at a nominal 0.05 level in the replication cohorts. Conclusions: This largest GWAS to date provides evidence of true association between common genetic variants and toxicity. Associations with toxicity appeared to be tumour site-specific. Future GWAS require higher statistical power, in particular in the validation stage, to test clinically relevant effect sizes of SNP associations with individual endpoints, but the required sample sizes are achievable

  17. Studies of UK Chief Executive Officers in the FTSE 350: implications for management, succession and governance

    OpenAIRE

    Rejchrt, Peter

    2014-01-01

    There is limited recent evidence from the UK on the sourcing and backgrounds of Chief Executive Officers (CEOs). Practitioner views are dominant and suggest a frequent “churn” of these individuals between lucrative roles. In particular, the implications of hiring profiles, organisational career paths and demographic backgrounds have not featured in the research focus, which has perpetuated the practitioner view of CEO succession. The governance implications of CEO successions in non-domestic ...

  18. Associations of breast cancer risk factors with tumor subtypes: a pooled analysis from the Breast Cancer Association Consortium studies

    DEFF Research Database (Denmark)

    Yang, Xiaohong R; Chang-Claude, Jenny; Goode, Ellen L;

    2011-01-01

    Previous studies have suggested that breast cancer risk factors are associated with estrogen receptor (ER) and progesterone receptor (PR) expression status of the tumors.......Previous studies have suggested that breast cancer risk factors are associated with estrogen receptor (ER) and progesterone receptor (PR) expression status of the tumors....

  19. Implications of Type1/2 Diabetes Mellitus in Breast Cancer Development: A General Female Population-based Cohort Study

    Science.gov (United States)

    Liaw, Yung-Po; Ko, Pei-Chieh; Jan, Shiou-Rung; Huang, Jing-Yang; Nfor, Oswald Ndi; Lung, Chia-Chi; Chiang, Yi-Chen; Yeh, Liang-Tsai; Chou, Ming-Chih; Tsai, Horng-Der; Hsiao, Yi-Hsuan

    2015-01-01

    significantly associated with diabetes and breast cancer risk (p<0.0001). Conclusion: Our results demonstrated different implications of diabetes type for the risk of breast cancer with type 2 posing a higher risk than type 1. This is the largest cohort study that assesses the possible correlation between both type 1 and 2 diabetes with breast cancer, and also is the largest cohort study showing that diabetes are associated with age, insurance, and region, which further suggest that living condition and life style may significantly associated with diabetes and breast cancer. PMID:26185535

  20. A strategy analysis for genetic association studies with known inbreeding

    Directory of Open Access Journals (Sweden)

    del Giacco Stefano

    2011-07-01

    Full Text Available Abstract Background Association studies consist in identifying the genetic variants which are related to a specific disease through the use of statistical multiple hypothesis testing or segregation analysis in pedigrees. This type of studies has been very successful in the case of Mendelian monogenic disorders while it has been less successful in identifying genetic variants related to complex diseases where the insurgence depends on the interactions between different genes and the environment. The current technology allows to genotype more than a million of markers and this number has been rapidly increasing in the last years with the imputation based on templates sets and whole genome sequencing. This type of data introduces a great amount of noise in the statistical analysis and usually requires a great number of samples. Current methods seldom take into account gene-gene and gene-environment interactions which are fundamental especially in complex diseases. In this paper we propose to use a non-parametric additive model to detect the genetic variants related to diseases which accounts for interactions of unknown order. Although this is not new to the current literature, we show that in an isolated population, where the most related subjects share also most of their genetic code, the use of additive models may be improved if the available genealogical tree is taken into account. Specifically, we form a sample of cases and controls with the highest inbreeding by means of the Hungarian method, and estimate the set of genes/environmental variables, associated with the disease, by means of Random Forest. Results We have evidence, from statistical theory, simulations and two applications, that we build a suitable procedure to eliminate stratification between cases and controls and that it also has enough precision in identifying genetic variants responsible for a disease. This procedure has been successfully used for the beta-thalassemia, which is

  1. A genome-wide association study of pulmonary function measures in the Framingham Heart Study.

    Directory of Open Access Journals (Sweden)

    Jemma B Wilk

    2009-03-01

    Full Text Available The ratio of forced expiratory volume in one second to forced vital capacity (FEV(1/FVC is a measure used to diagnose airflow obstruction and is highly heritable. We performed a genome-wide association study in 7,691 Framingham Heart Study participants to identify single-nucleotide polymorphisms (SNPs associated with the FEV(1/FVC ratio, analyzed as a percent of the predicted value. Identified SNPs were examined in an independent set of 835 Family Heart Study participants enriched for airflow obstruction. Four SNPs in tight linkage disequilibrium on chromosome 4q31 were associated with the percent predicted FEV(1/FVC ratio with p-values of genome-wide significance in the Framingham sample (best p-value = 3.6e-09. One of the four chromosome 4q31 SNPs (rs13147758; p-value 2.3e-08 in Framingham was genotyped in the Family Heart Study and produced evidence of association with the same phenotype, percent predicted FEV(1/FVC (p-value = 2.0e-04. The effect estimates for association in the Framingham and Family Heart studies were in the same direction, with the minor allele (G associated with higher FEV(1/FVC ratio levels. Results from the Family Heart Study demonstrated that the association extended to FEV(1 and dichotomous airflow obstruction phenotypes, particularly among smokers. The SNP rs13147758 was associated with the percent predicted FEV(1/FVC ratio in independent samples from the Framingham and Family Heart Studies producing a combined p-value of 8.3e-11, and this region of chromosome 4 around 145.68 megabases was associated with COPD in three additional populations reported in the accompanying manuscript. The associated SNPs do not lie within a gene transcript but are near the hedgehog-interacting protein (HHIP gene and several expressed sequence tags cloned from fetal lung. Though it is unclear what gene or regulatory effect explains the association, the region warrants further investigation.

  2. Genetic basis of interindividual susceptibility to cancer cachexia: selection of potential candidate gene polymorphisms for association studies

    Indian Academy of Sciences (India)

    N. Johns; B. H. Tan; M. Macmillan; T. S. Solheim; J. A. Ross; V. E. Baracos; S. Damaraju; K. C. H. Fearon

    2014-12-01

    Cancer cachexia is a complex and multifactorial disease. Evolving definitions highlight the fact that a diverse range of biological processes contribute to cancer cachexia. Part of the variation in who will and who will not develop cancer cachexia may be genetically determined. As new definitions, classifications and biological targets continue to evolve, there is a need for reappraisal of the literature for future candidate association studies. This review summarizes genes identified or implicated as well as putative candidate genes contributing to cachexia, identified through diverse technology platforms and model systems to further guide association studies. A systematic search covering 1986–2012 was performed for potential candidate genes / genetic polymorphisms relating to cancer cachexia. All candidate genes were reviewed for functional polymorphisms or clinically significant polymorphisms associated with cachexia using the OMIM and GeneRIF databases. Pathway analysis software was used to reveal possible network associations between genes. Functionality of SNPs/genes was explored based on published literature, algorithms for detecting putative deleterious SNPs and interrogating the database for expression of quantitative trait loci (eQTLs). A total of 154 genes associated with cancer cachexia were identified and explored for functional polymorphisms. Of these 154 genes, 119 had a combined total of 281 polymorphisms with functional and/or clinical significance in terms of cachexia associated with them. Of these, 80 polymorphisms (in 51 genes) were replicated in more than one study with 24 polymorphisms found to influence two or more hallmarks of cachexia (i.e., inflammation, loss of fat mass and/or lean mass and reduced survival). Selection of candidate genes and polymorphisms is a key element of multigene study design. The present study provides a contemporary basis to select genes and/or polymorphisms for further association studies in cancer cachexia, and

  3. STUDY ON BEIJING'S EMERGING MOBILE COMMUNICATION INDUSTRIAL CLUSTER AND ITS POLICY IMPLICATIONS

    Institute of Scientific and Technical Information of China (English)

    SUN Tie-shan; LI Guo-ping; LU Ming-hua

    2003-01-01

    This paper is a preliminary and illustrative case study of Beijing's emerging mobile communication industri-al (MCI) cluster, which helps understand the cluster by qualitative analysis and description. Beijing's MCI cluster is emerg-ing as far as the competence of the industry and its spatial concentration are concerned, although it is not the type of thecluster described by PORTER due to the low competence of indigenous firms. The formation of the cluster can be ex-plained by means of the factor and demand conditions of Beijing. However, it is mostly determined by the multinationalsthat promote the growth of the industry and the formation of the cluster, and by the government that also plays a key rolein many ways. As a matter of fact, the interaction between the multinationals and the local government is the key to under-standing the formation of the cluster. Allinall, Beijing's emerging MCI cluster is a value-chain, geographicallyconcentrat-ed but non-localized cluster, which is highly dominated by the multinationals and the local government. Its special character-istics bear some policy implications as to the change of the roles of the local government and the localization of multination-als, etc.

  4. Genome-wide association study of young-onset hypertension in the Han Chinese population of Taiwan.

    Directory of Open Access Journals (Sweden)

    Hsin-Chou Yang

    Full Text Available Young-onset hypertension has a stronger genetic component than late-onset counterpart; thus, the identification of genes related to its susceptibility is a critical issue for the prevention and management of this disease. We carried out a two-stage association scan to map young-onset hypertension susceptibility genes. The first-stage analysis, a genome-wide association study, analyzed 175 matched case-control pairs; the second-stage analysis, a confirmatory association study, verified the results at the first stage based on a total of 1,008 patients and 1,008 controls. Single-locus association tests, multilocus association tests and pair-wise gene-gene interaction tests were performed to identify young-onset hypertension susceptibility genes. After considering stringent adjustments of multiple testing, gene annotation and single-nucleotide polymorphism (SNP quality, four SNPs from two SNP triplets with strong association signals (-log(10(p>7 and 13 SNPs from 8 interactive SNP pairs with strong interactive signals (-log(10(p>8 were carefully re-examined. The confirmatory study verified the association for a SNP quartet 219 kb and 495 kb downstream of LOC344371 (a hypothetical gene and RASGRP3 on chromosome 2p22.3, respectively. The latter has been implicated in the abnormal vascular responsiveness to endothelin-1 and angiotensin II in diabetic-hypertensive rats. Intrinsic synergy involving IMPG1 on chromosome 6q14.2-q15 was also verified. IMPG1 encodes interphotoreceptor matrix proteoglycan 1 which has cation binding capacity. The genes are novel hypertension targets identified in this first genome-wide hypertension association study of the Han Chinese population.

  5. Platelet-derived growth factor (PDGF-BB-mediated induction of monocyte chemoattractant protein 1 in human astrocytes: implications for HIV-associated neuroinflammation

    Directory of Open Access Journals (Sweden)

    Bethel-Brown Crystal

    2012-12-01

    Full Text Available Abstract Chemokine (C-C motif ligand 2, also known as monocyte chemoattractant protein 1 (MCP-1 is an important factor for the pathogenesis of HIV-associated neurocognitive disorders (HAND. The mechanisms of MCP-1-mediated neuropathogenesis, in part, revolve around its neuroinflammatory role and the recruitment of monocytes into the central nervous system (CNS via the disrupted blood-brain barrier (BBB. We have previously demonstrated that HIV-1/HIV-1 Tat upregulate platelet-derived growth factor (PDGF-BB, a known cerebrovascular permeant; subsequently, the present study was aimed at exploring the regulation of MCP-1 by PDGF-BB in astrocytes with implications in HAND. Specifically, the data herein demonstrate that exposure of human astrocytes to HIV-1 LAI elevated PDGF-B and MCP-1 levels. Furthermore, treating astrocytes with the human recombinant PDGF-BB protein significantly increased the production and release of MCP-1 at both the RNA and protein levels. MCP-1 induction was regulated by activation of extracellular-signal-regulated kinase (ERK1/2, c-Jun N-terminal kinase (JNK and p38 mitogen-activated protein (MAP kinases and phosphatidylinositol 3-kinase (PI3K/Akt pathways and the downstream transcription factor, nuclear factor κB (NFκB. Chromatin immunoprecipitation (ChIP assays demonstrated increased binding of NFκB to the human MCP-1 promoter following PDGF-BB exposure. Conditioned media from PDGF-BB-treated astrocytes increased monocyte transmigration through human brain microvascular endothelial cells (HBMECs, an effect that was blocked by STI-571, a tyrosine kinase inhibitor (PDGF receptor (PDGF-R blocker. PDGF-BB-mediated release of MCP-1 was critical for increased permeability in an in vitro BBB model as evidenced by blocking antibody assays. Since MCP-1 is linked to disease severity, understanding its modulation by PDGF-BB could aid in understanding the proinflammatory responses in HAND. These results suggest that astrocyte

  6. A study of Helicobacter pylori -associated gastritis patterns in Iraq and their association with strain virulence

    Directory of Open Access Journals (Sweden)

    Hussein Nawfal

    2009-01-01

    Full Text Available Background/Aim: Helicobacter pylori ( H. pylori infection causes peptic ulceration and gastric adenocarcinoma. In Iraq, gastric cancer is rare. We investigated whether infected adults had the antral-predominant pattern of H. pylori -associated gastritis, which does not predispose to cancer. Materials and Methods: We evaluated histopathological changes by the Sydney scoring system in gastric biopsies taken from 30 H. pylori -infected adults and studied the correlation of these changes with the virulence factors. The Mann-Whitney test was used for the comparison of histopathological data. The presence or absence of each pathological index was evaluated with respect to the possession of virulence factors by the infecting H. pylori strain using the χ2 test. Results: Gastric lymphocyte infiltration was more prominent in the antrum ( P = 0.01. Neutrophil infiltration was mild and gastric mucosal atrophy was rare. No relationship was found between virulence factors and histopathological changes. Conclusions: The mild pathology and antral-predominant gastritis help explain the low cancer rate in Iraq.

  7. Genome-wide Association Study of Personality Traits in the Long Life Family Study

    Directory of Open Access Journals (Sweden)

    Harold T Bae

    2013-05-01

    Full Text Available Personality traits have been shown to be associated with longevity and healthy aging. In order to discover novel genetic modifiers associated with personality traits as related with longevity, we performed a genome-wide association study (GWAS on personality factors assessed by NEO-FFI in individuals enrolled in the Long Life Family Study (LLFS, a study of 583 families (N up to 4595 with clustering for longevity in the United States and Denmark. Three SNPs, in almost perfect LD, associated with agreeableness reached genome-wide significance (p<10-8 and replicated in an additional sample of 1279 LLFS subjects, although one (rs9650241 failed to replicate and the other two were not available in two independent replication cohorts, the Baltimore Longitudinal Study of Aging and the New England Centenarian Study. Based on 10,000,000 permutations, the empirical p-value of 2X10-7 was observed for the genome-wide significant SNPs. Seventeen SNPs that reached marginal statistical significance in the two previous GWASs (p-value < 10-4 and 10-5, were also marginally significantly associated in this study (p-value < 0.05, although none of the associations passed the Bonferroni correction. In addition, we tested age-by-SNP interactions and found some significant associations. Since scores of personality traits in LLFS subjects change in the oldest ages, and genetic factors outweigh environmental factors to achieve extreme ages, these age-by-SNP interactions could be a proxy for complex gene-gene interactions affecting personality traits and longevity.

  8. A cross-sectional study of prevalence and implications of depression and anxiety in psoriasis

    Directory of Open Access Journals (Sweden)

    Sreelatha Lakshmy

    2015-01-01

    Full Text Available Background: Physical and mental comorbidity is common and has significant implications for overall health outcomes. Psoriasis, a psychocutaneous disorder, is a classic example of mental-physical comorbidity. Aims: In view of the impact of socio-cultural influences on mind-body interactions and the paucity of Indian research pertaining to psychiatric morbidity in psoriatic patients, this study was undertaken to measure the prevalence of anxiety and depression in patients with psoriasis, and to correlate these with severity of psoriasis and quality of life. Materials and Methods: This cross-sectional study was conducted on 90 consecutive patients of psoriasis, over a period of 12 months, in a tertiary care centre. The Psoriasis Area and Severity Index was used to assess severity of psoriasis. PHQ-9, GAD-7 and the Perceived Stress Scale were used to screen for depression, anxiety and perceived stress respectively. The WHOQOL-BREF was used to determine the quality of life. Statistics Analysis: All analysis was performed using Microsoft Excel software and Statistical Package for Social Sciences. Results: A total of 71 (78.9% subjects had depression and 69 (76.7% had anxiety. Fifty one patients had significant stress. A significant positive correlation was established between psoriasis variables (severity and duration of psoriasis and psychological variables (depression, anxiety and stress. Severity of psoriasis had a significant negative correlation with social relationships and environmental domains of WHOQOL. Quality of life was significantly worse in patients with psoriasis with comorbid anxiety/depression. Conclusion: Patients with psoriasis have a clinically significant prevalence of depression, anxiety and perceived stress. This study highlights the complex relationship between psoriasis, psychiatric comorbidity and quality of life and the need to simultaneously consider dermatological and psychological factors.

  9. The ISO 14001 EMS Implementation Process and Its Implications: A Case Study of Central Japan.

    Science.gov (United States)

    Mohammed

    2000-02-01

    / This study aims to investigate the ISO 14001 implementation process and its implications for regional environmental management. The region of Central Japan (known as Chubu in Japanese, which literally means center) was chosen for this case study. The study focuses on selected issues such as the: (1) trends and motives of private firms in the implementation of an ISO 14001-based environmental management system (EMS); (2) obstacles during system implementation; (3) role of the system in enhancing environmental performance within the certified organization; and (4) relation between the major stakeholders, local citizens, governments, and firms after adopting the system. To achieve these objectives, a questionnaire survey was mailed to all certified firms in the region. A 58% response was achieved overall. The results show that the main aims behind the adoption of ISO 14001 by firms in the Chubu region are to improve the environmental aspects within the enterprises and to enhance the employees' environmental awareness and capacity. The results have also shown that the ISO 14001-based EMS has had a great effect on a firm's environmental status as certified firms have claimed that natural resources such as fuel, water, and paper consumption have been more efficiently managed after adopting the system. Implementation of the system causes the firms to consider the role of the local people and the government in more effectively involving the local people in the firm's daily environmental activities. It also helps to enhance the environmental awareness among the local people. Adopting the system also promotes a better relation within the enterprises affiliated to the same group, such as more attention given by the parent firms (head offices) towards other firms working for the same group, or branches-mainly small and medium sized enterprises (SMEs)-in the field of EMS. Finally, the results show that firms give serious consideration to their final products' impacts on the

  10. Replication study implicates COMT val158met polymorphism as a modulator of probabilistic reward learning.

    Science.gov (United States)

    Lancaster, T M; Heerey, E A; Mantripragada, K; Linden, D E J

    2015-07-01

    Previous studies suggest that a single nucleotide polymorphism in the catechol-O-methyltransferase (COMT) gene (val158met) may modulate reward-guided decision making in healthy individuals. The polymorphism affects dopamine catabolism and thus modulates prefrontal dopamine levels, which may lead to variation in individual responses to risk and reward. We previously showed, using tasks that index reward responsiveness (measured by responses bias towards reinforced stimuli) and risk taking (measured by the Balloon Analogue Risk Task), that COMT met homozygotes had increased reward responsiveness and, thus, an increased propensity to seek reward. In this study, we sought to replicate these effects in a larger, independent cohort of Caucasian UK university students and staff with similar demographic characteristics (n = 101; 54 females, mean age: 22.2 years). Similarly to our previous study, we observed a significant trial × COMT genotype interaction (P = 0.047; η(2) = 0.052), which was driven by a significant effect of COMT on the incremental acquisition of response bias [response bias at block 3 - block 1 (met/met > val/val: P = 0.028) and block 3 - block 2 (met/met > val/val: P = 0.007)], suggesting that COMT met homozygotes demonstrated higher levels of reward responsiveness by the end of the task. However, we failed to see main effects of COMT genotype on overall response bias or risk-seeking behaviour. These results provide additional evidence that prefrontal dopaminergic variation may have a role in reward responsiveness, but not risk-seeking behaviour. Our findings may have implications for neuropsychiatric disorders characterized by clinical deficits in reward processing such as anhedonia. PMID:26096878

  11. Genome-wide association study identifies three novel genetic markers associated with elite endurance performance

    DEFF Research Database (Denmark)

    Ahmetov, Ii; Kulemin, Na; Popov, Dv;

    2015-01-01

    To investigate the association between multiple single-nucleotide polymorphisms (SNPs), aerobic performance and elite endurance athlete status in Russians. By using GWAS approach, we examined the association between 1,140,419 SNPs and relative maximal oxygen consumption rate ([Formula: see text]O...

  12. Examining Associations Among ADHD, Homework Behavior, and Reading Comprehension: A Twin Study.

    Science.gov (United States)

    Little, Callie W; Hart, Sara A; Schatschneider, Christopher; Taylor, Jeanette

    2016-07-01

    Previous literature has indicated an important association between reading comprehension and both attention-deficit/hyperactivity disorder (ADHD) and homework habits. This investigation sought to extend previous knowledge by providing information about how ADHD and homework behavior (i.e., completing homework regularly) may jointly influence reading comprehension. Using a genetically sensitive design, this study examined the genetic and environmental influences on and between ADHD, homework behavior and reading comprehension. Participants for this study included 691 twin pairs (351 monozygotic, 340 same-sex dizygotic) from the Florida Twin Project on Behavior and Environment (FTP-BE) and 2647 twin pairs (865 monozygotic, 1782 dizygotic) from the larger Florida Twin Project on Reading (FTP-R) in Grades 3 through 7. Three separate models, each representing a different definition of ADHD (full ADHD, inattention only, and hyperactivity/impulsivity only), showed similar patterns of results; therefore, results of the full ADHD model are discussed. Overlapping genetic influences were found between ADHD, homework behavior, and reading comprehension, but no shared environmental influences among all three. However, shared environmental influences overlapped between homework behavior and reading comprehension. Although the sources of this environmental overlap are unknown, these results have implications for improving homework practices and their subsequent influence on literacy skills through homework environments. PMID:25349092

  13. Serum ferritin levels are associated with carotid atherosclerosis in Chinese postmenopausal women: the Shanghai Changfeng Study.

    Science.gov (United States)

    Ma, Hui; Lin, Huandong; Hu, Yu; Li, Xiaoming; He, Wanyuan; Jin, Xuejuan; Gao, Jian; Zhao, Naiqing; Song, Binbin; Pan, Boshen; Gao, Xin

    2015-10-14

    Postmenopausal women are at increased risk of CVD: the increased serum ferritin level may be involved in the pathogenesis. The aim of the present study is to investigate the relationship of ferritin and carotid atherosclerosis in postmenopausal women. A total of 1178 postmenopausal women (mean age, 60·8 years) were enrolled from the Changfeng Study. A standard interview, anthropometric measurements and laboratory analyses were performed for each participant. Bilateral CIMT (carotid intima-media thickness) were measured using ultrasonography, and the presence of carotid plaques was assessed. Serum ferritin was measured using electrochemiluminescence immunoassay. The results showed that serum ferritin was 181·9 (sd 65·8) ng/ml in the postmenopausal women. Multivariate, linear, stepwise regression analysis demonstrated that age (standardised β = 0·233, PCVD risk factors, Hb, leucocytes, log urine albumin:creatinine ratio and liver function, the ferritin level of postmenopausal women in the fourth quartile had a 1·587-fold increased risk of carotid plaques relative to those in the lowest quartile. In conclusion, these results suggest that serum ferritin is independently and positively associated with carotid atherosclerosis in postmenopausal women and that ferritin may be implicated in atherosclerosis. PMID:26395322

  14. Multi-locus association study of schizophrenia susceptibility genes with a posterior probability method

    Institute of Scientific and Technical Information of China (English)

    SUN; Xiangqing; JIA; Yanbin; ZHANG; Xuegong; XU; Qi; SHEN

    2005-01-01

    Schizophrenia is a serious neuropsychiatric illness affecting about 1% of the world's population. It is considered a complex inheritance disorder. A number of genes are involved in combination in the etiology of the disorder. Evidence implicates the altered dopaminergic transmission in schizophrenia. In the present study, in order to identify susceptibility genes for schizophrenia in dopaminergic metabolism, we analyzed 59 single nucleotide polymorphisms (SNPs) in 24 genes of the dopaminergic pathway among 82 unrelated patients with schizophrenia and 108 matched normal controls. Considering that traditional single-locus association studies ignore the multigenic nature of complex diseases and do not take into account possible interactions between susceptibility genes, we proposed a multi-locus analysis method, using the posterior probability of morbidity as a measure of absolute disease risk for a multi-locus genotype combination, and developed an algorithm based on perturbation and average to detect the susceptibility multi-locus genotype combinations, as well as to repress noise and avoid false positive results at our best. A three-locus SNP genotype combination involved in the interactions of COMTand ALDH3B1 genes was detected to be significantly susceptible to schizophrenia.

  15. Highway Expenditures and Associated Customer Satisfaction: A Case Study

    Directory of Open Access Journals (Sweden)

    Alexander Paz

    2016-01-01

    Full Text Available This study analyzes the satisfaction of the Nevadans with respect to their highway transportation system and the corresponding expenditures of Nevada Department of Transportation (NDOT. A survey questionnaire was designed to capture the opinions of the Nevadans (customers about a number of characteristics of their transportation system. Data from the financial data warehouse of the NDOT was used to evaluate expenditures. Multinomial probit models were estimated to study the correlations between customers’ opinion and the government expenditures in transportation. The results indicate the customer satisfaction is decreasing with respect to traffic safety throughout Northwestern and Southern Nevada highways. In addition, users of Northwestern highways are more likely to be satisfied, compared to their counterparts, with increasing construction spending to reduce the time taken to complete construction projects. In Southern Nevada highways, customers’ satisfaction increases with the expenditures associated with reduction of congestion. These insights are examples of the conclusions that were obtained as a consequence of simultaneously considering customer satisfaction and the corresponding expenditures in transportation.

  16. Genome-wide association study of proneness to anger.

    Directory of Open Access Journals (Sweden)

    Eric Mick

    Full Text Available BACKGROUND: Community samples suggest that approximately 1 in 20 children and adults exhibit clinically significant anger, hostility, and aggression. Individuals with dysregulated emotional control have a greater lifetime burden of psychiatric morbidity, severe impairment in role functioning, and premature mortality due to cardiovascular disease. METHODS: With publically available data secured from dbGaP, we conducted a genome-wide association study of proneness to anger using the Spielberger State-Trait Anger Scale in the Atherosclerosis Risk in Communities (ARIC study (n = 8,747. RESULTS: Subjects were, on average, 54 (range 45-64 years old at baseline enrollment, 47% (n = 4,117 were male, and all were of European descent by self-report. The mean Angry Temperament and Angry Reaction scores were 5.8 ± 1.8 and 7.6 ± 2.2. We observed a nominally significant finding (p = 2.9E-08, λ = 1.027 - corrected pgc = 2.2E-07, λ = 1.0015 on chromosome 6q21 in the gene coding for the non-receptor protein-tyrosine kinase, Fyn. CONCLUSIONS: Fyn interacts with NDMA receptors and inositol-1,4,5-trisphosphate (IP3-gated channels to regulate calcium influx and intracellular release in the post-synaptic density. These results suggest that signaling pathways regulating intracellular calcium homeostasis, which are relevant to memory, learning, and neuronal survival, may in part underlie the expression of Angry Temperament.

  17. American Bar Association Supplementary Guidelines for the Mitigation Function of Defense Teams in Death Penalty Cases: Implications for Social Work

    Science.gov (United States)

    Andrews, Arlene Bowers

    2012-01-01

    When a client faces a penalty of death, defense attorneys may call on social workers in many capacities: mitigation specialist, expert witness, consulting specialist, direct witness, or defense-initiated victim outreach worker. The American Bar Association set forth standards for capital defense attorneys, which led an interdisciplinary team to…

  18. Determinants of Mortality in a Combined Cohort of 501 Patients With HIV-Associated Cryptococcal Meningitis: Implications for Improving Outcomes

    Science.gov (United States)

    Jarvis, Joseph N.; Bicanic, Tihana; Loyse, Angela; Namarika, Daniel; Jackson, Arthur; Nussbaum, Jesse C.; Longley, Nicky; Muzoora, Conrad; Phulusa, Jacob; Taseera, Kabanda; Kanyembe, Creto; Wilson, Douglas; Hosseinipour, Mina C.; Brouwer, Annemarie E.; Limmathurotsakul, Direk; White, Nicholas; van der Horst, Charles; Wood, Robin; Meintjes, Graeme; Bradley, John; Jaffar, Shabbar; Harrison, Thomas

    2014-01-01

    Background. Cryptococcal meningitis (CM) is a leading cause of death in individuals infected with human immunodeficiency virus (HIV). Identifying factors associated with mortality informs strategies to improve outcomes. Methods. Five hundred one patients with HIV-associated CM were followed prospectively for 10 weeks during trials in Thailand, Uganda, Malawi, and South Africa. South African patients (n = 266) were followed for 1 year. Similar inclusion/exclusion criteria were applied at all sites. Logistic regression identified baseline variables independently associated with mortality. Results. Mortality was 17% at 2 weeks and 34% at 10 weeks. Altered mental status (odds ratio [OR], 3.1; 95% confidence interval [CI], 1.7–5.9), high cerebrospinal fluid (CSF) fungal burden (OR, 1.4 per log10 colony-forming units/mL increase; 95% CI, 1.0–1.8), older age (>50 years; OR, 3.9; 95% CI, 1.4–11.1), high peripheral white blood cell count (>10 × 109 cells/L; OR, 8.7; 95% CI, 2.5–30.2), fluconazole-based induction treatment, and slow clearance of CSF infection were independently associated with 2-week mortality. Low body weight, anemia (hemoglobin <7.5 g/dL), and low CSF opening pressure were independently associated with mortality at 10 weeks in addition to altered mental status, high fungal burden, high peripheral white cell count, and older age. In those followed for 1 year, overall mortality was 41%. Immune reconstitution inflammatory syndrome occurred in 13% of patients and was associated with 2-week CSF fungal burden (P = .007), but not with time to initiation of antiretroviral therapy (ART). Conclusions. CSF fungal burden, altered mental status, and rate of clearance of infection predict acute mortality in HIV-associated CM. The results suggest that earlier diagnosis, more rapidly fungicidal amphotericin-based regimens, and prompt immune reconstitution with ART are priorities for improving outcomes. PMID:24319084

  19. Socio-cultural Perceptions of Infertility and their Implications:A study of Women Experiencing Childlessness in South Gondar, Ethiopia

    OpenAIRE

    Bayouh, Fikir Aseffa

    2011-01-01

    Infertility is a global problem affecting a considerable number of people. However, perceptions on the causes and treatments of infertility vary across societies. This study was conducted to assess the socio-cultural perceptions of infertility and the implications of these perceptions on the lives of childless women in South Gondar, Ethiopia. The study specifically focuses on exploring the perceived causes and treatments of infertility from the perspectives of childless individuals, religious...

  20. Genome-wide association study of plasma polyunsaturated fatty acids in the InCHIANTI Study.

    Directory of Open Access Journals (Sweden)

    Toshiko Tanaka

    2009-01-01

    Full Text Available Polyunsaturated fatty acids (PUFA have a role in many physiological processes, including energy production, modulation of inflammation, and maintenance of cell membrane integrity. High plasma PUFA concentrations have been shown to have beneficial effects on cardiovascular disease and mortality. To identify genetic contributors of plasma PUFA concentrations, we conducted a genome-wide association study of plasma levels of six omega-3 and omega-6 fatty acids in 1,075 participants in the InCHIANTI study on aging. The strongest evidence for association was observed in a region of chromosome 11 that encodes three fatty acid desaturases (FADS1, FADS2, FADS3. The SNP with the most significant association was rs174537 near FADS1 in the analysis of arachidonic acid (AA; p = 5.95 x 10(-46. Minor allele homozygotes had lower AA compared to the major allele homozygotes and rs174537 accounted for 18.6% of the additive variance in AA concentrations. This SNP was also associated with levels of eicosadienoic acid (EDA; p = 6.78 x 10(-9 and eicosapentanoic acid (EPA; p = 1.07 x 10(-14. Participants carrying the allele associated with higher AA, EDA, and EPA also had higher low-density lipoprotein (LDL-C and total cholesterol levels. Outside the FADS gene cluster, the strongest region of association mapped to chromosome 6 in the region encoding an elongase of very long fatty acids 2 (ELOVL2. In this region, association was observed with EPA (rs953413; p = 1.1 x 10(-6. The effects of rs174537 were confirmed in an independent sample of 1,076 subjects participating in the GOLDN study. The ELOVL2 SNP was associated with docosapentanoic and DHA but not with EPA in GOLDN. These findings show that polymorphisms of genes encoding enzymes in the metabolism of PUFA contribute to plasma concentrations of fatty acids.

  1. A study of association of obesity with maternal complications

    International Nuclear Information System (INIS)

    To determine the association of obesity with maternal complications. Methodology: A prospective cohort study was conducted at Gynae Unit lll Jinnah Hospital Lahore, from 21st May 2011 to 20th Nov.2011 All women fulfilling the inclusion were included in this study. Two groups were made, Group l was allotted to obese pregnant women and Group ll was allotted to non-obese pregnant women. Demographic data included age, parity, duration of pregnancy and maternal complications i-e urinary tract infection , instrumental vaginal delivery and post-partum haemorrhage were recorded and analyzed by SPSS -version 13. Results: The results of this study revealed that demographics like age parity and duration of pregnancy were almost similar in both groups , common age was 25.21 +- 2.73 in group-A and 26.34 +- 3.56 years in group -B . Comparison of maternal complications revealed that 22.23 % in group-A and 10.70% in group -B had urinary tract infection, relative risk was 2.087, instrumental delivery in group -A was 14.42% and in group-B was 4.19% relative risk was 3.44 while post-partum haemorrhage was 9.77% in group -A and 3.26% in group -B , relative risk was 3.00. Conclusion: The frequency of maternal complications is higher among obese pregnant women so it is recommended that every pregnant woman who presents with increased BMI should be sort out for maternal complications. (author)

  2. Study of polypharmacy and associated problems among elderly patients

    Directory of Open Access Journals (Sweden)

    Shalini

    2012-01-01

    Full Text Available The study aims at the assessment of prescribing pattern for elderly patients, since they are more prone to prescription of multiple medications. The prescription of multiple medications leads to polypharmacy, more adverse drug reactions and non-adherence to treatment. The study was conducted on OPD basis in a rural health centre for a period of six months. Information pertaining to the age, sex, religion, monthly income, education level, any previous illnesses, or any chronic diseases, any drug treatment, adherence to the treatment, and self medication or non-allopathic treatment was collected. The study included 310 elderly patients, among which 51.9% were males and 48.1% were females. The prevalence of polypharmacy was 25.20%, more among elderly men (26.10% than women (24.20%, the odds ratio (OR was 1.11. The major fraction 35.81% of the patients was in the age group of 60-64 years. Only 59.3% were literate. 64.41% belonged to lower socioeconomic status. The cardiovascular diseases 139 (44.83 % followed by arthritis 121 (39.03%, and diabetes 58 (18.71% were the most common ailments. Anti-hypertensive drugs were prescribed in 26.13%, analgesics/antipyretics in 19.68%, and anti-diabetic drugs in 18.71%. Non-adherence to therapy was seen in 49.68%. Self medication habits were seen in 23.90% patients, who most commonly used analgesics/antipyretics and antacids/anti-ulcer drugs. Polypharmacy is very common among elderly and interventions to improve the optimal use of medication in elderly could lead to reduction in the problems associated with polypharmacy.

  3. Association between cancer and contact allergy: a linkage study

    DEFF Research Database (Denmark)

    Engkilde, Kaare; Thyssen, Jacob P; Menné, Torkil; Johansen, Jeanne D

    2011-01-01

    logistic regression analysis. Results An inverse association between contact allergy and non-melanoma skin- and breast cancer, respectively, was identified in both sexes, and an inverse trend for brain cancer was found in women with contact allergy. Additionally, a positive association between contact...... metabolites in the bladder. The authors' findings add to the limited knowledge about contact allergy and the risk of cancer....... cancer, few have looked into the association between cancer and contact allergy, a type IV allergy. By linking two clinical databases, the authors investigate the possible association between contact allergy and cancer. Methods Record linkage of two different registers was performed: (1) a tertiary...

  4. Ethical Implications of Social Stigma Associated with the Promotion and Use of Pre-Exposure Prophylaxis for HIV Prevention.

    Science.gov (United States)

    Herron, Patrick D

    2016-04-01

    Identifying sources of and eliminating social stigma associated with the promotion and use of pre-exposure prophylaxis (PrEP) for the prevention of sexually acquired HIV infection among men who have sex with men (MSM) is both a moral imperative and necessary requirement to ensure that public health objectives of HIV prevention can be met. This article will examine and address ethical concerns and criticisms regarding the use of PrEP, barriers to its promotion, and use among MSM and examine the types of social stigma associated with PrEP. An ethical justification for both healthcare and LGBT communities to address and overcome social stigma regarding the use of PrEP among MSM is offered. PMID:26859191

  5. Genome-wide association study identifies 74 loci associated with educational attainment

    DEFF Research Database (Denmark)

    Okbay, Aysu; P. Beauchamp, Jonathan; Alan Fontana, Mark;

    2016-01-01

    development. Our findings demonstrate that, even for a behavioural phenotype that is mostly environmentally determined, a well-powered GWAS identifies replicable associated genetic variants that suggest biologically relevant pathways. Because educational attainment is measured in large numbers of individuals...

  6. The Int-2/Fgf-3 oncogene product is secreted and associates with extracellular matrix: implications for cell transformation.

    OpenAIRE

    Kiefer, P; Peters, G.; Dickson, C

    1991-01-01

    NIH3T3 cells transformed by mouse Int-2/Fgf-3 cDNA express a series of Int-2-related products representing discrete stages of processing and glycosylation. We confirm that in at least two highly transformed clonal lines, Int-2 products acquire further modifications and are efficiently secreted into the culture medium. Secreted proteins become associated with the cell surface and extracellular matrix and can be displaced by addition of soluble glycosaminoglycans, specifically heparin, heparan ...

  7. VHB-JOURQUAL2: Method, Results, and Implications of the German Academic Association for Business Research's Journal Ranking

    OpenAIRE

    Schrader, Ulf; Hennig-Thurau, Thorsten

    2009-01-01

    VHB-JOURQUAL represents the official journal ranking of the German Academic Association for Business Research. Since its introduction in 2003, the ranking has become the most influential journal evaluation approach in German-speaking countries, impacting several key managerial decisions of German, Austrian, and Swiss business schools. This article reports the methodological approach of the ranking’s second edition. It also presents the main results and additional analyses on the validity of t...

  8. Multiple new Phytophthora species from ITS Clade 6 associated with natural ecosystems in Australia: evolutionary and ecological implications

    OpenAIRE

    T. Jung; Stukely, M.J.C.; Hardy, G.E.St.J.; White, D.; Paap, T.; Dunstan, W.A.; Burgess, T.I.

    2011-01-01

    During surveys of dying vegetation in natural ecosystems and associated waterways in Australia many new taxa have been identified from Phytophthora ITS Clade 6. For representative isolates, the region spanning the internal transcribed spacer region of the ribosomal DNA, the nuclear gene encoding heat shock protein 90 and the mitochondrial cox1 gene were PCR amplified and sequenced. Based on phylogenetic analysis and morphological and physiological comparison, four species and one informally d...

  9. Crystal structures of the trimeric human immunodeficiency virus type 1 matrix protein: implications for membrane association and assembly.

    OpenAIRE

    Hill, C. P.; Worthylake, D; Bancroft, D P; Christensen, A. M.; Sundquist, W. I.

    1996-01-01

    The human immunodeficiency virus type 1 (HIV-1) matrix protein forms a structural shell associated with the inner viral membrane and performs other essential functions throughout the viral life cycle. The crystal structure of the HIV-1 matrix protein, determined at 2.3 angstrom resolution, reveals that individual matrix molecules are composed of five major helices capped by a three-stranded mixed beta-sheet. Unexpectedly, the protein assembles into a trimer in three different crystal lattices...

  10. Mononuclear Phagocyte Differentiation, Activation, and Viral Infection Regulate Matrix Metalloproteinase Expression: Implications for Human Immunodeficiency Virus Type 1-Associated Dementia

    OpenAIRE

    Ghorpade, Anuja; Persidskaia, Raisa; Suryadevara, Radhika; Che, Myhanh; Liu, Xiao Juan; Persidsky, Yuri; Gendelman, Howard E.

    2001-01-01

    The pathogenesis of human immunodeficiency virus type 1 (HIV-1)-associated dementia (HAD) is mediated mainly by mononuclear phagocyte (MP) secretory products and their interactions with neural cells. Viral infection and MP immune activation may affect leukocyte entry into the brain. One factor that influences central nervous system (CNS) monocyte migration is matrix metalloproteinases (MMPs). In the CNS, MMPs are synthesized by resident glial cells and affect the integrity of the neuropil ext...

  11. An ecophysiological study of the Azolla filiculoides- Anabaena azollae association

    Science.gov (United States)

    van Kempen, Monique; Smolders, Fons; Speelman, Eveline; Reichart, Gert Jan; Barke, Judith; Brinkhuis, Henk; Lotter, Andy; Roelofs, Jan

    2010-05-01

    The long term effects of salinity stress on the growth, nutrient content and amino acid composition of the Azolla filiculoides - Anabaena azollae association was studied in a laboratory experiment. It was demonstrated that the symbiosis could tolerate salt stress up to 90 mM NaCl, even after a 100 day period of preconditioning at salt concentrations that were 30 mM NaCl lower. In the 120 mM NaCl treatment the Azolla filiculoides survived, but hardly any new biomass was produced. It was shown that during the experiment, A. filiculoides became increasingly efficient in excluding salt ions from the plant tissue and was thus able to increase its salt tolerance. The amino acid analysis revealed that the naturally occurring high glutamine concentration in the plants was strongly reduced at salt concentrations of 120 mM NaCl and higher. This was the result of the reduced nitrogenase activity at these salt concentrations, as was demonstrated in an acetylene reduction assay. We suggest that the high glutamine concentration in the plants might play a role in the osmoregulatory response against salt stress, enabling growth of the A. filiculoides -Anabaena azollae association up to 90 mM NaCl. In a mesocosm experiment it furthermore was demonstrated that Azolla might manipulate its own microenvironment when grown at elevated salt concentration (up to ~50 mmol•L-1) by promoting salinity stratification, especially when it has formed a dense cover at the water surface. Beside salt stress, we also studied the growth of Azolla filiculoides in response to elevated atmospheric carbon dioxide concentration, in combination with different light intensities and different pH of the nutrient solution. The results demonstrated that as compared to the control (ambient pCO2 concentrations), Azolla filiculoides was able to produce twice as much biomass at carbon dioxide concentrations that were five times as high as the ambient pCO2 concentration. However, it was also shown that this

  12. Statistical Analysis of Genetic Data in Twin Studies and Association Studies

    OpenAIRE

    Setiawan, A.

    2007-01-01

    In studies in human genetics we want to answer questions such as: how important are genetic effects on a phenotype; what kind of action and interaction exists between gene products in the pathways between genotypes and phenotype; are the genetic effects on a phenotype consistent across sexes; do some genes have particularly outstanding effects when compared to others; what are the locations of the genes involved in the phenotype of interest ? Twin studies and association studies as described ...

  13. Head Motion and Inattention/Hyperactivity Share Common Genetic Influences: Implications for fMRI Studies of ADHD.

    Directory of Open Access Journals (Sweden)

    Baptiste Couvy-Duchesne

    Full Text Available Head motion (HM is a well known confound in analyses of functional MRI (fMRI data. Neuroimaging researchers therefore typically treat HM as a nuisance covariate in their analyses. Even so, it is possible that HM shares a common genetic influence with the trait of interest. Here we investigate the extent to which this relationship is due to shared genetic factors, using HM extracted from resting-state fMRI and maternal and self report measures of Inattention and Hyperactivity-Impulsivity from the Strengths and Weaknesses of ADHD Symptoms and Normal Behaviour (SWAN scales. Our sample consisted of healthy young adult twins (N = 627 (63% females including 95 MZ and 144 DZ twin pairs, mean age 22, who had mother-reported SWAN; N = 725 (58% females including 101 MZ and 156 DZ pairs, mean age 25, with self reported SWAN. This design enabled us to distinguish genetic from environmental factors in the association between head movement and ADHD scales. HM was moderately correlated with maternal reports of Inattention (r = 0.17, p-value = 7.4E-5 and Hyperactivity-Impulsivity (r = 0.16, p-value = 2.9E-4, and these associations were mainly due to pleiotropic genetic factors with genetic correlations [95% CIs] of rg = 0.24 [0.02, 0.43] and rg = 0.23 [0.07, 0.39]. Correlations between self-reports and HM were not significant, due largely to increased measurement error. These results indicate that treating HM as a nuisance covariate in neuroimaging studies of ADHD will likely reduce power to detect between-group effects, as the implicit assumption of independence between HM and Inattention or Hyperactivity-Impulsivity is not warranted. The implications of this finding are problematic for fMRI studies of ADHD, as failing to apply HM correction is known to increase the likelihood of false positives. We discuss two ways to circumvent this problem: censoring the motion contaminated frames of the RS-fMRI scan or explicitly modeling the relationship between HM and

  14. Power analysis of principal components regression in genetic association studies

    Institute of Scientific and Technical Information of China (English)

    Yan-feng SHEN; Jun ZHU

    2009-01-01

    Association analysis provides an opportunity to find genetic variants underlying complex traits. A principal com-ponents regression (PCR)-based approach was shown to outperform some competing approaches. However, a limitation of this method is that the principal components (PCs) selected from single nucleotide polymorphisms (SNPs) may be unrelated to the phenotype. In this article, we investigate the theoretical properties of such a method in more detail. We first derive the exact power function of the test based on PCR, and hence clarify the relationship between the test power and the degrees of freedom (DF). Next, we extend the PCR test to a general weighted PCs test, which provides a unified framework for understanding the properties of some related statistics. We then compare the performance of these tests. We also introduce several data-driven adaptive alterna-tives to overcome difficulties in the PCR approach. Finally, we illustrate our results using simulations based on real genotype data. Simulation study shows the risk of using the unsupervised rule to determine the number of PCs, and demonstrates that there is no single uniformly powerful method for detecting genetic variants.

  15. Suprathermal helium associated with corotating interaction regions: A case study

    Science.gov (United States)

    Yu, J.; Berger, L.; Wimmer-Schweingruber, R. F.; Hilchenbach, M.; Kallenbach, R.; Klecker, B.; Guo, J.

    2016-03-01

    Enhancements of suprathermal particles observed at 1AU often can be related to Corotating Interaction Regions (CIRs). The compression regions associated with CIRs and their driven shocks which typically form at a few AU distance to the Sun can efficiently accelerate particles. If accelerated at the trailing edge of a CIR these particles can travel sunward along the ambient magnetic field and thus enhanced fluxes can be observed even if the acceleration region has passed over the spacecraft. We have analysed a CIR that has been observed at L1 by ACE/SWICS and SOHO/CELIAS/STOF on days 207 and 208 in 2003. The combination of SWICS and STOF data allowed us to study suprathermal Helium ranging from its onset at solar wind bulk energies up to 330 keV/nuc. Here we present our results for the temporal evolution of the flux, energy spectra and the He+/He++ ratio. In particular we present observational evidence for a turnover of the energy spectra at lower energies after the CIR passage which has been theoretically predicted but never been observed so far.

  16. Susceptibility to Chronic Mucus Hypersecretion, a Genome Wide Association Study

    DEFF Research Database (Denmark)

    Dijkstra, Akkelies E; Smolonska, Joanna; van den Berge, Maarten; Wijmenga, Ciska; Zanen, Pieter; Luinge, Marjan A; Platteel, Mathieu; Lammers, Jan-Willem; Dahlback, Magnus; Tosh, Kerrie; Hiemstra, Pieter S; Sterk, Peter J; Spira, Avi; Vestbo, Jorgen; Nordestgaard, Børge; Benn, Marianne; Nielsen, Sune F; Dahl, Morten; Verschuren, W Monique; Picavet, H Susan J; Smit, Henriette A; Owsijewitsch, Michael; Kauczor, Hans U; de Koning, Harry J; Nizankowska-Mogilnicka, Eva; Mejza, Filip; Nastalek, Pawel; van Diemen, Cleo C; Cho, Michael H; Silverman, Edwin K; Crapo, James D; Beaty, Terri H; Lomas, David A; Bakke, Per; Gulsvik, Amund; Bossé, Yohan; Obeidat, M A; Loth, Daan W; Lahousse, Lies; Rivadeneira, Fernando; Uitterlinden, Andre G; Hofman, Andre; Stricker, Bruno H; Brusselle, Guy G; van Duijn, Cornelia M; Brouwer, Uilke; Koppelman, Gerard H; Vonk, Judith M; Nawijn, Martijn C; Groen, Harry J M; Timens, Wim; Boezen, H Marike; Postma, Dirkje S

    2014-01-01

    BACKGROUND: Chronic mucus hypersecretion (CMH) is associated with an increased frequency of respiratory infections, excess lung function decline, and increased hospitalisation and mortality rates in the general population. It is associated with smoking, but it is unknown why only a minority of sm...

  17. Evaluating variations of genotype calling: a potential source of spurious associations in genome-wide association studies

    Indian Academy of Sciences (India)

    Xuixiao Hong; Zhenqiang Su; Weigong Ge; Leming Shi; Roger Perkins; Hong Fang; Donna Mendrick; Weida Tong

    2010-04-01

    Genome-wide association studies (GWAS) examine the entire human genome with the goal of identifying genetic variants (usually single nucleotide polymorphisms (SNPs)) that are associated with phenotypic traits such as disease status and drug response. The discordance of significantly associated SNPs for the same disease identified from different GWAS indicates that false associations exist in such results. In addition to the possible sources of spurious associations that have been investigated and discussed intensively, such as sample size and population stratification, an accurate and reproducible genotype calling algorithm is required for concordant GWAS results from different studies. However, variations of genotype calling of an algorithm and their effects on significantly associated SNPs identified in downstream association analyses have not been systematically investigated. In this paper, the variations of genotype calling using the Bayesian Robust Linear Model with Mahalanobis distance classifier (BRLMM) algorithm and the resulting influence on the lists of significantly associated SNPs were evaluated using the raw data of 270 HapMap samples analysed with the Affymetrix Human Mapping 500K Array Set (Affy500K) by changing algorithmic parameters. Modified were the Dynamic Model (DM) call confidence threshold (threshold) and the number of randomly selected SNPs (size). Comparative analysis of the calling results and the corresponding lists of significantly associated SNPs identified through association analysis revealed that algorithmic parameters used in BRLMM affected the genotype calls and the significantly associated SNPs. Both the threshold and the size affected the called genotypes and the lists of significantly associated SNPs in association analysis. The effect of the threshold was much larger than the effect of the size. Moreover, the heterozygous calls had lower consistency compared to the homozygous calls.

  18. Genome-wide association study identifies a common variant in RAD51B associated with male breast cancer risk

    DEFF Research Database (Denmark)

    Orr, Nick; Lemnrau, Alina; Cooke, Rosie;

    2012-01-01

    We conducted a genome-wide association study of male breast cancer comprising 823 cases and 2,795 controls of European ancestry, with validation in independent sample sets totaling 438 cases and 474 controls. A SNP in RAD51B at 14q24.1 was significantly associated with male breast cancer risk (P ...

  19. A whole genome association study on meat palatability in hanwoo.

    Science.gov (United States)

    Hyeong, K-E; Lee, Y-M; Kim, Y-S; Nam, K C; Jo, C; Lee, K-H; Lee, J-E; Kim, J-J

    2014-09-01

    A whole genome association (WGA) study was carried out to find quantitative trait loci (QTL) for sensory evaluation traits in Hanwoo. Carcass samples of 250 Hanwoo steers were collected from National Agricultural Cooperative Livestock Research Institute, Ansung, Gyeonggi province, Korea, between 2011 and 2012 and genotyped with the Affymetrix Bovine Axiom Array 640K single nucleotide polymorphism (SNP) chip. Among the SNPs in the chip, a total of 322,160 SNPs were chosen after quality control tests. After adjusting for the effects of age, slaughter-year-season, and polygenic effects using genome relationship matrix, the corrected phenotypes for the sensory evaluation measurements were regressed on each SNP using a simple linear regression additive based model. A total of 1,631 SNPs were detected for color, aroma, tenderness, juiciness and palatability at 0.1% comparison-wise level. Among the significant SNPs, the best set of 52 SNP markers were chosen using a forward regression procedure at 0.05 level, among which the sets of 8, 14, 11, 10, and 9 SNPs were determined for the respectively sensory evaluation traits. The sets of significant SNPs explained 18% to 31% of phenotypic variance. Three SNPs were pleiotropic, i.e. AX-26703353 and AX-26742891 that were located at 101 and 110 Mb of BTA6, respectively, influencing tenderness, juiciness and palatability, while AX-18624743 at 3 Mb of BTA10 affected tenderness and palatability. Our results suggest that some QTL for sensory measures are segregating in a Hanwoo steer population. Additional WGA studies on fatty acid and nutritional components as well as the sensory panels are in process to characterize genetic architecture of meat quality and palatability in Hanwoo. PMID:25178363

  20. Association between cancer and contact allergy: a linkage study

    DEFF Research Database (Denmark)

    Engkilde, Kaare; Thyssen, Jacob P; Menné, Torkil; Johansen, Jeanne D

    2011-01-01

    logistic regression analysis. Results An inverse association between contact allergy and non-melanoma skin- and breast cancer, respectively, was identified in both sexes, and an inverse trend for brain cancer was found in women with contact allergy. Additionally, a positive association between contact...... cancer, few have looked into the association between cancer and contact allergy, a type IV allergy. By linking two clinical databases, the authors investigate the possible association between contact allergy and cancer. Methods Record linkage of two different registers was performed: (1) a tertiary...... hospital register of dermatitis patients patch tested for contact allergy and (2) a nationwide cancer register (the Danish Cancer Register). After linking the two registers, only cancer subtypes with 40 or more patients registered were included in the analysis. The final associations were evaluated by...

  1. Factors associated with mental health status of medical residents: a model-guided study.

    Science.gov (United States)

    Anagnostopoulos, Fotios; Demerouti, Evangelia; Sykioti, Panagiota; Niakas, Dimitris; Zis, Panagiotis

    2015-03-01

    Residency is a stressful period in a physician's development, characterized by long work hours, time pressure, and excessive work load, that can exert negative effects on residents' mental health. Job burnout and negative work-home interference may play a major role in residents' mental health problems. The present study used the job demands-resources model as a theoretical framework to examine the way in which job demands (e.g., workload, emotional demands) and job resources (e.g., supervisor support, job autonomy) were associated with residents' mental health. From a pool of 290 medical residents, 264 (91 %) completed the questionnaires. Applying structural equation modeling techniques, the results showed that greater emotional exhaustion (β = -.65, SE = .09, p emotional exhaustion or work-home interference. Thus, through work-related emotional exhaustion, the impact of work conditions might be transmitted to and interfere with non-work related domains such as family life, as well as with domain-unspecific aspects of well-being, such as mental health and psychological distress. Implications of the results and suggestions for future research and practice are outlined. PMID:25554496

  2. Genetic variations underlying Alzheimer's disease: evidence from genome-wide association studies and beyond.

    Science.gov (United States)

    Cuyvers, Elise; Sleegers, Kristel

    2016-07-01

    With the advent of genome-wide association studies (GWAS) and next-generation sequencing, more than 20 risk loci that affect Alzheimer's disease have been identified. These loci are estimated to explain about 28% of the heritability of liability, 30% of familial risk, and over 50% of sibling recurrence risk of developing Alzheimer's disease. These estimates are high in comparison with those for other complex diseases for which more risk loci have been discovered, such as type 2 diabetes, which is mostly a result of the strong effect of APOE ɛ4 and to a lesser extent the rare variant TREM2 p.Arg47His. The search for functionally relevant genetic variants in risk loci detected in GWAS has revealed that the genetic variations underlying Alzheimer's disease include common variants affecting expression and splicing, a functional intragenic copy number variation, and rare pathogenic variants in risk loci, some of which might lead to familial Alzheimer's disease. An understanding of the contribution of these variants to the development of Alzheimer's disease has several clinical implications, including enhancing diagnostic accuracy and providing targets for the development of novel treatments. PMID:27302364

  3. Association study of functional genetic variants of innate immunity related genes in celiac disease

    Directory of Open Access Journals (Sweden)

    Martín J

    2005-08-01

    Full Text Available Abstract Background Recent evidence suggest that the innate immune system is implicated in the early events of celiac disease (CD pathogenesis. In this work for the first time we have assessed the relevance of different proinflammatory mediators typically related to innate immunity in CD predisposition. Methods We performed a familial study in which 105 celiac families characterized by the presence of an affected child with CD were genotyped for functional polymorphisms located at regulatory regions of IL-1α, IL-1β, IL-1RN, IL-18, RANTES and MCP-1 genes. Familial data was analysed with a transmission disequilibrium test (TDT that revealed no statistically significant differences in the transmission pattern of the different genetic markers considered. Results The TDT analysis for IL-1α, IL-1β, IL-1RN, IL-18, and MCP-1 genes genetic variants did not reveal biased transmission to the affected offspring. Only a borderline association of RANTES promoter genetic variants with CD predisposition was observed. Conclusion Our results suggest that the analysed polymorphisms of IL-1α, IL-1β, IL-1RN, IL-18, RANTES and MCP-1 genes do not seem to play a major role in CD genetic predisposition in our population.

  4. Understanding the Association Between Chronic Obstructive Pulmonary Disease and Current Anxiety: A Population-Based Study.

    Science.gov (United States)

    Fuller-Thomson, Esme; Lacombe-Duncan, Ashley

    2016-10-01

    This study's objectives were to investigate the independent relationship between COPD and past-year Generalized Anxiety Disorder (GAD) in a population-based sample of adult Canadians and to identify significant correlates of GAD among COPD patients. A series of logistic regression analyses were conducted with a sample of 11,163 respondents aged 50+ from the 2012 Canadian Community Health Survey-Mental Health to determine the degree to which the direct association between COPD and GAD was attenuated by socio-demographic factors, social support, health behaviors, sleep problems, pain, functional limitations, and early childhood adversities. Additional analyses were completed using the sub-sample of those diagnosed with COPD (n = 746) to determine predictors of GAD. One in 17 (5.8%) of older individuals with COPD had past-year GAD, in comparison to 1.7% of those without (p depressive disorders (OR = 3.59, 95% CI:1.61,7.98). Those with COPD have substantially higher odds of GAD even after most known risk factors for GAD are accounted for. These findings have implications for targeted outreach and screening, particularly for patients with pain and functional limitations. The importance of a multidisciplinary healthcare team is underscored by the multiple issues that may impact GAD among COPD patients. PMID:26830204

  5. A Study of Association of Depressive Symptoms Among the Type 2 Diabetic Outpatients Presenting to a Tertiary Care Hospital

    Directory of Open Access Journals (Sweden)

    K G Guruprasad

    2012-01-01

    Full Text Available Background: The prevalence of diabetes mellitus is increasing among Indian population over time. There are varying reports about the association of depression among type 2 diabetic individuals. However, there is limited data about this in India. Aims: To study the association of depression, demographic and socio-medical factors in type 2 diabetes patients. Settings and Design: Cross-sectional, epidemiological study. Materials and Methods: All the consenting type 2 diabetes mellitus patients attending to Medical OPD (n=210 were screened for symptoms of depression using beck depression inventory. All the participants were physically examined and a detailed psychiatric assessment were done. The relevant investigations were advised to identify comorbid conditions. Statistical Analysis: Chi-square test with odd′s ratio. Results: One-fourth of the screened diabetic patients were found to be having depression. Females and overweight individuals were found to have features of depression. Patients with long duration of diabetes and on combination of antidiabetic drugs were significantly associated with depression. Among depressed diabetics 25.9% were having Ischemic heart disease as a comorbid medical illness. Conclusions: This study shows there is increased rate of depression among type 2 diabetic individuals. The interesting association of depression with several demographic and sociomedical factors have an important implication in type 2 diabetics.

  6. Early and delayed personality changes associated with depression recovery? A one-year follow-up study.

    Science.gov (United States)

    Corruble, Emmanuelle; Duret, Caroline; Pelissolo, Antoine; Falissard, Bruno; Guelfi, Julien Daniel

    2002-01-31

    Many studies have shown the state effect of depression on personality. However, the chronology of personality changes associated with depression recovery remains unstudied. The objective of this study is to assess early (first month) and delayed personality changes associated with depression recovery. Fifty-seven depressed inpatients were assessed with the Temperament and Character Inventory (TCI) at admission, 1 month, and 1 year post-treatment. Patients were divided into poor and favorable outcome. No significant personality change was observed in patients with poor depression outcome. Conversely, a favorable outcome of depression was associated with early and delayed personality changes. Early changes were: decrease in Harm avoidance (HA(1):Worry and pessimism), increase in Cooperativeness and Self-directedness (SD(1):Responsibility, SD(4):Self-acceptance, SD(2):Purposefulness and SD(3):Resourcefulness). Delayed changes were changes in character: increase in Self-Directedness (SD(1):Responsibility, SD(4):Self-acceptance, SD(5): Congruent second nature), decrease in Self-transcendence (ST(2):Transpersonal identification). This study shows the different status of personality changes associated with depression recovery, and it contributes to a better knowledge of the state effect and of subtle clinical changes in patients who are recovering from depression. It may also have implications for the prediction of depression outcome. PMID:11850047

  7. Evidence for an association between TSH and IGF-1 receptors: A tale of two antigens implicated in Graves’ disease1

    OpenAIRE

    Tsui, Shanli; Naik, Vibha; Hoa, Neil; Hwang, Catherine J.; Afifyan, Nikoo F.; Hikim, Amiya Sinha; Gianoukakis, Andrew G.; Douglas, Raymond S.; Smith, Terry J.

    2008-01-01

    TSH receptor (TSHR) plays a central role in regulating thyroid function and is targeted by IgGs in Graves’ disease (GD-IgG). Whether TSHR is involved in the pathogenesis of thyroid associated ophthalmopathy, the orbital manifestation of GD, remains uncertain. TSHR signaling overlaps with that of insulin-like grow factor 1 receptor (IGF-1R). GD-IgG can activate fibroblasts derived from donors with GD to synthesize T cell chemoattractants and hyaluronan, actions mediated through IGF-1R. Here we...

  8. MEMORY, ASSOCIATIVE AND SYNTAGMATIC COORDINATIONS, AND LINGUISTIC MICROGENESIS: IMPLICATIONS AND PROSPECTS FOR SAUSSURE’S THEORY OF LANGUAGE

    Directory of Open Access Journals (Sweden)

    Paul J. Thibault

    2015-07-01

    Full Text Available I take Saussure’s distinction between associative and syntagmatic relations in la langue as the starting point for a re-examination of the relationship between memory and language. Saussure’s remarks on this relationship are sparse and fragmentary, cast in terms of the now largely abandoned classical accounts of early neurologists such as Broca and Wernicke, who saw language in the brain as a series of interconnected cortical areas that were presumed to be the repositories of the neurophysiological processes of language function. I draw on Andy Clark’s (1993 idea of ‘associative engines’ to consider how the associative coordination of linguistic items involves (1 the potential for evolution to exploit the gap between gross environmental input to the organism and the input to specific neural networks; and (2 the potential for the language learner qua active agent to create some of its own learning environment. I then look at the ways in which the principle of the associative coordination of diverse series stored in long-term memory makes possible and gives rise to the analysis and segmentation of linguistic syntagms. This development, in turn, makes possible the detecting of the common part of diverse syntagms such that they can be replaced with more schematic ones. The resulting linguistic schema embodies functional constraints on the input data that are available to the learner and thus serve as a pedagogical device, which I call TEACHER FUNCTION. Jason Brown’s (1988 theory of microgenesis together with Deacon’s (1989 account of the dually ‘centrifugal’ and ‘centripetal’ flows of information in the brain provide the basis of a more coherent and complete account of the neural structure of language: The utterance is microgenetically elaborated as it ‘centrifugally’ unfolds over a sequence of neuroanatomical levels (e.g., limbic, generalised neocortex, sensorimotor cortex. On this basis, I articulate some links between

  9. IMPLICATIONS OF THE ASSOCIATION AGREEMENT WITH THE EUROPEAN UNION ON THE FINANCIAL PUBLIC MANAGEMENT IN THE REPUBLIC OF MOLDOVA

    Directory of Open Access Journals (Sweden)

    Lilia ROTARU

    2015-09-01

    Full Text Available European integration is not just a goal of the foreign policy of the Republic of Moldova, but also a natural aspiration of an European nation to join the European family and the signing of the Association Agreement between Moldova and the European Union is an important step in achieving this goal. The Republic of Moldova has developed and continues to promote rigorous reforms in the area of public finance management. In this article we have analyzed the main reforms and achievements in the field of public finance management in the Republic of Moldova, their importance by reference to good European practices, but also the need to continue them in the context of signing the Association Agreement. The authors argue that until now, the public finance management reform had been focused mainly on the planning and execution phases of National Public Budget, nonetheless the main problems lay in poor budgetary reporting and control. Corruption and fraud are the main risk areas for all the promoted reforms. The conclusion of this paper is that the most urgent actions that should be undertaken consist in improving public procurement procedures, enhancing the internal control, financial inspection and external audit. Only in such a way trustful relation with EU could be created and this is particularly important as it could permit to absorb more European funds to invest in the economic and social development in our country.

  10. A narrative review of exercise-associated muscle cramps: Factors that contribute to neuromuscular fatigue and management implications.

    Science.gov (United States)

    Nelson, Nicole L; Churilla, James R

    2016-08-01

    Although exercise-associated muscle cramps (EAMC) are highly prevalent among athletic populations, the etiology and most effective management strategies are still unclear. The aims of this narrative review are 3-fold: (1) briefly summarize the evidence regarding EAMC etiology; (2) describe the risk factors and possible physiological mechanisms associated with neuromuscular fatigue and EAMC; and (3) report the current evidence regarding prevention of, and treatment for, EAMC. Based on the findings of several large prospective and experimental investigations, the available evidence indicates that EAMC is multifactorial in nature and stems from an imbalance between excitatory drive from muscle spindles and inhibitory drive from Golgi tendon organs to the alpha motor neurons rather than dehydration or electrolyte deficits. This imbalance is believed to stem from neuromuscular overload and fatigue. In concert with these findings, the most successful treatment for an acute bout of EAMC is stretching, whereas auspicious methods of prevention include efforts that delay exercise-induced fatigue. Muscle Nerve 54: 177-185, 2016. PMID:27159592

  11. Fatalities associated with farm tractor injuries: an epidemiologic study.

    OpenAIRE

    Goodman, R A; Smith, J. D.; Sikes, R K; Rogers, D L; Mickey, J L

    1985-01-01

    Death certificates were used as a source of information to characterize fatalities associated with farm tractor injuries in Georgia for the period 1971-81. In this period, 202 tractor-associated fatalities occurred among residents of Georgia; 198 of these persons were males. The annual tractor-associated fatality rate for males based on the population of male farm residents was 23.6 per 100,000; rates of fatal injury increased with age for this population. Persons whose primary occupation was...

  12. An Integrative Genomic Study Implicates the Postsynaptic Density in the Pathogenesis of Bipolar Disorder.

    Science.gov (United States)

    Akula, Nirmala; Wendland, Jens R; Choi, Kwang H; McMahon, Francis J

    2016-02-01

    Genome-wide association studies (GWAS) have identified several common variants associated with bipolar disorder (BD), but the biological meaning of these findings remains unclear. Integrative genomics-the integration of GWAS signals with gene expression data-may illuminate genes and gene networks that have key roles in the pathogenesis of BD. We applied weighted gene co-expression network analysis (WGCNA), which exploits patterns of co-expression among genes, to brain transcriptome data obtained by sequencing of poly-A RNA derived from postmortem dorsolateral prefrontal cortex from people with BD, along with age- and sex-matched controls. WGCNA identified 33 gene modules. Many of the modules corresponded closely to those previously reported in human cortex. Three modules were associated with BD, enriched for genes differentially expressed in BD, and also enriched for signals in prior GWAS of BD. Functional analysis of genes within these modules revealed significant enrichment of several functionally related sets of genes, especially those involved in the postsynaptic density (PSD). These results provide convergent support for the hypothesis that dysregulation of genes involved in the PSD is a key factor in the pathogenesis of BD. If replicated in larger samples, these findings could point toward new therapeutic targets for BD. PMID:26211730

  13. Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reports.

    Science.gov (United States)

    Brownstein, Catherine A; Kleiman, Robin J; Engle, Elizabeth C; Towne, Meghan C; D'Angelo, Eugene J; Yu, Timothy W; Beggs, Alan H; Picker, Jonathan; Fogler, Jason M; Carroll, Devon; Schmitt, Rachel C O; Wolff, Robert R; Shen, Yiping; Lip, Va; Bilguvar, Kaya; Kim, April; Tembulkar, Sahil; O'Donnell, Kyle; Gonzalez-Heydrich, Joseph

    2016-05-01

    Copy number variability at 16p13.11 has been associated with intellectual disability, autism, schizophrenia, epilepsy, and attention-deficit hyperactivity disorder. Adolescent/adult- onset psychosis has been reported in a subset of these cases. Here, we report on two children with CNVs in 16p13.11 that developed psychosis before the age of 7. The genotype and neuropsychiatric abnormalities of these patients highlight several overlapping genes that have possible mechanistic relevance to pathways previously implicated in Autism Spectrum Disorders, including the mTOR signaling and the ubiquitin-proteasome cascades. A careful screening of the 16p13.11 region is warranted in patients with childhood onset psychosis. © 2016 Wiley Periodicals, Inc. PMID:26887912

  14. Some Implications of the Philosophy of Technology for Science, Technology and Society (STS) Studies

    Science.gov (United States)

    Ankiewicz, Piet; De Swardt, Estelle; De Vries, Marc

    2006-01-01

    Technology is frequently considered in terms of its impact on entities outside its essential nature: as the impact of technology on the environment and society, but also the impact of human values and needs on technology. By taking particular social implications of technology into account, the Science-Technology relationship can be extended to the…

  15. Indoor and outdoor airborne particles. An in vitro study on mutagenic potential and toxicological implications.

    NARCIS (Netherlands)

    Houdt, van J.J.

    1988-01-01

    IntroductionAir pollution components are present as gases and as particulate matter. As particle deposition takes place in various parts of the respiratory system particulate matter may have other toxicological implications than gaseous pollutants, which all may penetrate in the low

  16. The Boston Single Life-Style Study: Implications for the Helping Professions.

    Science.gov (United States)

    Reister, Barry W.; And Others

    1981-01-01

    Discusses the single-living phenomenon, particularly in a large urban setting, and explores the realities of this life-style by examining attitudes and behaviors of a sample of single adults regarding relationships, sexuality, marriage, and children. Concludes with a discussion of implications for counseling the single client. (Author)

  17. Study of Associated α Particle Imaging Technique for Explosives Detection

    Institute of Scientific and Technical Information of China (English)

    2011-01-01

    The explosive detecting technique about neutron mainly include the thermal neutron analysis (TNA), the fast neutron analysis (FNA), the pulse fast and thermal neutron analysis (PFTNA) and the associated α particle imaging technique about fast neutron (API).

  18. Association of Group B Streptococcus Colonization and Bovine Exposure: A Prospective Cross-Sectional Cohort Study

    Science.gov (United States)

    Manning, Shannon D.; Springman, A. Cody; Million, Amber D.; Milton, Nicole R.; McNamara, Sara E.; Somsel, Patricia A.; Bartlett, Paul; Davies, H. Dele

    2010-01-01

    Background While Group B Streptococcus (GBS) human colonization and infection has long been suspected as originating from cows, several investigators have suggested that ongoing interspecies GBS transmission is unlikely due to genotyping data demonstrating that human and bovine-derived GBS strains represent mostly distinct populations. The possibility of ongoing transmission between humans and their livestock has not been systematically examined. Methodology/Principal Findings To examine ongoing interspecies transmission, we conducted a prospective cross-sectional cohort study of 68 families and their livestock. Stool specimens were collected from 154 people and 115 livestock; GBS was detected in 19 (12.3%) humans and 2 (1.7%) animals (bovine and sheep). Application of multilocus sequence typing (MLST) identified 8 sequence types (STs or clones), with STs 1 and 23 predominating. There were 11 families in which two members submitted stools and at least one had GBS colonization. In 3 of these families, both members (consisting of couples) were colonized, yielding a co-colonization rate of 27% (95% CI: 7%–61%). Two of these couples had strains with identical MLST, capsule (cps) genotype, susceptibility, and RAPD profiles. One couple co-colonized with ST-1 (cps5) strains also had a bovine colonized with the identical strain type. On multivariate analysis of questionnaire data, cattle exposure was a predictor of GBS colonization, with each unit increase in days of cattle exposure increasing the odds of colonization by 20% (P = 0.02). These results support interspecies transmission with additional evidence for transmission provided by the epidemiological association with cattle exposure. Conclusions/Significance Although GBS uncommonly colonizes livestock stools, increased frequency of cattle exposure was significantly associated with human colonization and one couple shared the same GBS strains as their bovine suggesting intraspecies transmission. These results

  19. Yin Yang 1 is associated with cancer stem cell transcription factors (SOX2, OCT4, BMI1) and clinical implication.

    Science.gov (United States)

    Kaufhold, Samantha; Garbán, Hermes; Bonavida, Benjamin

    2016-01-01

    The transcription factor Yin Yang 1 (YY1) is frequently overexpressed in cancerous tissues compared to normal tissues and has regulatory roles in cell proliferation, cell viability, epithelial-mesenchymal transition, metastasis and drug/immune resistance. YY1 shares many properties with cancer stem cells (CSCs) that drive tumorigenesis, metastasis and drug resistance and are regulated by overexpression of certain transcription factors, including SOX2, OCT4 (POU5F1), BMI1 and NANOG. Based on these similarities, it was expected that YY1 expression would be associated with SOX2, OCT4, BMI1, and NANOG's expressions and activities. Data mining from the proteomic tissue-based datasets from the Human Protein Atlas were used for protein expression patterns of YY1 and the four CSC markers in 17 types of cancer, including both solid and hematological malignancies. A close association was revealed between the frequency of expressions of YY1 and SOX2 as well as SOX2 and OCT4 in all cancers analyzed. Two types of dynamics were identified based on the nature of their association, namely, inverse or direct, between YY1 and SOX2. These two dynamics define distinctive patterns of BMI1 and OCT4 expressions. The relationship between YY1 and SOX2 expressions as well as the expressions of BMI1 and OCT4 resulted in the classification of four groups of cancers with distinct molecular signatures: 1) Prostate, lung, cervical, endometrial, ovarian and glioma cancers (YY1(lo)SOX2(hi)BMI1(hi)OCT4(hi)) 2) Skin, testis and breast cancers (YY1(hi)SOX2(lo)BMI1(hi)OCT4(hi)) 3) Liver, stomach, renal, pancreatic and urothelial cancers (YY1(lo)SOX2(lo)BMI1(hi)OCT4(hi)) and 4) Colorectal cancer, lymphoma and melanoma (YY1(hi)SOX2(hi)BMI1(lo)OCT4(hi)). A regulatory loop is proposed consisting of the cross-talk between the NF-kB/PI3K/AKT pathways and the downstream inter-regulation of target gene products YY1, OCT4, SOX2 and BMI1. PMID:27225481

  20. Individual, Social, and Environmental Factors Associated with Initiating Methamphetamine Injection: Implications for Drug Use and HIV Prevention Strategies

    OpenAIRE

    Marshall, Brandon DL; Wood, Evan; Shoveller, Jean A.; Buxton, Jane A.; Montaner, Julio SG; Kerr, Thomas

    2011-01-01

    The purpose of this study was to determine the incidence and predictors of initiating methamphetamine injection among a cohort of injection drug users (IDU). We conducted a longitudinal analysis of IDU participating in a prospective study between June 2001 and May 2008 in Vancouver, Canada. IDU who had never reported injecting methamphetamine at the study's commencement were eligible. We used Cox proportional hazards models to identify the predictors of initiating methamphetamine injection. T...