Rare and Unusual Endocrine Cancer Syndromes with Mutated Genes

PubMed Central

Lodish, Maya B.; Stratakis, Constantine A.

2010-01-01

The study of a number of rare familial syndromes associated with endocrine tumor development has led to the identification of genes involved in the development of these tumors. Major advances have been made expanding our understanding of the pathophysiology of these rare endocrine tumors, resulting in the elucidation of causative genes in rare familial diseases and a better understanding of the signaling pathways implicated in endocrine cancers. Recognition of the familial syndrome associated with a particular patient’s endocrine tumor has important implications in terms of prognosis, screening of family members, and screening for associated conditions. PMID:21167385

A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease

PubMed Central

Holmans, Peter; Moskvina, Valentina; Jones, Lesley; Sharma, Manu; Vedernikov, Alexey; Buchel, Finja; Sadd, Mohamad; Bras, Jose M.; Bettella, Francesco; Nicolaou, Nayia; Simón-Sánchez, Javier; Mittag, Florian; Gibbs, J. Raphael; Schulte, Claudia; Durr, Alexandra; Guerreiro, Rita; Hernandez, Dena; Brice, Alexis; Stefánsson, Hreinn; Majamaa, Kari; Gasser, Thomas; Heutink, Peter; Wood, Nicholas W.; Martinez, Maria; Singleton, Andrew B.; Nalls, Michael A.; Hardy, John; Morris, Huw R.; Williams, Nigel M.; Arepalli, Sampath; Barker, Roger; Barrett, Jeffrey; Ben-Shlomo, Yoav; Berendse, Henk W.; Berg, Daniela; Bhatia, Kailash; de Bie, Rob M.A.; Biffi, Alessandro; Bloem, Bas; Brice, Alexis; Bochdanovits, Zoltan; Bonin, Michael; Bras, Jose M.; Brockmann, Kathrin; Brooks, Janet; Burn, David J.; Charlesworth, Gavin; Chen, Honglei; Chinnery, Patrick F.; Chong, Sean; Clarke, Carl E.; Cookson, Mark R.; Cooper, Jonathan M.; Corvol, Jen-Christophe; Counsell, Carl; Damier, Philippe; Dartigues, Jean Francois; Deloukas, Panagiotis; Deuschl, Günther; Dexter, David T.; van Dijk, Karin D.; Dillman, Allissa; Durif, Frank; Durr, Alexandra; Edkins, Sarah; Evans, Jonathan R.; Foltynie, Thomas; Gao, Jianjun; Gardner, Michelle; Gasser, Thomas; Gibbs, J. Raphael; Goate, Alison; Gray, Emma; Guerreiro, Rita; Gústafsson, Ómar; Hardy, John; Harris, Clare; Hernandez, Dena G.; Heutink, Peter; van Hilten, Jacobus J.; Hofman, Albert; Hollenbeck, Albert; Holmans, Peter; Holton, Janice; Hu, Michele; Huber, Heiko; Hudson, Gavin; Hunt, Sarah E.; Huttenlocher, Johanna; Illig, Thomas; Langford, Cordelia; Lees, Andrew; Lesage, Suzanne; Lichtner, Peter; Limousin, Patricia; Lopez, Grisel; Lorenz, Delia; Martinez, Maria; McNeill, Alisdair; Moorby, Catriona; Moore, Matthew; Morris, Huw; Morrison, Karen E.; Moskvina, Valentina; Mudanohwo, Ese; Nalls, Michael A.; Pearson, Justin; Perlmutter, Joel S.; Pétursson, Hjörvar; Plagnol, Vincent; Pollak, Pierre; Post, Bart; Potter, Simon; Ravina, Bernard; Revesz, Tamas; Riess, Olaf; Rivadeneira, Fernando; Rizzu, Patrizia; Ryten, Mina; Saad, Mohamad; Sawcer, Stephen; Schapira, Anthony; Scheffer, Hans; Sharma, Manu; Shaw, Karen; Sheerin, Una-Marie; Shoulson, Ira; Schulte, Claudia; Sidransky, Ellen; Simón-Sánchez, Javier; Singleton, Andrew B.; Smith, Colin; Stefánsson, Hreinn; Stefánsson, Kári; Steinberg, Stacy; Stockton, Joanna D.; Sveinbjornsdottir, Sigurlaug; Talbot, Kevin; Tanner, Carlie M.; Tashakkori-Ghanbaria, Avazeh; Tison, François; Trabzuni, Daniah; Traynor, Bryan J.; Uitterlinden, André G.; Velseboer, Daan; Vidailhet, Marie; Walker, Robert; van de Warrenburg, Bart; Wickremaratchi, Mirdhu; Williams, Nigel; Williams-Gray, Caroline H.; Winder-Rhodes, Sophie; Wood, Nicholas

2013-01-01

Parkinson's disease (PD) is the second most common neurodegenerative disease affecting 1–2% in people >60 and 3–4% in people >80. Genome-wide association (GWA) studies have now implicated significant evidence for association in at least 18 genomic regions. We have studied a large PD-meta analysis and identified a significant excess of SNPs (P < 1 × 10−16) that are associated with PD but fall short of the genome-wide significance threshold. This result was independent of variants at the 18 previously implicated regions and implies the presence of additional polygenic risk alleles. To understand how these loci increase risk of PD, we applied a pathway-based analysis, testing for biological functions that were significantly enriched for genes containing variants associated with PD. Analysing two independent GWA studies, we identified that both had a significant excess in the number of functional categories enriched for PD-associated genes (minimum P = 0.014 and P = 0.006, respectively). Moreover, 58 categories were significantly enriched for associated genes in both GWA studies (P < 0.001), implicating genes involved in the ‘regulation of leucocyte/lymphocyte activity’ and also ‘cytokine-mediated signalling’ as conferring an increased susceptibility to PD. These results were unaltered by the exclusion of all 178 genes that were present at the 18 genomic regions previously reported to be strongly associated with PD (including the HLA locus). Our findings, therefore, provide independent support to the strong association signal at the HLA locus and imply that the immune-related genetic susceptibility to PD is likely to be more widespread in the genome than previously appreciated. PMID:23223016

Faculty and Technology: Implications for Faculty Training and Technology Leadership

ERIC Educational Resources Information Center

Keengwe, Jared; Kidd, Terry; Kyei-Blankson, Lydia

2009-01-01

The purpose of this study was to explore the factors affecting ICT adoption process and the implications for faculty training and technology leadership. Respondents represented a wide range of academic and professional positions. They identified themselves as Assistant, Associate, and Professor as well as Instructional Designer, Director of…

Biological Motion Task Performance Predicts Superior Temporal Sulcus Activity

ERIC Educational Resources Information Center

Herrington, John D.; Nymberg, Charlotte; Schultz, Robert T.

2011-01-01

Numerous studies implicate superior temporal sulcus (STS) in the perception of human movement. More recent theories hold that STS is also involved in the "understanding" of human movement. However, almost no studies to date have associated STS function with observable variability in action understanding. The present study directly associated STS…

Forgiveness and relationship satisfaction: mediating mechanisms.

PubMed

Braithwaite, Scott R; Selby, Edward A; Fincham, Frank D

2011-08-01

Although the ability to forgive transgressions has been linked to overall relationship satisfaction, the mechanisms that mediate this association have not been established. We propose that the tendency to forgive a romantic partner increases relationship satisfaction via increased relational effort and decreased negative conflict. In two studies, we used structural equations modeling to examine these variables as potential mechanisms that drive this association. In Study 1 (N = 523) and Study 2 (N = 446) we found that these variables significantly mediated the association between forgiveness and relationship satisfaction. The findings were robust when examined concurrently and longitudinally, across multiple measures of forgiveness, and when accounting for baseline relationship satisfaction and interpersonal commitment. These two mechanisms parallel theorized positive and negative dimensions of forgiveness and the motivational transformation that is said to underlie forgiveness. Theoretical implications and implications for intervention are discussed.

Insight and white matter fractional anisotropy in first-episode schizophrenia.

PubMed

Asmal, Laila; du Plessis, Stefan; Vink, Matthijs; Fouche, Jean-Paul; Chiliza, Bonginkosi; Emsley, Robin

2017-05-01

Impaired insight is a hallmark feature of schizophrenia. Structural studies implicate predominantly prefrontal, cingulate, cuneus/precuneus, and inferior temporal brain regions. The cortical midline structures (CMS) are also implicated in functional studies primarily through self-reflective processing tasks. However, few studies have explored the relationship between white matter tracts and insight in schizophrenia, and none in first-episode schizophrenia (FES). Here, we examined for fractional anisotropy (FA) differences in 89 minimally treated FES patients and 98 matched controls, and identified those FA differences associated with impaired clinical insight in patients. We found widespread FA reduction in FES patients compared to controls. Poorer insight in patients was predicted by lower FA values in a number of white matter tracts with a predilection for tracts associated with cortical midline structures (fronto-occipital, cingulate, cingulate hippocampus, uncinate, anterior corona radiata), and more severe depressive symptoms. The association between FA abnormalities and insight was most robust for the awareness of symptoms and illness awareness domains. Our study implicates a network of tracts involved in impaired insight in schizophrenia with a predilection for the CMS. This study is a first step in delineating the white matter tracts involved in insight impairment in schizophrenia prior to chronicity. Copyright © 2016. Published by Elsevier B.V.

Making Our White Selves Intelligible to Ourselves: Implications for Teacher Education.

ERIC Educational Resources Information Center

Mazzei, Lisa A.

This study engaged the narratives and conversations of five white teachers in an urban school district as they explored the implications associated with seeing themselves as raced individuals. It also explored how an awareness of these narratives shaped the instructional environment created by these teachers. An important element in the analysis…

The Orthopedically Disabled Child: Psychological Implications with an Individual Basis. July 1984 Revision.

ERIC Educational Resources Information Center

Sigmon, Scott B.

This study describes the implications of the Individual Psychology of Alfred Adler and field theory associated with Kurt Lewin in understanding orthopedically disabled children and points out that orthopedically disabled youngsters have a remarkable range of individual differences both in type of disability as well as level of adjustment.…

Perirhinal Cortex Is Necessary for Acquiring, but Not for Retrieving Object-Place Paired Association

ERIC Educational Resources Information Center

Jo, Yong Sang; Lee, Inah

2010-01-01

Remembering events frequently involves associating objects and their associated locations in space, and it has been implicated that the areas associated with the hippocampus are important in this function. The current study examined the role of the perirhinal cortex in retrieving familiar object-place paired associates, as well as in acquiring…

"Tell me I'm sexy…and otherwise valuable:" Body Valuation and Relationship Satisfaction.

PubMed

Meltzer, Andrea L; McNulty, James K

2014-03-01

Although extant research demonstrates that body valuation by strangers has negative implications for women, Studies 1 and 2 demonstrate that body valuation by a committed male partner is positively associated with women's relationship satisfaction when that partner also values them for their non-physical qualities, but negatively associated with women's relationship satisfaction when that partner is not committed or does not value them for their non-physical qualities. Study 3 demonstrates that body valuation by a committed female partner is negatively associated with men's relationship satisfaction when that partner does not also value them for their non-physical qualities but unassociated with men's satisfaction otherwise. These findings join others demonstrating that fully understanding the implications of interpersonal processes requires considering the interpersonal context. (120 words).

GWASeq: targeted re-sequencing follow up to GWAS.

PubMed

Salomon, Matthew P; Li, Wai Lok Sibon; Edlund, Christopher K; Morrison, John; Fortini, Barbara K; Win, Aung Ko; Conti, David V; Thomas, Duncan C; Duggan, David; Buchanan, Daniel D; Jenkins, Mark A; Hopper, John L; Gallinger, Steven; Le Marchand, Loïc; Newcomb, Polly A; Casey, Graham; Marjoram, Paul

2016-03-03

For the last decade the conceptual framework of the Genome-Wide Association Study (GWAS) has dominated the investigation of human disease and other complex traits. While GWAS have been successful in identifying a large number of variants associated with various phenotypes, the overall amount of heritability explained by these variants remains small. This raises the question of how best to follow up on a GWAS, localize causal variants accounting for GWAS hits, and as a consequence explain more of the so-called "missing" heritability. Advances in high throughput sequencing technologies now allow for the efficient and cost-effective collection of vast amounts of fine-scale genomic data to complement GWAS. We investigate these issues using a colon cancer dataset. After QC, our data consisted of 1993 cases, 899 controls. Using marginal tests of associations, we identify 10 variants distributed among six targeted regions that are significantly associated with colorectal cancer, with eight of the variants being novel to this study. Additionally, we perform so-called 'SNP-set' tests of association and identify two sets of variants that implicate both common and rare variants in the etiology of colorectal cancer. Here we present a large-scale targeted re-sequencing resource focusing on genomic regions implicated in colorectal cancer susceptibility previously identified in several GWAS, which aims to 1) provide fine-scale targeted sequencing data for fine-mapping and 2) provide data resources to address methodological questions regarding the design of sequencing-based follow-up studies to GWAS. Additionally, we show that this strategy successfully identifies novel variants associated with colorectal cancer susceptibility and can implicate both common and rare variants.

High-Fidelity Manikin-Based Simulation: A Study of Implications for Interprofessional Healthcare Practitioner Education at the Associate Degree Level of Study

ERIC Educational Resources Information Center

Fowler, Luster

2013-01-01

Healthcare practitioner training programs, specifically at the associate degree level of study, have historically focused practitioner training efforts on discipline-specific programming and curricula. However, these institutions have now begun to examine the utility and efficacy of incorporating interprofessional experiences into their programs.…

Ethnic pride, self-esteem, and school belonging: A reciprocal analysis over time.

PubMed

Hernández, Maciel M; Robins, Richard W; Widaman, Keith F; Conger, Rand D

2017-12-01

School belonging (i.e., social connectedness to school) has positive implications for academic achievement and well-being. However, few studies have examined the developmental antecedents of school belonging, particularly for students of Mexican origin. To address this gap in the research literature, the present study examined reciprocal relations between school belonging and two self-affirmation beliefs-self-esteem and ethnic pride-using data from a longitudinal study of Mexican-origin students followed from fifth to ninth grade (N = 674, Mage at Wave 1 = 10.4 years, 50% girls). Furthermore, we evaluated whether the associations were stronger for boys than girls. Using multiple group analysis in a structural equation modeling framework, results indicate that, among boys, ethnic pride was prospectively associated with increases in self-esteem, self-esteem was associated with increases in school belonging, and the direct association between ethnic pride and school belonging was bidirectional. For girls, ethnic pride was prospectively associated with later school belonging. Discussion focuses on the gender differences in observed effects and implications for school programs and interventions. (PsycINFO Database Record (c) 2017 APA, all rights reserved).

Genome-wide association analyses of child genotype effects and parent-of-origin effects in specific language impairment

PubMed Central

Nudel, R; Simpson, N H; Baird, G; O’Hare, A; Conti-Ramsden, G; Bolton, P F; Hennessy, E R; Ring, S M; Davey Smith, G; Francks, C; Paracchini, S; Monaco, A P; Fisher, S E; Newbury, D F

2014-01-01

Specific language impairment (SLI) is a neurodevelopmental disorder that affects linguistic abilities when development is otherwise normal. We report the results of a genome-wide association study of SLI which included parent-of-origin effects and child genotype effects and used 278 families of language-impaired children. The child genotype effects analysis did not identify significant associations. We found genome-wide significant paternal parent-of-origin effects on chromosome 14q12 (P = 3.74 × 10−8) and suggestive maternal parent-of-origin effects on chromosome 5p13 (P = 1.16 × 10−7). A subsequent targeted association of six single-nucleotide-polymorphisms (SNPs) on chromosome 5 in 313 language-impaired individuals and their mothers from the ALSPAC cohort replicated the maternal effects, albeit in the opposite direction (P = 0.001); as fathers’ genotypes were not available in the ALSPAC study, the replication analysis did not include paternal parent-of-origin effects. The paternally-associated SNP on chromosome 14 yields a non-synonymous coding change within the NOP9 gene. This gene encodes an RNA-binding protein that has been reported to be significantly dysregulated in individuals with schizophrenia. The region of maternal association on chromosome 5 falls between the PTGER4 and DAB2 genes, in a region previously implicated in autism and ADHD. The top SNP in this association locus is a potential expression QTL of ARHGEF19 (also called WGEF) on chromosome 1. Members of this protein family have been implicated in intellectual disability. In summary, this study implicates parent-of-origin effects in language impairment, and adds an interesting new dimension to the emerging picture of shared genetic etiology across various neurodevelopmental disorders. PMID:24571439

Genome-wide association study in alopecia areata implicates both innate and adaptive immunity.

PubMed

Petukhova, Lynn; Duvic, Madeleine; Hordinsky, Maria; Norris, David; Price, Vera; Shimomura, Yutaka; Kim, Hyunmi; Singh, Pallavi; Lee, Annette; Chen, Wei V; Meyer, Katja C; Paus, Ralf; Jahoda, Colin A B; Amos, Christopher I; Gregersen, Peter K; Christiano, Angela M

2010-07-01

Alopecia areata (AA) is among the most highly prevalent human autoimmune diseases, leading to disfiguring hair loss due to the collapse of immune privilege of the hair follicle and subsequent autoimmune attack. The genetic basis of AA is largely unknown. We undertook a genome-wide association study (GWAS) in a sample of 1,054 cases and 3,278 controls and identified 139 single nucleotide polymorphisms that are significantly associated with AA (P

Impact of associated injuries in the Floating knee: A retrospective study

PubMed Central

Rethnam, Ulfin; Yesupalan, Rajam S; Nair, Rajagopalan

2009-01-01

Background Floating knee injuries are usually associated with other significant injuries. Do these injuries have implications on the management of the floating knee and the final outcome of patients? Our study aims to assess the implications of associated injuries in the management and final outcome of floating knee. Methods 29 patients with floating knees were assessed in our institution. A retrospective analysis of medical records and radiographs were done and all associated injuries were identified. The impact of associated injuries on delay in initial surgical management, delay in rehabilitation & final outcome of the floating knee were assessed. Results 38 associated injuries were noted. 7 were associated with ipsilateral knee injuries. Lower limb injuries were most commonly associated with the floating knee. Patients with some associated injuries had a delay in surgical management and others a delay in post-operative rehabilitation. Knee ligament and vascular injuries were associated with poor outcome. Conclusion The associated injuries were quite frequent with the floating knee. Some of the associated injuries caused a delay in surgical management and post-operative rehabilitation. In assessment of the final outcome, patients with associated knee and vascular injuries had a poor prognosis. Majority of the patients with associated injuries had a good or excellent outcome. PMID:19144197

Oceanographic Mower Cruise

NASA Astrophysics Data System (ADS)

Valencia, J.; Ercilla, G.; Hernández-Molina, F. J.; Casas, D.

2015-04-01

The MOWER Cruise has executed a geophysics and geologic expedition in the Gulf of Cádiz (sector adjacent to the Strait of Gibraltar) and west off Portugal, in the framework of the coordinate research project MOWER "Erosive features and associated sandy deposits generated by the Mediterranean Outflow Water (MOW) around Iberia: paleoceanographic, sedimentary & economic implications" (CTM 2012-39599-C03). The main aim of this project is to identify and study the erosional features (terraces and channels) and associated sedimentary deposits (sandy contourites) generated by the Mediterranean Water Masses around the middle continental slope of Iberia (The Mediterranean Outflow Water - MOW - in the Atlantic margins), their Pliocene and Quaternary evolution and their paleoceanographic, sedimentary and economic implications. This objective directly involves the study of alongslope (contourite) processes associated with the MOW and across-slope (turbiditic flows, debris flows, etc.) processes in the sedimentary stacking pattern and evolution of the Iberian margins. The MOWER project and cruise are related to the Integrated Ocean Drilling Program (IODP) Expedition 339 (Mediterranean Outflow). It is also linked and coordinated with CONDRIBER Project "Contourite drifts and associated mass-transport deposits along the SW Iberia margin - implications to slope stability and tsunami hazard assessment" (2013-2015) funded by the Fundação para a Ciência e Tecnologia, Portugal (PTDC/GEO-GEO/4430/2012).

Prefrontal system dysfunction and credit card debt.

PubMed

Spinella, Marcello; Yang, Bijou; Lester, David

2004-10-01

Credit card use often involves a disadvantageous allocation of finances because they allow for spending beyond means and buying on impulse. Accordingly they are associated with increased bankruptcy, anxiety, stress, and health problems. Mounting evidence from functional neuroimaging and clinical studies implicates prefrontal-subcortical systems in processing financial information. This study examined the relationship of credit card debt and executive functions using the Frontal System Behavior Scale (FRSBE). After removing the influences of demographic variables (age, sex, education, and income), credit card debt was associated with the Executive Dysfunction scale, but not the Apathy or Disinhibition scales. This suggests that processes of conceptualizing and organizing finances are most relevant to credit card debt, and implicates dorsolateral prefrontal dysfunction.

The Association of Peer Behavioral Regulation with School Readiness Skills in Preschool

ERIC Educational Resources Information Center

Rojas, Natalia

2016-01-01

The current study examines classroom-level peer behavioral regulation skills and their implications for children's school readiness outcomes. Specifically, this study will answer the following research questions: (1) Is the average level of peers' behavioral regulation skills in a classroom in the fall associated with growth in children's school…

Factors Associated with Intensive Telecomputing Use among Teachers.

ERIC Educational Resources Information Center

Grandgenett, Neal; Harris, Judith

1994-01-01

Describes a study that investigated statistical factors associated with teachers' telecomputing use during a graduate telecommunications course. Variables including age, teaching experience, telecommunications experience, computer anxiety level, and writing apprehension level were examined for relationships with login frequency. Implications for…

“Tell me I’m sexy…and otherwise valuable:” Body Valuation and Relationship Satisfaction

PubMed Central

Meltzer, Andrea L.; McNulty, James K.

2013-01-01

Although extant research demonstrates that body valuation by strangers has negative implications for women, Studies 1 and 2 demonstrate that body valuation by a committed male partner is positively associated with women’s relationship satisfaction when that partner also values them for their non-physical qualities, but negatively associated with women’s relationship satisfaction when that partner is not committed or does not value them for their non-physical qualities. Study 3 demonstrates that body valuation by a committed female partner is negatively associated with men’s relationship satisfaction when that partner does not also value them for their non-physical qualities but unassociated with men’s satisfaction otherwise. These findings join others demonstrating that fully understanding the implications of interpersonal processes requires considering the interpersonal context. (120 words) PMID:24683309

A discrete emotions approach to positive emotion disturbance in depression

PubMed Central

Gruber, June; Oveis, Christopher; Keltner, Dacher; Johnson, Sheri L.

2012-01-01

Converging findings suggest that depressed individuals exhibit disturbances in positive emotion. No study, however, has ascertained which specific positive emotions are implicated in depression. We report two studies that compare how depressive symptoms relate to distinct positive emotions at both trait and state levels of assessment. In Study 1 (N = 185), we examined associations between depressive symptoms and three trait positive emotions (pride, happy, amusement). Study 2 compared experiential and autonomic reactivity to pride, happy, and amusement film stimuli between depressive (n = 24; DS) and non-depressive (n = 31; NDS) symptom groups. Results indicate that symptoms of depression were most strongly associated with decreased trait pride and decreased positive emotion experience to pride-eliciting films. Discussion focuses on the implications these findings have for understanding emotion deficits in depression as well as for the general study of positive emotion. PMID:21432655

Implications of Overwork and Overload for the Quality of Men's Family Relationships.

ERIC Educational Resources Information Center

Crouter, Ann C.; Bumpus, Matthew F.; Head, Melissa R.; McHale, Susan M.

2001-01-01

This study examined the implications of men's long work hours and role overload for the quality of relationships with wives and the firstborn (M=15 years) and secondborn adolescent offspring (M=12.3 years). Long hours were related to less time spent with wives. The combination of long hours and high overload was associated with less positive…

How Psychological States Affect the Immune System: Implications for Interventions in the Context of HIV.

ERIC Educational Resources Information Center

Littrell, Jill

1996-01-01

Discusses the psychological states associated with enhanced immune system functioning and those associated with suppressed immune functioning. Reviews studies of psychological and behavioral interventions to boost the immune systems of people who are HIV positive. Suggests that group interventions can enhance psychological states associated with…

Psychosocial Correlates of AUDIT-C Hazardous Drinking Risk Status: Implications for Screening and Brief Intervention in College Settings.

PubMed

Wahesh, Edward; Lewis, Todd F

2015-01-01

The current study identified psychosocial variables associated with AUDIT-C hazardous drinking risk status for male and female college students. Logistic regression analysis revealed that AUDIT-C risk status was associated with alcohol-related negative consequences, injunctive norms, and descriptive norms for both male and female participants. Sociability and self-perception outcome expectancies predicted risk status for females. Cognitive and behavioral impairment expectancies predicted risk status for men in the sample. Implications for screening and brief intervention programming efforts are discussed. © The Author(s) 2015.

Mining TCGA Data Using Boolean Implications

PubMed Central

Sinha, Subarna; Tsang, Emily K.; Zeng, Haoyang; Meister, Michela; Dill, David L.

2014-01-01

Boolean implications (if-then rules) provide a conceptually simple, uniform and highly scalable way to find associations between pairs of random variables. In this paper, we propose to use Boolean implications to find relationships between variables of different data types (mutation, copy number alteration, DNA methylation and gene expression) from the glioblastoma (GBM) and ovarian serous cystadenoma (OV) data sets from The Cancer Genome Atlas (TCGA). We find hundreds of thousands of Boolean implications from these data sets. A direct comparison of the relationships found by Boolean implications and those found by commonly used methods for mining associations show that existing methods would miss relationships found by Boolean implications. Furthermore, many relationships exposed by Boolean implications reflect important aspects of cancer biology. Examples of our findings include cis relationships between copy number alteration, DNA methylation and expression of genes, a new hierarchy of mutations and recurrent copy number alterations, loss-of-heterozygosity of well-known tumor suppressors, and the hypermethylation phenotype associated with IDH1 mutations in GBM. The Boolean implication results used in the paper can be accessed at http://crookneck.stanford.edu/microarray/TCGANetworks/. PMID:25054200

Joint associations between genetic variants and reproductive factors in glioma risk among women.

PubMed

Wang, Sophia S; Hartge, Patricia; Yeager, Meredith; Carreón, Tania; Ruder, Avima M; Linet, Martha; Inskip, Peter D; Black, Amanda; Hsing, Ann W; Alavanja, Michael; Beane-Freeman, Laura; Safaiean, Mahboobeh; Chanock, Stephen J; Rajaraman, Preetha

2011-10-15

In a pooled analysis of 4 US epidemiologic studies (1993-2001), the authors evaluated the role of 5 female reproductive factors in 357 women with glioma and 822 controls. The authors further evaluated the independent association between 5 implicated gene variants and glioma risk among the study population, as well as the joint associations of female reproductive factors (ages at menarche and menopause, menopausal status, use of oral contraceptives, and menopausal hormone therapy) and these gene variants on glioma risk. Risk estimates were calculated as odds ratios and 95% confidence intervals that were adjusted for age, race, and study. Three of the gene variants (rs4295627, a variant of CCDC26; rs4977756, a variant of CDKN2A and CDKN2B; and rs6010620, a variant of RTEL1) were statistically significantly associated with glioma risk in the present population. Compared with women who had an early age at menarche (<12 years of age), those who reported menarche at 12-13 years of age or at 14 years of age or older had a 1.7-fold higher risk and a 1.9-fold higher risk of glioma, respectively (P for trend = 0.009). Postmenopausal women and women who reported ever having used oral contraceptives had a decreased risk of glioma. The authors did not observe joint associations between these reproductive characteristics and the implicated glioma gene variants. These results require replication, but if confirmed, they would suggest that the gene variants that have previously been implicated in the development of glioma are unlikely to act through the same hormonal mechanisms in women.

Opportunities for Learning Math in Elementary School: Implications for SES Disparities in Procedural and Conceptual Math Skills

ERIC Educational Resources Information Center

Bachman, Heather J.; Votruba-Drzal, Elizabeth; El Nokali, Nermeen E.; Castle Heatly, Melissa

2015-01-01

The present study examined whether multiple opportunities to learn math were associated with smaller socioeconomic status (SES) disparities in fifth-grade math achievement using data from the NICHD Study of Early Child Care and Youth Development (SECCYD; N = 1,364). High amounts of procedural math instruction were associated with higher…

Filial Obligation and Marital Satisfaction in Middle-aged Couples

PubMed Central

Seidel, Amber J.; Birditt, Kira S.; Zarit, Steven H.; Fingerman, Karen L.

2017-01-01

Abstract Purpose of the Study: Although prior research suggests that high filial obligation has an adverse impact on psychological well-being, little is known about the implications of these beliefs for marital quality during midlife. Therefore, the purpose of this study was to examine dyadic associations between middle-aged husbands’ and wives’ filial obligation beliefs and their marital satisfaction. Design and Methods: Using a sample of 132 middle-aged husbands (M = 51.45 years) and wives (M = 49.75 years) drawn from Wave 1 of the Family Exchanges Study, we tested actor–partner interdependence models to determine associations between husbands’ and wives’ filial obligation beliefs and marital satisfaction in both spouses. We also examined associations between spousal dissimilarity in filial obligation and marital satisfaction. Results: Wives’ greater filial obligation was associated with their own lower marital satisfaction. Conversely, husbands’ greater filial obligation was associated with their own higher marital satisfaction. Greater spousal dissimilarity in filial obligation was associated with lower levels of marital satisfaction for husbands but not for wives. Implications: Given that support provided to aging parents most often occurs within the context of marriage, findings highlight the importance of examining dyadic associations between filial obligation beliefs and marital quality among middle-aged couples. PMID:26613745

An updated and expanded meta-analysis of nonresident fathering and child well-being.

PubMed

Adamsons, Kari; Johnson, Sara K

2013-08-01

Since Amato and Gilbreth's (1999) meta-analysis of nonresident father involvement and child well-being, nonmarital childbirths and nonresident father involvement both have increased. The unknown implications of such changes motivated the present study, a meta-analytic review of 52 studies of nonresident father involvement and child well-being. Consistent with Amato and Gilbreth, we found that positive forms of involvement were associated with benefits for children, with a small but statistically significant effect size. Amounts of father-child contact and financial provision, however, were not associated with child well-being. Going beyond Amato and Gilbreth, we analyzed the associations between different types of fathering and overall child well-being, and between overall father involvement and different types of child well-being. We found that nonresident father involvement was most strongly associated with children's social well-being and also was associated with children's emotional well-being, academic achievement, and behavioral adjustment. The forms of father involvement most strongly associated with child well-being were involvement in child-related activities, having positive father-child relationships, and engaging in multiple forms of involvement. Moderator analyses demonstrated variation in effect sizes based on both study characteristics and demographic variables. We discuss the implications of these findings for policy and practice. © 2013 American Psychological Association

A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.

PubMed

Manning, Alisa K; Hivert, Marie-France; Scott, Robert A; Grimsby, Jonna L; Bouatia-Naji, Nabila; Chen, Han; Rybin, Denis; Liu, Ching-Ti; Bielak, Lawrence F; Prokopenko, Inga; Amin, Najaf; Barnes, Daniel; Cadby, Gemma; Hottenga, Jouke-Jan; Ingelsson, Erik; Jackson, Anne U; Johnson, Toby; Kanoni, Stavroula; Ladenvall, Claes; Lagou, Vasiliki; Lahti, Jari; Lecoeur, Cecile; Liu, Yongmei; Martinez-Larrad, Maria Teresa; Montasser, May E; Navarro, Pau; Perry, John R B; Rasmussen-Torvik, Laura J; Salo, Perttu; Sattar, Naveed; Shungin, Dmitry; Strawbridge, Rona J; Tanaka, Toshiko; van Duijn, Cornelia M; An, Ping; de Andrade, Mariza; Andrews, Jeanette S; Aspelund, Thor; Atalay, Mustafa; Aulchenko, Yurii; Balkau, Beverley; Bandinelli, Stefania; Beckmann, Jacques S; Beilby, John P; Bellis, Claire; Bergman, Richard N; Blangero, John; Boban, Mladen; Boehnke, Michael; Boerwinkle, Eric; Bonnycastle, Lori L; Boomsma, Dorret I; Borecki, Ingrid B; Böttcher, Yvonne; Bouchard, Claude; Brunner, Eric; Budimir, Danijela; Campbell, Harry; Carlson, Olga; Chines, Peter S; Clarke, Robert; Collins, Francis S; Corbatón-Anchuelo, Arturo; Couper, David; de Faire, Ulf; Dedoussis, George V; Deloukas, Panos; Dimitriou, Maria; Egan, Josephine M; Eiriksdottir, Gudny; Erdos, Michael R; Eriksson, Johan G; Eury, Elodie; Ferrucci, Luigi; Ford, Ian; Forouhi, Nita G; Fox, Caroline S; Franzosi, Maria Grazia; Franks, Paul W; Frayling, Timothy M; Froguel, Philippe; Galan, Pilar; de Geus, Eco; Gigante, Bruna; Glazer, Nicole L; Goel, Anuj; Groop, Leif; Gudnason, Vilmundur; Hallmans, Göran; Hamsten, Anders; Hansson, Ola; Harris, Tamara B; Hayward, Caroline; Heath, Simon; Hercberg, Serge; Hicks, Andrew A; Hingorani, Aroon; Hofman, Albert; Hui, Jennie; Hung, Joseph; Jarvelin, Marjo-Riitta; Jhun, Min A; Johnson, Paul C D; Jukema, J Wouter; Jula, Antti; Kao, W H; Kaprio, Jaakko; Kardia, Sharon L R; Keinanen-Kiukaanniemi, Sirkka; Kivimaki, Mika; Kolcic, Ivana; Kovacs, Peter; Kumari, Meena; Kuusisto, Johanna; Kyvik, Kirsten Ohm; Laakso, Markku; Lakka, Timo; Lannfelt, Lars; Lathrop, G Mark; Launer, Lenore J; Leander, Karin; Li, Guo; Lind, Lars; Lindstrom, Jaana; Lobbens, Stéphane; Loos, Ruth J F; Luan, Jian'an; Lyssenko, Valeriya; Mägi, Reedik; Magnusson, Patrik K E; Marmot, Michael; Meneton, Pierre; Mohlke, Karen L; Mooser, Vincent; Morken, Mario A; Miljkovic, Iva; Narisu, Narisu; O'Connell, Jeff; Ong, Ken K; Oostra, Ben A; Palmer, Lyle J; Palotie, Aarno; Pankow, James S; Peden, John F; Pedersen, Nancy L; Pehlic, Marina; Peltonen, Leena; Penninx, Brenda; Pericic, Marijana; Perola, Markus; Perusse, Louis; Peyser, Patricia A; Polasek, Ozren; Pramstaller, Peter P; Province, Michael A; Räikkönen, Katri; Rauramaa, Rainer; Rehnberg, Emil; Rice, Ken; Rotter, Jerome I; Rudan, Igor; Ruokonen, Aimo; Saaristo, Timo; Sabater-Lleal, Maria; Salomaa, Veikko; Savage, David B; Saxena, Richa; Schwarz, Peter; Seedorf, Udo; Sennblad, Bengt; Serrano-Rios, Manuel; Shuldiner, Alan R; Sijbrands, Eric J G; Siscovick, David S; Smit, Johannes H; Small, Kerrin S; Smith, Nicholas L; Smith, Albert Vernon; Stančáková, Alena; Stirrups, Kathleen; Stumvoll, Michael; Sun, Yan V; Swift, Amy J; Tönjes, Anke; Tuomilehto, Jaakko; Trompet, Stella; Uitterlinden, Andre G; Uusitupa, Matti; Vikström, Max; Vitart, Veronique; Vohl, Marie-Claude; Voight, Benjamin F; Vollenweider, Peter; Waeber, Gerard; Waterworth, Dawn M; Watkins, Hugh; Wheeler, Eleanor; Widen, Elisabeth; Wild, Sarah H; Willems, Sara M; Willemsen, Gonneke; Wilson, James F; Witteman, Jacqueline C M; Wright, Alan F; Yaghootkar, Hanieh; Zelenika, Diana; Zemunik, Tatijana; Zgaga, Lina; Wareham, Nicholas J; McCarthy, Mark I; Barroso, Ines; Watanabe, Richard M; Florez, Jose C; Dupuis, Josée; Meigs, James B; Langenberg, Claudia

2012-05-13

Recent genome-wide association studies have described many loci implicated in type 2 diabetes (T2D) pathophysiology and β-cell dysfunction but have contributed little to the understanding of the genetic basis of insulin resistance. We hypothesized that genes implicated in insulin resistance pathways might be uncovered by accounting for differences in body mass index (BMI) and potential interactions between BMI and genetic variants. We applied a joint meta-analysis approach to test associations with fasting insulin and glucose on a genome-wide scale. We present six previously unknown loci associated with fasting insulin at P < 5 × 10(-8) in combined discovery and follow-up analyses of 52 studies comprising up to 96,496 non-diabetic individuals. Risk variants were associated with higher triglyceride and lower high-density lipoprotein (HDL) cholesterol levels, suggesting a role for these loci in insulin resistance pathways. The discovery of these loci will aid further characterization of the role of insulin resistance in T2D pathophysiology.

Ecologic Niche Modeling and Potential Reservoirs for Chagas Disease, Mexico.

PubMed Central

Sánchez-Cordero, Victor; Ben Beard, C.; Ramsey, Janine M.

2002-01-01

Ecologic niche modeling may improve our understanding of epidemiologically relevant vector and parasite-reservoir distributions. We used this tool to identify host relationships of Triatoma species implicated in transmission of Chagas disease. Associations have been documented between the protracta complex (Triatoma: Triatominae: Reduviidae) with packrat species (Neotoma spp.), providing an excellent case study for the broader challenge of developing hypotheses of association. Species pairs that were identified coincided exactly with those in previous studies, suggesting that local interactions between Triatoma and Neotoma species and subspecies have implications at a geographic level. Nothing is known about sylvatic associates of T. barberi, which are considered the primary Chagas vector in Mexico; its geographic distribution coincided closely with that of N. mexicana, suggesting interaction. The presence of the species was confirmed in two regions where it had been predicted but not previously collected. This approach may help in identifying Chagas disease risk areas, planning vector-control strategies, and exploring parasite-reservoir associations for other emerging diseases. PMID:12095431

Social reactions to disclosure of sexual victimization and adjustment among survivors of sexual assault.

PubMed

Orchowski, Lindsay M; Untied, Amy S; Gidycz, Christine A

2013-07-01

How a support provider responds to disclosure of sexual victimization has important implications for the process of recovery. The present study examines the associations between various positive and negative social reactions to sexual assault disclosure and psychological distress, coping behavior, social support, and self-esteem in a sample of college women (N = 374). Social reactions to assault disclosure that attempted to control the survivor's decisions were associated with increased symptoms of posttraumatic stress, depression, and anxiety and lower perceptions of reassurance of worth from others. Blaming social reactions were associated with less self-esteem and engagement in coping via problem solving. Social reactions that provided emotional support to the survivor were associated with increased coping by seeking emotional support. Contrary to expectations, social reactions that treated the survivor differently were associated with higher self-esteem. Implications are discussed.

Implications of Intensive Mothering Beliefs for the Well-Being of Full-Time Employed Mothers of Infants: Moderating Effects of Childcare Satisfaction and Workplace Flexibility

ERIC Educational Resources Information Center

Walls, Jill K.

2010-01-01

Hays (1996) was the first to describe the construct of intensive mothering beliefs, yet little empirical research exists to substantiate its prevalence among contemporary mothers and its implications for their lives. The purpose of this study was to examine the construct of intensive mothering beliefs and its longitudinal associations with…

Familialism, Social Support, and Stress: Positive Implications for Pregnant Latinas

PubMed Central

Campos, Belinda; Schetter, Christine Dunkel; Abdou, Cleopatra M.; Hobel, Calvin J.; Glynn, Laura M.; Sandman, Curt A.

2010-01-01

This study examined the association of familialism, a cultural value that emphasizes close family relationships, with social support, stress, pregnancy anxiety, and infant birth weight. Foreign-born Latina (n = 31), U.S.-born Latina (n = 68), and European American (n = 166) women living in the United States participated in a prospective study of pregnancy in which they completed measures of familialism, social support, stress, and pregnancy anxiety during their second trimester. As expected, Latinas scored higher on familialism than European Americans. Familialism was positively correlated with social support and negatively correlated with stress and pregnancy anxiety in the overall sample. As predicted, however, the associations of familialism with social support and stress were significantly stronger among Latinas than European Americans. Moreover, higher social support was associated with higher infant birth weight among foreign-born Latinas only. Implications of cultural values for relationships and health are discussed. PMID:18426288

Actor and Partner Effects of Attachment on Relationship Satisfaction and Sexual Satisfaction Across the Genders: An APIM Approach.

PubMed

Conradi, Henk Jan; Noordhof, Arjen; Dingemanse, Pieter; Barelds, Dick P H; Kamphuis, Jan H

2017-10-01

Previous studies found gender differences in relationship satisfaction and sexuality. We tested gender differences in associations between attachment, a lasting relationship determinant, and two outcomes, relationship and sexual satisfaction. This study improves on earlier research by examining these associations in one Actor-Partner-Interdependence-Model, making direct statistical testing between outcomes possible. Furthermore, a community and a distressed sample (N = 113 heterosexual couples each) were included to attempt replication across samples and to examine clinical implications. In both genders, actor attachment avoidance negatively affected relationship satisfaction and (with one exception) sexual satisfaction. Also in both genders, partner attachment avoidance negatively affected sexual satisfaction. However, whereas partner attachment avoidance influenced female relationship satisfaction, it did not affect male relationship satisfaction. The findings replicated across samples. Clinical implications are discussed. © 2017 American Association for Marriage and Family Therapy.

Who Lives Alone During Old Age? Trends in the Social and Functional Disadvantages of Sweden's Solitary Living Older Adults.

PubMed

Shaw, Benjamin A; Fors, Stefan; Fritzell, Johan; Lennartsoon, Carin; Agahi, Neda

2017-01-01

This study identifies specific social and functional disadvantages associated with living alone during old age in Sweden and assesses whether these associations have changed during recent decades. Data came from repeated cross-sectional surveys of Swedish adults aged 77+ during 1992-2014. Findings indicate that several types of disadvantage are consistently associated with the probability of living alone including financial insecurity and having never married for women and having never married and mobility impairment for men. Also for older men, low education has become an increasing strong determinant of living alone. These findings suggest that older adults who live alone are a subgroup that is particularly, and in some cases increasingly, vulnerable with respect to social and functional status. This has important policy implications related to addressing the needs of this growing subgroup as well as methodological implications for studies on the health effects of living alone.

The Sequencing of a College Degree during the Transition to Adulthood: Implications for Obesity*

PubMed Central

Miech, Richard Allen; Shanahan, Michael J.; Boardman, Jason; Bauldry, Shawn

2016-01-01

In this study we consider the health implications of the sequencing of a college degree vis-à-vis familial roles during the transition to adulthood. We hypothesize that people who earned a college degree before assuming familial roles will have better health than people who earned a college degree afterwards. To test this hypothesis, we focus on obesity and use data from the National Longitudinal Study of Adolescent Health. Results show that marriage before completion of college was associated with a 50% higher probability of becoming obese when compared with marriage after completion of college. Parenthood before college completion was associated with a greater-than two-fold increase in the probability of becoming obese when compared to parenthood afterwards for Black men. These findings suggest that the well-established association of education with health depends on its place in a sequence of roles. PMID:26022787

Faculty and Technology: Implications for Faculty Training and Technology Leadership

NASA Astrophysics Data System (ADS)

Keengwe, Jared; Kidd, Terry; Kyei-Blankson, Lydia

2009-02-01

The purpose of this study was to explore the factors affecting ICT adoption process and the implications for faculty training and technology leadership. Respondents represented a wide range of academic and professional positions. They identified themselves as Assistant, Associate, and Professor as well as Instructional Designer, Director of Technology, Information Manager, eLearning Manager, Assistant Department Chair, Associate Vice President of Academic Affairs and Consultant. The respondents identified Organizational Support, Leadership, Training and Development, and Resources as the predominate themes affecting Information and Communication Technology (ICT) adoption process in higher education. Evidence from this study offers insights on how higher education administrators and technology leaders could help their faculty and staff to implement appropriate ICT tools and practices to improve student learning.

Predictors of Adults' Knowledge and Awareness of HPV, HPV-Associated Cancers, and the HPV Vaccine: Implications for Health Education

ERIC Educational Resources Information Center

McBride, Kimberly R.; Singh, Shipra

2018-01-01

High human papillomavirus (HPV) prevalence and low HPV vaccine uptake are significant public health concerns. Disparities in HPV-associated cancers and HPV vaccine uptake rates suggest the need for additional research examining factors associated with vaccine acceptance. This study assessed HPV awareness and knowledge and identified…

Atrial Fibrillation and Gastro-Oesophageal Reflux Disease - Controversies and Challenges.

PubMed

Floria, Mariana; Barboi, Oana; Rezus, Ciprian; Ambarus, Valentin; Cijevschi-Prelipcean, Cristina; Balan, Gheorghe; Drug, Vasile Liviu

2015-01-01

Atrial fibrillation and gastro-oesophageal reflux are common manifestations in daily practice. The atria and the oesophagus are closely located and have similar nerve innervations. Over the last years, it has been observed that atrial fibrillation development and reflux disease could be related. Atrial fibrillation occurrence could be due to vagal nerve overstimulation. This, in association with vagal nerve-mediated parasympathetic stimulation, has also been observed in patients with gastro-oesophageal reflux. These mechanisms, in addition to inflammation, seem to be implicated in the pathophysiology of both diseases. Despite these associations supported by clinical and experimental studies, this relationship is still considered controversial. This review summarizes critical data regarding the association of gastro-oesophageal reflux and atrial fibrillation as well as their clinical implications.

Insight into the molecular genetics of myopia

PubMed Central

Li, Jiali

2017-01-01

Myopia is the most common cause of visual impairment worldwide. Genetic and environmental factors contribute to the development of myopia. Studies on the molecular genetics of myopia are well established and have implicated the important role of genetic factors. With linkage analysis, association studies, sequencing analysis, and experimental myopia studies, many of the loci and genes associated with myopia have been identified. Thus far, there has been no systemic review of the loci and genes related to non-syndromic and syndromic myopia based on the different approaches. Such a systemic review of the molecular genetics of myopia will provide clues to identify additional plausible genes for myopia and help us to understand the molecular mechanisms underlying myopia. This paper reviews recent genetic studies on myopia, summarizes all possible reported genes and loci related to myopia, and suggests implications for future studies on the molecular genetics of myopia. PMID:29386878

Insight into the molecular genetics of myopia.

PubMed

Li, Jiali; Zhang, Qingjiong

2017-01-01

Myopia is the most common cause of visual impairment worldwide. Genetic and environmental factors contribute to the development of myopia. Studies on the molecular genetics of myopia are well established and have implicated the important role of genetic factors. With linkage analysis, association studies, sequencing analysis, and experimental myopia studies, many of the loci and genes associated with myopia have been identified. Thus far, there has been no systemic review of the loci and genes related to non-syndromic and syndromic myopia based on the different approaches. Such a systemic review of the molecular genetics of myopia will provide clues to identify additional plausible genes for myopia and help us to understand the molecular mechanisms underlying myopia. This paper reviews recent genetic studies on myopia, summarizes all possible reported genes and loci related to myopia, and suggests implications for future studies on the molecular genetics of myopia.

A discrete emotions approach to positive emotion disturbance in depression.

PubMed

Gruber, June; Oveis, Christopher; Keltner, Dacher; Johnson, Sheri L

2011-01-01

Converging findings suggest that depressed individuals exhibit disturbances in positive emotion. No study, however, has ascertained which specific positive emotions are implicated in depression. We report two studies that compare how depressive symptoms relate to distinct positive emotions at both trait and state levels of assessment. In Study 1 (N=185), we examined associations between depressive symptoms and three trait positive emotions (pride, happy, amusement). Study 2 compared experiential and autonomic reactivity to pride, happy, and amusement film stimuli between depressive (n=24; DS) and non-depressive (n=31; NDS) symptom groups. Results indicate that symptoms of depression were most strongly associated with decreased trait pride and decreased positive emotion experience to pride-eliciting films. Discussion focuses on the implications these findings have for understanding emotion deficits in depression as well as for the general study of positive emotion. © 2010 Psychology Press, an imprint of the Taylor & Francis Group, an Informa business

A genome-wide association study in American Indians implicates DNER as a susceptibility locus for type 2 diabetes.

PubMed

Hanson, Robert L; Muller, Yunhua L; Kobes, Sayuko; Guo, Tingwei; Bian, Li; Ossowski, Victoria; Wiedrich, Kim; Sutherland, Jeffrey; Wiedrich, Christopher; Mahkee, Darin; Huang, Ke; Abdussamad, Maryam; Traurig, Michael; Weil, E Jennifer; Nelson, Robert G; Bennett, Peter H; Knowler, William C; Bogardus, Clifton; Baier, Leslie J

2014-01-01

Most genetic variants associated with type 2 diabetes mellitus (T2DM) have been identified through genome-wide association studies (GWASs) in Europeans. The current study reports a GWAS for young-onset T2DM in American Indians. Participants were selected from a longitudinal study conducted in Pima Indians and included 278 cases with diabetes with onset before 25 years of age, 295 nondiabetic controls ≥45 years of age, and 267 siblings of cases or controls. Individuals were genotyped on a ∼1M single nucleotide polymorphism (SNP) array, resulting in 453,654 SNPs with minor allele frequency >0.05. SNPs were analyzed for association in cases and controls, and a family-based association test was conducted. Tag SNPs (n = 311) were selected for 499 SNPs associated with diabetes (P < 0.0005 in case-control analyses or P < 0.0003 in family-based analyses), and these SNPs were genotyped in up to 6,834 additional Pima Indians to assess replication. Rs1861612 in DNER was associated with T2DM (odds ratio = 1.29 per copy of the T allele; P = 6.6 × 10(-8), which represents genome-wide significance accounting for the number of effectively independent SNPs analyzed). Transfection studies in murine pancreatic β-cells suggested that DNER regulates expression of notch signaling pathway genes. These studies implicate DNER as a susceptibility gene for T2DM in American Indians.

The CHARGE Association: Implications for Teachers.

ERIC Educational Resources Information Center

Jones, Thomas W.; Dunne, Michele T.

1988-01-01

CHARGE association is described as a diagnostic label for a group of congenital malformations, including coloboma, heart defects, atresia choanae, retarded postnatal growth/central nervous system defects, genital hypoplasia, and ear deformities. Etiology and characteristics of the CHARGE association are discussed, along with implications for…

A Developmental-Genetic Model of Alcoholism: Implications for Genetic Research.

ERIC Educational Resources Information Center

Devor, Eric J.

1994-01-01

Research for biological-genetic markers of alcoholism is discussed in context of a multifactorial, heterogeneous, developmental model. Suggested that strategies used in linkage and association studies will require modification. Also suggested several extant associations of genetic markers represent true secondary interactive phenomena that alter…

Differential Olfactory Identification in Children with Autism and Asperger's Disorder: A Comparative and Longitudinal Study

ERIC Educational Resources Information Center

May, Tamara; Brewer, Warrick J.; Rinehart, Nicole J.; Enticott, Peter G.; Brereton, Avril V.; Tonge, Bruce J.

2011-01-01

Key theories of autism implicate orbitofrontal cortex (OFC) compromise, while olfactory identification (OI) deficits are associated with OFC dysfunction. This study aimed to complete a 5-year follow-up of children with high-functioning autism (HFA) who previously lacked the normal age-OI association; and compare unirhinal-OI in children with HFA,…

Epidemiology of Epilepsy in Older Adults with an Intellectual Disability in Ireland: Associations and Service Implications

ERIC Educational Resources Information Center

McCarron, Mary; O'Dwyer, Marie; Burke, Eilish; McGlinchey, Eimear; McCallion, Philip

2014-01-01

There are limited studies on the prevalence of epilepsy and co-morbid conditions in older adults with an ID. To begin to address this prevalence of epilepsy was estimated for participants in the Intellectual Disability Supplement to the Irish Longitudinal Study on Ageing. Associations with demographic variables and co morbid health conditions were…

Trends in participation rates for wildlife-associated outdoor recreation activities by age and race/ethnicity: implications for cohort-component projection models

Treesearch

John F. Dwyer; Allan Marsinko

1998-01-01

Cohort-component projection models have been used to explore the implications of increased aging and growth of racial/ethnic minority groups on number of participants in outdoor recreation activities in the years ahead. Projections usually assume that participation rates by age and race/ethnicity remain constant over time. This study looks at trends in activity...

An update on the genetic architecture of hyperuricemia and gout.

PubMed

Merriman, Tony R

2015-04-10

Genome-wide association studies that scan the genome for common genetic variants associated with phenotype have greatly advanced medical knowledge. Hyperuricemia is no exception, with 28 loci identified. However, genetic control of pathways determining gout in the presence of hyperuricemia is still poorly understood. Two important pathways determining hyperuricemia have been confirmed (renal and gut excretion of uric acid with glycolysis now firmly implicated). Major urate loci are SLC2A9 and ABCG2. Recent studies show that SLC2A9 is involved in renal and gut excretion of uric acid and is implicated in antioxidant defense. Although etiological variants at SLC2A9 are yet to be identified, it is clear that considerable genetic complexity exists at the SLC2A9 locus, with multiple statistically independent genetic variants and local epistatic interactions. The positions of implicated genetic variants within or near chromatin regions involved in transcriptional control suggest that this mechanism (rather than structural changes in SLC2A9) is important in regulating the activity of SLC2A9. ABCG2 is involved primarily in extra-renal uric acid under-excretion with the etiological variant influencing expression. At the other 26 loci, probable causal genes can be identified at three (PDZK1, SLC22A11, and INHBB) with strong candidates at a further 10 loci. Confirmation of the causal gene will require a combination of re-sequencing, trans-ancestral mapping, and correlation of genetic association data with expression data. As expected, the urate loci associate with gout, although inconsistent effect sizes for gout require investigation. Finally, there has been no genome-wide association study using clinically ascertained cases to investigate the causes of gout in the presence of hyperuricemia. In such a study, use of asymptomatic hyperurcemic controls would be expected to increase the ability to detect genetic associations with gout.

Deep Sequencing of Three Loci Implicated in Large-Scale Genome-Wide Association Study Smoking Meta-Analyses.

PubMed

Clark, Shaunna L; McClay, Joseph L; Adkins, Daniel E; Aberg, Karolina A; Kumar, Gaurav; Nerella, Sri; Xie, Linying; Collins, Ann L; Crowley, James J; Quakenbush, Corey R; Hillard, Christopher E; Gao, Guimin; Shabalin, Andrey A; Peterson, Roseann E; Copeland, William E; Silberg, Judy L; Maes, Hermine; Sullivan, Patrick F; Costello, Elizabeth J; van den Oord, Edwin J

2016-05-01

Genome-wide association study meta-analyses have robustly implicated three loci that affect susceptibility for smoking: CHRNA5\\CHRNA3\\CHRNB4, CHRNB3\\CHRNA6 and EGLN2\\CYP2A6. Functional follow-up studies of these loci are needed to provide insight into biological mechanisms. However, these efforts have been hampered by a lack of knowledge about the specific causal variant(s) involved. In this study, we prioritized variants in terms of the likelihood they account for the reported associations. We employed targeted capture of the CHRNA5\\CHRNA3\\CHRNB4, CHRNB3\\CHRNA6, and EGLN2\\CYP2A6 loci and flanking regions followed by next-generation deep sequencing (mean coverage 78×) to capture genomic variation in 363 individuals. We performed single locus tests to determine if any single variant accounts for the association, and examined if sets of (rare) variants that overlapped with biologically meaningful annotations account for the associations. In total, we investigated 963 variants, of which 71.1% were rare (minor allele frequency < 0.01), 6.02% were insertion/deletions, and 51.7% were catalogued in dbSNP141. The single variant results showed that no variant fully accounts for the association in any region. In the variant set results, CHRNB4 accounts for most of the signal with significant sets consisting of directly damaging variants. CHRNA6 explains most of the signal in the CHRNB3\\CHRNA6 locus with significant sets indicating a regulatory role for CHRNA6. Significant sets in CYP2A6 involved directly damaging variants while the significant variant sets suggested a regulatory role for EGLN2. We found that multiple variants implicating multiple processes explain the signal. Some variants can be prioritized for functional follow-up. © The Author 2015. Published by Oxford University Press on behalf of the Society for Research on Nicotine and Tobacco. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

Deep Sequencing of Three Loci Implicated in Large-Scale Genome-Wide Association Study Smoking Meta-Analyses

PubMed Central

McClay, Joseph L.; Adkins, Daniel E.; Aberg, Karolina A.; Kumar, Gaurav; Nerella, Sri; Xie, Linying; Collins, Ann L.; Crowley, James J.; Quakenbush, Corey R.; Hillard, Christopher E.; Gao, Guimin; Shabalin, Andrey A.; Peterson, Roseann E.; Copeland, William E.; Silberg, Judy L.; Maes, Hermine; Sullivan, Patrick F.; Costello, Elizabeth J.; van den Oord, Edwin J.

2016-01-01

Abstract Introduction: Genome-wide association study meta-analyses have robustly implicated three loci that affect susceptibility for smoking: CHRNA5\\CHRNA3\\CHRNB4 , CHRNB3\\CHRNA6 and EGLN2\\CYP2A6 . Functional follow-up studies of these loci are needed to provide insight into biological mechanisms. However, these efforts have been hampered by a lack of knowledge about the specific causal variant(s) involved. In this study, we prioritized variants in terms of the likelihood they account for the reported associations. Methods: We employed targeted capture of the CHRNA5\\CHRNA3\\CHRNB4 , CHRNB3\\CHRNA6 , and EGLN2\\CYP2A6 loci and flanking regions followed by next-generation deep sequencing (mean coverage 78×) to capture genomic variation in 363 individuals. We performed single locus tests to determine if any single variant accounts for the association, and examined if sets of (rare) variants that overlapped with biologically meaningful annotations account for the associations. Results: In total, we investigated 963 variants, of which 71.1% were rare (minor allele frequency < 0.01), 6.02% were insertion/deletions, and 51.7% were catalogued in dbSNP141. The single variant results showed that no variant fully accounts for the association in any region. In the variant set results, CHRNB4 accounts for most of the signal with significant sets consisting of directly damaging variants. CHRNA6 explains most of the signal in the CHRNB3\\CHRNA6 locus with significant sets indicating a regulatory role for CHRNA6 . Significant sets in CYP2A6 involved directly damaging variants while the significant variant sets suggested a regulatory role for EGLN2 . Conclusions: We found that multiple variants implicating multiple processes explain the signal. Some variants can be prioritized for functional follow-up. PMID:26283763

Evaluation of the expression genes associated with resistance to Aspergillus flavus colonization and aflatoxin production in different maize lines.

USDA-ARS?s Scientific Manuscript database

Aflatoxins are carcinogenic toxic compounds produced by Aspergillus flavus during infection of crops including maize (Zea mays L.). Contamination of maize with aflatoxin is exacerbated by late season drought stress. Previous studies have implicated numerous resistance-associated proteins (RAPs) that...

Longitudinal associations between BMI, waist circumference, and cardiometabolic risk in US youth: Monitoring implications

USDA-ARS?s Scientific Manuscript database

This study examined whether change in body mass index (BMI) or waist circumference (WC)is associated with change in cardiometabolic risk factors and differences between cardiovascular disease specific and diabetes specific risk factors among adolescents. We also sought to examine any differences by ...

Substance Use and Personal Adjustment among Disadvantaged Teenagers: A Six-Month Prospective Study.

ERIC Educational Resources Information Center

Luthar, Suniya S.; Cushing, Gretta

1997-01-01

Associations between substance abuse and emotional and behavioral adjustment were examined in a two-wave longitudinal design for 138 inner-city ninth graders. Drug use showed associations in expected directions with all indices of adjustment except for peer-related sociability. Implications for interventions are discussed. (SLD)

Evidence for social working memory from a parametric functional MRI study.

PubMed

Meyer, Meghan L; Spunt, Robert P; Berkman, Elliot T; Taylor, Shelley E; Lieberman, Matthew D

2012-02-07

Keeping track of various amounts of social cognitive information, including people's mental states, traits, and relationships, is fundamental to navigating social interactions. However, to date, no research has examined which brain regions support variable amounts of social information processing ("social load"). We developed a social working memory paradigm to examine the brain networks sensitive to social load. Two networks showed linear increases in activation as a function of increasing social load: the medial frontoparietal regions implicated in social cognition and the lateral frontoparietal system implicated in nonsocial forms of working memory. Of these networks, only load-dependent medial frontoparietal activity was associated with individual differences in social cognitive ability (trait perspective-taking). Although past studies of nonsocial load have uniformly found medial frontoparietal activity decreases with increasing task demands, the current study demonstrates these regions do support increasing mental effort when such effort engages social cognition. Implications for the etiology of clinical disorders that implicate social functioning and potential interventions are discussed.

Contributions of Function-Altering Variants in Genes Implicated in Pubertal Timing and Body Mass for Self-Limited Delayed Puberty.

PubMed

Howard, Sasha R; Guasti, Leonardo; Poliandri, Ariel; David, Alessia; Cabrera, Claudia P; Barnes, Michael R; Wehkalampi, Karoliina; O'Rahilly, Stephen; Aiken, Catherine E; Coll, Anthony P; Ma, Marcella; Rimmington, Debra; Yeo, Giles S H; Dunkel, Leo

2018-02-01

Self-limited delayed puberty (DP) is often associated with a delay in physical maturation, but although highly heritable the causal genetic factors remain elusive. Genome-wide association studies of the timing of puberty have identified multiple loci for age at menarche in females and voice break in males, particularly in pathways controlling energy balance. We sought to assess the contribution of rare variants in such genes to the phenotype of familial DP. We performed whole-exome sequencing in 67 pedigrees (125 individuals with DP and 35 unaffected controls) from our unique cohort of familial self-limited DP. Using a whole-exome sequencing filtering pipeline one candidate gene [fat mass and obesity-associated gene (FTO)] was identified. In silico, in vitro, and mouse model studies were performed to investigate the pathogenicity of FTO variants and timing of puberty in FTO+/- mice. We identified potentially pathogenic, rare variants in genes in linkage disequilibrium with genome-wide association studies of age at menarche loci in 283 genes. Of these, five genes were implicated in the control of body mass. After filtering for segregation with trait, one candidate, FTO, was retained. Two FTO variants, found in 14 affected individuals from three families, were also associated with leanness in these patients with DP. One variant (p.Leu44Val) demonstrated altered demethylation activity of the mutant protein in vitro. Fto+/- mice displayed a significantly delayed timing of pubertal onset (P < 0.05). Mutations in genes implicated in body mass and timing of puberty in the general population may contribute to the pathogenesis of self-limited DP. Copyright © 2017 Endocrine Society

Genetics of attention deficit hyperactivity disorder.

PubMed

Faraone, Stephen V; Larsson, Henrik

2018-06-11

Decades of research show that genes play an vital role in the etiology of attention deficit hyperactivity disorder (ADHD) and its comorbidity with other disorders. Family, twin, and adoption studies show that ADHD runs in families. ADHD's high heritability of 74% motivated the search for ADHD susceptibility genes. Genetic linkage studies show that the effects of DNA risk variants on ADHD must, individually, be very small. Genome-wide association studies (GWAS) have implicated several genetic loci at the genome-wide level of statistical significance. These studies also show that about a third of ADHD's heritability is due to a polygenic component comprising many common variants each having small effects. From studies of copy number variants we have also learned that the rare insertions or deletions account for part of ADHD's heritability. These findings have implicated new biological pathways that may eventually have implications for treatment development.

Genome-wide association analyses of child genotype effects and parent-of-origin effects in specific language impairment.

PubMed

Nudel, R; Simpson, N H; Baird, G; O'Hare, A; Conti-Ramsden, G; Bolton, P F; Hennessy, E R; Ring, S M; Davey Smith, G; Francks, C; Paracchini, S; Monaco, A P; Fisher, S E; Newbury, D F

2014-04-01

Specific language impairment (SLI) is a neurodevelopmental disorder that affects linguistic abilities when development is otherwise normal. We report the results of a genome-wide association study of SLI which included parent-of-origin effects and child genotype effects and used 278 families of language-impaired children. The child genotype effects analysis did not identify significant associations. We found genome-wide significant paternal parent-of-origin effects on chromosome 14q12 (P = 3.74 × 10(-8)) and suggestive maternal parent-of-origin effects on chromosome 5p13 (P = 1.16 × 10(-7)). A subsequent targeted association of six single-nucleotide-polymorphisms (SNPs) on chromosome 5 in 313 language-impaired individuals and their mothers from the ALSPAC cohort replicated the maternal effects, albeit in the opposite direction (P = 0.001); as fathers' genotypes were not available in the ALSPAC study, the replication analysis did not include paternal parent-of-origin effects. The paternally-associated SNP on chromosome 14 yields a non-synonymous coding change within the NOP9 gene. This gene encodes an RNA-binding protein that has been reported to be significantly dysregulated in individuals with schizophrenia. The region of maternal association on chromosome 5 falls between the PTGER4 and DAB2 genes, in a region previously implicated in autism and ADHD. The top SNP in this association locus is a potential expression QTL of ARHGEF19 (also called WGEF) on chromosome 1. Members of this protein family have been implicated in intellectual disability. In summary, this study implicates parent-of-origin effects in language impairment, and adds an interesting new dimension to the emerging picture of shared genetic etiology across various neurodevelopmental disorders. © 2014 The Authors. Genes, Brain and Behavior published by International Behavioural and Neural Genetics Society and John Wiley & Sons Ltd.

Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure underpinning obesity

PubMed Central

Turcot, Valérie; Lu, Yingchang; Highland, Heather M; Schurmann, Claudia; Justice, Anne E; Fine, Rebecca S; Bradfield, Jonathan P; Esko, Tõnu; Giri, Ayush; Graff, Mariaelisa; Guo, Xiuqing; Hendricks, Audrey E; Karaderi, Tugce; Lempradl, Adelheid; Locke, Adam E; Mahajan, Anubha; Marouli, Eirini; Sivapalaratnam, Suthesh; Young, Kristin L; Alfred, Tamuno; Feitosa, Mary F; Masca, Nicholas GD; Manning, Alisa K; Medina-Gomez, Carolina; Mudgal, Poorva; Ng, Maggie CY; Reiner, Alex P; Vedantam, Sailaja; Willems, Sara M; Winkler, Thomas W; Abecasis, Goncalo; Aben, Katja K; Alam, Dewan S; Alharthi, Sameer E; Allison, Matthew; Amouyel, Philippe; Asselbergs, Folkert W; Auer, Paul L; Balkau, Beverley; Bang, Lia E; Barroso, Inês; Bastarache, Lisa; Benn, Marianne; Bergmann, Sven; Bielak, Lawrence F; Blüher, Matthias; Boehnke, Michael; Boeing, Heiner; Boerwinkle, Eric; Böger, Carsten A; Bork-Jensen, Jette; Bots, Michiel L; Bottinger, Erwin P; Bowden, Donald W; Brandslund, Ivan; Breen, Gerome; Brilliant, Murray H; Broer, Linda; Brumat, Marco; Burt, Amber A; Butterworth, Adam S; Campbell, Peter T; Cappellani, Stefania; Carey, David J; Catamo, Eulalia; Caulfield, Mark J; Chambers, John C; Chasman, Daniel I; Chen, Yii-Der Ida; Chowdhury, Rajiv; Christensen, Cramer; Chu, Audrey Y; Cocca, Massimiliano; Collins, Francis S; Cook, James P; Corley, Janie; Galbany, Jordi Corominas; Cox, Amanda J; Crosslin, David S; Cuellar-Partida, Gabriel; D'Eustacchio, Angela; Danesh, John; Davies, Gail; de Bakker, Paul IW; de Groot, Mark CH; de Mutsert, Renée; Deary, Ian J; Dedoussis, George; Demerath, Ellen W; den Heijer, Martin; den Hollander, Anneke I; den Ruijter, Hester M; Dennis, Joe G; Denny, Josh C; Di Angelantonio, Emanuele; Drenos, Fotios; Du, Mengmeng; Dubé, Marie-Pierre; Dunning, Alison M; Easton, Douglas F; Edwards, Todd L; Ellinghaus, David; Ellinor, Patrick T; Elliott, Paul; Evangelou, Evangelos; Farmaki, Aliki-Eleni; Farooqi, I. Sadaf; Faul, Jessica D; Fauser, Sascha; Feng, Shuang; Ferrannini, Ele; Ferrieres, Jean; Florez, Jose C; Ford, Ian; Fornage, Myriam; Franco, Oscar H; Franke, Andre; Franks, Paul W; Friedrich, Nele; Frikke-Schmidt, Ruth; Galesloot, Tessel E.; Gan, Wei; Gandin, Ilaria; Gasparini, Paolo; Gibson, Jane; Giedraitis, Vilmantas; Gjesing, Anette P; Gordon-Larsen, Penny; Gorski, Mathias; Grabe, Hans-Jörgen; Grant, Struan FA; Grarup, Niels; Griffiths, Helen L; Grove, Megan L; Gudnason, Vilmundur; Gustafsson, Stefan; Haessler, Jeff; Hakonarson, Hakon; Hammerschlag, Anke R; Hansen, Torben; Harris, Kathleen Mullan; Harris, Tamara B; Hattersley, Andrew T; Have, Christian T; Hayward, Caroline; He, Liang; Heard-Costa, Nancy L; Heath, Andrew C; Heid, Iris M; Helgeland, Øyvind; Hernesniemi, Jussi; Hewitt, Alex W; Holmen, Oddgeir L; Hovingh, G Kees; Howson, Joanna MM; Hu, Yao; Huang, Paul L; Huffman, Jennifer E; Ikram, M Arfan; Ingelsson, Erik; Jackson, Anne U; Jansson, Jan-Håkan; Jarvik, Gail P; Jensen, Gorm B; Jia, Yucheng; Johansson, Stefan; Jørgensen, Marit E; Jørgensen, Torben; Jukema, J Wouter; Kahali, Bratati; Kahn, René S; Kähönen, Mika; Kamstrup, Pia R; Kanoni, Stavroula; Kaprio, Jaakko; Karaleftheri, Maria; Kardia, Sharon LR; Karpe, Fredrik; Kathiresan, Sekar; Kee, Frank; Kiemeney, Lambertus A; Kim, Eric; Kitajima, Hidetoshi; Komulainen, Pirjo; Kooner, Jaspal S; Kooperberg, Charles; Korhonen, Tellervo; Kovacs, Peter; Kuivaniemi, Helena; Kutalik, Zoltán; Kuulasmaa, Kari; Kuusisto, Johanna; Laakso, Markku; Lakka, Timo A; Lamparter, David; Lange, Ethan M; Lange, Leslie A; Langenberg, Claudia; Larson, Eric B; Lee, Nanette R; Lehtimäki, Terho; Lewis, Cora E; Li, Huaixing; Li, Jin; Li-Gao, Ruifang; Lin, Honghuang; Lin, Keng-Hung; Lin, Li-An; Lin, Xu; Lind, Lars; Lindström, Jaana; Linneberg, Allan; Liu, Ching-Ti; Liu, Dajiang J; Liu, Yongmei; Lo, Ken Sin; Lophatananon, Artitaya; Lotery, Andrew J; Loukola, Anu; Luan, Jian'an; Lubitz, Steven A; Lyytikäinen, Leo-Pekka; Männistö, Satu; Marenne, Gaëlle; Mazul, Angela L; McCarthy, Mark I; McKean-Cowdin, Roberta; Medland, Sarah E; Meidtner, Karina; Milani, Lili; Mistry, Vanisha; Mitchell, Paul; Mohlke, Karen L; Moilanen, Leena; Moitry, Marie; Montgomery, Grant W; Mook-Kanamori, Dennis O; Moore, Carmel; Mori, Trevor A; Morris, Andrew D; Morris, Andrew P; Müller-Nurasyid, Martina; Munroe, Patricia B; Nalls, Mike A; Narisu, Narisu; Nelson, Christopher P; Neville, Matt; Nielsen, Sune F; Nikus, Kjell; Njølstad, Pål R; Nordestgaard, Børge G; Nyholt, Dale R; O'Connel, Jeffrey R; O’Donoghue, Michelle L.; Olde Loohuis, Loes M; Ophoff, Roel A; Owen, Katharine R; Packard, Chris J; Padmanabhan, Sandosh; Palmer, Colin NA; Palmer, Nicholette D; Pasterkamp, Gerard; Patel, Aniruddh P; Pattie, Alison; Pedersen, Oluf; Peissig, Peggy L; Peloso, Gina M; Pennell, Craig E; Perola, Markus; Perry, James A; Perry, John RB; Pers, Tune H; Person, Thomas N; Peters, Annette; Petersen, Eva RB; Peyser, Patricia A; Pirie, Ailith; Polasek, Ozren; Polderman, Tinca J; Puolijoki, Hannu; Raitakari, Olli T; Rasheed, Asif; Rauramaa, Rainer; Reilly, Dermot F; Renström, Frida; Rheinberger, Myriam; Ridker, Paul M; Rioux, John D; Rivas, Manuel A; Roberts, David J; Robertson, Neil R; Robino, Antonietta; Rolandsson, Olov; Rudan, Igor; Ruth, Katherine S; Saleheen, Danish; Salomaa, Veikko; Samani, Nilesh J; Sapkota, Yadav; Sattar, Naveed; Schoen, Robert E; Schreiner, Pamela J; Schulze, Matthias B; Scott, Robert A; Segura-Lepe, Marcelo P; Shah, Svati H; Sheu, Wayne H-H; Sim, Xueling; Slater, Andrew J; Small, Kerrin S; Smith, Albert Vernon; Southam, Lorraine; Spector, Timothy D; Speliotes, Elizabeth K; Starr, John M; Stefansson, Kari; Steinthorsdottir, Valgerdur; Stirrups, Kathleen E; Strauch, Konstantin; Stringham, Heather M; Stumvoll, Michael; Sun, Liang; Surendran, Praveen; Swift, Amy J; Tada, Hayato; Tansey, Katherine E; Tardif, Jean-Claude; Taylor, Kent D; Teumer, Alexander; Thompson, Deborah J; Thorleifsson, Gudmar; Thorsteinsdottir, Unnur; Thuesen, Betina H; Tönjes, Anke; Tromp, Gerard; Trompet, Stella; Tsafantakis, Emmanouil; Tuomilehto, Jaakko; Tybjaerg-Hansen, Anne; Tyrer, Jonathan P; Uher, Rudolf; Uitterlinden, André G; Uusitupa, Matti; van der Laan, Sander W; van Duijn, Cornelia M; van Leeuwen, Nienke; van Setten, Jessica; Vanhala, Mauno; Varbo, Anette; Varga, Tibor V; Varma, Rohit; Velez Edwards, Digna R; Vermeulen, Sita H; Veronesi, Giovanni; Vestergaard, Henrik; Vitart, Veronique; Vogt, Thomas F; Völker, Uwe; Vuckovic, Dragana; Wagenknecht, Lynne E; Walker, Mark; Wallentin, Lars; Wang, Feijie; Wang, Carol A; Wang, Shuai; Wang, Yiqin; Ware, Erin B; Wareham, Nicholas J; Warren, Helen R; Waterworth, Dawn M; Wessel, Jennifer; White, Harvey D; Willer, Cristen J; Wilson, James G; Witte, Daniel R; Wood, Andrew R; Wu, Ying; Yaghootkar, Hanieh; Yao, Jie; Yao, Pang; Yerges-Armstrong, Laura M; Young, Robin; Zeggini, Eleftheria; Zhan, Xiaowei; Zhang, Weihua; Zhao, Jing Hua; Zhao, Wei; Zhao, Wei; Zhou, Wei; Zondervan, Krina T; Rotter, Jerome I; Pospisilik, John A; Rivadeneira, Fernando; Borecki, Ingrid B; Deloukas, Panos; Frayling, Timothy M; Lettre, Guillaume; North, Kari E; Lindgren, Cecilia M; Hirschhorn, Joel N; Loos, Ruth JF

2018-01-01

Genome-wide association studies (GWAS) have identified >250 loci for body mass index (BMI), implicating pathways related to neuronal biology. Most GWAS loci represent clusters of common, non-coding variants from which pinpointing causal genes remains challenging. Here, we combined data from 718,734 individuals to discover rare and low-frequency (MAF<5%) coding variants associated with BMI. We identified 14 coding variants in 13 genes, of which eight in genes (ZBTB7B, ACHE, RAPGEF3, RAB21, ZFHX3, ENTPD6, ZFR2, ZNF169) newly implicated in human obesity, two (MC4R, KSR2) previously observed in extreme obesity, and two variants in GIPR. Effect sizes of rare variants are ~10 times larger than of common variants, with the largest effect observed in carriers of an MC4R stop-codon (p.Tyr35Ter, MAF=0.01%), weighing ~7kg more than non-carriers. Pathway analyses confirmed enrichment of neuronal genes and provide new evidence for adipocyte and energy expenditure biology, widening the potential of genetically-supported therapeutic targets to treat obesity. PMID:29273807

Quantifying the Impact of Floods on Bacillary Dysentery in Dalian City, China, From 2004 to 2010.

PubMed

Xu, Xin; Ding, Guoyong; Zhang, Ying; Liu, Zhidong; Liu, Qiyong; Jiang, Baofa

2017-04-01

Studies quantifying relationships between floods and diarrheal diseases have mainly been conducted in low-latitude regions. It's therefore increasingly important to examine these relationships in midlatitude regions, where they may have significant public health implications. This study aimed to examine the association between floods and bacillary dysentery in the city of Dalian, China. A generalized additive mixed model was applied to examine the association between floods and bacillary dysentery. The relative risk (RR) of flood impact on bacillary dysentery was estimated. A total of 18,976 cases of bacillary dysentery were reported in Dalian during the study period. Two weeks' lagged effect was detected from the impact of floods on bacillary dysentery. The RR of flood impact on bacillary dysentery was 1.17 (95% CI: 1.03-1.33). Floods have significantly increased the risk of bacillary dysentery in Dalian. More studies should focus on the association between floods and infectious diseases in different regions. Our findings have significant implications for managing the negative health impact of floods in the midlatitude region of China. (Disaster Med Public Health Preparedness. 2017;11:190-195).

Gay-Straight Alliances, Social Justice Involvement, and School Victimization of Lesbian, Gay, Bisexual, and Queer Youth: Implications for School Well-Being and Plans to Vote

PubMed Central

Toomey, Russell B.; Russell, Stephen T.

2015-01-01

Few studies have investigated school-based, positive development for lesbian, gay, bisexual, and queer (LGBQ) youth, despite knowledge of their heightened negative school experiences compared to heterosexual youth (e.g., school victimization). This study examines associations among participation in Gay-Straight Alliance (GSA)–related social justice activities, GSA presence, and GSA membership with victimization based on sexual orientation and school-based well-being (i.e., school safety, school belongingness, grade point average [GPA]) and future plans to vote. Using data from the Preventing School Harassment Study, a survey of 230 LGBQ students in 7th through 12th grades, the study finds that participation in GSA-related social justice activities and the presence of a GSA are positively associated with school belongingness and GPA. GSA membership is also positively associated with school belongingness. However, moderation analyses suggest that the positive benefits of GSA-related social justice involvement and the presence of a GSA dissipate at high levels of school victimization. Implications for schools are discussed. PMID:26224893

Intelligence: shared genetic basis between Mendelian disorders and a polygenic trait.

PubMed

Franić, Sanja; Groen-Blokhuis, Maria M; Dolan, Conor V; Kattenberg, Mathijs V; Pool, René; Xiao, Xiangjun; Scheet, Paul A; Ehli, Erik A; Davies, Gareth E; van der Sluis, Sophie; Abdellaoui, Abdel; Hansell, Narelle K; Martin, Nicholas G; Hudziak, James J; van Beijsterveldt, Catherina E M; Swagerman, Suzanne C; Hulshoff Pol, Hilleke E; de Geus, Eco J C; Bartels, Meike; Ropers, H Hilger; Hottenga, Jouke-Jan; Boomsma, Dorret I

2015-10-01

Multiple inquiries into the genetic etiology of human traits indicated an overlap between genes underlying monogenic disorders (eg, skeletal growth defects) and those affecting continuous variability of related quantitative traits (eg, height). Extending the idea of a shared genetic basis between a Mendelian disorder and a classic polygenic trait, we performed an association study to examine the effect of 43 genes implicated in autosomal recessive cognitive disorders on intelligence in an unselected Dutch population (N=1316). Using both single-nucleotide polymorphism (SNP)- and gene-based association testing, we detected an association between intelligence and the genes of interest, with genes ELP2, TMEM135, PRMT10, and RGS7 showing the strongest associations. This is a demonstration of the relevance of genes implicated in monogenic disorders of intelligence to normal-range intelligence, and a corroboration of the utility of employing knowledge on monogenic disorders in identifying the genetic variability underlying complex traits.

Being out at school: the implications for school victimization and young adult adjustment.

PubMed

Russell, Stephen T; Toomey, Russell B; Ryan, Caitlin; Diaz, Rafael M

2014-11-01

Many lesbian, gay, bisexual, and transgender (LGBT) adolescents disclose their sexual and/or gender identities to peers at school. Disclosure of LGBT status is linked with positive psychosocial adjustment for adults; however, for adolescents, "coming out" has been linked to school victimization, which in turn is associated with negative adjustment. This study investigates the associations among adolescent disclosure of LGBT status to others at school, school victimization, and young adult psychosocial adjustment using a sample of 245 LGBT young adults (aged 21-25 years, living in California). After accounting for the association between school victimization and later adjustment, being out at high school was associated with positive psychosocial adjustment in young adulthood. Results have significant implications for training of school-based health and mental health providers, education and guidance for parents and caregivers, fostering positive development of LGBT youth, and developing informed school policies and educational practices. (c) 2014 APA, all rights reserved.

Cancer heterogeneity: origins and implications for genetic association studies

PubMed Central

Urbach, Davnah; Lupien, Mathieu; Karagas, Margaret R.; Moore, Jason H.

2012-01-01

Genetic association studies have become standard approaches to characterize the genetic and epigenetic variability associated with cancer development, including predispositions and mutations. However, the bewildering genetic and phenotypic heterogeneity inherent in cancer both magnifies the conceptual and methodological problems associated with these approaches and renders the translation of available genetic information into a knowledge that is both biologically sound and clinically relevant difficult. Here, we elaborate on the underlying causes of this complexity, illustrate why it represents a challenge for genetic association studies, and briefly discuss how it can be reconciled with the ultimate goal of identifying targetable disease pathways and successfully treating individual patients. PMID:22858414

Depressive episode characteristics and subsequent recurrence risk.

PubMed

Patten, Scott B; Williams, Jeanne V A; Lavorato, Dina H; Bulloch, Andrew G M; MacQueen, Glenda

2012-11-01

Clinical practice guidelines increasingly recognize the heterogeneity associated with major depressive episodes (MDE), e.g. through strategies such as watchful waiting. However, the implications of episode heterogeneity for long-term prognosis have not been adequately explored. In this project, we used data from a Canadian longitudinal study to evaluate recurrence risks for MDE after an initial episode in the mid-1990s. This study collected data from a community cohort between 1994/1995 and 2008/2009 using biannual interviews. Characteristics of the index episode: syndromal versus sub-syndromal, duration of symptoms, and indicators of seriousness (activity restriction, high distress or suicidal ideation) were recorded. The ability of these variables to predict MDE recurrence was explored using proportional hazards modeling. Additional analyses using generalized estimating equations were used to assess robustness. Even brief, sub-syndromal episodes not characterized by indicators of seriousness were associated with an increased risk of subsequent MDE. However, episodes meeting diagnostic criteria for MDE, those lasting longer than four weeks and those associated with indicators of seriousness were associated with much higher recurrence risk. Sub-syndromal episodes associated with these characteristics generally predicted subsequent MDE as strongly as the occurrence of MDE itself. The data source did not include assessment of all potentially relevant covariates. The assessment of MDE used an abbreviated instrument. Brief sub-syndromal episodes of depression are not usually targets of acute treatment, but such episodes have implications for subsequent MDE risk. Episode characteristics identify a range of outcomes that have potential implications for long-term management. Copyright © 2012 Elsevier B.V. All rights reserved.

Is mindfulness associated with stress and burnout among mental health professionals in Singapore?

PubMed

Yang, Suyi; Meredith, Pamela; Khan, Asaduzzaman

2017-07-01

High levels of stress and burnout have been reported among mental health professionals worldwide, including Singapore, with concerning potential implications for the quality of patient care. Mindfulness has been associated with decreased stress and burnout; however, associations between mindfulness, stress, and burnout have not been examined in Singapore. The aim of this study was to investigate whether mindfulness is associated with stress and burnout among healthcare professionals working in a mental health setting in Singapore. A total of 224 Singaporean mental health professionals completed a cross-sectional survey which included measures of: mindfulness (observe, describe, act with awareness, non-judge, and non-react), stress, and burnout (exhaustion and disengagement). Using multiple regression, significant negative associations were found between each of the mindfulness facets and: stress, exhaustion, and disengagement, while controlling for years of experience. Of the five mindfulness facets, act with awareness demonstrated the strongest negative association with all three variables. This study showed that mental health professionals in Singapore who have higher levels of mindfulness also have lower levels stress and burnout (disengagement and exhaustion). Future longitudinal research is warranted to better understand the directionality of these associations, with implications for the development of interventions aimed to reduce stress and burnout within this population.

Postnatal paternal depressive symptoms associated with fathers' subsequent parenting: findings from the Millennium Cohort Study.

PubMed

Nath, Selina; Russell, Ginny; Ford, Tamsin; Kuyken, Willem; Psychogiou, Lamprini

2015-12-01

Impaired parenting may lie on the causal pathway between paternal depression and children's outcomes. We use the first four surveys of the Millennium Cohort Study to investigate the association between paternal depressive symptoms and fathers' parenting (negative, positive and involvement). Findings suggest that postnatal paternal depressive symptoms are associated with fathers' negative parenting. This has implications for the design of intervention programmes for parents with depression and young children. © The Royal College of Psychiatrists 2015.

Medical response planning for pandemic flu.

PubMed

Harrison, Jeffrey P; Bukhari, Syed Zeeshan Haider; Harrison, Richard A

2010-01-01

This quantitative research study evaluates the health care infrastructure necessary to provide medical care in US hospitals during a flu pandemic. These hospitals are identified within the US health care system because they operate airborne infectious isolation rooms. Data were obtained from the 2006 American Hospital Association annual survey. This data file provides essential information on individual US hospitals and identifies the health care capabilities in US communities. Descriptive statistics were evaluated to examine hospitals with the appropriate infrastructure to treat a flu pandemic. In addition, geographic information system software was used to identify geographic areas where essential infrastructure is lacking. The study found 3,341 US hospitals operate airborne infectious isolation rooms, representing 69% of reporting hospitals. The results also indicate that those hospitals with airborne infectious isolation rooms are larger and are located in metropolitan areas. The study has managerial implications associated with local medical disaster response and policy implications on the allocation of disaster resources.

The Neuropsychology of Risky Sexual Behavior.

PubMed

Ross, J Megan; Duperrouzel, Jacqueline; Vega, Melanie; Gonzalez, Raul

2016-07-01

Engagement in risky sexual behavior (RSB) is a significant public health concern. A growing body of literature is elucidating the role of brain systems and neuropsychological constructs implicated in RSB, which may pave the way for novel insights and prevention efforts. In this article, we review studies incorporating neuropsychology into the study of RSB across the lifespan. The review of the literature on the neuropsychology of RSB is separated into three different sections by age of participants. Background is presented on research associating RSB with neurocognitive processes and the brain systems involved. Given the overlap between RSBs and substance use, studies addressing these problems in tandem are also discussed. Neurocognitive constructs are implicated in RSB, including impulsivity, decision-making, and working memory. Thus far, evidence suggest that neuropsychological factors are associated with engagement in RSB. More research on the influence of neuropsychological factors on engagement in RSB is necessary and may help inform future prevention efforts. (JINS, 2016, 22, 586-594).

Cognitive deficits and reduced insight in primary progressive aphasia.

PubMed

Banks, Sarah Jane; Weintraub, Sandra

2008-01-01

Primary progressive aphasia (PPA) is a form of dementia caused by frontotemporal lobar degeneration. Unlike aphasia due to stroke, in which the association between particular aphasia profiles and insight has been well characterized, this relationship has not been investigated in PPA. Reduced insight is seen in other neurological conditions, but tends to involve right hemisphere damage, whereas PPA is predominantly a left hemisphere disorder. The aim of the current study was to examine whether fluent aphasia with less meaningful speech output, associated with diminished insight in stroke, is also characteristic of PPA patients with reduced insight. Fourteen PPA patients were studied. Results indicated that reduced information content in speech and poor performance on a nonlanguage test, the Pyramids and Palm Trees test, predicted reduced insight. This study has implications for the anatomical network involved in insight and clinical implications in terms of selecting interventions appropriate for individual patients with PPA.

Cognitive Deficits and Reduced Insight in Primary Progressive Aphasia

PubMed Central

Banks, Sarah Jane; Weintraub, Sandra

2009-01-01

Primary progressive aphasia (PPA) is a form of dementia caused by frontotemporal lobar degeneration. Unlike aphasia due to stroke, in which the association between particular aphasia profiles and insight has been well characterized, this relationship has not been investigated in PPA. Reduced insight is seen in other neurological conditions, but tends to involve right hemisphere damage, whereas PPA is predominantly a left hemisphere disorder. The aim of the current study was to examine whether fluent aphasia with less meaningful speech output, associated with diminished insight in stroke, is also characteristic of PPA patients with reduced insight. Fourteen PPA patients were studied. Results indicated that reduced information content in speech and poor performance on a nonlanguage test, the Pyramids and Palm Trees test, predicted reduced insight. This study has implications for the anatomical network involved in insight and clinical implications in terms of selecting interventions appropriate for individual patients with PPA. PMID:18836134

Towards a New Model of LIS Competences Management in Portugal: Implications for the Praxis and Academia Studies

ERIC Educational Resources Information Center

Ochoa, Paula; Pinto, Leonor Gaspar

2008-01-01

After briefly presenting INCITE, The Portuguese Association for Information Management's, main research projects on LIS competences development and professional qualifications, this paper discusses the Association's contribution to the redesign of LIS professional competences pathways in the working environment; namely the movement from a pilot…

Nitric Oxide and Superoxide Mediate Diesel Particle Effects in Cytokine-Treated Mice and Murine Lung Epithelial Cells ─ Implications for Susceptibility to Traffic-Related Air Pollution

EPA Science Inventory

Abstract Background: Epidemiologic studies associate childhood exposure to traffic-related air pollution with increased respiratory infections and asthmatic and allergic symptoms. The strongest associations between traffic exposure and negative health impacts are observed in in...

Associations between Peer Harassment and School Risk and Protection Profiles

ERIC Educational Resources Information Center

Gloppen, Kari M.; Gower, Amy L.; McMorris, Barbara J.; Eisenberg, Marla E.

2017-01-01

Background: Peer harassment can have serious implications for students' success and well-being, and prevention programs need to consider the school context. This study aimed to: (1) identify groups of similar schools based on their risk and protective factors and demographic characteristics and (2) examine associations between school profiles and…

Evaluation of the expression of genes associated with resistance to Aspergillus flavus colonization and aflatoxin production in different maize lines

USDA-ARS?s Scientific Manuscript database

Aflatoxins are carcinogenic toxic compounds produced by Aspergillus flavus during infection of crops including maize (Zea mays L.). Contamination of maize with aflatoxin is exacerbated by late season drought stress. Previous studies have implicated numerous resistance-associated proteins (RAPs) that...

Are Approaches to Learning in Kindergarten Associated with Academic and Social Competence Similarly?

ERIC Educational Resources Information Center

Razza, Rachel A.; Martin, Anne; Brooks-Gunn, Jeanne

2015-01-01

Background: Approaches to learning (ATL) is a key domain of school readiness with important implications for children's academic trajectories. Interestingly, however, the impact of early ATL on children's social competence has not been examined. Objective: This study examines associations between children's ATL at age 5 and academic achievement…

The Role of Racial Identity and Implicit Racial Bias in Self-Reported Racial Discrimination: Implications for Depression Among African American Men.

PubMed

Chae, David H; Powell, Wizdom A; Nuru-Jeter, Amani M; Smith-Bynum, Mia A; Seaton, Eleanor K; Forman, Tyrone A; Turpin, Rodman; Sellers, Robert

2017-01-01

Racial discrimination is conceptualized as a psychosocial stressor that has negative implications for mental health. However, factors related to racial identity may influence whether negative experiences are interpreted as instances of racial discrimination and subsequently reported as such in survey instruments, particularly given the ambiguous nature of contemporary racism. Along these lines, dimensions of racial identity may moderate associations between racial discrimination and mental health outcomes. This study examined relationships between racial discrimination, racial identity, implicit racial bias, and depressive symptoms among African American men between 30 and 50 years of age ( n = 95). Higher racial centrality was associated with greater reports of racial discrimination, while greater implicit anti-Black bias was associated with lower reports of racial discrimination. In models predicting elevated depressive symptoms, holding greater implicit anti-Black bias in tandem with reporting lower racial discrimination was associated with the highest risk. Results suggest that unconscious as well as conscious processes related to racial identity are important to consider in measuring racial discrimination, and should be integrated in studies of racial discrimination and mental health.

Does mothers' employment affect adolescents' weight and activity levels? Improving our empirical estimates.

PubMed

Martin, Molly A; Lippert, Adam M; Chandler, Kelly D; Lemmon, Megan

2018-04-01

Women's lives are marked by complex work and family routines - routines that have implications for their children's health. Prior research suggests a link between mothers' work hours and their children's weight, but few studies investigate the child health implications of increasingly common work arrangements, such as telecommuting and flexible work schedules. We examine whether changes in mothers' work arrangements are associated with changes in adolescents' weight, physical activity, and sedentary behavior using longitudinal data and fixed effects models to better account for mothers' social selection in to different work arrangements and children's underlying preferences. With data from the National Longitudinal Study of Adolescent to Adult Health ( N = 10,518), we find that changes in mothers' work arrangements are not significantly associated with adolescents' weight gain or physical activity but are significantly associated with adolescents' sedentary behavior. Adolescents' sedentary behavior declines when mothers become more available after school and increases when mothers work more hours or become unemployed. In sum, after accounting for unobserved, stable traits, including mothers' selection into jobs with more or less flexibility, mothers' work arrangements are most strongly associated with adolescents' sedentary behavior.

Factors associated with the persuasiveness of direct-to-consumer advertising on HPV vaccination among young women.

PubMed

Manika, Danae; Ball, Jennifer G; Stout, Patricia A

2014-01-01

This quantitative study explored young women's response to direct-to-consumer pharmaceutical advertising (DTCA) for a human papillomavirus (HPV) vaccine. In particular, the study examined (a) the association of factors stemming from consumer research with actual and intended behavioral responses to DTCA for HPV and (b) key elements drawn from commonly used health-related theories to determine the strongest associations with behavioral intentions regarding the HPV vaccine. Survey findings showed that vaccinated women indicated that DTCA played a role in their decision to get vaccinated against HPV more so than those who were not vaccinated. Trust in DTCA for an HPV vaccine brand was significantly related to intentions to seek more information about the vaccine. Also, perceived barriers had the only significant association with behavioral intentions when taking into account perceived threat and response efficacy. These results provide practical implications for key industry decision makers and health communication professionals on the design of effective theory-based health communication message content for an HPV vaccine brand with consequent social implications.

Teacher-student relationship climate and school outcomes: implications for educational policy initiatives.

PubMed

Barile, John P; Donohue, Dana K; Anthony, Elizabeth R; Baker, Andrew M; Weaver, Scott R; Henrich, Christopher C

2012-03-01

In recent discussions regarding concerns about the academic achievement of US students, educational policy makers have suggested the implementation of certain teacher policies. To address the limited empirical research on the putative educational impact of such policies, this study used multilevel structural equation models to investigate the longitudinal associations between teacher evaluation and reward policies, and student mathematics achievement and dropout with a national sample of students (n = 7,779) attending one of 431 public high schools. The student sample included an equal number of boys and girls averaging 16 years of age, and included a White (53%) majority. This study examined whether associations between teacher policies and student achievement were mediated by the teacher-student relationship climate. Results of this study were threefold. First, teacher evaluation policies that allowed students to evaluate their teachers were associated with more positive student reports of the classroom teaching climate. Second, schools with teacher reward policies that included assigning higher performing teachers with higher performing students had a negative association with student perceptions of the teaching climate. Lastly, schools with better student perceptions of the teaching climate were associated with lower student dropout rates by students' senior year. These findings are discussed in light of their educational policy implications.

Trait Approach and Avoidance Motivation: Lateralized Neural Activity Associated with Executive Function

PubMed Central

Spielberg, Jeffrey M.; Miller, Gregory A.; Engels, Anna S.; Herrington, John D.; Sutton, Bradley P.; Banich, Marie T.; Heller, Wendy

2010-01-01

Motivation and executive function are both necessary for the completion of goal-directed behavior. Research investigating the manner in which these processes interact is beginning to emerge and has implicated middle frontal gyrus (MFG) as a site of interaction for relevant neural mechanisms. However, this research has focused on state motivation, and it has not examined functional lateralization. The present study examined the impact of trait levels of approach and avoidance motivation on neural processes associated with executive function. Functional magnetic resonance imaging was conducted while participants performed a color-word Stroop task. Analyses identified brain regions in which trait approach and avoidance motivation (measured by questionnaires) moderated activation associated with executive control. Approach was hypothesized to be associated with left-lateralized MFG activation, whereas avoidance was hypothesized to be associated with right-lateralized MFG activation. Results supported both hypotheses. Present findings implicate areas of middle frontal gyrus in top-down control to guide behavior in accordance with motivational goals. PMID:20728552

Trait approach and avoidance motivation: lateralized neural activity associated with executive function.

PubMed

Spielberg, Jeffrey M; Miller, Gregory A; Engels, Anna S; Herrington, John D; Sutton, Bradley P; Banich, Marie T; Heller, Wendy

2011-01-01

Motivation and executive function are both necessary for the completion of goal-directed behavior. Research investigating the manner in which these processes interact is beginning to emerge and has implicated middle frontal gyrus (MFG) as a site of interaction for relevant neural mechanisms. However, this research has focused on state motivation, and it has not examined functional lateralization. The present study examined the impact of trait levels of approach and avoidance motivation on neural processes associated with executive function. Functional magnetic resonance imaging was conducted while participants performed a color-word Stroop task. Analyses identified brain regions in which trait approach and avoidance motivation (measured by questionnaires) moderated activation associated with executive control. Approach was hypothesized to be associated with left-lateralized MFG activation, whereas avoidance was hypothesized to be associated with right-lateralized MFG activation. Results supported both hypotheses. Present findings implicate areas of middle frontal gyrus in top-down control to guide behavior in accordance with motivational goals. Copyright © 2010 Elsevier Inc. All rights reserved.

Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies

PubMed Central

2014-01-01

Summary Background The epilepsies are a clinically heterogeneous group of neurological disorders. Despite strong evidence for heritability, genome-wide association studies have had little success in identification of risk loci associated with epilepsy, probably because of relatively small sample sizes and insufficient power. We aimed to identify risk loci through meta-analyses of genome-wide association studies for all epilepsy and the two largest clinical subtypes (genetic generalised epilepsy and focal epilepsy). Methods We combined genome-wide association data from 12 cohorts of individuals with epilepsy and controls from population-based datasets. Controls were ethnically matched with cases. We phenotyped individuals with epilepsy into categories of genetic generalised epilepsy, focal epilepsy, or unclassified epilepsy. After standardised filtering for quality control and imputation to account for different genotyping platforms across sites, investigators at each site conducted a linear mixed-model association analysis for each dataset. Combining summary statistics, we conducted fixed-effects meta-analyses of all epilepsy, focal epilepsy, and genetic generalised epilepsy. We set the genome-wide significance threshold at p<1·66 × 10−8. Findings We included 8696 cases and 26 157 controls in our analysis. Meta-analysis of the all-epilepsy cohort identified loci at 2q24.3 (p=8·71 × 10−10), implicating SCN1A, and at 4p15.1 (p=5·44 × 10−9), harbouring PCDH7, which encodes a protocadherin molecule not previously implicated in epilepsy. For the cohort of genetic generalised epilepsy, we noted a single signal at 2p16.1 (p=9·99 × 10−9), implicating VRK2 or FANCL. No single nucleotide polymorphism achieved genome-wide significance for focal epilepsy. Interpretation This meta-analysis describes a new locus not previously implicated in epilepsy and provides further evidence about the genetic architecture of these disorders, with the ultimate aim of assisting in disease classification and prognosis. The data suggest that specific loci can act pleiotropically raising risk for epilepsy broadly, or can have effects limited to a specific epilepsy subtype. Future genetic analyses might benefit from both lumping (ie, grouping of epilepsy types together) or splitting (ie, analysis of specific clinical subtypes). Funding International League Against Epilepsy and multiple governmental and philanthropic agencies. PMID:25087078

Shared activity patterns arising at genetic susceptibility loci reveal underlying genomic and cellular architecture of human disease.

PubMed

Baillie, J Kenneth; Bretherick, Andrew; Haley, Christopher S; Clohisey, Sara; Gray, Alan; Neyton, Lucile P A; Barrett, Jeffrey; Stahl, Eli A; Tenesa, Albert; Andersson, Robin; Brown, J Ben; Faulkner, Geoffrey J; Lizio, Marina; Schaefer, Ulf; Daub, Carsten; Itoh, Masayoshi; Kondo, Naoto; Lassmann, Timo; Kawai, Jun; Mole, Damian; Bajic, Vladimir B; Heutink, Peter; Rehli, Michael; Kawaji, Hideya; Sandelin, Albin; Suzuki, Harukazu; Satsangi, Jack; Wells, Christine A; Hacohen, Nir; Freeman, Thomas C; Hayashizaki, Yoshihide; Carninci, Piero; Forrest, Alistair R R; Hume, David A

2018-03-01

Genetic variants underlying complex traits, including disease susceptibility, are enriched within the transcriptional regulatory elements, promoters and enhancers. There is emerging evidence that regulatory elements associated with particular traits or diseases share similar patterns of transcriptional activity. Accordingly, shared transcriptional activity (coexpression) may help prioritise loci associated with a given trait, and help to identify underlying biological processes. Using cap analysis of gene expression (CAGE) profiles of promoter- and enhancer-derived RNAs across 1824 human samples, we have analysed coexpression of RNAs originating from trait-associated regulatory regions using a novel quantitative method (network density analysis; NDA). For most traits studied, phenotype-associated variants in regulatory regions were linked to tightly-coexpressed networks that are likely to share important functional characteristics. Coexpression provides a new signal, independent of phenotype association, to enable fine mapping of causative variants. The NDA coexpression approach identifies new genetic variants associated with specific traits, including an association between the regulation of the OCT1 cation transporter and genetic variants underlying circulating cholesterol levels. NDA strongly implicates particular cell types and tissues in disease pathogenesis. For example, distinct groupings of disease-associated regulatory regions implicate two distinct biological processes in the pathogenesis of ulcerative colitis; a further two separate processes are implicated in Crohn's disease. Thus, our functional analysis of genetic predisposition to disease defines new distinct disease endotypes. We predict that patients with a preponderance of susceptibility variants in each group are likely to respond differently to pharmacological therapy. Together, these findings enable a deeper biological understanding of the causal basis of complex traits.

Shared activity patterns arising at genetic susceptibility loci reveal underlying genomic and cellular architecture of human disease

PubMed Central

Gray, Alan; Neyton, Lucile P. A.; Barrett, Jeffrey; Stahl, Eli A.; Tenesa, Albert; Andersson, Robin; Brown, J. Ben; Faulkner, Geoffrey J.; Lizio, Marina; Schaefer, Ulf; Daub, Carsten; Kondo, Naoto; Lassmann, Timo; Kawai, Jun; Kawaji, Hideya; Suzuki, Harukazu; Satsangi, Jack; Wells, Christine A.; Hacohen, Nir; Freeman, Thomas C.; Hayashizaki, Yoshihide; Forrest, Alistair R. R.; Hume, David A.

2018-01-01

Genetic variants underlying complex traits, including disease susceptibility, are enriched within the transcriptional regulatory elements, promoters and enhancers. There is emerging evidence that regulatory elements associated with particular traits or diseases share similar patterns of transcriptional activity. Accordingly, shared transcriptional activity (coexpression) may help prioritise loci associated with a given trait, and help to identify underlying biological processes. Using cap analysis of gene expression (CAGE) profiles of promoter- and enhancer-derived RNAs across 1824 human samples, we have analysed coexpression of RNAs originating from trait-associated regulatory regions using a novel quantitative method (network density analysis; NDA). For most traits studied, phenotype-associated variants in regulatory regions were linked to tightly-coexpressed networks that are likely to share important functional characteristics. Coexpression provides a new signal, independent of phenotype association, to enable fine mapping of causative variants. The NDA coexpression approach identifies new genetic variants associated with specific traits, including an association between the regulation of the OCT1 cation transporter and genetic variants underlying circulating cholesterol levels. NDA strongly implicates particular cell types and tissues in disease pathogenesis. For example, distinct groupings of disease-associated regulatory regions implicate two distinct biological processes in the pathogenesis of ulcerative colitis; a further two separate processes are implicated in Crohn’s disease. Thus, our functional analysis of genetic predisposition to disease defines new distinct disease endotypes. We predict that patients with a preponderance of susceptibility variants in each group are likely to respond differently to pharmacological therapy. Together, these findings enable a deeper biological understanding of the causal basis of complex traits. PMID:29494619

Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies

PubMed Central

Elks, Cathy E.; Perry, John R.B.; Sulem, Patrick; Chasman, Daniel I.; Franceschini, Nora; He, Chunyan; Lunetta, Kathryn L.; Visser, Jenny A.; Byrne, Enda M.; Cousminer, Diana L.; Gudbjartsson, Daniel F.; Esko, Tõnu; Feenstra, Bjarke; Hottenga, Jouke-Jan; Koller, Daniel L.; Kutalik, Zoltán; Lin, Peng; Mangino, Massimo; Marongiu, Mara; McArdle, Patrick F.; Smith, Albert V.; Stolk, Lisette; van Wingerden, Sophie W.; Zhao, Jing Hua; Albrecht, Eva; Corre, Tanguy; Ingelsson, Erik; Hayward, Caroline; Magnusson, Patrik K.E.; Smith, Erin N.; Ulivi, Shelia; Warrington, Nicole M.; Zgaga, Lina; Alavere, Helen; Amin, Najaf; Aspelund, Thor; Bandinelli, Stefania; Barroso, Ines; Berenson, Gerald S.; Bergmann, Sven; Blackburn, Hannah; Boerwinkle, Eric; Buring, Julie E.; Busonero, Fabio; Campbell, Harry; Chanock, Stephen J.; Chen, Wei; Cornelis, Marilyn C.; Couper, David; Coviello, Andrea D.; d’Adamo, Pio; de Faire, Ulf; de Geus, Eco J.C.; Deloukas, Panos; Döring, Angela; Smith, George Davey; Easton, Douglas F.; Eiriksdottir, Gudny; Emilsson, Valur; Eriksson, Johan; Ferrucci, Luigi; Folsom, Aaron R.; Foroud, Tatiana; Garcia, Melissa; Gasparini, Paolo; Geller, Frank; Gieger, Christian; Gudnason, Vilmundur; Hall, Per; Hankinson, Susan E.; Ferreli, Liana; Heath, Andrew C.; Hernandez, Dena G.; Hofman, Albert; Hu, Frank B.; Illig, Thomas; Järvelin, Marjo-Riitta; Johnson, Andrew D.; Karasik, David; Khaw, Kay-Tee; Kiel, Douglas P.; Kilpeläinen, Tuomas O.; Kolcic, Ivana; Kraft, Peter; Launer, Lenore J.; Laven, Joop S.E.; Li, Shengxu; Liu, Jianjun; Levy, Daniel; Martin, Nicholas G.; McArdle, Wendy L.; Melbye, Mads; Mooser, Vincent; Murray, Jeffrey C.; Murray, Sarah S.; Nalls, Michael A.; Navarro, Pau; Nelis, Mari; Ness, Andrew R.; Northstone, Kate; Oostra, Ben A.; Peacock, Munro; Palmer, Lyle J.; Palotie, Aarno; Paré, Guillaume; Parker, Alex N.; Pedersen, Nancy L.; Peltonen, Leena; Pennell, Craig E.; Pharoah, Paul; Polasek, Ozren; Plump, Andrew S.; Pouta, Anneli; Porcu, Eleonora; Rafnar, Thorunn; Rice, John P.; Ring, Susan M.; Rivadeneira, Fernando; Rudan, Igor; Sala, Cinzia; Salomaa, Veikko; Sanna, Serena; Schlessinger, David; Schork, Nicholas J.; Scuteri, Angelo; Segrè, Ayellet V.; Shuldiner, Alan R.; Soranzo, Nicole; Sovio, Ulla; Srinivasan, Sathanur R.; Strachan, David P.; Tammesoo, Mar-Liis; Tikkanen, Emmi; Toniolo, Daniela; Tsui, Kim; Tryggvadottir, Laufey; Tyrer, Jonathon; Uda, Manuela; van Dam, Rob M.; van Meurs, Joyve B.J.; Vollenweider, Peter; Waeber, Gerard; Wareham, Nicholas J.; Waterworth, Dawn M.; Weedon, Michael N.; Wichmann, H. Erich; Willemsen, Gonneke; Wilson, James F.; Wright, Alan F.; Young, Lauren; Zhai, Guangju; Zhuang, Wei Vivian; Bierut, Laura J.; Boomsma, Dorret I.; Boyd, Heather A.; Crisponi, Laura; Demerath, Ellen W.; van Duijn, Cornelia M.; Econs, Michael J.; Harris, Tamara B.; Hunter, David J.; Loos, Ruth J.F.; Metspalu, Andres; Montgomery, Grant W.; Ridker, Paul M.; Spector, Tim D.; Streeten, Elizabeth A.; Stefansson, Kari; Thorsteinsdottir, Unnur; Uitterlinden, André G.; Widen, Elisabeth; Murabito, Joanne M.; Ong, Ken K.; Murray, Anna

2011-01-01

To identify loci for age at menarche, we performed a meta-analysis of 32 genome-wide association studies in 87,802 women of European descent, with replication in up to 14,731 women. In addition to the known loci at LIN28B (P=5.4×10−60) and 9q31.2 (P=2.2×10−33), we identified 30 novel menarche loci (all P<5×10−8) and found suggestive evidence for a further 10 loci (P<1.9×10−6). New loci included four previously associated with BMI (in/near FTO, SEC16B, TRA2B and TMEM18), three in/near other genes implicated in energy homeostasis (BSX, CRTC1, and MCHR2), and three in/near genes implicated in hormonal regulation (INHBA, PCSK2 and RXRG). Ingenuity and MAGENTA pathway analyses identified coenzyme A and fatty acid biosynthesis as biological processes related to menarche timing. PMID:21102462

Nonverbal behavior in soccer: the influence of dominant and submissive body language on the impression formation and expectancy of success of soccer players.

PubMed

Furley, Philip; Dicks, Matt; Memmert, Daniel

2012-02-01

In the present article, we investigate the effects of specific nonverbal behaviors signaling dominance and submissiveness on impression formation and outcome expectation in the soccer penalty kick situation. In Experiment 1, results indicated that penalty takers with dominant body language are perceived more positively by soccer goalkeepers and players and are expected to perform better than players with a submissive body language. This effect was similar for both video and point-light displays. Moreover, in contrast to previous studies, we found no effect of clothing (red vs. white) in the video condition. In Experiment 2, we used the implicit association test to demonstrate that dominant body language is implicitly associated with a positive soccer player schema whereas submissive body language is implicitly associated with a negative soccer player schema. The implications of our findings are discussed with reference to future implications for theory and research in the study of person perception in sport.

Clinical Correlates, Ethnic Differences, and Prognostic Implications of Perivascular Spaces in Transient Ischemic Attack and Ischemic Stroke.

PubMed

Lau, Kui-Kai; Li, Linxin; Lovelock, Caroline E; Zamboni, Giovanna; Chan, Tsz-Tai; Chiang, Man-Fung; Lo, Kin-Ting; Küker, Wilhelm; Mak, Henry Ka-Fung; Rothwell, Peter M

2017-06-01

Perivascular spaces (PVSs) are considered markers of small vessel disease. However, their long-term prognostic implications in transient ischemic attack/ischemic stroke patients are unknown. Ethnic differences in PVS prevalence are also unknown. Two independent prospective studies were conducted, 1 comprising predominantly whites with transient ischemic attack/ischemic stroke (OXVASC [Oxford Vascular] study) and 1 comprising predominantly Chinese with ischemic stroke (University of Hong Kong). Clinical and imaging correlates, prognostic implications for stroke and death, and ethnic differences in basal ganglia (BG) and centrum semiovale (CS) PVSs were studied with adjustment for age, sex, vascular risk factors, and scanner strength. Whites with transient ischemic attack/ischemic stroke (n=1028) had a higher prevalence of both BG and CS-PVSs compared with Chinese (n=974; >20 BG-PVSs: 22.4% versus 7.1%; >20 CS-PVSs: 45.8% versus 10.4%; P <0.0001). More than 20 BG or CS-PVSs were both associated with increasing age and white matter hyperintensity, although associations with BG-PVSs were stronger (all P <0.0001). During 6924 patient-years of follow-up, BG-PVSs were also independently associated with an increased risk of recurrent ischemic stroke (adjusted hazard ratio compared with <11 PVSs, 11-20 PVSs: HR, 1.15; 95% confidence interval, 0.78-1.68; >20 PVSs: HR, 1.82; 1.18-2.80; P =0.011) but not intracerebral hemorrhage ( P =0.10) or all-cause mortality ( P =0.16). CS-PVSs were not associated with recurrent stroke ( P =0.57) or mortality ( P =0.072). Prognostic associations were similar in both cohorts. Over and above ethnic differences in frequency of PVSs in transient ischemic attack/ischemic stroke patients, BG and CS-PVSs had similar risk factors, but although >20 BG-PVSs were associated with an increased risk of recurrent ischemic stroke, CS-PVSs were not. © 2017 The Authors.

Clinical Correlates, Ethnic Differences, and Prognostic Implications of Perivascular Spaces in Transient Ischemic Attack and Ischemic Stroke

PubMed Central

Lau, Kui-Kai; Li, Linxin; Lovelock, Caroline E.; Zamboni, Giovanna; Chan, Tsz-Tai; Chiang, Man-Fung; Lo, Kin-Ting; Küker, Wilhelm; Mak, Henry Ka-Fung

2017-01-01

Background and Purpose— Perivascular spaces (PVSs) are considered markers of small vessel disease. However, their long-term prognostic implications in transient ischemic attack/ischemic stroke patients are unknown. Ethnic differences in PVS prevalence are also unknown. Methods— Two independent prospective studies were conducted, 1 comprising predominantly whites with transient ischemic attack/ischemic stroke (OXVASC [Oxford Vascular] study) and 1 comprising predominantly Chinese with ischemic stroke (University of Hong Kong). Clinical and imaging correlates, prognostic implications for stroke and death, and ethnic differences in basal ganglia (BG) and centrum semiovale (CS) PVSs were studied with adjustment for age, sex, vascular risk factors, and scanner strength. Results— Whites with transient ischemic attack/ischemic stroke (n=1028) had a higher prevalence of both BG and CS-PVSs compared with Chinese (n=974; >20 BG-PVSs: 22.4% versus 7.1%; >20 CS-PVSs: 45.8% versus 10.4%; P<0.0001). More than 20 BG or CS-PVSs were both associated with increasing age and white matter hyperintensity, although associations with BG-PVSs were stronger (all P<0.0001). During 6924 patient-years of follow-up, BG-PVSs were also independently associated with an increased risk of recurrent ischemic stroke (adjusted hazard ratio compared with <11 PVSs, 11–20 PVSs: HR, 1.15; 95% confidence interval, 0.78–1.68; >20 PVSs: HR, 1.82; 1.18–2.80; P=0.011) but not intracerebral hemorrhage (P=0.10) or all-cause mortality (P=0.16). CS-PVSs were not associated with recurrent stroke (P=0.57) or mortality (P=0.072). Prognostic associations were similar in both cohorts. Conclusions— Over and above ethnic differences in frequency of PVSs in transient ischemic attack/ischemic stroke patients, BG and CS-PVSs had similar risk factors, but although >20 BG-PVSs were associated with an increased risk of recurrent ischemic stroke, CS-PVSs were not. PMID:28495831

Beyond symptom management: Family relations, unmet needs of persons living with severe mental illnesses, and potential implications for social work in South Africa

PubMed Central

Tomita, Andrew; Burns, Jonathan K.; King, Howard; Baumgartner, Joy Noel; Davis, Glen P.; Mtshemla, Sisanda; Nene, Siphumelele; Susser, Ezra

2016-01-01

This study examined the quality of family relationships and its associations with the severity of unmet needs of individuals admitted to a tertiary psychiatric hospital in South Africa. The quality of family relations and perceived unmet needs were assessed using the Lehman Quality of Life Interview and Camberwell Assessment of Needs, respectively. The results show that higher total unmet needs were associated with lower quality of family relations. The main areas of serious unmet needs included accessing government benefits and information, and establishing social relations. The results have implications for hospital-based social workers beyond managing psychiatric symptoms in South Africa. PMID:26731612

Beyond symptom management: Family relations, unmet needs of persons living with severe mental illnesses, and potential implications for social work in South Africa.

PubMed

Tomita, Andrew; Burns, Jonathan K; King, Howard; Baumgartner, Joy Noel; Davis, Glen P; Mtshemla, Sisanda; Nene, Siphumelele; Susser, Ezra

2016-01-01

This study examined the quality of family relationships and its associations with the severity of unmet needs of individuals admitted to a tertiary psychiatric hospital in South Africa. The quality of family relations and perceived unmet needs were assessed using the Lehman Quality of Life Interview and Camberwell Assessment of Needs, respectively. The results show that higher total unmet needs were associated with lower quality of family relations. The main areas of serious unmet needs included accessing government benefits and information, and establishing social relations. The results have implications for hospital-based social workers beyond managing psychiatric symptoms in South Africa.

Culture and social hierarchy: Self- and other-oriented correlates of socioeconomic status across cultures.

PubMed

Miyamoto, Yuri; Yoo, Jiah; Levine, Cynthia S; Park, Jiyoung; Boylan, Jennifer Morozink; Sims, Tamara; Markus, Hazel Rose; Kitayama, Shinobu; Kawakami, Norito; Karasawa, Mayumi; Coe, Christopher L; Love, Gayle D; Ryff, Carol D

2018-05-17

Current theorizing on socioeconomic status (SES) focuses on the availability of resources and the freedom they afford as a key determinant of the association between high SES and stronger orientation toward the self and, by implication, weaker orientation toward others. However, this work relies nearly exclusively on data from Western countries where self-orientation is strongly sanctioned. In the present work, we predicted and found that especially in East Asian countries, where other-orientation is strongly sanctioned, high SES is associated with stronger other-orientation as well as with self-orientation. We first examined both psychological attributes (Study 1, N = 2,832) and socialization values (Study 2a, N = 4,675) in Japan and the United States. In line with the existent evidence, SES was associated with greater self-oriented psychological attributes and socialization values in both the U.S. and Japan. Importantly, however, higher SES was associated with greater other orientation in Japan, whereas this association was weaker or even reversed in the United States. Study 2b (N = 85,296) indicated that the positive association between SES and self-orientation is found, overall, across 60 nations. Further, Study 2b showed that the positive association between SES and other-orientation in Japan can be generalized to other Confucian cultures, whereas the negative association between SES and other-orientation in the U.S. can be generalized to other Frontier cultures. Implications of the current findings for modernization and globalization are discussed. (PsycINFO Database Record (c) 2018 APA, all rights reserved).

Fine-scale population structure of Malays in Peninsular Malaysia and Singapore and implications for association studies.

PubMed

Hoh, Boon-Peng; Deng, Lian; Julia-Ashazila, Mat Jusoh; Zuraihan, Zakaria; Nur-Hasnah, Ma'amor; Nur-Shafawati, Ab Rajab; Hatin, Wan Isa; Endom, Ismail; Zilfalil, Bin Alwi; Khalid, Yusoff; Xu, Shuhua

2015-07-22

Fine scale population structure of Malays - the major population in Malaysia, has not been well studied. This may have important implications for both evolutionary and medical studies. Here, we investigated the population sub-structure of Malay involving 431 samples collected from all states from peninsular Malaysia and Singapore. We identified two major clusters of individuals corresponding to the north and south peninsular Malaysia. On an even finer scale, the genetic coordinates of the geographical Malay populations are in correlation with the latitudes (R(2) = 0.3925; P = 0.029). This finding is further supported by the pairwise FST of Malay sub-populations, of which the north and south regions showed the highest differentiation (FST [North-south] = 0.0011). The collective findings therefore suggest that population sub-structure of Malays are more heterogenous than previously expected even within a small geographical region, possibly due to factors like different genetic origins, geographical isolation, could result in spurious association as demonstrated in our analysis. We suggest that cautions should be taken during the stage of study design or interpreting the association signals in disease mapping studies which are expected to be conducted in Malay population in the near future.

Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.

PubMed

Turcot, Valérie; Lu, Yingchang; Highland, Heather M; Schurmann, Claudia; Justice, Anne E; Fine, Rebecca S; Bradfield, Jonathan P; Esko, Tõnu; Giri, Ayush; Graff, Mariaelisa; Guo, Xiuqing; Hendricks, Audrey E; Karaderi, Tugce; Lempradl, Adelheid; Locke, Adam E; Mahajan, Anubha; Marouli, Eirini; Sivapalaratnam, Suthesh; Young, Kristin L; Alfred, Tamuno; Feitosa, Mary F; Masca, Nicholas G D; Manning, Alisa K; Medina-Gomez, Carolina; Mudgal, Poorva; Ng, Maggie C Y; Reiner, Alex P; Vedantam, Sailaja; Willems, Sara M; Winkler, Thomas W; Abecasis, Gonçalo; Aben, Katja K; Alam, Dewan S; Alharthi, Sameer E; Allison, Matthew; Amouyel, Philippe; Asselbergs, Folkert W; Auer, Paul L; Balkau, Beverley; Bang, Lia E; Barroso, Inês; Bastarache, Lisa; Benn, Marianne; Bergmann, Sven; Bielak, Lawrence F; Blüher, Matthias; Boehnke, Michael; Boeing, Heiner; Boerwinkle, Eric; Böger, Carsten A; Bork-Jensen, Jette; Bots, Michiel L; Bottinger, Erwin P; Bowden, Donald W; Brandslund, Ivan; Breen, Gerome; Brilliant, Murray H; Broer, Linda; Brumat, Marco; Burt, Amber A; Butterworth, Adam S; Campbell, Peter T; Cappellani, Stefania; Carey, David J; Catamo, Eulalia; Caulfield, Mark J; Chambers, John C; Chasman, Daniel I; Chen, Yii-Der I; Chowdhury, Rajiv; Christensen, Cramer; Chu, Audrey Y; Cocca, Massimiliano; Collins, Francis S; Cook, James P; Corley, Janie; Corominas Galbany, Jordi; Cox, Amanda J; Crosslin, David S; Cuellar-Partida, Gabriel; D'Eustacchio, Angela; Danesh, John; Davies, Gail; Bakker, Paul I W; Groot, Mark C H; Mutsert, Renée; Deary, Ian J; Dedoussis, George; Demerath, Ellen W; Heijer, Martin; Hollander, Anneke I; Ruijter, Hester M; Dennis, Joe G; Denny, Josh C; Di Angelantonio, Emanuele; Drenos, Fotios; Du, Mengmeng; Dubé, Marie-Pierre; Dunning, Alison M; Easton, Douglas F; Edwards, Todd L; Ellinghaus, David; Ellinor, Patrick T; Elliott, Paul; Evangelou, Evangelos; Farmaki, Aliki-Eleni; Farooqi, I Sadaf; Faul, Jessica D; Fauser, Sascha; Feng, Shuang; Ferrannini, Ele; Ferrieres, Jean; Florez, Jose C; Ford, Ian; Fornage, Myriam; Franco, Oscar H; Franke, Andre; Franks, Paul W; Friedrich, Nele; Frikke-Schmidt, Ruth; Galesloot, Tessel E; Gan, Wei; Gandin, Ilaria; Gasparini, Paolo; Gibson, Jane; Giedraitis, Vilmantas; Gjesing, Anette P; Gordon-Larsen, Penny; Gorski, Mathias; Grabe, Hans-Jörgen; Grant, Struan F A; Grarup, Niels; Griffiths, Helen L; Grove, Megan L; Gudnason, Vilmundur; Gustafsson, Stefan; Haessler, Jeff; Hakonarson, Hakon; Hammerschlag, Anke R; Hansen, Torben; Harris, Kathleen Mullan; Harris, Tamara B; Hattersley, Andrew T; Have, Christian T; Hayward, Caroline; He, Liang; Heard-Costa, Nancy L; Heath, Andrew C; Heid, Iris M; Helgeland, Øyvind; Hernesniemi, Jussi; Hewitt, Alex W; Holmen, Oddgeir L; Hovingh, G Kees; Howson, Joanna M M; Hu, Yao; Huang, Paul L; Huffman, Jennifer E; Ikram, M Arfan; Ingelsson, Erik; Jackson, Anne U; Jansson, Jan-Håkan; Jarvik, Gail P; Jensen, Gorm B; Jia, Yucheng; Johansson, Stefan; Jørgensen, Marit E; Jørgensen, Torben; Jukema, J Wouter; Kahali, Bratati; Kahn, René S; Kähönen, Mika; Kamstrup, Pia R; Kanoni, Stavroula; Kaprio, Jaakko; Karaleftheri, Maria; Kardia, Sharon L R; Karpe, Fredrik; Kathiresan, Sekar; Kee, Frank; Kiemeney, Lambertus A; Kim, Eric; Kitajima, Hidetoshi; Komulainen, Pirjo; Kooner, Jaspal S; Kooperberg, Charles; Korhonen, Tellervo; Kovacs, Peter; Kuivaniemi, Helena; Kutalik, Zoltán; Kuulasmaa, Kari; Kuusisto, Johanna; Laakso, Markku; Lakka, Timo A; Lamparter, David; Lange, Ethan M; Lange, Leslie A; Langenberg, Claudia; Larson, Eric B; Lee, Nanette R; Lehtimäki, Terho; Lewis, Cora E; Li, Huaixing; Li, Jin; Li-Gao, Ruifang; Lin, Honghuang; Lin, Keng-Hung; Lin, Li-An; Lin, Xu; Lind, Lars; Lindström, Jaana; Linneberg, Allan; Liu, Ching-Ti; Liu, Dajiang J; Liu, Yongmei; Lo, Ken S; Lophatananon, Artitaya; Lotery, Andrew J; Loukola, Anu; Luan, Jian'an; Lubitz, Steven A; Lyytikäinen, Leo-Pekka; Männistö, Satu; Marenne, Gaëlle; Mazul, Angela L; McCarthy, Mark I; McKean-Cowdin, Roberta; Medland, Sarah E; Meidtner, Karina; Milani, Lili; Mistry, Vanisha; Mitchell, Paul; Mohlke, Karen L; Moilanen, Leena; Moitry, Marie; Montgomery, Grant W; Mook-Kanamori, Dennis O; Moore, Carmel; Mori, Trevor A; Morris, Andrew D; Morris, Andrew P; Müller-Nurasyid, Martina; Munroe, Patricia B; Nalls, Mike A; Narisu, Narisu; Nelson, Christopher P; Neville, Matt; Nielsen, Sune F; Nikus, Kjell; Njølstad, Pål R; Nordestgaard, Børge G; Nyholt, Dale R; O'Connel, Jeffrey R; O'Donoghue, Michelle L; Olde Loohuis, Loes M; Ophoff, Roel A; Owen, Katharine R; Packard, Chris J; Padmanabhan, Sandosh; Palmer, Colin N A; Palmer, Nicholette D; Pasterkamp, Gerard; Patel, Aniruddh P; Pattie, Alison; Pedersen, Oluf; Peissig, Peggy L; Peloso, Gina M; Pennell, Craig E; Perola, Markus; Perry, James A; Perry, John R B; Pers, Tune H; Person, Thomas N; Peters, Annette; Petersen, Eva R B; Peyser, Patricia A; Pirie, Ailith; Polasek, Ozren; Polderman, Tinca J; Puolijoki, Hannu; Raitakari, Olli T; Rasheed, Asif; Rauramaa, Rainer; Reilly, Dermot F; Renström, Frida; Rheinberger, Myriam; Ridker, Paul M; Rioux, John D; Rivas, Manuel A; Roberts, David J; Robertson, Neil R; Robino, Antonietta; Rolandsson, Olov; Rudan, Igor; Ruth, Katherine S; Saleheen, Danish; Salomaa, Veikko; Samani, Nilesh J; Sapkota, Yadav; Sattar, Naveed; Schoen, Robert E; Schreiner, Pamela J; Schulze, Matthias B; Scott, Robert A; Segura-Lepe, Marcelo P; Shah, Svati H; Sheu, Wayne H-H; Sim, Xueling; Slater, Andrew J; Small, Kerrin S; Smith, Albert V; Southam, Lorraine; Spector, Timothy D; Speliotes, Elizabeth K; Starr, John M; Stefansson, Kari; Steinthorsdottir, Valgerdur; Stirrups, Kathleen E; Strauch, Konstantin; Stringham, Heather M; Stumvoll, Michael; Sun, Liang; Surendran, Praveen; Swift, Amy J; Tada, Hayato; Tansey, Katherine E; Tardif, Jean-Claude; Taylor, Kent D; Teumer, Alexander; Thompson, Deborah J; Thorleifsson, Gudmar; Thorsteinsdottir, Unnur; Thuesen, Betina H; Tönjes, Anke; Tromp, Gerard; Trompet, Stella; Tsafantakis, Emmanouil; Tuomilehto, Jaakko; Tybjaerg-Hansen, Anne; Tyrer, Jonathan P; Uher, Rudolf; Uitterlinden, André G; Uusitupa, Matti; Laan, Sander W; Duijn, Cornelia M; Leeuwen, Nienke; van Setten, Jessica; Vanhala, Mauno; Varbo, Anette; Varga, Tibor V; Varma, Rohit; Velez Edwards, Digna R; Vermeulen, Sita H; Veronesi, Giovanni; Vestergaard, Henrik; Vitart, Veronique; Vogt, Thomas F; Völker, Uwe; Vuckovic, Dragana; Wagenknecht, Lynne E; Walker, Mark; Wallentin, Lars; Wang, Feijie; Wang, Carol A; Wang, Shuai; Wang, Yiqin; Ware, Erin B; Wareham, Nicholas J; Warren, Helen R; Waterworth, Dawn M; Wessel, Jennifer; White, Harvey D; Willer, Cristen J; Wilson, James G; Witte, Daniel R; Wood, Andrew R; Wu, Ying; Yaghootkar, Hanieh; Yao, Jie; Yao, Pang; Yerges-Armstrong, Laura M; Young, Robin; Zeggini, Eleftheria; Zhan, Xiaowei; Zhang, Weihua; Zhao, Jing Hua; Zhao, Wei; Zhao, Wei; Zhou, Wei; Zondervan, Krina T; Rotter, Jerome I; Pospisilik, John A; Rivadeneira, Fernando; Borecki, Ingrid B; Deloukas, Panos; Frayling, Timothy M; Lettre, Guillaume; North, Kari E; Lindgren, Cecilia M; Hirschhorn, Joel N; Loos, Ruth J F

2018-01-01

Genome-wide association studies (GWAS) have identified >250 loci for body mass index (BMI), implicating pathways related to neuronal biology. Most GWAS loci represent clusters of common, noncoding variants from which pinpointing causal genes remains challenging. Here we combined data from 718,734 individuals to discover rare and low-frequency (minor allele frequency (MAF) < 5%) coding variants associated with BMI. We identified 14 coding variants in 13 genes, of which 8 variants were in genes (ZBTB7B, ACHE, RAPGEF3, RAB21, ZFHX3, ENTPD6, ZFR2 and ZNF169) newly implicated in human obesity, 2 variants were in genes (MC4R and KSR2) previously observed to be mutated in extreme obesity and 2 variants were in GIPR. The effect sizes of rare variants are ~10 times larger than those of common variants, with the largest effect observed in carriers of an MC4R mutation introducing a stop codon (p.Tyr35Ter, MAF = 0.01%), who weighed ~7 kg more than non-carriers. Pathway analyses based on the variants associated with BMI confirm enrichment of neuronal genes and provide new evidence for adipocyte and energy expenditure biology, widening the potential of genetically supported therapeutic targets in obesity.

Factors associated with self-reported health: implications for screening level community-based health and environmental studies

EPA Science Inventory

BACKGROUND: Advocates for environmental justice, local, state, and national public health officials, exposure scientists, need broad-based heath indices to identify vulnerable communities. Longitudinal studies show that perception of current health status predicts subsequent mort...

The association of ADHD and depression: Mediation by peer problems and parent-child difficulties in two complementary samples

PubMed Central

Humphreys, Kathryn L.; Katz, Shaina J.; Lee, Steve S.; Hammen, Constance L.; Brennan, Patricia A.; Najman, Jake M.

2013-01-01

Children with attention-deficit/hyperactivity disorder (ADHD) are at increased risk for the development of depression, with evidence that peer and academic difficulties mediate predictions of later depression from ADHD. The present study hypothesized that parent-child relationship difficulties may be an additional potential mediator of this association. Academic, peer, and parent-child functioning were tested as mediators of the association of attention problems and depression in two distinctly different, yet complementary samples. Study 1 was a cross-sectional sample of 230 5–10 year-old children with and without ADHD. Study 2 was a prospective longitudinal sample of 472 youth followed prospectively from birth to age 20 at risk for depression. Despite differences in age, measures, and designs, both studies implicated peer and parent-child problems as unique mediators of depressive symptoms, although academic difficulties did not uniquely mediate the ADHD-depression association. Further, inattention symptoms, but not hyperactivity, predicted depressive symptoms via the disruption of interpersonal functioning. The inclusion of oppositional defiant disorder into models impacted results, and supported its independent role in parent-child problems. Implications include support for interventions that target interpersonal competence, which may effectively reduce the risk of depression among children with ADHD. PMID:24016021

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

NASA Astrophysics Data System (ADS)

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.

Alternative models of DSM-5 PTSD: Examining diagnostic implications.

PubMed

Murphy, Siobhan; Hansen, Maj; Elklit, Ask; Yong Chen, Yoke; Raudzah Ghazali, Siti; Shevlin, Mark

2018-04-01

The factor structure of DSM-5 posttraumatic stress disorder (PTSD) has been extensively debated with evidence supporting the recently proposed seven-factor Hybrid model. However, despite myriad studies examining PTSD symptom structure few have assessed the diagnostic implications of these proposed models. This study aimed to generate PTSD prevalence estimates derived from the 7 alternative factor models and assess whether pre-established risk factors associated with PTSD (e.g., transportation accidents and sexual victimisation) produce consistent risk estimates. Seven alternative models were estimated within a confirmatory factor analytic framework using the PTSD Checklist for DSM-5 (PCL-5). Data were analysed from a Malaysian adolescent community sample (n = 481) of which 61.7% were female, with a mean age of 17.03 years. The results indicated that all models provided satisfactory model fit with statistical superiority for the Externalising Behaviours and seven-factor Hybrid models. The PTSD prevalence estimates varied substantially ranging from 21.8% for the DSM-5 model to 10.0% for the Hybrid model. Estimates of risk associated with PTSD were inconsistent across the alternative models, with substantial variation emerging for sexual victimisation. These findings have important implications for research and practice and highlight that more research attention is needed to examine the diagnostic implications emerging from the alternative models of PTSD. Copyright © 2017 Elsevier B.V. All rights reserved.

Associations between urinary phthalate concentrations and semen quality parameters in a general population

PubMed Central

Bloom, M.S.; Whitcomb, B.W.; Chen, Z.; Ye, A.; Kannan, K.; Buck Louis, G.M.

2015-01-01

STUDY QUESTION Are urinary phthalate concentrations associated with altered semen quality parameters among males recruited from the general population? SUMMARY ANSWER Urinary levels of metabolites of phthalate diesters are associated with lower total sperm counts, larger sperm head sizes, and higher percentages of morphologically abnormal sperm. WHAT IS KNOWN ALREADY High dose experiments in rats implicate phthalates as anti-androgens. Studies involving infertile men seeking care suggest that phthalates influence measures of semen quality raising concern about the implications for men in the general population. STUDY DESIGN, SIZE, DURATION This prospective cohort study comprised 501 male partners in couples discontinuing contraception to become pregnant, who were recruited from 16 US counties using population-based sampling frameworks from 2005 to 2009. PARTICIPANTS/MATERIALS, SETTING, METHODS Urine and semen samples were obtained at baseline from 473 (94%) men, of whom 378 (80%) men provided a second sample the following month. Urine was analyzed for 14 monoester metabolites of phthalate diesters by high-performance liquid chromatography coupled to tandem mass spectrometry. Semen samples were analyzed for 34 quality parameters categorized as general, motility, morphology, sperm head and sperm chromatin structure. MAIN RESULTS AND THE ROLE OF CHANCE Urinary mono-[2-(carboxymethyl) hexyl] phthalate (MCMHP), mono-(2-ethyl-5-hydroxyhexyl) phthalate (MEHHP), mono-benzyl phthalate (MBzP), and mono-isononyl phthalate (MNP) were significantly associated with lower total sperm counts and concentrations, larger sperm head sizes, higher proportions of megalo head sperm morphology, and/or other morphological changes. Urinary mono-methyl phthalate (MMP) and mono-cyclohexyl phthalate (MCPP) were significantly associated with lower sperm motility, and urine mono-2-ethylhexyl phthalate (MEHP) was significantly associated with higher sperm motility. LIMITATIONS, REASONS FOR CAUTION While adverse associations were observed, the implications of the findings for couple fecundity and fertility remain to be established. Cautious interpretation is needed in light of reliance on a single measurement of phthalate measure and no correction for multiple comparisons. STUDY FUNDING/COMPETING INTEREST(S) This study was supported by the Intramural Research Program of the Eunice Kennedy Shriver National Institute of Child Health and Human Development (N01-HD-3-3355, N01-HD-3-3356 and NOH-HD-3-3358). The authors declare they have no actual or potential competing financial interests. PMID:26350610

Frequency and Quality of Social Networking Among Young Adults: Associations With Depressive Symptoms, Rumination, and Corumination.

PubMed

Davila, Joanne; Hershenberg, Rachel; Feinstein, Brian A; Gorman, Kaitlyn; Bhatia, Vickie; Starr, Lisa R

2012-04-01

Two studies examined associations between social networking and depressive symptoms among youth. In Study 1, 384 participants (68% female; mean age = 20.22 years, SD = 2.90) were surveyed. In Study 2, 334 participants (62% female; M age = 19.44 years, SD = 2.05) were surveyed initially and 3 weeks later. Results indicated that depressive symptoms were associated with quality of social networking interactions, not quantity. There was some evidence that depressive rumination moderated associations, and both depressive rumination and corumination were associated with aspects of social networking usage and quality. Implications for understanding circumstances that increase social networking, as well as resulting negative interactions and negative affect are discussed.

A systematic review on the association between inflammatory genes and cognitive decline in non-demented elderly individuals.

PubMed

Stacey, David; Ciobanu, Liliana G; Baune, Bernhard T

2017-06-01

Cognitive impairment, or decline, is not only a feature of Alzheimer׳s disease and other forms of dementia but also normal ageing. Abundant evidence from epidemiological studies points towards perturbed inflammatory mechanisms in aged individuals, though the cause-effect nature of this apparent relationship is difficult to establish. Genetic association studies focusing on polymorphism in and around inflammatory genes represent a viable approach to establish whether inflammatory mechanisms might play a causal role in cognitive decline, whilst also enabling the identification of specific genes potentially influencing specific cognitive facets. Thus, here we provide a review of published genetic association studies investigating inflammatory genes in the context of cognitive decline in elderly, non-demented, samples. Numerous candidate gene association studies have been performed to date, focusing almost exclusively on genes encoding major cytokines. Some of these studies report significant cognitive domain-specific associations implicating Interleukin 1β (IL1β) (rs16944), Tumour Necrosis Factor α (TNFα) (rs1800629) and C-reactive protein (CRP) in various domains of cognitive function. However, the majority of these studies are lacking in statistical power and have other methodological limitations, suggesting some of them may have yielded false positive results. Genome-wide association studies have implicated less direct and less obvious regulators of inflammatory processes (i.e., PDE7A, HS3ST4, SPOCK3), indicating that a shift away from the major cytokine-encoding genes in future studies will be important. Furthermore, better cohesion across studies with regards to the cognitive test batteries administered to participants along with the continued application of longitudinal designs will be vital. Copyright © 2015 Elsevier B.V. and ECNP. All rights reserved.

Sleep duration and overweight/obesity in children: implication for pediatric nursing

PubMed Central

Liu, Jianghong; Zhang, Angelina; Li, Linda

2012-01-01

Purpose The purpose of this study was to review evidence from the last 5 years (2006-2011) regarding a relationship between sleep duration and childhood overweight/obesity. Conclusions Among the 25 studies selected from PubMed and Web of Knowledge databases, all indicated significant associations between short sleep duration and childhood overweight/obesity. Studies explored a range of pediatric populations, methodologies, and potential contributing factors. Practice Implications Childhood sleep duration may be a modifiable risk factor in preventing obesity. In addition to identifying and assessing patients’ sleep habits, nurses play important roles as educators regarding the importance of adequate sleep and promoting it in children. PMID:22734873

Factors that influence suicidal ideation among elderly Korean immigrants: focus on diatheses and stressors.

PubMed

Kim, Bum Jung; Ahn, Joonhee

2014-07-01

The study examined major diatheses and stressors directly related to suicidal ideation among elderly Korean immigrants. The study also explored the significant interactions among these factors. Data were collected from a cross-sectional survey of 220 elderly Korean immigrants (age ≥ 65) in Los Angeles County. Using a robust hierarchical regression, the study found that neuroticism and hopelessness were significantly associated with suicidal ideation. In addition, two interaction terms - neuroticism by hopelessness and neuroticism by acculturation - were both significant predictor variables with strong explanatory power. The theoretical implications as well as the practical implications for developing and implementing late-life suicide prevention strategies are discussed.

Phytochemical Profile of Brown Rice and Its Nutrigenomic Implications.

PubMed

Ravichanthiran, Keneswary; Ma, Zheng Feei; Zhang, Hongxia; Cao, Yang; Wang, Chee Woon; Muhammad, Shahzad; Aglago, Elom K; Zhang, Yihe; Jin, Yifan; Pan, Binyu

2018-05-23

Whole grain foods have been promoted to be included as one of the important components of a healthy diet because of the relationship between the regular consumption of whole-grain foods and reduced risk of chronic diseases. Rice is a staple food, which has been widely consumed for centuries by many Asian countries. Studies have suggested that brown rice is associated with a wide spectrum of nutrigenomic implications such as anti-diabetic, anti-cholesterol, cardioprotective and antioxidant. This is because of the presence of various phytochemicals that are mainly located in bran layers of brown rice. Therefore, this paper is a review of publications that focuses on the bioactive compounds and nutrigenomic implications of brown rice. Although current evidence supports the fact that the consumption of brown rice is beneficial for health, these studies are heterogeneous in terms of their brown rice samples used and population groups, which cause the evaluation to be difficult. Future clinical studies should focus on the screening of individual bioactive compounds in brown rice with reference to their nutrigenomic implications.

Association of MC4R variants with obesity-related traits in Hispanic children

USDA-ARS?s Scientific Manuscript database

Melanocortin 4 receptor (MC4R) has been implicated in the regulation of appetite and energy expenditure. In children, MC4R mutations have been associated with severe obesity. The main objective of this study was to investigate the potential functional effects of variants in MC4R gene on the variatio...

Psychosocial Correlates of AUDIT-C Hazardous Drinking Risk Status: Implications for Screening and Brief Intervention in College Settings

ERIC Educational Resources Information Center

Wahesh, Edward; Lewis, Todd F.

2015-01-01

The current study identified psychosocial variables associated with AUDIT-C hazardous drinking risk status for male and female college students. Logistic regression analysis revealed that AUDIT-C risk status was associated with alcohol-related negative consequences, injunctive norms, and descriptive norms for both male and female participants.…

Daily Intragroup Contact in Diverse Settings: Implications for Asian Adolescents' Ethnic Identity

ERIC Educational Resources Information Center

Yip, Tiffany; Douglass, Sara; Shelton, J. Nicole

2013-01-01

This study examined the daily-level association between contact with same-ethnic others and ethnic private regard among 132 Asian adolescents (mean age = 14 years) attending four high schools ranging in ethnic composition diversity. The data suggest a positive daily-level association between contact with same-ethnic others and ethnic private…

The Threshold Distance Associated with Walking from Home to School

ERIC Educational Resources Information Center

Rodríguez-López, Carlos; Salas-Fariña, Zeus M.; Villa-González, Emilio; Borges-Cosic, Milkana; Herrador-Colmenero, Manuel; Medina-Casaubón, Jesús; Ortega, Francisco B.; Chillón, Palma

2017-01-01

Active commuting to school has health implications among young people. We aimed to (a) examine the patterns of commuting to school in children and adolescents regarding gender and area of residence, (b) study the association between distance from home to school and mode of commuting, and (c) identify the threshold distance below which young people…

Self-reported sleep duration associated with distraction analgesia, hyperemia, and secondary hyperalgesia in the heat-capsaicin nociceptive model.

PubMed

Campbell, Claudia M; Bounds, Sara C; Simango, Mpepera B; Witmer, Kenneth R; Campbell, James N; Edwards, Robert R; Haythornthwaite, Jennifer A; Smith, Michael T

2011-07-01

Although sleep deprivation is known to heighten pain sensitivity, the mechanisms by which sleep modifies nociception are largely unknown. Few studies of sleep-pain interactions have utilized quantitative sensory testing models that implicate specific underlying physiologic mechanisms. One possibility, which is beginning to receive attention, is that differences in sleep may alter the analgesic effects of distraction. We utilized the heat-capsaicin nociceptive model to examine whether self-reported habitual sleep duration is associated with distraction analgesia, the degree of secondary hyperalgesia and skin flare, markers implicating both central and peripheral processes that heighten pain. Twenty-eight healthy participants completed three experimental sessions in a randomized within subjects design. In the pain only condition, pain was induced for approximately 70-min via application of heat and capsaicin to the dorsum of the non-dominant hand. Verbal pain ratings were obtained at regular intervals. In the distraction condition, identical procedures were followed, but during heat-capsaicin pain, subjects played a series of video games. The third session involved assessing performance on the video games (no capsaicin). Participants indicated their normal self-reported habitual sleep duration over the past month. Individuals who slept less than 6.5 h/night in the month prior to the study experienced significantly less behavioral analgesia, increased skin flare and augmented secondary hyperalgesia. These findings suggest that reduced sleep time is associated with diminished analgesic benefits from distraction and/or individuals obtaining less sleep have a reduced ability to disengage from pain-related sensations. The secondary hyperalgesia finding may implicate central involvement, whereas enhanced skin flare response suggests that sleep duration may also impact peripheral inflammatory mechanisms. Copyright © 2010 European Federation of International Association for the Study of Pain Chapters. Published by Elsevier Ltd. All rights reserved.

HLA class I associations with EBV+ post-transplant lymphoproliferative disorder.

PubMed

Jones, Kimberley; Wockner, Leesa; Thornton, Alycia; Gottlieb, David; Ritchie, David S; Seymour, John F; Kumarasinghe, Gayathri; Gandhi, Maher K

2015-03-01

Epstein-Barr virus (EBV) is frequently associated with post-transplant lymphoproliferative disorders (EBV(+) PTLD). In these cases, impaired Epstein-Barr virus (EBV)-specific CD8(+) T-cell immunity is strongly implicated and antigen presentation within the malignant B-cell is intact. Interestingly, several studies have reported HLA class I alleles with protective or susceptibility associations. However, results are conflicting, likely influenced by methodology including inconsistent use of multiple hypothesis testing. By contrast, HLA class I associations have been repeatedly reported for classical Hodgkin Lymphoma (cHL), in which EBV is also implicated in a proportion of cases. In contrast to EBV(+) PTLD which expresses the immunodominant EBV latency III EBNA3A/B/C proteins, EBV(+) cHL is restricted to the subdominant EBNA1/LMP1/LMP2 proteins. Herein, we report a study of HLA class I associations in EBV(+) PTLD, with 263 patients with lymphoma (cHL or PTLD) evaluated. Two Australian population cohorts, n = 23,736 and n = 891 were used for comparison. Contrary to previous reports, no HLA class I associations with EBV(+) PTLD were found, whereas for cHL known HLA class I associations were confirmed, with HLA-A*02 homozygous individuals having the lowest odds of developing EBV(+) cHL. Our results suggest that HLA class I does not influence susceptibility to the viral latency III expressing lymphoma, EBV(+) PTLD. Further studies are required for definitive confirmation. Copyright © 2015. Published by Elsevier B.V.

Adiposity, cardiometabolic risk, and vitamin D status: the Framingham Heart Study

USDA-ARS?s Scientific Manuscript database

Objective: Because vitamin D deficiency is associated with a variety of chronic diseases, understanding the characteristics that promote vitamin D deficiency in otherwise healthy adults could have important clinical implications. Few studies relating vitamin D deficiency to obesity have included d...

Prioritization of Epilepsy Associated Candidate Genes by Convergent Analysis

PubMed Central

Jia, Peilin; Ewers, Jeffrey M.; Zhao, Zhongming

2011-01-01

Background Epilepsy is a severe neurological disorder affecting a large number of individuals, yet the underlying genetic risk factors for epilepsy remain unclear. Recent studies have revealed several recurrent copy number variations (CNVs) that are more likely to be associated with epilepsy. The responsible gene(s) within these regions have yet to be definitively linked to the disorder, and the implications of their interactions are not fully understood. Identification of these genes may contribute to a better pathological understanding of epilepsy, and serve to implicate novel therapeutic targets for further research. Methodology/Principal Findings In this study, we examined genes within heterozygous deletion regions identified in a recent large-scale study, encompassing a diverse spectrum of epileptic syndromes. By integrating additional protein-protein interaction data, we constructed subnetworks for these CNV-region genes and also those previously studied for epilepsy. We observed 20 genes common to both networks, primarily concentrated within a small molecular network populated by GABA receptor, BDNF/MAPK signaling, and estrogen receptor genes. From among the hundreds of genes in the initial networks, these were designated by convergent evidence for their likely association with epilepsy. Importantly, the identified molecular network was found to contain complex interrelationships, providing further insight into epilepsy's underlying pathology. We further performed pathway enrichment and crosstalk analysis and revealed a functional map which indicates the significant enrichment of closely related neurological, immune, and kinase regulatory pathways. Conclusions/Significance The convergent framework we proposed here provides a unique and powerful approach to screening and identifying promising disease genes out of typically hundreds to thousands of genes in disease-related CNV-regions. Our network and pathway analysis provides important implications for the underlying molecular mechanisms for epilepsy. The strategy can be applied for the study of other complex diseases. PMID:21390307

Prioritization of epilepsy associated candidate genes by convergent analysis.

PubMed

Jia, Peilin; Ewers, Jeffrey M; Zhao, Zhongming

2011-02-24

Epilepsy is a severe neurological disorder affecting a large number of individuals, yet the underlying genetic risk factors for epilepsy remain unclear. Recent studies have revealed several recurrent copy number variations (CNVs) that are more likely to be associated with epilepsy. The responsible gene(s) within these regions have yet to be definitively linked to the disorder, and the implications of their interactions are not fully understood. Identification of these genes may contribute to a better pathological understanding of epilepsy, and serve to implicate novel therapeutic targets for further research. In this study, we examined genes within heterozygous deletion regions identified in a recent large-scale study, encompassing a diverse spectrum of epileptic syndromes. By integrating additional protein-protein interaction data, we constructed subnetworks for these CNV-region genes and also those previously studied for epilepsy. We observed 20 genes common to both networks, primarily concentrated within a small molecular network populated by GABA receptor, BDNF/MAPK signaling, and estrogen receptor genes. From among the hundreds of genes in the initial networks, these were designated by convergent evidence for their likely association with epilepsy. Importantly, the identified molecular network was found to contain complex interrelationships, providing further insight into epilepsy's underlying pathology. We further performed pathway enrichment and crosstalk analysis and revealed a functional map which indicates the significant enrichment of closely related neurological, immune, and kinase regulatory pathways. The convergent framework we proposed here provides a unique and powerful approach to screening and identifying promising disease genes out of typically hundreds to thousands of genes in disease-related CNV-regions. Our network and pathway analysis provides important implications for the underlying molecular mechanisms for epilepsy. The strategy can be applied for the study of other complex diseases.

Clinical implications of daytime sleepiness for the academic performance of middle school-aged adolescents with attention deficit hyperactivity disorder.

PubMed

Langberg, Joshua M; Dvorsky, Melissa R; Marshall, Stephen; Evans, Steven W

2013-10-01

This study investigated the relative impact of total time slept per night and daytime sleepiness on the academic functioning of 100 middle school-aged youth (mean age = 11.9) with attention deficit hyperactivity disorder (ADHD). The primary goal of the study was to determine if total time slept per night and/or daytime sleepiness, as measured by youth self-report on the Pediatric Daytime Sleepiness Scale (PDSS), predicted academic functioning above and beyond symptoms of ADHD and relevant covariates, such as intelligence, achievement scores and parent education level. Self-reported daytime sleepiness but not self-reported total time slept per night was associated significantly with all academic outcomes. When examined in a hierarchical regression model, self-reported daytime sleepiness significantly predicted parent-rated homework problems and academic impairment and teacher-rated academic competence above and beyond symptoms of ADHD and relevant covariates, but did not predict grade point average or teacher-rated academic impairment. The implications of these findings for understanding more clearly the association between ADHD and sleep and the functional implications of this relationship are discussed. © 2013 European Sleep Research Society.

Association between variations in the disrupted in schizophrenia 1 gene and schizophrenia: A meta-analysis.

PubMed

Xu, Yiliang; Ren, Jun; Ye, Haihong

2018-04-20

Schizophrenia is a severe psychiatric disorder. Genetic and functional studies have strongly implicated the disrupted in schizophrenia 1 gene (DISC1) as a candidate susceptibility gene for schizophrenia. Moreover, recent association studies have indicated that several DISC1 single nucleotide polymorphisms (SNPs) are associated with schizophrenia. However, the association is hardly replicate in different ethnic group. Here, we performed a meta-analysis of the association between DISC1 SNPs and schizophrenia in which the samples were divided into subgroups according to ethnicity. Both rs3738401 and rs821616 showed not significantly association with schizophrenia in the Caucasian, Asian, Japanese or Han Chinese populations. Copyright © 2018 Elsevier B.V. All rights reserved.

The role of biofilms and protozoa in Legionella pathogenesis: implications for drinking water

EPA Science Inventory

Current models to study Legionella pathogenesis include the use of primary macrophages and monocyte cell lines, various free-living protozoan species and murine models of pneumonia. However, there are very few studies of Legionella spp. pathogenesis aimed at associating the role ...

Implications of parental affiliate stigma in families of children with ADHD.

PubMed

Mikami, Amori Yee; Chong, Gua Khee; Saporito, Jena M; Na, Jennifer Jiwon

2015-01-01

This study examined parents' perceptions/awareness and internalization of public courtesy stigma (affiliate stigma) about their children's inattentive and hyperactive/impulsive symptoms, and associations between parental affiliate stigma, parental negativity expressed toward the child, and child social functioning. Participants were families of 63 children (ages 6-10; 42 boys) with attention-deficit/hyperactivity disorder, assessed in a cross-sectional design. After statistical control of children's severity of inattentive and hyperactive/impulsive symptoms (as reported by parents and teachers), parents' self-reports of greater affiliate stigma were associated with more observed negative parenting. The associations between high parental affiliate stigma and children's poorer adult informant-rated social skills and greater observed aggression were partially mediated by increased parental negativity. As well, the positive association between children's adult informant-rated aggressive behavior and parental negativity was partially mediated by parents' increased affiliate stigma. Parental affiliate stigma about their children's inattentive and hyperactive/impulsive symptoms may have negative ramifications for parent-child interactions and children's social functioning. Clinical implications for parent training interventions are discussed.

Hormonal predictors of women's extra-pair vs. in-pair sexual attraction in natural cycles: Implications for extended sexuality.

PubMed

Grebe, Nicholas M; Emery Thompson, Melissa; Gangestad, Steven W

2016-02-01

In naturally cycling women, Roney and Simmons (2013) examined hormonal correlates of their desire for sexual contact. Estradiol was positively associated, and progesterone negatively associated, with self-reported desire. The current study extended these findings by examining, within a sample of 33 naturally cycling women involved in romantic relationships, hormonal correlates of sexual attraction to or interests in specific targets: women's own primary partner or men other than women's primary partner. Women's sexual interests and hormone (estradiol, progesterone, and testosterone) levels were assessed at two different time points. Whereas estradiol levels were associated with relatively greater extra-pair sexual interests than in-pair sexual interests, progesterone levels were associated with relatively greater in-pair sexual interests. Both hormones specifically predicted in-pair sexual desire, estradiol negatively and progesterone positively. These findings have implications for understanding the function of women's extended sexuality - their sexual proceptivity and receptivity outside the fertile phase, especially during the luteal phase. Copyright © 2015 Elsevier Inc. All rights reserved.

Comprehensive metabolic characterization of serum osteocalcin action in a large non-diabetic sample.

PubMed

Entenmann, Lukas; Pietzner, Maik; Artati, Anna; Hannemann, Anke; Henning, Ann-Kristin; Kastenmüller, Gabi; Völzke, Henry; Nauck, Matthias; Adamski, Jerzy; Wallaschofski, Henri; Friedrich, Nele

2017-01-01

Recent research suggested a metabolic implication of osteocalcin (OCN) in e.g. insulin sensitivity or steroid production. We used an untargeted metabolomics approach by analyzing plasma and urine samples of 931 participants using mass spectrometry to reveal further metabolic actions of OCN. Several detected relations between OCN and metabolites were strongly linked to renal function, however, a number of associations remained significant after adjustment for renal function. Intermediates of proline catabolism were associated with OCN reflecting the implication in bone metabolism. The association to kynurenine points towards a pro-inflammatory state with increasing OCN. Inverse relations with intermediates of branch-chained amino acid metabolism suggest a link to energy metabolism. Finally, urinary surrogate markers of smoking highlight its adverse effect on OCN metabolism. In conclusion, the present study provides a read-out of metabolic actions of OCN. However, most of the associations were weak arguing for a limited role of OCN in whole-body metabolism.

Association of Carbon Monoxide exposure with blood pressure among pregnant women in rural Ghana: Evidence from GRAPHS.

PubMed

Quinn, Ashlinn K; Ae-Ngibise, Kenneth Ayuurebobi; Jack, Darby W; Boamah, Ellen Abrafi; Enuameh, Yeetey; Mujtaba, Mohammed Nuhu; Chillrud, Steven N; Wylie, Blair J; Owusu-Agyei, Seth; Kinney, Patrick L; Asante, Kwaku Poku

2016-03-01

The Ghana Randomized Air Pollution and Health Study (GRAPHS) is a community-level randomized-controlled trial of cookstove interventions for pregnant women and their newborns in rural Ghana. Given that household air pollution from biomass burning may be implicated in adverse cardiovascular outcomes, we sought to determine whether exposure to carbon monoxide (CO) from woodsmoke was associated with blood pressure (BP) among 817 adult women. Multivariate linear regression models were used to evaluate the association between CO exposure, determined with 72 hour personal monitoring at study enrollment, and BP, also measured at study enrollment. At the time of these assessments, women were in the first or second trimester of pregnancy. A significant positive association was found between CO exposure and diastolic blood pressure (DBP): on average, each 1 ppm increase in exposure to CO was associated with 0.43 mmHg higher DBP [0.01, 0.86]. A non-significant positive trend was also observed for systolic blood pressure (SBP). This study is one of very few to have examined the relationship between household air pollution and blood pressure among pregnant women, who are at particular risk for hypertensive complications. The results of this cross-sectional study suggest that household air pollution from wood-burning fires is associated with higher blood pressure, particularly DBP, in pregnant women at early to mid-gestation. The clinical implications of the observed association toward the eventual development of chronic hypertension and/or hypertensive complications of pregnancy remain uncertain, as few of the women were overtly hypertensive at this point in their pregnancies. Copyright © 2015 Elsevier GmbH. All rights reserved.

Implications of the admixture process in skin color molecular assessment.

PubMed

Cerqueira, Caio Cesar Silva de; Hünemeier, Tábita; Gomez-Valdés, Jorge; Ramallo, Virgínia; Volasko-Krause, Carla Daiana; Barbosa, Ana Angélica Leal; Vargas-Pinilla, Pedro; Dornelles, Rodrigo Ciconet; Longo, Danaê; Rothhammer, Francisco; Bedoya, Gabriel; Canizales-Quinteros, Samuel; Acuña-Alonzo, Victor; Gallo, Carla; Poletti, Giovanni; González-José, Rolando; Salzano, Francisco Mauro; Callegari-Jacques, Sídia Maria; Schuler-Faccini, Lavínia; Ruiz-Linares, Andrés; Cátira Bortolini, Maria

2014-01-01

The understanding of the complex genotype-phenotype architecture of human pigmentation has clear implications for the evolutionary history of humans, as well as for medical and forensic practices. Although dozens of genes have previously been associated with human skin color, knowledge about this trait remains incomplete. In particular, studies focusing on populations outside the European-North American axis are rare, and, until now, admixed populations have seldom been considered. The present study was designed to help fill this gap. Our objective was to evaluate possible associations of 18 single nucleotide polymorphisms (SNPs), located within nine genes, and one pseudogene with the Melanin Index (MI) in two admixed Brazilian populations (Gaucho, N = 352; Baiano, N = 148) with different histories of geographic and ethnic colonization. Of the total sample, four markers were found to be significantly associated with skin color, but only two (SLC24A5 rs1426654, and SLC45A2 rs16891982) were consistently associated with MI in both samples (Gaucho and Baiano). Therefore, only these 2 SNPs should be preliminarily considered to have forensic significance because they consistently showed the association independently of the admixture level of the populations studied. We do not discard that the other two markers (HERC2 rs1129038 and TYR rs1126809) might be also relevant to admixed samples, but additional studies are necessary to confirm the real importance of these markers for skin pigmentation. Finally, our study shows associations of some SNPs with MI in a modern Brazilian admixed sample, with possible applications in forensic genetics. Some classical genetic markers in Euro-North American populations are not associated with MI in our sample. Our results point out the relevance of considering population differences in selecting an appropriate set of SNPs as phenotype predictors in forensic practice.

Implications of the Admixture Process in Skin Color Molecular Assessment

PubMed Central

de Cerqueira, Caio Cesar Silva; Hünemeier, Tábita; Gomez-Valdés, Jorge; Ramallo, Virgínia; Volasko-Krause, Carla Daiana; Barbosa, Ana Angélica Leal; Vargas-Pinilla, Pedro; Dornelles, Rodrigo Ciconet; Longo, Danaê; Rothhammer, Francisco; Bedoya, Gabriel; Canizales-Quinteros, Samuel; Acuña-Alonzo, Victor; Gallo, Carla; Poletti, Giovanni; González-José, Rolando; Salzano, Francisco Mauro; Callegari-Jacques, Sídia Maria; Schuler-Faccini, Lavínia; Ruiz-Linares, Andrés; Cátira Bortolini, Maria

2014-01-01

The understanding of the complex genotype-phenotype architecture of human pigmentation has clear implications for the evolutionary history of humans, as well as for medical and forensic practices. Although dozens of genes have previously been associated with human skin color, knowledge about this trait remains incomplete. In particular, studies focusing on populations outside the European-North American axis are rare, and, until now, admixed populations have seldom been considered. The present study was designed to help fill this gap. Our objective was to evaluate possible associations of 18 single nucleotide polymorphisms (SNPs), located within nine genes, and one pseudogene with the Melanin Index (MI) in two admixed Brazilian populations (Gaucho, N = 352; Baiano, N = 148) with different histories of geographic and ethnic colonization. Of the total sample, four markers were found to be significantly associated with skin color, but only two (SLC24A5 rs1426654, and SLC45A2 rs16891982) were consistently associated with MI in both samples (Gaucho and Baiano). Therefore, only these 2 SNPs should be preliminarily considered to have forensic significance because they consistently showed the association independently of the admixture level of the populations studied. We do not discard that the other two markers (HERC2 rs1129038 and TYR rs1126809) might be also relevant to admixed samples, but additional studies are necessary to confirm the real importance of these markers for skin pigmentation. Finally, our study shows associations of some SNPs with MI in a modern Brazilian admixed sample, with possible applications in forensic genetics. Some classical genetic markers in Euro-North American populations are not associated with MI in our sample. Our results point out the relevance of considering population differences in selecting an appropriate set of SNPs as phenotype predictors in forensic practice. PMID:24809478

Relationship between the broad autism phenotype, social relationships and mental health for mothers of children with autism spectrum disorder.

PubMed

Pruitt, Megan M; Rhoden, Madeline; Ekas, Naomi V

2018-02-01

This study aimed to examine the mechanisms responsible for the association between the broad autism phenotype and depressive symptoms in mothers of a child with autism spectrum disorder. A total of 98 mothers who had a child with autism spectrum disorder between the ages of 2 and 16 years completed assessments of maternal broad autism phenotype, child behavior problems, romantic relationship satisfaction, friend support, family support, and maternal depressive symptoms. Results indicated that only romantic relationship satisfaction was a significant mediator of the relationship between maternal broad autism phenotype social abnormalities and maternal depressive symptoms, where greater broad autism phenotype social abnormalities were associated with lower relationship satisfaction, which in turn was associated with increased depressive symptoms. Child behavior problems were directly related to increased depressive symptoms. Implications regarding maternal mental health outcomes within this population as well as intervention implications are discussed.

Acculturation and its implications on parenting for Chinese immigrants: a systematic review.

PubMed

Ho, Grace W K

2014-04-01

To systematically review and synthesize existing findings on acculturation and its implications on parenting for Chinese immigrants. Three electronic databases were searched for original research articles that examined acculturation and its influence on parenting in Chinese immigrants. Twenty-two studies were included. Findings suggest that acculturation influences parenting beliefs, attitudes, and practices, as well as parent-child relationships among Chinese immigrants. Acculturation discrepancies between parents and children are associated with negative child outcomes. Further research is needed to better understand the relationships among acculturation and parenting perceptions, parent-child relationships, and parent-child acculturation discrepancies and associated child outcomes. In particular, longitudinal studies with larger samples and multiple methods are needed to suggest causal inferences and validate these relationships. Nurses are at the unique junction to identify these problems through interacting with individuals and families at the clinical and mental/community health levels.

Parent and Child Fluency in a Common Language: Implications for the Parent–Child Relationship and Later Academic Success in Mexican American Families

PubMed Central

Schofield, Thomas; Beaumont, Kelly; Widaman, Keith; Jochem, Rachel; Robins, Richard; Conger, Rand

2013-01-01

The current study tested elements of the theoretical model of Portes and Rumbaut (1996), which proposes that parent–child differences in English fluency in immigrant families affect various family processes that, in turn, relate to changes in academic success. The current study of 674 Mexican- origin families provided support for the model in that parent–child fluency in a common language was associated with several dimensions of the parent–child relationship, including communication, role reversal, and conflict. In turn, these family processes predicted child academic performance, school problems, and academic aspirations and expectations. The current findings extend the Portes and Rumbaut (1996) model, however, inasmuch as joint fluency in either English or Spanish was associated with better parent–child relationships. The findings have implications for educational and human service issues involving Mexican Americans and other immigrant groups. PMID:23244454

Twin Studies and Their Implications for Molecular Genetic Studies: Endophenotypes Integrate Quantitative and Molecular Genetics in ADHD Research

ERIC Educational Resources Information Center

Wood, Alexis C.; Neale, Michael C.

2010-01-01

Objective: To describe the utility of twin studies for attention-deficit/hyperactivity disorder (ADHD) research and demonstrate their potential for the identification of alternative phenotypes suitable for genomewide association, developmental risk assessment, treatment response, and intervention targets. Method: Brief descriptions of the classic…

FTO associations with obesity and telomere length.

PubMed

Zhou, Yuling; Hambly, Brett D; McLachlan, Craig S

2017-09-01

This review examines the biology of the Fat mass- and obesity-associated gene (FTO), and the implications of genetic association of FTO SNPs with obesity and genetic aging. Notably, we focus on the role of FTO in the regulation of methylation status as possible regulators of weight gain and genetic aging. We present a theoretical review of the FTO gene with a particular emphasis on associations with UCP2, AMPK, RBL2, IRX3, CUX1, mTORC1 and hormones involved in hunger regulation. These associations are important for dietary behavior regulation and cellular nutrient sensing via amino acids. We suggest that these pathways may also influence telomere regulation. Telomere length (TL) attrition may be influenced by obesity-related inflammation and oxidative stress, and FTO gene-involved pathways. There is additional emerging evidence to suggest that telomere length and obesity are bi-directionally associated. However, the role of obesity risk-related genotypes and associations with TL are not well understood. The FTO gene may influence pathways implicated in regulation of TL, which could help to explain some of the non-consistent relationship between weight phenotype and telomere length that is observed in population studies investigating obesity.

Embarrassing Age Spots or Just Plain Ugly? Physical Attractiveness Stereotyping as an Instrument of Sexism on American Television Commercials.

ERIC Educational Resources Information Center

Downs, A. Chris; Harrison, Sheila K.

1985-01-01

Study examines frequency of attractiveness-based messages on 4,294 network television commercials. Attractiveness statements appear to be associated more with food and drink and personal care ads and with female performers and male voice-overs. Implications of an association of women and attractiveness on television are explored. (Author/SA)

Detection of citrus huanglongbing-associated ‘Candidatus Liberibacter asiaticus’ in citrus and Diaphorina citri in Pakistan, season variability, and implications for disease management

USDA-ARS?s Scientific Manuscript database

We report the detection of the huanglongbing (HLB)-associated bacterium ‘Candidatus Liberibacter asiaticus’ from both plants and insects in Pakistan and the seasonal variability in the numbers of ‘Ca. L. asiaticus’-positive psyllid vector, Diaphorina citri. Our studies showed that ‘Ca. L. asiaticus’...

The Distinct Roles of Sociometric and Perceived Popularity in Friendship: Implications for Adolescent Depressive Affect and Self-Esteem

ERIC Educational Resources Information Center

Litwack, Scott D.; Aikins, Julie Wargo; Cillessen, Antonius H. N.

2012-01-01

The primary goal of this study was to examine the similarities and distinctions between two types of popularity, sociometric and perceived, in their associations with friendship characteristics and how they in turn are related to depressive affect and self-esteem. Among 245 eighth graders, sociometric popularity was associated with a greater…

Arts and Learning SIG. Proceedings of the Annual Meeting of the American Educational Research Association (Chicago, Illinois, March 31-April 4, 1985).

ERIC Educational Resources Information Center

Koroscik, Judith; Barrett, Terry

The Proceedings Journal contains 13 articles presented at the American Educational Research Association annual meeting as part of the Arts and Learning Special Interest Group program. Individual articles and their authors are: "A Descriptive and Analytical Study of Art Criticism Formats with Implications for Curricular Implementation" by Karen…

Moving beyond Alcohol: A Review of Other Issues Associated with Fraternity Membership with Implications for Practice and Research

ERIC Educational Resources Information Center

Biddix, J. Patrick

2016-01-01

This review of research synthesizes more than a decade of published studies on problems associated with fraternity membership beyond alcohol misuse. Topics include sex-related issues, drug use, hazing, and other issues such as gambling, academic dishonesty, campus civility, and fake identification use. Recommendations suggest the need for a role…

Creativity, Psychopathology, and Emotion Processing: A Liberal Response Bias for Remembering Negative Information Is Associated with Higher Creativity

ERIC Educational Resources Information Center

Drus, Marina; Kozbelt, Aaron; Hughes, Robert R.

2014-01-01

To what extent do more creative people process emotional information differently than less creative people? This study examined the role of emotion processing in creativity and its implications for the creativity-psychopathology association. A total of 117 participants performed a memory recognition task for negative, positive, and neutral words;…

Epidemiological and clinical complexity of amoxicillin-clavulanate-resistant Escherichia coli.

PubMed

Rodríguez-Baño, Jesús; Oteo, Jesús; Ortega, Adriana; Villar, Macarena; Conejo, M Carmen; Bou, Germán; Aranzamendi-Zaldumbide, Maitane; Cercenado, Emilia; Gurguí, Mercè; Martínez-Martínez, Luis; Merino, María; Rivera, Alba; Oliver, Antonio; Weber, Irene; Pascual, Alvaro; Bartolomé, Rosa M; Gónzalez-López, Juan José; Campos, José

2013-07-01

Two hundred twelve patients with colonization/infection due to amoxicillin-clavulanate (AMC)-resistant Escherichia coli were studied. OXA-1- and inhibitor-resistant TEM (IRT)-producing strains were associated with urinary tract infections, while OXA-1 producers and chromosomal AmpC hyperproducers were associated with bacteremic infections. AMC resistance in E. coli is a complex phenomenon with heterogeneous clinical implications.

The Contribution of "Cool" and "Hot" Components of Decision-Making in Adolescence: Implications for Developmental Psychopathology

ERIC Educational Resources Information Center

Seguin, Jean R.; Arseneault, Louise; Tremblay, Richard E.

2007-01-01

Impairments in either "cool" or "hot" processes may represent two pathways to deficient decision-making. Whereas cool processes are associated with cognitive and rational decisions, hot processes are associated with emotional, affective, and visceral processes. In this study, 168 boys were administered a card-playing task at ages 13 and 14 years…

Divergent Expression Patterns and Function Implications of Four nanos Genes in a Hermaphroditic Fish, Epinephelus coioides.

PubMed

Sun, Zhi-Hui; Wang, Yang; Lu, Wei-Jia; Li, Zhi; Liu, Xiao-Chun; Li, Shui-Sheng; Zhou, Li; Gui, Jian-Fang

2017-03-23

Multiple nanos genes have been characterized in several fishes, but the functional implications of their various expression patterns remain unclear. In this study, we identified and characterized four nanos genes from a hermaphroditic fish orange-spotted grouper, Epinephelus coioides . Ecnanos1a and Ecnanos1b show divergent expression patterns, and the dynamic expression change of Ecnanos1a in pituitaries during sex change is associated with testis differentiation and spermatogenesis. Ecnanos2 and Ecnanos3 might be germline stem cells (GSCs) and primordial germ cells (PGCs)-specific markers, respectively. Significantly, Ecnanos3 3'-untranslated region (UTR) is necessary for PGC specific expression, where a non-canonical "GCACGTTT" sequence is required for miR-430-mediated repression of Ecnanos3 RNA. Furthermore, grouper Dead end (Dnd) can relieve miR-430 repression in PGCs by associating with a 23 bp U-rich region (URR) in Ecnanos3 3'-UTR. The current study revealed the functional association of multiple nanos genes with PGC formation and germ cell development in orange-spotted grouper, and opened up new possibilities for developing biotechnologies through utilizing the associations between Ecnanos3 and PGCs or between Ecnanos2 and GSCs in the hermaphroditic fish.

Common variants at five new loci associated with early-onset inflammatory bowel disease.

PubMed

Imielinski, Marcin; Baldassano, Robert N; Griffiths, Anne; Russell, Richard K; Annese, Vito; Dubinsky, Marla; Kugathasan, Subra; Bradfield, Jonathan P; Walters, Thomas D; Sleiman, Patrick; Kim, Cecilia E; Muise, Aleixo; Wang, Kai; Glessner, Joseph T; Saeed, Shehzad; Zhang, Haitao; Frackelton, Edward C; Hou, Cuiping; Flory, James H; Otieno, George; Chiavacci, Rosetta M; Grundmeier, Robert; Castro, Massimo; Latiano, Anna; Dallapiccola, Bruno; Stempak, Joanne; Abrams, Debra J; Taylor, Kent; McGovern, Dermot; Silber, Gary; Wrobel, Iwona; Quiros, Antonio; Barrett, Jeffrey C; Hansoul, Sarah; Nicolae, Dan L; Cho, Judy H; Duerr, Richard H; Rioux, John D; Brant, Steven R; Silverberg, Mark S; Taylor, Kent D; Barmuda, M Michael; Bitton, Alain; Dassopoulos, Themistocles; Datta, Lisa Wu; Green, Todd; Griffiths, Anne M; Kistner, Emily O; Murtha, Michael T; Regueiro, Miguel D; Rotter, Jerome I; Schumm, L Philip; Steinhart, A Hillary; Targan, Stephen R; Xavier, Ramnik J; Libioulle, Cécile; Sandor, Cynthia; Lathrop, Mark; Belaiche, Jacques; Dewit, Olivier; Gut, Ivo; Heath, Simon; Laukens, Debby; Mni, Myriam; Rutgeerts, Paul; Van Gossum, André; Zelenika, Diana; Franchimont, Denis; Hugot, J P; de Vos, Martine; Vermeire, Severine; Louis, Edouard; Cardon, Lon R; Anderson, Carl A; Drummond, Hazel; Nimmo, Elaine; Ahmad, Tariq; Prescott, Natalie J; Onnie, Clive M; Fisher, Sheila A; Marchini, Jonathan; Ghori, Jilur; Bumpstead, Suzannah; Gwillam, Rhian; Tremelling, Mark; Delukas, Panos; Mansfield, John; Jewell, Derek; Satsangi, Jack; Mathew, Christopher G; Parkes, Miles; Georges, Michel; Daly, Mark J; Heyman, Melvin B; Ferry, George D; Kirschner, Barbara; Lee, Jessica; Essers, Jonah; Grand, Richard; Stephens, Michael; Levine, Arie; Piccoli, David; Van Limbergen, John; Cucchiara, Salvatore; Monos, Dimitri S; Guthery, Stephen L; Denson, Lee; Wilson, David C; Grant, Straun F A; Daly, Mark; Silverberg, Mark S; Satsangi, Jack; Hakonarson, Hakon

2009-12-01

The inflammatory bowel diseases (IBD) Crohn's disease and ulcerative colitis are common causes of morbidity in children and young adults in the western world. Here we report the results of a genome-wide association study in early-onset IBD involving 3,426 affected individuals and 11,963 genetically matched controls recruited through international collaborations in Europe and North America, thereby extending the results from a previous study of 1,011 individuals with early-onset IBD. We have identified five new regions associated with early-onset IBD susceptibility, including 16p11 near the cytokine gene IL27 (rs8049439, P = 2.41 x 10(-9)), 22q12 (rs2412973, P = 1.55 x 10(-9)), 10q22 (rs1250550, P = 5.63 x 10(-9)), 2q37 (rs4676410, P = 3.64 x 10(-8)) and 19q13.11 (rs10500264, P = 4.26 x 10(-10)). Our scan also detected associations at 23 of 32 loci previously implicated in adult-onset Crohn's disease and at 8 of 17 loci implicated in adult-onset ulcerative colitis, highlighting the close pathogenetic relationship between early- and adult-onset IBD.

The Role of Racial Identity and Implicit Racial Bias in Self-Reported Racial Discrimination: Implications for Depression Among African American Men

PubMed Central

Chae, David H.; Powell, Wizdom A.; Nuru-Jeter, Amani M.; Smith-Bynum, Mia A.; Seaton, Eleanor K.; Forman, Tyrone A.; Turpin, Rodman; Sellers, Robert

2017-01-01

Racial discrimination is conceptualized as a psychosocial stressor that has negative implications for mental health. However, factors related to racial identity may influence whether negative experiences are interpreted as instances of racial discrimination and subsequently reported as such in survey instruments, particularly given the ambiguous nature of contemporary racism. Along these lines, dimensions of racial identity may moderate associations between racial discrimination and mental health outcomes. This study examined relationships between racial discrimination, racial identity, implicit racial bias, and depressive symptoms among African American men between 30 and 50 years of age (n = 95). Higher racial centrality was associated with greater reports of racial discrimination, while greater implicit anti-Black bias was associated with lower reports of racial discrimination. In models predicting elevated depressive symptoms, holding greater implicit anti-Black bias in tandem with reporting lower racial discrimination was associated with the highest risk. Results suggest that unconscious as well as conscious processes related to racial identity are important to consider in measuring racial discrimination, and should be integrated in studies of racial discrimination and mental health. PMID:29386696

Outbreaks where food workers have been implicated in the spread of foodborne disease. Part 4. Infective doses and pathogen carriage.

PubMed

Todd, Ewen C D; Greig, Judy D; Bartleson, Charles A; Michaels, Barry S

2008-11-01

In this article, the fourth in a series reviewing the role of food workers in foodborne outbreaks, background information on the presence of enteric pathogens in the community, the numbers of organisms required to initiate an infection, and the length of carriage are presented. Although workers have been implicated in outbreaks, they were not always aware of their infections, either because they were in the prodromic phase before symptoms began or because they were asymptomatic carriers. Pathogens of fecal, nose or throat, and skin origin are most likely to be transmitted by the hands, highlighting the need for effective hand hygiene and other barriers to pathogen contamination, such as no bare hand contact with ready-to-eat food. The pathogens most likely to be transmitted by food workers are norovirus, hepatitis A virus, Salmonella, Shigella, and Staphylococcus aureus. However, other pathogens have been implicated in worker-associated outbreaks or have the potential to be implicated. In this study, the likelihood of pathogen involvement in foodborne outbreaks where infected workers have been implicated was examined, based on infectious dose, carriage rate in the community, duration of illness, and length of pathogen excretion. Infectious dose estimates are based on volunteer studies (mostly early experiments) or data from outbreaks. Although there is considerable uncertainty associated with these data, some pathogens appear to be able to infect at doses as low as 1 to 100 units, including viruses, parasites, and some bacteria. Lengthy postsymptomatic shedding periods and excretion by asymptomatic individuals of many enteric pathogens is an important issue for the hygienic management of food workers.

Frequency and Quality of Social Networking Among Young Adults: Associations With Depressive Symptoms, Rumination, and Corumination

PubMed Central

Davila, Joanne; Hershenberg, Rachel; Feinstein, Brian A.; Gorman, Kaitlyn; Bhatia, Vickie; Starr, Lisa R.

2012-01-01

Two studies examined associations between social networking and depressive symptoms among youth. In Study 1, 384 participants (68% female; mean age = 20.22 years, SD = 2.90) were surveyed. In Study 2, 334 participants (62% female; M age = 19.44 years, SD = 2.05) were surveyed initially and 3 weeks later. Results indicated that depressive symptoms were associated with quality of social networking interactions, not quantity. There was some evidence that depressive rumination moderated associations, and both depressive rumination and corumination were associated with aspects of social networking usage and quality. Implications for understanding circumstances that increase social networking, as well as resulting negative interactions and negative affect are discussed. PMID:24490122

Implications from the Beginning Teacher Evaluation Study for the IEA Second Mathematics Study.

ERIC Educational Resources Information Center

Burstein, Leigh

The International Education Association plans for the Second Mathematics Study are deemed inadequate for the identification of the effects of instruction on mathematics education. Suggested modifications are based on the results of two studies. The first is a discussion of major methodological limitations of the Six Subjects Survey. The second is…

Adverse drug event-related emergency department visits associated with complex chronic conditions.

PubMed

Feinstein, James A; Feudtner, Chris; Kempe, Allison

2014-06-01

Outpatient adverse drug events (ADEs) can result in serious outcomes requiring emergency department (ED) visits and hospitalizations. The incidence and severity of ADEs in children with complex chronic conditions (CCCs), who often take multiple medications, is unknown. We sought to describe the characteristics of ADE-related ED visits, including association with CCC status; determine the implicated medications; and determine if CCC status increased the risk of ADE-related admission. Retrospective cohort study of ED visits by patients aged 0 to 18 years using a national sample. ADEs were identified by external cause of injury codes; cases with overdose, wrongful administration, self-harm, or diagnosis of malignancy were excluded. Multivariable logistic regression was used to test outcomes of having an ADE-related ED visit and of subsequent admission. All statistics accounted for the complex survey design. Of 144 million ED visits, 0.5% were associated with ADEs. Adjusting for age, gender, insurance type, day of week, and location of hospital, ADEs were associated with the presence of a CCC (odds ratio 4.76; 95% confidence interval: 4.45-5.10). The implicated medications differed significantly by CCC status. Adjusting for the same variables, ADEs were associated with subsequent inpatient admission (odds ratio 2.18; 95% confidence interval: 2.04-2.32) for all children; an interaction between ADE and CCC status was not significant. ED visits associated with ADEs were more likely to occur for children with CCCs, and the implicated drugs differed, but ADE-related admissions were not differentially affected by CCC status. Copyright © 2014 by the American Academy of Pediatrics.

A Preliminary Genome-Wide Association Study of Pain-Related Fear: Implications for Orofacial Pain.

PubMed

Randall, Cameron L; Wright, Casey D; Chernus, Jonathan M; McNeil, Daniel W; Feingold, Eleanor; Crout, Richard J; Neiswanger, Katherine; Weyant, Robert J; Shaffer, John R; Marazita, Mary L

2017-01-01

Acute and chronic orofacial pain can significantly impact overall health and functioning. Associations between fear of pain and the experience of orofacial pain are well-documented, and environmental, behavioral, and cognitive components of fear of pain have been elucidated. Little is known, however, regarding the specific genes contributing to fear of pain. A genome-wide association study (GWAS; N = 990) was performed to identify plausible genes that may predispose individuals to various levels of fear of pain. The total score and three subscales (fear of minor, severe, and medical/dental pain) of the Fear of Pain Questionnaire-9 (FPQ-9) were modeled in a variance components modeling framework to test for genetic association with 8.5 M genetic variants across the genome, while adjusting for sex, age, education, and income. Three genetic loci were significantly associated with fear of minor pain (8q24.13, 8p21.2, and 6q26; p < 5 × 10 -8 for all) near the genes TMEM65 , NEFM , NEFL , AGPAT4 , and PARK2 . Other suggestive loci were found for the fear of pain total score and each of the FPQ-9 subscales. Multiple genes were identified as possible candidates contributing to fear of pain. The findings may have implications for understanding and treating chronic orofacial pain.

Continuity and Change in Relationships with Neighbors: Implications for Psychological Well-being in Middle and Later Life

PubMed Central

Reyes, Laurent

2015-01-01

Objectives. There is growing enthusiasm for community initiatives that aim to strengthen neighbor relationships to promote well-being in later life. Nevertheless, few studies have examined the extent to which relationships with neighbors are associated with better psychological well-being among midlife and older adults. Methods. We used data from 1,071 noninstitutionalized, English-speaking adults, aged 40–70 years, who participated in both waves of the 1995–2005 National Survey of Midlife Development in the United States. Lagged dependent regression models were estimated to examine associations between changes in two dimensions of neighbor relationships (contact and perceived support) and psychological well-being. Results. Few associations were found between relationships with neighbors and negative or positive affect. In contrast, having continuously low levels of contact with neighbors, or losing contact with neighbors over the 10-year study period, was associated with declining levels of eudaimonic well-being. Associations between contact and this aspect of well-being were explained, in part, by less perceived support from neighbors. Discussion. Results suggest that continuity and change in relationships with neighbors is especially important for more developmental aspects of psychological well-being. Implications for future research on the meaning of neighbor relationships and aging in community are discussed. PMID:25106785

The Impact of Menopause: Implications for Mental Health Counselors.

ERIC Educational Resources Information Center

Baldo, Tracy D.; Schneider, Mercedes K.; Slyter, Marty

2003-01-01

The purpose of this article is to present a brief, informative view of the impact of menopause along with implications for mental health counselors. Menopause and associated stages are defined; symptoms associated with these stages are discussed; the benefits, risks, and consequences of hormone replacement therapy are considered; and…

Sexual Objectification of Women: Clinical Implications and Training Considerations

ERIC Educational Resources Information Center

Szymanski, Dawn M.; Carr, Erika R.; Moffitt, Lauren B.

2011-01-01

This article focuses on the implications of theory and empirical research on the sexual objectification of women. Drawing largely from the American Psychological Association's 2007 "Guidelines for Psychological Practice With Girls and Women," the 2007 "Report of the American Psychological Association's Task Force on the Sexualization of Girls,"…

Possible association between serotonin transporter promoter region polymorphism and extremely violent crime in Chinese males.

PubMed

Liao, Ding-Lieh; Hong, Chen-Jee; Shih, Hao-Ling; Tsai, Shih-Jen

2004-01-01

The neurotransmitter, serotonin, has been implicated in aggressive behavior. The serotonin transporter (5-HTT), which reuptakes serotonin into the nerve terminal, plays a critical role in the regulation of serotonergic function. Previous western reports have demonstrated that the low-activity short (S) allele of the 5-HTT gene-linked polymorphic-region (5-HTTLPR) polymorphism is associated with aggressive behavior and associated personality traits. In the present study, we investigated this 5-HTTLPR genetic polymorphism in a group of Chinese males who had been convicted for extremely violent crime (n = 135) and a normal control group (n = 111). The proportion of S-allele carriers was significantly higher in the criminal group than in the controls (p = 0.006). A significant association was not demonstrated for the relationship between the 5-HTTLPR polymorphism and antisocial personality disorder, substance abuse or alcohol abuse in the criminal group. Our findings demonstrate that carriage of the low-activity S allele is associated with extremely violent criminal behavior in Chinese males, and suggests that the 5-HTT may be implicated in the mechanisms underlying violent behaviors.

ENVIRONMENTAL EXPOSURES TO CHLOROPHENOXY HERBICIDES AND ASSOCIATION WITH ADVERSE HUMAN HEALTH EFFECTS: EXAMPLE OF THE NEED FOR BETTER METHODS

EPA Science Inventory

Previous studies have made the following observations: newly emerging global patterns of disease have been observed, and environmental exposures have been implicated. Ecologic studies are fundamental for the identification of public health problems. Some level of exposure in a...

Corpus Callosum Differences Associated with Persistent Stuttering in Adults

ERIC Educational Resources Information Center

Choo, Ai Leen; Kraft, Shelly Jo; Olivero, William; Ambrose, Nicoline G.; Sharma, Harish; Chang, Soo-Eun; Loucks, Torrey M.

2011-01-01

Recent studies have implicated anatomical differences in speech-relevant brain regions of adults who stutter (AWS) compared to normally fluent adults (NFA). The present study focused on the region of the corpus callosum (CC) which is involved in interhemispheric processing between the left and right cerebral hemispheres. Two-dimensional…

An Experimental Test of CD-ROM Aided Instruction in Transnational Management.

ERIC Educational Resources Information Center

Oviatt, Benjamin M.; Bansal, Ptraima; Houghton, Susan

2000-01-01

Twenty-seven graduate students used a CD-ROM program to study transnational management, while a control group (n=26) used traditional study methods. Use of the CD-ROM was not associated with better examination performance. Implications for increased investment in new classroom technology are drawn. (Author/DB)

DOE Office of Scientific and Technical Information (OSTI.GOV)

Smith, Braeton J.; Starks, Shirley J.; Loose, Verne W.

Pandemic influenza has become a serious global health concern; in response, governments around the world have allocated increasing funds to containment of public health threats from this disease. Pandemic influenza is also recognized to have serious economic implications, causing illness and absence that reduces worker productivity and economic output and, through mortality, robs nations of their most valuable assets - human resources. This paper reports two studies that investigate both the short- and long-term economic implications of a pandemic flu outbreak. Policy makers can use the growing number of economic impact estimates to decide how much to spend to combatmore » the pandemic influenza outbreaks. Experts recognize that pandemic influenza has serious global economic implications. The illness causes absenteeism, reduced worker productivity, and therefore reduced economic output. This, combined with the associated mortality rate, robs nations of valuable human resources. Policy makers can use economic impact estimates to decide how much to spend to combat the pandemic influenza outbreaks. In this paper economists examine two studies which investigate both the short- and long-term economic implications of a pandemic influenza outbreak. Resulting policy implications are also discussed. The research uses the Regional Economic Modeling, Inc. (REMI) Policy Insight + Model. This model provides a dynamic, regional, North America Industrial Classification System (NAICS) industry-structured framework for forecasting. It is supported by a population dynamics model that is well-adapted to investigating macro-economic implications of pandemic influenza, including possible demand side effects. The studies reported in this paper exercise all of these capabilities.« less

Intergroup Contact and Social Change: Implications of Negative and Positive Contact for Collective Action in Advantaged and Disadvantaged Groups.

PubMed

Reimer, Nils Karl; Becker, Julia C; Benz, Angelika; Christ, Oliver; Dhont, Kristof; Klocke, Ulrich; Neji, Sybille; Rychlowska, Magdalena; Schmid, Katharina; Hewstone, Miles

2017-01-01

Previous research has shown that (a) positive intergroup contact with an advantaged group can discourage collective action among disadvantaged-group members and (b) positive intergroup contact can encourage advantaged-group members to take action on behalf of disadvantaged outgroups. Two studies investigated the effects of negative as well as positive intergroup contact. Study 1 ( n = 482) found that negative but not positive contact with heterosexual people was associated with sexual-minority students' engagement in collective action (via group identification and perceived discrimination). Among heterosexual students, positive and negative contacts were associated with, respectively, more and less LGB (lesbian, gay, bisexual) activism. Study 2 ( N = 1,469) found that only negative contact (via perceived discrimination) predicted LGBT (lesbian, gay, bisexual, and transgender) students' collective action intentions longitudinally while only positive contact predicted heterosexual/cisgender students' LGBT activism. Implications for the relationship between intergroup contact, collective action, and social change are discussed.

The Neuropsychology of Risky Sexual Behavior

PubMed Central

Ross, J. Megan; Duperrouzel, Jacqueline; Vega, Melanie; Gonzalez, Raul

2017-01-01

Objective Engagement in risky sexual behavior (RSB) is a significant public health concern. A growing body of literature is elucidating the role of brain systems and neuropsychological constructs implicated in RSB, which may pave the way for novel insights and prevention efforts. Methods In this article, we review studies incorporating neuropsychology into the study of RSB across the lifespan. The review of the literature on the neuropsychology of RSB is separated into three different sections by age of participants. Background is presented on research associating RSB with neurocognitive processes and the brain systems involved. Given the overlap between RSBs and substance use, studies addressing these problems in tandem are also discussed. Results Neurocognitive constructs are implicated in RSB, including impulsivity, decision-making, and working memory. Discussion Thus far, evidence suggest that neuropsychological factors are associated with engagement in RSB. More research on the influence of neuropsychological factors on engagement in RSB is necessary and may help inform future prevention efforts. PMID:27173086

Does a Culture of Happiness Increase Rumination Over Failure?

PubMed

McGuirk, Lucy; Kuppens, Peter; Kingston, Rosemary; Bastian, Brock

2017-07-17

Promoting happiness within society is good for health, but could the overpromotion of happiness have a downside? Across 2 studies, we investigate 2 emotion norms associated with an emphasis on happiness-the importance of (a) seeking positive emotion, and (b) avoiding negative emotion-and whether these norms have implications for how people respond to, and seek to regulate, their negative emotional experiences. In Study 1, we used an experimental design to show that emphasizing the importance of happiness increased rumination in response to failure. In Study 2, we drew on cross-sectional evidence to investigate the other side of this equation, finding that emphasizing the importance of not experiencing negative emotional states (e.g., depression and anxiety) was also associated with increased rumination, and that this had downstream consequences for well-being. Together, the findings suggest that the overpromotion of happiness, and, in turn, the felt social pressure not to experience negative emotional states, has implications for maladaptive responses to negative emotional experiences. (PsycINFO Database Record (c) 2017 APA, all rights reserved).

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

PubMed Central

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

2013-01-01

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 affairs professionals in developing study abroad–specific interventions and resources to maintain student well-being while abroad. PMID:23505594

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

PubMed

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

2010-12-01

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 affairs professionals in developing study abroad-specific interventions and resources to maintain student well-being while abroad.

Associations between cadmium exposure and circulating levels of sex hormones in postmenopausal women

DOE Office of Scientific and Technical Information (OSTI.GOV)

Ali, Imran; Engström, Annette; Vahter, Marie

Recent epidemiological as well as in vivo and in vitro studies collectively suggest that the metalloestrogen cadmium (Cd) could be a potential risk factor for hormone-related cancers in particularly breast cancer. Assessment of the association between Cd exposure and levels of endogenous sex hormones is of pivotal importance, as increased levels of such have been associated with a higher risk of breast cancer in postmenopausal women. The present study investigated the perceived relationship (multivariable-adjusted linear regression analyses) between Cd exposure [blood Cd (B-Cd) and urinary Cd (U-Cd)], and serum levels of androstenedione, testosterone, estradiol, and sex-hormone binding globulin (SHBG), inmore » 438 postmenopausal Swedish women without hormone replacement therapy (HRT). A significant positive association between B-Cd (median 3.4 nmol/L) and serum testosterone levels, as well as a significant inverse association between B-Cd and serum estradiol levels and with the estradiol/testosterone ratio were encountered. However, U-Cd (median 0.69 nmol/mmol creatinine) was inversely associated with serum estradiol levels only. Our data may suggest that Cd interferes with the levels of testosterone and estradiol in postmenopausal women, which might have implications for breast cancer risk. - Highlights: • Low level cadmium exposure may interfere with the levels of steroid hormones. • Cadmium exposure was associated with increased serum testosterone concentrations. • Cadmium exposure was associated with decreased estradiol/testosterone ratio. • Cadmium exposure may have implications for breast-cancer promotion.« less

Decisional impulsivity and the associative-limbic subthalamic nucleus in obsessive-compulsive disorder: stimulation and connectivity

PubMed Central

Voon, Valerie; Droux, Fabien; Morris, Laurel; Chabardes, Stephan; Bougerol, Thierry; David, Olivier; Krack, Paul; Polosan, Mircea

2017-01-01

Abstract Why do we make hasty decisions for short-term gain? Rapid decision-making with limited accumulation of evidence and delay discounting are forms of decisional impulsivity. The subthalamic nucleus is implicated in inhibitory function but its role in decisional impulsivity is less well-understood. Here we assess decisional impulsivity in subjects with obsessive compulsive disorder who have undergone deep brain stimulation of the limbic and associative subthalamic nucleus. We show that stimulation of the subthalamic nucleus is causally implicated in increasing decisional impulsivity with less accumulation of evidence during probabilistic uncertainty and in enhancing delay discounting. Subthalamic stimulation shifts evidence accumulation in subjects with obsessive-compulsive disorder towards a functional less cautious style closer to that of healthy controls emphasizing its adaptive nature. Thus, subjects with obsessive compulsive disorder on subthalamic stimulation may be less likely to check for evidence (e.g. checking that the stove is on) with no difference in subjective confidence (or doubt). In a separate study, we replicate in humans (154 healthy controls) using resting state functional connectivity, tracing studies conducted in non-human primates dissociating limbic, associative and motor frontal hyper-direct connectivity with anterior and posterior subregions of the subthalamic nucleus. We show lateralization of functional connectivity of bilateral ventral striatum to right anterior ventromedial subthalamic nucleus consistent with previous observations of lateralization of emotionally evoked activity to right ventral subthalamic nucleus. We use a multi-echo sequence with independent components analysis, which has been shown to have enhanced signal-to-noise ratio, thus optimizing visualization of small subcortical structures. These findings in healthy controls converge with the effective contacts in obsessive compulsive disorder patients localized within the anterior and ventral subthalamic nucleus. We further show that evidence accumulation is associated with anterior associative-limbic subthalamic nucleus and right dorsolateral prefrontal functional connectivity in healthy controls, a region implicated in decision-making under uncertainty. Together, our findings highlight specificity of the anterior associative-limbic subthalamic nucleus in decisional impulsivity. Given increasing interest in the potential for subthalamic stimulation in psychiatric disorders and the neuropsychiatric symptoms of Parkinson’s disease, these findings have clinical implications for behavioural symptoms and cognitive effects as a function of localization of subthalamic stimulation. PMID:28040671

Decisional impulsivity and the associative-limbic subthalamic nucleus in obsessive-compulsive disorder: stimulation and connectivity.

PubMed

Voon, Valerie; Droux, Fabien; Morris, Laurel; Chabardes, Stephan; Bougerol, Thierry; David, Olivier; Krack, Paul; Polosan, Mircea

2017-02-01

Why do we make hasty decisions for short-term gain? Rapid decision-making with limited accumulation of evidence and delay discounting are forms of decisional impulsivity. The subthalamic nucleus is implicated in inhibitory function but its role in decisional impulsivity is less well-understood. Here we assess decisional impulsivity in subjects with obsessive compulsive disorder who have undergone deep brain stimulation of the limbic and associative subthalamic nucleus. We show that stimulation of the subthalamic nucleus is causally implicated in increasing decisional impulsivity with less accumulation of evidence during probabilistic uncertainty and in enhancing delay discounting. Subthalamic stimulation shifts evidence accumulation in subjects with obsessive-compulsive disorder towards a functional less cautious style closer to that of healthy controls emphasizing its adaptive nature. Thus, subjects with obsessive compulsive disorder on subthalamic stimulation may be less likely to check for evidence (e.g. checking that the stove is on) with no difference in subjective confidence (or doubt). In a separate study, we replicate in humans (154 healthy controls) using resting state functional connectivity, tracing studies conducted in non-human primates dissociating limbic, associative and motor frontal hyper-direct connectivity with anterior and posterior subregions of the subthalamic nucleus. We show lateralization of functional connectivity of bilateral ventral striatum to right anterior ventromedial subthalamic nucleus consistent with previous observations of lateralization of emotionally evoked activity to right ventral subthalamic nucleus. We use a multi-echo sequence with independent components analysis, which has been shown to have enhanced signal-to-noise ratio, thus optimizing visualization of small subcortical structures. These findings in healthy controls converge with the effective contacts in obsessive compulsive disorder patients localized within the anterior and ventral subthalamic nucleus. We further show that evidence accumulation is associated with anterior associative-limbic subthalamic nucleus and right dorsolateral prefrontal functional connectivity in healthy controls, a region implicated in decision-making under uncertainty. Together, our findings highlight specificity of the anterior associative-limbic subthalamic nucleus in decisional impulsivity. Given increasing interest in the potential for subthalamic stimulation in psychiatric disorders and the neuropsychiatric symptoms of Parkinson's disease, these findings have clinical implications for behavioural symptoms and cognitive effects as a function of localization of subthalamic stimulation. © The Author (2016). Published by Oxford University Press on behalf of the Guarantors of Brain.

CHEMICAL CHARACTERIZATION & SPECIATION OF MOBILE SOURCE EMISSIONS: HUMAN EXPOSURE IMPLICATIONS & IMPLEMENTATION PERSPECTIVES

EPA Science Inventory

A significant number of epidemiological studies have identified an increase in occurrence of adverse health effects associated with exposures to mobile source emissions. These adverse effects include asthma, other respiratory diseases, cardiovascular effects, cancer, development...

The microbiome and HIV persistence: implications for viral remission and cure.

PubMed

Koay, Wei Li A; Siems, Lilly V; Persaud, Deborah

2018-01-01

This article discusses the interaction between HIV infection, the gut microbiome, inflammation and immune activation, and HIV reservoirs, along with interventions to target the microbiome and their implications for HIV remission and cure. Most studies show that HIV-infected adults have a gut microbiome associated with decreased bacterial richness and diversity, and associated systemic inflammation and immune activation. A unique set of individuals, elite controllers, who spontaneously control HIV replication, have a similar microbiome to HIV-uninfected individuals. Conversely, exposure to maternal HIV in infants was shown to alter the gut microbiome, even in infants who escaped perinatal infection. Emerging research highlights the importance of the metabolomics and metaproteomics of the gut microbiome, which may have relevance for HIV remission and cure. Together, these studies illustrate the complexity of the relationship between HIV infection, the gut microbiome, and its systemic effects. Understanding the association of HIV with the microbiome, metabolome, and metaproteome may lead to novel therapies to decrease inflammation and immune activation, and impact HIV reservoir size and vaccine responses. Further research in this area is important to inform HIV remission and cure treatments.

A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance

PubMed Central

Manning, Alisa K.; Hivert, Marie-France; Scott, Robert A.; Grimsby, Jonna L.; Bouatia-Naji, Nabila; Chen, Han; Rybin, Denis; Liu, Ching-Ti; Bielak, Lawrence F.; Prokopenko, Inga; Amin, Najaf; Barnes, Daniel; Cadby, Gemma; Hottenga, Jouke-Jan; Ingelsson, Erik; Jackson, Anne U.; Johnson, Toby; Kanoni, Stavroula; Ladenvall, Claes; Lagou, Vasiliki; Lahti, Jari; Lecoeur, Cecile; Liu, Yongmei; Martinez-Larrad, Maria Teresa; Montasser, May E.; Navarro, Pau; Perry, John R. B.; Rasmussen-Torvik, Laura J.; Salo, Perttu; Sattar, Naveed; Shungin, Dmitry; Strawbridge, Rona J.; Tanaka, Toshiko; van Duijn, Cornelia M.; An, Ping; de Andrade, Mariza; Andrews, Jeanette S.; Aspelund, Thor; Atalay, Mustafa; Aulchenko, Yurii; Balkau, Beverley; Bandinelli, Stefania; Beckmann, Jacques S.; Beilby, John P.; Bellis, Claire; Bergman, Richard N.; Blangero, John; Boban, Mladen; Boehnke, Michael; Boerwinkle, Eric; Bonnycastle, Lori L.; Boomsma, Dorret I.; Borecki, Ingrid B.; Böttcher, Yvonne; Bouchard, Claude; Brunner, Eric; Budimir, Danijela; Campbell, Harry; Carlson, Olga; Chines, Peter S.; Clarke, Robert; Collins, Francis S.; Corbatón-Anchuelo, Arturo; Couper, David; de Faire, Ulf; Dedoussis, George V; Deloukas, Panos; Dimitriou, Maria; Egan, Josephine M; Eiriksdottir, Gudny; Erdos, Michael R.; Eriksson, Johan G.; Eury, Elodie; Ferrucci, Luigi; Ford, Ian; Forouhi, Nita G.; Fox, Caroline S; Franzosi, Maria Grazia; Franks, Paul W; Frayling, Timothy M; Froguel, Philippe; Galan, Pilar; de Geus, Eco; Gigante, Bruna; Glazer, Nicole L.; Goel, Anuj; Groop, Leif; Gudnason, Vilmundur; Hallmans, Göran; Hamsten, Anders; Hansson, Ola; Harris, Tamara B.; Hayward, Caroline; Heath, Simon; Hercberg, Serge; Hicks, Andrew A.; Hingorani, Aroon; Hofman, Albert; Hui, Jennie; Hung, Joseph; Jarvelin, Marjo Riitta; Jhun, Min A.; Johnson, Paul C.D.; Jukema, J Wouter; Jula, Antti; Kao, W.H.; Kaprio, Jaakko; Kardia, Sharon L. R.; Keinanen-Kiukaanniemi, Sirkka; Kivimaki, Mika; Kolcic, Ivana; Kovacs, Peter; Kumari, Meena; Kuusisto, Johanna; Kyvik, Kirsten Ohm; Laakso, Markku; Lakka, Timo; Lannfelt, Lars; Lathrop, G Mark; Launer, Lenore J.; Leander, Karin; Li, Guo; Lind, Lars; Lindstrom, Jaana; Lobbens, Stéphane; Loos, Ruth J. F.; Luan, Jian’an; Lyssenko, Valeriya; Mägi, Reedik; Magnusson, Patrik K. E.; Marmot, Michael; Meneton, Pierre; Mohlke, Karen L.; Mooser, Vincent; Morken, Mario A.; Miljkovic, Iva; Narisu, Narisu; O’Connell, Jeff; Ong, Ken K.; Oostra, Ben A.; Palmer, Lyle J.; Palotie, Aarno; Pankow, James S.; Peden, John F.; Pedersen, Nancy L.; Pehlic, Marina; Peltonen, Leena; Penninx, Brenda; Pericic, Marijana; Perola, Markus; Perusse, Louis; Peyser, Patricia A; Polasek, Ozren; Pramstaller, Peter P.; Province, Michael A.; Räikkönen, Katri; Rauramaa, Rainer; Rehnberg, Emil; Rice, Ken; Rotter, Jerome I.; Rudan, Igor; Ruokonen, Aimo; Saaristo, Timo; Sabater-Lleal, Maria; Salomaa, Veikko; Savage, David B.; Saxena, Richa; Schwarz, Peter; Seedorf, Udo; Sennblad, Bengt; Serrano-Rios, Manuel; Shuldiner, Alan R.; Sijbrands, Eric J.G.; Siscovick, David S.; Smit, Johannes H.; Small, Kerrin S.; Smith, Nicholas L.; Smith, Albert Vernon; Stančáková, Alena; Stirrups, Kathleen; Stumvoll, Michael; Sun, Yan V.; Swift, Amy J.; Tönjes, Anke; Tuomilehto, Jaakko; Trompet, Stella; Uitterlinden, Andre G.; Uusitupa, Matti; Vikström, Max; Vitart, Veronique; Vohl, Marie-Claude; Voight, Benjamin F.; Vollenweider, Peter; Waeber, Gerard; Waterworth, Dawn M; Watkins, Hugh; Wheeler, Eleanor; Widen, Elisabeth; Wild, Sarah H.; Willems, Sara M.; Willemsen, Gonneke; Wilson, James F.; Witteman, Jacqueline C.M.; Wright, Alan F.; Yaghootkar, Hanieh; Zelenika, Diana; Zemunik, Tatijana; Zgaga, Lina; Wareham, Nicholas J.; McCarthy, Mark I.; Barroso, Ines; Watanabe, Richard M.; Florez, Jose C.; Dupuis, Josée; Meigs, James B.; Langenberg, Claudia

2013-01-01

Recent genome-wide association studies have described many loci implicated in type 2 diabetes (T2D) pathophysiology and beta-cell dysfunction, but contributed little to our understanding of the genetic basis of insulin resistance. We hypothesized that genes implicated in insulin resistance pathways may be uncovered by accounting for differences in body mass index (BMI) and potential interaction between BMI and genetic variants. We applied a novel joint meta-analytical approach to test associations with fasting insulin (FI) and glucose (FG) on a genome-wide scale. We present six previously unknown FI loci at P<5×10−8 in combined discovery and follow-up analyses of 52 studies comprising up to 96,496non-diabetic individuals. Risk variants were associated with higher triglyceride and lower HDL cholesterol levels, suggestive of a role for these FI loci in insulin resistance pathways. The localization of these additional loci will aid further characterization of the role of insulin resistance in T2D pathophysiology. PMID:22581228

TPH2 polymorphisms and alcohol-related suicide.

PubMed

Zupanc, Tomaž; Pregelj, Peter; Tomori, Martina; Komel, Radovan; Paska, Alja Videtič

2011-02-18

Substantial evidence from family, twin, and adoption studies corroborates implication of genetic and environmental factors, as well as their interactions, on suicidal behavior and alcoholism risk. Serotonergic disfunction seems to be involved in the pathophysiology of substance abuse, and has also an important role in suicidal behavior. Recent studies of the tryptophan hydroxylase 2 showed mild or no association with suicide and alcohol-related suicide. We performed SNP and alcohol analysis on 388 suicide victims and 227 controls. The results showed association between suicide (Pχ²=0.043) and alcohol-related suicide (Pχ²=0.021) for SNP Rs1843809. A tendency for association was determined also for polymorphism Rs1386493 (Pχ²=0.055) and alcohol-related suicide. Data acquired from psychological autopsies in a subsample of suicide victims (n=79) determined more impulsive behavior (Pχ²=0.016) and verbal aggressive behavior (Pχ²=0.025) in the subgroup with alcohol misuse or dependency. In conclusion, our results suggest implication of polymorphisms in suicide and alcohol-related suicide, but further studies are needed to clarify the interplay among serotonergic system disfunction, suicide, alcohol dependence, impulsivity and the role of TPH2 enzyme. © 2010 Elsevier Ireland Ltd. All rights reserved.

Genetic changes associated with testicular cancer susceptibility.

PubMed

Pyle, Louise C; Nathanson, Katherine L

2016-10-01

Testicular germ cell tumor (TGCT) is a highly heritable cancer primarily affecting young white men. Genome-wide association studies (GWAS) have been particularly effective in identifying multiple common variants with strong contribution to TGCT risk. These loci identified through association studies have implicated multiple genes as associated with TGCT predisposition, many of which are unique among cancer types, and regulate processes such as pluripotency, sex specification, and microtubule assembly. Together these biologically plausible genes converge on pathways involved in male germ cell development and maturation, and suggest that perturbation of them confers susceptibility to TGCT, as a developmental defect of germ cell differentiation. Copyright © 2016 Elsevier Inc. All rights reserved.

Obesity in Older Adults: Epidemiology and Implications for Disability and Disease

PubMed Central

Samper-Ternent, Rafael; Al Snih, Soham

2012-01-01

Summary Obesity is a worldwide problem with increasing prevalence and incidence in both developed and developing countries. In older adults, excess weight is associated with a higher prevalence of cardiovascular disease, metabolic disease, several important cancers, and numerous other medical conditions. Obesity has been also associated with increased functional limitations, disability, and poorer quality of life. Additionally, obesity has been independently associated with all-cause mortality. The obesity epidemic has important social and economic implications, representing an important source of increased public health care costs. The aim of this review is to report the epidemiology of obesity world-wide and the implications of obesity on disability and chronic diseases. PMID:22345902

Mixed-Strain Mycobacterium tuberculosis Infections and the Implications for Tuberculosis Treatment and Control

PubMed Central

van Helden, Paul D.; Wilson, Douglas; Colijn, Caroline; McLaughlin, Megan M.; Abubakar, Ibrahim; Warren, Robin M.

2012-01-01

Summary: Numerous studies have reported that individuals can simultaneously harbor multiple distinct strains of Mycobacterium tuberculosis. To date, there has been limited discussion of the consequences for the individual or the epidemiological importance of mixed infections. Here, we review studies that documented mixed infections, highlight challenges associated with the detection of mixed infections, and discuss possible implications of mixed infections for the diagnosis and treatment of patients and for the community impact of tuberculosis control strategies. We conclude by highlighting questions that should be resolved in order to improve our understanding of the importance of mixed-strain M. tuberculosis infections. PMID:23034327

Problematic gaming behaviour and health-related outcomes: A systematic review and meta-analysis.

PubMed

Männikkö, Niko; Ruotsalainen, Heidi; Miettunen, Jouko; Pontes, Halley M; Kääriäinen, Maria

2017-11-01

This systematic review and meta-analysis aimed to investigate the interplay between problematic gaming behaviour and health-related outcomes at different developmental stages. A total of 50 empirical studies met the specified inclusion criteria, and a meta-analysis using correlation coefficients was used for the studies that reported adverse health implications regarding the impact of problematic gaming behaviour on depression, anxiety, obsessive-compulsive disorder and somatisation. Overall, the results suggested that problematic gaming behaviour is significantly associated with a wide range of detrimental health-related outcomes. Finally, the limitations of this review alongside its implications were discussed and considered for future research.

Biological and Clinical Implications of Comorbidities in Parkinson’s Disease

PubMed Central

Santiago, Jose A.; Bottero, Virginie; Potashkin, Judith A.

2017-01-01

A wide spectrum of comorbidities has been associated with Parkinson’s disease (PD), a progressive neurodegenerative disease that affects more than seven million people worldwide. Emerging evidence indicates that chronic diseases including diabetes, depression, anemia and cancer may be implicated in the pathogenesis and progression of PD. Recent epidemiological studies suggest that some of these comorbidities may increase the risk of PD and precede the onset of motor symptoms. Further, drugs to treat diabetes and cancer have elicited neuroprotective effects in PD models. Nonetheless, the mechanisms underlying the occurrence of these comorbidities remain elusive. Herein, we discuss the biological and clinical implications of comorbidities in the pathogenesis, progression, and clinical management, with an emphasis on personalized medicine applications for PD. PMID:29255414

Systematically evaluating the impact of diagnosis-related groups (DRGs) on health care delivery: a matrix of ethical implications.

PubMed

Fourie, Carina; Biller-Andorno, Nikola; Wild, Verina

2014-04-01

Swiss hospitals were required to implement a prospective payment system for reimbursement using a diagnosis-related groups (DRGs) classification system by the beginning of 2012. Reforms to a health care system should be assessed for their impact, including their impact on ethically relevant factors. Over a number of years and in a number of countries, questions have been raised in the literature about the ethical implications of the implementation of DRGs. However, despite this, researchers have not attempted to identify the major ethical issues associated with DRGs systematically. To address this gap in the literature, we have developed a matrix for identifying the ethical implications of the implementation of DRGs. It was developed using a literature review, and empirical studies on DRGs, as well as a review and analysis of existing ethics frameworks. The matrix consists of the ethically relevant parameters of health care systems on which DRGs are likely to have an impact; the ethical values underlying these parameters; and examples of specific research questions associated with DRGs to illustrate how the matrix can be applied. While the matrix has been developed in light of the Swiss health care reform, it could be used as a basis for identifying the ethical implications of DRG-based systems worldwide and for highlighting the ethical implications of other kinds of provider payment systems (PPS). Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

Mitochondrial DNA sequence data reveals association of haplogroup U with psychosis in bipolar disorder.

PubMed

Frye, Mark A; Ryu, Euijung; Nassan, Malik; Jenkins, Gregory D; Andreazza, Ana C; Evans, Jared M; McElroy, Susan L; Oglesbee, Devin; Highsmith, W Edward; Biernacka, Joanna M

2017-01-01

Converging genetic, postmortem gene-expression, cellular, and neuroimaging data implicate mitochondrial dysfunction in bipolar disorder. This study was conducted to investigate whether mitochondrial DNA (mtDNA) haplogroups and single nucleotide variants (SNVs) are associated with sub-phenotypes of bipolar disorder. MtDNA from 224 patients with Bipolar I disorder (BPI) was sequenced, and association of sequence variations with 3 sub-phenotypes (psychosis, rapid cycling, and adolescent illness onset) was evaluated. Gene-level tests were performed to evaluate overall burden of minor alleles for each phenotype. The haplogroup U was associated with a higher risk of psychosis. Secondary analyses of SNVs provided nominal evidence for association of psychosis with variants in the tRNA, ND4 and ND5 genes. The association of psychosis with ND4 (gene that encodes NADH dehydrogenase 4) was further supported by gene-level analysis. Preliminary analysis of mtDNA sequence data suggests a higher risk of psychosis with the U haplogroup and variation in the ND4 gene implicated in electron transport chain energy regulation. Further investigation of the functional consequences of this mtDNA variation is encouraged. Copyright © 2016. Published by Elsevier Ltd.

Carnitine Palmitoyltransferase 1A P479L and Infant Death: Policy Implications of Emerging Data

PubMed Central

Fohner, Alison E.; Garrison, Nanibaa’ A.; Austin, Melissa A.; Burke, Wylie

2017-01-01

Carnitine Palmitoyltransferase 1 Isoform A (CPT1A) is a crucial enzyme for the transport of long chain fatty acids into the mitochondria. The CPT1A P479L variant is found in high frequencies among indigenous populations residing on the west and north coasts of Alaska and Canada and in northeast Siberia and Greenland. Epidemiological studies have reported a statistical association between P479L homozygosity and infant death in Alaska Native and Canadian Inuit populations. Here, we review the available evidence about the P479L variant and apply to these data the epidemiological criteria for assessing causal associations. We find insufficient evidence to support a causal association with infant death and further, that if a causal association is present, the genotype is likely to be only one of a complex set of factors contributing to an increased risk of infant death. We conclude that additional research is needed to clarify the observed association and to inform effective preventative measures for infant death. In light of these findings, we discuss the policy implications for public health efforts, as policies based on the observed association between P479L homozygosity and infant death data are premature. PMID:28125087

Genetic overlap between type 2 diabetes and major depressive disorder identified by bioinformatics analysis.

PubMed

Ji, Hong-Fang; Zhuang, Qi-Shuai; Shen, Liang

2016-04-05

Our study investigated the shared genetic etiology underlying type 2 diabetes (T2D) and major depressive disorder (MDD) by analyzing large-scale genome wide association studies statistics. A total of 496 shared SNPs associated with both T2D and MDD were identified at p-value ≤ 1.0E-07. Functional enrichment analysis showed that the enriched pathways pertained to immune responses (Fc gamma R-mediated phagocytosis, T cell and B cell receptors signaling), cell signaling (MAPK, Wnt signaling), lipid metabolism, and cancer associated pathways. The findings will have potential implications for future interventional studies of the two diseases.

A study of the role of GATA4 polymorphism in cardiovascular metabolic disorders

PubMed Central

2013-01-01

Background The study was designed to evaluate the association of GATA4 gene polymorphism with coronary artery disease (CAD) and its metabolic risk factors, including dyslipidaemic disorders, obesity, type 2 diabetes and hypertension, following a preliminary study linking early onset of CAD in heterozygous familial hypercholesterolaemia to chromosome 8, which harbours the GATA4 gene. Results We first sequenced the whole GATA4 gene in 250 individuals to identify variants of interest and then investigated the association of 12 single-nucleotide polymorphisms (SNPs) with the disease traits using Taqman chemistry in 4,278 angiographed Saudi individuals. Of the studied SNPs, rs804280 (1.14 (1.03 to 1.27); p = 0.009) was associated with CAD (2,274 cases vs 2,004 controls), hypercholesterolaemia (1,590 vs 2,487) (1.61 (1.03–2.52); p = 0.037) and elevated low-density lipoprotein-cholesterol (hLDLC) (575 vs 3,404) (1.87 (1.10–3.15); p = 0.020). Additionally, rs3729855_T (1.52 (1.09–2.11; p = 0.013)) and rs17153743 (AG + GG) (2.30 (1.30–4.26); p = 0.005) were implicated in hypertension (3,312 vs 966), following adjustments for confounders. Furthermore, haplotypes CCCGTGCC (χ2 = 4.71; p = 0.041) and GACCCGTG (χ2 = 3.84; p = 0.050) constructed from the SNPs were associated with CAD and ACCCACGC (χ2 = 6.58; p = 0.010) with myocardial infarction, while hypercholesterolaemia (χ2 = 3.86; p = 0.050) and hLDLC (χ2 = 4.94; p = 0.026) shared the AACCCATGT, and AACCCATGTC was associated with hLDLC (χ2 = 4.83; p = 0.028). A 10-mer GACCCGCGCC (χ2 = 7.59; p = 0.006) was associated with obesity (1,631 vs 2,362), and the GACACACCC (χ2 = 4.05; p = 0.044) was implicated in type 2 diabetes mellitus 2,378 vs 1,900). Conclusion Our study implicates GATA4 in CAD and its metabolic risk traits. The finding also points to the possible involvement of yet undefined entities related to GATA4 transcription activity or gene regulatory pathways in events leading to these cardiovascular disorders. PMID:24330461

Analyzing the Role of MicroRNAs in Schizophrenia in the Context of Common Genetic Risk Variants.

PubMed

Hauberg, Mads Engel; Roussos, Panos; Grove, Jakob; Børglum, Anders Dupont; Mattheisen, Manuel

2016-04-01

The recent implication of 108 genomic loci in schizophrenia marked a great advancement in our understanding of the disease. Against the background of its polygenic nature there is a necessity to identify how schizophrenia risk genes interplay. As regulators of gene expression, microRNAs (miRNAs) have repeatedly been implicated in schizophrenia etiology. It is therefore of interest to establish their role in the regulation of schizophrenia risk genes in disease-relevant biological processes. To examine the role of miRNAs in schizophrenia in the context of disease-associated genetic variation. The basis of this study was summary statistics from the largest schizophrenia genome-wide association study meta-analysis to date (83 550 individuals in a meta-analysis of 52 genome-wide association studies) completed in 2014 along with publicly available data for predicted miRNA targets. We examined whether schizophrenia risk genes were more likely to be regulated by miRNA. Further, we used gene set analyses to identify miRNAs that are regulators of schizophrenia risk genes. Results from association tests for miRNA targetomes and related analyses. In line with previous studies, we found that similar to other complex traits, schizophrenia risk genes were more likely to be regulated by miRNAs (P < 2 × 10-16). Further, the gene set analyses revealed several miRNAs regulating schizophrenia risk genes, with the strongest enrichment for targets of miR-9-5p (P = .0056 for enrichment among the top 1% most-associated single-nucleotide polymorphisms, corrected for multiple testing). It is further of note that MIR9-2 is located in a genomic region showing strong evidence for association with schizophrenia (P = 7.1 × 10-8). The second and third strongest gene set signals were seen for the targets of miR-485-5p and miR-137, respectively. This study provides evidence for a role of miR-9-5p in the etiology of schizophrenia. Its implication is of particular interest as the functions of this neurodevelopmental miRNA tie in with established disease biology: it has a regulatory loop with the fragile X mental retardation homologue FXR1 and regulates dopamine D2 receptor density.

Empowering low-income black families of handicapped children.

PubMed

Kalyanpur, M; Rao, S S

1991-10-01

A qualitative study of four black, low-income, single mothers used in-depth interviews and participant observation to evaluate their interactions with outreach agency professionals. Three perceived aspects (disrespect, focus on deficits, and discounting parenting style differences) were associated with exclusionary (unempowering) relationships. A reciprocal and supportive approach was associated with collaborative (empowering) relationships. Implications of these findings for professionals serving minority families are discussed.

IMPLICATIONS OF PARTICULATE MATTER RESEARCH PROGRAM UPON EXPOSURE ASSESSMENT AND APPORTIONMENT AND ATTRIBUTION OF ENVIRONMENTAL EFFECTS

EPA Science Inventory

Recent personal exposure panel studies and monitoring programs addressing fine particulate matter (PM) and associated co-pollutants have elucidated the physical and statistical relationships between personal exposures, residential indoor concentrations (and sources), concentratio...

Sibling Relationships in Early Childhood.

ERIC Educational Resources Information Center

Dunn, Judy

1983-01-01

Reviews and considers the developmental implications of recent evidence on the nature of sibling interaction from observational studies of preschool children. Argues that, in contrast to complementary interaction, sibling influence is most plausibly associated with reciprocal interaction and with sociocognitive development. (Author/RH)

Broadcast Journalism Education: Some Implications.

ERIC Educational Resources Information Center

Sayer, James E.

1988-01-01

Discusses a survey of the Radio-TV News Directors Association focusing on the state of broadcast journalism education and training. Finds that the broadcasting profession believes students need to improve their writing skills, and follow a more well-rounded course of study. (MS)

Daily Intragroup Contact in Diverse Settings: Implications for Asian Adolescents' Ethnic Identity

PubMed Central

Yip, Tiffany; Douglass, Sara E.; Shelton, J. Nicole

2013-01-01

This study examined the daily-level association between contact with same-ethnic others and ethnic private regard among 132 Asian adolescents (mean age 14) attending 4 high schools ranging in ethnic composition diversity. The data suggest a positive daily-level association between contact with same-ethnic others and ethnic private regard for adolescents who were highly identified with their ethnic group and who attended predominantly White or ethnically heterogeneous schools. In addition, using time lag analyses, contact with same-ethnic others yesterday was positively related to ethnic private regard today, but ethnic private regard yesterday was unrelated to contact with same-ethnic others today, suggesting that adolescents' identity is responsive to their environments. The implications of these findings for the development of ethnic identity are discussed. PMID:23294295

Functional Assays to Screen and Dissect Genomic Hits: Doubling Down on the National Investment in Genomic Research.

PubMed

Musunuru, Kiran; Bernstein, Daniel; Cole, F Sessions; Khokha, Mustafa K; Lee, Frank S; Lin, Shin; McDonald, Thomas V; Moskowitz, Ivan P; Quertermous, Thomas; Sankaran, Vijay G; Schwartz, David A; Silverman, Edwin K; Zhou, Xiaobo; Hasan, Ahmed A K; Luo, Xiao-Zhong James

2018-04-01

The National Institutes of Health have made substantial investments in genomic studies and technologies to identify DNA sequence variants associated with human disease phenotypes. The National Heart, Lung, and Blood Institute has been at the forefront of these commitments to ascertain genetic variation associated with heart, lung, blood, and sleep diseases and related clinical traits. Genome-wide association studies, exome- and genome-sequencing studies, and exome-genotyping studies of the National Heart, Lung, and Blood Institute-funded epidemiological and clinical case-control studies are identifying large numbers of genetic variants associated with heart, lung, blood, and sleep phenotypes. However, investigators face challenges in identification of genomic variants that are functionally disruptive among the myriad of computationally implicated variants. Studies to define mechanisms of genetic disruption encoded by computationally identified genomic variants require reproducible, adaptable, and inexpensive methods to screen candidate variant and gene function. High-throughput strategies will permit a tiered variant discovery and genetic mechanism approach that begins with rapid functional screening of a large number of computationally implicated variants and genes for discovery of those that merit mechanistic investigation. As such, improved variant-to-gene and gene-to-function screens-and adequate support for such studies-are critical to accelerating the translation of genomic findings. In this White Paper, we outline the variety of novel technologies, assays, and model systems that are making such screens faster, cheaper, and more accurate, referencing published work and ongoing work supported by the National Heart, Lung, and Blood Institute's R21/R33 Functional Assays to Screen Genomic Hits program. We discuss priorities that can accelerate the impressive but incomplete progress represented by big data genomic research. © 2018 American Heart Association, Inc.

The role of p66Shc deletion in age-associated arterial dysfunction and disease states.

PubMed

Camici, Giovanni G; Cosentino, Francesco; Tanner, Felix C; Lüscher, Thomas F

2008-11-01

Accumulation of oxidative stress with age is hypothesized to be the primary causative mediator of age-associated diseases. Among different tissues, aging vessels are known to accumulate oxidative damage and undergo functional impairment. Oxidative stress affects the availability and/or balance of key regulators of vascular homeostasis and favors the development of cardiovascular disease. Reactive oxygen species are generated by different intracellular molecular pathways principally located in the cytoplasm and in the mitochondria. The mitochondrial enzyme p66Shc is an adaptor protein and plays an important role as a redox enzyme implicated in mitochondrial reactive oxygen species generation and translation of oxidative signals into apoptosis. Mice lacking p66Shc-/- gene display reduced production of intracellular oxidants and a 30% prolonged life span. For this reasons, a series of studies conceived to elucidate the function of p66Shc and its possible implication in age-associated cardiovascular diseases have been carried out. Indeed, p66Shc-/- mice have been shown to be protected from age-dependent endothelial dysfunction as well as age-related risk factors such as diabetes and hypercholesterolemia. This review focuses on delineating the role of the p66Shc adaptor protein and its potential implication in the pathophysiology of aging and age-related cardiovascular disease.

Health and Social Problems Associated with Prescription Opioid Misuse Among a Diverse Sample of High Risk Substance-Using MSM

PubMed Central

Buttram, Mance E.; Kurtz, Steven P.; Surratt, Hilary L.; Levi-Minzi, Maria A.

2013-01-01

This study examines associations between prescription opioid misuse and demographics, substance use, sexual behavior, and related health and social problems. Baseline data were collected between 2008 and 2010 from 515 high risk men who have sex with men (MSM), ages 18–55, in the Miami-Ft. Lauderdale metropolitan area who reported heavy substance use and HIV risk in the past 90 days. Prescription opioid misuse was associated with other substance use, drug injection, substance dependence, and history of arrest. Implications, limitations, and directions for future study are discussed. PMID:23971894

The Allocation of Federal Expenditures Among States

NASA Technical Reports Server (NTRS)

Lee, Maw Lin

1967-01-01

This study explores factors associated with the allocation offederal expenditures by states and examines the implications of theseexpenditures on the state by state distribution of incomes. Theallocation of federal expenditures is functionally oriented toward theobjectives for which various government programs are set up. Thegeographical distribution of federal expenditures, therefore, washistorically considered to be a problem incidental to governmentactivity. Because of this, relatively little attention was given tothe question of why some states receive more federal allocation thanothers. In addition, the implications of this pattern of allocationamong the several states have not been intensively investigated.

Genetic association studies of glutamate, GABA and related genes in schizophrenia and bipolar disorder: a decade of advance.

PubMed

Cherlyn, Suat Ying Tan; Woon, Puay San; Liu, Jian Jun; Ong, Wei Yi; Tsai, Guo Chuan; Sim, Kang

2010-05-01

Schizophrenia (SZ) and bipolar disorder (BD) are debilitating neurobehavioural disorders likely influenced by genetic and non-genetic factors and which can be seen as complex disorders of synaptic neurotransmission. The glutamatergic and GABAergic neurotransmission systems have been implicated in both diseases and we have reviewed extensive literature over a decade for evidence to support the association of glutamate and GABA genes in SZ and BD. Candidate-gene based population and family association studies have implicated some ionotrophic glutamate receptor genes (GRIN1, GRIN2A, GRIN2B and GRIK3), metabotropic glutamate receptor genes (such as GRM3), the G72/G30 locus and GABAergic genes (e.g. GAD1 and GABRB2) in both illnesses to varying degrees, but further replication studies are needed to validate these results. There is at present no consensus on specific single nucleotide polymorphisms or haplotypes associated with the particular candidate gene loci in these illnesses. The genetic architecture of glutamate systems in bipolar disorder need to be better studied in view of recent data suggesting an overlap in the genetic aetiology of SZ and BD. There is a pressing need to integrate research platforms in genomics, epistatic models, proteomics, metabolomics, neuroimaging technology and translational studies in order to allow a more integrated understanding of glutamate and GABAergic signalling processes and aberrations in SZ and BD as well as their relationships with clinical presentations and treatment progress over time. (c) 2010 Elsevier Ltd. All rights reserved.

Arginine vasopressin 1a receptor RS3 promoter microsatellites in schizophrenia: a study of the effect of the "risk" allele on clinical symptoms and facial affect recognition.

PubMed

Golimbet, Vera; Alfimova, Margarita; Abramova, Lilia; Kaleda, Vasily; Gritsenko, Inga

2015-02-28

We studied AVPR1A RS3 polymorphism in schizophrenic patients and controls. AVPR1A RS3 was not associated with schizophrenia. The allele 327bp implicated in autism and social behavior was associated with negative symptoms and tended to be linked to patient facial affect recognition suggesting its impact on schizophrenia social phenotypes. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

Recommendations and Guidelines, The Incorporation of Results of Current Crustal Evolution Studies into K-12 Curricula. A Report of the National Association of Geology Teachers Conference on K-12 Crustal Evolution Education (Western Hills State Lodge, Oklahoma, September 16-18, 1974).

ERIC Educational Resources Information Center

Stoever, Edward C., Jr.

The National Association of Geology Teachers (NAGT) conducted an assessment of the implications of current studies encompassing the theories of continental drift, polar wandering, sea-floor spreading, and plate tectonics to K-12 education, and presented in this document recommendations for the incorporation of these concepts into school curricula.…

Which Foods May Be Addictive? The Roles of Processing, Fat Content, and Glycemic Load

PubMed Central

Schulte, Erica M.; Avena, Nicole M.; Gearhardt, Ashley N.

2015-01-01

Objectives We propose that highly processed foods share pharmacokinetic properties (e.g. concentrated dose, rapid rate of absorption) with drugs of abuse, due to the addition of fat and/or refined carbohydrates and the rapid rate the refined carbohydrates are absorbed into the system, indicated by glycemic load (GL). The current study provides preliminary evidence for the foods and food attributes implicated in addictive-like eating. Design Cross-sectional. Setting University (Study One) and community (Study Two). Participants 120 undergraduates participated in Study One and 384 participants recruited through Amazon MTurk participated in Study Two. Measurements In Study One, participants (n = 120) completed the Yale Food Addiction Scale (YFAS) followed by a forced-choice task to indicate which foods, out of 35 foods varying in nutritional composition, were most associated with addictive-like eating behaviors. Using the same 35 foods, Study Two utilized hierarchical linear modeling to investigate which food attributes (e.g., fat grams) were related to addictive-like eating behavior (at level one) and explored the influence of individual differences for this association (at level two). Results In Study One, processed foods, higher in fat and GL, were most frequently associated with addictive-like eating behaviors. In Study Two, processing was a large, positive predictor for whether a food was associated with problematic, addictive-like eating behaviors. BMI and YFAS symptom count were small-to-moderate, positive predictors for this association. In a separate model, fat and GL were large, positive predictors of problematic food ratings. YFAS symptom count was a small, positive predictor of the relationship between GL and food ratings. Conclusion The current study provides preliminary evidence that not all foods are equally implicated in addictive-like eating behavior, and highly processed foods, which may share characteristics with drugs of abuse (e.g. high dose, rapid rate of absorption) appear to be particularly associated with “food addiction.” PMID:25692302

Which foods may be addictive? The roles of processing, fat content, and glycemic load.

PubMed

Schulte, Erica M; Avena, Nicole M; Gearhardt, Ashley N

2015-01-01

We propose that highly processed foods share pharmacokinetic properties (e.g. concentrated dose, rapid rate of absorption) with drugs of abuse, due to the addition of fat and/or refined carbohydrates and the rapid rate the refined carbohydrates are absorbed into the system, indicated by glycemic load (GL). The current study provides preliminary evidence for the foods and food attributes implicated in addictive-like eating. Cross-sectional. University (Study One) and community (Study Two). 120 undergraduates participated in Study One and 384 participants recruited through Amazon MTurk participated in Study Two. In Study One, participants (n = 120) completed the Yale Food Addiction Scale (YFAS) followed by a forced-choice task to indicate which foods, out of 35 foods varying in nutritional composition, were most associated with addictive-like eating behaviors. Using the same 35 foods, Study Two utilized hierarchical linear modeling to investigate which food attributes (e.g., fat grams) were related to addictive-like eating behavior (at level one) and explored the influence of individual differences for this association (at level two). In Study One, processed foods, higher in fat and GL, were most frequently associated with addictive-like eating behaviors. In Study Two, processing was a large, positive predictor for whether a food was associated with problematic, addictive-like eating behaviors. BMI and YFAS symptom count were small-to-moderate, positive predictors for this association. In a separate model, fat and GL were large, positive predictors of problematic food ratings. YFAS symptom count was a small, positive predictor of the relationship between GL and food ratings. The current study provides preliminary evidence that not all foods are equally implicated in addictive-like eating behavior, and highly processed foods, which may share characteristics with drugs of abuse (e.g. high dose, rapid rate of absorption) appear to be particularly associated with "food addiction."

Chinese Students' Perceptions of the Teaching in an Australian Accounting Programme--An Exploratory Study

ERIC Educational Resources Information Center

Wong, Grace; Cooper, Barry J.; Dellaportas, Steven

2015-01-01

This exploratory study is designed to elicit and understand the views of Mainland Chinese students concerning their learning experience in an Australian accounting education programme. The article contributes to the literature by investigating the issues and implications associated with international students' perceptions of teaching, as little…

Comparing the Effects of Instructional and Transformational Leadership on Student Achievement: Implications for Practice

ERIC Educational Resources Information Center

Shatzer, Ryan H.; Caldarella, Paul; Hallam, Pamela R.; Brown, Bruce L.

2014-01-01

The purpose of this study was to compare transformational and instructional leadership theories, examine the unique impact that school leaders have on student achievement, and determine which specific leadership practices are associated with increased student achievement. The sample for this study consisted of 590 teachers in 37 elementary schools…

Individual Differences in Mathematical Competence Modulate Brain Responses to Arithmetic Errors: An fMRI Study

ERIC Educational Resources Information Center

Ansari, Daniel; Grabner, Roland H.; Koschutnig, Karl; Reishofer, Gernot; Ebner, Franz

2011-01-01

Data from both neuropsychological and neuroimaging studies have implicated the left inferior parietal cortex in calculation. Comparatively less attention has been paid to the neural responses associated with the commission of calculation errors and how the processing of arithmetic errors is modulated by individual differences in mathematical…

Hyporesponsive Reward Anticipation in the Basal Ganglia following Severe Institutional Deprivation Early in Life

ERIC Educational Resources Information Center

Mehta, Mitul A.; Gore-Langton, Emma; Golembo, Nicole; Colvert, Emma; Williams, Steven C. R.; Sonuga-Barke, Edmund

2010-01-01

Severe deprivation in the first few years of life is associated with multiple difficulties in cognition and behavior. However, the brain basis for these difficulties is poorly understood. Structural and functional neuroimaging studies have implicated limbic system structures as dysfunctional, and one functional imaging study in a heterogeneous…

Hyporesponsive reward anticipation in the basal ganglia following severe institutional deprivation early in life.

PubMed

Mehta, Mitul A; Gore-Langton, Emma; Golembo, Nicole; Colvert, Emma; Williams, Steven C R; Sonuga-Barke, Edmund

2010-10-01

Severe deprivation in the first few years of life is associated with multiple difficulties in cognition and behavior. However, the brain basis for these difficulties is poorly understood. Structural and functional neuroimaging studies have implicated limbic system structures as dysfunctional, and one functional imaging study in a heterogeneous group of maltreated individuals has confirmed the presence of abnormalities in the basal ganglia. Based on these studies and known dopaminergic abnormalities from studies in experimental animals using social isolation, we used a task of monetary reward anticipation to examine the functional integrity of brain regions previously shown to be implicated in reward processing. Our sample included a group of adolescents (n = 12) who had experienced global deprivation early in their lives in Romania prior to adoption into UK families. In contrast to a nonadopted comparison group (n = 11), the adoptees did not recruit the striatum during reward anticipation despite comparable performance accuracy and latency. These results show, for the first time, an association between early institutional deprivation and brain reward systems in humans and highlight potential neural vulnerabilities resulting from such exposures.

Association of CLU and PICALM variants with Alzheimer's disease

PubMed Central

Kamboh, M.I.; Minster, R. L.; Demirci, F.Y.; Ganguli, M.; DeKosky, S.T.; Lopez, O.L.; Barmada, M.M.

2010-01-01

Two recent large genome-wide association studies have reported significant associations in the CLU (APOJ), CR1 and PICALM genes. In order to replicate these findings, we examined 7 single nucleotide polymorphisms (SNPs) most significantly implicated by these studies in a large case-control sample comprising of 2,707 individuals. Principle components analysis revealed no population substructure in our sample. While no association was observed with CR1 SNPs (P=0.30–0.457), a trend of association was seen with the PICALM (P=0.071–0.086) and CLU (P=0.148–0.258) SNPs. A meta-analysis of three studies revealed significant associations with all three genes. Our data from an independent and large case-control sample suggest that these gene regions should be followed up by comprehensive resequencing to find functional variants. PMID:20570404

Prevalence and Factors Associated With Severe Physical Intimate Partner Violence Among U.S. Black Women: A Comparison of African American and Caribbean Blacks

PubMed Central

Lacey, Krim K.; West, Carolyn M.; Matusko, Niki; Jackson, James S.

2018-01-01

This study explored prevalence rates and factors associated with lifetime severe physical intimate partner violence among U.S. Black women. Data from the National Survey of American Life were examined. Rates of severe physical intimate partner violence were higher among African American women compared with U.S. Caribbean Black women. Risk factors associated with reported abuse were similar to those found in earlier studies but differed by ethnic backgrounds. Demographic, resource, and situational factors were associated with severe physical intimate partner violence among U.S. Black women in general but made unique contributions by ethnic group. Implications and suggestions for future studies were discussed. PMID:26503860

Loss of function studies in mice and genetic association link receptor protein tyrosine phosphatase α to schizophrenia

PubMed Central

Takahashi, Nagahide; Nielsen, Karin Sandager; Aleksic, Branko; Petersen, Steffen; Ikeda, Masashi; Kushima, Itaru; Vacaresse, Nathalie; Ujike, Hiroshi; Iwata, Nakao; Dubreuil, Véronique; Mirza, Naheed; Sakurai, Takeshi; Ozaki, Norio; Buxbaum, Joseph D.; Sap, Jan

2011-01-01

Background Solid evidence links schizophrenia (SZ) susceptibility to neurodevelopmental processes involving tyrosine phosphorylation-mediated signaling. Mouse studies implicate the Ptpra gene, encoding protein tyrosine phosphatase RPTPα, in the control of radial neuronal migration, cortical cytoarchitecture, and oligodendrocyte differentiation. The human gene encoding RPTPα, PTPRA, maps to a chromosomal region (20p13) associated with susceptibility to psychotic illness. Methods We characterized neurobehavioral parameters, as well as gene expression in the central nervous system, of mice with a null mutation in the Ptpra gene. We searched for genetic association between polymorphisms in PTPRA and schizophrenia risk (2 independent cohorts; total of 1420 cases and 1377 controls), and we monitored PTPRA expression in prefrontal dorsolateral cortex of SZ patients (35 cases, 2 control groups of 35 cases) Results We find that Ptpra−/− mice reproduce neurobehavioral endophenotypes of human SZ: sensitization to metamphetamine-induced hyperactivity, defective sensorimotor gating, and defective habituation to a startle response. Ptpra loss of function also leads to reduced expression of multiple myelination genes, mimicking the hypomyelination-associated changes in gene expression observed in post mortem patient brains. We further report that a polymorphism at the PTPRA locus is genetically associated with SZ, and that PTPRA mRNA levels are reduced in post mortem dorsolateral prefrontal cortex of subjects with SZ. Conclusion The implication of this well-studied signaling protein in SZ risk and endophenotype manifestation provides novel entry points into the etiopathology of this disease. PMID:21831360

Genome-wide association study of 25(OH) Vitamin D concentrations in Punjabi Sikhs: Results of the Asian Indian diabetic heart study.

PubMed

Sapkota, Bishwa R; Hopkins, Ruth; Bjonnes, Andrew; Ralhan, Sarju; Wander, Gurpreet S; Mehra, Narinder K; Singh, Jai Rup; Blackett, Piers R; Saxena, Richa; Sanghera, Dharambir K

2016-04-01

Vitamin D deficiency is implicated in multiple disease conditions and accumulating evidence supports that the variation in serum vitamin D (25(OH)D) levels, including deficiency, is under strong genetic control. However, the underlying genetic mechanism associated with vitamin 25(OH)D concentrations is poorly understood. We earlier reported a very high prevalence of vitamin D deficiency associated with an increased risk for type 2 diabetes and obesity in a Punjabi Sikh diabetic cohort as part of the Asian Indian diabetic heart study (AIDHS). Here we have performed the first genome-wide association study (GWAS) of serum 25(OH)D on 3538 individuals from this Punjabi Sikh population. Our discovery GWAS comprised of 1387 subjects followed by validation of 24 putative SNPs (P<10(-4)) using an independent replication sample (n=2151) from the same population by direct genotyping. A novel locus at chromosome 20p11.21 represented by rs2207173 with minor allele frequency (MAF) 0.29, [β=-0.13, p=4.47×10(-9)] between FOXA2 and SSTR4 was identified to be associated with 25(OH)D levels. Another suggestive association signal at rs11586313 (MAF 0.54) [β=0.90; p=1.36×10(-6)] was found within the regulatory region of the IVL gene on chromosome 1q21.3. Additionally, our study replicated 3 of 5 known GWAS genes associated with 25(OH)D concentrations including GC (p=0.007) and CYP2R1 (p=0.019) reported in Europeans and the DAB1 (p=0.003), reported in Hispanics. Identification of novel association signals in biologically plausible regions with 25(OH)D metabolism will provide new molecular insights on genetic drivers of vitamin D status and its implications in health disparities. Copyright © 2015 Elsevier Ltd. All rights reserved.

Behavioral and neuroimaging evidence for overreliance on habit learning in alcohol-dependent patients

PubMed Central

Sjoerds, Z; de Wit, S; van den Brink, W; Robbins, T W; Beekman, A T F; Penninx, B W J H; Veltman, D J

2013-01-01

Substance dependence is characterized by compulsive drug-taking despite negative consequences. Animal research suggests an underlying imbalance between goal-directed and habitual action control with chronic drug use. However, this imbalance, and its associated neurophysiological mechanisms, has not yet been experimentally investigated in human drug abusers. The aim of the present study therefore was to assess the balance between goal-directed and habit-based learning and its neural correlates in abstinent alcohol-dependent (AD) patients. A total of 31 AD patients and 19 age, gender and education matched healthy controls (HC) underwent functional magnetic resonance imaging (fMRI) during completion of an instrumental learning task designed to study the balance between goal-directed and habit learning. Task performance and task-related blood oxygen level-dependent activations in the brain were compared between AD patients and healthy matched controls. Findings were additionally associated with duration and severity of alcohol dependence. The results of this study provide evidence for an overreliance on stimulus-response habit learning in AD compared with HC, which was accompanied by decreased engagement of brain areas implicated in goal-directed action (ventromedial prefrontal cortex and anterior putamen) and increased recruitment of brain areas implicated in habit learning (posterior putamen) in AD patients. In conclusion, this is the first human study to provide experimental evidence for a disturbed balance between goal-directed and habitual control by use of an instrumental learning task, and to directly implicate cortical dysfunction to overreliance on inflexible habits in AD patients. PMID:24346135

Behavioral and neuroimaging evidence for overreliance on habit learning in alcohol-dependent patients.

PubMed

Sjoerds, Z; de Wit, S; van den Brink, W; Robbins, T W; Beekman, A T F; Penninx, B W J H; Veltman, D J

2013-12-17

Substance dependence is characterized by compulsive drug-taking despite negative consequences. Animal research suggests an underlying imbalance between goal-directed and habitual action control with chronic drug use. However, this imbalance, and its associated neurophysiological mechanisms, has not yet been experimentally investigated in human drug abusers. The aim of the present study therefore was to assess the balance between goal-directed and habit-based learning and its neural correlates in abstinent alcohol-dependent (AD) patients. A total of 31 AD patients and 19 age, gender and education matched healthy controls (HC) underwent functional magnetic resonance imaging (fMRI) during completion of an instrumental learning task designed to study the balance between goal-directed and habit learning. Task performance and task-related blood oxygen level-dependent activations in the brain were compared between AD patients and healthy matched controls. Findings were additionally associated with duration and severity of alcohol dependence. The results of this study provide evidence for an overreliance on stimulus-response habit learning in AD compared with HC, which was accompanied by decreased engagement of brain areas implicated in goal-directed action (ventromedial prefrontal cortex and anterior putamen) and increased recruitment of brain areas implicated in habit learning (posterior putamen) in AD patients. In conclusion, this is the first human study to provide experimental evidence for a disturbed balance between goal-directed and habitual control by use of an instrumental learning task, and to directly implicate cortical dysfunction to overreliance on inflexible habits in AD patients.

Career Compromises: Framings and Their Implications.

ERIC Educational Resources Information Center

Gati, Itamar; Houminer, Daphna; Aviram, Tamar

1998-01-01

Career compromise was investigated in three framings (alternatives, aspect importance, within-aspect preference). Young adults and school counselors rated hypothetical stories. Results of four studies with different designs (Average N=106) supported the hypothesis. The alternatives framing was associated with greater compromise and decision…

Integrated Chemical and Toxicological Investigation of UV-Chlorine/Chloramine Drinking Water Treatment

EPA Science Inventory

As the use of alternative drinking water treatment increases, it is important to understand potential public health•implications associated with these processes. The objective of this study was to evaluate the formation of disinfection byproducts (DBPs) and cytotoxicity of ...

Atenolol Induced HDL-C Change in the Pharmacogenomic Evaluation of Antihypertensive Responses (PEAR) Study

PubMed Central

McDonough, Caitrin W.; Gillis, Nancy K.; Alsultan, Abdullah; Chang, Shin-Wen; Kawaguchi-Suzuki, Marina; Lang, Jason E.; Shahin, Mohamed Hossam A.; Buford, Thomas W.; El Rouby, Nihal M.; Sá, Ana C.C.; Langaee, Taimour Y.; Gums, John G.; Chapman, Arlene B.; Cooper-DeHoff, Rhonda M.; Turner, Stephen T.; Gong, Yan; Johnson, Julie A.

2013-01-01

We sought to identify novel pharmacogenomic markers for HDL-C response to atenolol in participants with mild to moderate hypertension. We genotyped 768 hypertensive participants from the Pharmacogenomic Evaluation of Antihypertensive Responses (PEAR) study on the Illumina HumanCVD Beadchip. During PEAR, participants were randomized to receive atenolol or hydrochlorothiazide. Blood pressure and cholesterol levels were evaluated at baseline and after treatment. This study focused on participants treated with atenolol monotherapy. Association with atenolol induced HDL-C change was evaluated in 232 whites and 152 African Americans using linear regression. No SNPs achieved a Bonferroni corrected P-value. However, we identified 13 regions with consistent association across whites and African Americans. The most interesting of these regions were seven with prior associations with HDL-C, other metabolic traits, or functional implications in the lipid pathway: GALNT2, FTO, ABCB1, LRP5, STARD3NL, ESR1, and LIPC. Examples are rs2144300 in GALNT2 in whites (P=2.29x10-4, β=-1.85 mg/dL) and rs12595985 in FTO in African Americans (P=2.90x10-4, β=4.52 mg/dL), both with consistent regional association (P<0.05) in the other race group. Additionally, baseline GALNT2 expression differed by rs2144300 genotype in whites (P=0.0279). In conclusion, we identified multiple gene regions associated with atenolol induced HDL-C change that were consistent across race groups, several with functional implications or prior associations with HDL-C. PMID:24116192

Social Workers' Perceptions of the Association Between Role Playing Games and Psychopathology.

PubMed

Ben-Ezra, Menachem; Lis, Eric; Błachnio, Agata; Ring, Lia; Lavenda, Osnat; Mahat-Shamir, Michal

2018-03-01

Whereas role-playing and table-top role-play games (RPGs) have been proven to have potential as therapeutic tools, playing RPGs is often stereotypically associated with social incompetence and psychiatric disorders. Knowledge regarding the stereotype and its implications is very scarce specifically among mental health practitioners. Therefore the present study aimed to narrow this gap in knowledge by examining the perception of Social Workers that are considered to be the forefront of mental health-care, in regard to the association between playing RPGs and mental health. A convenience sample of 130 Social Workers, recruited through social networks (e.g. Facebook, WhatsApp etc.), responded to an on-line survey dealing with their perception of their own knowledge on RPGs, the importance of such knowledge and the association between playing RPGs and mental illness. Results indicated an association between having higher knowledge of RPGs and lower perception of a link between playing RPGs and psychopathology. The study's findings emphasize the false stigma and its potential harmful implication on professionals' practice, especially in the context of intake process and primary diagnostic. The effect of familiarity is also discussed in light of the study's findings. • The perception of mental health professionals toward role playing games such as Dungeons and Dragons is understudied. • Social Workers' perception was measured in regard to the connection between use of RPGs and DSM-IV-TR psychopathology. • Greater knowledge of RPGs was found to be associated with lower perception of the connection between use of RPGs and DSM-IV-TR psychopathology.

The potential impact of biochemical mediators on telomere attrition in major depressive disorder and implications for future study designs: A narrative review.

PubMed

Manoliu, Andrei; Bosch, Oliver G; Brakowski, Janis; Brühl, Annette B; Seifritz, Erich

2018-01-01

Major depressive disorder (MDD) has been proposed to represent a "disease of premature aging", which is associated with certain biomarkers of cellular ageing and numerous other age-related diseases. Over the last decade, telomere length (TL) arose as a surrogate for cellular aging. Recent data suggests that TL might be reduced in patients with MDD, however, results are still inconclusive. This might be explained by the lack of assessment of potential biochemical mediators that are directly associated with telomere shortening and frequently observed in patients with MDD. A narrative review was performed. The PubMed database was searched for relevant studies. We identified four major mediators, which are recurrently reported in patients with MDD and are associated with reduced TL: inflammation/oxidative stress, dysregulation of the hypothalamic-pituitary-adrenal axis, metabolic dysbalance including insulin resistance, and decreased brain-derived neurotrophic factor. These mediators are also mutually associated and were not systematically assessed in current studies investigating TL and MDD, which might explain inconclusive findings across current literature. Finally, we discuss possible ways to assess those mediators and potential implications of such approaches for future research. The majority of identified studies had cross-sectional designs and used heterogeneous methods to assess TL and associated relevant biochemical mediators. A better understanding of the complex interactions between biochemical mediators, somatic comorbidities and shortened telomeres in patients with MDD might further specify the pathophysiology-based conceptualization and, based on that, personalized treatment of MDD. Copyright © 2017 Elsevier B.V. All rights reserved.

Evidence for the involvement of genetic variation in the oxytocin receptor gene (OXTR) in the etiology of autistic disorders on high-functioning level.

PubMed

Wermter, Anne-Kathrin; Kamp-Becker, Inge; Hesse, Philipp; Schulte-Körne, Gerd; Strauch, Konstantin; Remschmidt, Helmut

2010-03-05

An increasing number of animal studies advert to a substantial role of the neuropeptide oxytocin in the regulation of social attachment and affiliation. Furthermore, animal studies showed anxiety and stress-reduced effects of oxytocin. First human studies confirm these findings in animal studies and implicate a crucial role of oxytocin in human social attachment behavior and in social interactions. Thus, the oxytocin system might be involved in the impairment of social interaction and attachment in autism spectrum disorders (ASD). The human oxytocin receptor gene (OXTR) represents a plausible candidate gene for the etiology of ASD. To analyze whether genetic variants in the OXTR gene are associated with ASD we performed family-based single-marker and haplotype association analyses with 22 single nucleotide polymorphisms (SNPs) in the OXTR and its 5' region in 100 families with autistic disorders on high-functioning level (Asperger syndrome (AS), high-functioning autism (HFA), and atypical autism (AA)). Single-marker and haplotype association analyses revealed nominally significant associations of one single SNP and one haplotype with autism, respectively. Furthermore, employing a "reverse phenotyping" approach, patients carrying the haplotype associated with autism showed nominally significant impairments in comparison to noncarriers of the haplotype in items of the Autism Diagnostic Interview-Revised algorithm describing aspects of social interaction and communication. In conclusion, our results implicate that genetic variation in the OXTR gene might be relevant in the etiology of autism on high-functioning level. (c) 2009 Wiley-Liss, Inc.

Biological indicators of illness risk in offspring of bipolar parents: targeting the hypothalamic-pituitary-adrenal axis and immune system.

PubMed

Duffy, Anne; Lewitzka, Ute; Doucette, Sarah; Andreazza, Ana; Grof, Paul

2012-05-01

The study aims to provide a selective review of the literature pertaining to the hypothalamic-pituitary-adrenal (HPA) axis and immune abnormalities as informative biological indicators of vulnerability in bipolar disorder (BD). We summarize key findings relating to HPA axis and immunological abnormalities in bipolar patients and their high-risk offspring. Findings derive from a review of selected original papers published in the literature, and supplemented by papers identified through bibliography review. Neurobiological findings are discussed in the context of emergent BD in those at genetic risk and synthesized into a neurodevelopmental model of illness onset and progression. BD is associated with a number of genetic and possibly epigenetic abnormalities associated with neurotransmitter, hormonal and immunologically mediated neurobiological pathways. Data from clinical and high-risk studies implicate HPA axis and immune system abnormalities, which may represent inherited vulnerabilities important for the transition to illness onset. Post-mortem and clinical studies implicate intracellular signal transduction processes and disturbance in energy metabolism associated with established BD. Specifically, long-standing maladaptive alterations such as changes in neuronal systems may be mediated through changes in intracellular signalling pathways, oxidative stress, cellular energy metabolism and apoptosis associated with substantial burden of illness. Prospective longitudinal studies of endophenotypes and biomarkers such as HPA axis and immune abnormalities in high-risk offspring will be helpful to understand genetically mediated biological pathways associated with illness onset and progression. A clinical staging model describing emergent illness in those at genetic risk should facilitate this line of investigation. © 2011 Blackwell Publishing Asia Pty Ltd.

The Genetic Basis of Graves' Disease

PubMed Central

Płoski, Rafał; Szymański, Konrad; Bednarczuk, Tomasz

2011-01-01

The presented comprehensive review of current knowledge about genetic factors predisposing to Graves’ disease (GD) put emphasis on functional significance of observed associations. In particular, we discuss recent efforts aimed at refining diseases associations found within the HLA complex and implicating HLA class I as well as HLA-DPB1 loci. We summarize data regarding non-HLA genes such as PTPN22, CTLA4, CD40, TSHR and TG which have been extensively studied in respect to their role in GD. We review recent findings implicating variants of FCRL3 (gene for FC receptor-like-3 protein), SCGB3A2 (gene for secretory uteroglobin-related protein 1- UGRP1) as well as other unverified possible candidate genes for GD selected through their documented association with type 1 diabetes mellitus: Tenr–IL2–IL21, CAPSL (encoding calcyphosine-like protein), IFIH1(gene for interferon-induced helicase C domain 1), AFF3, CD226 and PTPN2. We also review reports on association of skewed X chromosome inactivation and fetal microchimerism with GD. Finally we discuss issues of genotype-phenotype correlations in GD. PMID:22654555

Implications of Parental Affiliate Stigma in Families of Children with ADHD

PubMed Central

Mikami, Amori Yee; Chong, Gua Khee; Saporito, Jena M.; Na, Jennifer Jiwon

2014-01-01

Objective This study examined parents’ perceptions/awareness and internalization of public courtesy stigma (affiliate stigma) about their children’s inattentive and hyperactive/impulsive symptoms, and associations between parental affiliate stigma, parental negativity expressed toward the child, and child social functioning. Method Participants were families of 63 children (ages 6–10; 42 boys) with Attention-Deficit/Hyperactivity Disorder (ADHD), assessed in a cross-sectional design. Results After statistical control of children’s severity of inattentive and hyperactive/impulsive symptoms (as reported by parents and teachers), parents’ self-reports of greater affiliate stigma were associated with more observed negative parenting. The associations between high parental affiliate stigma and children’s poorer adult informant-rated social skills and greater observed aggression were partially mediated by increased parental negativity. As well, the positive association between children’s adult informant-rated aggressive behavior and parental negativity was partially mediated by parents’ increased affiliate stigma. Conclusion Parental affiliate stigma about their children’s inattentive and hyperactive/impulsive symptoms may have negative ramifications for parent-child interactions and children’s social functioning. Clinical implications for parent training interventions are discussed. PMID:24697640

Count Your Calories and Share Them: Health Benefits of Sharing mHealth Information on Social Networking Sites.

PubMed

Oeldorf-Hirsch, Anne; High, Andrew C; Christensen, John L

2018-04-23

This study investigates the relationship between sharing tracked mobile health (mHealth) information online, supportive communication, feedback, and health behavior. Based on the Integrated Theory of mHealth, our model asserts that sharing tracked health information on social networking sites benefits users' perceptions of their health because of the supportive communication they gain from members of their online social networks and that the amount of feedback people receive moderates these associations. Users of mHealth apps (N = 511) completed an online survey, and results revealed that both sharing tracked health information and receiving feedback from an online social network were positively associated with supportive communication. Network support both corresponded with improved health behavior and mediated the association between sharing health information and users' health behavior. As users received greater amounts of feedback from their online social networks, however, the association between sharing tracked health information and health behavior decreased. Theoretical implications for sharing tracked health information and practical implications for using mHealth apps are discussed.

The association between adverse childhood experiences and adult traumatic brain injury/concussion: a scoping review.

PubMed

Ma, Zechen; Bayley, Mark T; Perrier, Laure; Dhir, Priya; Dépatie, Lana; Comper, Paul; Ruttan, Lesley; Lay, Christine; Munce, Sarah E P

2018-01-12

Adverse childhood experiences are significant risk factors for physical and mental illnesses in adulthood. Traumatic brain injury/concussion is a challenging condition where pre-injury factors may affect recovery. The association between childhood adversity and traumatic brain injury/concussion has not been previously reviewed. The research question addressed is: What is known from the existing literature about the association between adverse childhood experiences and traumatic brain injury/concussion in adults? All original studies of any type published in English since 2007 on adverse childhood experiences and traumatic brain injury/concussion outcomes were included. The literature search was conducted in multiple electronic databases. Arksey and O'Malley and Levac et al.'s scoping review frameworks were used. Two reviewers independently completed screening and data abstraction. The review yielded six observational studies. Included studies were limited to incarcerated or homeless samples, and individuals at high-risk of or with mental illnesses. Across studies, methods for childhood adversity and traumatic brain injury/concussion assessment were heterogeneous. A positive association between adverse childhood experiences and traumatic brain injury occurrence was identified. The review highlights the importance of screening and treatment of adverse childhood experiences. Future research should extend to the general population and implications on injury recovery. Implications for rehabilitation Exposure to adverse childhood experiences is associated with increased risk of traumatic brain injury. Specific types of adverse childhood experiences associated with risk of traumatic brain injury include childhood physical abuse, psychological abuse, household member incarceration, and household member drug abuse. Clinicians and researchers should inquire about adverse childhood experiences in all people with traumatic brain injury as pre-injury health conditions can affect recovery.

A picture is worth a thousand words? Not when it comes to associative memory of older adults.

PubMed

Guez, Jonathan; Lev, Dror

2016-02-01

Properties of the binding mechanism in associative recognition were studied by examining the influence of the pictorial superiority effect on the age-related associative deficit. The informative aspect of associative recognition is the recollection of the pairing. Previous findings indicate that recollection is susceptible to aging and that pictorial presentation can enhance recollection and facilitate associative recognition. Pictorial presentation was found to facilitate item recognition by both young and older adults, associative recognition by young adults, but not associative recognition by older adults. Our findings support the hypothesis that the binding mechanism in associative recognition is content independent. Theoretical implications are discussed. (c) 2016 APA, all rights reserved).

Body Mass Index in Adults with Intellectual Disability: Distribution, Associations and Service Implications--A Population-Based Prevalence Study

ERIC Educational Resources Information Center

Bhaumik, S.; Watson, J. M.; Thorp, C. F.; Tyrer, F.; McGrother, C. W.

2008-01-01

Background: Previous studies of weight problems in adults with intellectual disability (ID) have generally been small or selective and given conflicting results. The objectives of our large-scale study were to identify inequalities in weight problems between adults with ID and the general adult population, and to investigate factors associated…

Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks.

PubMed

Demenais, Florence; Margaritte-Jeannin, Patricia; Barnes, Kathleen C; Cookson, William O C; Altmüller, Janine; Ang, Wei; Barr, R Graham; Beaty, Terri H; Becker, Allan B; Beilby, John; Bisgaard, Hans; Bjornsdottir, Unnur Steina; Bleecker, Eugene; Bønnelykke, Klaus; Boomsma, Dorret I; Bouzigon, Emmanuelle; Brightling, Christopher E; Brossard, Myriam; Brusselle, Guy G; Burchard, Esteban; Burkart, Kristin M; Bush, Andrew; Chan-Yeung, Moira; Chung, Kian Fan; Couto Alves, Alexessander; Curtin, John A; Custovic, Adnan; Daley, Denise; de Jongste, Johan C; Del-Rio-Navarro, Blanca E; Donohue, Kathleen M; Duijts, Liesbeth; Eng, Celeste; Eriksson, Johan G; Farrall, Martin; Fedorova, Yuliya; Feenstra, Bjarke; Ferreira, Manuel A; Freidin, Maxim B; Gajdos, Zofia; Gauderman, Jim; Gehring, Ulrike; Geller, Frank; Genuneit, Jon; Gharib, Sina A; Gilliland, Frank; Granell, Raquel; Graves, Penelope E; Gudbjartsson, Daniel F; Haahtela, Tari; Heckbert, Susan R; Heederik, Dick; Heinrich, Joachim; Heliövaara, Markku; Henderson, John; Himes, Blanca E; Hirose, Hiroshi; Hirschhorn, Joel N; Hofman, Albert; Holt, Patrick; Hottenga, Jouke; Hudson, Thomas J; Hui, Jennie; Imboden, Medea; Ivanov, Vladimir; Jaddoe, Vincent W V; James, Alan; Janson, Christer; Jarvelin, Marjo-Riitta; Jarvis, Deborah; Jones, Graham; Jonsdottir, Ingileif; Jousilahti, Pekka; Kabesch, Michael; Kähönen, Mika; Kantor, David B; Karunas, Alexandra S; Khusnutdinova, Elza; Koppelman, Gerard H; Kozyrskyj, Anita L; Kreiner, Eskil; Kubo, Michiaki; Kumar, Rajesh; Kumar, Ashish; Kuokkanen, Mikko; Lahousse, Lies; Laitinen, Tarja; Laprise, Catherine; Lathrop, Mark; Lau, Susanne; Lee, Young-Ae; Lehtimäki, Terho; Letort, Sébastien; Levin, Albert M; Li, Guo; Liang, Liming; Loehr, Laura R; London, Stephanie J; Loth, Daan W; Manichaikul, Ani; Marenholz, Ingo; Martinez, Fernando J; Matheson, Melanie C; Mathias, Rasika A; Matsumoto, Kenji; Mbarek, Hamdi; McArdle, Wendy L; Melbye, Mads; Melén, Erik; Meyers, Deborah; Michel, Sven; Mohamdi, Hamida; Musk, Arthur W; Myers, Rachel A; Nieuwenhuis, Maartje A E; Noguchi, Emiko; O'Connor, George T; Ogorodova, Ludmila M; Palmer, Cameron D; Palotie, Aarno; Park, Julie E; Pennell, Craig E; Pershagen, Göran; Polonikov, Alexey; Postma, Dirkje S; Probst-Hensch, Nicole; Puzyrev, Valery P; Raby, Benjamin A; Raitakari, Olli T; Ramasamy, Adaikalavan; Rich, Stephen S; Robertson, Colin F; Romieu, Isabelle; Salam, Muhammad T; Salomaa, Veikko; Schlünssen, Vivi; Scott, Robert; Selivanova, Polina A; Sigsgaard, Torben; Simpson, Angela; Siroux, Valérie; Smith, Lewis J; Solodilova, Maria; Standl, Marie; Stefansson, Kari; Strachan, David P; Stricker, Bruno H; Takahashi, Atsushi; Thompson, Philip J; Thorleifsson, Gudmar; Thorsteinsdottir, Unnur; Tiesler, Carla M T; Torgerson, Dara G; Tsunoda, Tatsuhiko; Uitterlinden, André G; van der Valk, Ralf J P; Vaysse, Amaury; Vedantam, Sailaja; von Berg, Andrea; von Mutius, Erika; Vonk, Judith M; Waage, Johannes; Wareham, Nick J; Weiss, Scott T; White, Wendy B; Wickman, Magnus; Widén, Elisabeth; Willemsen, Gonneke; Williams, L Keoki; Wouters, Inge M; Yang, James J; Zhao, Jing Hua; Moffatt, Miriam F; Ober, Carole; Nicolae, Dan L

2018-01-01

We examined common variation in asthma risk by conducting a meta-analysis of worldwide asthma genome-wide association studies (23,948 asthma cases, 118,538 controls) of individuals from ethnically diverse populations. We identified five new asthma loci, found two new associations at two known asthma loci, established asthma associations at two loci previously implicated in the comorbidity of asthma plus hay fever, and confirmed nine known loci. Investigation of pleiotropy showed large overlaps in genetic variants with autoimmune and inflammatory diseases. The enrichment in enhancer marks at asthma risk loci, especially in immune cells, suggested a major role of these loci in the regulation of immunologically related mechanisms.

Confirmation of prior evidence of genetic susceptibility to alcoholism in a genome-wide association study of comorbid alcoholism and bipolar disorder.

PubMed

Lydall, Gregory John; Bass, Nicholas J; McQuillin, Andrew; Lawrence, Jacob; Anjorin, Adebayo; Kandaswamy, Radhika; Pereira, Ana; Guerrini, Irene; Curtis, David; Vine, Anna E; Sklar, Pamela; Purcell, Shaun M; Gurling, Hugh Malcolm Douglas

2011-12-01

Alcoholism and affective disorders are both strongly comorbid and heritable. We have investigated the genetic comorbidity between bipolar affective disorder and alcoholism. A genome-wide allelic association study of 506 patients from the University College London bipolar disorder case-control sample and 510 ancestrally matched supernormal controls. One hundred forty-three of the bipolar patients fulfilled the Research Diagnostic Criteria diagnosis of alcoholism. A total of 372 193 single nucleotide polymorphisms (SNPs) were genotyped. Genes previously shown to be associated with alcoholism and addiction phenotypes were then tested for association in the bipolar alcoholic sample using gene-wise permutation tests of all SNPs genotyped within a 50-kb region flanking each gene. Several central nervous system genes showed significant (P<0.05) gene-wise evidence of association with bipolar alcoholism. The genes implicated, which replicated genes previously shown to be associated with alcoholism were: cadherin 11, collagen type 11 α2, neuromedin U receptor 2, exportin7, and semaphorin-associated protein 5A. The SNPs most strongly implicated in bipolar alcoholism, but, which did not meet conventional genome-wide significance criteria were the insulin-like growth factor-binding protein 7, carboxypeptidase O, cerebellin 2, and the cadherin 12 genes. We have confirmed the role of some genes previously shown to be associated with alcoholism in the comorbid bipolar alcoholism subgroup. In this subgroup, bipolar disorder may lower the threshold for the phenotypic expression of these alcoholism susceptibility genes. We also show that some genes may independently increase susceptibility to affective disorder and alcoholism.

Divergent Expression Patterns and Function Implications of Four nanos Genes in a Hermaphroditic Fish, Epinephelus coioides

PubMed Central

Sun, Zhi-Hui; Wang, Yang; Lu, Wei-Jia; Li, Zhi; Liu, Xiao-Chun; Li, Shui-Sheng; Zhou, Li; Gui, Jian-Fang

2017-01-01

Multiple nanos genes have been characterized in several fishes, but the functional implications of their various expression patterns remain unclear. In this study, we identified and characterized four nanos genes from a hermaphroditic fish orange-spotted grouper, Epinephelus coioides. Ecnanos1a and Ecnanos1b show divergent expression patterns, and the dynamic expression change of Ecnanos1a in pituitaries during sex change is associated with testis differentiation and spermatogenesis. Ecnanos2 and Ecnanos3 might be germline stem cells (GSCs) and primordial germ cells (PGCs)-specific markers, respectively. Significantly, Ecnanos3 3′-untranslated region (UTR) is necessary for PGC specific expression, where a non-canonical “GCACGTTT” sequence is required for miR-430-mediated repression of Ecnanos3 RNA. Furthermore, grouper Dead end (Dnd) can relieve miR-430 repression in PGCs by associating with a 23 bp U-rich region (URR) in Ecnanos3 3′-UTR. The current study revealed the functional association of multiple nanos genes with PGC formation and germ cell development in orange-spotted grouper, and opened up new possibilities for developing biotechnologies through utilizing the associations between Ecnanos3 and PGCs or between Ecnanos2 and GSCs in the hermaphroditic fish. PMID:28333083

Polyunsaturated Fatty Acids and Recurrent Mood Disorders: Phenomenology, Mechanisms, and Clinical Application

PubMed Central

Messamore, Erik; Almeida, Daniel M.; Jandacek, Ronald J.; McNamara, Robert K.

2017-01-01

A body of evidence has implicated dietary deficiency in omega-3 polyunsaturated fatty acids (n-3 PUFA), including eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA), in the pathophysiology and etiology of recurrent mood disorders including major depressive disorder (MDD) and bipolar disorder. Cross-national and cross-sectional evidence suggests that greater habitual intake of n-3 PUFA is associated with reduced risk for developing mood symptoms. Meta-analyses provide strong evidence that patients with mood disorders exhibit low blood n-3 PUFA levels which are associated with increased risk for the initial development of mood symptoms in response to inflammation. While the etiology of this n-3 PUFA deficit may be multifactorial, n-3 PUFA supplementation is sufficient to correct this deficit and may also have antidepressant effects. Rodent studies suggest that n-3 PUFA deficiency during perinatal development can recapitulate key neuropathological, neurochemical, and behavioral features associated with mood disorders. Clinical neuroimaging studies suggest that low n-3 PUFA biostatus is associated with abnormalities in cortical structure and function also observed in mood disorders. Collectively, these findings implicate dietary n-3 PUFA insufficiency, particularly during development, in the pathophysiology of mood dysregulation, and support implementation of routine screening for and treatment of n-3 PUFA deficiency in patients with mood disorders. PMID:28069365

Common variants on chromosome 6p22.1 are associated with schizophrenia

PubMed Central

Shi, Jianxin; Levinson, Douglas F.; Duan, Jubao; Sanders, Alan R.; Zheng, Yonglan; Pe'er, Itsik; Dudbridge, Frank; Holmans, Peter A.; Whittemore, Alice S.; Mowry, Bryan J.; Olincy, Ann; Amin, Farooq; Cloninger, C. Robert; Silverman, Jeremy M.; Buccola, Nancy G.; Byerley, William F.; Black, Donald W.; Crowe, Raymond R.; Oksenberg, Jorge R.; Mirel, Daniel B.; Kendler, Kenneth S.; Freedman, Robert; Gejman, Pablo V.

2009-01-01

Schizophrenia, a devastating psychiatric disorder, has a prevalence of 0.5–1%, with high heritability (80–85%) and complex transmission.1 Recent studies implicate rare, large, high-penetrance copy number variants (CNVs) in some cases2, but it is not known what genes or biological mechanisms underlie susceptibility. Here we show that schizophrenia is significantly associated with single nucleotide polymorphisms (SNPs) in the extended Major Histocompatibility Complex (MHC) region on chromosome 6. We carried out a genome-wide association study (GWAS) of common SNPs in the Molecular Genetics of Schizophrenia (MGS) case-control sample, and then a meta-analysis of data from the MGS, International Schizophrenia Consortium (ISC) and SGENE datasets. No MGS finding achieved genome-wide statistical significance. In the meta-analysis of European-ancestry subjects (8,008 cases, 19,077 controls), significant association with schizophrenia was observed in a region of linkage disequilibrium on chromosome 6p22.1 (P = 9.54 × 10−9). This region includes a histone gene cluster and several immunity-related genes, possibly implicating etiologic mechanisms involving chromatin modification, transcriptional regulation, auto-immunity and/or infection. These results demonstrate that common schizophrenia susceptibility alleles can be detected. The characterization of these signals will suggest important directions for research on susceptibility mechanisms. PMID:19571809

Psoriasis and Cardiovascular Comorbidities: Focusing on Severe Vascular Events, Cardiovascular Risk Factors and Implications for Treatment

PubMed Central

Hu, Stephen Chu-Sung; Lan, Cheng-Che E.

2017-01-01

Psoriasis is a common and chronic inflammatory disease of the skin. It may impair the physical and psychosocial function of patients and lead to decreased quality of life. Traditionally, psoriasis has been regarded as a disease affecting only the skin and joints. More recently, studies have shown that psoriasis is a systemic inflammatory disorder which can be associated with various comorbidities. In particular, psoriasis is associated with an increased risk of developing severe vascular events such as myocardial infarction and stroke. In addition, the prevalence rates of cardiovascular risk factors are increased, including hypertension, diabetes mellitus, dyslipidemia, obesity, and metabolic syndrome. Consequently, mortality rates have been found to be increased and life expectancy decreased in patients with psoriasis, as compared to the general population. Various studies have also shown that systemic treatments for psoriasis, including methotrexate and tumor necrosis factor-α inhibitors, may significantly decrease cardiovascular risk. Mechanistically, the presence of common inflammatory pathways, secretion of adipokines, insulin resistance, angiogenesis, oxidative stress, microparticles, and hypercoagulability may explain the association between psoriasis and cardiometabolic disorders. In this article, we review the evidence regarding the association between psoriasis and cardiovascular comorbidities, focusing on severe vascular events, cardiovascular risk factors and implications for treatment. PMID:29065479

Parent-of-origin specific allelic associations among 106 genomic loci for age at menarche

PubMed Central

Thompson, Deborah J; Ferreira, Teresa; He, Chunyan; Chasman, Daniel I; Esko, Tõnu; Thorleifsson, Gudmar; Albrecht, Eva; Ang, Wei Q; Corre, Tanguy; Cousminer, Diana L; Feenstra, Bjarke; Franceschini, Nora; Ganna, Andrea; Johnson, Andrew D; Kjellqvist, Sanela; Lunetta, Kathryn L; McMahon, George; Nolte, Ilja M; Paternoster, Lavinia; Porcu, Eleonora; Smith, Albert V; Stolk, Lisette; Teumer, Alexander; Tšernikova, Natalia; Tikkanen, Emmi; Ulivi, Sheila; Wagner, Erin K; Amin, Najaf; Bierut, Laura J; Byrne, Enda M; Hottenga, Jouke-Jan; Koller, Daniel L; Mangino, Massimo; Pers, Tune H; Yerges-Armstrong, Laura M; Zhao, Jing Hua; Andrulis, Irene L; Anton-Culver, Hoda; Atsma, Femke; Bandinelli, Stefania; Beckmann, Matthias W; Benitez, Javier; Blomqvist, Carl; Bojesen, Stig E; Bolla, Manjeet K; Bonanni, Bernardo; Brauch, Hiltrud; Brenner, Hermann; Buring, Julie E; Chang-Claude, Jenny; Chanock, Stephen; Chen, Jinhui; Chenevix-Trench, Georgia; Collée, J. Margriet; Couch, Fergus J; Couper, David; Coveillo, Andrea D; Cox, Angela; Czene, Kamila; D’adamo, Adamo Pio; Smith, George Davey; De Vivo, Immaculata; Demerath, Ellen W; Dennis, Joe; Devilee, Peter; Dieffenbach, Aida K; Dunning, Alison M; Eiriksdottir, Gudny; Eriksson, Johan G; Fasching, Peter A; Ferrucci, Luigi; Flesch-Janys, Dieter; Flyger, Henrik; Foroud, Tatiana; Franke, Lude; Garcia, Melissa E; García-Closas, Montserrat; Geller, Frank; de Geus, Eco EJ; Giles, Graham G; Gudbjartsson, Daniel F; Gudnason, Vilmundur; Guénel, Pascal; Guo, Suiqun; Hall, Per; Hamann, Ute; Haring, Robin; Hartman, Catharina A; Heath, Andrew C; Hofman, Albert; Hooning, Maartje J; Hopper, John L; Hu, Frank B; Hunter, David J; Karasik, David; Kiel, Douglas P; Knight, Julia A; Kosma, Veli-Matti; Kutalik, Zoltan; Lai, Sandra; Lambrechts, Diether; Lindblom, Annika; Mägi, Reedik; Magnusson, Patrik K; Mannermaa, Arto; Martin, Nicholas G; Masson, Gisli; McArdle, Patrick F; McArdle, Wendy L; Melbye, Mads; Michailidou, Kyriaki; Mihailov, Evelin; Milani, Lili; Milne, Roger L; Nevanlinna, Heli; Neven, Patrick; Nohr, Ellen A; Oldehinkel, Albertine J; Oostra, Ben A; Palotie, Aarno; Peacock, Munro; Pedersen, Nancy L; Peterlongo, Paolo; Peto, Julian; Pharoah, Paul DP; Postma, Dirkje S; Pouta, Anneli; Pylkäs, Katri; Radice, Paolo; Ring, Susan; Rivadeneira, Fernando; Robino, Antonietta; Rose, Lynda M; Rudolph, Anja; Salomaa, Veikko; Sanna, Serena; Schlessinger, David; Schmidt, Marjanka K; Southey, Mellissa C; Sovio, Ulla; Stampfer, Meir J; Stöckl, Doris; Storniolo, Anna M; Timpson, Nicholas J; Tyrer, Jonathan; Visser, Jenny A; Vollenweider, Peter; Völzke, Henry; Waeber, Gerard; Waldenberger, Melanie; Wallaschofski, Henri; Wang, Qin; Willemsen, Gonneke; Winqvist, Robert; Wolffenbuttel, Bruce HR; Wright, Margaret J; Boomsma, Dorret I; Econs, Michael J; Khaw, Kay-Tee; Loos, Ruth JF; McCarthy, Mark I; Montgomery, Grant W; Rice, John P; Streeten, Elizabeth A; Thorsteinsdottir, Unnur; van Duijn, Cornelia M; Alizadeh, Behrooz Z; Bergmann, Sven; Boerwinkle, Eric; Boyd, Heather A; Crisponi, Laura; Gasparini, Paolo; Gieger, Christian; Harris, Tamara B; Ingelsson, Erik; Järvelin, Marjo-Riitta; Kraft, Peter; Lawlor, Debbie; Metspalu, Andres; Pennell, Craig E; Ridker, Paul M; Snieder, Harold; Sørensen, Thorkild IA; Spector, Tim D; Strachan, David P; Uitterlinden, André G; Wareham, Nicholas J; Widen, Elisabeth; Zygmunt, Marek; Murray, Anna; Easton, Douglas F

2014-01-01

Age at menarche is a marker of timing of puberty in females. It varies widely between individuals, is a heritable trait and is associated with risks for obesity, type 2 diabetes, cardiovascular disease, breast cancer and all-cause mortality1. Studies of rare human disorders of puberty and animal models point to a complex hypothalamic-pituitary-hormonal regulation2,3, but the mechanisms that determine pubertal timing and underlie its links to disease risk remain unclear. Here, using genome-wide and custom-genotyping arrays in up to 182,416 women of European descent from 57 studies, we found robust evidence (P<5×10−8) for 123 signals at 106 genomic loci associated with age at menarche. Many loci were associated with other pubertal traits in both sexes, and there was substantial overlap with genes implicated in body mass index and various diseases, including rare disorders of puberty. Menarche signals were enriched in imprinted regions, with three loci (DLK1/WDR25, MKRN3/MAGEL2 and KCNK9) demonstrating parent-of-origin specific associations concordant with known parental expression patterns. Pathway analyses implicated nuclear hormone receptors, particularly retinoic acid and gamma-aminobutyric acid-B2 receptor signaling, among novel mechanisms that regulate pubertal timing in humans. Our findings suggest a genetic architecture involving at least hundreds of common variants in the coordinated timing of the pubertal transition. PMID:25231870

Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.

PubMed

Perry, John Rb; Day, Felix; Elks, Cathy E; Sulem, Patrick; Thompson, Deborah J; Ferreira, Teresa; He, Chunyan; Chasman, Daniel I; Esko, Tõnu; Thorleifsson, Gudmar; Albrecht, Eva; Ang, Wei Q; Corre, Tanguy; Cousminer, Diana L; Feenstra, Bjarke; Franceschini, Nora; Ganna, Andrea; Johnson, Andrew D; Kjellqvist, Sanela; Lunetta, Kathryn L; McMahon, George; Nolte, Ilja M; Paternoster, Lavinia; Porcu, Eleonora; Smith, Albert V; Stolk, Lisette; Teumer, Alexander; Tšernikova, Natalia; Tikkanen, Emmi; Ulivi, Sheila; Wagner, Erin K; Amin, Najaf; Bierut, Laura J; Byrne, Enda M; Hottenga, Jouke-Jan; Koller, Daniel L; Mangino, Massimo; Pers, Tune H; Yerges-Armstrong, Laura M; Zhao, Jing Hua; Andrulis, Irene L; Anton-Culver, Hoda; Atsma, Femke; Bandinelli, Stefania; Beckmann, Matthias W; Benitez, Javier; Blomqvist, Carl; Bojesen, Stig E; Bolla, Manjeet K; Bonanni, Bernardo; Brauch, Hiltrud; Brenner, Hermann; Buring, Julie E; Chang-Claude, Jenny; Chanock, Stephen; Chen, Jinhui; Chenevix-Trench, Georgia; Collée, J Margriet; Couch, Fergus J; Couper, David; Coveillo, Andrea D; Cox, Angela; Czene, Kamila; D'adamo, Adamo Pio; Smith, George Davey; De Vivo, Immaculata; Demerath, Ellen W; Dennis, Joe; Devilee, Peter; Dieffenbach, Aida K; Dunning, Alison M; Eiriksdottir, Gudny; Eriksson, Johan G; Fasching, Peter A; Ferrucci, Luigi; Flesch-Janys, Dieter; Flyger, Henrik; Foroud, Tatiana; Franke, Lude; Garcia, Melissa E; García-Closas, Montserrat; Geller, Frank; de Geus, Eco Ej; Giles, Graham G; Gudbjartsson, Daniel F; Gudnason, Vilmundur; Guénel, Pascal; Guo, Suiqun; Hall, Per; Hamann, Ute; Haring, Robin; Hartman, Catharina A; Heath, Andrew C; Hofman, Albert; Hooning, Maartje J; Hopper, John L; Hu, Frank B; Hunter, David J; Karasik, David; Kiel, Douglas P; Knight, Julia A; Kosma, Veli-Matti; Kutalik, Zoltan; Lai, Sandra; Lambrechts, Diether; Lindblom, Annika; Mägi, Reedik; Magnusson, Patrik K; Mannermaa, Arto; Martin, Nicholas G; Masson, Gisli; McArdle, Patrick F; McArdle, Wendy L; Melbye, Mads; Michailidou, Kyriaki; Mihailov, Evelin; Milani, Lili; Milne, Roger L; Nevanlinna, Heli; Neven, Patrick; Nohr, Ellen A; Oldehinkel, Albertine J; Oostra, Ben A; Palotie, Aarno; Peacock, Munro; Pedersen, Nancy L; Peterlongo, Paolo; Peto, Julian; Pharoah, Paul Dp; Postma, Dirkje S; Pouta, Anneli; Pylkäs, Katri; Radice, Paolo; Ring, Susan; Rivadeneira, Fernando; Robino, Antonietta; Rose, Lynda M; Rudolph, Anja; Salomaa, Veikko; Sanna, Serena; Schlessinger, David; Schmidt, Marjanka K; Southey, Mellissa C; Sovio, Ulla; Stampfer, Meir J; Stöckl, Doris; Storniolo, Anna M; Timpson, Nicholas J; Tyrer, Jonathan; Visser, Jenny A; Vollenweider, Peter; Völzke, Henry; Waeber, Gerard; Waldenberger, Melanie; Wallaschofski, Henri; Wang, Qin; Willemsen, Gonneke; Winqvist, Robert; Wolffenbuttel, Bruce Hr; Wright, Margaret J; Boomsma, Dorret I; Econs, Michael J; Khaw, Kay-Tee; Loos, Ruth Jf; McCarthy, Mark I; Montgomery, Grant W; Rice, John P; Streeten, Elizabeth A; Thorsteinsdottir, Unnur; van Duijn, Cornelia M; Alizadeh, Behrooz Z; Bergmann, Sven; Boerwinkle, Eric; Boyd, Heather A; Crisponi, Laura; Gasparini, Paolo; Gieger, Christian; Harris, Tamara B; Ingelsson, Erik; Järvelin, Marjo-Riitta; Kraft, Peter; Lawlor, Debbie; Metspalu, Andres; Pennell, Craig E; Ridker, Paul M; Snieder, Harold; Sørensen, Thorkild Ia; Spector, Tim D; Strachan, David P; Uitterlinden, André G; Wareham, Nicholas J; Widen, Elisabeth; Zygmunt, Marek; Murray, Anna; Easton, Douglas F; Stefansson, Kari; Murabito, Joanne M; Ong, Ken K

2014-10-02

Age at menarche is a marker of timing of puberty in females. It varies widely between individuals, is a heritable trait and is associated with risks for obesity, type 2 diabetes, cardiovascular disease, breast cancer and all-cause mortality. Studies of rare human disorders of puberty and animal models point to a complex hypothalamic-pituitary-hormonal regulation, but the mechanisms that determine pubertal timing and underlie its links to disease risk remain unclear. Here, using genome-wide and custom-genotyping arrays in up to 182,416 women of European descent from 57 studies, we found robust evidence (P < 5 × 10(-8)) for 123 signals at 106 genomic loci associated with age at menarche. Many loci were associated with other pubertal traits in both sexes, and there was substantial overlap with genes implicated in body mass index and various diseases, including rare disorders of puberty. Menarche signals were enriched in imprinted regions, with three loci (DLK1-WDR25, MKRN3-MAGEL2 and KCNK9) demonstrating parent-of-origin-specific associations concordant with known parental expression patterns. Pathway analyses implicated nuclear hormone receptors, particularly retinoic acid and γ-aminobutyric acid-B2 receptor signalling, among novel mechanisms that regulate pubertal timing in humans. Our findings suggest a genetic architecture involving at least hundreds of common variants in the coordinated timing of the pubertal transition.

Unique cortical physiology associated with ipsilateral hand movements and neuroprosthetic implications.

PubMed

Wisneski, Kimberly J; Anderson, Nicholas; Schalk, Gerwin; Smyth, Matt; Moran, Daniel; Leuthardt, Eric C

2008-12-01

Brain computer interfaces (BCIs) offer little direct benefit to patients with hemispheric stroke because current platforms rely on signals derived from the contralateral motor cortex (the same region injured by the stroke). For BCIs to assist hemiparetic patients, the implant must use unaffected cortex ipsilateral to the affected limb. This requires the identification of distinct electrophysiological features from the motor cortex associated with ipsilateral hand movements. In this study we studied 6 patients undergoing temporary placement of intracranial electrode arrays. Electrocorticographic (ECoG) signals were recorded while the subjects engaged in specific ipsilateral or contralateral hand motor tasks. Spectral changes were identified with regards to frequency, location, and timing. Ipsilateral hand movements were associated with electrophysiological changes that occur in lower frequency spectra, at distinct anatomic locations, and earlier than changes associated with contralateral hand movements. In a subset of 3 patients, features specific to ipsilateral and contralateral hand movements were used to control a cursor on a screen in real time. In ipsilateral derived control this was optimal with lower frequency spectra. There are distinctive cortical electrophysiological features associated with ipsilateral movements which can be used for device control. These findings have implications for patients with hemispheric stroke because they offer a potential methodology for which a single hemisphere can be used to enhance the function of a stroke induced hemiparesis.

Association between violent behaviour and impaired prepulse inhibition of the startle response in antisocial personality disorder and schizophrenia.

PubMed

Kumari, Veena; Das, Mrigen; Hodgins, Sheilagh; Zachariah, Elizabeth; Barkataki, Ian; Howlett, Michael; Sharma, Tonmoy

2005-03-07

Violent behaviour has a strong association with antisocial personality disorder (APD) and schizophrenia. Although developments in the understanding of socio-environmental factors associated with violence should not be ignored, advances in prevention and treatment of violent behaviour would benefit by improved understanding of its neurobiological and cognitive basis. The authors, therefore, investigated prepulse inhibition (PPI) of the startle response in APD and schizophrenia in relation to a history of serious violence. The neural substrates of PPI, especially the hippocampus, amygdala, thalamus and basal ganglia, are implicated in violence as well as in APD and schizophrenia. The study included four groups: (i) patients with APD and a history of violence, (ii) patients with schizophrenia and a history of violence, (iii) patients with schizophrenia without a history of violence, and (iv) healthy subjects with no history of violence or a mental disorder. All subjects were assessed identically on acoustic PPI. Compared to healthy subjects, significantly reduced PPI occurred in APD, violent schizophrenia and non-violent schizophrenia patients. Although PPI did not significantly differentiate the three clinical groups, high ratings of violence were modestly associated with reduced PPI across the entire study sample. Violent patients with impulsive and premeditated violence showed comparable PPI. The association between violent behaviour and impaired PPI suggests that neural structures and functions underlying PPI are implicated in (inhibition of) violence.

Downregulation of MicroRNA eca-mir-128 in Seminal Exosomes and Enhanced Expression of CXCL16 in the Stallion Reproductive Tract Are Associated with Long-Term Persistence of Equine Arteritis Virus.

PubMed

Carossino, Mariano; Dini, Pouya; Kalbfleisch, Theodore S; Loynachan, Alan T; Canisso, Igor F; Shuck, Kathleen M; Timoney, Peter J; Cook, R Frank; Balasuriya, Udeni B R

2018-05-01

Equine arteritis virus (EAV) can establish long-term persistent infection in the reproductive tract of stallions and is shed in the semen. Previous studies showed that long-term persistence is associated with a specific allele of the CXCL16 gene ( CXCL16S ) and that persistent infection is maintained despite the presence of a local inflammatory and humoral and mucosal antibody responses. In this study, we demonstrated that equine seminal exosomes (SEs) are enriched in a small subset of microRNAs (miRNAs). Most importantly, we demonstrated that long-term EAV persistence is associated with the downregulation of an SE-associated miRNA (eca-mir-128) and with an enhanced expression of CXCL16 in the reproductive tract, a putative target of eca-mir-128. The findings presented here suggest that SE eca-mir-128 is implicated in the regulation of the CXCL16/CXCR6 axis in the reproductive tract of persistently infected stallions, a chemokine axis strongly implicated in EAV persistence. This is a novel finding and warrants further investigation to identify its specific mechanism in modulating the CXCL16/CXCR6 axis in the reproductive tract of the EAV long-term carrier stallion. IMPORTANCE Equine arteritis virus (EAV) has the ability to establish long-term persistent infection in the stallion reproductive tract and to be shed in semen, which jeopardizes its worldwide control. Currently, the molecular mechanisms of viral persistence are being unraveled, and these are essential for the development of effective therapeutics to eliminate persistent infection. Recently, it has been determined that long-term persistence is associated with a specific allele of the CXCL16 gene ( CXCL16S ) and is maintained despite induction of local inflammatory, humoral, and mucosal antibody responses. This study demonstrated that long-term persistence is associated with the downregulation of seminal exosome miRNA eca-mir-128 and enhanced expression of its putative target, CXCL16, in the reproductive tract. For the first time, this study suggests complex interactions between eca-mir-128 and cellular elements at the site of EAV persistence and implicates this miRNA in the regulation of the CXCL16/CXCR6 axis in the reproductive tract during long-term persistence. Copyright © 2018 American Society for Microbiology.

Candidate genes for aggression and antisocial behavior: a meta-analysis of association studies of the 5HTTLPR and MAOA-uVNTR.

PubMed

Ficks, Courtney A; Waldman, Irwin D

2014-09-01

Variation in central serotonin levels due to genetic mutations or experimental modifications has been associated with the manifestation of aggression in humans and animals. Many studies have examined whether common variants in serotonergic genes are implicated in aggressive or antisocial behaviors (ASB) in human samples. The two most commonly studied polymorphisms have been the serotonin transporter linked polymorphic region of the serotonin transporter gene (5HTTLPR) and the 30 base pair variable number of tandem repeats of the monoamine oxidase A gene (MAOA-uVNTR). Despite the aforementioned theoretical justification for these polymorphisms, findings across studies have been mixed and are thus difficult to interpret. A meta-analysis of associations of the 5HTTLPR and MAOA-uVNTR with ASB was conducted to determine: (1) the overall magnitude of effects for each polymorphism, (2) the extent of heterogeneity in effect sizes across studies and the likelihood of publication bias, and (3) whether sample-level or study-level characteristics could explain observed heterogeneity across studies. Both the 5HTTLPR and the MAOA-uVNTR were significantly associated with ASB across studies. There was also significant and substantial heterogeneity in the effect sizes for both markers, but this heterogeneity was not explained by any sample-level or study-level characteristics examined. We did not find any evidence for publication bias across studies for the MAOA-uVNTR, but there was evidence for an oversampling of statistically significant effect sizes for the 5HTTLPR. These findings provide support for the modest role of common serotonergic variants in ASB. Implications regarding the role of serotonin in antisocial behavior and the conceptualization of antisocial and aggressive phenotypes are discussed.

Epigenetic profiling of ADHD symptoms trajectories: a prospective, methylome-wide study.

PubMed

Walton, E; Pingault, J-B; Cecil, C A M; Gaunt, T R; Relton, C L; Mill, J; Barker, E D

2017-02-01

Attention-deficit/hyperactivity disorder (ADHD) is a prevalent developmental disorder, associated with a range of long-term impairments. Variation in DNA methylation, an epigenetic mechanism, is implicated in both neurobiological functioning and psychiatric health. However, the potential role of DNA methylation in ADHD symptoms is currently unclear. In this study, we examined data from the Avon Longitudinal Study of Parents and Children (ALSPAC)-specifically the subsample forming the Accessible Resource for Integrated Epigenomics Studies (ARIES)-that includes (1) peripheral measures of DNA methylation (Illumina 450k) at birth (n=817, 49% male) and age 7 (n=892, 50% male) and (2) trajectories of ADHD symptoms (7-15 years). We first employed a genome-wide analysis to test whether DNA methylation at birth associates with later ADHD trajectories; and then followed up at age 7 to investigate the stability of associations across early childhood. We found that DNA methylation at birth differentiated ADHD trajectories across multiple genomic locations, including probes annotated to SKI (involved in neural tube development), ZNF544 (previously implicated in ADHD), ST3GAL3 (linked to intellectual disability) and PEX2 (related to perixosomal processes). None of these probes maintained an association with ADHD trajectories at age 7. Findings lend novel insights into the epigenetic landscape of ADHD symptoms, highlighting the potential importance of DNA methylation variation in genes related to neurodevelopmental and peroxisomal processes that play a key role in the maturation and stability of cortical circuits.

The prevalence and implications of BK virus replication in non-renal solid organ transplant recipients: A systematic review.

PubMed

Viswesh, Velliyur; Yost, Sarah E; Kaplan, Bruce

2015-07-01

The significance of BK viruria and viremia in non-renal solid organ transplants is poorly understood. A systematic review was performed reviewing the incidence and implications of BK virus replication in non-renal solid organ transplants. Ninety-seven studies were identified, of which 18 including lung, heart, liver and pancreas transplants were included. The overall incidence of BK viruria and viremia was 20% and 3% respectively and 17 cases of BK nephropathy were identified. Heart transplant recipients had a higher overall incidence of BK viremia than other non-renal organ types, and the majority of cases of BK virus-associated nephropathy were in heart transplant recipients. The incidence of BK viremia was significantly lower in non-renal solid organ transplants than that of renal transplant recipients and BK virus-associated nephropathy was rare. BK virus-associated nephropathy may be considered in heart transplant recipients who have unexplained and persistent renal dysfunction not attributable to other causes. Copyright © 2015 Elsevier Inc. All rights reserved.

Skin diseases associated with Malassezia yeasts: facts and controversies.

PubMed

Gaitanis, Georgios; Velegraki, Aristea; Mayser, Peter; Bassukas, Ioannis D

2013-01-01

The implication of the yeast genus Malassezia in skin diseases has been characterized by controversy, since the first description of the fungal nature of pityriasis versicolor in 1846 by Eichstedt. This is underscored by the existence of Malassezia yeasts as commensal but also by their implication in diseases with distinct absence of inflammation despite the heavy fungal load (pityriasis versicolor) or with characteristic inflammation (eg, seborrheic dermatitis, atopic dermatitis, folliculitis, or psoriasis). The description of 14 Malassezia species and subsequent worldwide epidemiologic studies did not reveal pathogenic species but rather disease-associated subtypes within species. Emerging evidence demonstrates that the interaction of Malassezia yeasts with the skin is multifaceted and entails constituents of the fungal wall (melanin, lipid cover), enzymes (lipases, phospholipases), and metabolic products (indoles), as well as the cellular components of the epidermis (keratinocytes, dendritic cells, and melanocytes). Understanding the complexity of their interactions will highlight the controversies on the clinical presentation of Malassezia-associated diseases and unravel the complexity of skin homeostatic mechanisms. Copyright © 2013 Elsevier Inc. All rights reserved.

Future time perspective and promotion focus as determinants of intraindividual change in work motivation.

PubMed

Kooij, Dorien T A M; Bal, P Matthijs; Kanfer, Ruth

2014-06-01

In the near future, workforces will increasingly consist of older workers. At the same time, research has demonstrated that work-related growth motives decrease with age. Although this finding is consistent with life span theories, such as the selection optimization and compensation (SOC) model, we know relatively little about the process variables that bring about this change in work motivation. Therefore, we use a 4-wave study design to examine the mediating role of future time perspective and promotion focus in the negative association between age and work-related growth motives. Consistent with the SOC model, we found that future time perspective was negatively associated with age, which, in turn, was associated with lower promotion focus, lower work-related growth motive strength, and lower motivation to continue working. These findings have important theoretical implications for the literature on aging and work motivation, and practical implications for how to motivate older workers. PsycINFO Database Record (c) 2014 APA, all rights reserved.

Reduced prefrontal connectivity in psychopathy.

PubMed

Motzkin, Julian C; Newman, Joseph P; Kiehl, Kent A; Koenigs, Michael

2011-11-30

Linking psychopathy to a specific brain abnormality could have significant clinical, legal, and scientific implications. Theories on the neurobiological basis of the disorder typically propose dysfunction in a circuit involving ventromedial prefrontal cortex (vmPFC). However, to date there is limited brain imaging data to directly test whether psychopathy may indeed be associated with any structural or functional abnormality within this brain area. In this study, we employ two complementary imaging techniques to assess the structural and functional connectivity of vmPFC in psychopathic and non-psychopathic criminals. Using diffusion tensor imaging, we show that psychopathy is associated with reduced structural integrity in the right uncinate fasciculus, the primary white matter connection between vmPFC and anterior temporal lobe. Using functional magnetic resonance imaging, we show that psychopathy is associated with reduced functional connectivity between vmPFC and amygdala as well as between vmPFC and medial parietal cortex. Together, these data converge to implicate diminished vmPFC connectivity as a characteristic neurobiological feature of psychopathy.

Reduced Prefrontal Connectivity in Psychopathy

PubMed Central

Motzkin, Julian C.; Newman, Joseph P.; Kiehl, Kent A.; Koenigs, Michael

2012-01-01

Linking psychopathy to a specific brain abnormality could have significant clinical, legal, and scientific implications. Theories on the neurobiological basis of the disorder typically propose dysfunction in a circuit involving ventromedial prefrontal cortex (vmPFC). However, to date there is limited brain imaging data to directly test whether psychopathy may indeed be associated with any structural or functional abnormality within this brain area. In this study, we employ two complementary imaging techniques to assess the structural and functional connectivity of vmPFC in psychopathic and non-psychopathic criminals. Using diffusion tensor imaging, we show that psychopathy is associated with reduced structural integrity in the right uncinate fasciculus, the primary white matter connection between vmPFC and anterior temporal lobe. Using functional magnetic resonance imaging, we show that psychopathy is associated with reduced functional connectivity between vmPFC and amygdala as well as between vmPFC and medial parietal cortex. Together, these data converge to implicate diminished vmPFC connectivity as a characteristic neurobiological feature of psychopathy. PMID:22131397

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

NASA Astrophysics Data System (ADS)

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.

Child characteristics associated with outcome for children with autism in a school-based behavioral intervention.

PubMed

Pellecchia, Melanie; Connell, James E; Kerns, Connor M; Xie, Ming; Marcus, Steven C; Mandell, David S

2016-04-01

This study examined the extent to which clinical and demographic characteristics predicted outcome for children with autism spectrum disorder. Participants included 152 students with autism spectrum disorder in 53 kindergarten-through-second-grade autism support classrooms in a large urban public school district. Associations between child characteristics (including age, language ability, autism severity, social skills, adaptive behavior, co-occurring psychological symptoms, and restrictive and repetitive behavior) and outcome, as measured by changes in cognitive ability following one academic year of an intervention standardized across the sample were evaluated using linear regression with random effects for classroom. While several scales and subscales had statistically significant bivariate associations with outcome, in adjusted analysis, only age and the presence of symptoms associated with social anxiety, such as social avoidance and social fearfulness, as measured through the Child Symptom Inventory-4, were associated with differences in outcome. The findings regarding the role of social anxiety are new and have important implications for treatment. Disentangling the construct of social anxiety to differentiate between social fearfulness and social motivation has important implications for shifting the focus of early treatment for children with autism spectrum disorder. © The Author(s) 2015.

Stigma modifies the association between social support and mental health among sexual violence survivors in the Democratic Republic of Congo: implications for practice.

PubMed

Wachter, Karin; Murray, Sarah M; Hall, Brian J; Annan, Jeannie; Bolton, Paul; Bass, Judy

2018-07-01

The aim of this study was to further understanding of the relationship between social support, internalized and perceived stigma, and mental health among women who experienced sexual violence in the eastern Democratic Republic of Congo (DRC). Drawing from baseline survey data collected in eastern DRC, researchers conducted a secondary cross-sectional analysis using data from 744 participants. Regression and moderation analyses were conducted to examine associations between social support variables, felt stigma, and depression, anxiety and posttraumatic stress disorder (PTSD). Emotional support seeking and felt stigma were positively associated with increased symptom severity across all three mental health variables. Stigma modified associations between emotional support seeking and depression (t = -2.49, p = .013), anxiety (t = -3.08, p = .002), and PTSD (t = -2.94, p = .003). Increased frequency of emotional support seeking was associated with higher mental health symptoms of anxiety and PTSD among women experiencing all levels of stigma. Enhancing understanding of social support and stigma may inform research and intervention among Congolese forced migrant populations across circumstances and geographic locations. Implications for practice and research are discussed.

Ethical Issues of Predictive Genetic Testing for Diabetes

PubMed Central

Haga, Susanne B.

2009-01-01

With the rising number of individuals affected with diabetes and the significant health care costs of treatment, the emphasis on prevention is key to controlling the health burden of this disease. Several genetic and genomic studies have identified genetic variants associated with increased risk to diabetes. As a result, commercial testing is available to predict an individual's genetic risk. Although the clinical benefits of testing have not yet been demonstrated, it is worth considering some of the ethical implications of testing for this common chronic disease. In this article, I discuss several issues that should be considered during the translation of predictive testing for diabetes, including familial implications, improvement of risk communication, implications for behavioral change and health outcomes, the Genetic Information Nondiscrimination Act, direct-to-consumer testing, and appropriate age of testing. PMID:20144329

Major histocompatibility complex (MHC) class I and II alleles which confer susceptibility or protection in the Morphea in Adults and Children (MAC) cohort

PubMed Central

Jacobe, Heidi; Ahn, Chul; Arnett, Frank; Reveille, John D.

2014-01-01

Objective To determine human leukocyte antigen class I (HLA-class I) and II (HLA-class II) alleles associated with morphea (localized scleroderma) in the Morphea in Adults and Children (MAC) cohort by a nested case–control association study. Methods Morphea patients were included from MAC cohort and matched controls from the NIH/NIAMS Scleroderma Family Registry and DNA Repository and Division of Rheumatology at the University of Texas Health Science Center at Houston. HLA- Class II genotyping and SSCP typing was performed of HLA-A, -B, -C alleles. Associations between HLA-Class I and II alleles and morphea as well as its subphenotypes were determined. Results There were 211 cases available for HLA-class I typing with 726 matched controls and 158 cases available for HLA Class-II typing with 1108 matched controls. The strongest associations were found with DRB1*04:04 (OR 2.3, 95% CI 1.4–4.0 P=0.002) and HLA-B*37 conferred the highest OR among Class I alleles (3.3, 95% CI 1.6–6.9, P= 0.0016). Comparison with risk alleles in systemic sclerosis determined using the same methods and control population revealed one common allele (DRB*04:04). Conclusion Results of the present study demonstrate specific HLA Class I and II alleles are associated with morphea and likely generalized and linear subtypes. The associated morphea alleles are different than in scleroderma, implicating morphea is also immunogenetically distinct. Risk alleles in morphea are also associated with conditions such as rheumatoid arthritis (RA) and other autoimmune conditions. Population based studies indicate patients with RA have increased risk of morphea, implicating a common susceptibility allele. PMID:25223600

Technology assessment and citizen action

NASA Technical Reports Server (NTRS)

Mottur, E. R.

1975-01-01

Citizen participation in the nation's total social, political, economic decisionmaking processes was studied. Impediments are discussed which prevent citizens from taking effective assessment action; these include finance, organization and motivation, and information. The proposal for establishing citizens assessment associations is considered along with implications of citizen assessment action.

Chicken bile Matrix metalloproteinase; its characterization and significance

USDA-ARS?s Scientific Manuscript database

Previous studies from our lab had shown that the avian bile was rich in matrix metalloproteinase (MMP), enzymes implicated in the degradation of extracellular matrices (ECM) such as collagens and proteoglycans. We hypothesized that bile MMP may be evolutionarily associated with the digestion of ECM ...

Pulmonary and Hematological Effects in Rats Following a Single Inhalation Exposure to Ce02 Nanoparticles

EPA Science Inventory

Engineered nanomaterials have unknown environmental and health implications due to their novel properties and/or by-products associated with their applications. Combustion studies have shown nanoCe-enabled fuel additives alter the physicochemical properties of diesel emissions (D...

INTERPRETATION OF BENZENE URINARY BIOMARKER DATA FOR RISK ASSESSMENT: A CASE STUDY

EPA Science Inventory

Human biomonitoring is an effective tool in assessing exposure to hundreds of chemicals. Too often, however, biomarkers such as parent or metabolite concentrations in blood or urine are reported without information on doses associated with the biomarkers and implications for hum...

Concomitant endometriosis in malignant and borderline ovarian tumours.

PubMed

Oral, Engin; Aydin, Ovgu; Kumbak, Banu Aygun; İlvan, Sennur; Yilmaz, Handan; Tustas, Esra; Bese, Tugan; Demirkiran, Fuat; Arvas, Macit

2018-06-08

The aim of the study was to reveal the prevalence of concomitant endometriosis in malignant and borderline ovarian tumours. A retrospective analysis was performed of 530 patients with malignant ovarian tumours and 131 with borderline ovarian tumours, who underwent surgery in our hospital between 1995 and 2011. Forty-eight (7.3%) of 661 patients with malignant and borderline ovarian tumours were associated with endometriosis. Of the 48 endometriosis cases, 73% of those were atypical. Infertility was noted in 38% of patients with endometriosis-associated ovarian tumours. The most frequently endometriosis-associated subtypes were endometrioid (33%) and clear cell (18%) histologies. Of endometriosis-associated endometrioid and clear cell ovarian tumours, 70% were early stage and 60% were premenopausal. The prevalence of concomitant endometriosis in borderline tumours (12%) was found to be significantly higher than that found in the malignant ones (6%; p = .02). Of 32 endometriosis-associated malignant ovarian tumours, 69% were FIGO stages I and II. In conclusion, ovarian endometriosis is seen with both malignant and borderline ovarian tumours, the association being significant with borderline tumours. Fortunately, the endometriosis-associated malignant ovarian tumours are mostly early stage. Impact statement What is already known on this subject? Epidemiologic data suggest that endometriosis has malignant potential. However, a subgroup of women with endometriosis at a high risk for ovarian cancer is yet to be clarified. Currently, endometriosis and ovarian cancer association does not seem to have a clinical implication. What do the results of this study add? The findings of this study revealed that nearly 75% of endometriosis-associated ovarian tumours were of atypical endometriosis. Half of endometriosis-associated ovarian tumour cases were of endometrioid/clear cell histology and 70% were early-stage. Endometriosis was significantly associated with borderline ovarian tumours and the endometriosis-associated malignant ovarian tumours were mostly early stage. What are the implications of these findings for clinical practice and/or further research? Additional studies need to be conducted to develop screening approaches for malignant transformation or an association in women with endometriosis. Till that time, a change of current clinical practices cannot be justified. However, counselling and treating women with endometriosis who are at high risk for cancer coexistence or conversion is encouraged.

The role of genetics and antibodies in sepsis

PubMed Central

Giamarellos-Bourboulis, Evangelos J.

2016-01-01

During the course of sepsis when immunosuppression predominates, the concentrations of circulating immunoglobulins (IGs) are decreased and this is associated with adverse outcomes. The production of IGs as response to invasive bacterial pathogens takes place through a complex pathway starting from the recognition of the antigen (Ag) by innate immune cells that process and present Ags to T cells. The orchestration of T-helper (Th) lymphocyte responses directs specific B cells and ends with the production of IGs by plasma cells. All molecules implicated in this process are encoded by genes bearing single nucleotide polymorphisms (SNPs). Meta-analysis of case-control studies have shown that the carriage of minor frequency SNPs of CD14, TLR2 and TNF is associated with increased sepsis risk. The ambiguity of results of clinical trials studying the clinical efficacy of exogenous IG administration in sepsis suggests that efficacy of treatment should be considered after adjustment for SNPs of all implicated genes in the pathway of IG production. PMID:27713886

The role of genetics and antibodies in sepsis.

PubMed

Giamarellos-Bourboulis, Evangelos J; Opal, Steven M

2016-09-01

During the course of sepsis when immunosuppression predominates, the concentrations of circulating immunoglobulins (IGs) are decreased and this is associated with adverse outcomes. The production of IGs as response to invasive bacterial pathogens takes place through a complex pathway starting from the recognition of the antigen (Ag) by innate immune cells that process and present Ags to T cells. The orchestration of T-helper (Th) lymphocyte responses directs specific B cells and ends with the production of IGs by plasma cells. All molecules implicated in this process are encoded by genes bearing single nucleotide polymorphisms (SNPs). Meta-analysis of case-control studies have shown that the carriage of minor frequency SNPs of CD14 , TLR2 and TNF is associated with increased sepsis risk. The ambiguity of results of clinical trials studying the clinical efficacy of exogenous IG administration in sepsis suggests that efficacy of treatment should be considered after adjustment for SNPs of all implicated genes in the pathway of IG production.

Utilization and Accessibility of Healthcare on Pemba Island, Tanzania: Implications for Health Outcomes and Disease Surveillance for Typhoid Fever

PubMed Central

Kaljee, Linda M.; Pach, Alfred; Thriemer, Kamala; Ley, Benedikt; Ali, Said M.; Jiddawi, Mohamed; Puri, Mahesh; von Seidlein, Lorenz; Deen, Jacqueline; Ochiai, Leon; Wierzba, Thomas; Clemens, John

2013-01-01

Salmonella enterica serotype Typhi (S. Typhi) was estimated to cause over 200,000 deaths and more than 21 million illnesses worldwide, including over 400,000 illnesses in Africa. The current study was conducted in four villages on Pemba Island, Zanzibar, in 2010. We present data on policy makers', health administrators', and village residents' and leaders' perceptions of typhoid fever, and hypothetical and actual health care use among village residents for typhoid fever. Qualitative data provided descriptions of home-based treatment practices and use of western pharmaceuticals, and actual healthcare use for culture-confirmed typhoid fever. Survey data indicate health facility use was associated with gender, education, residency, and perceptions of severity for symptoms associated with typhoid fever. Data have implications for education of policy makers and health administrators, design and implementation of surveillance studies, and community-based interventions to prevent disease outbreaks, decrease risks of complications, and provide information about disease recognition, diagnosis, and treatment. PMID:23208887

The brain’s conversation with itself: neural substrates of dialogic inner speech

PubMed Central

Weis, Susanne; McCarthy-Jones, Simon; Moseley, Peter; Smailes, David; Fernyhough, Charles

2016-01-01

Inner speech has been implicated in important aspects of normal and atypical cognition, including the development of auditory hallucinations. Studies to date have focused on covert speech elicited by simple word or sentence repetition, while ignoring richer and arguably more psychologically significant varieties of inner speech. This study compared neural activation for inner speech involving conversations (‘dialogic inner speech’) with single-speaker scenarios (‘monologic inner speech’). Inner speech-related activation differences were then compared with activations relating to Theory-of-Mind (ToM) reasoning and visual perspective-taking in a conjunction design. Generation of dialogic (compared with monologic) scenarios was associated with a widespread bilateral network including left and right superior temporal gyri, precuneus, posterior cingulate and left inferior and medial frontal gyri. Activation associated with dialogic scenarios and ToM reasoning overlapped in areas of right posterior temporal cortex previously linked to mental state representation. Implications for understanding verbal cognition in typical and atypical populations are discussed. PMID:26197805

Pleasurable Emotional Response to Music: A Case of Neurodegenerative Generalized Auditory Agnosia

PubMed Central

Matthews, Brandy R.; Chang, Chiung-Chih; De May, Mary; Engstrom, John; Miller, Bruce L.

2009-01-01

Recent functional neuroimaging studies implicate the network of mesolimbic structures known to be active in reward processing as the neural substrate of pleasure associated with listening to music. Psychoacoustic and lesion studies suggest that there is a widely distributed cortical network involved in processing discreet musical variables. Here we present the case of a young man with auditory agnosia as the consequence of cortical neurodegeneration who continues to experience pleasure when exposed to music. In a series of musical tasks the subject was unable to accurately identify any of the perceptual components of music beyond simple pitch discrimination, including musical variables know to impact the perception of affect. The subject subsequently misidentified the musical character of personally familiar tunes presented experimentally, but continued to report the activity of “listening” to specific musical genres was an emotionally rewarding experience. The implications of this case for the evolving understanding of music perception, music misperception, music memory, and music-associated emotion are discussed. PMID:19253088

Pleasurable emotional response to music: a case of neurodegenerative generalized auditory agnosia.

PubMed

Matthews, Brandy R; Chang, Chiung-Chih; De May, Mary; Engstrom, John; Miller, Bruce L

2009-06-01

Recent functional neuroimaging studies implicate the network of mesolimbic structures known to be active in reward processing as the neural substrate of pleasure associated with listening to music. Psychoacoustic and lesion studies suggest that there is a widely distributed cortical network involved in processing discreet musical variables. Here we present the case of a young man with auditory agnosia as the consequence of cortical neurodegeneration who continues to experience pleasure when exposed to music. In a series of musical tasks, the subject was unable to accurately identify any of the perceptual components of music beyond simple pitch discrimination, including musical variables known to impact the perception of affect. The subject subsequently misidentified the musical character of personally familiar tunes presented experimentally, but continued to report that the activity of 'listening' to specific musical genres was an emotionally rewarding experience. The implications of this case for the evolving understanding of music perception, music misperception, music memory, and music-associated emotion are discussed.

Using in vivo probabilistic tractography to reveal two segregated dorsal ‘language-cognitive’ pathways in the human brain☆

PubMed Central

Cloutman, Lauren L.; Binney, Richard J.; Morris, David M.; Parker, Geoffrey J.M.; Lambon Ralph, Matthew A.

2013-01-01

Primate studies have recently identified the dorsal stream as constituting multiple dissociable pathways associated with a range of specialized cognitive functions. To elucidate the nature and number of dorsal pathways in the human brain, the current study utilized in vivo probabilistic tractography to map the structural connectivity associated with subdivisions of the left supramarginal gyrus (SMG). The left SMG is a prominent region within the dorsal stream, which has recently been parcellated into five structurally-distinct regions which possess a dorsal–ventral (and rostral-caudal) organisation, postulated to reflect areas of functional specialisation. The connectivity patterns reveal a dissociation of the arcuate fasciculus into at least two segregated pathways connecting frontal-parietal-temporal regions. Specifically, the connectivity of the inferior SMG, implicated as an acoustic-motor speech interface, is carried by an inner/ventro-dorsal arc of fibres, whilst the pathways of the posterior superior SMG, implicated in object use and cognitive control, forms a parallel outer/dorso-dorsal crescent. PMID:23937853

Visits on 'lamb-viewing days' at a sheep farm open to the public was a risk factor for Q fever in 2009.

PubMed

Whelan, J; Schimmer, B; de Bruin, A; van Beest Holle, M Robert-du Ry; van der Hoek, W; ter Schegget, R

2012-05-01

Between February and May 2009, 347 laboratory-confirmed cases of acute Q fever were reported in a southern municipal health service region in The Netherlands. Commercial dairy-goat farms were implicated and control measures were initially targeted there. A preliminary investigation also implicated a non-dairy sheep farm, open to the public on 'lamb-viewing days'. This study tested the association between visiting the non-dairy sheep farm and developing Q fever in residents of the region between February and May 2009. A case-control study of 146 cases and 431 address-matched controls was conducted. Multivariable logistic regression analysis confirmed the association between visiting to the sheep farm and Q fever disease (matched odds ratio 43, 95% confidence interval 9-200). Other risk factors were being a smoker, having a past medical history and being aged >40 years. Vaccination of sheep and goats on farms open to the public should help to reduce the number of future human cases.

Comparative Study of the Pathological Effects of Western Equine Encephalomyelitis Virus in Four Strains of Culex tarsalis Coquillett (Diptera: Culicidae)

PubMed Central

Neira, Marco V.; Mahmood, Farida; Reisen, William K.; James, Calvin B. L.; Romoser, William S.

2014-01-01

Early reports suggested that mosquito cells infected with arboviruses remain viable and undamaged. However, more recent experimental evidence suggests that arboviral infection of mosquito tissues might indeed result in pathological changes, with potential implications for vector survival and virus transmission. Here, we compare the pathological effects of western equine encephalomyelitis virus (WEEV) infection in four strains of Culex tarsalis previously reported to differ in their competence as WEEV vectors. Pathological effects were observed in cells of the midgut epithelium, salivary glands, and eggs. Cell rounding and sloughing of midgut epithelial cells was associated with those strains reported to be the least susceptible to WEEV infection, whereas midgut necrosis and vacuolation upon infection were associated with strains showing higher susceptibility. Although pathological effects were sporadically observed in infected salivary glands, further studies are required to evaluate their impact on vector competence. Additionally, the potential implications of observed C. tarsalis egg infection with WEEV are discussed. PMID:25346928

EXPOSURE TO INTERMITTENT AIR POLLUTION AND CHANGES IN SEMEN QUALITY: EVIDENCE FOR AN ASSOCIATION AND IMPLICATIONS FOR REPRODUCTIVE RISK ASSESSMENT

EPA Science Inventory

Exposure to Intermittent Air Pollution and Changes in Semen Quality:
Evidence for an Association and Implications for Reproductive Risk Assessment.

S. D. Perreault1, S.G. Selevan2, J. Rubes3, D. Zudova3, and D.P. Evenson4
1US EPA, ORD/NHEERL, Research Triangle Pa...

The academic rewards of socially-oriented happiness: Interdependent happiness promotes academic engagement.

PubMed

Datu, Jesus Alfonso D; King, Ronnel B; Valdez, Jana Patricia M

2017-04-01

Interdependent happiness has been found to be positively associated with optimal psychological outcomes in collectivist cultures. However, the association between interdependent happiness and key academic outcomes has remained unexplored. The current study examined the association of interdependent happiness with key academic outcomes such as autonomous motivation, engagement, and achievement using both cross-sectional (Study 1) and longitudinal (Study 2) approaches. Study 1 revealed that interdependent happiness positively predicted academic engagement (partly) via autonomous motivation. Study 2 showed that prior interdependent happiness positively predicted subsequent academic engagement even after controlling for autoregressor effects. In addition, reciprocal associations among the key variables were found. Taken together, results of the two studies suggest that interdependent happiness plays an adaptive role in the academic context especially in a collectivist cultural setting. Theoretical and practical implications are discussed. Copyright © 2016 Society for the Study of School Psychology. Published by Elsevier Ltd. All rights reserved.

Teacher interaction in psychosocial learning environments: cultural differences and their implications in science instruction

NASA Astrophysics Data System (ADS)

Khine, Myint Swe; Fisher, Darrell L.

2004-01-01

The purpose of this study was to examine interpersonal behaviour in psychosocial learning environments and to determine the associations between science students' perceptions of their interactions with their teachers, the cultural background of teachers and their attitudinal outcomes. A sample of 1188 students completed the Questionnaire on Teacher Interaction instrument. The responses to two subscales of Test of Science-related Attitudes were used as attitudinal measures. Significant associations between students' perceptions of teacher interpersonal behaviour and the cultural background of teachers were detected. The results showed that students perceived a more favourable interpersonal relationship with Western teachers in the secondary science classrooms. The students in the classes of Western teachers indicated that they enjoyed science lessons more than those in the classes of Asian teachers. Some implications for science instruction in this context are discussed.

Atypical femur fractures: a review of the evidence and its implication to clinical practice

PubMed Central

Girgis, Christian M.

2011-01-01

Whilst bisphosphonates are an established modality in the treatment of osteoporosis, there have been increasing concerns regarding the risk of an unusual form of femur fracture amongst patients receiving bisphosphonates for prolonged periods. These fractures, referred to as ‘atypical’, have been characterized by a number of clinical and radiographic features that distinguish them from ‘typical’ osteoporotic fractures. The evidence base is currently split between a large number of case series demonstrating an association between the occurrence of atypical fractures and bisphosphonate use and several population-based studies that do not confirm such an association. Hence, a degree of uncertainty surrounds this important issue. In this review, we examine the emerging evidence on atypical femur fractures, assess hypotheses on their biomechanical evolution and discuss the wider clinical implications of this phenomenon. PMID:22870488

Comprehensive gene- and pathway-based analysis of depressive symptoms in older adults.

PubMed

Nho, Kwangsik; Ramanan, Vijay K; Horgusluoglu, Emrin; Kim, Sungeun; Inlow, Mark H; Risacher, Shannon L; McDonald, Brenna C; Farlow, Martin R; Foroud, Tatiana M; Gao, Sujuan; Callahan, Christopher M; Hendrie, Hugh C; Niculescu, Alexander B; Saykin, Andrew J

2015-01-01

Depressive symptoms are common in older adults and are particularly prevalent in those with or at elevated risk for dementia. Although the heritability of depression is estimated to be substantial, single nucleotide polymorphism-based genome-wide association studies of depressive symptoms have had limited success. In this study, we performed genome-wide gene- and pathway-based analyses of depressive symptom burden. Study participants included non-Hispanic Caucasian subjects (n = 6,884) from three independent cohorts, the Alzheimer's Disease Neuroimaging Initiative (ADNI), the Health and Retirement Study (HRS), and the Indiana Memory and Aging Study (IMAS). Gene-based meta-analysis identified genome-wide significant associations (ANGPT4 and FAM110A, q-value = 0.026; GRM7-AS3 and LRFN5, q-value = 0.042). Pathway analysis revealed enrichment of association in 105 pathways, including multiple pathways related to ERK/MAPK signaling, GSK3 signaling in bipolar disorder, cell development, and immune activation and inflammation. GRM7, ANGPT4, and LRFN5 have been previously implicated in psychiatric disorders, including the GRM7 region displaying association with major depressive disorder. The ERK/MAPK signaling pathway is a known target of antidepressant drugs and has important roles in neuronal plasticity, and GSK3 signaling has been previously implicated in Alzheimer's disease and as a promising therapeutic target for depression. Our results warrant further investigation in independent and larger cohorts and add to the growing understanding of the genetics and pathobiology of depressive symptoms in aging and neurodegenerative disorders. In particular, the genes and pathways demonstrating association with depressive symptoms may be potential therapeutic targets for these symptoms in older adults.

Counseling a Student Presenting Borderline Personality Disorder in the Small College Context: Case Study and Implications

ERIC Educational Resources Information Center

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…

Low-Wind and Other Microclimatic Factors in Near-road Black Carbon Variability: A Case Study and Assessment Implications

EPA Science Inventory

Airborne black carbon from urban traffic is a climate forcing agent and has been associated with health risk to near-road populations. In this paper, we describe a case study of black carbon concentration and compositional variability at and near a traffic-laden multi-lane highw...

Stroke-Related Knowledge, Lifestyle Behaviours and Health Beliefs in Singaporean Chinese: Implications for Health Education

ERIC Educational Resources Information Center

Wong, Wai Pong; Yeung, Meredith; Loh, Susan; Lee, Mina; Ghazali, F.; Chan, C. J.; Feng, S.; Liew, Y. V.; Seah, P. F.; Wee, J.; Wang, J.; Huang, X.; Dean, Elizabeth

2013-01-01

Objective: The objective of the present study was to describe stroke-related knowledge (risk factors, warning signs and emergency response), lifestyle behaviours and health beliefs among Singaporean Chinese, and to identify any factors associated with such knowledge, behaviours and beliefs. Design: This was a cross-sectional study design employing…

Correlates of Ecstasy Use among Students Surveyed through the 1997 College Alcohol Study.

ERIC Educational Resources Information Center

Yacoubian, George S., Jr.

2003-01-01

The drug-using behaviors of 14,520 college students were examined with data collected through the 1997 College Alcohol Study. Prevalence estimates of ecstasy use were generated and associations between ecstasy use, demographic characteristics, and alcohol and other drug use were explored. Implications for these findings are discussed. (Contains 24…

Protective Factors against Serious Violent Behavior in Adolescence: A Prospective Study of Aggressive Children.

ERIC Educational Resources Information Center

Herrenkohl, Todd I.; Hill, Karl G.; Chung, Ick-Joong; Guo, Jie; Abbott, Robert D.; Hawkins, J. David

2003-01-01

Examines factors in adolescence that affect the probability of violent behavior at age 18 among youths who received high teacher ratings of aggression at age 10. Study found a lower probability of violence was associated with religious services attendance, good family management by parents, and bonding to school. Implications of these findings for…

Two case studies of highly insoluble plutonium inhalation with implications for bioassay.

PubMed

Carbaugh, E H; La Bone, T R

2003-01-01

Two well characterised Pu inhalation cases show some remarkable similarities between substantially different types of Pu oxide. The circumstances of exposure, therapy, bioassay data, chemical solubility studies and dosimetry associated with these cases suggest that highly insoluble Pu may be more common than previously thought, and can pose significant challenges to bioassay programmes.

Two Case Studies of Highly Insoluble Plutonium Inhalation with Implications for Bioassay

DOE Office of Scientific and Technical Information (OSTI.GOV)

Carbaugh, Eugene H.; La Bone, Thomas R.

2003-01-01

Two well-characterized Pu inhalation cases show some remarkable similarities between substantially different types of Pu oxide. The circumstances of exposure, therapy, bioassay data, chemical solubility studies, and dosimetry associated with these cases suggests taht highly insoluble Pu may be more common than previously thought, and can pose significant challenges to bioassay programs.

Executive Control Goes to School: Implications of Preschool Executive Performance for Observed Elementary Classroom Learning Engagement

ERIC Educational Resources Information Center

Nelson, Timothy D.; Nelson, Jennifer Mize; James, Tiffany D.; Clark, Caron A. C.; Kidwell, Katherine M.; Espy, Kimberly Andrews

2017-01-01

The transition to elementary school is accompanied by increasing demands for children to regulate their attention and behavior within the classroom setting. Executive control (EC) may be critical for meeting these demands; however, few studies have rigorously examined the association between EC and observed classroom behavior. This study examined…

Social Conformity and Autism Spectrum Disorder: A Child-Friendly Take on a Classic Study

ERIC Educational Resources Information Center

Yafai, Abdul-Fattah; Verrier, Diarmuid; Reidy, Lisa

2014-01-01

Perhaps surprisingly, given the importance of conformity as a theoretical construct in social psychology and the profound implications autism has for social function, little research has been done on whether autism is associated with the propensity to conform to a social majority. This study is a modern, child-friendly implementation of the…

Gender and Batterer Intervention: Implications of a Program Evaluation for Policy and Treatment

ERIC Educational Resources Information Center

Hamel, John; Ferreira, Regardt J.; Buttell, Fred

2017-01-01

Objective: The purpose of the present study was to investigate the impact of gender and other variables commonly associated with intimate partner abuse perpetration on program completion and pretreatment abusiveness profiles among a sample of men and women ordered into a 52-week batterer intervention program (BIP). Method: The study employed a…

Exome Sequencing Identifies Three Novel Candidate Genes Implicated in Intellectual Disability

PubMed Central

Azam, Maleeha; Ayub, Humaira; Vissers, Lisenka E. L. M.; Gilissen, Christian; Ali, Syeda Hafiza Benish; Riaz, Moeen; Veltman, Joris A.; Pfundt, Rolph; van Bokhoven, Hans; Qamar, Raheel

2014-01-01

Intellectual disability (ID) is a major health problem mostly with an unknown etiology. Recently exome sequencing of individuals with ID identified novel genes implicated in the disease. Therefore the purpose of the present study was to identify the genetic cause of ID in one syndromic and two non-syndromic Pakistani families. Whole exome of three ID probands was sequenced. Missense variations in two plausible novel genes implicated in autosomal recessive ID were identified: lysine (K)-specific methyltransferase 2B (KMT2B), zinc finger protein 589 (ZNF589), as well as hedgehog acyltransferase (HHAT) with a de novo mutation with autosomal dominant mode of inheritance. The KMT2B recessive variant is the first report of recessive Kleefstra syndrome-like phenotype. Identification of plausible causative mutations for two recessive and a dominant type of ID, in genes not previously implicated in disease, underscores the large genetic heterogeneity of ID. These results also support the viewpoint that large number of ID genes converge on limited number of common networks i.e. ZNF589 belongs to KRAB-domain zinc-finger proteins previously implicated in ID, HHAT is predicted to affect sonic hedgehog, which is involved in several disorders with ID, KMT2B associated with syndromic ID fits the epigenetic module underlying the Kleefstra syndromic spectrum. The association of these novel genes in three different Pakistani ID families highlights the importance of screening these genes in more families with similar phenotypes from different populations to confirm the involvement of these genes in pathogenesis of ID. PMID:25405613

Aspects of depression associated with borderline personality disorder.

PubMed

Rogers, J H; Widiger, T A; Krupp, A

1995-02-01

Shared symptoms between borderline personality disorder and depression have resulted in inherent difficulties in evaluating the relationship between these disorders. Some theorists have argued that depression in patients with borderline personality disorder is qualitatively distinct from depression in nonborderline patients. The purpose of this study was to empirically identify aspects of depression most associated with borderline personality disorder. Through interview and self-report measures, the authors studied depression in 50 inpatients, 21 of whom had borderline personality disorder. The aspects of depression most associated with borderline personality disorder were self-condemnation, emptiness, abandonment fears, self-destructiveness, and hopelessness; boredom and somatic complaints exhibited no association. Depression associated with borderline pathology appears to be in some respects unique, as well as distinct from nonborderline depression. The study's implications delineate the importance of considering the phenomenological aspects of depression in borderline personality disorder.

Parental Education and Family Dissolution: A Cross‐National and Cohort Comparison

PubMed Central

Härkönen, Juho

2018-01-01

This is the first study to systematically analyze whether the association between parental education and family dissolution varies cross‐nationally and over time. The authors use meta‐analytic tools to study cross‐national variation between 17 countries with data from the Generations and Gender Study and Harmonized Histories. The association shows considerable cross‐national variation, but is positive in most countries. The association between parental education and family dissolution has become less positive or even negative in six countries. The findings show that the association between parental education and family dissolution is generally positive or nil, even if the association between own education and family dissolution is in many countries increasingly negative. The authors find suggestive evidence that the association is related to the crude divorce rate, but not to the generosity of the welfare state in these countries. The implications of these findings for understanding the stratification in family dissolution are discussed. PMID:29657335

Internalized stigma and HIV status disclosure among HIV-positive black men who have sex with men.

PubMed

Overstreet, Nicole M; Earnshaw, Valerie A; Kalichman, Seth C; Quinn, Diane M

2013-01-01

Black men who have sex with men (BMSM) are severely affected by the HIV epidemic, yet research on the relationship between HIV stigma and status disclosure is relatively limited among this population. Within this epidemic, internalized HIV stigma, the extent to which people living with HIV/AIDS endorse the negative beliefs associated with HIV as true of themselves, can negatively shape interpersonal outcomes and have important implications for psychological and physical health. In a sample of HIV-positive BMSM (N=156), the current study examined the effect of internalized stigma on HIV status disclosure to sexual partners, which can inform sexual decision-making in serodiscordant couples, and HIV status disclosure to family members, which can be beneficial in minimizing the psychological distress associated with HIV. Results revealed that greater internalized stigma was associated with less HIV status disclosure to participants' last sexual partner and to family members. Findings from this study provide evidence that internalized negative beliefs about one's HIV status are linked to adverse interpersonal consequences. Implications of these findings are discussed with regard to prevention and intervention efforts to reduce HIV stigmatization.

Long-Term Implications of Welfare Reform for the Development of Adolescents and Young Adults

PubMed Central

Chase-Lansdale, P. Lindsay; Cherlin, Andrew J.; Guttmannova, Katarina; Fomby, Paula; Ribar, David C.; Coley, Rebekah Levine

2011-01-01

We draw upon the 3-wave longitudinal dataset called Welfare Children and Families: A Three-City Study to examine the long-term implications for adolescents and young adults (N=783) of mothers’ welfare receipt and labor force participation from 1999 to 2005. In general, changes in mothers’ work and welfare patterns were not associated with deterioration or improvement in youth development (ages 16 to 20 years at wave 3). The few significant associations suggested that youth whose mothers increased employment (net of welfare participation) were more likely to show declines in serious behavior problems and delinquency compared to youth whose mothers were unemployed or employed part-time during the study period. Welfare roll exits (controlling for employment experiences) were unrelated to adolescent and young adult outcomes. Mothers’ employment transitions were linked to improvements in household income and mothers’ self esteem in addition to reductions in financial strain and their own illegal activities. However, these associations did not explain the relation between maternal employment and youths’ improved behavior. These results do not support the predictions of either the supporters or the opponents of welfare reform, an outcome we discuss. PMID:21966077

Obesity Paradox in Lung Cancer Prognosis: Evolving Biological Insights and Clinical Implications.

PubMed

Zhang, Xueli; Liu, Yamin; Shao, Hua; Zheng, Xiao

2017-10-01

The survival rate of lung cancer remains low despite the progress of surgery and chemotherapy. With the increasing comorbidity of obesity in patients with lung cancer, new challenges are emerging in the management of this patient population. A key issue of interest is the prognostic effect of obesity on surgical and chemotherapeutic outcomes in patients with lung cancer, which is fueled by the growing observation of survival benefits in overweight or obese patients. This unexpected inverse relationship between obesity and lung cancer mortality, called the obesity paradox, remains poorly understood. The evolving insights into the heterogeneity of obesity phenotypes and associated biological connections with lung cancer progression in recent years may help explain some of the seemingly paradoxical relationship, and well-designed clinical studies looking at the causal role of obesity-associated molecules are expected. Here, we examine potential biological mechanisms behind the protective effects of obesity in lung cancer. We highlight the need to clarify the clinical implications of this relationship toward an updated intervention strategy in the clinical care of patients with lung cancer and obesity. Copyright © 2017 International Association for the Study of Lung Cancer. Published by Elsevier Inc. All rights reserved.

Turn Off the Music! Music Impairs Visual Associative Memory Performance in Older Adults

PubMed Central

Reaves, Sarah; Graham, Brittany; Grahn, Jessica; Rabannifard, Parissa; Duarte, Audrey

2016-01-01

Purpose of the Study: Whether we are explicitly listening to it or not, music is prevalent in our environment. Surprisingly, little is known about the effect of environmental music on concurrent cognitive functioning and whether young and older adults are differentially affected by music. Here, we investigated the impact of background music on a concurrent paired associate learning task in healthy young and older adults. Design and Methods: Young and older adults listened to music or to silence while simultaneously studying face–name pairs. Participants’ memory for the pairs was then tested while listening to either the same or different music. Participants also made subjective ratings about how distracting they found each song to be. Results: Despite the fact that all participants rated music as more distracting to their performance than silence, only older adults’ associative memory performance was impaired by music. These results are most consistent with the theory that older adults’ failure to inhibit processing of distracting task-irrelevant information, in this case background music, contributes to their memory impairments. Implications: These data have important practical implications for older adults’ ability to perform cognitively demanding tasks even in what many consider to be an unobtrusive environment. PMID:26035876

Examining Reciprocal Influences Among Family Climate, School Attachment, and Academic Self-Regulation: Implications for School Success

PubMed Central

Xia, Mengya; Fosco, Gregory M.; Feinberg, Mark E.

2015-01-01

Guided by family systems and ecological theories, this study examined the multi-contextual implications of family, school, and individual domains for adolescents' school success. The first goal of this study was to examine reciprocal influences among family climate, school attachment, and academic self-regulation (ASR) during the middle school years. The second goal was to test the relative impact of each of these domains on adolescents' school adjustment and academic achievement after the transition to high school. We applied a cross-lag structural equation modeling approach to longitudinal data from 979 6th grade students and their families, followed over five measurement occasions, from 6th through 9th grade. Controlling for family income, parent education, and adolescent gender, the results revealed reciprocal relationships between the family climate and school attachment over time; both of these factors were related to increases in ASR over time. In turn, ASR was a robust predictor of academic success, with unique associations with school adjustment and academic achievement. Family climate and school adjustment had modest to marginal associations with school adjustment, and no association with academic achievement. Applications of these findings for family-school interventions are discussed. PMID:26376426

Exploration of large, rare copy number variants associated with psychiatric and neurodevelopmental disorders in individuals with anorexia nervosa.

PubMed

Yilmaz, Zeynep; Szatkiewicz, Jin P; Crowley, James J; Ancalade, NaEshia; Brandys, Marek K; van Elburg, Annemarie; de Kovel, Carolien G F; Adan, Roger A H; Hinney, Anke; Hebebrand, Johannes; Gratacos, Monica; Fernandez-Aranda, Fernando; Escaramis, Georgia; Gonzalez, Juan R; Estivill, Xavier; Zeggini, Eleftheria; Sullivan, Patrick F; Bulik, Cynthia M

2017-08-01

Anorexia nervosa (AN) is a serious and heritable psychiatric disorder. To date, studies of copy number variants (CNVs) have been limited and inconclusive because of small sample sizes. We conducted a case-only genome-wide CNV survey in 1983 female AN cases included in the Genetic Consortium for Anorexia Nervosa. Following stringent quality control procedures, we investigated whether pathogenic CNVs in regions previously implicated in psychiatric and neurodevelopmental disorders were present in AN cases. We observed two instances of the well-established pathogenic CNVs in AN cases. In addition, one case had a deletion in the 13q12 region, overlapping with a deletion reported previously in two AN cases. As a secondary aim, we also examined our sample for CNVs over 1 Mbp in size. Out of the 40 instances of such large CNVs that were not implicated previously for AN or neuropsychiatric phenotypes, two of them contained genes with previous neuropsychiatric associations, and only five of them had no associated reports in public CNV databases. Although ours is the largest study of its kind in AN, larger datasets are needed to comprehensively assess the role of CNVs in the etiology of AN.

An Introduction to a Head and Neck Cancer-Specific Frailty Index and Its Clinical Implications in Elderly Patients: A Prospective Observational Study Focusing on Respiratory and Swallowing Functions

PubMed Central

Kwon, Minsu; Kim, Shin-Ae; Lee, Sang-Wook; Kim, Sung-Bae; Choi, Seung-Ho; Nam, Soon Yuhl; Kim, Sang Yoon

2016-01-01

Introduction. Frailty refers to a decreased physiologic reserve in geriatric patients and its importance in terms of treatment planning and outcome prediction has been emphasized in oncologic practices for older patients with cancer. We investigated the clinical implications of a head and neck cancer (HNC)-specific frailty index suggested by prospective clinical and functional evaluations of HNC patients. Materials and Methods. We analyzed data on 165 elderly patients with HNC who were prospectively enrolled in our hospital from 2010 to 2013. Pretreatment functional evaluations were performed according to all comprehensive geriatric assessment (CGA) domains. We additionally evaluated the patients’ respiratory and swallowing functions using pulmonary function tests, voice handicap index (VHI), MD Anderson Dysphagia Inventory (MDADI), and other associated tests. Factors affecting the 2-year morbidity and mortality were also analyzed. Results. Respiratory and swallowing problems were major causes of 2-year morbidity. Pretreatment performance status, VHI ≥8, MDADI <70, dental problems, and chemotherapy were significantly associated with early morbidity and mortality (all p < .05). CGA-assessed frailty was found in 72 patients (43.6%) and was significantly associated with 2-year mortality (p = .027) but not with morbidity (p = .716). The high-risk group according to our new HNC-specific frailty index that included functional evaluations of respiration and swallowing showed significantly higher 2-year morbidity (p = .043) and mortality (p < .001). Conclusion. Pretreatment functional disabilities related to respiration and swallowing were significantly associated with early morbidity and mortality. The suggested index would be more useful for assessing frailty in elderly HNC patients. Implications for Practice: This study is the first report in terms of suggesting a new frailty index focusing on respiratory and swallowing functions in elderly patients with head and neck cancer. This study shows that functional disabilities associated with respiration and swallowing significantly affected early morbidity and mortality in these elderly patients. The head and neck cancer-specific frailty index described in this report, which includes functional evaluations of respiration and swallowing, significantly predicted both early morbidity and mortality. PMID:27368883

Influence of employees' attachment styles on their life satisfaction as mediated by job satisfaction and burnout.

PubMed

Reizer, Abira

2015-01-01

The aim of this study was to obtain better insight into the associations between attachment styles and employees' life satisfaction. This was achieved by examining the mediating roles of burnout and job satisfaction. Three hundred and thirty-nine employees, from a convenience community sample, participated in the current study. Results of the mediation model indicated that the associations between avoidance and life satisfaction were mediated by burnout and job satisfaction. However, the associations between attachment anxiety and life satisfaction were mediated by burnout but not by job satisfaction. Theoretical and practical implications for organizations and for attachment theory at work are discussed.

The Association of Parental Depressive Symptoms with Child Internalizing Problems: The Role of Parental Guilt Induction

PubMed Central

Rakow, Aaron; Forehand, Rex; Haker, Kelly; McKee, Laura G.; Champion, Jennifer E.; Potts, Jennifer; Hardcastle, Emily; Roberts, Lorinda; Compas, Bruce E.

2010-01-01

This study builds on prior research by Rakow et al. (2009) by examining the role of parental guilt induction in the association between parent depressive symptoms and child internalizing problems in a sample of parents with a history of major depressive disorder. One hundred and two families with 129 children (66 males; Mage = 11.42 years) were studied. The association of parental depressive symptoms with child internalizing problems was accounted for by parental guilt induction, which was assessed by behavioral observations and child report. Implications of the findings for parenting programs are discussed and future research directions are considered. PMID:21355654

The mediating role of work-related musculoskeletal disorders on the link between psychosocial factors and absenteeism among administrative workers.

PubMed

Abdullah, Mohd Zulkifli; Othman, Abdul Kadir; Ahmad, Mohamad Fahimi; Justine, Maria

2015-01-01

This study aimed to investigate the association between psychosocial factors (i.e., job demand, decision latitude, social support, physical environment, and personal risk factors), work-related musculoskeletal disorders (WRMDs), and productivity as measured by workers' perceived absenteeism. Data were collected from the selected administrative workers (administrative assistant) and analyzed using cross tabulation. The results indicate that all psychological factors are not significantly associated with WRMDs, except for the association between personal risk factors and hip/thigh disorders. Subsequently, WRMDs do not significantly contribute to explaining absenteeism. The managerial and research implications of this study are deliberately discussed.

Empathy-related Responding: Associations with Prosocial Behavior, Aggression, and Intergroup Relations

PubMed Central

Eisenberg, Nancy; Eggum, Natalie D.; Di Giunta, Laura

2010-01-01

Empathy-related responding, including empathy, sympathy, and personal distress, has been implicated in conceptual models and theories about prosocial behavior and altruism, aggression and antisocial behavior, and intergroup relationships. Conceptual arguments and empirical findings related to each of these topics are reviewed. In general, there is evidence that empathy and/or sympathy are important correlates of, and likely contributors to, other-oriented prosocial behavior, the inhibition of aggression and antisocial behavior, and the quality of intergroup relationships. Applied implications of these findings, including preventative studies, are discussed, as are possible future directions. PMID:21221410

Identification of Mycobacterial Genes Involved in Antibiotic Sensitivity: Implications for the Treatment of Tuberculosis with β-Lactam-Containing Regimens

PubMed Central

Viswanathan, Gopinath; Yadav, Sangya

2017-01-01

ABSTRACT In a Mycobacterium smegmatis mutant library screen, transposon mutants with insertions in fhaA, dprE2, rpsT, and parA displayed hypersusceptibility to antibiotics, including the β-lactams meropenem, ampicillin, amoxicillin, and cefotaxime. Sub-MIC levels of octoclothepin, a psychotic drug inhibiting ParA, phenocopied the parA insertion and enhanced the bactericidal activity of meropenem against Mycobacterium tuberculosis in combination with clavulanate. Our study identifies novel factors associated with antibiotic resistance, with implications in repurposing β-lactams for tuberculosis treatment. PMID:28438925

[Influence of early childhood stress exposure and traumatic life events on pain perception].

PubMed

Tesarz, J; Gerhardt, A; Eich, W

2018-06-05

Adult pain perception is influenced substantially by interactions between mind, body, and social environment during early life. Early stress exposure and traumatic life events induce powerful psychophysical stress reactions that exert multiple neurofunctional processes. This has significant implications for pain perception and pain processing. As part of this review, the complex relationships between traumatic stress experiences and associated psychobiological mechanisms of chronic pain will be discussed. Based on selected studies, psychophysiological findings are presented and possible underlying mechanisms are discussed. The article concludes with a discussion of potential implications for treatment.

Marine Cyanobacteria Compounds with Anticancer Properties: A Review on the Implication of Apoptosis

PubMed Central

Costa, Margarida; Costa-Rodrigues, João; Fernandes, Maria Helena; Barros, Piedade; Vasconcelos, Vitor; Martins, Rosário

2012-01-01

Marine cyanobacteria have been considered a rich source of secondary metabolites with potential biotechnological applications, namely in the pharmacological field. Chemically diverse compounds were found to induce cytoxicity, anti-inflammatory and antibacterial activities. The potential of marine cyanobacteria as anticancer agents has however been the most explored and, besides cytotoxicity in tumor cell lines, several compounds have emerged as templates for the development of new anticancer drugs. The mechanisms implicated in the cytotoxicity of marine cyanobacteria compounds in tumor cell lines are still largely overlooked but several studies point to an implication in apoptosis. This association has been related to several apoptotic indicators such as cell cycle arrest, mitochondrial dysfunctions and oxidative damage, alterations in caspase cascade, alterations in specific proteins levels and alterations in the membrane sodium dynamics. In the present paper a compilation of the described marine cyanobacterial compounds with potential anticancer properties is presented and a review on the implication of apoptosis as the mechanism of cell death is discussed. PMID:23170077

The Associations of Financial Stress and Parenting Support Factors with Alcohol Behaviors During Young Adulthood

PubMed Central

Lawry, Charles; Li, Gu; Conger, Katherine J.; Russell, Stephen T.

2014-01-01

This study examined concurrent and prospective associations of financial stress (financial strain, lack of financial access, public assistance) and parenting support factors (relationship quality, living at home, financial support) with young adults’ alcohol behaviors (alcohol use, heavy drinking, and problematic drinking) over a 5-year period. Analyses of National Longitudinal Study of Adolescent Health (Add Health) data (N = 7,159) showed that, over the study period, alcohol use and heavy drinking declined while problematic drinking increased. In addition, living at home and parental relationship quality were associated with fewer concurrent and prospective alcohol behaviors whereas financial strain and parents’ financial support were associated with more alcohol behaviors. The implications for minimizing alcohol misuse in young adults amid uncertain economic conditions are discussed. PMID:26388681

TGFβ Receptor 1: An Immune Susceptibility Gene in HPV-Associated Cancer

PubMed Central

Levovitz, Chaya; Chen, Dan; Ivansson, Emma; Gyllensten, Ulf; Finnigan, John P.; Alshawish, Sara; Zhang, Weijia; Schadt, Eric E.; Posner, Marshal R.; Genden, Eric M.; Boffetta, Paolo; Sikora, Andrew G.

2015-01-01

Only a minority of those exposed to human papillomavirus (HPV) develop HPV-related cervical and oropharyngeal cancer. Because host immunity affects infection and progression to cancer, we tested the hypothesis that genetic variation in immune-related genes is a determinant of susceptibility to oropharyngeal cancer and other HPV-associated cancers by performing a multitier integrative computational analysis with oropharyngeal cancer data from a head and neck cancer genome-wide association study (GWAS). Independent analyses, including single-gene, gene-interconnectivity, protein–protein interaction, gene expression, and pathway analysis, identified immune genes and pathways significantly associated with oropharyngeal cancer. TGFβR1, which intersected all tiers of analysis and thus selected for validation, replicated significantly in the head and neck cancer GWAS limited to HPV-seropositive cases and an independent cervical cancer GWAS. The TGFβR1 containing p38–MAPK pathway was significantly associated with oropharyngeal cancer and cervical cancer, and TGFβR1 was overexpressed in oropharyngeal cancer, cervical cancer, and HPV+ head and neck cancer tumors. These concordant analyses implicate TGFβR1 signaling as a process dysregulated across HPV-related cancers. This study demonstrates that genetic variation in immune-related genes is associated with susceptibility to oropharyngeal cancer and implicates TGFβR1/TGFβ signaling in the development of both oropharyngeal cancer and cervical cancer. Better understanding of the immunogenetic basis of susceptibility to HPV-associated cancers may provide insight into host/virus interactions and immune processes dysregulated in the minority of HPV-exposed individuals who progress to cancer. PMID:25273091

2017 update on the relationship between diabetes and colorectal cancer: epidemiology, potential molecular mechanisms and therapeutic implications

PubMed Central

Ardura, Juan Antonio; Corton, Marta; Fernández-Fernández, Beatriz; Aguilera, Oscar; Gomez-Guerrero, Carmen; Mas, Sebastián; Moreno, Juan Antonio; Ruiz-Ortega, Marta; Sanz, Ana Belen; Sanchez-Niño, Maria Dolores; Rojo, Federico; Vivanco, Fernando; Esbrit, Pedro; Ayuso, Carmen; Alvarez-Llamas, Gloria; Egido, Jesús; García-Foncillas, Jesús; Ortiz, Alberto

2017-01-01

Worldwide deaths from diabetes mellitus (DM) and colorectal cancer increased by 90% and 57%, respectively, over the past 20 years. The risk of colorectal cancer was estimated to be 27% higher in patients with type 2 DM than in non-diabetic controls. However, there are potential confounders, information from lower income countries is scarce, across the globe there is no correlation between DM prevalence and colorectal cancer incidence and the association has evolved over time, suggesting the impact of additional environmental factors. The clinical relevance of these associations depends on understanding the mechanism involved. Although evidence is limited, insulin use has been associated with increased and metformin with decreased incidence of colorectal cancer. In addition, colorectal cancer shares some cellular and molecular pathways with diabetes target organ damage, exemplified by diabetic kidney disease. These include epithelial cell injury, activation of inflammation and Wnt/β-catenin pathways and iron homeostasis defects, among others. Indeed, some drugs have undergone clinical trials for both cancer and diabetic kidney disease. Genome-wide association studies have identified diabetes-associated genes (e.g. TCF7L2) that may also contribute to colorectal cancer. We review the epidemiological evidence, potential pathophysiological mechanisms and therapeutic implications of the association between DM and colorectal cancer. Further studies should clarify the worldwide association between DM and colorectal cancer, strengthen the biological plausibility of a cause-and-effect relationship through characterization of the molecular pathways involved, search for specific molecular signatures of colorectal cancer under diabetic conditions, and eventually explore DM-specific strategies to prevent or treat colorectal cancer. PMID:28060743

A survey of copy number variation in the porcine genome detected from whole-genome sequence

USDA-ARS?s Scientific Manuscript database

An important challenge to post-genomic biology is relating observed phenotypic variation to the underlying genotypic variation. Genome-wide association studies (GWAS) have made thousands of connections between single nucleotide polymorphisms (SNPs) and phenotypes, implicating regions of the genome t...

Intergenerational Continuity in Child Maltreatment: Mediating Mechanisms and Implications for Prevention

ERIC Educational Resources Information Center

Berlin, Lisa J.; Appleyard, Karen; Dodge, Kenneth A.

2011-01-01

In the interest of improving child maltreatment prevention, this prospective, longitudinal, community-based study of 499 mothers and their infants examined (a) direct associations between mothers' experiences of childhood maltreatment and their offspring's maltreatment, and (b) mothers' mental health problems, social isolation, and social…

Dimensions of Publicness and Performance in Substance Abuse Treatment Organizations

ERIC Educational Resources Information Center

Heinrich, Carolyn J.; Fournier, Elizabeth

2004-01-01

Changes in funding, clientele, and treatment practices of public and privately owned substance abuse treatment programs, compelled in part by increased cost containment pressures, have prompted researchers' investigations of the implications of organizational form for treatment programs. These studies primarily probe associations between ownership…

Commentary: Ubiquitous Computing Revisited--A New Perspective

ERIC Educational Resources Information Center

Bull, Glen; Garofalo, Joe

2006-01-01

In 2002, representatives from the teacher educator associations representing the core content areas (science, mathematics, language arts, and social studies) and educational technology met at the National Technology Leadership Retreat (NTLR) to discuss potential implications of ubiquitous computing for K-12 schools. This paper re-examines some of…

Plasma biomarkers of chronic inflammation are elevated in overweight Mexican-American children

USDA-ARS?s Scientific Manuscript database

Excess body weight is associated with an accumulation of chronic, low-grade inflammation that has been implicated in the pathophysiology of various diseases. The obesity epidemic is more prevalent in certain ethnic groups. Despite this health disparity, few published studies have measured biomarke...

Heart Rate and Reinforcement Sensitivity in ADHD

ERIC Educational Resources Information Center

Luman, Marjolein; Oosterlaan, Jaap; Hyde, Christopher; van Meel, Catharina S.; Sergeant, Joseph A.

2007-01-01

Background: Both theoretical and clinical accounts of attention-deficit/hyperactivity disorder (ADHD) implicate a dysfunctional reinforcement system. This study investigated heart rate parameters in response to feedback associated with reward and response cost in ADHD children and controls aged 8 to 12. Methods: Heart rate responses (HRRs)…

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

PubMed Central

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.

2016-01-01

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

Novel association of the obesity risk-allele near Fas Apoptotic Inhibitory molecule 2 (FAIM2) gene with heart rate and study of its effects on myocardial infarction in diabetic participants of the PREDIMED trial

USDA-ARS?s Scientific Manuscript database

The Fas apoptotic pathway has been implicated in type 2 diabetes and cardiovascular disease. Although a polymorphism (rs7138803; G'>'A) near the Fas apoptotic inhibitory molecule 2 (FAIM2) locus has been related to obesity, its association with other cardiovascular risk factors and disease remains u...

The Effect of Weight on Self-Concept, and Psychosocial Correlates of Physical Activity in Youths

ERIC Educational Resources Information Center

Welk, Gregory J.; Joens-Matre, Roxane

2007-01-01

Much more attention has been given to the health implications of overweight and obesity than to the psychosocial implications. In order to combat obesity effectively, it is important to understand the implications of overweight on self-concept, self-esteem, and physical activity levels. Youth obesity has been associated with negative psychosocial…

Working models of attachment to parents and partners: implications for emotional behavior between partners.

PubMed

Mehta, Neera; Cowan, Philip A; Cowan, Carolyn P

2009-12-01

This study examined whether working models of attachment are associated with observed positive emotion, sadness, and anger during marital conflict. Individuals (n = 176) from a longitudinal study of families participated in the current cross-sectional study. Narrative interviews assessed the unique and combined contribution of attachment representations based on parents (adult attachment) and partner (couple attachment). The influence of partner's attachment, depression symptoms, and sex of participant was also examined. Hierarchical linear models demonstrated that one's couple attachment security predicts one's observed positive emotion, whereas the partner's couple attachment security predicts one's observed negative emotion. Partner's depression symptoms moderated the effects of partner's couple attachment. Adult attachment was not related to observed emotional behavior between partners. These findings have important clinical implications for individual, couple, and family therapy.

Stress, coping styles, and hopelessness in self-poisoners.

PubMed

Elliott, J L; Frude, N

2001-01-01

This study examined the association between level of hopelessness with stress and coping style for a sample of 80 people who had recently attempted suicide. Higher levels of hopelessness were found to be associated with higher levels of stress. Level of hopelessness was also associated with the use of problem-focused but not with emotion-focused coping. Analyses of the interaction between stress and coping style suggested that these variables influence the level of hopelessness in an independent and linear fashion. The implications for clinical intervention are discussed.

Healthy and happy in Europe? On the association between happiness and life expectancy over time.

PubMed

Bjørnskov, Christian

2008-04-01

This paper revisits the standard finding in individual-level studies that happiness leads to longevity. It does so in a cross-country time-series analysis in which the use of a random effects estimator controls for most relevant time-invariant factors. The findings suggest that happiness is negatively associated with longevity at the national level, and suggests a potential indirect transmission channel, as national happiness is negatively associated with public health expenditures. The paper concludes by discussing the implications of the results for public policy and future research.

Examining unsupervised time with peers and the role of association with delinquent peers on adolescent smoking.

PubMed

Greene, Kathryn; Banerjee, Smita C

2009-04-01

This study explored the association between unsupervised time with peers and adolescent smoking behavior both directly and indirectly through interaction with delinquent peers, social expectancies about cigarette smoking, and cigarette offers from peers. A cross-sectional survey was used for the study and included 248 male and female middle school students. Results of structural equation modeling revealed that unsupervised time with peers is associated indirectly with adolescent smoking behavior through the mediation of association with delinquent peers, social expectancies about cigarette smoking, and cigarette offers from peers. Interventions designed to motivate adolescents without adult supervision to associate more with friends who engage in prosocial activities may eventually reduce adolescent smoking. Further implications for structured supervised time for students outside of school time are discussed.

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.

PubMed

Sanna-Cherchi, Simone; Khan, Kamal; Westland, Rik; Krithivasan, Priya; Fievet, Lorraine; Rasouly, Hila Milo; Ionita-Laza, Iuliana; Capone, Valentina P; Fasel, David A; Kiryluk, Krzysztof; Kamalakaran, Sitharthan; Bodria, Monica; Otto, Edgar A; Sampson, Matthew G; Gillies, Christopher E; Vega-Warner, Virginia; Vukojevic, Katarina; Pediaditakis, Igor; Makar, Gabriel S; Mitrotti, Adele; Verbitsky, Miguel; Martino, Jeremiah; Liu, Qingxue; Na, Young-Ji; Goj, Vinicio; Ardissino, Gianluigi; Gigante, Maddalena; Gesualdo, Loreto; Janezcko, Magdalena; Zaniew, Marcin; Mendelsohn, Cathy Lee; Shril, Shirlee; Hildebrandt, Friedhelm; van Wijk, Joanna A E; Arapovic, Adela; Saraga, Marijan; Allegri, Landino; Izzi, Claudia; Scolari, Francesco; Tasic, Velibor; Ghiggeri, Gian Marco; Latos-Bielenska, Anna; Materna-Kiryluk, Anna; Mane, Shrikant; Goldstein, David B; Lifton, Richard P; Katsanis, Nicholas; Davis, Erica E; Gharavi, Ali G

2017-11-02

Renal agenesis and hypodysplasia (RHD) are major causes of pediatric chronic kidney disease and are highly genetically heterogeneous. We conducted whole-exome sequencing in 202 case subjects with RHD and identified diagnostic mutations in genes known to be associated with RHD in 7/202 case subjects. In an additional affected individual with RHD and a congenital heart defect, we found a homozygous loss-of-function (LOF) variant in SLIT3, recapitulating phenotypes reported with Slit3 inactivation in the mouse. To identify genes associated with RHD, we performed an exome-wide association study with 195 unresolved case subjects and 6,905 control subjects. The top signal resided in GREB1L, a gene implicated previously in Hoxb1 and Shha signaling in zebrafish. The significance of the association, which was p = 2.0 × 10 -5 for novel LOF, increased to p = 4.1 × 10 -6 for LOF and deleterious missense variants combined, and augmented further after accounting for segregation and de novo inheritance of rare variants (joint p = 2.3 × 10 -7 ). Finally, CRISPR/Cas9 disruption or knockdown of greb1l in zebrafish caused specific pronephric defects, which were rescued by wild-type human GREB1L mRNA, but not mRNA containing alleles identified in case subjects. Together, our study provides insight into the genetic landscape of kidney malformations in humans, presents multiple candidates, and identifies SLIT3 and GREB1L as genes implicated in the pathogenesis of RHD. Copyright © 2017 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

Cognitive content specificity in anxiety and depressive disorder symptoms: a twin study of cross-sectional associations with anxiety sensitivity dimensions across development.

PubMed

Brown, H M; Waszczuk, M A; Zavos, H M S; Trzaskowski, M; Gregory, A M; Eley, T C

2014-12-01

The classification of anxiety and depressive disorders has long been debated and has important clinical implications. The present study combined a genetically sensitive design and multiple time points to investigate cognitive content specificity in anxiety and depressive disorder symptoms across anxiety sensitivity dimensions, a cognitive distortion implicated in both disorders. Phenotypic and genetic correlations between anxiety sensitivity dimensions, anxiety and depressive disorder symptoms were examined at five waves of data collection within childhood, adolescence and early adulthood in two representative twin studies (n pairs = 300 and 1372). The physical concerns dimension of anxiety sensitivity (fear of bodily symptoms) was significantly associated with anxiety but not depression at all waves. Genetic influences on physical concerns overlapped substantially more with anxiety than depression. Conversely, mental concerns (worry regarding cognitive control) were phenotypically more strongly associated with depression than anxiety. Social concerns (fear of publicly observable symptoms of anxiety) were associated with both anxiety and depression in adolescence. Genetic influences on mental and social concerns were shared to a similar extent with both anxiety and depression. Phenotypic patterns of cognitive specificity and broader genetic associations between anxiety sensitivity dimensions, anxiety and depressive disorder symptoms were similar at all waves. Both disorder-specific and shared cognitive concerns were identified, suggesting it is appropriate to classify anxiety and depression as distinct but related disorders and confirming the clinical perspective that cognitive therapy is most likely to benefit by targeting cognitive concerns relating specifically to the individual's presenting symptoms across development.

Nostalgia-Evoked Inspiration: Mediating Mechanisms and Motivational Implications.

PubMed

Stephan, Elena; Sedikides, Constantine; Wildschut, Tim; Cheung, Wing-Yee; Routledge, Clay; Arndt, Jamie

2015-10-01

Six studies examined the nostalgia-inspiration link and its motivational implications. In Study 1, nostalgia proneness was positively associated with inspiration frequency and intensity. In Studies 2 and 3, the recollection of nostalgic (vs. ordinary) experiences increased both general inspiration and specific inspiration to engage in exploratory activities. In Study 4, serial mediational analyses supported a model in which nostalgia increases social connectedness, which subsequently fosters self-esteem, which then boosts inspiration. In Study 5, a rigorous evaluation of this serial mediational model (with a novel nostalgia induction controlling for positive affect) reinforced the idea that nostalgia-elicited social connectedness increases self-esteem, which then heightens inspiration. Study 6 extended the serial mediational model by demonstrating that nostalgia-evoked inspiration predicts goal pursuit (intentions to pursue an important goal). Nostalgia spawns inspiration via social connectedness and attendant self-esteem. In turn, nostalgia-evoked inspiration bolsters motivation. © 2015 by the Society for Personality and Social Psychology, Inc.

New Sequence Variants in HLA Class II/III Region Associated with Susceptibility to Knee Osteoarthritis Identified by Genome-Wide Association Study

PubMed Central

Nakajima, Masahiro; Takahashi, Atsushi; Kou, Ikuyo; Rodriguez-Fontenla, Cristina; Gomez-Reino, Juan J.; Furuichi, Tatsuya; Dai, Jin; Sudo, Akihiro; Uchida, Atsumasa; Fukui, Naoshi; Kubo, Michiaki; Kamatani, Naoyuki; Tsunoda, Tatsuhiko; Malizos, Konstantinos N.; Tsezou, Aspasia; Gonzalez, Antonio; Nakamura, Yusuke; Ikegawa, Shiro

2010-01-01

Osteoarthritis (OA) is a common disease that has a definite genetic component. Only a few OA susceptibility genes that have definite functional evidence and replication of association have been reported, however. Through a genome-wide association study and a replication using a total of ∼4,800 Japanese subjects, we identified two single nucleotide polymorphisms (SNPs) (rs7775228 and rs10947262) associated with susceptibility to knee OA. The two SNPs were in a region containing HLA class II/III genes and their association reached genome-wide significance (combined P = 2.43×10−8 for rs7775228 and 6.73×10−8 for rs10947262). Our results suggest that immunologic mechanism is implicated in the etiology of OA. PMID:20305777

Beyond genome-wide association studies: genetic heterogeneity and individual predisposition to cancer

PubMed Central

Galvan, Antonella; Ioannidis, John P.A.; Dragani, Tommaso A.

2010-01-01

Genome-wide association studies (GWAS) using population-based designs have identified many genetic loci associated with risk of a range of complex diseases including cancer; however, each locus exerts a very small effect and most heritability remains unexplained. Family-based pedigree studies have also suggested tentative loci linked to increased cancer risk, often characterized by pedigree-specificity. However, a comparison between the results of population-and those of family-based studies shows little concordance. Explanations for this unidentified genetic ‘dark matter’ of cancer include phenotype ascertainment issues, limited power, gene-gene and gene-environment interactions, population heterogeneity, parent-of-origin-specific effects, rare and unexplored variants. Many of these reasons converge towards the concept of genetic heterogeneity that might implicate hundreds of genetic variants in regulating cancer risk. Dissecting the dark matter is a challenging task. Further insights can be gained from both population association and pedigree studies. PMID:20106545

Implications of parent-child relationships for emerging adults' subjective feelings about adulthood.

PubMed

Lindell, Anna K; Campione-Barr, Nicole; Killoren, Sarah E

2017-10-01

Little is known about the role of parents in promoting their children's successful transition to adulthood, particularly for college students who may maintain stronger ties to parents than other emerging adults. The present study therefore investigated longitudinal implications of parent-child relationship qualities during emerging adults' first year of college for their feelings about the upcoming transition to adulthood 3 years later, as well as implications of 3 types of parental control (behavioral control, psychological control, helicopter parenting) for these associations. Multilevel models indicated that emerging adults who reported less negativity in their relationships with mothers and fathers felt more like adults 3 years later compared with emerging adults with low-quality relationships, while high levels of psychological control and helicopter parenting had detrimental implications for their vocational identity development and perceived competence regarding their transition to adulthood. However, nuanced interactions between parent-child relationship quality and parental control indicated that behavioral control had positive implications for outcomes if it occurred within the context of high-quality relationships, or when utilized with sons. The present study highlights the complex role that parents may play during college students' transition to adulthood, and future work should continue to examine ways that clinicians can incorporate parents as a potential resource for promoting emerging adults' successful transition to adulthood and the workforce. (PsycINFO Database Record (c) 2017 APA, all rights reserved).

Read anything mean lately? associations between reading aggression in books and aggressive behavior in adolescents.

PubMed

Stockdale, Laura A; Coyne, Sarah M; Nelson, David A; Padilla-Walker, Laura M

2013-01-01

Although there have been hundreds of studies on media violence, few have focused on literature, with none examining novels. Accordingly, the aim of the current study was to examine whether reading physical and relational aggression in books was associated with aggressive behavior in adolescents. Participants consisted of 223 adolescents who completed a variety of measures detailing their media use and aggressive behavior. A non-recursive structural equation model revealed that reading aggression in books was positively associated with aggressive behavior, even after controlling for exposure to aggression in other forms of media. Associations were only found for congruent forms of aggression. Implications regarding books as a form of media are discussed. © 2013 Wiley Periodicals, Inc.

Listeria monocytogenes infection from foods prepared in a commercial establishment: a case-control study of potential sources of sporadic illness in the United States.

PubMed

Varma, Jay K; Samuel, Michael C; Marcus, Ruthanne; Hoekstra, Robert M; Medus, Carlota; Segler, Suzanne; Anderson, Bridget J; Jones, Timothy F; Shiferaw, Beletshachew; Haubert, Nicole; Megginson, Melanie; McCarthy, Patrick V; Graves, Lewis; Gilder, Thomas Van; Angulo, Frederick J

2007-02-15

Listeria monocytogenes has been estimated to cause >2500 illnesses and 500 deaths annually in the United States. Efforts to reduce foodborne listeriosis have focused on foods frequently implicated in outbreaks. Potential sources for L. monocytogenes infection not associated with outbreaks remain poorly understood. The Foodborne Diseases Active Surveillance Network conducts surveillance for culture-confirmed listeriosis at clinical laboratories in 9 states. After excluding outbreak-associated cases, we attempted to enroll eligible case patients with L. monocytogenes infection in a case-control study from 2000 through 2003. Control subjects were recruited through health care providers and were matched to case patients by state, age, and immunosuppression status. Data were collected about exposures occurring in the 4 weeks before specimen collection from the case patients. Of the 249 case patients with L. monocytogenes infection, only 12 (5%) had cases that were associated with outbreaks; 6 other patients were ineligible for other reasons. Of 231 eligible case patients, 169 (73%) were enrolled in the study. We classified 28 case patients as having pregnancy-associated cases. We enrolled 376 control subjects. In multivariable analysis, L. monocytogenes infection was associated with eating melons at a commercial establishment (odds ratio, 2.6; 95% confidence interval, 1.4-5.0) and eating hummus prepared in a commercial establishment (odds ratio, 5.7; 95% confidence interval, 1.7-19.1). Most cases of L. monocytogenes infection were not associated with outbreaks. Reducing the burden of foodborne listeriosis may require interventions directed at retail environments and at foods, such as melons and hummus, that are not commonly recognized as high risk. Because of the severity of listeriosis, pregnant women and other persons at risk may wish to avoid eating these newly implicated foods.

Polymorphisms within the COL5A1 gene and regulators of the extracellular matrix modify the risk of Achilles tendon pathology in a British case-control study.

PubMed

Brown, Karryn L; Seale, Kirsten B; El Khoury, Louis Y; Posthumus, Michael; Ribbans, William J; Raleigh, Stuart M; Collins, Malcolm; September, Alison V

2017-08-01

Several genetic loci have been associated with risk of Achilles tendon pathology (ATP) within South African and Australian populations. The aim of this study was, therefore, to evaluate eight previously implicated genetic variants in an independent British population. A total of 130 asymptomatic controls (CON) and 112 participants clinically diagnosed with ATP comprising 87 individuals with chronic Achilles tendinopathy (TEN) and 25 with Achilles tendon ruptures (RUP) were included. All participants were genotyped for variants within the COL5A1, MIR608, IL-1β, IL-6 and CASP8 genes. Primary findings implicated COL5A1 and CASP8. Three inferred allele combinations constructed from COL5A1 rs12722, rs3196378 and rs71746744 were identified as risk modifiers. The T-C-D combination was associated with increased risk of ATP (P = 0.023) and RUP (P < 0.001), the C-A-I combination was associated with increased risk of ATP (P = 0.011), TEN (P = 0.011) and RUP (P = 0.011) and the C-C-D combination was associated with decreased risk of ATP (P = 0.011) and RUP (P = 0.004). The CASP8 rs3834129 DD genotype was associated with decreased risk of TEN (P = 0.020, odds ratio: 0.45, 95% confidence interval: 0.22-0.90) and the CASP8 I-G (rs3834129-rs1045485) inferred allele combination was associated with increased risk of TEN (P = 0.031). This study further highlights the importance of polymorphisms within COL5A1 and CASP8 in the aetiology of ATP.

The cognitive and hedonic costs of dwelling on achievement-related negative experiences: implications for enduring happiness and unhappiness.

PubMed

Lyubomirsky, Sonja; Boehm, Julia K; Kasri, Fazilet; Zehm, Keri

2011-10-01

Increasing evidence suggests that multiple cognitive and motivational processes underlie individual differences in happiness (Lyubomirsky, 2001, 2008). One behavior that is associated with (un)happiness is self-reflection or dwelling. We hypothesized that unhappy individuals would be inclined to dwell about themselves, and that this behavior would have a variety of adverse consequences. Three studies tested the prediction that, unlike their happier peers, unhappy participants would be sensitive to unfavorable achievement feedback, likely to dwell about its implications and, hence, show impaired attention during important academic tasks. The results of Studies 1 and 2 showed that unhappy participants who had "failed" relative to peers subsequently displayed increased interfering thoughts; spent the most time performing a portion of the graduate record examination; and later demonstrated impaired reading comprehension. Study 3 experimentally induced versus inhibiting dwelling and found that the manipulation only impacted unhappy students. Implications of our results for the consequences of dwelling for work and social functioning, as well as for detracting from enduring happiness, are discussed.

Renewable Electricity Futures: Exploration of a U.S. Grid with 80% Renewable Electricity

NASA Astrophysics Data System (ADS)

Mai, Trieu

2013-04-01

Renewable Electricity Futures is an initial investigation of the extent to which renewable energy supply can meet the electricity demands of the contiguous United States over the next several decades. This study explores the implications and challenges of very high renewable electricity generation levels: from 30% up to 90% (focusing on 80%) of all U.S. electricity generation from renewable technologies in 2050. At such high levels of renewable electricity penetration, the unique characteristics of some renewable resources, specifically geographical distribution and variability and un-certainty in output, pose challenges to the operability of the nation's electric system. The study focuses on key technical implications of this environment from a national perspective, exploring whether the U.S. power system can supply electricity to meet customer demand on an hourly basis with high levels of renewable electricity, including variable wind and solar generation. The study also identifies some of the potential economic, environmental, and social implications of deploying and integrating high levels of renewable electricity in the U.S. The full report and associated supporting information is available at: http://www.nrel.gov/analysis/refutures/.

School, Family, and Peer Factors and Their Association with Substance Use in Hispanic Adolescents

PubMed Central

Wang, Wei; Schwartz, Seth J.; Prado, Guillermo; Huang, Shi; Brown, C. Hendricks; Pantin, Hilda; Szapocznik, José

2010-01-01

The purpose of the present study was to examine how relationships among family, school, and peer factors relate to likelihood of substance use in Hispanic adolescents. Results indicated that only perceived peer substance use was directly related to adolescents’ own substance use. A significant interaction was found between parental monitoring and peer use vis-à-vis substance use, which suggests that the relationship between parental monitoring and the adolescents’ own use was significantly stronger among youth who reported that more of their friends used substances. Implications of these results for the design of substance use preventive interventions are discussed. Editors’ Strategic Implications: This research is promising both in terms of the implications for targets of prevention programming and for the application of ecodevelopmental theory, which might guide similar efforts with different cultural groups. PMID:19949868

Theoretical Implications of Extralist Probes for Directed Forgetting

ERIC Educational Resources Information Center

Sahakyan, Lili; Goodmon, Leilani B.

2010-01-01

In 5 experiments, the authors examined the influence of associative information in list-method directed forgetting, using the extralist cuing procedure (Nelson & McEvoy, 2005). Targets were studied in the absence of cues, but during retrieval, related cues were used to test their memory. Experiment 1 manipulated the degree of resonant…

Teachers' Social-Emotional Capacity: Factors Associated with Teachers' Responsiveness and Professional Commitment

ERIC Educational Resources Information Center

Buettner, Cynthia K.; Jeon, Lieny; Hur, Eunhye; Garcia, Rachel E.

2016-01-01

Research Findings: Early care and education has pronounced implications for young children's social-emotional learning. Although program structural and classroom process quality indicators have been widely explored, teachers' personal social-emotional capacity has only recently been recognized as an indicator of quality. This study reviewed and…

Perceived Discrimination and Personality Development in Adulthood

ERIC Educational Resources Information Center

Sutin, Angelina R.; Stephan, Yannick; Terracciano, Antonio

2016-01-01

Perceived discrimination is common and a significant source of stress that may have implications for personality development across adulthood. In this study, we examined whether experiences with discrimination were associated with maladaptive changes in the 5 major dimensions of personality using 2 longitudinal samples that differed in age and…

High School Journalism Research: Community College Program Implications.

ERIC Educational Resources Information Center

Dvorak, Jack

1987-01-01

Reviews findings from a Journalism Education Association study comparing the American College Testing (ACT) Program standardized scores, writing samples, and Language Arts Survey responses of students who were involved in high school journalism programs with students who were not. Urges community college journalism educators to support high school…

Spontaneous fulminant gas gangrene.

PubMed

Delbridge, M S; Turton, E P L; Kester, R C

2005-07-01

Gas gangrene is a rare condition, usually associated with contaminated traumatic injuries. It carries a high rate of mortality and morbidity. A number of studies have implicated non-traumatic gas gangrene and colonic neoplasia. This paper reports a patient who presented spontaneously with Clostridium septicum gas gangrene and an occult caecal carcinoma.

Accounting for the Relationship between Initial Status and Growth in Regression Models

ERIC Educational Resources Information Center

Kelly, Sean; Ye, Feifei

2017-01-01

Educational analysts studying achievement and other educational outcomes frequently encounter an association between initial status and growth, which has important implications for the analysis of covariate effects, including group differences in growth. As explicated by Allison (1990), where only two time points of data are available, identifying…

Is More Always Better? The Curvilinear Relationships between College Student Experiences and Outcomes

ERIC Educational Resources Information Center

Bowman, Nicholas A.; Trolian, Teniell L.

2017-01-01

Many higher education studies have examined linear relationships between student experiences and outcomes, but this assumption may be questionable. In two notable examples previous research that assumed a linear relationship reached different substantive conclusions and implications than did research that explored non-linear associations among the…

Characteristics Associated with Sleep Duration, Chronotype, and Social Jet Lag in Adolescents

ERIC Educational Resources Information Center

Malone, Susan Kohl; Zemel, Babette; Compher, Charlene; Souders, Margaret; Chittams, Jesse; Thompson, Aleda Leis; Lipman, Terri H.

2016-01-01

Sleep is a complex behavior with numerous health implications. Identifying sociodemographic and behavioral characteristics of sleep is important for determining those at greatest risk for sleep-related health disparities. In this cross-sectional study, general linear models were used to examine sociodemographic and behavioral characteristics…

Environmental Uncertainty and External Resource Acquisition: Implications for a Developing Research University.

ERIC Educational Resources Information Center

Bjork, Lars G.

External resource acquisition was investigated as one factor associated with the development of the University of New Mexico from an undergraduate teaching institution toward becoming a nationally-ranked graduate research university. A longitudinal, ethnohistorical study was undertaken for the 1967-1978 period. The qualitative research methodology…

Comorbidity of Personality Disorders and Depression: Implications for Treatment.

ERIC Educational Resources Information Center

Shea, M. Tracie; And Others

1992-01-01

Reviews studies of impact of comorbidity of personality disorders and depression on response to various forms of treatment. Notes that findings support belief that personality disorders are associated with poorer response to treatment for depression. Also notes that limited data available suggest that depression may be positive prognostic…

School Organizational Effectiveness and Chronic Absenteeism: Implications for Accountability

ERIC Educational Resources Information Center

Lenhoff, Sarah Winchell; Pogodzinski, Ben

2018-01-01

Chronic absenteeism in K-12 schools is strongly associated with critical educational outcomes such as student achievement and graduation. Yet, the causes of chronic absenteeism are complex, with environmental, family/individual, and school factors all affecting the likelihood of a student attending school regularly. This exploratory study examines…

Psychoeducational Implications of Sex Chromosome Anomalies

ERIC Educational Resources Information Center

Wodrich, David L.; Tarbox, Jennifer

2008-01-01

Numerous anomalies involving the sex chromosomes (X or Y) have been documented and their impact on development, learning, and behavior studied. This article reviews three of these disorders, Turner syndrome, Klinefelter syndrome, and Lesch-Nyhan disease. Each of these three is associated with one or more selective impairments or behavioral…

Changes in College Student Health:Implications for Academic Performance

ERIC Educational Resources Information Center

Ruthig, Joelle C.; Marrone, Sonia; Hladkyj, Steve; Robinson-Epp, Nancy

2011-01-01

This study investigated the longitudinal associations of health perceptions and behaviors with subsequent academic performance among college students. Multiple health perceptions and behaviors were assessed for 203 college students both at the beginning and end of an academic year. Students' academic performance was also measured at the end of the…

Student Incivility: A Domain Review

ERIC Educational Resources Information Center

Burke, Lisa A.; Karl, Katherine; Peluchette, Joy; Evans, W. Randy

2014-01-01

A review of the literature was conducted on student incivility in higher education, with an eye toward implications for instructors in business. The incivility construct is defined in the context of numerous associated concepts that have been studied in the higher education literature. Evidence is shared about the prevalence of student incivility…

Associations among Nonword Repetition and Phonemic and Vocabulary Awareness: Implications for Intervention

ERIC Educational Resources Information Center

Tattersall, Patricia J.; Nelson, Nickola Wolf; Tyler, Ann A.

2015-01-01

Prior research has shown possible relations among nonword repetition (NWR), vocabulary, and phonological processing skills in children with and without language impairment. This study was designed to investigate whether relationships would differ for students with primary language impairment (PLI) and typical language (TL) and whether they would…

Open-Label Memantine in Fragile X Syndrome

ERIC Educational Resources Information Center

Erickson, Craig A.; Mullett, Jennifer E.; McDougle, Christopher J.

2009-01-01

Glutamatergic dysfunction is implicated in the pathophysiology of fragile X syndrome (FXS). The purpose of this pilot study was to examine the effectiveness and tolerability of memantine for a number of target symptoms associated with FXS. Medical records describing open-label treatment with memantine in 6 patients with FXS and a comorbid…

Gay-Straight Alliances, Social Justice Involvement, and School Victimization of Lesbian, Gay, Bisexual, and Queer Youth: Implications for School Well-Being and Plans to Vote

ERIC Educational Resources Information Center

Toomey, Russell B.; Russell, Stephen T.

2013-01-01

Few studies have investigated school-based, positive development for lesbian, gay, bisexual, and queer (LGBQ) youth, despite knowledge of their heightened negative school experiences compared to heterosexual youth (e.g., school victimization). This study examines associations among participation in Gay-Straight Alliance (GSA)--related social…

Bullying and Cyberbullying Studies in the School-Aged Population on the Island of Ireland: A Meta-Analysis

ERIC Educational Resources Information Center

Foody, Mairéad; Samara, Muthanna; O'Higgins Norman, James

2017-01-01

Background: Bullying research has gained a substantial amount of interest in recent years because of the implications for child and adolescent development. Aim and sample: We conducted a meta-analysis of traditional and cyberbullying studies in the Republic and North of Ireland to gain an understanding of prevalence rates and associated issues…

Researching the Practice of Fostering Transformative Learning: Lessons Learned From the Study of Andragogy

ERIC Educational Resources Information Center

Taylor, Edward W.; Laros, Anna

2014-01-01

This article identifies factors that have contributed to the challenges associated with the practice and research of fostering transformative learning (TL), by drawing on the work by Rachal and others in reviewing the study of andragogy--theory, research, and practice. Implications are also discussed of how scholars of TL can best respond to the…

Proceedings of the Annual Meeting of the Association for Education in Journalism and Mass Communication (81st, Baltimore, Maryland, August 5-8, 1998). Qualitative Studies.

ERIC Educational Resources Information Center

Association for Education in Journalism and Mass Communication.

The Qualitative Studies section of the Proceedings contains the following 10 papers: "An Alternative to Alternative Media'" (James Hamilton); "A Critical Assessment of News Coverage of the Ethical Implications of Genetic Testing" (David A. Craig); "Earth First! and the Boundaries of Postmodern Environmental…

Interactions Between Adrenal and Calcium-Regulatory Hormones in Human Health

PubMed Central

Brown, Jenifer M.; Vaidya, Anand

2014-01-01

Purpose of Review To summarize evidence characterizing the interactions between adrenal- and calcium-regulating hormones, and the relevance of these interactions to human cardiovascular and skeletal health. Recent Findings Human studies support the regulation of parathyroid hormone (PTH) by the renin-angiotensin-aldosterone system (RAAS): angiotensin II may stimulate PTH secretion via an acute and direct mechanism, whereas aldosterone may exert a chronic stimulation of PTH secretion. Studies in primary aldosteronism, congestive heart failure, and chronic kidney disease have identified associations between hyperaldosteronism, hyperparathyroidism, and bone loss, which appear to improve when inhibiting the RAAS. Conversely, elevated PTH and insufficient vitamin D status have been associated with adverse cardiovascular outcomes, which may be mediated by the RAAS. Studies of primary hyperparathyroidism implicate PTH-mediated stimulation of the RAAS, and recent evidence shows that the vitamin D-vitamin D receptor (VDR) complex may negatively regulate renin expression and RAAS activity. Ongoing human interventional studies are evaluating the influence of RAAS inhibition on PTH and the influence of VDR agonists on RAAS activity. Summary While previously considered independent endocrine systems, emerging evidence supports a complex web of interactions between adrenal and calcium-regulating hormones, with implications for human cardiovascular and skeletal health. PMID:24694551

Obesity is associated with genetic variants that alter dopamine availability.

PubMed

Need, A C; Ahmadi, K R; Spector, T D; Goldstein, D B

2006-05-01

Human and animal studies have implicated dopamine in appetite regulation, and family studies have shown that BMI has a strong genetic component. Dopamine availability is controlled largely by three enzymes: COMT, MAOA and MAOB, and by the dopamine transporter SLC6A3, and each gene has a well-characterized functional variant. Here we look at these four functional polymorphisms together, to investigate how heritable variation in dopamine levels influences the risk of obesity in a cohort of 1150, including 240 defined as obese (BMI > or = 30). The COMT and SLC6A3 polymorphisms showed no association with either weight, BMI or obesity risk. We found, however, that both MAOA and MAOB show an excess of the low-activity genotypes in obese individuals (MAOA:chi2= 15.45, p = 0.004; MAOB:chi2= 8.05, p = 0.018). Additionally, the MAOA genotype was significantly associated with both weight (p = 0.0005) and BMI (p = 0.001). When considered together, the 'at risk genotype'--low activity genotypes at both the MAOA and MAOB loci--shows a relative risk for obesity of 5.01. These results have not been replicated and, given the experience of complex trait genetics, warrant caution in interpretation. In implicating both the MAOA and MOAB variants, however, this study provides the first indication that dopamine availability (as opposed to other effects of MAOA) is involved in human obesity. It is therefore a priority to assess the associations in replication datasets.

Antithyroid Antibodies Are Implicated in Epileptogenesis of Adult Patients With Epilepsy.

PubMed

Tsai, Meng-Han; Fu, Ting-Ying; Chen, Nai-Ching; Shih, Fu-Yuan; Lu, Yan-Ting; Cheng, Mei-Yun; Chuang, Hung-Yi; Chuang, Yao-Chung

2015-07-01

Antithyroid antibodies (Abs) are associated with epilepsy in steroid-responsive encephalopathy, but have been rarely studied in unselected epilepsy patients. This study aimed to characterize the prevalence and associated factors of antithyroid Abs and other auto-Abs in adult patients with epilepsy.Epilepsy patients without autoimmune disorders were surveyed for antinuclear antibody (ANA), anti-β2 glycoprotein 1 antibody (aβ2GP1), anticardiolipin IgG Ab, antimicrosomal antibody (AMA), antithyroglobulin antibody (ATA), and thyroid function test.Of 319 patients, 75 (23.5%) were positive for at least 1 Ab. The most common Ab was anticardiolipin antibody (aCL) (30/319, 9.4%), followed by AMA (24/319, 7.5%), ANA (18/319, 5.6%), aβ2GP1 (18/319, 6.5%), and ATA (6/319, 3.25%). Antimicrosomal Abs were significantly more frequent in patients who were female, older at disease onset, older at the time of study, and had unknown seizure etiology. The presence of aCL was significantly associated with more frequent seizures. Most patients with antithyroid Ab were female and had focal seizures with unknown etiology.The association of different auto-Abs with different factors suggests that they may have different roles in adult patients with epilepsy. Recurrent seizures and certain antiepileptic medications may cause the production of aCL. The role of antithyroid Abs in adult focal epilepsy with unknown cause, especially in females, warrants further evaluation because of the potential implications on treatment.

Antithyroid Antibodies Are Implicated in Epileptogenesis of Adult Patients With Epilepsy

PubMed Central

Tsai, Meng-Han; Fu, Ting-Ying; Chen, Nai-Ching; Shih, Fu-Yuan; Lu, Yan-Ting; Cheng, Mei-Yun; Chuang, Hung-Yi; Chuang, Yao-Chung

2015-01-01

Abstract Antithyroid antibodies (Abs) are associated with epilepsy in steroid-responsive encephalopathy, but have been rarely studied in unselected epilepsy patients. This study aimed to characterize the prevalence and associated factors of antithyroid Abs and other auto-Abs in adult patients with epilepsy. Epilepsy patients without autoimmune disorders were surveyed for antinuclear antibody (ANA), anti-β2 glycoprotein 1 antibody (aβ2GP1), anticardiolipin IgG Ab, antimicrosomal antibody (AMA), antithyroglobulin antibody (ATA), and thyroid function test. Of 319 patients, 75 (23.5%) were positive for at least 1 Ab. The most common Ab was anticardiolipin antibody (aCL) (30/319, 9.4%), followed by AMA (24/319, 7.5%), ANA (18/319, 5.6%), aβ2GP1 (18/319, 6.5%), and ATA (6/319, 3.25%). Antimicrosomal Abs were significantly more frequent in patients who were female, older at disease onset, older at the time of study, and had unknown seizure etiology. The presence of aCL was significantly associated with more frequent seizures. Most patients with antithyroid Ab were female and had focal seizures with unknown etiology. The association of different auto-Abs with different factors suggests that they may have different roles in adult patients with epilepsy. Recurrent seizures and certain antiepileptic medications may cause the production of aCL. The role of antithyroid Abs in adult focal epilepsy with unknown cause, especially in females, warrants further evaluation because of the potential implications on treatment. PMID:26131823

Maternal Resolution of Grief After Preterm Birth: Implications for Infant Attachment Security

PubMed Central

Clements, Melissa; Poehlmann, Julie

2011-01-01

OBJECTIVE: This study explored the association between mothers' unresolved grief regarding their infant's preterm birth and infant-mother attachment security. We hypothesized that mothers with unresolved grief would be more likely to have insecurely attached infants at 16 months and that this association would be partially mediated by maternal interaction quality. METHODS: This longitudinal study focused on 74 preterm infants (age of <36 weeks) and their mothers who were part of a larger study of high-risk infants. The present analysis included assessment of neonatal and socioeconomic risks at NICU discharge; maternal depression, Reaction to Preterm Birth Interview findings, and quality of parenting at a postterm age of 9 months; and infant-mother attachment at postterm age of 16 months. Associations among findings of grief resolution with the Reaction to Preterm Birth Interview, quality of parenting interactions, and attachment security were explored by using relative risk ratios and logistic and multivariate regression models. RESULTS: The relative risk of developing insecure attachment when mothers had unresolved grief was 1.59 (95% confidence interval: 1.03–2.44). Controlling for covariates (adjusted odds ratio: 2.94), maternal feelings of resolved grief regarding the preterm birth experience were associated with secure infant-mother attachment at 16 months. Maternal grief resolution and interaction quality were independent predictors of attachment security. CONCLUSION: Maternal grief resolution regarding the experience of preterm birth and the quality of maternal interactions have important implications for emerging attachment security for infants born prematurely. PMID:21242223

Maternal resolution of grief after preterm birth: implications for infant attachment security.

PubMed

Shah, Prachi E; Clements, Melissa; Poehlmann, Julie

2011-02-01

This study explored the association between mothers' unresolved grief regarding their infant's preterm birth and infant-mother attachment security. We hypothesized that mothers with unresolved grief would be more likely to have insecurely attached infants at 16 months and that this association would be partially mediated by maternal interaction quality. This longitudinal study focused on 74 preterm infants (age of <36 weeks) and their mothers who were part of a larger study of high-risk infants. The present analysis included assessment of neonatal and socioeconomic risks at NICU discharge; maternal depression, Reaction to Preterm Birth Interview findings, and quality of parenting at a postterm age of 9 months; and infant-mother attachment at postterm age of 16 months. Associations among findings of grief resolution with the Reaction to Preterm Birth Interview, quality of parenting interactions, and attachment security were explored by using relative risk ratios and logistic and multivariate regression models. The relative risk of developing insecure attachment when mothers had unresolved grief was 1.59 (95% confidence interval: 1.03-2.44). Controlling for covariates (adjusted odds ratio: 2.94), maternal feelings of resolved grief regarding the preterm birth experience were associated with secure infant-mother attachment at 16 months. Maternal grief resolution and interaction quality were independent predictors of attachment security. Maternal grief resolution regarding the experience of preterm birth and the quality of maternal interactions have important implications for emerging attachment security for infants born prematurely.

Family-based association testing strongly implicates DRD2 as a risk gene for schizophrenia in Han Chinese from Taiwan

PubMed Central

Glatt, SJ; Faraone, SV; Lasky-Su, JA; Kanazawa, T; Hwu, H-G; Tsuang, MT

2009-01-01

The gene that codes for dopamine receptor D2 (DRD2 on chromosome 11q23) has long been a prime functional and positional candidate risk gene for schizophrenia. Collectively, prior case–control studies found a reliable effect of the Ser311Cys DRD2 polymorphism (rs1801028) on risk for schizophrenia, but few other polymorphisms in the gene had ever been evaluated and no adequately powered family-based association study has been performed to date. Our objective was to test 21 haplotype-tagging and all three known nonsynonymous single-nucleotide polymorphisms (SNPs) in DRD2 for association with schizophrenia in a family-based study of 2408 Han Chinese, including 1214 affected individuals from 616 families. We did not find a significant effect of rs1801028, but we did find significant evidence for association of schizophrenia with two multi-marker haplotypes spanning blocks of strong linkage disequilibrium (LD) and nine individual SNPs (Ps < 0.05). Importantly, two SNPs (rs1079727 and rs2283265) and both multi-marker haplotypes spanning entire LD blocks (including one that contained rs1801028) remained significant after correcting for multiple testing. These results further add to the body of data implicating DRD2 as a schizophrenia risk gene; however, a causal variant(s) in DRD2 remains to be elucidated by further fine mapping of the gene, with particular attention given to the area surrounding the third through fifth exons. PMID:18332877

The influence of endometriosis-related symptoms on work life and work ability: a study of Danish endometriosis patients in employment.

PubMed

Hansen, Karina E; Kesmodel, Ulrik S; Baldursson, Einar B; Schultz, Rikke; Forman, Axel

2013-07-01

Little is known about the implications of endometriosis on women's work life. This study aimed at examining the relation between endometriosis-related symptoms and work ability in employed women with endometriosis. In a cohort study, 610 patients with diagnosed endometriosis and 751 reference women completed an electronic survey based on the Endometriosis Health Profile 30-questionnaire and the Work Ability Index (short form). Percentages were reported for all data. Binary and multivariate logistic regression analyses were used to assess risk factors for low work ability. The level of statistical significance was set at p<0.025 in all analyses. In binary analyses a diagnosis of endometriosis was associated with more sick days, work disturbances due to symptoms, lower work ability and a wide number of other implications on work life in employed women. Moreover, a higher pain level and degree of symptoms were associated with low work ability. Full regression analysis indicated that tiredness, frequent pain, a higher daily pain level, a higher number of sick days and feeling depressed at work were associated with low work ability. A long delay from symptom onset to diagnosis was associated with low work ability. These data indicate a severe impact of endometriosis on the work ability of employed women with endometriosis and add to the evidence that this disease represents a significant socio-economic burden. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

A Common Missense Variant in the Neuregulin1 Gene is associated with Both Schizophrenia and Sudden Cardiac Death

PubMed Central

Huertas-Vazquez, Adriana; Teodorescu, Carmen; Reinier, Kyndaron; Uy-Evanado, Audrey; Chugh, Harpriya; Jerger, Katherine; Ayala, Jo; Gunson, Karen; Jui, Jonathan; Newton-Cheh, Christopher; Albert, Christine M.; Chugh, Sumeet S.

2013-01-01

Background Both schizophrenia and epilepsy have been linked to increased risk of sudden cardiac death (SCD). We hypothesized that DNA variants within genes previously associated with schizophrenia and epilepsy may contribute to an increased risk of SCD. Objective To investigate the contribution to SCD susceptibility of DNA variants previously implicated in schizophrenia and epilepsy. Methods From the ongoing Oregon Sudden Unexpected Death Study, comparisons were performed among 340 SCD cases presenting with ventricular fibrillation and 342 controls. We tested for association between 17 SNPs mapped to 14 loci previously implicated in schizophrenia and epilepsy using logistic regression, assuming additive, dominant and recessive genetic models. Results The minor allele of the non-synonymous SNP rs10503929 within the Neuregulin 1 gene (NRG1) was associated with SCD under all three investigated models, with the strongest association for the recessive genetic model (recessive P=4.01×10−5, OR= 4.04; additive P=2.84×10−7, OR= 1.9 and dominant P=9.01×10−6, OR= 2.06). To validate our findings, we further explored the association of this variant in the Harvard Cohort SCD study. The SNP rs10503929 was associated with an increased risk of SCD under the recessive genetic model (P=0.0005, OR= 2.7). This missense variation causes a methionine to threonine change and functional effects are currently unknown. Conclusions The observed association between a schizophrenia-related NRG1 variant and SCD may represent the first evidence of coexisting genetic susceptibility between two conditions that have an established clinical overlap. Further investigation is warranted to explore the molecular mechanisms of this variant in the pathogenesis of SCD. PMID:23524320

Confirmation of prior evidence of genetic susceptibility to alcoholism in a genome wide association study of comorbid alcoholism and bipolar disorder

PubMed Central

Lydall, Gregory J; Bass, Nicholas J; McQuillin, Andrew; Lawrence, Jacob; Anjorin, Adebayo; Kandaswamy, Radhika; Pereira, Ana; Guerrini, Irene; Curtis, David; Vine, Anna E; Sklar, Pamela; Purcell, Shaun M; Gurling, Hugh MD

2012-01-01

Objectives Alcoholism and affective disorders are both strongly comorbid and heritable. We have investigated the genetic comorbidity between bipolar affective disorder and alcoholism. Methods A genome-wide allelic association study of 506 patients from the University College London (UCL) bipolar disorder case control sample and 510 ancestrally-matched supernormal controls. 143 of the bipolar subjects fulfilled the research diagnostic criteria (RDC) diagnosis of alcoholism. 372,193 single nucleotide polymorphisms (SNPs) were genotyped. Genes previously shown to be associated with alcoholism and addiction phenotypes were then tested for association in the bipolar alcoholic sample using gene wise permutation tests of all SNPs genotyped within a 50kb region flanking each gene. Results Several CNS genes showed significant (p<0.05) gene wise evidence of association with bipolar alcoholism. The genes implicated which replicated previously identified associations with alcoholism were: cadherin 11 (CDH11), collagen type XI alpha 2 (COL11A2), neuromedin U receptor 2 (NMUR2), exportin7 (XP07) and semaphorin associated protein 5A (SEMA5A). The SNPs most strongly implicated in bipolar alcoholism, but which did not meet conventional genome-wide significance criteria were the insulin-like growth factor binding protein 7 (IGFBP7), carboxypeptidase O (CPO), cerebellin 2 (CBLN2), and the cadherin 12 (CDH12) genes. Conclusions We have confirmed the role of some genes previously shown to be associated with alcoholism in the comorbid bipolar alcoholism subgroup. In this subgroup bipolar disorder may lower the threshold for the phenotypic expression of these alcoholism susceptibility genes. We also show that some genes may independently increase susceptibility to affective disorder and alcoholism. PMID:21876473

Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation

PubMed Central

Christophersen, Ingrid E.; Rienstra, Michiel; Roselli, Carolina; Yin, Xiaoyan; Geelhoed, Bastiaan; Barnard, John; Lin, Honghuang; Arking, Dan E.; Smith, Albert V.; Albert, Christine M.; Chaffin, Mark; Tucker, Nathan R.; Li, Molong; Klarin, Derek; Bihlmeyer, Nathan A; Low, Siew-Kee; Weeke, Peter E.; Müller-Nurasyid, Martina; Smith, J. Gustav; Brody, Jennifer A.; Niemeijer, Maartje N.; Dörr, Marcus; Trompet, Stella; Huffman, Jennifer; Gustafsson, Stefan; Schurman, Claudia; Kleber, Marcus E.; Lyytikäinen, Leo-Pekka; Seppälä, Ilkka; Malik, Rainer; Horimoto, Andrea R. V. R.; Perez, Marco; Sinisalo, Juha; Aeschbacher, Stefanie; Thériault, Sébastien; Yao, Jie; Radmanesh, Farid; Weiss, Stefan; Teumer, Alexander; Choi, Seung Hoan; Weng, Lu-Chen; Clauss, Sebastian; Deo, Rajat; Rader, Daniel J.; Shah, Svati; Sun, Albert; Hopewell, Jemma C.; Debette, Stephanie; Chauhan, Ganesh; Yang, Qiong; Worrall, Bradford B.; Paré, Guillaume; Kamatani, Yoichiro; Hagemeijer, Yanick P.; Verweij, Niek; Siland, Joylene E.; Kubo, Michiaki; Smith, Jonathan D.; Van Wagoner, David R.; Bis, Joshua C.; Perz, Siegfried; Psaty, Bruce M.; Ridker, Paul M.; Magnani, Jared W.; Harris, Tamara B.; Launer, Lenore J.; Shoemaker, M. Benjamin; Padmanabhan, Sandosh; Haessler, Jeffrey; Bartz, Traci M.; Waldenberger, Melanie; Lichtner, Peter; Arendt, Marina; Krieger, Jose E.; Kähönen, Mika; Risch, Lorenz; Mansur, Alfredo J.; Peters, Annette; Smith, Blair H.; Lind, Lars; Scott, Stuart A.; Lu, Yingchang; Bottinger, Erwin B.; Hernesniemi, Jussi; Lindgren, Cecilia M.; Wong, Jorge; Huang, Jie; Eskola, Markku; Morris, Andrew P.; Ford, Ian; Reiner, Alex P.; Delgado, Graciela; Chen, Lin Y.; Chen, Yii-Der Ida; Sandhu, Roopinder K.; Li, Man; Boerwinkle, Eric; Eisele, Lewin; Lannfelt, Lars; Rost, Natalia; Anderson, Christopher D.; Taylor, Kent D.; Campbell, Archie; Magnusson, Patrik K.; Porteous, David; Hocking, Lynne J.; Vlachopoulou, Efthymia; Pedersen, Nancy L.; Nikus, Kjell; Orho-Melander, Marju; Hamsten, Anders; Heeringa, Jan; Denny, Joshua C.; Kriebel, Jennifer; Darbar, Dawood; Newton-Cheh, Christopher; Shaffer, Christian; Macfarlane, Peter W.; Heilmann, Stefanie; Almgren, Peter; Huang, Paul L.; Sotoodehnia, Nona; Soliman, Elsayed Z.; Uitterlinden, Andre G.; Hofman, Albert; Franco, Oscar H.; Völker, Uwe; Jöckel, Karl-Heinz; Sinner, Moritz F.; Lin, Henry J.; Guo, Xiuqing; Dichgans, Martin; Ingelsson, Erik; Kooperberg, Charles; Melander, Olle; Loos, Ruth J. F.; Laurikka, Jari; Conen, David; Rosand, Jonathan; van der Harst, Pim; Lokki, Marja-Liisa; Kathiresan, Sekar; Pereira, Alexandre; Jukema, J. Wouter; Hayward, Caroline; Rotter, Jerome I.; März, Winfried; Lehtimäki, Terho; Stricker, Bruno H.; Chung, Mina K.; Felix, Stephan B.; Gudnason, Vilmundur; Alonso, Alvaro; Roden, Dan M.; Kääb, Stefan; Chasman, Daniel I.; Heckbert, Susan R.; Benjamin, Emelia J.; Tanaka, Toshihiro; Lunetta, Kathryn L.; Lubitz, Steven A.; Ellinor, Patrick T.

2017-01-01

Atrial fibrillation affects more than 33 million people worldwide and increases the risk of stroke, heart failure, and death.1,2 Fourteen genetic loci have been associated with atrial fibrillation in European and Asian ancestry groups.3–7 To further define the genetic basis of atrial fibrillation, we performed large-scale, multi-racial meta-analyses of common and rare variant association studies. The genome-wide association studies (GWAS) included 18,398 individuals with atrial fibrillation and 91,536 referents; the exome-wide association studies (ExWAS) and rare variant association studies (RVAS) involved 22,806 cases and 132,612 referents. We identified 12 novel genetic loci that exceeded genome-wide significance, implicating genes involved in cardiac electrical and structural remodeling. Our results nearly double the number of known genetic loci for atrial fibrillation, provide insights into the molecular basis of atrial fibrillation, and may facilitate new potential targets for drug discovery.8 PMID:28416818

Some new food for thought: the role of vitamin D in the mental health of older adults.

PubMed

Cherniack, E Paul; Troen, Bruce R; Florez, Hermes J; Roos, Bernard A; Levis, Silvina

2009-02-01

Vitamin D, a multipurpose steroid hormone vital to health, has been increasingly implicated in the pathology of cognition and mental illness. Hypovitaminosis D is prevalent among older adults, and several studies suggest an association between hypovitaminosis D and basic and executive cognitive functions, depression, bipolar disorder, and schizophrenia. Vitamin D activates receptors on neurons in regions implicated in the regulation of behavior, stimulates neurotrophin release, and protects the brain by buffering antioxidant and anti-inflammatory defenses against vascular injury and improving metabolic and cardiovascular function. Although additional studies are needed to examine the impact of supplementation on cognition and mood disorders, given the known health benefits of vitamin D, we recommend greater supplementation in older adults.

Sharing, liking, commenting, and distressed? The pathway between Facebook interaction and psychological distress.

PubMed

Chen, Wenhong; Lee, Kye-Hyoung

2013-10-01

Studies on the mental health implications of social media have generated mixed results. Drawing on a survey of college students (N=513), this research uses structural equation modeling to assess the relationship between Facebook interaction and psychological distress and two underlying mechanisms: communication overload and self-esteem. It is the first study, to our knowledge, that examines how communication overload mediates the mental health implications of social media. Frequent Facebook interaction is associated with greater distress directly and indirectly via a two-step pathway that increases communication overload and reduces self-esteem. The research sheds light on new directions for understanding psychological well-being in an increasingly mediated social world as users share, like, and comment more and more.

Hundreds of variants clustered in genomic loci and biological pathways affect human height

PubMed Central

Lango Allen, Hana; Estrada, Karol; Lettre, Guillaume; Berndt, Sonja I.; Weedon, Michael N.; Rivadeneira, Fernando; Willer, Cristen J.; Jackson, Anne U.; Vedantam, Sailaja; Raychaudhuri, Soumya; Ferreira, Teresa; Wood, Andrew R.; Weyant, Robert J.; Segrè, Ayellet V.; Speliotes, Elizabeth K.; Wheeler, Eleanor; Soranzo, Nicole; Park, Ju-Hyun; Yang, Jian; Gudbjartsson, Daniel; Heard-Costa, Nancy L.; Randall, Joshua C.; Qi, Lu; Smith, Albert Vernon; Mägi, Reedik; Pastinen, Tomi; Liang, Liming; Heid, Iris M.; Luan, Jian'an; Thorleifsson, Gudmar; Winkler, Thomas W.; Goddard, Michael E.; Lo, Ken Sin; Palmer, Cameron; Workalemahu, Tsegaselassie; Aulchenko, Yurii S.; Johansson, Åsa; Zillikens, M.Carola; Feitosa, Mary F.; Esko, Tõnu; Johnson, Toby; Ketkar, Shamika; Kraft, Peter; Mangino, Massimo; Prokopenko, Inga; Absher, Devin; Albrecht, Eva; Ernst, Florian; Glazer, Nicole L.; Hayward, Caroline; Hottenga, Jouke-Jan; Jacobs, Kevin B.; Knowles, Joshua W.; Kutalik, Zoltán; Monda, Keri L.; Polasek, Ozren; Preuss, Michael; Rayner, Nigel W.; Robertson, Neil R.; Steinthorsdottir, Valgerdur; Tyrer, Jonathan P.; Voight, Benjamin F.; Wiklund, Fredrik; Xu, Jianfeng; Zhao, Jing Hua; Nyholt, Dale R.; Pellikka, Niina; Perola, Markus; Perry, John R.B.; Surakka, Ida; Tammesoo, Mari-Liis; Altmaier, Elizabeth L.; Amin, Najaf; Aspelund, Thor; Bhangale, Tushar; Boucher, Gabrielle; Chasman, Daniel I.; Chen, Constance; Coin, Lachlan; Cooper, Matthew N.; Dixon, Anna L.; Gibson, Quince; Grundberg, Elin; Hao, Ke; Junttila, M. Juhani; Kaplan, Lee M.; Kettunen, Johannes; König, Inke R.; Kwan, Tony; Lawrence, Robert W.; Levinson, Douglas F.; Lorentzon, Mattias; McKnight, Barbara; Morris, Andrew P.; Müller, Martina; Ngwa, Julius Suh; Purcell, Shaun; Rafelt, Suzanne; Salem, Rany M.; Salvi, Erika; Sanna, Serena; Shi, Jianxin; Sovio, Ulla; Thompson, John R.; Turchin, Michael C.; Vandenput, Liesbeth; Verlaan, Dominique J.; Vitart, Veronique; White, Charles C.; Ziegler, Andreas; Almgren, Peter; Balmforth, Anthony J.; Campbell, Harry; Citterio, Lorena; De Grandi, Alessandro; Dominiczak, Anna; Duan, Jubao; Elliott, Paul; Elosua, Roberto; Eriksson, Johan G.; Freimer, Nelson B.; Geus, Eco J.C.; Glorioso, Nicola; Haiqing, Shen; Hartikainen, Anna-Liisa; Havulinna, Aki S.; Hicks, Andrew A.; Hui, Jennie; Igl, Wilmar; Illig, Thomas; Jula, Antti; Kajantie, Eero; Kilpeläinen, Tuomas O.; Koiranen, Markku; Kolcic, Ivana; Koskinen, Seppo; Kovacs, Peter; Laitinen, Jaana; Liu, Jianjun; Lokki, Marja-Liisa; Marusic, Ana; Maschio, Andrea; Meitinger, Thomas; Mulas, Antonella; Paré, Guillaume; Parker, Alex N.; Peden, John F.; Petersmann, Astrid; Pichler, Irene; Pietiläinen, Kirsi H.; Pouta, Anneli; Ridderstråle, Martin; Rotter, Jerome I.; Sambrook, Jennifer G.; Sanders, Alan R.; Schmidt, Carsten Oliver; Sinisalo, Juha; Smit, Jan H.; Stringham, Heather M.; Walters, G.Bragi; Widen, Elisabeth; Wild, Sarah H.; Willemsen, Gonneke; Zagato, Laura; Zgaga, Lina; Zitting, Paavo; Alavere, Helene; Farrall, Martin; McArdle, Wendy L.; Nelis, Mari; Peters, Marjolein J.; Ripatti, Samuli; van Meurs, Joyce B.J.; Aben, Katja K.; Ardlie, Kristin G; Beckmann, Jacques S.; Beilby, John P.; Bergman, Richard N.; Bergmann, Sven; Collins, Francis S.; Cusi, Daniele; den Heijer, Martin; Eiriksdottir, Gudny; Gejman, Pablo V.; Hall, Alistair S.; Hamsten, Anders; Huikuri, Heikki V.; Iribarren, Carlos; Kähönen, Mika; Kaprio, Jaakko; Kathiresan, Sekar; Kiemeney, Lambertus; Kocher, Thomas; Launer, Lenore J.; Lehtimäki, Terho; Melander, Olle; Mosley, Tom H.; Musk, Arthur W.; Nieminen, Markku S.; O'Donnell, Christopher J.; Ohlsson, Claes; Oostra, Ben; Palmer, Lyle J.; Raitakari, Olli; Ridker, Paul M.; Rioux, John D.; Rissanen, Aila; Rivolta, Carlo; Schunkert, Heribert; Shuldiner, Alan R.; Siscovick, David S.; Stumvoll, Michael; Tönjes, Anke; Tuomilehto, Jaakko; van Ommen, Gert-Jan; Viikari, Jorma; Heath, Andrew C.; Martin, Nicholas G.; Montgomery, Grant W.; Province, Michael A.; Kayser, Manfred; Arnold, Alice M.; Atwood, Larry D.; Boerwinkle, Eric; Chanock, Stephen J.; Deloukas, Panos; Gieger, Christian; Grönberg, Henrik; Hall, Per; Hattersley, Andrew T.; Hengstenberg, Christian; Hoffman, Wolfgang; Lathrop, G.Mark; Salomaa, Veikko; Schreiber, Stefan; Uda, Manuela; Waterworth, Dawn; Wright, Alan F.; Assimes, Themistocles L.; Barroso, Inês; Hofman, Albert; Mohlke, Karen L.; Boomsma, Dorret I.; Caulfield, Mark J.; Cupples, L.Adrienne; Erdmann, Jeanette; Fox, Caroline S.; Gudnason, Vilmundur; Gyllensten, Ulf; Harris, Tamara B.; Hayes, Richard B.; Jarvelin, Marjo-Riitta; Mooser, Vincent; Munroe, Patricia B.; Ouwehand, Willem H.; Penninx, Brenda W.; Pramstaller, Peter P.; Quertermous, Thomas; Rudan, Igor; Samani, Nilesh J.; Spector, Timothy D.; Völzke, Henry; Watkins, Hugh; Wilson, James F.; Groop, Leif C.; Haritunians, Talin; Hu, Frank B.; Kaplan, Robert C.; Metspalu, Andres; North, Kari E.; Schlessinger, David; Wareham, Nicholas J.; Hunter, David J.; O'Connell, Jeffrey R.; Strachan, David P.; Wichmann, H.-Erich; Borecki, Ingrid B.; van Duijn, Cornelia M.; Schadt, Eric E.; Thorsteinsdottir, Unnur; Peltonen, Leena; Uitterlinden, André; Visscher, Peter M.; Chatterjee, Nilanjan; Loos, Ruth J.F.; Boehnke, Michael; McCarthy, Mark I.; Ingelsson, Erik; Lindgren, Cecilia M.; Abecasis, Gonçalo R.; Stefansson, Kari; Frayling, Timothy M.; Hirschhorn, Joel N

2010-01-01

Most common human traits and diseases have a polygenic pattern of inheritance: DNA sequence variants at many genetic loci influence phenotype. Genome-wide association (GWA) studies have identified >600 variants associated with human traits1, but these typically explain small fractions of phenotypic variation, raising questions about the utility of further studies. Here, using 183,727 individuals, we show that hundreds of genetic variants, in at least 180 loci, influence adult height, a highly heritable and classic polygenic trait2,3. The large number of loci reveals patterns with important implications for genetic studies of common human diseases and traits. First, the 180 loci are not random, but instead are enriched for genes that are connected in biological pathways (P=0.016), and that underlie skeletal growth defects (P<0.001). Second, the likely causal gene is often located near the most strongly associated variant: in 13 of 21 loci containing a known skeletal growth gene, that gene was closest to the associated variant. Third, at least 19 loci have multiple independently associated variants, suggesting that allelic heterogeneity is a frequent feature of polygenic traits, that comprehensive explorations of already-discovered loci should discover additional variants, and that an appreciable fraction of associated loci may have been identified. Fourth, associated variants are enriched for likely functional effects on genes, being over-represented amongst variants that alter amino acid structure of proteins and expression levels of nearby genes. Our data explain ∼10% of the phenotypic variation in height, and we estimate that unidentified common variants of similar effect sizes would increase this figure to ∼16% of phenotypic variation (∼20% of heritable variation). Although additional approaches are needed to fully dissect the genetic architecture of polygenic human traits, our findings indicate that GWA studies can identify large numbers of loci that implicate biologically relevant genes and pathways. PMID:20881960

Science Education in the Rural United States. Implications for the Twenty-First Century. A Yearbook of the Association for the Education of Teachers in Science.

ERIC Educational Resources Information Center

Otto, Paul B., Ed.

This yearbook of the Association for the Education of Teachers in Science (AETS) is designed to give a perspective on rural science education. It is presented in a sequence which leads from the definition and philosophy of rural science education, to the status of rural science education, research implications, the integration of science within…

Early-starting conduct problems: intersection of conduct problems and poverty.

PubMed

Shaw, Daniel S; Shelleby, Elizabeth C

2014-01-01

The current article reviews extant literature on the intersection between poverty and the development of conduct problems (CP) in early childhood. Associations between exposure to poverty and disruptive behavior are reviewed through the framework of models emphasizing how the stressors associated with poverty indirectly influence child CP by compromising parent psychological resources, investments in children's welfare, and/or caregiving quality. We expand on the best-studied model, the family stress model, by emphasizing the mediating contribution of parent psychological resources on children's risk for early CP, in addition to the mediating effects of parenting. Specifically, we focus on the contribution of maternal depression, in terms of both compromising parenting quality and exposing children to higher levels of stressful events and contexts. Implications of the adapted family stress model are then discussed in terms of its implications for the prevention and treatment of young children's emerging CP.

Sexual revictimization: double betrayal and the risk associated with dissociative amnesia.

PubMed

Wager, Nadia M

2013-01-01

This study aimed to identify new treatment targets in order to develop more empirically informed initiatives to prevent sexual revictimization. A retrospective Web-based survey employing a mixed-methods design attracted a self-selecting sample of 481 community respondents, 183 of whom indicated a history of childhood sexual abuse. Seventy-four percent were females whose ages ranged from 16 to 69 years (mean = 31.2 years). Betrayal trauma referred to CSA committed by a trusted perpetrator (often caregivers). Disclosure experiences in childhood were reported though open-dialogue boxes. Double betrayal referred to high-betrayal trauma being combined with a negative response to a disclosure. This was associated with both higher incidences of prior psychogenic amnesia for CSA and sexual revictimization in later life. The findings have implications for educating the guardians of children about the prevalence and implications of CSA as well as the importance of early recognition and appropriate responding.

Ritualistic child sexual abuse in post-conflict Eastern DRC: Factors associated with the phenomenon and implications for social work.

PubMed

Kasherwa, Amani Clovis; Twikirize, Janestic Mwende

2018-04-30

Ritualistic child sexual abuse (RCSA) is a critical and under-recognised form of child maltreatment prevailing in developing countries. In the Democratic Republic of Congo (DRC), children from specific communities suffer complex forms of RCSA perpetrated with extreme brutality by various individuals and groups of conspirators. Although the DRC has achieved significant milestones towards combatting war-related sexual abuse of women and children, disturbing forms of RCSA, notably child kidnapping, rape, child defilement for fetish and superstitious beliefs, child sexual exploitation, and cult-based child marriage persist and affect many victims. This study examines the factors associated with the resurgence of RCSA in post-conflict eastern DRC. The article also discusses the implications of such forms of abuse for social work practice and education in a post-war context. Copyright © 2018 Elsevier Ltd. All rights reserved.

I think, therefore I am: a twin study of attributional style in adolescents.

PubMed

Lau, Jennifer Y F; Rijsdijk, Frühling; Eley, Thalia C

2006-07-01

Parenting factors may be important to the development of attributional style in adolescence, which in turn relates to depression symptoms. These relationships have mainly been considered in terms of social risk mechanisms, and little is known about the role of genetic influences. Self-reported measures of attributional style, depression symptoms and parental disciplinary styles were administered to over 1300 adolescent twin and sibling pairs. Model-fitting techniques were used to examine the role of genetic and environmental influences. Moderate genetic influences on attributional style were demonstrated, and furthermore, its association with depression reflected considerable genetic effects. Familial factors were implicated in the association between attributional style and punitive parenting, although genetic from shared environmental causes could not be distinguished. Our results demonstrate that attributional style is influenced by genetic, as well as social factors. Implications for aetiological pathways integrating cognitive, genetic and social factors on adolescent depression are discussed.

Early-Onset Conduct Problems: Intersection of Conduct Problems and Poverty

PubMed Central

Shaw, Daniel S.; Shelleby, Elizabeth C.

2014-01-01

The current paper reviewed extant literature on the intersection between poverty and the development of conduct problems (CP) in early childhood. Associations between exposure to poverty and disruptive behavior were reviewed through the framework of models emphasizing how the stressors associated with poverty indirectly influence child CP by compromising parent psychological resources, investments in children’s welfare, and/or caregiving quality. We expanded upon the most well studied of these models, the family stress model, by emphasizing the mediating contribution of parent psychological resources on children’s risk for early CP, in addition to the mediating effects of parenting. Specifically, in we focused on the contribution of maternal depression, both in terms of compromising parenting quality and exposing children to even higher levels of stressful events and contexts. Implications of the adapted family stress model were then discussed in terms of its implications for the prevention and treatment of young children’s emerging CP. PMID:24471370

The Moderated Influence of Perceived Behavioral Control on Intentions among the General U.S. Population: Implications for Public Communication Campaigns

PubMed Central

Martinez, Lourdes S.; Lewis, Nehama

2016-01-01

This study reports results from a large population-based survey of U.S. adults showing perceived behavioral control (PBC) moderations of associations between (1) attitude and intention, and (2) perceived norms and intention to engage in six health behaviors. Results are based on data collected from a nationally representative sample of U.S. adults ages 40-70 (N=2,489) and extend understanding of how behavioral theory can be used to guide the design and evaluation of health communication campaigns. OLS regression analyses show evidence for a significant positive PBC moderation of (1) attitude and intention, and (2) perceived norms and intention such that attitude or perceived norms toward the behavior is more strongly associated with behavioral intention among participants reporting higher levels of PBC. Implications for message design and the evaluation of communication campaigns are discussed. PMID:27565188

Lessons from ten years of genome-wide association studies of asthma

PubMed Central

Vicente, Cristina T; Revez, Joana A; Ferreira, Manuel A R

2017-01-01

Twenty-five genome-wide association studies (GWAS) of asthma were published between 2007 and 2016, the largest with a sample size of 157242 individuals. Across these studies, 39 genetic variants in low linkage disequilibrium (LD) with each other were reported to associate with disease risk at a significance threshold of P<5 × 10−8, including 31 in populations of European ancestry. Results from analyses of the UK Biobank data (n=380 503) indicate that at least 28 of the 31 associations reported in Europeans represent true-positive findings, collectively explaining 2.5% of the variation in disease liability (median of 0.06% per variant). We identified 49 transcripts as likely target genes of the published asthma risk variants, mostly based on LD with expression quantitative trait loci (eQTL). Of these genes, 16 were previously implicated in disease pathophysiology by functional studies, including TSLP, TNFSF4, ADORA1, CHIT1 and USF1. In contrast, at present, there is limited or no functional evidence directly implicating the remaining 33 likely target genes in asthma pathophysiology. Some of these genes have a known function that is relevant to allergic disease, including F11R, CD247, PGAP3, AAGAB, CAMK4 and PEX14, and so could be prioritized for functional follow-up. We conclude by highlighting three areas of research that are essential to help translate GWAS findings into clinical research or practice, namely validation of target gene predictions, understanding target gene function and their role in disease pathophysiology and genomics-guided prioritization of targets for drug development. PMID:29333270

How Strong Is the Evidence that Illicit Drug Use by Young People Is an Important Cause of Psychological or Social Harm? Methodological and Policy Implications of a Systematic Review of Longitudinal, General Population Studies

ERIC Educational Resources Information Center

MacLeod, John; Oakes, Rachel; Oppenkowski, Thomas; Stokes-Lampard, Helen; Copello, Alex; Crome, Ilana; Davey Smith, George; Egger, Matthias; Hickman, Mathew; Judd, Ali

2004-01-01

Recreational use of illicit drugs (i.e. use not associated with a diagnosed drug problem) may cause psychological and social harm. A recent systematic review found that evidence for this was equivocal. Extensive evidence was only available in relation to cannabis use. This was relatively consistently associated with lower educational attainment…

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

DOE Office of Scientific and Technical Information (OSTI.GOV)

McKown, Athena; Klapste, Jaroslav; Guy, Robert

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).

Rotenone, Paraquat, and Parkinson’s Disease

PubMed Central

Tanner, Caroline M.; Kamel, Freya; Ross, G. Webster; Hoppin, Jane A.; Goldman, Samuel M.; Korell, Monica; Marras, Connie; Bhudhikanok, Grace S.; Kasten, Meike; Chade, Anabel R.; Comyns, Kathleen; Richards, Marie Barber; Meng, Cheryl; Priestley, Benjamin; Fernandez, Hubert H.; Cambi, Franca; Umbach, David M.; Blair, Aaron; Sandler, Dale P.; Langston, J. William

2011-01-01

Background Mitochondrial dysfunction and oxidative stress are pathophysiologic mechanisms implicated in experimental models and genetic forms of Parkinson’s disease (PD). Certain pesticides may affect these mechanisms, but no pesticide has been definitively associated with PD in humans. Objectives Our goal was to determine whether pesticides that cause mitochondrial dysfunction or oxidative stress are associated with PD or clinical features of parkinsonism in humans. Methods We assessed lifetime use of pesticides selected by mechanism in a case–control study nested in the Agricultural Health Study (AHS). PD was diagnosed by movement disorders specialists. Controls were a stratified random sample of all AHS participants frequency-matched to cases by age, sex, and state at approximately three controls: one case. Results In 110 PD cases and 358 controls, PD was associated with use of a group of pesticides that inhibit mitochondrial complex I [odds ratio (OR) = 1.7; 95% confidence interval (CI), 1.0–2.8] including rotenone (OR = 2.5; 95% CI, 1.3–4.7) and with use of a group of pesticides that cause oxidative stress (OR = 2.0; 95% CI, 1.2–3.6), including paraquat (OR = 2.5; 95% CI, 1.4–4.7). Conclusions PD was positively associated with two groups of pesticides defined by mechanisms implicated experimentally—those that impair mitochondrial function and those that increase oxidative stress—supporting a role for these mechanisms in PD pathophysiology. PMID:21269927

As fathers and felons: explaining the effects of current and recent incarceration on major depression.

PubMed

Turney, Kristin; Wildeman, Christopher; Schnittker, Jason

2012-01-01

Dramatic increases in the American imprisonment rate since the mid-1970s have important implications for the life chances of minority men with low educational attainment, including for their health. Although a large literature has considered the collateral consequences of incarceration for a variety of outcomes, studies concerned with health have several limitations: Most focus exclusively on physical health; those concerned with mental health only consider current incarceration or previous incarceration, but never both; some are cross-sectional; many fail to consider mechanisms; and virtually all neglect the role of family processes, thereby overlooking the social roles current and former prisoners inhabit. In this article, we use stress process theory to extend this research by first considering the association between incarceration and major depression and then considering potential mechanisms that explain this association. Results from the Fragile Families and Child Wellbeing Study (N = 3,107) show current and recent incarceration are substantially associated with the risk of major depression, suggesting both immediate and short-term implications. In addition, consistent with stress proliferation theory, the results show the well-known consequences of incarceration for socioeconomic status and family functioning partly explain these associations, suggesting the link between incarceration and depression depends heavily on the consequences of incarceration for economic and social reintegration, not only the direct psychological consequences of confinement.

Revision of the Word Association Test for assessing associations of patients reporting satanic ritual abuse in childhood.

PubMed

Leavitt, F; Labott, S M

1998-11-01

A growing number of psychiatric patients report satanic ritual abuse, prompting research into this controversial area. In the current study, the Word Association Test (WAT) was modified to assess experience with satanic abuse. Pilot work resulted in norms for two domains: normative and satanic. Female psychiatric patients were compared on their associations in two studies. Based on a sexual history, they were grouped into those reporting sexual abuse, those reporting satanic ritual abuse (SRA), and those without a history of sexual abuse (controls). In both studies, SRA patients gave significantly more total associations, significantly fewer normative associations, and significantly more satanic associations than did the other two groups. These results suggest that an experience base is shared by individuals reporting SRA that is not found in individuals who do not report satanic abuse (even if they do report sexual abuse). The implications of these findings are discussed from the perspective of arguments advanced by advocates and critics of SRA.

The effect of public social context on self-control: depletion for neuroticism and restoration for impression management.

PubMed

Uziel, Liad; Baumeister, Roy F

2012-03-01

The present study explores the role of personality in moderating the effect of public social context on self-control. The authors predicted that in public settings neuroticism would be associated with ego-depletion effects and individual differences in impression management (IM) would be associated with restoration effects. Three experiments supported the hypothesis. In Study 1 neuroticism was associated with impaired self-control and IM was associated with enhanced self-control following an initial phase of working on a simple task in public (vs. in private). Study 2 replicated and extended these results to other domains of self-control. Study 3 explored whether public social context can cancel out early depletion effects. In this study, depleted participants engaged in a task that required self-control either alone or in public. As expected, the public settings were associated with restored self-control resources mostly among high IM individuals. Implications for self-control, neuroticism, and IM are discussed.

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

PubMed Central

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

Identifying the facets of impulsivity that explain the relation between ADHD symptoms and substance use in a nonclinical sample

PubMed Central

Roberts, Walter; Peters, Jessica R.; Adams, Zachary W.; Lynam, Donald R.; Milich, Richard

2014-01-01

Adults with attention-deficit/hyperactivity disorder (ADHD) are at higher risk to use substances than their nonclinical peers. Increased levels of impulsivity are generally thought to contribute to their increased levels of risk. Impulsivity is a multifaceted construct, however, and little research to date has attempted to identify which facets of impulsivity contribute to the increased rates of substance abuse among individuals with ADHD. The current study examined the relation among ADHD symptom clusters (i.e., hyperactivity/impulsivity and inattention), substance use rates (i.e., alcohol use, nicotine use, and marijuana use), and personality processes associated with impulsive behavior in a group of young adults. Participants were 361 undergraduate students. Both symptom clusters were positively associated with rates of substance use. Specifically, hyperactive/impulsive symptoms were associated with alcohol and nicotine use, and inattentive symptoms were associated with alcohol use. Several pathways from hyperactive/impulsive symptoms to alcohol, nicotine, and marijuana use via specific facets of impulsivity were identified. These findings have implications for understanding the relation between ADHD symptoms and substance use, as well as clinical implications for preventing and treating substance use problems in individuals with symptoms of ADHD. PMID:24813555

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

PubMed

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.

Cognition and Health Literacy in Older Adults’ Recall of Self-Care Information

PubMed Central

Madison, Anna; Gao, Xuefei; Graumlich, James F.; Conner-Garcia, Thembi; Murray, Michael D.; Stine-Morrow, Elizabeth A. L.; Morrow, Daniel G.

2017-01-01

Abstract Purpose of the Study: Health literacy is associated with health outcomes presumably because it influences the understanding of information needed for self-care. However, little is known about the language comprehension mechanisms that underpin health literacy. Design and Methods: We explored the relationship between a commonly used measure of health literacy (Short Test of Functional Health Literacy in Adults [STOFHLA]) and comprehension of health information among 145 older adults. Results: Results showed that performance on the STOFHLA was associated with recall of health information. Consistent with the Process-Knowledge Model of Health Literacy, mediation analysis showed that both processing capacity and knowledge mediated the association between health literacy and recall of health information. In addition, knowledge moderated the effects of processing capacity limits, such that processing capacity was less likely to be associated with recall for older adults with higher levels of knowledge. Implications: These findings suggest that knowledge contributes to health literacy and can compensate for deficits in processing capacity to support comprehension of health information among older adults. The implications of these findings for improving patient education materials for older adults with inadequate health literacy are discussed. PMID:26209450

Genome-Wide Association Studies of Drug-Resistance Determinants.

PubMed

Volkman, Sarah K; Herman, Jonathan; Lukens, Amanda K; Hartl, Daniel L

2017-03-01

Population genetic strategies that leverage association, selection, and linkage have identified drug-resistant loci. However, challenges and limitations persist in identifying drug-resistance loci in malaria. In this review we discuss the genetic basis of drug resistance and the use of genome-wide association studies, complemented by selection and linkage studies, to identify and understand mechanisms of drug resistance and response. We also discuss the implications of nongenetic mechanisms of drug resistance recently reported in the literature, and present models of the interplay between nongenetic and genetic processes that contribute to the emergence of drug resistance. Throughout, we examine artemisinin resistance as an example to emphasize challenges in identifying phenotypes suitable for population genetic studies as well as complications due to multiple-factor drug resistance. Copyright © 2016. Published by Elsevier Ltd.

Evaluation of methodology for the analysis of 'time-to-event' data in pharmacogenomic genome-wide association studies.

PubMed

Syed, Hamzah; Jorgensen, Andrea L; Morris, Andrew P

2016-06-01

To evaluate the power to detect associations between SNPs and time-to-event outcomes across a range of pharmacogenomic study designs while comparing alternative regression approaches. Simulations were conducted to compare Cox proportional hazards modeling accounting for censoring and logistic regression modeling of a dichotomized outcome at the end of the study. The Cox proportional hazards model was demonstrated to be more powerful than the logistic regression analysis. The difference in power between the approaches was highly dependent on the rate of censoring. Initial evaluation of single-nucleotide polymorphism association signals using computationally efficient software with dichotomized outcomes provides an effective screening tool for some design scenarios, and thus has important implications for the development of analytical protocols in pharmacogenomic studies.

Review of research on residential mobility during pregnancy: consequences for assessment of prenatal environmental exposures

PubMed Central

Bell, Michelle L.; Belanger, Kathleen

2012-01-01

Studies on environmental exposures during pregnancy often have limited residential history (e.g., at delivery), potentially introducing exposure misclassification. We reviewed studies reporting residential mobility during pregnancy to summarize current evidence and discuss research implications. A meaningful quantitative combination of results (e.g., meta-analysis), was infeasible owing to variation in study designs. Fourteen studies were identified, of which half were from the US. Most were case-control studies examining birth defects. Residential history was typically assessed after delivery. Overall mobility rates were 9–32% and highest in the second trimester. Mobility generally declined with age, parity, and socioeconomic status, although not consistently. Married mothers moved less frequently. Findings were dissimilar by race, smoking, or alcohol use. On the basis of the few studies reporting distance moved, most distances were short (median often <10 km). Results indicate potential misclassification for environmental exposures estimated with incomplete residential information. This misclassification could be associated with potential confounders, such as socioeconomics, thereby affecting risk estimates. As most moves were short distances, exposures that are homogenous within a community may be well estimated with limited residential data. Future research should consider the implications of residential mobility during pregnancy in relation to the exposure’s spatial heterogeneity and factors associated with the likelihood of moving and distance moved. PMID:22617723

Exploring the advantages of using social network sites (SNSs) in dental medicine organisations.

PubMed

Franco, Mário; Pais, Leonor

2017-05-08

Purpose The purpose of this paper is to deepen and contribute to knowledge of the use of social network sites (SNSs) in organisations, and more precisely, identify the advantages. Design/methodology/approach To reach this objective, a cross-section study was adopted based on application of a questionnaire, the final sample consisting of 78 dental medicine organisations in Portugal. Findings The results obtained lead to the conclusion that a great number of the organisations studied are connected to SNSs, particularly Facebook. The advantages associated with marketing tools and breaking down barriers between the organisation and the world are those highlighted most in this study. Practical implications According to the empirical evidence obtained, organisations are found to use these sites for other purposes, such as communicating with clients/patients and receiving feedback on the service provided to increase satisfaction and improve the quality of services. Originality/value The study contributes to advancing theory in the field of internet research strategic. More precisely, this study is associated with the creation of a theoretical framework that shows the advantages of using SNSs in an innovative context: dental medicine organisations. A categorisation of these advantages and some implications for theory and practice are also some contributions of this study.

Clinical and economic impact of antibiotic resistance in developing countries: A systematic review and meta-analysis.

PubMed

Founou, Raspail Carrel; Founou, Luria Leslie; Essack, Sabiha Yusuf

2017-01-01

Despite evidence of the high prevalence of antibiotic resistant infections in developing countries, studies on the clinical and economic impact of antibiotic resistance (ABR) to inform interventions to contain its emergence and spread are limited. The aim of this study was to analyze the published literature on the clinical and economic implications of ABR in developing countries. A systematic search was carried out in Medline via PubMed and Web of Sciences and included studies published from January 01, 2000 to December 09, 2016. All papers were considered and a quality assessment was performed using the Newcastle-Ottawa quality assessment scale (NOS). Of 27 033 papers identified, 40 studies met the strict inclusion and exclusion criteria and were finally included in the qualitative and quantitative analysis. Mortality was associated with resistant bacteria, and statistical significance was evident with an odds ratio (OR) 2.828 (95%CI, 2.231-3.584; p = 0.000). ESKAPE pathogens was associated with the highest risk of mortality and with high statistical significance (OR 3.217; 95%CIs; 2.395-4.321; p = 0.001). Eight studies showed that ABR, and especially antibiotic-resistant ESKAPE bacteria significantly increased health care costs. ABR is associated with a high mortality risk and increased economic costs with ESKAPE pathogens implicated as the main cause of increased mortality. Patients with non-communicable disease co-morbidities were identified as high-risk populations.

Attachment Insecurity and Infidelity in Marriage: Do Studies of Dating Relationships Really Inform Us about Marriage?

PubMed Central

Russell, V. Michelle; Baker, Levi R.; McNulty, James K.

2013-01-01

Attachment theory provides a useful framework for predicting marital infidelity. However, most research has examined the association between attachment and infidelity in unmarried individuals, and we are aware of no research that has examined the role of partner attachment in predicting infidelity. In contrast to research showing that attachment anxiety is unrelated to infidelity among dating couples, 2 longitudinal studies of 207 newlywed marriages demonstrated that own and partner attachment anxiety interacted to predict marital infidelity, such that spouses were more likely to perpetrate infidelity when either they or their partner was high (vs. low) in attachment anxiety. Further, and also in contrast to research on dating couples, own attachment avoidance was unrelated to infidelity whereas partner attachment avoidance was negatively associated with infidelity indicating that spouses were less likely to perpetrate infidelity when their partner was high (vs. low) in attachment avoidance. These effects emerged controlling for marital satisfaction, sexual frequency, and personality, did not differ across husbands and wives, and did not differ across the two studies, with the exception that the negative association between partner attachment avoidance and own infidelity only emerged in one of the two studies. These findings offer a more complete understanding of the implications of attachment insecurity for marital infidelity and suggest that studies of unmarried individuals may not provide complete insights into the implications of various psychological traits and processes for marriage. PMID:23544923

Clinical and economic impact of antibiotic resistance in developing countries: A systematic review and meta-analysis

PubMed Central

Founou, Luria Leslie; Essack, Sabiha Yusuf

2017-01-01

Introduction Despite evidence of the high prevalence of antibiotic resistant infections in developing countries, studies on the clinical and economic impact of antibiotic resistance (ABR) to inform interventions to contain its emergence and spread are limited. The aim of this study was to analyze the published literature on the clinical and economic implications of ABR in developing countries. Methods A systematic search was carried out in Medline via PubMed and Web of Sciences and included studies published from January 01, 2000 to December 09, 2016. All papers were considered and a quality assessment was performed using the Newcastle-Ottawa quality assessment scale (NOS). Results Of 27 033 papers identified, 40 studies met the strict inclusion and exclusion criteria and were finally included in the qualitative and quantitative analysis. Mortality was associated with resistant bacteria, and statistical significance was evident with an odds ratio (OR) 2.828 (95%CI, 2.231–3.584; p = 0.000). ESKAPE pathogens was associated with the highest risk of mortality and with high statistical significance (OR 3.217; 95%CIs; 2.395–4.321; p = 0.001). Eight studies showed that ABR, and especially antibiotic-resistant ESKAPE bacteria significantly increased health care costs. Conclusion ABR is associated with a high mortality risk and increased economic costs with ESKAPE pathogens implicated as the main cause of increased mortality. Patients with non-communicable disease co-morbidities were identified as high-risk populations. PMID:29267306

Attachment insecurity and infidelity in marriage: do studies of dating relationships really inform us about marriage?

PubMed

Russell, V Michelle; Baker, Levi R; McNulty, James K

2013-04-01

Attachment theory provides a useful framework for predicting marital infidelity. However, most research has examined the association between attachment and infidelity in unmarried individuals, and we are aware of no research that has examined the role of partner attachment in predicting infidelity. In contrast to research showing that attachment anxiety is unrelated to infidelity among dating couples, 2 longitudinal studies of 207 newlywed marriages demonstrated that own and partner attachment anxiety interacted to predict marital infidelity, such that spouses were more likely to perpetrate infidelity when either they or their partner was high (vs. low) in attachment anxiety. Further, and also in contrast to research on dating couples, own attachment avoidance was unrelated to infidelity, whereas partner attachment avoidance was negatively associated with infidelity, indicating that spouses were less likely to perpetrate infidelity when their partner was high (vs. low) in attachment avoidance. These effects emerged controlling for marital satisfaction, sexual frequency, and personality; did not differ across husbands and wives; and did not differ across the two studies, with the exception that the negative association between partner attachment avoidance and own infidelity only emerged in 1 of the 2 studies. These findings offer a more complete understanding of the implications of attachment insecurity for marital infidelity and suggest that studies of unmarried individuals may not provide complete insights into the implications of various psychological traits and processes for marriage. (PsycINFO Database Record (c) 2013 APA, all rights reserved).

Exercise and well-being: a review of mental and physical health benefits associated with physical activity.

PubMed

Penedo, Frank J; Dahn, Jason R

2005-03-01

This review highlights recent work evaluating the relationship between exercise, physical activity and physical and mental health. Both cross-sectional and longitudinal studies, as well as randomized clinical trials, are included. Special attention is given to physical conditions, including obesity, cancer, cardiovascular disease and sexual dysfunction. Furthermore, studies relating physical activity to depression and other mood states are reviewed. The studies include diverse ethnic populations, including men and women, as well as several age groups (e.g. adolescents, middle-aged and older adults). Results of the studies continue to support a growing literature suggesting that exercise, physical activity and physical-activity interventions have beneficial effects across several physical and mental-health outcomes. Generally, participants engaging in regular physical activity display more desirable health outcomes across a variety of physical conditions. Similarly, participants in randomized clinical trials of physical-activity interventions show better health outcomes, including better general and health-related quality of life, better functional capacity and better mood states. The studies have several implications for clinical practice and research. Most work suggests that exercise and physical activity are associated with better quality of life and health outcomes. Therefore, assessment and promotion of exercise and physical activity may be beneficial in achieving desired benefits across several populations. Several limitations were noted, particularly in research involving randomized clinical trials. These trials tend to involve limited sample sizes with short follow-up periods, thus limiting the clinical implications of the benefits associated with physical activity.

Self-Compassion and Relationship Maintenance: The Moderating Roles of Conscientiousness and Gender

PubMed Central

Baker, Levi; McNulty, James K.

2010-01-01

Should intimates respond to their interpersonal mistakes with self-criticism or with self-compassion? Although it is reasonable to expect self-compassion to benefit relationships by promoting self-esteem, it is also reasonable to expect self-compassion to hurt relationships by removing intimates’ motivation to correct their interpersonal mistakes. Two correlational studies, 1 experiment, and 1 longitudinal study demonstrated that whether self-compassion helps or hurts relationships depends on the presence versus absence of dispositional sources of the motivation to correct interpersonal mistakes. Among men, the implications of self-compassion were moderated by conscientiousness. Among men high in conscientiousness, self-compassion was associated with greater motivation to correct interpersonal mistakes (Studies 1 and 3), observations of more-constructive problem-solving behaviors (Study 2), reports of more accommodation (Study 3), and fewer declines in marital satisfaction that were mediated by decreases in interpersonal problem severity (Study 4); among men low in conscientiousness, self-compassion was associated with these outcomes in the opposite direction. Among women, in contrast, likely because women are inherently more motivated than men to preserve their relationships for cultural and/or biological reasons, self-compassion was never harmful to the relationship. Instead, women’s self-compassion was positively associated with the motivation to correct their interpersonal mistakes (Study 1) and changes in relationship satisfaction (Study 4), regardless of conscientiousness. Accordingly, theoretical descriptions of the implications of self-promoting thoughts for relationships may be most complete to the extent that they consider the presence versus absence of other sources of the motivation to correct interpersonal mistakes. PMID:21280964

Self-compassion and relationship maintenance: the moderating roles of conscientiousness and gender.

PubMed

Baker, Levi R; McNulty, James K

2011-05-01

Should intimates respond to their interpersonal mistakes with self-criticism or with self-compassion? Although it is reasonable to expect self-compassion to benefit relationships by promoting self-esteem, it is also reasonable to expect self-compassion to hurt relationships by removing intimates' motivation to correct their interpersonal mistakes. Two correlational studies, 1 experiment, and 1 longitudinal study demonstrated that whether self-compassion helps or hurts relationships depends on the presence versus absence of dispositional sources of the motivation to correct interpersonal mistakes. Among men, the implications of self-compassion were moderated by conscientiousness. Among men high in conscientiousness, self-compassion was associated with greater motivation to correct interpersonal mistakes (Studies 1 and 3), observations of more constructive problem-solving behaviors (Study 2), reports of more accommodation (Study 3), and fewer declines in marital satisfaction that were mediated by decreases in interpersonal problem severity (Study 4); among men low in conscientiousness, self-compassion was associated with these outcomes in the opposite direction. Among women, in contrast, likely because women are inherently more motivated than men to preserve their relationships for cultural and/or biological reasons, self-compassion was never harmful to the relationship. Instead, women's self-compassion was positively associated with the motivation to correct their interpersonal mistakes (Study 1) and changes in relationship satisfaction (Study 4), regardless of conscientiousness. Accordingly, theoretical descriptions of the implications of self-promoting thoughts for relationships may be most complete to the extent that they consider the presence versus absence of other sources of the motivation to correct interpersonal mistakes. (c) 2011 APA, all rights reserved.

A network of amygdala connections predict individual differences in trait anxiety.

PubMed

Greening, Steven G; Mitchell, Derek G V

2015-12-01

In this study we demonstrate that the pattern of an amygdala-centric network contributes to individual differences in trait anxiety. Individual differences in trait anxiety were predicted using maximum likelihood estimates of amygdala structural connectivity to multiple brain targets derived from diffusion-tensor imaging (DTI) and probabilistic tractography on 72 participants. The prediction was performed using a stratified sixfold cross validation procedure using a regularized least square regression model. The analysis revealed a reliable network of regions predicting individual differences in trait anxiety. Higher trait anxiety was associated with stronger connections between the amygdala and dorsal anterior cingulate cortex, an area implicated in the generation of emotional reactions, and inferior temporal gyrus and paracentral lobule, areas associated with perceptual and sensory processing. In contrast, higher trait anxiety was associated with weaker connections between amygdala and regions implicated in extinction learning such as medial orbitofrontal cortex, and memory encoding and environmental context recognition, including posterior cingulate cortex and parahippocampal gyrus. Thus, trait anxiety is not only associated with reduced amygdala connectivity with prefrontal areas associated with emotion modulation, but also enhanced connectivity with sensory areas. This work provides novel anatomical insight into potential mechanisms behind information processing biases observed in disorders of emotion. © 2015 Wiley Periodicals, Inc.

Psychopathy and interests: Implications of psychopathic personality traits for vocational and avocational preferences.

PubMed

Nagel, Madeline G; Watts, Ashley L; Murphy, Brett A; Lilienfeld, Scott O

2018-06-21

General personality traits and interests, both vocational and avocational, have long been considered intertwined constructs. Nevertheless, the linkages between personality disorder features, such as psychopathy, and interests are poorly understood. This study bridges this gap by examining how psychopathic traits relate to vocational and avocational interests, and to what extent these associations are distinctive to psychopathy as opposed to a broader pattern of general and abnormal personality traits. In a sample of 426 community participants, Psychopathic Personality Inventory-Revised Fearless Dominance features of psychopathy were associated with interest in a broad swath of vocational and avocational interests, whereas Self-Centered Impulsivity features were associated with realistic, artistic, enterprising, and conventional interests; most zero-order associations were in the small to medium range. Coldheartedness and the factors derived from the Levenson Self-Report Psychopathy Scale were largely unrelated to interests, although there were several notable exceptions. Narcissistic traits, as well as HEXACO (Honesty-Humility, Emotionality, Extraversion, Agreeableness, Conscientiousness, and Openness) Honesty-Humility, Extraversion, and Openness to Experience, were also related broadly to interests. The patterns of interests associated with personality disorder traits may ultimately bear practical implications for interventions as individuals seek out positions or hobbies that suit their traits. (PsycINFO Database Record (c) 2018 APA, all rights reserved).

Is job performance independent from career success? A conceptual distinction between competence and agency.

PubMed

Mollaret, Patrick; Miraucourt, Delphine

2016-12-01

Adopting a social approach to social judgment, we conducted five studies to validate a conceptual distinction between agency and competence traits. Studies 1-3 revealed that competence traits (e.g., skillful) are associated with job performance, whereas agentic traits (e.g., ambitious) are associated with career success. Study 4 showed that only agency predicted the amount of money people are likely to earn: the more a given trait was considered as agentic, the more it was associated with high monetary values. Study 5 highlighted the predominance of agency traits over competence traits in the evaluation of an employee applying for a promotion. Nevertheless, participants asserted that competence was the main criterion they used to judge the applicant. Implications of the conceptual distinction between agency and competence for social cognition are discussed. © 2016 Scandinavian Psychological Associations and John Wiley & Sons Ltd.

Self-reported attachment patterns and Rorschach-related scores of ego boundary, defensive processes, and thinking disorders.

PubMed

Berant, Ety; Wald, Yaarit

2009-07-01

In this study, we addressed associations between self-reported attachment scales (anxiety and avoidance) and Rorschach (1921/1942) indexes indicating ego-boundary perception (barrier and penetration), use of projective identification, devaluation and splitting defenses, and Comprehensive System (Exner, 2005) scores that represent boundary blurring (incongruous and fabulized combinations). In this study, we extended the sample and findings described by Berant, Mikulincer, Shaver, and Segal (2005) using a nonclinical sample of 89 Israeli adults. We found significant associations between attachment orientations and Rorschach indexes dynamically related to anxiety. We also found a trend toward association between attachment orientation and avoidance. We discuss the theoretical and clinical implications of these findings.

Genetic Overlap Between Schizophrenia and Volumes of Hippocampus, Putamen, and Intracranial Volume Indicates Shared Molecular Genetic Mechanisms.

PubMed

Smeland, Olav B; Wang, Yunpeng; Frei, Oleksandr; Li, Wen; Hibar, Derrek P; Franke, Barbara; Bettella, Francesco; Witoelar, Aree; Djurovic, Srdjan; Chen, Chi-Hua; Thompson, Paul M; Dale, Anders M; Andreassen, Ole A

2018-06-06

Schizophrenia (SCZ) is associated with differences in subcortical brain volumes and intracranial volume (ICV). However, little is known about the underlying etiology of these brain alterations. Here, we explored whether brain structure volumes and SCZ share genetic risk factors. Using conditional false discovery rate (FDR) analysis, we integrated genome-wide association study (GWAS) data on SCZ (n = 82315) and GWAS data on 7 subcortical brain volumes and ICV (n = 11840). By conditioning the FDR on overlapping associations, this statistical approach increases power to discover genetic loci. To assess the credibility of our approach, we studied the identified loci in larger GWAS samples on ICV (n = 26577) and hippocampal volume (n = 26814). We observed polygenic overlap between SCZ and volumes of hippocampus, putamen, and ICV. Based on conjunctional FDR < 0.05, we identified 2 loci shared between SCZ and ICV implicating genes FOXO3 (rs10457180) and ITIH4 (rs4687658), 2 loci shared between SCZ and hippocampal volume implicating SLC4A10 (rs4664442) and SPATS2L (rs1653290), and 2 loci shared between SCZ and volume of putamen implicating DCC (rs4632195) and DLG2 (rs11233632). The loci shared between SCZ and hippocampal volume or ICV had not reached significance in the primary GWAS on brain phenotypes. Proving our point of increased power, 2 loci did reach genome-wide significance with ICV (rs10457180) and hippocampal volume (rs4664442) in the larger GWAS. Three of the 6 identified loci are novel for SCZ. Altogether, the findings provide new insights into the relationship between SCZ and brain structure volumes, suggesting that their genetic architectures are not independent.

A molecule-based genetic association approach implicates a range of voltage-gated calcium channels associated with schizophrenia.

PubMed

Li, Wen; Fan, Chun Chieh; Mäki-Marttunen, Tuomo; Thompson, Wesley K; Schork, Andrew J; Bettella, Francesco; Djurovic, Srdjan; Dale, Anders M; Andreassen, Ole A; Wang, Yunpeng

2018-06-01

Traditional genome-wide association studies (GWAS) have successfully detected genetic variants associated with schizophrenia. However, only a small fraction of heritability can be explained. Gene-set/pathway-based methods can overcome limitations arising from single nucleotide polymorphism (SNP)-based analysis, but most of them place constraints on size which may exclude highly specific and functional sets, like macromolecules. Voltage-gated calcium (Ca v ) channels, belonging to macromolecules, are composed of several subunits whose encoding genes are located far away or even on different chromosomes. We combined information about such molecules with GWAS data to investigate how functional channels associated with schizophrenia. We defined a biologically meaningful SNP-set based on channel structure and performed an association study by using a validated method: SNP-set (sequence) kernel association test. We identified eight subtypes of Ca v channels significantly associated with schizophrenia from a subsample of published data (N = 56,605), including the L-type channels (Ca v 1.1, Ca v 1.2, Ca v 1.3), P-/Q-type Ca v 2.1, N-type Ca v 2.2, R-type Ca v 2.3, T-type Ca v 3.1, and Ca v 3.3. Only genes from Ca v 1.2 and Ca v 3.3 have been implicated by the largest GWAS (N = 82,315). Each subtype of Ca v channels showed relatively high chip heritability, proportional to the size of its constituent gene regions. The results suggest that abnormalities of Ca v channels may play an important role in the pathophysiology of schizophrenia and these channels may represent appropriate drug targets for therapeutics. Analyzing subunit-encoding genes of a macromolecule in aggregate is a complementary way to identify more genetic variants of polygenic diseases. This study offers the potential of power for discovery the biological mechanisms of schizophrenia. © 2018 Wiley Periodicals, Inc.

Topology of genetic associations between regional gray matter volume and intellectual ability: Evidence for a high capacity network.

PubMed

Bohlken, Marc M; Brouwer, Rachel M; Mandl, René C W; Hedman, Anna M; van den Heuvel, Martijn P; van Haren, Neeltje E M; Kahn, René S; Hulshoff Pol, Hilleke E

2016-01-01

Intelligence is associated with a network of distributed gray matter areas including the frontal and parietal higher association cortices and primary processing areas of the temporal and occipital lobes. Efficient information transfer between gray matter regions implicated in intelligence is thought to be critical for this trait to emerge. Genetic factors implicated in intelligence and gray matter may promote a high capacity for information transfer. Whether these genetic factors act globally or on local gray matter areas separately is not known. Brain maps of phenotypic and genetic associations between gray matter volume and intelligence were made using structural equation modeling of 3T MRI T1-weighted scans acquired in 167 adult twins of the newly acquired U-TWIN cohort. Subsequently, structural connectivity analyses (DTI) were performed to test the hypothesis that gray matter regions associated with intellectual ability form a densely connected core. Gray matter regions associated with intellectual ability were situated in the right prefrontal, bilateral temporal, bilateral parietal, right occipital and subcortical regions. Regions implicated in intelligence had high structural connectivity density compared to 10,000 reference networks (p=0.031). The genetic association with intelligence was for 39% explained by a genetic source unique to these regions (independent of total brain volume), this source specifically implicated the right supramarginal gyrus. Using a twin design, we show that intelligence is genetically represented in a spatially distributed and densely connected network of gray matter regions providing a high capacity infrastructure. Although genes for intelligence have overlap with those for total brain volume, we present evidence that there are genes for intelligence that act specifically on the subset of brain areas that form an efficient brain network. Copyright © 2015 Elsevier Inc. All rights reserved.

Associations between perceived social environment and neighborhood safety: Health implications.

PubMed

De Jesus, Maria; Puleo, Elaine; Shelton, Rachel C; Emmons, Karen M

2010-09-01

This study examined the associations between social networks, social support, social cohesion, and perceived neighborhood safety among an ethnically diverse sample of 1352 residents living in 12 low-income public housing sites in Boston, Massachusetts. For males and females, social cohesion was associated with perceived safety. For males, a smaller social network was associated with greater feelings of safety. Social support was not a significant predictor of perceived safety. The findings reported here are useful in exploring a potential pathway through which social environmental factors influence health and in untangling the complex set of variables that may influence perceived safety. Copyright 2010 Elsevier Ltd. All rights reserved.

Big Five personality and health in adults with and without cancer.

PubMed

Rochefort, Catherine; Hoerger, Michael; Turiano, Nicholas A; Duberstein, Paul

2018-01-01

Personality is associated with health, but examinations in patients with illnesses are lacking. We aimed to determine whether personality-physical health associations differed between community and cancer samples. This cross-sectional study involved 168 participants without cancer, 212 men with prostate cancer, and 55 women with breast cancer. We examined whether the Big Five personality dimensions were associated with health behaviors and multiple health indicators. Higher conscientiousness and lower neuroticism were associated with better health behaviors and health ( r max  = .31), with few differences between community and cancer samples. Findings call for research on the implications of personality in patients with serious illnesses.

Maternal Exposure to Childhood Abuse is Associated with Mate Selection: Implications for Autism in Offspring.

PubMed

Roberts, Andrea L; Lyall, Kristen; Weisskopf, Marc G

2017-07-01

Maternal experience of childhood abuse has been associated with offspring autism. To explore whether familial tendency towards autistic traits-presumably related to genetic predisposition-accounts for this association, we examined whether women who experienced childhood abuse were more likely to select mates with high levels of autistic traits, and whether parental autistic traits accounted for the association of maternal abuse and offspring autism in 209 autism cases and 833 controls. Maternal childhood abuse was strongly associated with high paternal autistic traits (severe abuse, OR = 3.98, 95% CI = 1.26, 8.31). Maternal and paternal autistic traits accounted for 21% of the association between maternal abuse and offspring autism. These results provide evidence that childhood abuse affects mate selection, with implications for offspring health.

Metabolic syndrome and its components after liver transplantation: incidence, prevalence, risk factors, and implications.

PubMed

Anastácio, Lucilene Rezende; Lima, Agnaldo Soares; Toulson Davisson Correia, Maria Isabel

2010-04-01

Metabolic syndrome is defined as the mutual existence of obesity, impaired fasting glucose levels, insulin resistance, hypertension, and dyslipidemia. After liver transplantation, patients typically develop these disorders, and even though there has been minimal research focused on the chronic impact of this syndrome on post-liver transplant patients, studies point to an association with major vascular events and fibrosis. The aim of the current work is to review data on the incidence, prevalence, risk factors, and implications of metabolic syndrome and its components in patients who have undergone liver transplantation. Copyright 2009 Elsevier Ltd and European Society for Clinical Nutrition and Metabolism. All rights reserved.

Life stress, glucocorticoid signaling, and the aging epigenome: Implications for aging-related diseases.

PubMed

Gassen, Nils C; Chrousos, George P; Binder, Elisabeth B; Zannas, Anthony S

2017-03-01

Life stress has been associated with accelerated cellular aging and increased risk for developing aging-related diseases; however, the underlying molecular mechanisms remain elusive. A highly relevant process that may underlie this association is epigenetic regulation. In this review, we build upon existing evidence to propose a model whereby exposure to life stress, in part via its effects on the hypothalamic-pituitary axis and the glucocorticoid signaling system, may alter the epigenetic landscape across the lifespan and, consequently, influence genomic regulation and function in ways that are conducive to the development of aging-related diseases. This model is supported by recent studies showing that life stressors and stress-related phenotypes can accelerate epigenetic aging, a measure that is based on DNA methylation prediction of chronological age and has been associated with several aging-related disease phenotypes. We discuss the implications of this model for the prevention and treatment of aging-related diseases, as well as the challenges and limitations of this line of research. Copyright © 2016 Elsevier Ltd. All rights reserved.

The Association Between Masculinity and Nonsuicidal Self-Injury.

PubMed

Green, Jonathan D; Kearns, Jaclyn C; Ledoux, Annie M; Addis, Michael E; Marx, Brian P

2018-01-01

Several known risk factors for nonsuicidal self-injury (NSSI), such as negative emotionality and deficits in emotion skills, are also associated with masculinity. Researchers and clinicians suggest that masculine norms around emotional control and self-reliance may make men more likely to engage in self-harm. Masculinity has also been implicated as a potential risk factor for suicide and other self-damaging behaviors. However, the association between masculinity and NSSI has yet to be explored. In the current study, a sample of 912 emerging adults from two universities in the Northeastern United States completed a web-based questionnaire assessing adherence to masculine norms, engagement in NSSI, and known risk factors for NSSI (demographics and number of self-injurers known). Stronger adherence to masculine norms predicted chronic NSSI (five or more episodes throughout the life span) above and beyond other known risk factors. Adherence to masculine norms was related to methods of NSSI. Clinical implications are discussed, including discussions of masculine norms in treatment settings. Future research should examine what specific masculine norms are most closely linked to NSSI and other self-damaging behaviors.

Global physician budgets as common-property resources: some implications for physicians and medical associations.

PubMed Central

Hurley, J; Card, R

1996-01-01

Since 1990 payment for physician services in the fee-for-service sector has shifted from an open-ended system to fixed global budgets. This shift has created a new economic context for practising medicine in Canada. A global cap creates a conflict between physicians' individual economic self-interest and their collective interest in constraining total billings within the capped budget. These types of incentive problems occur in managing what are known in economics as "common-property resources." Analysts studying common-property resources have documented several management principles associated with successful, long-run use of such resources in the face of these conflicting incentives. These management principles include early defining the boundaries of the common-property resource, explicitly specifying rules for using the resource, developing collective decision-making arrangements and monitoring mechanisms, and creating low-cost conflict-resolution mechanisms. The authors argue that global physician budgets can usefully be viewed as common-property-resources. They describe some of the key management principles and note some implications for physicians and the provincial and territorial medical associations as they adapt to global budgets. PMID:8612251

Neurosurgical implications of Carney complex.

PubMed

Watson, J C; Stratakis, C A; Bryant-Greenwood, P K; Koch, C A; Kirschner, L S; Nguyen, T; Carney, J A; Oldfield, E H

2000-03-01

The authors present their neurosurgical experience with Carney complex. Carney complex, characterized by spotty skin pigmentation, cardiac myxomas, primary pigmented nodular adrenocortical disease, pituitary tumors, and nerve sheath tumors (NSTs), is a recently described, rare, autosomal-dominant familial syndrome that is relatively unknown to neurosurgeons. Neurosurgery is required to treat pituitary adenomas and a rare NST, the psammomatous melanotic schwannoma (PMS), in patients with Carney complex. Cushing's syndrome, a common component of the complex, is caused by primary pigmented nodular adrenocortical disease and is not secondary to an adrenocorticotropic hormone-secreting pituitary adenoma. The authors reviewed 14 cases of Carney complex, five from the literature and nine from their own experience. Of the 14 pituitary adenomas recognized in association with Carney complex, 12 developed growth hormone (GH) hypersecretion (producing gigantism in two patients and acromegaly in 10), and results of immunohistochemical studies in one of the other two were positive for GH. The association of PMSs with Carney complex was established in 1990. Of the reported tumors, 28% were associated with spinal nerve sheaths. The spinal tumors occurred in adults (mean age 32 years, range 18-49 years) who presented with pain and radiculopathy. These NSTs may be malignant (10%) and, as with the cardiac myxomas, are associated with significant rates of morbidity and mortality. Because of the surgical comorbidity associated with cardiac myxoma and/or Cushing's syndrome, recognition of Carney complex has important implications for perisurgical patient management and family screening. Study of the genetics of Carney complex and of the biological abnormalities associated with the tumors may provide insight into the general pathobiological abnormalities associated with the tumors may provide insight into the general pathobiological features of pituitary adenomas and NSTs.

No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing

PubMed Central

Easton, Douglas F; Lesueur, Fabienne; Decker, Brennan; Michailidou, Kyriaki; Li, Jun; Allen, Jamie; Luccarini, Craig; Pooley, Karen A; Shah, Mitul; Bolla, Manjeet K; Wang, Qin; Dennis, Joe; Ahmad, Jamil; Thompson, Ella R; Damiola, Francesca; Pertesi, Maroulio; Voegele, Catherine; Mebirouk, Noura; Robinot, Nivonirina; Durand, Geoffroy; Forey, Nathalie; Luben, Robert N; Ahmed, Shahana; Aittomäki, Kristiina; Anton-Culver, Hoda; Arndt, Volker; Baynes, Caroline; Beckman, Matthias W; Benitez, Javier; Van Den Berg, David; Blot, William J; Bogdanova, Natalia V; Bojesen, Stig E; Brenner, Hermann; Chang-Claude, Jenny; Chia, Kee Seng; Choi, Ji-Yeob; Conroy, Don M; Cox, Angela; Cross, Simon S; Czene, Kamila; Darabi, Hatef; Devilee, Peter; Eriksson, Mikael; Fasching, Peter A; Figueroa, Jonine; Flyger, Henrik; Fostira, Florentia; García-Closas, Montserrat; Giles, Graham G; Glendon, Gord; González-Neira, Anna; Guénel, Pascal; Haiman, Christopher A; Hall, Per; Hart, Steven N; Hartman, Mikael; Hooning, Maartje J; Hsiung, Chia-Ni; Ito, Hidemi; Jakubowska, Anna; James, Paul A; John, Esther M; Johnson, Nichola; Jones, Michael; Kabisch, Maria; Kang, Daehee; Kosma, Veli-Matti; Kristensen, Vessela; Lambrechts, Diether; Li, Na; Lindblom, Annika; Long, Jirong; Lophatananon, Artitaya; Lubinski, Jan; Mannermaa, Arto; Manoukian, Siranoush; Margolin, Sara; Matsuo, Keitaro; Meindl, Alfons; Mitchell, Gillian; Muir, Kenneth; Nevelsteen, Ines; van den Ouweland, Ans; Peterlongo, Paolo; Phuah, Sze Yee; Pylkäs, Katri; Rowley, Simone M; Sangrajrang, Suleeporn; Schmutzler, Rita K; Shen, Chen-Yang; Shu, Xiao-Ou; Southey, Melissa C; Surowy, Harald; Swerdlow, Anthony; Teo, Soo H; Tollenaar, Rob A E M; Tomlinson, Ian; Torres, Diana; Truong, Thérèse; Vachon, Celine; Verhoef, Senno; Wong-Brown, Michelle; Zheng, Wei; Zheng, Ying; Nevanlinna, Heli; Scott, Rodney J; Andrulis, Irene L; Wu, Anna H; Hopper, John L; Couch, Fergus J; Winqvist, Robert; Burwinkel, Barbara; Sawyer, Elinor J; Schmidt, Marjanka K; Rudolph, Anja; Dörk, Thilo; Brauch, Hiltrud; Hamann, Ute; Neuhausen, Susan L; Milne, Roger L; Fletcher, Olivia; Pharoah, Paul D P; Campbell, Ian G; Dunning, Alison M; Le Calvez-Kelm, Florence; Goldgar, David E; Tavtigian, Sean V; Chenevix-Trench, Georgia

2016-01-01

Background BRCA1 interacting protein C-terminal helicase 1 (BRIP1) is one of the Fanconi Anaemia Complementation (FANC) group family of DNA repair proteins. Biallelic mutations in BRIP1 are responsible for FANC group J, and previous studies have also suggested that rare protein truncating variants in BRIP1 are associated with an increased risk of breast cancer. These studies have led to inclusion of BRIP1 on targeted sequencing panels for breast cancer risk prediction. Methods We evaluated a truncating variant, p.Arg798Ter (rs137852986), and 10 missense variants of BRIP1, in 48 144 cases and 43 607 controls of European origin, drawn from 41 studies participating in the Breast Cancer Association Consortium (BCAC). Additionally, we sequenced the coding regions of BRIP1 in 13 213 cases and 5242 controls from the UK, 1313 cases and 1123 controls from three population-based studies as part of the Breast Cancer Family Registry, and 1853 familial cases and 2001 controls from Australia. Results The rare truncating allele of rs137852986 was observed in 23 cases and 18 controls in Europeans in BCAC (OR 1.09, 95% CI 0.58 to 2.03, p=0.79). Truncating variants were found in the sequencing studies in 34 cases (0.21%) and 19 controls (0.23%) (combined OR 0.90, 95% CI 0.48 to 1.70, p=0.75). Conclusions These results suggest that truncating variants in BRIP1, and in particular p.Arg798Ter, are not associated with a substantial increase in breast cancer risk. Such observations have important implications for the reporting of results from breast cancer screening panels. PMID:26921362

The negative and positive self: a longitudinal study examining self-esteem, paranoia and negative symptoms in individuals with first-episode psychosis.

PubMed

Palmier-Claus, Jasper; Dunn, Graham; Drake, Richard; Lewis, Shôn

2011-05-01

Self-esteem has been implicated in the development of psychotic phenomena, especially paranoia. Recent findings suggest that it may be useful to assess the instability of self-esteem instead of the mean score. We examined this construct as two separate factors: positive beliefs about the self (PBS) and negative beliefs about the self (NBS). Theoretical models have implicated NBS in the development of paranoia, whereas research studies have sometimes found an association between PBS and negative symptoms. The first aim of this study was to investigate associations between change in PBS and NBS, and subsequent change in paranoia and negative symptoms. The second aim was to examine whether fluctuations in PBS and NBS predicted mean paranoia levels. Data from a large sample of individuals with first-episode psychosis (n = 256) assessed at baseline, 6 weeks, 3 months and 18 months was analysed. The data suggest that changes in both PBS and NBS in the early stages of disorder are related to change in negative symptoms, but not paranoia. PBS variability and NBS mean scores significantly predicted average paranoia levels when taken from across all four time points, suggesting potential differences in the associations with psychosis of these two constructs. Self-esteem boosting interventions administered in the first 6 weeks after admission to healthcare services may improve the subsequent course of negative symptoms.

Implications for patient safety in the use of safe patient handling equipment: a national survey.

PubMed

Elnitsky, Christine A; Lind, Jason D; Rugs, Deborah; Powell-Cope, Gail

2014-12-01

The prevalence of musculoskeletal injuries among nursing staff has been high due to patient handling and movement. Internationally, healthcare organizations are integrating technological equipment into patient handling and movement to improve safety. Although evidence shows that safe patient handling programs reduce work-related musculoskeletal injuries in nursing staff, it is not clear how safe these new programs are for patients. The objective of this study was to explore adverse patient events associated with safe patient handling programs and preventive approaches in US Veterans Affairs medical centers. The study surveyed a convenience sample of safe patient handling program managers from 51 US Department of Veterans Affairs medical centers to collect data on skin-related and fall-related adverse patient events. Both skin- and fall-related adverse patient events associated with safe patient handling occurred at VA Medical centers. Skin-related events included abrasions, contusions, pressure ulcers and lacerations. Fall-related events included sprains and strains, fractures, concussions and bleeding. Program managers described contextual factors in these adverse events and ways of preventing the events. The use of safe patient handling equipment can pose risks for patients. This study found that organizational factors, human factors and technology factors were associated with patient adverse events. The findings have implications for how nursing professionals can implement safe patient handling programs in ways that are safe for both staff and patients. Published by Elsevier Ltd.

Further Studies on the Prevalence of Isolated Sleep Paralysis in Black Subjects

PubMed Central

Bell, Carl C.; Dixie-Bell, Dora D.; Thompson, Belinda

1986-01-01

In a previous study, one of the authors (C.C.B.) found isolated sleep paralysis was common in blacks. In this study, conducted by interviews, a recurrent pattern (one or more episodes per month) of isolated sleep paralysis episodes in blacks was described by at least 25 percent of the afflicted sample studied. Frequent episodes were associated with stress, and subjects with isolated sleep paralysis had an unusually high prevalence of panic disorder (15.5 percent). The genetic transmission of sleep paralysis was studied in a large black family, and in addition to stressful environmental factors being associated with the condition, there appears to be a dominant genetic factor associated with the predisposition for developing sleep paralysis. The implications of these findings for stress, anxiety, sleep, and psychophysiologic disorders are discussed. PMID:3746934

Peers’ Perceptions of Gender Nonconformity: Associations with Overt and Relational Peer Victimization and Aggression in Early Adolescence

PubMed Central

Card, Noel A.; Casper, Deborah M.

2015-01-01

The current study used reports from 318 early adolescents to examine the associations of peer-reported gender nonconformity with peer- and self-reported overt and relational victimization and aggression and possible sex differences in these associations. Multiple-group structural equation modeling revealed that higher levels of peer-reported gender nonconformity were associated with higher self- and peer-reports of overt and relational victimization and aggression among males and females. The association between peer-reported gender nonconformity and peer-reported overt aggression was moderated by participant sex, such that the association was stronger for females compared to males. Results suggest that perceived gender nonconformity is associated with problematic peer relations, especially among females, in early adolescence and implications of these associations are discussed. PMID:26236066

A review of research trends in physiological abnormalities in autism spectrum disorders: immune dysregulation, inflammation, oxidative stress, mitochondrial dysfunction and environmental toxicant exposures

PubMed Central

Rossignol, D A; Frye, R E

2012-01-01

Recent studies have implicated physiological and metabolic abnormalities in autism spectrum disorders (ASD) and other psychiatric disorders, particularly immune dysregulation or inflammation, oxidative stress, mitochondrial dysfunction and environmental toxicant exposures (‘four major areas'). The aim of this study was to determine trends in the literature on these topics with respect to ASD. A comprehensive literature search from 1971 to 2010 was performed in these four major areas in ASD with three objectives. First, publications were divided by several criteria, including whether or not they implicated an association between the physiological abnormality and ASD. A large percentage of publications implicated an association between ASD and immune dysregulation/inflammation (416 out of 437 publications, 95%), oxidative stress (all 115), mitochondrial dysfunction (145 of 153, 95%) and toxicant exposures (170 of 190, 89%). Second, the strength of evidence for publications in each area was computed using a validated scale. The strongest evidence was for immune dysregulation/inflammation and oxidative stress, followed by toxicant exposures and mitochondrial dysfunction. In all areas, at least 45% of the publications were rated as providing strong evidence for an association between the physiological abnormalities and ASD. Third, the time trends in the four major areas were compared with trends in neuroimaging, neuropathology, theory of mind and genetics (‘four comparison areas'). The number of publications per 5-year block in all eight areas was calculated in order to identify significant changes in trends. Prior to 1986, only 12 publications were identified in the four major areas and 51 in the four comparison areas (42 for genetics). For each 5-year period, the total number of publications in the eight combined areas increased progressively. Most publications (552 of 895, 62%) in the four major areas were published in the last 5 years (2006–2010). Evaluation of trends between the four major areas and the four comparison areas demonstrated that the largest relative growth was in immune dysregulation/inflammation, oxidative stress, toxicant exposures, genetics and neuroimaging. Research on mitochondrial dysfunction started growing in the last 5 years. Theory of mind and neuropathology research has declined in recent years. Although most publications implicated an association between the four major areas and ASD, publication bias may have led to an overestimation of this association. Further research into these physiological areas may provide insight into general or subset-specific processes that could contribute to the development of ASD and other psychiatric disorders. PMID:22143005

Systematics of Aedes Mosquito Project

DTIC Science & Technology

1991-03-27

African species of stegmyia have been implicated as natural hosts, vectors, and/or reservoirs of 8 viruses , 6 of which cause human illness (Chikingunya...dengue 1 and 2, Duige, Rift Valley Fever, yellow fever and Zika ). Chikungunya, dengue and yellow fever are the most important arboviruses associated...accurately identify specimens of vector species for mosquito survey, virus -isolation studies and epidemiological studies. 3 This paper is part of a revision

Meta-analysis of California Spotted Owl (Strix occidentalis occidentalis) territory occupancy in the Sierra Nevada: habitat associations and their implications for forest management

Treesearch

Douglas J. Tempel; John J. Keane; R. J. Gutierrez; Jared D. Wolfe; Gavin M. Jones; Alexander Koltunov; Carlos M. Ramirez; William J. Berigan; Claire V. Gallagher; Thomas E. Munton; Paula A. Shaklee; Sheila A. Whitmore; M. Zachariah Peery

2016-01-01

We assessed the occupancy dynamics of 275 California Spotted Owl (Strix occidentalis occidentalis) territories in 4 study areas in the Sierra Nevada, California, USA, from 1993 to 2011. We used Landsat data to develop maps of canopy cover for each study area, which we then used to quantify annual territory-specific habitat...

Genome-wide common and rare variant analysis provides novel insights into clozapine-associated neutropenia.

PubMed

Legge, S E; Hamshere, M L; Ripke, S; Pardinas, A F; Goldstein, J I; Rees, E; Richards, A L; Leonenko, G; Jorskog, L F; Chambert, K D; Collier, D A; Genovese, G; Giegling, I; Holmans, P; Jonasdottir, A; Kirov, G; McCarroll, S A; MacCabe, J H; Mantripragada, K; Moran, J L; Neale, B M; Stefansson, H; Rujescu, D; Daly, M J; Sullivan, P F; Owen, M J; O'Donovan, M C; Walters, J T R

2017-10-01

The antipsychotic clozapine is uniquely effective in the management of schizophrenia; however, its use is limited by its potential to induce agranulocytosis. The causes of this, and of its precursor neutropenia, are largely unknown, although genetic factors have an important role. We sought risk alleles for clozapine-associated neutropenia in a sample of 66 cases and 5583 clozapine-treated controls, through a genome-wide association study (GWAS), imputed human leukocyte antigen (HLA) alleles, exome array and copy-number variation (CNV) analyses. We then combined associated variants in a meta-analysis with data from the Clozapine-Induced Agranulocytosis Consortium (up to 163 cases and 7970 controls). In the largest combined sample to date, we identified a novel association with rs149104283 (odds ratio (OR)=4.32, P=1.79 × 10 -8 ), intronic to transcripts of SLCO1B3 and SLCO1B7, members of a family of hepatic transporter genes previously implicated in adverse drug reactions including simvastatin-induced myopathy and docetaxel-induced neutropenia. Exome array analysis identified gene-wide associations of uncommon non-synonymous variants within UBAP2 and STARD9. We additionally provide independent replication of a previously identified variant in HLA-DQB1 (OR=15.6, P=0.015, positive predictive value=35.1%). These results implicate biological pathways through which clozapine may act to cause this serious adverse effect.

Genome-wide common and rare variant analysis provides novel insights into clozapine-associated neutropenia

PubMed Central

Legge, S E; Hamshere, M L; Ripke, S; Pardinas, A F; Goldstein, J I; Rees, E; Richards, A L; Leonenko, G; Jorskog, L F; Goldstein, Jacqueline I; Jarskog, L Fredrik; Hilliard, Chris; Alfirevic, Ana; Duncan, Laramie; Fourches, Denis; Huang, Hailiang; Lek, Monkol; Neale, Benjamin M; Ripke, Stephan; Shianna, Kevin; Szatkiewicz, Jin P; Tropsha, Alexander; van den Oord, Edwin JCG; Cascorbi, Ingolf; Dettling, Michael; Gazit, Ephraim; Goff, Donald C; Holden, Arthur L; Kelly, Deanna L; Malhotra, Anil K; Nielsen, Jimmi; Pirmohamed, Munir; Rujescu, Dan; Werge, Thomas; Levy, Deborah L; Josiassen, Richard C; Kennedy, James L; Lieberman, Jeffrey A; Daly, Mark J; Sullivan, Patrick F; Chambert, K D; Collier, D A; Genovese, G; Giegling, I; Holmans, P; Jonasdottir, A; Kirov, G; McCarroll, S A; MacCabe, J H; Mantripragada, K; Moran, J L; Neale, B M; Stefansson, H; Rujescu, D; Daly, M J; Sullivan, P F; Owen, M J; O'Donovan, M C; Walters, J T R

2017-01-01

The antipsychotic clozapine is uniquely effective in the management of schizophrenia; however, its use is limited by its potential to induce agranulocytosis. The causes of this, and of its precursor neutropenia, are largely unknown, although genetic factors have an important role. We sought risk alleles for clozapine-associated neutropenia in a sample of 66 cases and 5583 clozapine-treated controls, through a genome-wide association study (GWAS), imputed human leukocyte antigen (HLA) alleles, exome array and copy-number variation (CNV) analyses. We then combined associated variants in a meta-analysis with data from the Clozapine-Induced Agranulocytosis Consortium (up to 163 cases and 7970 controls). In the largest combined sample to date, we identified a novel association with rs149104283 (odds ratio (OR)=4.32, P=1.79 × 10−8), intronic to transcripts of SLCO1B3 and SLCO1B7, members of a family of hepatic transporter genes previously implicated in adverse drug reactions including simvastatin-induced myopathy and docetaxel-induced neutropenia. Exome array analysis identified gene-wide associations of uncommon non-synonymous variants within UBAP2 and STARD9. We additionally provide independent replication of a previously identified variant in HLA-DQB1 (OR=15.6, P=0.015, positive predictive value=35.1%). These results implicate biological pathways through which clozapine may act to cause this serious adverse effect. PMID:27400856

Revisiting the Stanford prison experiment: could participant self-selection have led to the cruelty?

PubMed

Carnahan, Thomas; McFarland, Sam

2007-05-01

The authors investigated whether students who selectively volunteer for a study of prison life possess dispositions associated with behaving abusively. Students were recruited for a psychological study of prison life using a virtually identical newspaper ad as used in the Stanford Prison Experiment (SPE; Haney, Banks & Zimbardo, 1973) or for a psychological study, an identical ad minus the words of prison life. Volunteers for the prison study scored significantly higher on measures of the abuse-related dispositions of aggressiveness, authoritarianism, Machiavellianism, narcissism, and social dominance and lower on empathy and altruism, two qualities inversely related to aggressive abuse. Although implications for the SPE remain a matter of conjecture, an interpretation in terms of person-situation interactionism rather than a strict situationist account is indicated by these findings. Implications for interpreting the abusiveness of American military guards at Abu Ghraib Prison also are discussed.

The AACC Competencies and the PhD Completion Project: Practical Implications

ERIC Educational Resources Information Center

Sinady, Chantal; Floyd, Deborah L.; Mulder, Anne E.

2010-01-01

The American Association of Community Colleges (AACC) has identified a set of six competencies essential to effective community college leadership. Studies have been conducted to test the validity and usefulness of these competencies in such ways as by surveying community college professionals and to examine the effectiveness of graduate programs…

Sources of Bias in the Goodman-Kruskal Gamma Coefficient Measure of Association: Implications for Studies of Metacognitive Processes

ERIC Educational Resources Information Center

Masson, Michael E. J.; Rotello, Caren M.

2009-01-01

In many cognitive, metacognitive, and perceptual tasks, measurement of performance or prediction accuracy may be influenced by response bias. Signal detection theory provides a means of assessing discrimination accuracy independent of such bias, but its application crucially depends on distributional assumptions. The Goodman-Kruskal gamma…

Large area comparisons of forest management practices in West Virginia (1951-present)

Treesearch

Thomas M. Schuler; W. Mark Ford; Mary Beth Adams; James N. Kochenderfer; Pamela J. Edwards

2006-01-01

Changes in species composition and possible associated changes in forest productivity after timber harvesting have important implications with respect to forest management options for landowners and for regional wood using industries. To better understand partial harvesting and its impacts, a study employing three different partial cutting practices, with monitoring of...

Wildlife associated with scoria outcrops: implications for reclamation of surface-mined lands

Treesearch

Mark A. Rumble

1989-01-01

Bird and mammal populations using scoria rock outcrop and adjacentsagebrush/grassland habitats were studied. Bird populations and bird species richness were greater in the outcrop habitats than in the surrounding sagebrush/grassland habitats. These differences were attributedto the structural features provided by the outcrops. Most, but not all, small mammal...

Which Children Receive Grandparental Care and What Effect Does It Have?

ERIC Educational Resources Information Center

Fergusson, Emma; Maughan, Barbara; Golding, Jean

2008-01-01

Background: Grandparents are increasingly involved in the care of young children, but little is known about factors associated with this type of care, or its implications for children's behavioural development. Methods: We used information collected from 8752 families in the Avon Longitudinal Study of Parents and Children (ALSPAC) on grandparent…

Nonstandard Maternal Work Schedules: Implications for African American Children's Early Language Outcomes

ERIC Educational Resources Information Center

Odom, Erika C.; Vernon-Feagans, Lynne; Crouter, Ann C.

2013-01-01

In this study, observed maternal positive engagement and perception of work-family spillover were examined as mediators of the association between maternal nonstandard work schedules and children's expressive language outcomes in 231 African American families living in rural households. Mothers reported their work schedules when their child was 24…

Humor in Pedagogy: How Ha-Ha Can Lead to Aha!

ERIC Educational Resources Information Center

Garner, R. L.

2006-01-01

Several studies have examined the pedagogical implications and cautions concerning the use of humor in teaching. Humor has been associated with a host of positive physiological and psychological effects. Researchers have identified that educators who use humor in their instruction are more positively rated by their peers and their students; others…

Ethics and Engineering. Working Papers Series Volume 2.

ERIC Educational Resources Information Center

Cutcliffe, Stephen H., Ed.

This collection of essays is the second volume in a series of working papers from Lehigh University Technology Studies Resource Center. The papers focus on the ethical implications of engineering as a profession and the current problems associated with the public responsibility of engineers. Issues that relate to the ethical dimensions of…

Developing a Pedagogy of "Making" through Collaborative Self-Study

ERIC Educational Resources Information Center

Bullock, Shawn M.; Sator, Andrea

2018-01-01

We believe that the ideas associated with the Maker Movement have profound implications for teacher education. We have isolated the pedagogical principles of hack, adapt, design, and create as central to exploring how they work with teacher candidate participants in a maker pedagogy lab. We frame these ideas as Maker Pedagogy, which is the…

Managing Institutional Research Advancement: Implications from a University Faculty Time Allocation Study

ERIC Educational Resources Information Center

Anderson, Derrick M.; Slade, Catherine P.

2016-01-01

While much is known about faculty time allocation, we know very little about how traditional managerial factors influence faculty time allocation behaviors. We know even less about the possible downsides associated with relying on these traditional managerial factors. Using survey data from the National Science Foundation/Department of Energy…

Risk Factors Linking Maternal Depressed Mood to Growth in Adolescent Substance Use

ERIC Educational Resources Information Center

Cortes, Rebecca C.; Fleming, Charles B.; Mason, W. Alex; Catalano, Richard F.

2009-01-01

Maternal depression has been implicated in the development of adolescent substance use. Conceptualizing depression as a continuum, the aims of this study are to (a) understand the relationship between maternal depressed mood and risk factors associated with adolescent substance use; (b) understand the relationship between maternal depressed mood…

Decentring Hegemonic Gender Theory: The Implications for Educational Research

ERIC Educational Resources Information Center

Fennell, Shailaja; Arnot, Madeleine

2008-01-01

The knowledge gathered and reviewed in the field of gender studies has been disseminated globally over the twentieth century but has paid relatively little regard to the contexts and meanings that have simultaneously emerged in other regions of the world. The emergence of global equality agendas in education associated with new frameworks and…

Investigating the Factors of Resiliency among Exceptional Youth Living in Rural Underserved Communities

ERIC Educational Resources Information Center

Curtin, Kevin A.; Schweitzer, Ashley; Tuxbury, Kristen; D'Aoust, Janelle A.

2016-01-01

Resilience is an important social justice concept that has important implications for educators working with exceptional youth in rural underserved communities who may suffer from the consequences associated with economic hardships. This multi-school qualitative study examined resilience among exceptional youth living in rural poverty through the…

Coping with Social Stress: Implications for Psychopathology in Young Adolescent Girls

ERIC Educational Resources Information Center

Sontag, Lisa M.; Graber, Julia A.; Brooks-Gunn, Jeanne; Warren, Michelle P.

2008-01-01

This study investigated the impact of social stress on symptoms of psychopathology at the entry into adolescence (111 girls, Mage = 11.84, SD = 0.77). We examined whether peer stress and pubertal timing were associated with internalizing distress and aggression, and whether responses to stress and cortisol reactivity mediated or moderated these…

Beliefs about Creativity: Views of Tertiary Students in Hong Kong

ERIC Educational Resources Information Center

Ho, Kwok Keung; Soh, Kay Cheng; Ho, Belinda

2006-01-01

Background: Creativity is associated with many pet beliefs, unfounded or based on limited personal experiences and observations. Aims: The intention of the present study is to take the research one step backward to look at possible antecedents of beliefs regarding creativity, as such knowledge has implications for education where creativity is…

Design Implications of Real-Time Feedback in Continuous Combinatorial Auctions: An Experimental Investigation

ERIC Educational Resources Information Center

Sanyal, Pallab

2009-01-01

Information Technology (IT) has spawned the growth of novel and innovative market mechanisms (such as online auctions) and associated businesses (such as eBay and Priceline) that were not feasible without the capabilities and reach of these modern information technologies. Previous studies on designing trading mechanisms for online markets…

The Association between Infants' Self-Regulatory Behavior and MAOA Gene Polymorphism

ERIC Educational Resources Information Center

Zhang, Minghao; Chen, Xinyin; Way, Niobe; Yoshikawa, Hirokazu; Deng, Huihua; Ke, Xiaoyan; Yu, Weiwei; Chen, Ping; He, Chuan; Chi, Xia; Lu, Zuhong

2011-01-01

Self-regulatory behavior in early childhood is an important characteristic that has considerable implications for the development of adaptive and maladaptive functioning. The present study investigated the relations between a functional polymorphism in the upstream region of monoamine oxidase A gene (MAOA) and self-regulatory behavior in a sample…

Estimation of Species Identification Error: Implications for Raptor Migration Counts and Trend Estimation

Treesearch

J.M. Hull; A.M. Fish; J.J. Keane; S.R. Mori; B.J Sacks; A.C. Hull

2010-01-01

One of the primary assumptions associated with many wildlife and population trend studies is that target species are correctly identified. This assumption may not always be valid, particularly for species similar in appearance to co-occurring species. We examined size overlap and identification error rates among Cooper's (Accipiter cooperii...

School Psychology 2010--Part 2: School Psychologists' Professional Practices and Implications for the Field

ERIC Educational Resources Information Center

Castillo, Jose M.; Curtis, Michael J.; Gelley, Cheryl

2012-01-01

Every 5 years, the National Association of School Psychologists (NASP) conducts a national study of the field. Surveys are sent to randomly selected regular members of NASP to gather information on school psychologists' demographic characteristics, context for professional practices, and professional practices. The latest iteration of the national…

The Relationship of Trauma Exposure to Sex Offending Behavior among Male Juvenile Offenders.

ERIC Educational Resources Information Center

McMackin, Robert A.; Leisen, Mary Beth; Cusack, John R.; LaFratta, Joseph; Litwin, Peter

2002-01-01

Study identifies ways that traumatic experiences and trauma-associated feelings can be offense triggers for juvenile sex offenders. Researchers interviewed the treating clinicians of 40 male juvenile sex offenders. Overall, clinicians identified prior trauma exposure as being related to the offense triggers in 85% of offenders. Implications for…

Infectivity and transmissibility of highly pathogenic avian influenza viruses in mallards

USDA-ARS?s Scientific Manuscript database

Wild aquatic birds have been associated with the intercontinental spread of H5 subtype highly pathogenic avian influenza (HPAI) viruses, but wild waterfowl have not been implicated in the spread of other HPAI viruses. In a previous study we demonstrated that many H5 and H7 HPAI viruses could infect...

Unpacking the Evidence of Gender Bias

ERIC Educational Resources Information Center

Fulmer, Connie L.

2010-01-01

The purpose of this study was to investigate gender bias in pre-service principals using the Gender-Leader Implicit Association Test. Analyses of student-learning narratives revealed how students made sense of gender bias (biased or not-biased) and how each reacted to evidence (surprised or not-surprised). Two implications were: (1) the need for…

Using State or Study-Administered Achievement Tests in Impact Evaluations

ERIC Educational Resources Information Center

Olsen, Robert B.; Unlu, Fatih; Jaciw, Andrew P.

2010-01-01

This report, which has been prepared by Abt Associates for the Institute of Education Sciences' National Center for Education Evaluation and Regional Assistance, takes an important first step in sorting out the implications of relying on state tests for general, student-level measures of reading and math achievement in evaluations of educational…

Hemicrania Continua: A Clinical Study of 39 Patients with Diagnostic Implications

ERIC Educational Resources Information Center

Cittadini, Elisabetta; Goadsby, Peter J.

2010-01-01

Hemicrania continua is an uncommon primary headache disorder, characterized by continuous unilateral pain, where pain exacerbations are associated with cranial autonomic features. The hallmark of this condition is the absolute response to indometacin. We describe the phenotype of this condition in a large series of patients. Thirty-six (92%)…

Comparison of environmental and egg microbiology associated with conventional and free range laying hen management

USDA-ARS?s Scientific Manuscript database

Eggs from alternative production practices are a growing niche in the market. Meeting consumer requests for greater diversity in retail egg options has resulted in some unique challenges such as understanding the food safety implications of eggs from alternative production practices. A study was c...

The Shifting Gender Composition of Psychology. Trends and Implications for the Discipline.

ERIC Educational Resources Information Center

Pion, Georgine M.; And Others

1996-01-01

Summarizes results from a psychology case study conducted by a subcommittee of the American Psychological Association's Task Force on the Changing Gender Composition of Psychology to examine the discipline's changing gender composition and factors related to these shifts. Societal and disciplinary trends are also examined, along with the patterns…

Wellness Factors as Predictors of Alcohol Use among Undergraduates: Implications for Prevention and Intervention

ERIC Educational Resources Information Center

Lewis, Todd F.; Myers, Jane E.

2010-01-01

A pilot study examining holistic wellness factors and drinking behaviors among undergraduate students revealed several significant relationships. Two second-order wellness factors of the Indivisible Self model of wellness--Coping Self and Essential Self--were negatively associated with both alcohol use intensity and drinking consequences.…

A Comparison of Outsourcing in Higher Education, 1998-99 and 2003-04

ERIC Educational Resources Information Center

Adams, Olin L.; Guarino, A J.; Robichaux, Rebecca R.; Edwards, Toni L.

2004-01-01

This paper explores the nature and extent of outsourcing by higher education institutions, benefits and challenges associated with outsourcing, and the implications of outsourcing for effective management. The principal investigator conducted a national study of outsourcing by four-year colleges and universities at two points in time, 1998-99 and…

Digital Technology and Caregiver Training for Older Persons: Cognitive and Affective Perspectives

ERIC Educational Resources Information Center

Zheng, Robert; Hicken, Bret L.; Hill, Robert D.; Luptak, Marilyn; Daniel, Candice M.; Grant, Marren; Rupper, Randall

2016-01-01

This research project included two studies that investigated (a) differences between technology use in tech-knowledgeable and less tech-knowledgeable older persons, (b) cognitive and affective variables and their association with the application of technology, and (c) the implications of these variables on the design of remote-delivered caregiver…

Theoretical Perspectives on Learning in an Informal Setting.

ERIC Educational Resources Information Center

Anderson, David; Lucas, Keith B.; Ginns, Ian S.

2003-01-01

Reports the findings of an interpretive case study of the knowledge transformations of three Year 7 students who had participated in a class visit to a science museum and associated post-visit activities. Discusses theoretical and practical implications of these findings for teachers and staff of museums and similar institutions. (Author/KHR)

Doomed to Read in a Second Language: Implications for Learning

ERIC Educational Resources Information Center

Miller, Paul; Peleg, Ora

2010-01-01

The aim of the study was to elucidate whether and how reliance on a second language impacts the learning of new information under very basic learning conditions. The paradigm used to investigate this issue required individuals to learn a series of associations between numerals and particular letter strings. Participants were two groups of…

Intimacy Development and Romantic Status: Implications for Adjustment to the College Transition.

ERIC Educational Resources Information Center

Paul, Elizabeth L.; Poole, Amanda; Jakubowyc, Nancy

1998-01-01

Explores the associations between romantic relationship status and intimacy development during students' (N=297) first semester of college. Examines the relationship of intimacy development to psychological well-being and discusses implications for interventions. (EMK)

The complexity of epigenetic diseases.

PubMed

Brazel, Ailbhe Jane; Vernimmen, Douglas

2016-01-01

Over the past 30 years, a plethora of pathogenic mutations affecting enhancer regions and epigenetic regulators have been identified. Coupled with more recent genome-wide association studies (GWAS) and epigenome-wide association studies (EWAS) implicating major roles for regulatory mutations in disease, it is clear that epigenetic mechanisms represent important biomarkers for disease development and perhaps even therapeutic targets. Here, we discuss the diversity of disease-causing mutations in enhancers and epigenetic regulators, with a particular focus on cancer. © 2015 The Authors. The Journal of Pathology published by John Wiley & Sons Ltd on behalf of Pathological Society of Great Britain and Ireland.

Chronic systemic pesticide exposure reproduces features of Parkinson's disease.

PubMed

Betarbet, R; Sherer, T B; MacKenzie, G; Garcia-Osuna, M; Panov, A V; Greenamyre, J T

2000-12-01

The cause of Parkinson's disease (PD) is unknown, but epidemiological studies suggest an association with pesticides and other environmental toxins, and biochemical studies implicate a systemic defect in mitochondrial complex I. We report that chronic, systemic inhibition of complex I by the lipophilic pesticide, rotenone, causes highly selective nigrostriatal dopaminergic degeneration that is associated behaviorally with hypokinesia and rigidity. Nigral neurons in rotenone-treated rats accumulate fibrillar cytoplasmic inclusions that contain ubiquitin and alpha-synuclein. These results indicate that chronic exposure to a common pesticide can reproduce the anatomical, neurochemical, behavioral and neuropathological features of PD.

Porphyromonas gingivalis and related bacteria: from colonial pigmentation to the type IX secretion system and gliding motility

PubMed Central

Nakayama, K

2015-01-01

Porphyromonas gingivalis is a gram-negative, non-motile, anaerobic bacterium implicated as a major pathogen in periodontal disease. P. gingivalis grows as black-pigmented colonies on blood agar, and many bacteriologists have shown interest in this property. Studies of colonial pigmentation have revealed a number of important findings, including an association with the highly active extracellular and surface proteinases called gingipains that are found in P. gingivalis. The Por secretion system, a novel type IX secretion system (T9SS), has been implicated in gingipain secretion in studies using non-pigmented mutants. In addition, many potent virulence proteins, including the metallocarboxypeptidase CPG70, 35 kDa hemin-binding protein HBP35, peptidylarginine deiminase PAD and Lys-specific serine endopeptidase PepK, are secreted through the T9SS. These findings have not been limited to P. gingivalis but have been extended to other bacteria belonging to the phylum Bacteroidetes. Many Bacteroidetes species possess the T9SS, which is associated with gliding motility for some of these bacteria. PMID:25546073

Epistasis and Its Implications for Personal Genetics

PubMed Central

Moore, Jason H.; Williams, Scott M.

2009-01-01

The widespread availability of high-throughput genotyping technology has opened the door to the era of personal genetics, which brings to consumers the promise of using genetic variations to predict individual susceptibility to common diseases. Despite easy access to commercial personal genetics services, our knowledge of the genetic architecture of common diseases is still very limited and has not yet fulfilled the promise of accurately predicting most people at risk. This is partly because of the complexity of the mapping relationship between genotype and phenotype that is a consequence of epistasis (gene-gene interaction) and other phenomena such as gene-environment interaction and locus heterogeneity. Unfortunately, these aspects of genetic architecture have not been addressed in most of the genetic association studies that provide the knowledge base for interpreting large-scale genetic association results. We provide here an introductory review of how epistasis can affect human health and disease and how it can be detected in population-based studies. We provide some thoughts on the implications of epistasis for personal genetics and some recommendations for improving personal genetics in light of this complexity. PMID:19733727

Epistasis and its implications for personal genetics.

PubMed

Moore, Jason H; Williams, Scott M

2009-09-01

The widespread availability of high-throughput genotyping technology has opened the door to the era of personal genetics, which brings to consumers the promise of using genetic variations to predict individual susceptibility to common diseases. Despite easy access to commercial personal genetics services, our knowledge of the genetic architecture of common diseases is still very limited and has not yet fulfilled the promise of accurately predicting most people at risk. This is partly because of the complexity of the mapping relationship between genotype and phenotype that is a consequence of epistasis (gene-gene interaction) and other phenomena such as gene-environment interaction and locus heterogeneity. Unfortunately, these aspects of genetic architecture have not been addressed in most of the genetic association studies that provide the knowledge base for interpreting large-scale genetic association results. We provide here an introductory review of how epistasis can affect human health and disease and how it can be detected in population-based studies. We provide some thoughts on the implications of epistasis for personal genetics and some recommendations for improving personal genetics in light of this complexity.

Personality and Longevity: Knowns, Unknowns, and Implications for Public Health and Personalized Medicine

PubMed Central

Chapman, Benjamin P.; Roberts, Brent; Duberstein, Paul

2011-01-01

We review evidence for links between personality traits and longevity. We provide an overview of personality for health scientists, using the primary organizing framework used in the study of personality and longevity. We then review data on various aspects of personality linked to longevity. In general, there is good evidence that higher level of conscientiousness and lower levels of hostility and Type D or “distressed” personality are associated with greater longevity. Limited evidence suggests that extraversion, openness, perceived control, and low levels of emotional suppression may be associated with longer lifespan. Findings regarding neuroticism are mixed, supporting the notion that many component(s) of neuroticism detract from life expectancy, but some components at some levels may be healthy or protective. Overall, evidence suggests various personality traits are significant predictors of longevity and points to several promising directions for further study. We conclude by discussing the implications of these links for epidemiologic research and personalized medicine and lay out a translational research agenda for integrating the psychology of individual differences into public health and medicine. PMID:21766032

A review of cognitive conflicts research: a meta-analytic study of prevalence and relation to symptoms

PubMed Central

Montesano, Adrián; López-González, María Angeles; Saúl, Luis Angel; Feixas, Guillem

2015-01-01

Recent research has highlighted the role of implicative dilemmas in a variety of clinical conditions. These dilemmas are a type of cognitive conflict, in which different aspects of the self are countered in such a way that a desired change in a personal dimension (eg, symptom improvement) may be hindered by the need of personal coherence in another dimension. The aim of this study was to summarize, using a meta-analytical approach, the evidence relating to the presence and the level of this conflict, as well as its relationship with well-being, in various clinical samples. A systematic review using multiple electronic databases found that out of 37 articles assessed for eligibility, nine fulfilled the inclusion criteria for meta-analysis. Random effects model was applied when computing mean effect sizes and testing for heterogeneity level. Statistically significant associations were observed between the clinical status and the presence of dilemmas, as well as level of conflict across several clinical conditions. Likewise, the level of conflict was associated with symptom severity. Results highlighted the clinical relevance and the transdiagnostic nature of implicative dilemmas. PMID:26675503

Frequency and impact of informant replacement in Alzheimer disease research.

PubMed

Grill, Joshua D; Zhou, Yan; Karlawish, Jason; Elashoff, David

2015-01-01

Informants serve an essential role in Alzheimer disease research. Were an informant to be replaced during a longitudinal study, this could have negative implications. We used data from the National Alzheimer's Coordinating Center Uniform Data Set to examine the frequency of informant replacement among Alzheimer disease dementia participants, whether patient and informant characteristics were associated with replacement, and how replacement affected research outcome measures. Informant replacement was common (15.5%) and typically occurred after the first or the second research visit. Adult child (24%) and other (38%) informants were more frequently replaced than spouse informants (10%). Older spouse informant age and younger adult child informant age were associated with replacement. The between-visit change in Functional Assessment Questionnaire scores was greater in patients who replaced informants than in those with stable informants. Clinical Dementia Rating-Sum of Boxes, Functional Assessment Questionnaire, and Neuropsychiatric Inventory scores showed greater variability in between-visit change in patients who replaced informants compared with those with stable informants. These findings suggest that informant replacement is relatively common, may have implications to study analyses, and warrant further examination in the setting of clinical trials.

Predictors of clinical-pathologic stage discrepancy in oral cavity squamous cell carcinoma: A National Cancer Database study.

PubMed

Kılıç, Sarah S; Kılıç, Suat; Crippen, Meghan M; Varughese, Denny; Eloy, Jean Anderson; Baredes, Soly; Mahmoud, Omar M; Park, Richard Chan Woo

2018-04-01

Few studies have examined the frequency and survival implications of clinicopathologic stage discrepancy in oral cavity squamous cell carcinoma (SCC). Oral cavity SCC cases with full pathologic staging information were identified in the National Cancer Database (NCDB). Clinical and pathologic stages were compared. Multivariate logistic regressions were performed to identify factors associated with stage discrepancy. There were 9110 cases identified, of which 67.3% of the cases were stage concordant, 19.9% were upstaged, and 12.8% were downstaged. The N classification discordance (28.5%) was more common than T classification discordance (27.6%). In cases of T classification discordance, downstaging is more common than upstaging (15.4% vs 12.1% of cases), but in cases of N classification discordance, the reverse is true; upstaging is much more common than downstaging (20.1 vs 8.4% of cases). Clinicopathologic stage discrepancy in oral cavity SCC is a common phenomenon that is associated with a number of clinical factors and has survival implications. © 2018 Wiley Periodicals, Inc.

Sensation Seeking and Impulsivity: Combined Associations with Risky Sexual Behavior in a Large Sample of Young Adults

PubMed Central

Charnigo, Richard; Noar, Seth M.; Garnett, Christopher; Crosby, Richard; Palmgreen, Philip; Zimmerman, Rick S.

2015-01-01

Although prior studies have shown that sensation seeking and impulsive decision-making are related to sexual risk-taking, it is still unclear whether these personality traits operate independently or synergistically. The purpose of this study was to elucidate the joint contribution of these personality traits to HIV and sexually transmitted disease (STD) risk behaviors using data from a large sample of sexually active young adults (N = 2,386). Regression modeling indicated that both sensation seeking and impulsive decision-making were consistently associated with sexual risk behaviors across 11 risk-related outcomes. Results further indicated that sensation seeking and impulsive decision-making operated synergistically with respect to the outcome variables of sex acts using drugs, acts with a partner using alcohol, and acts with a partner using drugs. In contrast to this, sensation seeking and impulsive decision-making operated independently with respect to the other sexual risk outcomes. Theoretical implications, as well as implications for HIV/STD prevention among high sensation seekers and impulsive decision-makers, are discussed. PMID:22456443

The effect of ketamine on the consolidation and extinction of contextual fear memory

PubMed Central

Thomas, Kerrie L; Hall, Jeremy

2018-01-01

Ketamine, principally an antagonist of N-methyl-ᴅ-aspartate receptors, induces schizophrenia-like symptoms in adult humans, warranting its use in the investigation of psychosis-related phenotypes in animal models. Genomic studies further implicate N-methyl-ᴅ-aspartate receptor-mediated processes in schizophrenia pathology, together with more broadly-defined synaptic plasticity and associative learning processes. Strong pathophysiological links have been demonstrated between fear learning and psychiatric disorders such as schizophrenia. To further investigate the impact of ketamine on associative fear learning, we studied the effects of pre- and post-training ketamine on the consolidation and extinction of contextual fear memory in rats. Administration of 25 mg/kg ketamine prior to fear conditioning did not affect consolidation when potentially confounding effects of state dependency were controlled for. Pre-training ketamine (25 mg/kg) impaired the extinction of the conditioned fear response, which was mirrored with the use of a lower dose (8 mg/kg). Post-training ketamine (25 mg/kg) had no effect on the consolidation or extinction of conditioned fear. These observations implicate processes relating to the extinction of contextual fear memory in the manifestation of ketamine-induced phenotypes, and are consistent with existing hypotheses surrounding abnormal associative learning in schizophrenia. PMID:29338491

Biomechanical and organisational stressors and associations with employment withdrawal among pregnant workers: evidence and implications.

PubMed

Guendelman, Sylvia; Gemmill, Alison; MacDonald, Leslie A

2016-12-01

The distribution of exposure to biomechanical and organisational job stressors (BOJS) and associations with employment withdrawal (antenatal leave, unemployment) was examined in a case-control study of 1114 pregnant workers in California. We performed descriptive and multivariate logistic and multinomial regression analyses. At pregnancy onset, 57% were exposed to one or more biomechanical stressors, including frequent bending, heavy lifting and prolonged standing. One-third were simultaneously exposed to BOJS. Exposure to biomechanical stressors declined as pregnancy progressed and cessation often (41%) coincided with employment withdrawal (antenatal leave and unemployment). In multivariate modelling, whether we adjusted for or considered organisational stressors as coincident exposures, results showed that pregnant workers exposed to biomechanical stressors had increased employment withdrawal compared to the unexposed. Work schedule accommodations moderate this association. Paid antenatal leave, available to few US women, was an important strategy for mitigating exposure to BOJS. Implications for science and policy are discussed. Practitioner Summary: This case-control study showed that exposure to biomechanical stressors decline throughout pregnancy. Antenatal leave was an important strategy used for mitigating exposure among sampled California women with access to paid benefits. Employment withdrawal among workers exposed to BJOS may be reduced by proactive administrative and engineering efforts applied early in pregnancy.

The Bodies Politic: Chronic Health Conditions and Voter Turnout in the 2008 Election.

PubMed

Gollust, Sarah E; Rahn, Wendy M

2015-12-01

Health policy researchers often evaluate the social and economic consequences of chronic illness, but rarely have they considered the implications of chronic illness on one important form of political participation: voting. However, if chronic illnesses--already unequally distributed in society--are associated with differential rates of voter turnout, then these inequalities in democratic representation could, in turn, produce further health inequity. In this study, we use data from eight states from the 2009 Behavioral Risk Factor Surveillance Survey to examine the associations between having diagnoses of five chronic conditions and turnout in the 2008 US presidential election. After adjusting for sociodemographic characteristics and some health-related confounding factors, we find that individuals with cancer diagnoses are more likely to vote, while those with heart disease diagnoses are less likely to vote. These associations differ by race and educational status; notably, African Americans and those with lower education with cancer are even more likely to turn out to vote than whites and those with more education with cancer. We discuss the implications of our findings in the context of health social movements and the role of health organizations in shaping political processes, important directions for the study of health politics. Copyright © 2016 by Duke University Press.

URBAN REVITALIZATION AND SEATTLE CRIME, 1982-2000.

PubMed

Kreager, Derek A; Lyons, Christopher J; Hays, Zachary R

2011-11-01

This study examines the relationship between crime and processes of urban revitalization, or gentrification. Drawing on recent urban demography research, we hypothesize that gentrification progressed rapidly in many American cities over the last decade of the 20 th century, and that these changes had implications for area crime rates. Criminological theories hold competing hypotheses for the connections between gentrification and crime, and quantitative studies of this link remain infrequent and limited. Using two measures of gentrification and longitudinal tract-level demographic and crime data for the city of Seattle, we find that many of Seattle's downtown tracts underwent rapid revitalization during the 1990's, and that these areas 1) saw reductions in crime relative to similar tracts that did not gentrify, and 2) were areas with higher-than-average crime at the beginning of the decade. Moreover, using a within-tract longitudinal design, we find that yearly housing investments in the 1980's showed a modest positive association with crime change, while yearly investments in the 1990's showed the opposite pattern. Our findings suggest a curvilinear gentrification-crime relationship, whereby gentrification in its earlier stages is associated with small increases in crime, but gentrification in its more consolidated form is associated with modest crime declines. Implications of these results for criminological theory, urban development, and broader crime patterns are discussed.

Examining reciprocal influences among family climate, school attachment, and academic self-regulation: Implications for school success.

PubMed

Xia, Mengya; Fosco, Gregory M; Feinberg, Mark E

2016-06-01

Guided by family systems and ecological theories, this study examined the multicontextual implications of family, school, and individual domains for adolescents' school success. The first goal of this study was to examine reciprocal influences among family climate, school attachment, and academic self-regulation (ASR) during the middle school years. The second goal was to test the relative impact of each of these domains on adolescents' school adjustment and academic achievement after the transition to high school. We applied a cross-lag structural equation modeling approach to longitudinal data from 979 students in the 6th grade and their families, followed over 5 measurement occasions, from 6th through 9th grade. Controlling for family income, parent education, and adolescent gender, the results revealed reciprocal relationships between the family climate and school attachment over time; both of these factors were related to increases in ASR over time. In turn, ASR was a robust predictor of academic success, with unique associations with school adjustment and academic achievement. Family climate and school adjustment had modest to marginal associations with school adjustment, and no association with academic achievement. Applications of these findings for family school interventions are discussed. (PsycINFO Database Record (c) 2016 APA, all rights reserved).

The Home and the ‘Hood: Associations between Housing and Neighborhood Contexts and Adolescent Functioning

PubMed Central

Elliott, Margaret C.; Leventhal, Tama; Shuey, Elizabeth A.; Lynch, Alicia Doyle; Coley, Rebekah Levine

2014-01-01

Adolescents from low-income families face various opportunities and constraints as they develop, with possible ramifications for their well-being. Two contexts of particular importance are the home and the neighborhood. Using adolescent data from the first two waves of the Three City Study (N = 1,169), this study explored associations among housing problems and neighborhood disorder with adolescents’ socioemotional problems, and how these associations varied by parental monitoring and gender. Results of hierarchical linear models suggest that poor quality housing was most predictive of the functioning of girls and of adolescents with restrictive curfews, whereas neighborhood disorder was a stronger predictor for boys. Implications for future research on associations between housing and neighborhood contexts and adolescent development are discussed. PMID:27019574

Race and the Religious Contexts of Violence: Linking Religion and White, Black, and Latino Violent Crime

PubMed Central

Ulmer, Jeffery T.; Harris, Casey T.

2014-01-01

Research has demonstrated that concentrated disadvantage and other measures are strongly associated with aggregate-level rates of violence, including across racial and ethnic groups. Less studied is the impact of cultural factors, including religious contextual measures. The current study addresses several key gaps in prior literature by utilizing race/ethnic-specific arrest data from California, New York, and Texas paired with religious contextual data from the Religious Congregations and Memberships Survey (RCMS). Results suggest that, net of important controls, (1) religious contextual measures have significant crime-reducing associations with violence, (2) these associations are race/ethnic-specific, and (3) religious contextual measures moderate the criminogenic association between disadvantage and violence for Blacks. Implications for future research are discussed. PMID:24976649

Cognitive reserve: implications for assessment and intervention.

PubMed

Stern, Yaakov

2013-01-01

The concept of reserve is used to explain the observation that some individuals function better than others in the presence of brain pathology. This article reviews the concept of reserve from its theoretical basis to the implication of reserve for clinical practice. A distinction between brain reserve, referring to individual differences in the anatomic substrate, and cognitive reserve, referring to differences in the flexibility or adaptivity of cognitive networks, is useful. Epidemiologic evidence indicates that a set of life exposures including higher educational and occupational attainment, and engaging in leisure activities is associated with a lower risk of incident dementia, suggesting that these life exposures may enhance cognitive reserve. This provides a basis for controlled clinical studies that can test specific exposures that may enhance reserve. The concept of cognitive reserve also has important implications for clinical practice in terms of diagnosis and prognosis. © 2013 S. Karger AG, Basel.

Cognitive Reserve: Implications for Assessment and Intervention

PubMed Central

Stern, Yaakov

2014-01-01

The concept of reserve is used to explain the observation that some individuals function better than others in the presence of brain pathology. This paper reviews the concept of reserve from its theoretical basis to the implication of reserve for clinical practice. A distinction between brain reserve, referring to individual differences in the anatomic substrate, and cognitive reserve, referring to differences in the flexibility or adaptivity of cognitive networks, is useful. Epidemiologic evidence indicates that a set of life exposures including higher educational and occupational attainment, and engaging in leisure activities is associated with a lower risk of incident dementia, suggesting that these life exposures may enhance cognitive reserve. This provides a basis for controlled clinical studies can test specific exposures that may enhance reserve. The concept of cognitive reserve also has important implications for clinical practice in terms of diagnosis and prognosis. PMID:23941972

Genes and gene networks implicated in aggression related behaviour.

PubMed

Malki, Karim; Pain, Oliver; Du Rietz, Ebba; Tosto, Maria Grazia; Paya-Cano, Jose; Sandnabba, Kenneth N; de Boer, Sietse; Schalkwyk, Leonard C; Sluyter, Frans

2014-10-01

Aggressive behaviour is a major cause of mortality and morbidity. Despite of moderate heritability estimates, progress in identifying the genetic factors underlying aggressive behaviour has been limited. There are currently three genetic mouse models of high and low aggression created using selective breeding. This is the first study to offer a global transcriptomic characterization of the prefrontal cortex across all three genetic mouse models of aggression. A systems biology approach has been applied to transcriptomic data across the three pairs of selected inbred mouse strains (Turku Aggressive (TA) and Turku Non-Aggressive (TNA), Short Attack Latency (SAL) and Long Attack Latency (LAL) mice and North Carolina Aggressive (NC900) and North Carolina Non-Aggressive (NC100)), providing novel insight into the neurobiological mechanisms and genetics underlying aggression. First, weighted gene co-expression network analysis (WGCNA) was performed to identify modules of highly correlated genes associated with aggression. Probe sets belonging to gene modules uncovered by WGCNA were carried forward for network analysis using ingenuity pathway analysis (IPA). The RankProd non-parametric algorithm was then used to statistically evaluate expression differences across the genes belonging to modules significantly associated with aggression. IPA uncovered two pathways, involving NF-kB and MAPKs. The secondary RankProd analysis yielded 14 differentially expressed genes, some of which have previously been implicated in pathways associated with aggressive behaviour, such as Adrbk2. The results highlighted plausible candidate genes and gene networks implicated in aggression-related behaviour.

The role of perceived family social support and parental solicitous responses in adjustment to bothersome pain in young people with physical disabilities.

PubMed

Miró, Jordi; de la Vega, Rocío; Gertz, Kevin J; Jensen, Mark P; Engel, Joyce M

2017-11-12

Family social support and parental solicitous responses have been hypothesised to play an important role in paediatric pain. However, research testing the hypothesised associations between these social domains and measures of adjustment to pain in youths with disabilities and chronic pain is non-existent. About 111 youths with physical disabilities and bothersome pain were interviewed and asked to complete measures of average pain intensity, pain interference, family social support, parent solicitous responding, and catastrophising. Children's perceptions of pain-related solicitous responses from their parent/guardian were associated both with more pain interference and greater pain-related catastrophising; perceived social support was negatively associated with pain interference. The findings provide new information regarding the role that psychosocial factors have in predicting function and adjustment, and have important implications as to how youth with physical disabilities with pain might be most effectively treated. Implications for rehabilitation Little is known about the role of perceived family social support or parental solicitous responses in the adjustment to chronic pain in young people with physical disabilities. This study provides new and important findings that have significant theoretical and practical implications that could help to understand and manage function in these patients. Results show that it matters how parents respond to their children with disabilities who have pain, and raise the possibility that interventions which target these responses may result in significant benefits for the children.

Integrated rare variant-based risk gene prioritization in disease case-control sequencing studies.

PubMed

Lin, Jhih-Rong; Zhang, Quanwei; Cai, Ying; Morrow, Bernice E; Zhang, Zhengdong D

2017-12-01

Rare variants of major effect play an important role in human complex diseases and can be discovered by sequencing-based genome-wide association studies. Here, we introduce an integrated approach that combines the rare variant association test with gene network and phenotype information to identify risk genes implicated by rare variants for human complex diseases. Our data integration method follows a 'discovery-driven' strategy without relying on prior knowledge about the disease and thus maintains the unbiased character of genome-wide association studies. Simulations reveal that our method can outperform a widely-used rare variant association test method by 2 to 3 times. In a case study of a small disease cohort, we uncovered putative risk genes and the corresponding rare variants that may act as genetic modifiers of congenital heart disease in 22q11.2 deletion syndrome patients. These variants were missed by a conventional approach that relied on the rare variant association test alone.

Association between COMT, PTSD, and Increased Smoking Following Hurricane Exposure in an Epidemiologic Sample

PubMed Central

Nugent, Nicole R.; Koenen, Karestan C.; Ruggiero, Kenneth J.; Acierno, Ron; Galea, Sandro; Kilpatrick, Dean G.; Gelernter, Joel

2009-01-01

Background Tobacco smoking has been found to increase after the experience of a traumatic event and has been associated with posttraumatic stress disorder (PTSD). Initiation and persistence of cigarette smoking is moderately heritable; two recent investigations have implicated the COMT Val158Met (also known as rs4680) polymorphism in smoking age of initiation, dependence, as well as in quantity and frequency of smoking. Method To examine a possible association of COMT Val158Met and posttrauma increases in cigarette smoking, we studied 614 adults from the 2004 Florida Hurricane Study who returned saliva DNA samples via mail. Results PTSD was strongly associated with increased smoking. Moreover, each COMT Val158Met ‘Met’ allele predicted a 2.10 fold risk of smoking post-hurricane independent of PTSD; follow-up analyses revealed that this finding was primarily driven by European-American males. Conclusions This study represents the first genetic association study (to our knowledge) of smoking behavior following an acute stressor. PMID:20070134

Effects of Olive Oil on TNF-α and IL-6 in Humans: Implication in Obesity and Frailty.

PubMed

Yarla, Nagendra S; Polito, Angela; Peluso, Ilaria

2018-01-01

Tumor necrosis factor-alpha (TNF)-α and interleukin (IL)-6 are important mediators of chronic low-grade systemic inflammation. The latter plays a central role in several obesity-related pathologies, such as diabetes, metabolic syndrome and cardiovascular diseases. Besides, these cytokines have been also implicated in geriatric and cancer-induced anorexia, cachexia, sarcopenia and frailty. Potential interventions for both obesity and frailty include dietary advice and nutraceuticals. In this context, the consumption of olive oil (OO) has been associated with the health effects of the Mediterranean diet (Med-diet). This review is aimed to discuss the OO-mediated modulation of TNF- α and IL-6 in human studies and the potential implication in obesity and frailty. The reviewed studies suggest that the improvement of postprandial TNF-α and IL-6 observed with OO consumption is affected by body mass index (BMI). The effects on TNF-α and IL-6 after medium and long-term consumptions involved many factors and the cross-talk between adipose tissue, liver, skeletal muscle and brain. Major anti-inflammatory effects were observed when OO was consumed with Med-diet, which is associated with healthy behaviors. In this context, the role of microbioma- polyphenols, diet-gene and exercise-gene interactions in the effects of OO on immune-mediated inflammatory responses involved in obesity and frailty deserves further investigation. Further studies are needed to clarify the effect of OO net of possible synergistic effects with other dietary and lifestyle factors of Mediterranean area. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

Medication Overuse Headache: Pathophysiological Insights from Structural and Functional Brain MRI Research.

PubMed

Schwedt, Todd J; Chong, Catherine D

2017-07-01

Research imaging of brain structure and function has helped to elucidate the pathophysiology of medication overuse headache (MOH). This is a narrative review of imaging research studies that have investigated brain structural and functional alterations associated with MOH. Studies included in this review have investigated abnormal structure and function of pain processing regions in people with MOH, functional patterns that might predispose individuals to development of MOH, similarity of brain functional patterns in patients with MOH to those found in people with addiction, brain structure that could predict headache improvement following discontinuation of the overused medication, and changes in brain structure and function after discontinuation of medication overuse. MOH is associated with atypical structure and function of brain regions responsible for pain processing as well as brain regions that are commonly implicated in addiction. Several studies have shown "normalization" of structure and function in pain processing regions following discontinuation of the overused medication and resolution of MOH. However, some of the abnormalities in regions also implicated in addiction tend to persist following discontinuation of the overused medication, suggesting that they are a brain trait that predisposes certain individuals to medication overuse and MOH. © 2017 American Headache Society.

The Association between Work-Related Rumination and Heart Rate Variability: A Field Study.

PubMed

Cropley, Mark; Plans, David; Morelli, Davide; Sütterlin, Stefan; Inceoglu, Ilke; Thomas, Geoff; Chu, Chris

2017-01-01

The objective of this study was to examine the association between perseverative cognition in the form of work-related rumination, and heart rate variability (HRV). We tested the hypothesis that high ruminators would show lower vagally mediated HRV relative to low ruminators during their leisure time. Individuals were classified as being low ( n = 17) or high ruminators ( n = 19), using the affective scale on the work-related rumination measure. HRV was assessed using a wrist sensor band (Microsoft Band 2). HRV was sampled between 8 pm and 10 pm over three workday evenings (Monday to Wednesday) while individuals carried out their normal evening routines. Compared to the low ruminators, high affective ruminators demonstrated lower HRV in the form of root mean square successive differences (RMSSDs), relative to the low ruminators, indicating lower parasympathetic activity. There was no significant difference in heart rate, or activity levels between the two groups during the recording periods. The current findings of this study may have implications for the design and delivery of interventions to help individuals unwind post work and to manage stress more effectively. Limitations and implications for future research are discussed.

The Association between Work-Related Rumination and Heart Rate Variability: A Field Study

PubMed Central

Cropley, Mark; Plans, David; Morelli, Davide; Sütterlin, Stefan; Inceoglu, Ilke; Thomas, Geoff; Chu, Chris

2017-01-01

The objective of this study was to examine the association between perseverative cognition in the form of work-related rumination, and heart rate variability (HRV). We tested the hypothesis that high ruminators would show lower vagally mediated HRV relative to low ruminators during their leisure time. Individuals were classified as being low (n = 17) or high ruminators (n = 19), using the affective scale on the work-related rumination measure. HRV was assessed using a wrist sensor band (Microsoft Band 2). HRV was sampled between 8 pm and 10 pm over three workday evenings (Monday to Wednesday) while individuals carried out their normal evening routines. Compared to the low ruminators, high affective ruminators demonstrated lower HRV in the form of root mean square successive differences (RMSSDs), relative to the low ruminators, indicating lower parasympathetic activity. There was no significant difference in heart rate, or activity levels between the two groups during the recording periods. The current findings of this study may have implications for the design and delivery of interventions to help individuals unwind post work and to manage stress more effectively. Limitations and implications for future research are discussed. PMID:28197087

What Factors are Associated with Consumer Initiation of Shared Decision Making in Mental Health Visits?

PubMed

Matthias, Marianne S; Fukui, Sadaaki; Salyers, Michelle P

2017-01-01

Understanding consumer initiation of shared decision making (SDM) is critical to improving SDM in mental health consultations, particularly because providers do not always invite consumer participation in treatment decisions. This study examined the association between consumer initiation of nine elements of SDM as measured by the SDM scale, and measures of consumer illness self-management and the consumer-provider relationship. In 63 mental health visits, three SDM elements were associated with self-management or relationship factors: discussion of consumer goals, treatment alternatives, and pros and cons of a decision. Limitations, implications, and future directions are discussed.

H. pylori and Barrett's Esophagus: Implications for Populations and Practice.

PubMed

Howden, Colin W

2018-06-19

In this edition of the American Journal of Gastroenterology, Wang and colleagues report the results of an analysis of six different case-control studies examining the relationship between Helicobacter pylori (H. pylori) infection and Barrett's esophagus. They present a cogent argument that there is an inverse association between these two that is mediated via GERD. This is broadly consistent with previous reports. While further establishing this inverse association, the findings should not materially influence our routine clinical practice regarding GERD or H. pylori infection.

Causal Attributions and Parents' Acceptance of Their Homosexual Sons.

PubMed

Belsky, Yael; Diamond, Gary M

2015-01-01

This Internet-based study examined the association between Israeli parents' attributions regarding the cause of their son's homosexuality and their level of acceptance of their homosexual son. The sample (N = 57) was recruited via Internet Web sites (gay forums and support groups). Findings suggest that more essentialist (versus constructivist) causal attributions were associated with higher levels of parental acceptance. Length of time parents knew of their son's homosexual orientation predicted the degree to which their attributions were essentialist. Implications are discussed.

Power, politics, and top management team characteristics: do they matter?

PubMed

Gerowitz, M B

1998-01-01

This study assesses the contributions of the leader power and top management team characteristics to perceived strategic capability. Low age heterogeneity and low tenure heterogeneity were found to have a positive association with perceived adaptability. High diversity in educational specialization was also found to be positively associated with adaptability. Top management perceptions of CEO power were, however, lower among high adaptors. Implications for leadership research, senior management recruitment, and the design of management development for top management teams are discussed.

Genetic study of multimodal imaging Alzheimer's disease progression score implicates novel loci.

PubMed

Scelsi, Marzia A; Khan, Raiyan R; Lorenzi, Marco; Christopher, Leigh; Greicius, Michael D; Schott, Jonathan M; Ourselin, Sebastien; Altmann, Andre

2018-05-30

Identifying genetic risk factors underpinning different aspects of Alzheimer's disease has the potential to provide important insights into pathogenesis. Moving away from simple case-control definitions, there is considerable interest in using quantitative endophenotypes, such as those derived from imaging as outcome measures. Previous genome-wide association studies of imaging-derived biomarkers in sporadic late-onset Alzheimer's disease focused only on phenotypes derived from single imaging modalities. In contrast, we computed a novel multi-modal neuroimaging phenotype comprising cortical amyloid burden and bilateral hippocampal volume. Both imaging biomarkers were used as input to a disease progression modelling algorithm, which estimates the biomarkers' long-term evolution curves from population-based longitudinal data. Among other parameters, the algorithm computes the shift in time required to optimally align a subjects' biomarker trajectories with these population curves. This time shift serves as a disease progression score and it was used as a quantitative trait in a discovery genome-wide association study with n = 944 subjects from the Alzheimer's Disease Neuroimaging Initiative database diagnosed as Alzheimer's disease, mild cognitive impairment or healthy at the time of imaging. We identified a genome-wide significant locus implicating LCORL (rs6850306, chromosome 4; P = 1.03 × 10-8). The top variant rs6850306 was found to act as an expression quantitative trait locus for LCORL in brain tissue. The clinical role of rs6850306 in conversion from healthy ageing to mild cognitive impairment or Alzheimer's disease was further validated in an independent cohort comprising healthy, older subjects from the National Alzheimer's Coordinating Center database. Specifically, possession of a minor allele at rs6850306 was protective against conversion from mild cognitive impairment to Alzheimer's disease in the National Alzheimer's Coordinating Center cohort (hazard ratio = 0.593, 95% confidence interval = 0.387-0.907, n = 911, PBonf = 0.032), in keeping with the negative direction of effect reported in the genome-wide association study (βdisease progression score = -0.07 ± 0.01). The implicated locus is linked to genes with known connections to Alzheimer's disease pathophysiology and other neurodegenerative diseases. Using multimodal imaging phenotypes in association studies may assist in unveiling the genetic drivers of the onset and progression of complex diseases.

"It's a Dog's Life": Culture, Empathy, Gender, and Domestic Violence Predict Animal Abuse in Adolescents-Implications for Societal Health.

PubMed

Plant, Malcolm; van Schaik, Paul; Gullone, Eleonora; Flynn, Clifton

2016-07-01

Whereas the majority of previous research conducted on animal abuse has been in environments where animal abuse is rarely evidenced, the current study investigated the ramifications of animal abuse in an environment wherein the national culture creates an ethos of the "social acceptability" of animal abuse in society. Two survey studies were conducted with adolescent participants, to investigate the role played by several factors in the prediction of animal abuse in this age group. In Study 1, with samples from two different national cultures (101 from Germany and 169 from Romania; 143 boys/135 girls; age 13 to 17), animal abuse was negatively associated with affective empathy and national culture; more frequent animal abuse was found in Romania. Affective empathy fully mediated the association between gender and animal abuse. Specifically, girls were found to be higher in affective empathy; in turn, participants who were higher in affective empathy committed less animal abuse. Witnessing animal abuse was also predictive of engaging in animal abuse, but not independent of national culture. In Study 2, 15-year-old males ( n = 21) and females ( n = 39) took part, 29 from rural and 31 from urban locations in Romania. Rural adolescents were more likely to abuse animals and had higher exposure to domestic violence, which (in turn) was associated with more animal abuse. The implications of these findings in a society where animal abuse is encouraged and enacted on a national scale are discussed.

Hostility, driving anger, and dangerous driving: the emerging role of hemispheric preference.

PubMed

Gidron, Yori; Gaygısız, Esma; Lajunen, Timo

2014-12-01

Various studies have implicated psychosocial variables (e.g., hostility) in risk of dangerous driving and traffic accidents. However, whether these variables are related to more basic neurobiological factors, and whether such associations have implications for the modification of psychosocial risk factors in the context of driving, have not been examined in depth. This study examined the relationship between hemispheric preference (HP), hostility and self-reported dangerous driving, and the ability to affect driving anger via hemisphere activating cognitive exercises (HACE). In Study 1, 254 Turkish students completed questionnaires of hostility, HP and driving behavior. In Study 2, we conducted a "proof of concept" experimental study, and tested effects of left, right and neutral HACE on driving anger, by exposing N=650 Turkish students to written scenarios including either logical (left hemisphere), visuo-spatial (right hemisphere) or "mild doses" of both types of contents (control). In Study 1, left-HP was associated with higher hostility and with more dangerous driving, and hostility mediated the relationship between L-HP and reported driving behavior. In Study 2, only right-HACE led to immediate significant reductions in self-reported driving anger. Left-HP is related to hostility and to dangerous driving, and it may be possible to partly reduce driving anger by right-HACE. Future studies must replicate these findings with objective measures, more enduring interventions and longer follow-ups. Copyright © 2014. Published by Elsevier Ltd.

Association of reading disability on chromosome 6p22 in the Afrikaner population.

PubMed

Platko, Jill V; Wood, Frank B; Pelser, Izelda; Meyer, Marianne; Gericke, George S; O'Rourke, Julia; Birns, Julie; Purcell, Shaun; Pauls, David L

2008-10-05

The genetic basis of reading disability (RD) has long been established through family and twin studies. More recently genetic linkage studies have identified genomic regions that appear to harbor susceptibility genes for RD. Association studies have been shown to have greater power for detecting genes of modest effect, particularly in genetically isolated populations. Hence, a case control study of RD was undertaken in the Afrikaner population in South Africa. Sixty-eight microsatellite markers in regions where linkages had been reported in previous studies were genotyped on 122 children with reading disability and 112 typically reading controls drawn from the same school population. A single allele of marker D6S299 showed a highly significant association with the RD phenotype (D6S299[229], P-value 0.000014). Other markers on other chromosomes also showed suggestive associations. Of particular interest were markers on chromosomes 1 and 15. These two regions have been implicated in studies of populations that formed the founding population in the Afrikaner population.

Genetic studies on the ghrelin, growth hormone secretagogue receptor (GHSR) and ghrelin O-acyl transferase (GOAT) genes.

PubMed

Liu, Boyang; Garcia, Edwin A; Korbonits, Márta

2011-11-01

Ghrelin is a 28 amino acid peptide hormone that is produced both centrally and peripherally. Regulated by the ghrelin O-acyl transferase enzyme, ghrelin exerts its action through the growth hormone secretagogue receptor, and is implicated in a diverse range of physiological processes. These implications have placed the ghrelin signaling pathway at the center of a large number of candidate gene and genome-wide studies which aim to identify the genetic basis of human heterogeneity. In this review we summarize the available data on the genetic variability of ghrelin, its receptor and its regulatory enzyme, and their association with obesity, stature, type 2 diabetes, cardiovascular disease, eating disorders, and reward seeking behavior. Copyright © 2011 Elsevier Inc. All rights reserved.

The social phenotype of Williams syndrome.

PubMed

Järvinen, Anna; Korenberg, Julie R; Bellugi, Ursula

2013-06-01

Williams syndrome (WS) offers an exciting model for social neuroscience because its genetic basis is well-defined, and the unique phenotype reflects dimensions of prosocial behaviors. WS is associated with a strong drive to approach strangers, a gregarious personality, heightened social engagement yet difficult peer interactions, high nonsocial anxiety, unusual bias toward positive affect, and diminished sensitivity to fear. New neurobiological evidence points toward alterations in structure, function, and connectivity of the social brain (amygdala, fusiform face area, orbital-frontal regions). Recent genetic studies implicate gene networks in the WS region with the dysregulation of prosocial neuropeptides. The study of WS has implications for understanding human social development, and may provide insight for translating genetic and neuroendocrine evidence into treatments for disorders of social behavior. Copyright © 2013 Elsevier Ltd. All rights reserved.

Pumps vs. airlifts: Theoretical and practical energy implications

USDA-ARS?s Scientific Manuscript database

In the design of a recirculating aquaculture system five life-supporting issues should be considered which include aeration, degasification, circulation, biofiltration, and clarification. The implications associated with choosing a pumped system versus an airlift system to address these issues was e...

Risk and Protective Factors for Early Substance Use Initiation: A Longitudinal Study of Mexican-Origin Youth

PubMed Central

Atherton, Olivia E.; Conger, Rand D.; Ferrer, Emilio; Robins, Richard W.

2015-01-01

Substance use initiation in adolescence is a critical issue, given its association with substance dependency and associated problems in adulthood. However, due to the dearth of fine-grained, longitudinal studies, the factors associated with early initiation are poorly understood, especially in minority youth. The present study examined substance use initiation in a sample of Mexican-origin youth (N=674) assessed annually from age 10 to 16. Using discrete-time survival analyses, we found that initiation escalated rapidly from late childhood to adolescence, and we identified a wide range of factors, from the individual to the cultural level of analysis, that significantly increased or decreased risk for early initiation. These findings have important implications for programs aimed at preventing early substance use by Mexican-origin youth. PMID:27990071

Self-forgiveness is associated with reduced psychological distress in cancer patients and unmatched caregivers: Hope and self-blame as mediating mechanisms.

PubMed

Toussaint, Loren; Barry, Michael; Angus, Drew; Bornfriend, Lynn; Markman, Maurie

2017-01-01

This study examined the association between self-forgiveness and psychological distress and tested whether self-blame and hope mediated these associations equally for both patients and caregivers. Participants were 38 patients and 44 unmatched caregivers receiving care at a national cancer hospital. Participants completed measures of self-forgiveness, self-blame, hope, and psychological distress. Self-forgiveness was inversely associated with self-blame and psychological distress and positively associated with hope. Self-forgiveness was indirectly associated with psychological distress through hope but not self-blame and more strongly for caregivers than patients. Group differences between patients and caregivers in associations are intriguing and may have implications for improved psychosocial care of cancer patients and support of caregivers.

Systematic Review of Medical Informatics-Supported Medication Decision Making.

PubMed

Melton, Brittany L

2017-01-01

This systematic review sought to assess the applications and implications of current medical informatics-based decision support systems related to medication prescribing and use. Studies published between January 2006 and July 2016 which were indexed in PubMed and written in English were reviewed, and 39 studies were ultimately included. Most of the studies looked at computerized provider order entry or clinical decision support systems. Most studies examined decision support systems as a means of reducing errors or risk, particularly associated with medication prescribing, whereas a few studies evaluated the impact medical informatics-based decision support systems have on workflow or operations efficiency. Most studies identified benefits associated with decision support systems, but some indicate there is room for improvement.

The psychological disengagement model among women in science, engineering, and technology.

PubMed

Beaton, Ann M; Tougas, Francine; Rinfret, Natalie; Monger, Tanya

2015-09-01

Psychological responses to personal relative deprivation based on self/outgroup comparisons (named self/outgroup PRD) were explored among women in science, engineering, and technology according to the Psychological Disengagement Model. Three studies revealed that the experience of self/outgroup PRD increased women's likelihood of discounting the feedback they received at work. In turn, discounting led them to devalue their profession. Each study further documented the damaging effect of both psychological disengagement mechanisms. Study 1 (N = 93) revealed that discounting and devaluing were associated with decreased self-esteem. These results were replicated in Studies 2 and 3. Study 2 (N = 163) demonstrated that discounting and devaluing were also associated with reduced self-esteem stability. Study 3 (N = 187) further showed that psychological disengagement was also associated with women's occupational commitment. Theoretical and practical implications of these results are considered. © 2014 The British Psychological Society.

Exploring metabolic dysfunction in chronic kidney disease

PubMed Central

2012-01-01

Impaired kidney function and chronic kidney disease (CKD) leading to kidney failure and end-stage renal disease (ESRD) is a serious medical condition associated with increased morbidity, mortality, and in particular cardiovascular disease (CVD) risk. CKD is associated with multiple physiological and metabolic disturbances, including hypertension, dyslipidemia and the anorexia-cachexia syndrome which are linked to poor outcomes. Specific hormonal, inflammatory, and nutritional-metabolic factors may play key roles in CKD development and pathogenesis. These include raised proinflammatory cytokines, such as interleukin-1 and −6, tumor necrosis factor, altered hepatic acute phase proteins, including reduced albumin, increased C-reactive protein, and perturbations in normal anabolic hormone responses with reduced growth hormone-insulin-like growth factor-1 axis activity. Others include hyperactivation of the renin-angiotensin aldosterone system (RAAS), with angiotensin II and aldosterone implicated in hypertension and the promotion of insulin resistance, and subsequent pharmacological blockade shown to improve blood pressure, metabolic control and offer reno-protective effects. Abnormal adipocytokine levels including leptin and adiponectin may further promote the insulin resistant, and proinflammatory state in CKD. Ghrelin may be also implicated and controversial studies suggest activities may be reduced in human CKD, and may provide a rationale for administration of acyl-ghrelin. Poor vitamin D status has also been associated with patient outcome and CVD risk and may indicate a role for supplementation. Glucocorticoid activities traditionally known for their involvement in the pathogenesis of a number of disease states are increased and may be implicated in CKD-associated hypertension, insulin resistance, diabetes risk and cachexia, both directly and indirectly through effects on other systems including activation of the mineralcorticoid receptor. Insight into the multiple factors altered in CKD may provide useful information on disease pathogenesis, clinical assessment and treatment rationale such as potential pharmacological, nutritional and exercise therapies. PMID:22537670

Prognostic Implications of Monosomies in Patients With Multiple Myeloma.

PubMed

Shin, Sang-Yong; Eom, Hyeon-Seok; Sohn, Ji Yeon; Lee, Hyewon; Park, Boram; Joo, Jungnam; Jang, Ja-Hyun; Lee, Mi-Na; Kim, Jung Kwon; Kong, Sun-Young

2017-03-01

Cytogenetic analysis aides in risk stratification for patients with multiple myeloma (MM). Although several cytogenetic aberrations have been reported to be prognostic, less is known about the association between the presence of monosomies and prognosis. The present study evaluated the prevalence and prognostic implications of monosomies in patients with MM. Karyotypes were determined using conventional cytogenetics and fluorescence in situ hybridization (FISH). The prognostic effect of monosomies was evaluated by comparison with the clinical factors in MM patients with normal karyotypes. Karyotypes were successfully determined in 167 of the 170 patients with MM. Of these 167 patients, 52 (31.1%) had abnormal karyotypes. Univariable analyses showed that a normal karyotype, hypodiploidy, monosomies of chromosomes 13 and 16, deletion or monosomy of 13q14, and loss of X detected by metaphase analysis were each associated with reduced progression-free survival (P < .05 for each). Univariable analyses showed that a normal karyotype, hypodiploidy, monosomies of chromosomes 13 and 16, deletion or monosomy of 13q14 detected by metaphase analysis and FISH-determined RB1 (13q)/TP53 (17p) deletion were each associated with reduced overall survival (P < .05 for each). Multivariable analysis showed that hypodiploidy detected by metaphase analysis was independently prognostic of shorter progression-free survival (P < .05 for each) and that hypodiploidy, monosomy 16, and loss of Y chromosome and FISH-determined TP53 (17p) deletion were associated with reduced overall survival (P < .05 for each). In addition to known cytogenetic abnormalities, such as monosomy 13, hypodiploidy, and TP53 (17p) deletion, monosomy 16 and loss of the Y chromosome have adverse prognostic implications in patients with MM. Copyright © 2016 Elsevier Inc. All rights reserved.

Correlates of quality of life among African American and white cancer survivors.

PubMed

Matthews, Alicia K; Tejeda, Silvia; Johnson, Timothy P; Berbaum, Michael L; Manfredi, Clara

2012-01-01

African Americans continue to suffer disproportionately from cancer morbidity and mortality, with emerging evidence suggesting potential quality of life (QOL) disparities in the survivorship period. The objective of the study was to assess sociodemographic, clinical, and psychosocial factors associated with physical and mental health QOL (PHQOL and MHQOL) among African American and white cancer survivors. Patients were recruited from tumor registries. Telephone interviews were conducted with 248 African American and 244 white respondents with a history of breast, prostate, or colorectal cancers. Multivariate regression models were used to assess what factors were associated with PHQOL and MHQOL. Key racial differences in adjusted analyses included poorer MHQOL scores among African Americans compared with white survivors. Furthermore, race moderated the relationship between perceived social support and MHQOL, where higher social support levels were associated with increased MHQOL among African Americans. Other correlates of QOL impacted racial groups similarly. For example, factors associated with PHQOL scores included being unemployed, being uninsured, the presence of medical comorbidities, a longer time since diagnosis, and higher levels of cancer-related stress appraisals. Factors associated with MHQOL scores included being unemployed, higher levels of daily stress, higher levels of stress associated with the diagnosis, higher levels of education, higher levels of perceived social support, and higher levels of spirituality. Interventions aimed at increasing social support may have important implications for improving QOL outcomes among African Americans. Measuring and understanding factors associated with QOL have important implications for patient adjustment and clinical decision making.

Dopamine, but not serotonin, regulates reversal learning in the marmoset caudate nucleus

PubMed Central

Clarke, H. F.; Hill, G. J.; Robbins, T. W.; Roberts, A. C.

2011-01-01

Studies of visual discrimination reversal learning have revealed striking neurochemical dissociations at the level of the orbitofrontal cortex (OFC) with serotoninergic, but not dopaminergic integrity being important for successful reversal learning. These findings have considerable implications for disorders such as obsessive compulsive disorder and schizophrenia in which reversal learning is impaired, and are primarily treated with drugs targeting the dopaminergic and serotoninergic systems. Dysfunction in such disorders however, is not limited to the OFC and extends subcortically to other structures implicated in reversal learning, such as the medial caudate nucleus. Therefore, because the roles of the serotonin and dopamine within the caudate nucleus are poorly understood, this study compared the effects of selective serotoninergic or selective dopaminergic depletions of the marmoset medial caudate nucleus on serial discrimination reversal learning. All monkeys were able to learn novel stimulus-reward associations, but unlike control monkeys and monkeys with selective serotoninergic medial caudate depletions, dopamine-depleted monkeys were markedly impaired in their ability to reverse this association. This impairment was not perseverative in nature. These findings are the opposite of those seen in the OFC and provide evidence for a neurochemical double dissociation between the OFC and medial caudate in the regulation of reversal learning. Whilst the specific contributions of these monoamines within the OFC-striatal circuit remain to be elucidated, these findings have profound implications for the development of drugs designed to remediate some of the cognitive processes underlying impaired reversal learning. PMID:21411670

Normal variation in fronto-occipital circuitry and cerebellar structure with an autism-associated polymorphism of CNTNAP2

PubMed Central

Tan, Geoffrey C.Y.; Doke, Thomas F.; Ashburner, John; Wood, Nicholas W.; Frackowiak, Richard S.J.

2010-01-01

Recent genetic studies have implicated a number of candidate genes in the pathogenesis of Autism Spectrum Disorder (ASD). Polymorphisms of CNTNAP2 (contactin-associated like protein-2), a member of the neurexin family, have already been implicated as a susceptibility gene for autism by at least 3 separate studies. We investigated variation in white and grey matter morphology using structural MRI and diffusion tensor imaging. We compared volumetric differences in white and grey matter and fractional anisotropy values in control subjects characterised by genotype at rs7794745, a single nucleotide polymorphism in CNTNAP2. Homozygotes for the risk allele showed significant reductions in grey and white matter volume and fractional anisotropy in several regions that have already been implicated in ASD, including the cerebellum, fusiform gyrus, occipital and frontal cortices. Male homozygotes for the risk alleles showed greater reductions in grey matter in the right frontal pole and in FA in the right rostral fronto-occipital fasciculus compared to their female counterparts who showed greater reductions in FA of the anterior thalamic radiation. Thus a risk allele for autism results in significant cerebral morphological variation, despite the absence of overt symptoms or behavioural abnormalities. The results are consistent with accumulating evidence of CNTNAP2's function in neuronal development. The finding suggests the possibility that the heterogeneous manifestations of ASD can be aetiologically characterised into distinct subtypes through genetic-morphological analysis. PMID:20176116

Genome-Wide Association Study for Circulating Tissue Plasminogen Activator (tPA) Levels and Functional Follow-up Implicates Endothelial STXBP5 and STX2

PubMed Central

Huang, Jie; Huffman, Jennifer E.; Yamkauchi, Munekazu; Trompet, Stella; Asselbergs, Folkert W.; Sabater-Lleal, Maria; Trégouët, David-Alexandre; Chen, Wei-Min; Smith, Nicholas L.; Kleber, Marcus E.; Shin, So-Youn; Becker, Diane M.; Tang, Weihong; Dehghan, Abbas; Johnson, Andrew D.; Truong, Vinh; Folkersen, Lasse; Yang, Qiong; Oudot-Mellakh, Tiphaine; Buckley, Brendan M.; Moore, Jason H.; Williams, Frances M.K.; Campbell, Harry; Silbernagel, Günther; Vitart, Veronique; Rudan, Igor; Tofler, Geoffrey H.; Navis, Gerjan J.; DeStefano, Anita; Wright, Alan F.; Chen, Ming-Huei; de Craen, Anton J.M.; Worrall, Bradford B.; Rudnicka, Alicja R.; Rumley, Ann; Bookman, Ebony B.; Psaty, Bruce M.; Chen, Fang; Keene, Keith L.; Franco, Oscar H.; Böhm, Bernhard O.; Uitterlinden, Andre G.; Carter, Angela M.; Jukema, J. Wouter; Sattar, Naveed; Bis, Joshua C.; Ikram, Mohammad A.; Sale, Michèle M.; McKnight, Barbara; Fornage, Myriam; Ford, Ian; Taylor, Kent; Slagboom, P. Eline; McArdle, Wendy L.; Hsu, Fang-Chi; Franco-Cereceda, Anders; Goodall, Alison H.; Yanek, Lisa R.; Furie, Karen L.; Cushman, Mary; Hofman, Albert; Witteman, Jacqueline CM.; Folsom, Aaron R.; Basu, Saonli; Matijevic, Nena; van Gilst, Wiek H.; Wilson, James F.; Westendorp, Rudi G.J.; Kathiresan, Sekar; Reilly, Muredach P.; Tracy, Russell P.; Polasek, Ozren; Winkelmann, Bernhard R.; Grant, Peter J.; Hillege, Hans L.; Cambien, Francois; Stott, David J.; Lowe, Gordon D.; Spector, Timothy D.; Meigs, James B.; Marz, Winfried; Eriksson, Per; Becker, Lewis C.; Morange, Pierre-Emmanuel; Soranzo, Nicole; Williams, Scott M.; Hayward, Caroline; van der Harst, Pim; Hamsten, Anders; Lowenstein, Charles J.; Strachan, David P.; O'Donnell, Christopher J.

2014-01-01

Objective Tissue plasminogen activator (tPA), a serine protease, catalyzes the conversion of plasminogen to plasmin, the major enzyme responsible for endogenous fibrinolysis. In some populations, elevated plasma levels of tPA have been associated with myocardial infarction and other cardiovascular diseases (CVD). We conducted a meta-analysis of genome-wide association studies (GWAS) to identify novel correlates of circulating levels of tPA. Approach and Results Fourteen cohort studies with tPA measures (N=26,929) contributed to the meta-analysis. Three loci were significantly associated with circulating tPA levels (P <5.0×10−8). The first locus is on 6q24.3, with the lead SNP (rs9399599, P=2.9×10−14) within STXBP5. The second locus is on 8p11.21. The lead SNP (rs3136739, P=1.3×10−9) is intronic to POLB and less than 200kb away from the tPA encoding gene PLAT. We identified a non-synonymous SNP (rs2020921) in modest LD with rs3136739 (r2 = 0.50) within exon 5 of PLAT (P=2.0×10−8). The third locus is on 12q24.33, with the lead SNP (rs7301826, P=1.0×10−9) within intron 7 of STX2. We further found evidence for association of lead SNPs in STXBP5 and STX2 with expression levels of the respective transcripts. In in vitro cell studies, silencing STXBP5 decreased release of tPA from vascular endothelial cells, while silencing of STX2 increased tPA release. Through an in-silico lookup, we found no associations of the three lead SNPs with coronary artery disease or stroke. Conclusions We identified three loci associated with circulating tPA levels, the PLAT region, STXBP5 and STX2. Our functional studies implicate a novel role for STXBP5 and STX2 in regulating tPA release. PMID:24578379