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Sample records for positively genetically correlated

  1. Variation in habitat connectivity generates positive correlations between species and genetic diversity in a metacommunity.

    Science.gov (United States)

    Lamy, T; Jarne, P; Laroche, F; Pointier, J-P; Huth, G; Segard, A; David, P

    2013-09-01

    An increasing number of studies are simultaneously investigating species diversity (SD) and genetic diversity (GD) in the same systems, looking for 'species- genetic diversity correlations' (SGDCs). From negative to positive SGDCs have been reported, but studies have generally not quantified the processes underlying these correlations. They were also mostly conducted at large biogeographical scales or in recently degraded habitats. Such correlations have not been looked for in natural networks of connected habitat fragments (metacommunities), and the underlying processes remain elusive in most systems. We investigated these issues by studying freshwater snails in a pond network in Guadeloupe (Lesser Antilles). We recorded SD and habitat characteristics in 232 ponds and assessed GD in 75 populations of two species. Strongly significant and positive SGDCs were detected in both species. Based on a decomposition of SGDC as a function of variance-covariance of habitat characteristics, we showed that connectivity (opportunity of water flow between a site and the nearest watershed during the rainy season) has the strongest contribution on SGDCs. More connective sites received both more alleles and more species through immigration resulting in both higher GD and higher SD. Other habitat characteristics did not contribute, or contributed negatively, to SGDCs. This is true of the desiccation frequency of ponds during the dry season, presumably because species markedly differ in their ability to tolerate desiccation. Our study shows that variation in environmental characteristics of habitat patches can promote SGDCs at metacommunity scale when the studied species respond homogeneously to these environmental characteristics. © 2013 John Wiley & Sons Ltd.

  2. Adolescent Age Moderates Genetic and Environmental Influences on Parent-Adolescent Positivity and Negativity: Implications for Genotype-Environment Correlation

    Science.gov (United States)

    Marceau, Kristine; Knopik, Valerie S.; Neiderhiser, Jenae M.; Lichtenstein, Paul; Spotts, Erica L.; Ganiban, Jody M.; Reiss, David

    2015-01-01

    In the present study we examined how genotype-environment correlation processes differ as a function of adolescent age. We tested whether adolescent age moderates genetic and environmental influences on positivity and negativity in mother-adolescent and father-adolescent relationships using parallel samples of twin parents from the Twin and Offspring Study in Sweden and twin/sibling adolescents from the Nonshared Environment in Adolescent Development Study. We inferred differences in the role of passive and non-passive genotype-environment correlation based on biometric moderation findings. Findings indicated that non-passive rGE played a stronger role for positivity in mother- and father- adolescent relationships in families with older adolescents than families with younger adolescents, and that passive rGE played a stronger role for positivity in the mother-adolescent relationship in families with younger adolescents than in families with older adolescents. Implications of these findings for the timing and targeting of interventions on family relationships are discussed. PMID:25924807

  3. Antineutrophil cytoplasm antibody: positivity and clinical correlation.

    Science.gov (United States)

    Martínez Téllez, Goitybell; Torres Rives, Bárbara; Rangel Velázquez, Suchiquil; Sánchez Rodríguez, Vicky; Ramos Ríos, María Antonia; Fuentes Smith, Lisset Evelyn

    2015-01-01

    To determine positivity and clinical correlation of anti-neutrophil cytoplasmic antibodies (ANCA), taking into account the interference of antinuclear antibodies (ANA). A prospective study was conducted in the Laboratory of Immunology of the National Cuban Center of Medical Genetic during one year. Two hounded sixty-seven patients with indication for ANCA determination were included. ANCA and ANA determinations with different cut off points and assays were determined by indirect immunofluorescense. Anti proteinase 3 and antimyeloperoxidase antibodies were determined by ELISA. Most positivity for ANCA was seen in patients with ANCA associated, primary small-vessel vasculitides, rheumatoid arthritis and systemic lupus erythematosus. Presence of ANCA without positivity for proteinase 3 and myeloperoxidase was higher in patients with ANA and little relation was observed between the perinuclear pattern confirmed in formalin and specificity by myeloperoxidase. Highest sensibility and specificity values for vasculitides diagnostic were achieved by ANCA determination using indirect immunofluorescense with a cut off 1/80 and confirming antigenic specificities with ELISA. ANCA can be present in a great number of chronic inflammatory or autoimmune disorders in the population studied. This determination using indirect immunofluorescence and following by ELISA had a great value for vasculitis diagnosis. Anti mieloperoxidasa assay has a higher utility than the formalin assay when ANA is present. Copyright © 2013 Elsevier España, S.L.U. All rights reserved.

  4. The genetic correlation between procrastination and impulsivity.

    Science.gov (United States)

    Loehlin, John C; Martin, Nicholas G

    2014-12-01

    The reported genetic correlation of 1.0 between the traits of procrastination and impulsivity (Gustavson, D. E., Miyake, A., Hewitt, J. K., & Friedman, N. P. (2014). Psychological Science), which was held to support an evolutionary origin of the relationship between the two traits, was tested in data from two large samples of twins from Australia. A genetic correlation of 0.299 was obtained. It was concluded that, although the presence of a genetic correlation between the two traits was supported, the modest magnitude of the correlation was such as to be consistent with many possible hypotheses, evolutionary and otherwise, about causal relationships between the traits in question.

  5. Intelligence and Semen Quality Are Positively Correlated

    Science.gov (United States)

    Arden, Rosalind; Gottfredson, Linda S.; Miller, Geoffrey; Pierce, Arand

    2009-01-01

    Human cognitive abilities inter-correlate to form a positive matrix, from which a large first factor, called "Spearman's g" or general intelligence, can be extracted. General intelligence itself is correlated with many important health outcomes including cardio-vascular function and longevity. However, the important evolutionary question of…

  6. EEG Correlates of Ten Positive Emotions.

    Science.gov (United States)

    Hu, Xin; Yu, Jianwen; Song, Mengdi; Yu, Chun; Wang, Fei; Sun, Pei; Wang, Daifa; Zhang, Dan

    2017-01-01

    Compared with the well documented neurophysiological findings on negative emotions, much less is known about positive emotions. In the present study, we explored the EEG correlates of ten different positive emotions (joy, gratitude, serenity, interest, hope, pride, amusement, inspiration, awe, and love). A group of 20 participants were invited to watch 30 short film clips with their EEGs simultaneously recorded. Distinct topographical patterns for different positive emotions were found for the correlation coefficients between the subjective ratings on the ten positive emotions per film clip and the corresponding EEG spectral powers in different frequency bands. Based on the similarities of the participants' ratings on the ten positive emotions, these emotions were further clustered into three representative clusters, as 'encouragement' for awe, gratitude, hope, inspiration, pride, 'playfulness' for amusement, joy, interest, and 'harmony' for love, serenity. Using the EEG spectral powers as features, both the binary classification on the higher and lower ratings on these positive emotions and the binary classification between the three positive emotion clusters, achieved accuracies of approximately 80% and above. To our knowledge, our study provides the first piece of evidence on the EEG correlates of different positive emotions.

  7. Thinking positively: The genetics of high intelligence

    Science.gov (United States)

    Shakeshaft, Nicholas G.; Trzaskowski, Maciej; McMillan, Andrew; Krapohl, Eva; Simpson, Michael A.; Reichenberg, Avi; Cederlöf, Martin; Larsson, Henrik; Lichtenstein, Paul; Plomin, Robert

    2015-01-01

    High intelligence (general cognitive ability) is fundamental to the human capital that drives societies in the information age. Understanding the origins of this intellectual capital is important for government policy, for neuroscience, and for genetics. For genetics, a key question is whether the genetic causes of high intelligence are qualitatively or quantitatively different from the normal distribution of intelligence. We report results from a sibling and twin study of high intelligence and its links with the normal distribution. We identified 360,000 sibling pairs and 9000 twin pairs from 3 million 18-year-old males with cognitive assessments administered as part of conscription to military service in Sweden between 1968 and 2010. We found that high intelligence is familial, heritable, and caused by the same genetic and environmental factors responsible for the normal distribution of intelligence. High intelligence is a good candidate for “positive genetics” — going beyond the negative effects of DNA sequence variation on disease and disorders to consider the positive end of the distribution of genetic effects. PMID:25593376

  8. An atlas of genetic correlations across human diseases and traits

    DEFF Research Database (Denmark)

    Bulik-Sullivan, Brendan; Finucane, Hilary K; Anttila, Verneri

    2015-01-01

    Identifying genetic correlations between complex traits and diseases can provide useful etiological insights and help prioritize likely causal relationships. The major challenges preventing estimation of genetic correlation from genome-wide association study (GWAS) data with current methods are t...

  9. Absolute GPS Positioning Using Genetic Algorithms

    Science.gov (United States)

    Ramillien, G.

    A new inverse approach for restoring the absolute coordinates of a ground -based station from three or four observed GPS pseudo-ranges is proposed. This stochastic method is based on simulations of natural evolution named genetic algorithms (GA). These iterative procedures provide fairly good and robust estimates of the absolute positions in the Earth's geocentric reference system. For comparison/validation, GA results are compared to the ones obtained using the classical linearized least-square scheme for the determination of the XYZ location proposed by Bancroft (1985) which is strongly limited by the number of available observations (i.e. here, the number of input pseudo-ranges must be four). The r.m.s. accuracy of the non -linear cost function reached by this latter method is typically ~10-4 m2 corresponding to ~300-500-m accuracies for each geocentric coordinate. However, GA can provide more acceptable solutions (r.m.s. errors < 10-5 m2), even when only three instantaneous pseudo-ranges are used, such as a lost of lock during a GPS survey. Tuned GA parameters used in different simulations are N=1000 starting individuals, as well as Pc=60-70% and Pm=30-40% for the crossover probability and mutation rate, respectively. Statistical tests on the ability of GA to recover acceptable coordinates in presence of important levels of noise are made simulating nearly 3000 random samples of erroneous pseudo-ranges. Here, two main sources of measurement errors are considered in the inversion: (1) typical satellite-clock errors and/or 300-metre variance atmospheric delays, and (2) Geometrical Dilution of Precision (GDOP) due to the particular GPS satellite configuration at the time of acquisition. Extracting valuable information and even from low-quality starting range observations, GA offer an interesting alternative for high -precision GPS positioning.

  10. Positive transfer operators and decay of correlations

    CERN Document Server

    Baladi, Viviane

    2000-01-01

    Although individual orbits of chaotic dynamical systems are by definition unpredictable, the average behavior of typical trajectories can often be given a precise statistical description. Indeed, there often exist ergodic invariant measures with special additional features. For a given invariant measure, and a class of observables, the correlation functions tell whether (and how fast) the system "mixes", i.e. "forgets" its initial conditions.This book, addressed to mathematicians and mathematical (or mathematically inclined) physicists, shows how the powerful technology of transfer operators,

  11. A Model for Positively Correlated Count Variables

    DEFF Research Database (Denmark)

    Møller, Jesper; Rubak, Ege Holger

    2010-01-01

    An α-permanental random field is briefly speaking a model for a collection of non-negative integer valued random variables with positive associations. Though such models possess many appealing probabilistic properties, many statisticians seem unaware of α-permanental random fields...... and their potential applications. The purpose of this paper is to summarize useful probabilistic results, study stochastic constructions and simulation techniques, and discuss some examples of α-permanental random fields. This should provide a useful basis for discussing the statistical aspects in future work....

  12. Spurious correlations and inference in landscape genetics

    Science.gov (United States)

    Samuel A. Cushman; Erin L. Landguth

    2010-01-01

    Reliable interpretation of landscape genetic analyses depends on statistical methods that have high power to identify the correct process driving gene flow while rejecting incorrect alternative hypotheses. Little is known about statistical power and inference in individual-based landscape genetics. Our objective was to evaluate the power of causalmodelling with partial...

  13. Genetic correlates of insight in schizophrenia.

    Science.gov (United States)

    Xavier, Rose Mary; Vorderstrasse, Allison; Keefe, Richard S E; Dungan, Jennifer R

    2018-05-01

    Insight in schizophrenia is clinically important as it is associated with several adverse outcomes. Genetic contributions to insight are unknown. We examined genetic contributions to insight by investigating if polygenic risk scores (PRS) and candidate regions were associated with insight. Schizophrenia case-only analysis of the Clinical Antipsychotics Trials of Intervention Effectiveness trial. Schizophrenia PRS was constructed using Psychiatric Genomics Consortium (PGC) leave-one out GWAS as discovery data set. For candidate regions, we selected 105 schizophrenia-associated autosomal loci and 11 schizophrenia-related oligodendrocyte genes. We used regressions to examine PRS associations and set-based testing for candidate analysis. We examined data from 730 subjects. Best-fit PRS at p-threshold of 1e-07 was associated with total insight (R 2 =0.005, P=0.05, empirical P=0.054) and treatment insight (R 2 =0.005, P=0.048, empirical P=0.048). For models that controlled for neurocognition, PRS significantly predicted treatment insight but at higher p-thresholds (0.1 to 0.5) but did not survive correction. Patients with highest polygenic burden had 5.9 times increased risk for poor insight compared to patients with lowest burden. PRS explained 3.2% (P=0.002, empirical P=0.011) of variance in poor insight. Set-based analyses identified two variants associated with poor insight- rs320703, an intergenic variant (within-set P=6e-04, FDR P=0.046) and rs1479165 in SOX2-OT (within-set P=9e-04, FDR P=0.046). To the best of our knowledge, this is the first study examining genetic basis of insight. We provide evidence for genetic contributions to impaired insight. Relevance of findings and necessity for replication are discussed. Copyright © 2017 Elsevier B.V. All rights reserved.

  14. Multi-population Genomic Relationships for Estimating Current Genetic Variances Within and Genetic Correlations Between Populations.

    Science.gov (United States)

    Wientjes, Yvonne C J; Bijma, Piter; Vandenplas, Jérémie; Calus, Mario P L

    2017-10-01

    Different methods are available to calculate multi-population genomic relationship matrices. Since those matrices differ in base population, it is anticipated that the method used to calculate genomic relationships affects the estimate of genetic variances, covariances, and correlations. The aim of this article is to define the multi-population genomic relationship matrix to estimate current genetic variances within and genetic correlations between populations. The genomic relationship matrix containing two populations consists of four blocks, one block for population 1, one block for population 2, and two blocks for relationships between the populations. It is known, based on literature, that by using current allele frequencies to calculate genomic relationships within a population, current genetic variances are estimated. In this article, we theoretically derived the properties of the genomic relationship matrix to estimate genetic correlations between populations and validated it using simulations. When the scaling factor of across-population genomic relationships is equal to the product of the square roots of the scaling factors for within-population genomic relationships, the genetic correlation is estimated unbiasedly even though estimated genetic variances do not necessarily refer to the current population. When this property is not met, the correlation based on estimated variances should be multiplied by a correction factor based on the scaling factors. In this study, we present a genomic relationship matrix which directly estimates current genetic variances as well as genetic correlations between populations. Copyright © 2017 by the Genetics Society of America.

  15. Genetic correlations between body weight change and reproduction traits in Merino ewes depend on age.

    Science.gov (United States)

    Rose, G; Mulder, H A; van der Werf, J H J; Thompson, A N; van Arendonk, J A M

    2014-08-01

    Merino sheep in Australia experience periods of variable feed supply. Merino sheep can be bred to be more resilient to this variation by losing less BW when grazing poor quality pasture and gaining more BW when grazing good quality pasture. Therefore, selection on BW change might be economically attractive but correlations with other traits in the breeding objective need to be known. The genetic correlations (rg) between BW, BW change, and reproduction were estimated using records from approximately 7,350 fully pedigreed Merino ewes managed at Katanning in Western Australia. Number of lambs and total weight of lambs born and weaned were measured on approximately 5,300 2-yr-old ewes, approximately 4,900 3-yr-old ewes, and approximately 3,600 4-yr-old ewes. On a proportion of these ewes BW change was measured: approximately 1,950 2-yr-old ewes, approximately 1,500 3-yr-old ewes, and approximately 1,100 4-yr-old ewes. The BW measurements were for 3 periods. The first period was during mating period over 42 d on poor pasture. The second period was during pregnancy over 90 d for ewes that got pregnant on poor and medium quality pasture. The third period was during lactation over 130 d for ewes that weaned a lamb on good quality pasture. Genetic correlations between weight change and reproduction were estimated within age classes. Genetic correlations were tested to be significantly greater magnitude than 0 using likelihood ratio tests. Nearly all BW had significant positive genetic correlations with all reproduction traits. In 2-yr-old ewes, BW change during the mating period had a positive genetic correlation with number of lambs weaned (rg = 0.58); BW change during pregnancy had a positive genetic correlation with total weight of lambs born (rg = 0.33) and a negative genetic correlation with number of lambs weaned (rg = -0.49). All other genetic correlations were not significantly greater magnitude than 0 but estimates of genetic correlations for 3-yr-old ewes were

  16. Genetic Basis of Positive and Negative Symptom Domains in Schizophrenia.

    Science.gov (United States)

    Xavier, Rose Mary; Vorderstrasse, Allison

    2017-10-01

    Schizophrenia is a highly heritable disorder, the genetic etiology of which has been well established. Yet despite significant advances in genetics research, the pathophysiological mechanisms of this disorder largely remain unknown. This gap has been attributed to the complexity of the polygenic disorder, which has a heterogeneous clinical profile. Examining the genetic basis of schizophrenia subphenotypes, such as those based on particular symptoms, is thus a useful strategy for decoding the underlying mechanisms. This review of literature examines the recent advances (from 2011) in genetic exploration of positive and negative symptoms in schizophrenia. We searched electronic databases PubMed, Web of Science, and Cumulative Index to Nursing and Allied Health Literature using key words schizophrenia, symptoms, positive symptoms, negative symptoms, cognition, genetics, genes, genetic predisposition, and genotype in various combinations. We identified 115 articles, which are included in the review. Evidence from these studies, most of which are genetic association studies, identifies shared and unique gene associations for the symptom domains. Genes associated with neurotransmitter systems and neuronal development/maintenance primarily constitute the shared associations. Needed are studies that examine the genetic basis of specific symptoms within the broader domains in addition to functional mechanisms. Such investigations are critical to developing precision treatment and care for individuals afflicted with schizophrenia.

  17. Neural and Genetic Correlates of the Social Sharing of Happiness

    Science.gov (United States)

    Matsunaga, Masahiro; Kawamichi, Hiroaki; Umemura, Tomohiro; Hori, Reiko; Shibata, Eiji; Kobayashi, Fumio; Suzuki, Kohta; Ishii, Keiko; Ohtsubo, Yohsuke; Noguchi, Yasuki; Ochi, Misaki; Yamasue, Hidenori; Ohira, Hideki

    2017-01-01

    Happiness is regarded as one of the most fundamental human goals. Given recent reports that positive feelings are contagious (e.g., the presence of a happy person enhances others' happiness) because of the human ability to empathize (i.e., sharing emotions), empathic ability may be a key factor in increasing one's own subjective level of happiness. Based on previous studies indicating that a single nucleotide polymorphism in the serotonin 2A receptor gene [HTR2A rs6311 guanine (G) vs. adenine (A)] is associated with sensitivity to emotional stimuli and several mental disorders such as depression, we predicted that the polymorphism might be associated with the effect of sharing happiness. To elucidate the neural and genetic correlates of the effect of sharing happiness, we first performed functional magnetic resonance imaging (fMRI) during a “happy feelings” evocation task (emotional event imagination task), during which we manipulated the valence of the imagined event (positive, neutral, or negative), as well as the presence of a friend experiencing a positive-valence event (presence or absence). We recruited young adult women for this fMRI study because empathic ability may be higher in women than in men. Participants felt happier (p happiness (neutral/presence condition) than those with the AA genotype. In a follow-up study with a vignette-based questionnaire conducted in a relatively large sample, male and female participants were presented with the same imagined events wherein their valence and the presence of a friend were manipulated. Results showed genetic differences in happiness-related empathy regardless of sex (p happiness by modulating the activity of the mentalizing/theory-of-mind network. PMID:29311795

  18. Habitual physical activity levels are positively correlated with CD4 ...

    African Journals Online (AJOL)

    Habitual physical activity levels are positively correlated with CD4 counts in an ... per month) and functional independence as assessed from the responses to the ... and between CD4 cell counts and total habitual physical activity levels (p ...

  19. Local Genetic Correlation Gives Insights into the Shared Genetic Architecture of Complex Traits.

    Science.gov (United States)

    Shi, Huwenbo; Mancuso, Nicholas; Spendlove, Sarah; Pasaniuc, Bogdan

    2017-11-02

    Although genetic correlations between complex traits provide valuable insights into epidemiological and etiological studies, a precise quantification of which genomic regions disproportionately contribute to the genome-wide correlation is currently lacking. Here, we introduce ρ-HESS, a technique to quantify the correlation between pairs of traits due to genetic variation at a small region in the genome. Our approach requires GWAS summary data only and makes no distributional assumption on the causal variant effect sizes while accounting for linkage disequilibrium (LD) and overlapping GWAS samples. We analyzed large-scale GWAS summary data across 36 quantitative traits, and identified 25 genomic regions that contribute significantly to the genetic correlation among these traits. Notably, we find 6 genomic regions that contribute to the genetic correlation of 10 pairs of traits that show negligible genome-wide correlation, further showcasing the power of local genetic correlation analyses. Finally, we report the distribution of local genetic correlations across the genome for 55 pairs of traits that show putative causal relationships. Copyright © 2017 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  20. Estimates of genetic correlations and correlated responses to selection in cashew (Anacardium occidentale L.

    Directory of Open Access Journals (Sweden)

    Diógenes Manoel Pedroza de Azevedo

    1998-09-01

    Full Text Available The present study estimates variances and genetic and phenotypic correlations for five traits in 27 progenies of cashew trees (Anacardium occidentale L.. Data were obtained from a trial conducted in 1992 at Pacajus, Ceará, experimental station of Embrapa Agroindústria Tropical. The characters studied were plant height (PH, North-South and East-West canopy spreads (NSS, EWS, and primary and secondary branch numbers (PBN, SBN. All genetic and phenotypic correlations presented positive and significant values. Selection to increase or decrease the average of any one of the five characteristics of cashew plants in the progenies studied affected the average of the others. The 16-month-old canopy spread can be predicted from NSS or EWS since correlations between them were high. Correlations between PH and SBN were low, indicating that there is a good possibility of obtaining smaller plants without causing drastic reductions in SBN. PH and SBN showed, respectively, the lowest and highest genetic variance estimates relative to the corresponding population means.Neste trabalho são estimadas variâncias, correlações genéticas e fenotípicas e respostas correlacionadas, envolvendo cinco caracteres em 27 progênies de cajueiro (Anacardium occidentale L.. Os dados foram obtidos em Pacajus-CE, num ensaio conduzido no Campo Experimental da Embrapa Agroindústria Tropical, em l992. Os caracteres estudados foram altura de planta (PH, envergaduras norte-sul (NSS e leste-oeste (EWS e número de ramos primários (PBN e secundários (SBN. Todas as correlacões genéticas e fenotípicas obtidas foram positivas e significativas. A seleção para aumentar ou reduzir a média de qualquer um dos cinco caracteres estudados nas progênies de cajueiro afetou indiretamente a média dos outros quatro caracteres. A envergadura da copa aos 16 meses pode ser representada por NSS ou EWS, tendo em vista que a correlação entre elas foi elevada. As correlações envolvendo PH

  1. Prevalence and correlates of positive mental health in Chinese adolescents.

    Science.gov (United States)

    Guo, Cheng; Tomson, Göran; Keller, Christina; Söderqvist, Fredrik

    2018-02-17

    Studies investigating the prevalence of positive mental health and its correlates are still scarce compared to the studies on mental disorders, although there is growing interest of assessing positive mental health in adolescents. So far, no other study examining the prevalence and determinants of positive mental health in Chinese adolescents has been found. The purpose of this study was to assess the prevalence and correlates of positive mental health in Chinese adolescents. This cross-sectional study used a questionnaire including Mental Health Continuum-Short Form (MHC-SF) and items regarding multiple aspects of adolescent life. The sample involved a total of 5399 students from grade 8 and 10 in Weifang, China. Multivariate Logistic regression analyses were performed to evaluate the associations between potential indicators regarding socio-economic situations, life style, social support and school life and positive mental health and calculate odds ratios and 95% confidence intervals. More than half (57.4%) of the participants were diagnosed as flourishing. The correlated factors of positive mental health in regression models included gender, perceived family economy, the occurrence of sibling(s), satisfaction of self-appearance, physical activity, sleep quality, stress, social trust, desire to learn, support from teachers and parents as well as whether being bullied at school (OR ranging from 1.23 to 2.75). The Hosmer-Lemeshow p-value for the final regression model (0.45) indicated adequate model fit. This study gives the first overview on prevalence and correlates of positive mental health in Chinese adolescents. The prevalence of positive mental health in Chinese adolescents is higher than reported in most of the previous studies also using MHC-SF. Our findings suggest that adolescents with advantageous socio-economic situations, life style, social support and school life are experiencing better positive mental health than others.

  2. A hybrid correlation analysis with application to imaging genetics

    Science.gov (United States)

    Hu, Wenxing; Fang, Jian; Calhoun, Vince D.; Wang, Yu-Ping

    2018-03-01

    Investigating the association between brain regions and genes continues to be a challenging topic in imaging genetics. Current brain region of interest (ROI)-gene association studies normally reduce data dimension by averaging the value of voxels in each ROI. This averaging may lead to a loss of information due to the existence of functional sub-regions. Pearson correlation is widely used for association analysis. However, it only detects linear correlation whereas nonlinear correlation may exist among ROIs. In this work, we introduced distance correlation to ROI-gene association analysis, which can detect both linear and nonlinear correlations and overcome the limitation of averaging operations by taking advantage of the information at each voxel. Nevertheless, distance correlation usually has a much lower value than Pearson correlation. To address this problem, we proposed a hybrid correlation analysis approach, by applying canonical correlation analysis (CCA) to the distance covariance matrix instead of directly computing distance correlation. Incorporating CCA into distance correlation approach may be more suitable for complex disease study because it can detect highly associated pairs of ROI and gene groups, and may improve the distance correlation level and statistical power. In addition, we developed a novel nonlinear CCA, called distance kernel CCA, which seeks the optimal combination of features with the most significant dependence. This approach was applied to imaging genetic data from the Philadelphia Neurodevelopmental Cohort (PNC). Experiments showed that our hybrid approach produced more consistent results than conventional CCA across resampling and both the correlation and statistical significance were increased compared to distance correlation analysis. Further gene enrichment analysis and region of interest (ROI) analysis confirmed the associations of the identified genes with brain ROIs. Therefore, our approach provides a powerful tool for finding

  3. Genetic and Environmental Basis in Phenotype Correlation Between Physical Function and Cognition in Aging Chinese Twins

    DEFF Research Database (Denmark)

    Xu, Chunsheng; Zhang, Dongfeng; Tian, Xiaocao

    2017-01-01

    for cognition with handgrip strength, FTSST, near visual acuity, and number of teeth lost. Cognitive function was genetically related to pulmonary function. The FTSST and cognition shared almost the same common environmental factors but only part of the unique environmental factors, both with negative......Although the correlation between cognition and physical function has been well studied in the general population, the genetic and environmental nature of the correlation has been rarely investigated. We conducted a classical twin analysis on cognitive and physical function, including forced...... and cognitive function. Bivariate analysis showed mildly positively genetic correlations between cognition and FEV1, r G = 0.23 [95% CI: 0.03, 0.62], as well as FVC, r G = 0.35 [95% CI: 0.06, 1.00]. We found that FTSST and cognition presented very high common environmental correlation, r C = -1.00 [95% CI: -1...

  4. Heritability of rectal temperature and genetic correlations with production and reproduction traits in dairy cattle.

    Science.gov (United States)

    Dikmen, S; Cole, J B; Null, D J; Hansen, P J

    2012-06-01

    Genetic selection for body temperature during heat stress might be a useful approach to reduce the magnitude of heat stress effects on production and reproduction. Objectives of the study were to estimate the genetic parameters of rectal temperature (RT) in dairy cows in freestall barns under heat stress conditions and to determine the genetic and phenotypic correlations of rectal temperature with other traits. Afternoon RT were measured in a total of 1,695 lactating Holstein cows sired by 509 bulls during the summer in North Florida. Genetic parameters were estimated with Gibbs sampling, and best linear unbiased predictions of breeding values were predicted using an animal model. The heritability of RT was estimated to be 0.17 ± 0.13. Predicted transmitting abilities for rectal temperature changed 0.0068 ± 0.0020°C/yr from (birth year) 2002 to 2008. Approximate genetic correlations between RT and 305-d milk, fat, and protein yields, productive life, and net merit were significant and positive, whereas approximate genetic correlations between RT and somatic cell count score and daughter pregnancy rate were significant and negative. Rectal temperature during heat stress has moderate heritability, but genetic correlations with economically important traits mean that selection for RT could lead to lower productivity unless methods are used to identify genes affecting RT that do not adversely affect other traits of economic importance. Copyright © 2012 American Dairy Science Association. Published by Elsevier Inc. All rights reserved.

  5. Neural and Genetic Correlates of the Social Sharing of Happiness

    Directory of Open Access Journals (Sweden)

    Masahiro Matsunaga

    2017-12-01

    Full Text Available Happiness is regarded as one of the most fundamental human goals. Given recent reports that positive feelings are contagious (e.g., the presence of a happy person enhances others' happiness because of the human ability to empathize (i.e., sharing emotions, empathic ability may be a key factor in increasing one's own subjective level of happiness. Based on previous studies indicating that a single nucleotide polymorphism in the serotonin 2A receptor gene [HTR2A rs6311 guanine (G vs. adenine (A] is associated with sensitivity to emotional stimuli and several mental disorders such as depression, we predicted that the polymorphism might be associated with the effect of sharing happiness. To elucidate the neural and genetic correlates of the effect of sharing happiness, we first performed functional magnetic resonance imaging (fMRI during a “happy feelings” evocation task (emotional event imagination task, during which we manipulated the valence of the imagined event (positive, neutral, or negative, as well as the presence of a friend experiencing a positive-valence event (presence or absence. We recruited young adult women for this fMRI study because empathic ability may be higher in women than in men. Participants felt happier (p < 0.01 and the mentalizing/theory-of-mind network, which spans the medial prefrontal cortex, temporoparietal junction, temporal poles, and precuneus, was significantly more active (p < 0.05 in the presence condition than in the absence condition regardless of event valence. Moreover, participants with the GG (p < 0.01 and AG (p < 0.05 genotypes of HTR2A experienced happier feelings as well as greater activation of a part of the mentalizing/theory-of-mind network (p < 0.05 during empathy for happiness (neutral/presence condition than those with the AA genotype. In a follow-up study with a vignette-based questionnaire conducted in a relatively large sample, male and female participants were presented with the same

  6. Positive-operator-valued measure optimization of classical correlations

    NARCIS (Netherlands)

    Hamieh, S; Kobes, R; Zaraket, H

    We study the problem of optimization over positive-operator-valued measures to extract classical correlation in a bipartite quantum system. The proposed method is applied to binary states only. Moreover, to illustrate this method, an explicit example is studied in detail.

  7. Genetic correlations among and between wool, growth and reproduction traits in Merino sheep.

    Science.gov (United States)

    Safari, E; Fogarty, N M; Gilmour, A R; Atkins, K D; Mortimer, S I; Swan, A A; Brien, F D; Greeff, J C; van der Werf, J H J

    2007-04-01

    Data from seven research resource flocks across Australia were combined to provide accurate estimates of genetic correlations among production traits in Merino sheep. The flocks represented contemporary Australian Merino fine, medium and broad wool strains over the past 30 years. Over 110,000 records were available for analysis for each of the major wool traits, and 50,000 records for reproduction and growth traits with over 2700 sires and 25,000 dams. Individual models developed from the single trait analyses were extended to the various combinations of two-trait models to obtain genetic correlations among six wool traits [clean fleece weight (CFW), greasy fleece weight, fibre diameter (FD), yield, coefficient of variation of fibre diameter and standard deviation of fibre diameter], four growth traits [birth weight, weaning weight, yearling weight (YWT), and hogget weight] and four reproduction traits [fertility, litter size, lambs born per ewe joined, lambs weaned per ewe joined (LW/EJ)]. This study has provided for the first time a comprehensive matrix of genetic correlations among these 14 wool, growth and reproduction traits. The large size of the data set has also provided estimates with very low standard errors. A moderate positive genetic correlation was observed between CFW and FD (0.29 +/- 0.02). YWT was positively correlated with CFW (0.23 +/- 0.04), FD (0.17 +/- 0.04) and LWEJ (0.58 +/- 0.06), while LW/EJ was negatively correlated with CFW (-0.26 +/- 0.05) and positively correlated with FD (0.06 +/- 0.04) and LS (0.68 +/- 0.04). These genetic correlations, together with the estimates of heritability and other parameters provide the basis for more accurate prediction of outcomes in complex sheep-breeding programmes designed to improve several traits.

  8. non-genetic factors and correlation studies in cattle.

    African Journals Online (AJOL)

    Bivariate and multivariate analyses fitting an animal model, were conducted by means of (ASREML) ... aggregate genetic improvement in beef cattle is most ..... This trend was observed in the present study. .... effects hence the prediction of correlated responses to ... the shape of the growth curve as an animal can be.

  9. Lack of Correlation Between External Fiducial Positions and Internal Tumor Positions During Breath-Hold CT

    International Nuclear Information System (INIS)

    Hunjan, Sandeep; Starkschall, George; Prado, Karl; Dong Lei; Balter, Peter

    2010-01-01

    Purpose: For thoracic tumors, if four-dimensional computed tomography (4DCT) is unavailable, the internal margin can be estimated by use of breath-hold (BH) CT scans acquired at end inspiration (EI) and end expiration (EE). By use of external surrogates for tumor position, BH accuracy is estimated by minimizing the difference between respiratory extrema BH and mean equivalent-phase free breathing (FB) positions. We tested the assumption that an external surrogate for BH accuracy correlates with internal tumor positional accuracy during BH CT. Methods and Materials: In 16 lung cancer patients, 4DCT images, as well as BH CT images at EI and EE, were acquired. Absolute differences between BH and mean equivalent-phase (FB) positions were calculated for both external fiducials and gross tumor volume (GTV) centroids as metrics of external and internal BH accuracy, respectively, and the results were correlated. Results: At EI, the absolute difference between mean FB and BH fiducial displacement correlated poorly with the absolute difference between FB and BH GTV centroid positions on CT images (R 2 = 0.11). Similarly, at EE, the absolute difference between mean FB and BH fiducial displacements correlated poorly with the absolute difference between FB and BH GTV centroid positions on CT images (R 2 = 0.18). Conclusions: External surrogates for tumor position are not an accurate metric of BH accuracy for lung cancer patients. This implies that care should be taken when using such an approach because an incorrect internal margin could be generated.

  10. Facial averageness and genetic quality: Testing heritability, genetic correlation with attractiveness, and the paternal age effect.

    Science.gov (United States)

    Lee, Anthony J; Mitchem, Dorian G; Wright, Margaret J; Martin, Nicholas G; Keller, Matthew C; Zietsch, Brendan P

    2016-01-01

    Popular theory suggests that facial averageness is preferred in a partner for genetic benefits to offspring. However, whether facial averageness is associated with genetic quality is yet to be established. Here, we computed an objective measure of facial averageness for a large sample ( N = 1,823) of identical and nonidentical twins and their siblings to test two predictions from the theory that facial averageness reflects genetic quality. First, we use biometrical modelling to estimate the heritability of facial averageness, which is necessary if it reflects genetic quality. We also test for a genetic association between facial averageness and facial attractiveness. Second, we assess whether paternal age at conception (a proxy of mutation load) is associated with facial averageness and facial attractiveness. Our findings are mixed with respect to our hypotheses. While we found that facial averageness does have a genetic component, and a significant phenotypic correlation exists between facial averageness and attractiveness, we did not find a genetic correlation between facial averageness and attractiveness (therefore, we cannot say that the genes that affect facial averageness also affect facial attractiveness) and paternal age at conception was not negatively associated with facial averageness. These findings support some of the previously untested assumptions of the 'genetic benefits' account of facial averageness, but cast doubt on others.

  11. Genetic parameters, phenotypic, genotypic and environmental correlations and genetic variability on sunflower in the Brazilian Savannah

    Directory of Open Access Journals (Sweden)

    Ellen Grippi Lira

    Full Text Available ABSTRACT: Sunflower (Helianthus annuus L. is an annual crop that stands out for its production of high quality oil and for an efficient selection, being necessary to estimate the components of genetic and phenotypic variance. This study aimed to estimate genetic parameters, phenotypic, genotypic and environmental correlations and genetic variability on sunflower in the Brazilian Savannah, evaluating the characters grain yield (YIELD, days to start flowering (DFL based on flowering date in R5, chapter length (CL, weight of a thousand achenes (WTA, plant height (H and oil content (OilC of 16 sunflower genotypes. The experiment was conducted at Embrapa Cerrados, Planaltina, DF, situated at 15º 35’ 30”S latitude, 47º 42’ 30”W longitude and 1.007m above sea level, in soil classified as dystroferric Oxisol. The experimental design used was a complete randomized block with four replicates. The nature for the effects of genotypes and blocks was fixed. Except for the character chapter length, genetic variance was the main component of the phenotypic variance among the genotypes, indicating high genetic variability and experimental efficiency with proper environmental control. In absolute terms, the genetic correlations were superior to phenotypic and environmental. The high values reported for heritability and selective accuracy indicated efficiency of phenotypic selection. Results showed high genetic variability among genotypes, which may contribute to the genetic improvement of sunflower.

  12. Mitochondrial respiratory efficiency is positively correlated with human sperm motility.

    Science.gov (United States)

    Ferramosca, Alessandra; Provenzano, Sara Pinto; Coppola, Lamberto; Zara, Vincenzo

    2012-04-01

    To correlate sperm mitochondrial respiratory efficiency with variations in sperm motility and with sperm morphologic anomalies. Sperm mitochondrial respiratory activity was evaluated with a polarographic assay of oxygen consumption carried out in hypotonically-treated sperm cells. A possible relationship among sperm mitochondrial respiratory efficiency, sperm motility, and morphologic anomalies was investigated. Mitochondrial respiratory efficiency was positively correlated with sperm motility and negatively correlated with the percentage of immotile spermatozoa. Moreover, midpiece defects impaired mitochondrial functionality. Our data indicate that an increase in sperm motility requires a parallel increase in mitochondrial respiratory capacity, thereby supporting the fundamental role played by mitochondrial oxidative phosphorylation in sperm motility of normozoospermic subjects. These results are of physiopathological relevance because they suggest that disturbances of sperm mitochondrial function and of energy production could be responsible for asthenozoospermia. Copyright © 2012 Elsevier Inc. All rights reserved.

  13. Positive Noise Cross Correlation in a Copper Pair Splitter.

    Science.gov (United States)

    Das, Anindya; Ronen, Yuval; Heiblum, Moty; Shtrikman, Hadas; Mahalu, Diana

    2012-02-01

    Entanglement is in heart of the Einstein-Podolsky-Rosen (EPR) paradox, in which non-locality is a fundamental property. Up to date spin entanglement of electrons had not been demonstrated. Here, we provide direct evidence of such entanglement by measuring: non-local positive current correlation and positive cross correlation among current fluctuations, both of separated electrons born by a Cooper-pair-beam-splitter. The realization of the splitter is provided by injecting current from an Al superconductor contact into two, single channel, pure InAs nanowires - each intercepted by a Coulomb blockaded quantum dot (QD). The QDs impedes strongly the flow of Cooper pairs allowing easy single electron transport. The passage of electron in one wire enables the simultaneous passage of the other in the neighboring wire. The splitting efficiency of the Cooper pairs (relative to Cooper pairs actual current) was found to be ˜ 40%. The positive cross-correlations in the currents and their fluctuations (shot noise) are fully consistent with entangled electrons produced by the beam splitter.

  14. Heritability, genetic advance and correlation studies of some important traits in rice

    International Nuclear Information System (INIS)

    Bughio, H.R.; Asad, M.A.; Arain, M.A.; Bughio, M.S.

    2009-01-01

    Genetic variability, estimates of broad sense heritability, genetic advance as percent of mean and genotypic and phenotypic correlation coefficients were observed in eight rice genotypes at Nuclear Institute of Agriculture, Tando Jam in 2005. High heritability coupled with high genetic advance was exhibited for number of fertile grains per panicle, number of productive tillers per plant and grain yield per plant, indicating additive gene action and possibility of improving these traits by simple selection. High heritability with moderate genetic advance was exhibited for plant height, 1000-grain weight and panicle length indicating the involvement of additive and non-additive type of gene action and postponement of selection programs for the improvement of these traits. The characters productive tillers per plant, panicle length, number of fertile grains per panicle, panicle fertility percentage and 1000-grain weight showed significant positive correlation with grain yield per plant. While plant height and days to 50% flowering were observed non-significant and negatively correlated with grain yield per plant. Fertile grain had significant and positive correlation with panicle fertility percentage. (author)

  15. A systematic review of the neural correlates of positive emotions

    Directory of Open Access Journals (Sweden)

    Leonardo Machado

    Full Text Available Objective: To conduct a systematic literature review of human studies reporting neural correlates of positive emotions. Methods: The PubMed and Web of Science databases were searched in January 2016 for scientific papers written in English. No restrictions were placed on year of publication. Results: Twenty-two articles were identified and 12 met the established criteria. Five had been published during the last 4 years. Formation and regulation of positive emotions, including happiness, are associated with significant reductions in activity in the right prefrontal cortex and bilaterally in the temporoparietal cortex, as well as with increased activity in the left prefrontal regions. They are also associated with increased activity in the cingulate gyrus, inferior and middle temporal gyri, amygdalae, and ventral striatum. Conclusion: It is too early to claim that there is an established understanding of the neuroscience of positive emotions and happiness. However, despite overlap in the brain regions involved in the formation and regulation of positive and negative emotions, we can conclude that positive emotions such as happiness activate specific brain regions.

  16. Spatial correlation genetic algorithm for fractal image compression

    International Nuclear Information System (INIS)

    Wu, M.-S.; Teng, W.-C.; Jeng, J.-H.; Hsieh, J.-G.

    2006-01-01

    Fractal image compression explores the self-similarity property of a natural image and utilizes the partitioned iterated function system (PIFS) to encode it. This technique is of great interest both in theory and application. However, it is time-consuming in the encoding process and such drawback renders it impractical for real time applications. The time is mainly spent on the search for the best-match block in a large domain pool. In this paper, a spatial correlation genetic algorithm (SC-GA) is proposed to speed up the encoder. There are two stages for the SC-GA method. The first stage makes use of spatial correlations in images for both the domain pool and the range pool to exploit local optima. The second stage is operated on the whole image to explore more adequate similarities if the local optima are not satisfied. With the aid of spatial correlation in images, the encoding time is 1.5 times faster than that of traditional genetic algorithm method, while the quality of the retrieved image is almost the same. Moreover, about half of the matched blocks come from the correlated space, so fewer bits are required to represent the fractal transform and therefore the compression ratio is also improved

  17. Evaluation of mature cow weight: genetic correlations with traits used in selection indices, correlated responses, and genetic trends in Nelore cattle.

    Science.gov (United States)

    Boligon, A A; Carvalheiro, R; Albuquerque, L G

    2013-01-01

    Genetic correlations of selection indices and the traits considered in these indices with mature weight (MW) of Nelore females and correlated responses were estimated to determine whether current selection practices will result in an undesired correlated response in MW. Genetic trends for weaning and yearling indices and MW were also estimated. Data from 612,244 Nelore animals born between 1984 and 2010, belonging to different beef cattle evaluation programs from Brazil and Paraguay, were used. The following traits were studied: weaning conformation (WC), weaning precocity (WP), weaning muscling (WM), yearling conformation (YC), yearling precocity (YP), yearling muscling (YM), weaning and yearling indices, BW gain from birth to weaning (BWG), postweaning BW gain (PWG), scrotal circumference (SC), and MW. The variance and covariance components were estimated by Bayesian inference in a multitrait analysis, including all traits in the same analysis, using a nonlinear (threshold) animal model for visual scores and a linear animal model for the other traits. The mean direct heritabilities were 0.21±0.007 (WC), 0.22±0.007 (WP), 0.20±0.007 (WM), 0.43±0.005 (YC), 0.40±0.005 (YP), 0.40±0.005 (YM), 0.17±0.003 (BWG), 0.21±0.004 (PWG), 0.32±0.001 (SC), and 0.44±0.018 (MW). The genetic correlations between MW and weaning and yearling indices were positive and of medium magnitude (0.30±0.01 and 0.31±0.01, respectively). The genetic changes in weaning index, yearling index, and MW, expressed as units of genetic SD per year, were 0.26, 0.27, and 0.01, respectively. The genetic trend for MW was nonsignificant, suggesting no negative correlated response. The selection practice based on the use of sires with high final index giving preference for those better ranked for yearling precocity and muscling than for conformation generates only a minimal correlated response in MW.

  18. Birth Characteristics and Childhood Leukemia Risk: Correlations With Genetic Markers.

    Science.gov (United States)

    Kennedy, Amy E; Kamdar, Kala Y; Lupo, Philip J; Okcu, Mehmet F; Scheurer, Michael E; Dorak, Mehmet T

    2015-07-01

    Birth characteristics such as birth order, birth weight, birth defects, and Down syndrome showed some of the first risk associations with childhood leukemia. Examinations of correlations between birth characteristics and leukemia risk markers have been limited to birth weight-related genetic polymorphisms. We integrated information on nongenetic and genetic markers by evaluating the relationship of birth characteristics, genetic markers for childhood acute lymphoblastic leukemia (ALL) susceptibility, and ALL risk together. The multiethnic study consisted of cases with childhood ALL (n=161) and healthy controls (n=261). Birth characteristic data were collected through questionnaires, and genotyping was achieved by TaqMan SNP Genotyping Assays. We observed risk associations for birth weight over 4000 g (odds ratios [OR]=1.93; 95% confidence interval [CI], 1.16-3.19), birth length (OR=1.18 per inch; 95% CI, 1.01-1.38), and with gestational age (OR=1.10 per week; 95% CI, 1.00-1.21). Only the HFE tag single-nucleotide polymorphism (SNP) rs9366637 showed an inverse correlation with a birth characteristic, gestational age, with a gene-dosage effect (P=0.005), and in interaction with a transferrin receptor rs3817672 genotype (Pinteraction=0.05). This correlation translated into a strong association for rs9366637 with preterm birth (OR=5.0; 95% CI, 1.19-20.9). Our study provides evidence for the involvement of prenatal events in the development of childhood ALL. The inverse correlation of rs9366637 with gestational age has implications on the design of HFE association studies in birth weight and childhood conditions using full-term newborns as controls.

  19. Population genetic segmentation of MHC-correlated perfume preferences.

    Science.gov (United States)

    Hämmerli, A; Schweisgut, C; Kaegi, M

    2012-04-01

    It has become difficult to find a matching perfume. An overwhelming number of 300 new perfumes launch each year, and marketing campaigns target pre-defined groups based on gender, age or income rather than on individual preferences. Recent evidence for a genetic basis of perfume preferences, however, could be the starting point for a novel population genetic approach to better match perfumes with people's preferences. With a total of 116 participants genotyped for alleles of three loci of the major histocompatibility complex (MHC), the aim of this study was to test whether common MHC alleles could be used as genetic markers to segment a given population into preference types. Significant deviations from random expectations for a set of 10 common perfume ingredients indicate how such segmentation could be achieved. In addition, preference patterns of participants confronted with images that contained a sexual communication context significantly differed in their ratings for some of the scents compared with participants confronted with images of perfume bottles. This strongly supports the assumption that genetically correlated perfume preferences evolved in the context of sexual communication. The results are discussed in the light of perfume customization. © 2011 The Authors. ICS © 2011 Society of Cosmetic Scientists and the Société Française de Cosmétologie.

  20. Positive Correlation of Resistin with Blood Lipids in Gestational Diabetes

    Directory of Open Access Journals (Sweden)

    Z Zare

    2014-03-01

    Full Text Available Background &Objective: Resistin is an important adipokin, secreted from adipocytes and causes insulin resistance. Gestational diabetes (GDM is characterized by insulin resistance in insulin target tissues. The goal of this research was to investigate whether there is a relationship among resistin and various clinical and metabolic parameters in GDM.Materials & Methods: 76 pregnant women who got the diagnosis of GDM were enrolled as the study group. 70 gestational age-matched pregnant women with normal glucose tolerance were recruited as the control group of the study. Serum resistin concentration, in addition to various metabolic and biochemical parameters, were measured in two groups.Results: Plasma resistin was not significantly different in GDM patients and subjects with normal glucose tolerance. Correlation analysis revealed that LDL cholesterol, total cholesterol and triglyceride were positively correlated with plasma resistin (P < 0.004, 0.01, and 0.02, respectively.Conclusion: Plasma resistin is correlated with insulin resistance, high serum LDL cholesterol, total cholesterol and TG in the Iranian GDM patients.

  1. Eosinophil count is positively correlated with coronary artery calcification

    International Nuclear Information System (INIS)

    Tanaka, Muhei; Fukui, Michiaki; Yamasaki, Masahiro; Hasegawa, Goji; Oda, Yohei; Nakamura, Naoto; Tomiyasu, Ki-ichiro; Akabame, Satoshi; Nakano, Koji

    2012-01-01

    Recent studies suggested that allergic disorders and increased eosinophil count were associated with atherosclerosis. The purpose of this study was to assess the relationship between eosinophil count and coronary artery calcification (CAC). We performed a cross-sectional study in 1363 consecutive participants with clinical suspicion of coronary heart disease (CHD). We evaluated the relationships between CAC score determined by multislice CT and peripheral eosinophil count as well as major cardiovascular risk factors, including age, body mass index, smoking status, hypertension, dyslipidemia, diabetes mellitus (DM), high-sensitivity C-reactive protein and estimated glomerular filtration rate (eGFR). Sex (P=0.0004), hypertension (P=0.0002), dyslipidemia (P=0.0004) and DM (P=0.0061) were associated with log (CAC+1), respectively. Positive correlations were found between log (CAC+1), and age (r=0.325, P<0.0001) and eosinophil count (r=0.165, P<0.0001). Negative correlations were found between log (CAC+1) and eGFR (r=-0.166, P<0.0001). Multivariate linear regression analysis demonstrated that age (β=0.314, P<0.0001), sex (β=0.124, P<0.0001), hypertension (β=0.084, P=0.0008), DM (β=0.108, P<0.0001), eGFR (β=-0.079, P=0.0021) and eosinophil count (β=0.147, P<0.0001) were independent determinants of log (CAC+1). In conclusion, eosinophil count correlated positively with CAC in participants with clinical suspicion of CHD. (author)

  2. Correlation between genetic and geographic structure in Europe

    DEFF Research Database (Denmark)

    Lao, Oscar; Lu, Timothy T; Nothnagel, Michael

    2008-01-01

    geographic but narrow genomic coverage [1, 2], or vice versa [3-6]. We therefore investigated Affymetrix GeneChip 500K genotype data from 2,514 individuals belonging to 23 different subpopulations, widely spread over Europe. Although we found only a low level of genetic differentiation between subpopulations......, the existing differences were characterized by a strong continent-wide correlation between geographic and genetic distance. Furthermore, mean heterozygosity was larger, and mean linkage disequilibrium smaller, in southern as compared to northern Europe. Both parameters clearly showed a clinal distribution...... Europe. By including the widely used CEPH from Utah (CEU) samples into our analysis, we could show that these individuals represent northern and western Europeans reasonably well, thereby confirming their assumed regional ancestry....

  3. Significant Locus and Metabolic Genetic Correlations Revealed in Genome-Wide Association Study of Anorexia Nervosa.

    Science.gov (United States)

    Duncan, Laramie; Yilmaz, Zeynep; Gaspar, Helena; Walters, Raymond; Goldstein, Jackie; Anttila, Verneri; Bulik-Sullivan, Brendan; Ripke, Stephan; Thornton, Laura; Hinney, Anke; Daly, Mark; Sullivan, Patrick F; Zeggini, Eleftheria; Breen, Gerome; Bulik, Cynthia M

    2017-09-01

    The authors conducted a genome-wide association study of anorexia nervosa and calculated genetic correlations with a series of psychiatric, educational, and metabolic phenotypes. Following uniform quality control and imputation procedures using the 1000 Genomes Project (phase 3) in 12 case-control cohorts comprising 3,495 anorexia nervosa cases and 10,982 controls, the authors performed standard association analysis followed by a meta-analysis across cohorts. Linkage disequilibrium score regression was used to calculate genome-wide common variant heritability (single-nucleotide polymorphism [SNP]-based heritability [h 2 SNP ]), partitioned heritability, and genetic correlations (r g ) between anorexia nervosa and 159 other phenotypes. Results were obtained for 10,641,224 SNPs and insertion-deletion variants with minor allele frequencies >1% and imputation quality scores >0.6. The h 2 SNP of anorexia nervosa was 0.20 (SE=0.02), suggesting that a substantial fraction of the twin-based heritability arises from common genetic variation. The authors identified one genome-wide significant locus on chromosome 12 (rs4622308) in a region harboring a previously reported type 1 diabetes and autoimmune disorder locus. Significant positive genetic correlations were observed between anorexia nervosa and schizophrenia, neuroticism, educational attainment, and high-density lipoprotein cholesterol, and significant negative genetic correlations were observed between anorexia nervosa and body mass index, insulin, glucose, and lipid phenotypes. Anorexia nervosa is a complex heritable phenotype for which this study has uncovered the first genome-wide significant locus. Anorexia nervosa also has large and significant genetic correlations with both psychiatric phenotypes and metabolic traits. The study results encourage a reconceptualization of this frequently lethal disorder as one with both psychiatric and metabolic etiology.

  4. A neutral theory for interpreting correlations between species and genetic diversity in communities.

    Science.gov (United States)

    Laroche, Fabien; Jarne, Philippe; Lamy, Thomas; David, Patrice; Massol, Francois

    2015-01-01

    Spatial patterns of biological diversity have been extensively studied in ecology and population genetics, because they reflect the forces acting on biodiversity. A growing number of studies have found that genetic (within-species) and species diversity can be correlated in space (the so-called species-gene diversity correlation [SGDC]), which suggests that they are controlled by nonindependent processes. Positive SGDCs are generally assumed to arise from parallel responses of genetic and species diversity to variation in site size and connectivity. However, this argument implicitly assumes a neutral model that has yet to be developed. Here, we build such a model to predict SGDC in a metacommunity. We describe how SGDC emerges from competition within sites and variation in connectivity and carrying capacity among sites. We then introduce the formerly ignored mutation process, which affects genetic but not species diversity. When mutation rate is low, our model confirms that variation in the number of migrants among sites creates positive SGDCs. However, when considering high mutation rates, interactions between mutation, migration, and competition can produce negative SGDCs. Neutral processes thus do not always contribute positively to SGDCs. Our approach provides empirical guidelines for interpreting these novel patterns in natura with respect to evolutionary and ecological forces shaping metacommunities.

  5. 147 - 154 Genetic Variability, Heritability and Correlation Coefficient

    African Journals Online (AJOL)

    USER

    twelve upland rice genotypes during 2013 main cropping season. ... spikelet per panicle, number of filled grains per panicle and biomass yield had a positive and significant correlation ... fertilizers were applied at the rate of 100 kg per hectare. ..... ultimate effect for selecting superior varieties (Ali et al., .... (Brassica napus L.).

  6. Serum uric acid levels correlate with benign paroxysmal positional vertigo.

    Science.gov (United States)

    Celikbilek, A; Gencer, Z K; Saydam, L; Zararsiz, G; Tanik, N; Ozkiris, M

    2014-01-01

    Benign paroxysmal positional vertigo (BPPV) is a frequently encountered condition that can severely affect the quality of life. In this study, we aimed to assess the possible relations between serum uric acid (SUA) levels and BPPV. Fifty patients with BPPV, and 40 age- and sex-matched control subjects were enrolled in the study. All the patients and controls underwent a complete audio-vestibular test battery including the Dix-Hallpike maneuver and supine roll test for posterior semicircular canal (PSC) and horizontal semicircular canal, respectively. Routine hematological and biochemical analyses were performed in both groups. In the BPPV group, measurements of SUA levels were repeated 1 month after the vertigo attack. The lipid profiles and SUA levels were higher in patients with BPPV than detected in controls (P multiple logistic regression models (P decrement in SUA level 1 month after the vertigo attack compared with the values obtained during the attack (P 0.05). Elevated SUA is positively correlated with BPPV, requiring further efforts to clarify the exact mechanism. © 2013 The Author(s) European Journal of Neurology © 2013 EFNS.

  7. Genetic correlations between conformation traits and radiographic findings in the limbs of German Warmblood riding horses

    Directory of Open Access Journals (Sweden)

    Distl Ottmar

    2006-11-01

    Full Text Available Abstract Studbook inspection (SBI data of 20 768 German Warmblood mares and radiography results (RR data of 5102 Hanoverian Warmblood horses were used for genetic correlation analyses. The scores on a scale from 0 to 10 were given for conformation and basic quality of gaits, resulting in 14 SBI traits which were used for the correlation analyses. The radiographic findings considered included osseous fragments in fetlock (OFF and hock joints (OFH, deforming arthropathy in hock joints (DAH and distinct radiographic findings in the navicular bones (DNB which were analyzed as binary traits, and radiographic appearance of the navicular bones (RNB which was analyzed as a quasi-linear trait. Genetic parameters were estimated multivariately in linear animal models with REML using information on 24 448 horses with SBI and/or RR records. The ranges of heritability estimates were h2 = 0.14–0.34 for the RR traits and h2 = 0.09–0.50 for the SBI traits. Negative additive genetic correlations of rg = -0.19 to -0.56 were estimated between OFF and conformation of front and hind limbs and walk at hand, and between DNB and hind limb conformation. There were indications of negative additive genetic correlations between DAH and all SBI traits, but because of low prevalence and low heritability of DAH, these results require further scrutiny. Positive additive genetic correlations of rg = 0.37–0.52 were estimated between OFF and withers height and between OFH and withers height, indicating that selection for taller horses will increase disposition to develop OFF and OFH. Selection of broodmares with regards to functional conformation will assist, but cannot replace possible selection against radiographic findings in the limbs of young Warmblood riding horses, particularly with regards to OFF.

  8. GONOME: measuring correlations between GO terms and genomic positions

    Directory of Open Access Journals (Sweden)

    Bailey Timothy L

    2006-02-01

    Full Text Available Abstract Background: Current methods to find significantly under- and over-represented gene ontology (GO terms in a set of genes consider the genes as equally probable "balls in a bag", as may be appropriate for transcripts in micro-array data. However, due to the varying length of genes and intergenic regions, that approach is inappropriate for deciding if any GO terms are correlated with a set of genomic positions. Results: We present an algorithm – GONOME – that can determine which GO terms are significantly associated with a set of genomic positions given a genome annotated with (at least the starts and ends of genes. We show that certain GO terms may appear to be significantly associated with a set of randomly chosen positions in the human genome if gene lengths are not considered, and that these same terms have been reported as significantly over-represented in a number of recent papers. This apparent over-representation disappears when gene lengths are considered, as GONOME does. For example, we show that, when gene length is taken into account, the term "development" is not significantly enriched in genes associated with human CpG islands, in contradiction to a previous report. We further demonstrate the efficacy of GONOME by showing that occurrences of the proteosome-associated control element (PACE upstream activating sequence in the S. cerevisiae genome associate significantly to appropriate GO terms. An extension of this approach yields a whole-genome motif discovery algorithm that allows identification of many other promoter sequences linked to different types of genes, including a large group of previously unknown motifs significantly associated with the terms 'translation' and 'translational elongation'. Conclusion: GONOME is an algorithm that correctly extracts over-represented GO terms from a set of genomic positions. By explicitly considering gene size, GONOME avoids a systematic bias toward GO terms linked to large genes

  9. Beliefs in genetic determinism and attitudes towards psychiatric genetic research: psychometric scale properties, construct associations, demographic correlates, and cross-cultural comparisons.

    Science.gov (United States)

    Voracek, Martin; Swami, Viren; Loibl, Lisa Mariella; Furnham, Adrian

    2007-12-01

    Using two new scales, this study examined beliefs in genetic determinism and attitudes towards psychiatric genetic research in student samples from Austria, Malaysia, Romania, and the United Kingdom. For both constructs, effects of culture were detectable, whereas those related to key demographics were either small and inconsistent across samples (political orientation and religiosity) or zero (sex and age). Judged from factorial dimensionality and internal consistency, the psychometric properties of both scales were satisfactory. Belief in genetic determinism had lower prevalence and corresponded only modestly to positive attitudes towards psychiatric genetic research which had higher prevalence. The correlations of both constructs with a preference of inequality among social groups (social dominance orientation) were modest and inconsistent across samples. Both scales appear appropriate for cross-cultural applications, in particular for research into lay theories and public perceptions regarding genetic vs environmental effects on human behavior, mental disorders, and behavioral and psychiatric genetic research related to these.

  10. Prediction of direct and indirect genetic gains and genotypic correlations in rubber tree progenies

    Directory of Open Access Journals (Sweden)

    Cecília Khusala Verardi

    2011-09-01

    Full Text Available The objective of this work was to estimate the genetic parameters, genotypic and phenotypic correlations, and direct and indirect genetic gains among and within rubber tree (Hevea brasiliensis progenies. The experiment was set up at the Municipality of Jaú, SP, Brazil. A randomized complete block design was used, with 22 treatments (progenies, 6 replicates, and 10 plants per plot at a spacing of 3x3 m. Three‑year‑old progenies were assessed for girth, rubber yield, and bark thickness by direct and indirect gains and genotypic correlations. The number of latex vessel rings showed the best correlations, correlating positively and significantly with girth and bark thickness. Selection gains among progenies were greater than within progeny for all the variables analyzed. Total gains obtained were high, especially for girth increase and rubber yield, which were 93.38 and 105.95%, respectively. Young progeny selection can maximize the expected genetic gains, reducing the rubber tree selection cycle.

  11. Genetic variability, correlation and path analysis of yield contributing characters in sweet potato (ipomoea batatas lam.)

    International Nuclear Information System (INIS)

    Hossain, M.D.; Rabbani, M.G.; Mollah, M.L.R.

    2000-01-01

    Evaluation of 30 sweet potato (Ipomoea batatas Lam.) genotypes for yield contributing characters and tuber yield per plant revealed high phenotypic and genotypic coefficient of variation (PCV and GCV, respectively) for number of tubers per plant, average tuber weight and tuber yield per plant. The heritability and genetic advance were higher for tuber yield per plant, average tuber weight and number of tubers per plant. These three characters also reflected high heritability as well as high genetic advance. As high positive significant correlation, as well as positive direct effect of average tuber weight and number of tubers per plant on tuber yield per plant were found, these characters should be given prime importance for selecting high yielding sweet potato genotypes. (author)

  12. Genetic and environmental correlates of topiramate-induced cognitive impairment

    Science.gov (United States)

    Cirulli, Elizabeth T.; Urban, Thomas J.; Marino, Susan E.; Linney, Kristen N.; Birnbaum, Angela K.; Depondt, Chantal; Attix, Deborah K.; Radtke, Rodney A.; Goldstein, David B.

    2011-01-01

    Topiramate is an antiepileptic drug that has marked, treatment-limiting side effects on specific aspects of cognitive performance in both patients and healthy volunteers. As these severe side-effects occur only in certain individuals, identifying genetic or environmental variables that influence cognitive response would be of great utility in determining whether to administer this drug to a patient. We gave an acute 100 mg oral dose of topiramate to 158 healthy volunteers and measured how the drug changed their performance on a diverse battery of cognitive tests. We found a wide range of responses to topiramate and demonstrated that not all tests in the battery were equally affected. There was no correlation between the effect of topiramate and either education level or baseline cognitive performance. Interestingly, there was up to 55-fold variation in the topiramate plasma levels of the participants. Our genome-wide association study (GWAS) of cognitive response did not reveal any genome-wide significant associations; the study was powered to find variants explaining at least 25% of the variation in cognitive response. Combining the results of this GWAS with a retrospective study of cognitive complaints in 290 epilepsy patients who received topiramate as part of their treatment also did not result in a significant association. Our results support the need for additional genetic studies of topiramate that utilize larger sample sizes. PMID:22091778

  13. Genetic Variability, Correlation Studies and Path Coefficient Analysis in Gladiolus Alatus Cultivars

    International Nuclear Information System (INIS)

    Ramzan, A.; Nawab, N. N.; Tariq, M. S.; Ikram, S.; Ahad, A.

    2016-01-01

    A study was undertaken to find out the estimates of genetic variability, genetic parameters and character association among different flower traits between three gladiolus cultivars viz: Sancerre, Fado and Advanced Red. The experiment was repeated three times by using RCBD (Randomized complete block design) at Department of Horticulture, PMAS-UAAR, Rawalpindi. The highest genotypic coefficient variation (GCV) and phenotypic coefficient variation (PCV) magnitude was observed for spike length (16.00) and number of florets per spike (14.84) followed by number of leaves (10.00). Among the traits studied the highest heritability estimates was recorded in spike length (99.5 percent) followed by number of florets/spike (99.6 percent) and lowest in plant height (98.2 percent). The genetic advance as percent of mean was ranged from 2.8 percent to 24.75 percent. Genetic advance was highest for floret breadth (24.75 percent) and lowest for plant height (2.8 percent). High heritability combined with high genetic advance was noticed for number of florets per spike, spike length and floret breadth indicating additive gene action which suggested that improvement of these traits would be effective for further selection of superior genotypes. Plant height and number of florets per spike showed highly positive and significant association with spike length, number of leaves, leaf area, floret length and floret breadth while, spike length registered positive and significant correlation with number of leaves and floret breadth. The path coefficient analysis based on spike length, as responsible variable exposed that all of the traits exerted direct positive effect except leaf area and floret length. Spike length imparted maximum positive direct effect on the number of florets per spike. Hence, spike length and number of florets per spike may be considered for further improvement. However, Floret length and floret breadth may also be considered as a criterion for selection. (author)

  14. Structured sparse canonical correlation analysis for brain imaging genetics: an improved GraphNet method.

    Science.gov (United States)

    Du, Lei; Huang, Heng; Yan, Jingwen; Kim, Sungeun; Risacher, Shannon L; Inlow, Mark; Moore, Jason H; Saykin, Andrew J; Shen, Li

    2016-05-15

    Structured sparse canonical correlation analysis (SCCA) models have been used to identify imaging genetic associations. These models either use group lasso or graph-guided fused lasso to conduct feature selection and feature grouping simultaneously. The group lasso based methods require prior knowledge to define the groups, which limits the capability when prior knowledge is incomplete or unavailable. The graph-guided methods overcome this drawback by using the sample correlation to define the constraint. However, they are sensitive to the sign of the sample correlation, which could introduce undesirable bias if the sign is wrongly estimated. We introduce a novel SCCA model with a new penalty, and develop an efficient optimization algorithm. Our method has a strong upper bound for the grouping effect for both positively and negatively correlated features. We show that our method performs better than or equally to three competing SCCA models on both synthetic and real data. In particular, our method identifies stronger canonical correlations and better canonical loading patterns, showing its promise for revealing interesting imaging genetic associations. The Matlab code and sample data are freely available at http://www.iu.edu/∼shenlab/tools/angscca/ shenli@iu.edu Supplementary data are available at Bioinformatics online. © The Author 2016. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

  15. Genetic Imaging of the Association of Oxytocin Receptor Gene (OXTR Polymorphisms with Positive Maternal Parenting

    Directory of Open Access Journals (Sweden)

    Kalina J. Michalska

    2014-02-01

    Full Text Available Background: Well-validated models of maternal behavior in small-brain mammals posit a central role of oxytocin in parenting, by reducing stress and enhancing the reward value of social interactions with offspring. In contrast, human studies are only beginning to gain insights into how oxytocin modulates maternal behavior and affiliation. Methods: To explore associations between oxytocin receptor genes and maternal parenting behavior in humans, we conducted a genetic imaging study of women selected to exhibit a wide range of observed parenting when their children were 4-6 years old. Results: In response to child stimuli during functional magnetic resonance imaging, hemodynamic responses in brain regions that mediate affect, reward, and social behavior were significantly correlated with observed positive parenting. Furthermore, single nucleotide polymorphisms (rs53576 and rs1042778 in the gene encoding the oxytocin receptor were significantly associated with both positive parenting and hemodynamic responses to child stimuli in orbitofrontal cortex, anterior cingulate cortex and hippocampus. Conclusions: These findings contribute to the emerging literature on the role of oxytocin in human social behavior and support the feasibility of tracing biological pathways from genes to neural regions to positive maternal parenting behaviors in humans using genetic imaging methods.

  16. The heritability and genetic correlates of mobile phone use: a twin study of consumer behavior.

    Science.gov (United States)

    Miller, Geoffrey; Zhu, Gu; Wright, Margaret J; Hansell, Narelle K; Martin, Nicholas G

    2012-02-01

    There has been almost no overlap between behavior genetics and consumer behavior research, despite each field's importance in understanding society. In particular, both have neglected to study genetic influences on consumer adoption and usage of new technologies -- even technologies as important as the mobile phone, now used by 5.8 out of 7.0 billion people on earth. To start filling this gap, we analyzed self-reported mobile phone use, intelligence, and personality traits in two samples of Australian teenaged twins (mean ages 14.2 and 15.6 years), totaling 1,036 individuals. ACE modeling using Mx software showed substantial heritabilities for how often teens make voice calls (.60 and .34 in samples 1 and 2, respectively) and for how often they send text messages (.53 and. 50). Shared family environment - including neighborhood, social class, parental education, and parental income (i.e., the generosity of calling plans that parents can afford for their teens) -- had much weaker effects. Multivariate modeling based on cross-twin, cross-trait correlations showed negative genetic correlations between talking/texting frequency and intelligence (around -.17), and positive genetic correlations between talking/texting frequency and extraversion (about .20 to .40). Our results have implications for assessing the risks of mobile phone use such as radiofrequency field (RF) exposure and driving accidents, for studying adoption and use of other emerging technologies, for understanding the genetic architecture of the cognitive and personality traits that predict consumer behavior, and for challenging the common assumption that consumer behavior is shaped entirely by culture, media, and family environment.

  17. Overlapping Neural Correlates of Reading Emotionally Positive and Negative Adjectives

    OpenAIRE

    Demirakca, Traute; Herbert, Cornelia; Kissler, Johanna; Ruf, Matthias; Wokrina, Tim; Ende, Gabriele

    2009-01-01

    Comparison of positive and negative naturally read adjectives to neutral adjectives yielded an overlapping higher BOLD response in the occipital and the orbitofrontal cortex (gyrus rectus). Superior medial frontal gyrus and posterior cingulate gyrus showed higher BOLD response to negative adjectives and inferior frontal gyrus to positive adjectives. The overlap of activated regions and lack of pronounced distinct regions supports the assumption that the processing of negative and positive wor...

  18. instability and reversal of genetic correlations during selection on ...

    Indian Academy of Sciences (India)

    Unknown

    stable genetic architecture has been the motivation for nu- merous investigations ... 'decisions' made by the organism concerning the mode of resource acquisition ... genetic background, making the population the appropri- ate unit of study.

  19. Genetic and non-genetic correlates of vitamins K and D.

    Science.gov (United States)

    Shea, M K; Benjamin, E J; Dupuis, J; Massaro, J M; Jacques, P F; D'Agostino, R B; Ordovas, J M; O'Donnell, C J; Dawson-Hughes, B; Vasan, R S; Booth, S L

    2009-04-01

    To assess the genetic and nongenetic correlates of circulating measures of vitamins K and D status in a community-based sample of men and women. A cross-sectional study of 1762 participants of the Framingham Offspring Study (919 women; mean age 59 years). Vitamin K status was measured as plasma phylloquinone and serum percent undercarboxylated osteocalcin (ucOC), and vitamin D was measured using plasma 25-hydroxyvitamin D (25(OH)D). Associations between vitamin K status and vitamin D status with biologically plausible nongenetic factors were assessed using stepwise regression. Heritability and linkage were determined using Sequential Oligogenic Linkage Analysis Routines (SOLAR). Nongenetic factors accounted for 20.1 and 12.3% of the variability in plasma phylloquinone in men and women respectively, with triglycerides and phylloquinone intake being the primary correlates. In men 12.2% and in women 14.6% of the variability in %ucOC was explained by nongenetic factors in our models. Heritability estimates for these vitamin K status biomarkers were nonsignificant. Season, vitamin D intake, high-density lipoprotein (HDL) cholesterol and waist circumference explained 24.7% (men) and 24.2% (women) of the variability in plasma 25(OH)D. Of the three vitamins examined, only 25(OH)D was significantly heritable (heritability estimate=28.8%, Pvitamin K status was attributed to nongenetic factors, whereas plasma 25(OH)D was found to be significantly heritable. Further studies are warranted to investigate genetic loci influencing vitamin D status.

  20. Neural correlates of attitude change following positive and negative advertisements

    Directory of Open Access Journals (Sweden)

    Junko Kato

    2009-05-01

    Full Text Available Understanding changes in attitudes towards others is critical to understanding human behaviour. Neuropolitical studies have found that the activation of emotion-related areas in the brain is linked to resilient political preferences, and neuroeconomic research has analysed the neural correlates of social preferences that favour or oppose consideration of intrinsic rewards. This study aims to identify the neural correlates in the prefrontal cortices of changes in political attitudes toward others that are linked to social cognition. Functional magnetic resonance imaging (fMRI experiments have presented videos from previous electoral campaigns and television commercials for major cola brands and then used the subjects’ self-rated affinity toward political candidates as behavioural indicators. After viewing negative campaign videos, subjects showing stronger fMRI activation in the dorsolateral prefrontal cortex lowered their ratings of the candidate they originally supported more than did those with smaller fMRI signal changes in the same region. Subjects showing stronger activation in the medial prefrontal cortex tended to increase their ratings more than did those with less activation. The same regions were not activated by viewing negative advertisements for cola. Correlations between the self-rated values and the neural signal changes underscore the metric representation of observed decisions (i.e., whether to support or not in the brain. This indicates that neurometric analysis may contribute to the exploration of the neural correlates of daily social behaviour.

  1. Study of correlations of positive and negative charged particles

    International Nuclear Information System (INIS)

    Takahashi, Y.; Chan, C.H.; Dong, B.L.; Duthie, J.G.; Gregory, J.C.; Hayashi, T.; Yokomi, H.; Christl, M.J.; Derrickson, J.H.; Eby, P.B.; Fountain, W.F.; Parnell, T.A.; Roberts, F.E.; Nagamiya, S.; Dake, S.; Tominaga, T.; Fuki, M.; Iyono, A.; Ogata, T.; Miyamura, O.

    1991-01-01

    Particle correlations of the central collision events of 32 S + Pb at 200 GeV/AMU have been studied by utilizing a Magnetic-Interferomagnetic-Emulsion-Chamber (MAGIC) detector. Particle angles, momentum, and charge-signs are measured for all produced charged tracks for each event. Two-particle correlation functions, C 2 = dN (vertical strokep 1 - p 2 vertical stroke = q)/dp 1 dp 2 , for (++), (--) and (+-) particles are examined. A source radius around 4 - 6 fm is observed for overall identical particle correlations, while unexpected short-range correlations of unlike-sign pairs are observed in the high rapidity region. An analysis of unlike-sign pairs in terms of resonance decays indicated that a large amount (40% relative to pions) of η or ω mesons (decaying into 3 π), or of scalar iso-scalar σ mesons (decaying into 2 π) would be required to explain some of the data. Multi-particle charge-sign clusters are recognized; however, their 'run-test' and 'conjugate-test' show small deviations from statistical fluctuations. (orig.)

  2. Neural Correlates of Attitude Change Following Positive and Negative Advertisements

    Science.gov (United States)

    Kato, Junko; Ide, Hiroko; Kabashima, Ikuo; Kadota, Hiroshi; Takano, Kouji; Kansaku, Kenji

    2009-01-01

    Understanding changes in attitudes towards others is critical to understanding human behaviour. Neuropolitical studies have found that the activation of emotion-related areas in the brain is linked to resilient political preferences, and neuroeconomic research has analysed the neural correlates of social preferences that favour or oppose consideration of intrinsic rewards. This study aims to identify the neural correlates in the prefrontal cortices of changes in political attitudes toward others that are linked to social cognition. Functional magnetic resonance imaging (fMRI) experiments have presented videos from previous electoral campaigns and television commercials for major cola brands and then used the subjects' self-rated affinity toward political candidates as behavioural indicators. After viewing negative campaign videos, subjects showing stronger fMRI activation in the dorsolateral prefrontal cortex lowered their ratings of the candidate they originally supported more than did those with smaller fMRI signal changes in the same region. Subjects showing stronger activation in the medial prefrontal cortex tended to increase their ratings more than did those with less activation. The same regions were not activated by viewing negative advertisements for cola. Correlations between the self-rated values and the neural signal changes underscore the metric representation of observed decisions (i.e., whether to support or not) in the brain. This indicates that neurometric analysis may contribute to the exploration of the neural correlates of daily social behaviour. PMID:19503749

  3. Correlation among genetic, Euclidean, temporal, and herd ownership distances of porcine reproductive and respiratory syndrome virus strains in Quebec, Canada

    Directory of Open Access Journals (Sweden)

    Lambert Marie-Ève

    2012-06-01

    Full Text Available Abstract Background Porcine reproductive and respiratory syndrome (PRRS is a viral disease that has a major economic impact for the swine industry. Its control is mostly directed towards preventing its spread which requires a better understanding of the mechanisms of transmission of the virus between herds. The objectives of this study were to describe the genetic diversity and to assess the correlation among genetic, Euclidean and temporal distances and ownership to better understand pathways of transmission. Results A cross-sectional study was conducted on sites located in a high density area of swine production in Quebec. Geographical coordinates (longitude/latitude, date of submission and ownership were obtained for each site. ORF5 sequencing was attempted on PRRSV positive sites. Proportion of pairwise combinations of strains having ≥98% genetic homology were analysed according to Euclidean distances and ownership. Correlations between genetic, Euclidean and temporal distances and ownership were assessed using Mantel tests on continuous and binary matrices. Sensitivity of the correlations between genetic and Euclidean as well as temporal distances was evaluated for different Euclidean and temporal distance thresholds. An ORF5 sequence was identified for 132 of the 176 (75% PRRSV positive sites; 122 were wild-type strains. The mean (min-max genetic, Euclidean and temporal pairwise distances were 11.6% (0–18.7, 15.0 km (0.04-45.7 and 218 days (0–852, respectively. Significant positive correlations were observed between genetic and ownership, genetic and Euclidean and between genetic and temporal binary distances. The relationship between genetic and ownership suggests either common sources of animals or semen, employees, technical services or vehicles, whereas that between genetic and Euclidean binary distances is compatible with area spread of the virus. The latter correlation was observed only up to 5 km. Conclusions This study

  4. Clinical and genetic correlates of decision making in anorexia nervosa.

    Science.gov (United States)

    Tenconi, Elena; Degortes, Daniela; Clementi, Maurizio; Collantoni, Enrico; Pinato, Claudia; Forzan, Monica; Cassina, Matteo; Santonastaso, Paolo; Favaro, Angela

    2016-01-01

    Decision-making (DM) abilities have been found to be impaired in anorexia nervosa (AN), but few data are available about the characteristics and correlates of this cognitive function. The aim of the present study was to provide data on DM functioning in AN using both veridical and adaptive paradigms. While in veridical DM tasks, the individual's ability to predict a true/false response is measured, adaptive DM is the ability to consider both internal and external demands in order to make a good choice, in the absence of a single true "correct" answer. The participants were 189 women, of whom 91 were eating-disordered patients with a lifetime diagnosis of anorexia nervosa, and 98 were healthy women. All the participants underwent clinical, neuropsychological, and genetic assessment. The cognitive evaluation included a set of neuropsychological tasks and two decision-making tests: The Iowa Gambling Task and the Cognitive Bias Task. Anorexia nervosa patients showed significantly poorer performances on both decision-making tasks than healthy women. The Cognitive Bias Task revealed that anorexia nervosa patients employed significantly more context-independent decision-making strategies, which were independent from diagnostic subtype, handedness, education, and psychopathology. In the whole sample (patients and controls), Cognitive Bias Task performance was independently predicted by lifetime anorexia nervosa diagnosis, body mass index at assessment, and 5-HTTLPR genotype. Patients displayed poor decision-making functioning in both veridical and adaptive situations. The difficulties detected in anorexia nervosa individuals may affect not only the ability to consider the future outcomes of their actions (leading to "myopia for the future"), but also the capacity to update and review one's own mindset according to new environmental stimuli.

  5. Family correlates of depression among hiv positive patients ...

    African Journals Online (AJOL)

    Background information: HIV infection may impact negatively on family relationship and vice versa. Members of the family of HIV positive patients may become frustrated because of the stigma of having a family member with HIV infection, and the burden of having to care for the patient. This can result into the family ...

  6. Correlates of HIV stigma in HIV-positive women.

    Science.gov (United States)

    Wagner, Anne C; Hart, Trevor A; Mohammed, Saira; Ivanova, Elena; Wong, Joanna; Loutfy, Mona R

    2010-06-01

    We examined the variables associated with HIV stigma in HIV-positive women currently living in Ontario, Canada. Based on previous literature, we predicted that variables of social marginalization (e.g., ethnicity, income, education), medical variables (e.g., higher CD4 count, lower viral load), and increased psychological distress would be associated with higher perceived HIV stigma among HIV-positive women. One hundred fifty-nine HIV-positive women between the ages of 18 and 52 in Ontario completed self-report measures of the aforementioned variables. Women were recruited through 28 AIDS service organizations, eight HIV clinics, and two community health centers. In multiple regression analyses, for women born in Canada, lower educational level and higher anxiety were associated with higher HIV stigma. For women born outside of Canada, having been judged by a physician in Canada for trying to become pregnant was associated with higher HIV stigma. For HIV-positive women born outside of Canada, negative judgment by a physician regarding intentions to become pregnant should be addressed to reduce perceived HIV stigma and vice versa. Health care providers should be trained in the provision of sensitive and effective health care for women living with HIV, especially when providing reproductive health care.

  7. Sociotropic personality traits positively correlate with the severity of ...

    African Journals Online (AJOL)

    psychology. ... concepts of sociotropy-autonomy, depression and anxiety. ... may have a positive impact on treatment outcome. ... Beck Depression Inventory (BDI) rates somatic, emotional, .... and may prospectively provide a contribution to the literature. ... Individual differences in ego depletion: The role of sociotropy-.

  8. Genetic variation and trait correlations in a birdresistant pearl millet ...

    African Journals Online (AJOL)

    selection indices for effective improvement. There was significant genetic variation for grain yield and most yield component traits, indicating that selection within the population would be feasible. Genetic variation was, however not significant for the percent incidence of downy mildew, implying that selection for improving ...

  9. Genetic correlations between mature cow weight and productive and reproductive traits in Nellore cattle.

    Science.gov (United States)

    Regatieri, I C; Boligon, A A; Baldi, F; Albuquerque, L G

    2012-08-29

    We investigated genetic associations between mature cow weight (MW) and weaning weight (WW), yearling weight (YW), weight gain from birth to weaning (GBW), weight gain from weaning to yearling (GWY), weaning hip height (WHH), yearling hip height (YHH), scrotal circumference (SC), and age at first calving (AFC). Data from 127,104 Nellore animals born between 1993 and 2006, belonging to Agropecuária Jacarezinho Ltda., were analyzed. (Co)variance components were obtained by the restricted maximum likelihood method, applying an animal model in a multi-traits analysis. The model included direct genetic and residual effects as random effects, the fixed effects of contemporary group, and the linear and quadratic effects of animal age at recording (except for AFC, GBW, and GWY) and age of cow at calving as covariates (except for MW). The numbers of days from birth to weaning and from weaning to yearling were included as covariates for GBW and GWY, respectively. Estimated direct heritabilities were 0.43 ± 0.02 (MW), 0.33 ± 0.01 (WW), 0.36 ± 0.01 (YW), 0.28 ± 0.02 (GBW), 0.31 ± 0.01 (GWY), 0.44 ± 0.02 (WHH), 0.48 ± 0.02 (YHH), 0.44 ± 0.01 (SC), and 0.16 ± 0.03 (AFC). Genetic correlations between MW and productive traits were positive and of medium to high magnitude (ranging from 0.47 ± 0.03 to 0.71 ± 0.01). A positive and low genetic correlation was observed between MW and SC (0.24 ± 0.04). A negative genetic correlation (-0.19 ± 0.03) was estimated between MW and AFC. Selection to increase weight or weight gains at any age, as well as hip height, will change MW in the same direction. Selection for higher SC may lead to a long-term increase in MW. The AFC can be included in selection indices to improve the reproductive performance of beef cattle without significant changes in MW.

  10. Genetic correlations among body condition score, yield and fertility in multiparous cows using random regression models

    OpenAIRE

    Bastin, Catherine; Gillon, Alain; Massart, Xavier; Bertozzi, Carlo; Vanderick, Sylvie; Gengler, Nicolas

    2010-01-01

    Genetic correlations between body condition score (BCS) in lactation 1 to 3 and four economically important traits (days open, 305-days milk, fat, and protein yields recorded in the first 3 lactations) were estimated on about 12,500 Walloon Holstein cows using 4-trait random regression models. Results indicated moderate favorable genetic correlations between BCS and days open (from -0.46 to -0.62) and suggested the use of BCS for indirect selection on fertility. However, unfavorable genetic c...

  11. Muscle MRI in pediatrics: clinical, pathological and genetic correlation

    Energy Technology Data Exchange (ETDEWEB)

    Cejas, Claudia P.; Serra, Maria M.; Galvez, David F.G. [Foundation for Neurological Research Dr. Raul Carrea (FLENI), Radiology Department, Buenos Aires (Argentina); Cavassa, Eliana A.; Vazquez, Gabriel A.; Massaro, Mario E.L.; Schteinschneider, Angeles V. [Foundation for Neurological Research Dr. Raul Carrea (FLENI), Department of Neuropediatrics, Buenos Aires (Argentina); Taratuto, Ana L. [Foundation for Neurological Research Dr. Raul Carrea (FLENI), Neuropathology Consultant, Buenos Aires (Argentina)

    2017-05-15

    Pediatric myopathies comprise a very heterogeneous group of disorders that may develop at different ages and affect different muscle groups. Its diagnosis is sometimes difficult and must be confirmed by muscle biopsy and/or genetic analysis. In recent years, muscle involvement patterns observed on MRI have become a valuable tool, aiding clinical diagnosis and enriching pathological and genetic assessments. We selected eight myopathy cases from our institutional database in which the pattern of muscle involvement observed on MRI was almost pathognomonic and could therefore contribute to establishing diagnosis. Muscle biopsy, genetic diagnosis or both confirmed all cases. (orig.)

  12. Muscle MRI in pediatrics: clinical, pathological and genetic correlation

    International Nuclear Information System (INIS)

    Cejas, Claudia P.; Serra, Maria M.; Galvez, David F.G.; Cavassa, Eliana A.; Vazquez, Gabriel A.; Massaro, Mario E.L.; Schteinschneider, Angeles V.; Taratuto, Ana L.

    2017-01-01

    Pediatric myopathies comprise a very heterogeneous group of disorders that may develop at different ages and affect different muscle groups. Its diagnosis is sometimes difficult and must be confirmed by muscle biopsy and/or genetic analysis. In recent years, muscle involvement patterns observed on MRI have become a valuable tool, aiding clinical diagnosis and enriching pathological and genetic assessments. We selected eight myopathy cases from our institutional database in which the pattern of muscle involvement observed on MRI was almost pathognomonic and could therefore contribute to establishing diagnosis. Muscle biopsy, genetic diagnosis or both confirmed all cases. (orig.)

  13. Genetic correlation between amyotrophic lateral sclerosis and schizophrenia

    DEFF Research Database (Denmark)

    McLaughlin, Russell L; Schijven, Dick; van Rheenen, Wouter

    2017-01-01

    We have previously shown higher-than-expected rates of schizophrenia in relatives of patients with amyotrophic lateral sclerosis (ALS), suggesting an aetiological relationship between the diseases. Here, we investigate the genetic relationship between ALS and schizophrenia using genome...

  14. Evolutionary potential of root chemical defense: genetic correlations with shoot chemistry and plant growth.

    Science.gov (United States)

    Parker, J D; Salminen, J-P; Agrawal, Anurag A

    2012-08-01

    Root herbivores can affect plant fitness, and roots often contain the same secondary metabolites that act as defenses in shoots, but the ecology and evolution of root chemical defense have been little investigated. Here, we investigated genetic variance, heritability, and correlations among defensive phenolic compounds in shoot vs. root tissues of common evening primrose, Oenothera biennis. Across 20 genotypes, there were roughly similar concentrations of total phenolics in shoots vs. roots, but the allocation of particular phenolics to shoots vs. roots varied along a continuum of genotype growth rate. Slow-growing genotypes allocated 2-fold more of the potential pro-oxidant oenothein B to shoots than roots, whereas fast-growing genotypes had roughly equivalent above and belowground concentrations. Phenolic concentrations in both roots and shoots were strongly heritable, with mostly positive patterns of genetic covariation. Nonetheless, there was genotype-specific variation in the presence/absence of two major ellagitannins (oenothein A and its precursor oenothein B), indicating two different chemotypes based on alterations in this chemical pathway. Overall, the presence of strong genetic variation in root defenses suggests ample scope for the evolution of these compounds as defenses against root herbivores.

  15. Estimating the actual subject-specific genetic correlations in behavior genetics.

    Science.gov (United States)

    Molenaar, Peter C M

    2012-10-01

    Generalization of the standard behavior longitudinal genetic factor model for the analysis of interindividual phenotypic variation to a genetic state space model for the analysis of intraindividual variation enables the possibility to estimate subject-specific heritabilities.

  16. [Correlation between genetic differences of mates and pathogenicity of Schistosoma japonicum in definitive host].

    Science.gov (United States)

    Wen-Qiao, Huang; Yuan-Jian, Zhu; Da-Bing, Lv; Xia, Zhou; Ying-Nan, Yang; Hong-Xiang, Zhu-Ge

    2016-05-24

    To explore the correlation between the genetic dissimilarity and heterozygosity of mates and the pathogenicity of Schistosoma japonicum in the definitive host. By using seven microsatellite loci markers, S. japonicum genotyping of sixteen pairs randomly mated was performed, the genetic dissimilarity and heterozygosity were calculated between the mates, and the correlation between the genetic dissimilarity and heterozygosity of the mates and the pathogenicity of S. japonicum in the definitive host was evaluated. There was a significant correlation between the genetic similarity of S. japonicum mates and the mean number of eggs per worm pair in the liver and intestinal tissue ( r = 0.501 6, P correlation between the genetic similarity of the mates and hepatosplenomegaly per worm pair ( r = 0.109 5, P > 0.05; r = 0.265 3, P > 0.05, respectively) and the average diameter of granuloma in the liver ( r = -0.272 7, P > 0.05), respectively. There was no correlation between the heterozygosity of the mates and all the pathological parameters of S. japonicum in the definitive host ( P > 0.05). There is the correlation between the genetic dissimilarity of the mates and the pathogenicity of S. japonicum in the definitive host, and the genetic dissimilarity is greater, pathogenicity is weaker. There is no correlation between heterozygosity of the mates and the pathogenicity of S. japonicum in the definitive host.

  17. Why do measures of normal and disordered personality correlate? A study of genetic comorbidity.

    Science.gov (United States)

    Jang, K L; Livesley, W J

    1999-01-01

    The genetic and environmental correlations between measures of normal (NEO-FFI) and abnormal personality (Dimensional Assessment of Personality Pathology: DAPP-BQ) were estimated in a sample of 545 volunteer general population twin pairs (269 monozygotic and 276 dizygotic pairs). The largest genetic correlations were observed between the 18 DAPP-BQ dimensions and NEO-FFI neuroticism (range = .05 to .81; median = .48), extraversion (range = -.65 to .33; median = -.28), agreeableness (range = -.65 to .00; median = -.38), and conscientiousness (range = -.76 to .52; median = -.31). The smallest genetic correlations were found between the DAPP-BQ dimensions and NEO-FFI openness (range = -.17 to .20; median = -.04). The environmental correlations are lower in magnitude but show the same pattern of correlations between DAPP-BQ and NEO-FFI scales. These results indicate that these two scales share a common broad-based genetic architecture, whereas the environmental influences show greater scale specificity.

  18. Effect of Correlated Noises in a Genetic Model

    International Nuclear Information System (INIS)

    Li, Zhang; Li, Cao

    2010-01-01

    The Stratonovich stochastic differential equation is used to analyze genotype selection in the presence of correlated Gaussian white noises. We study the steady state properties of the genotype selection and discuss the effects of the correlated noises. It is found that the degree of correlation of the noises can be used to select one type of genes from another type of mixing genes. The strong selection of genes caused by a large value of multiplicative noise intensity can be weakened by the intensive negative correlation. (general)

  19. Genetic correlations between intraocular pressure, blood pressure and primary open-angle glaucoma: a multi-cohort analysis.

    Science.gov (United States)

    Aschard, Hugues; Kang, Jae H; Iglesias, Adriana I; Hysi, Pirro; Cooke Bailey, Jessica N; Khawaja, Anthony P; Allingham, R Rand; Ashley-Koch, Allison; Lee, Richard K; Moroi, Sayoko E; Brilliant, Murray H; Wollstein, Gadi; Schuman, Joel S; Fingert, John H; Budenz, Donald L; Realini, Tony; Gaasterland, Terry; Scott, William K; Singh, Kuldev; Sit, Arthur J; Igo, Robert P; Song, Yeunjoo E; Hark, Lisa; Ritch, Robert; Rhee, Douglas J; Gulati, Vikas; Haven, Shane; Vollrath, Douglas; Zack, Donald J; Medeiros, Felipe; Weinreb, Robert N; Cheng, Ching-Yu; Chasman, Daniel I; Christen, William G; Pericak-Vance, Margaret A; Liu, Yutao; Kraft, Peter; Richards, Julia E; Rosner, Bernard A; Hauser, Michael A; Klaver, Caroline C W; vanDuijn, Cornelia M; Haines, Jonathan; Wiggs, Janey L; Pasquale, Louis R

    2017-11-01

    Primary open-angle glaucoma (POAG) is the most common chronic optic neuropathy worldwide. Epidemiological studies show a robust positive relation between intraocular pressure (IOP) and POAG and modest positive association between IOP and blood pressure (BP), while the relation between BP and POAG is controversial. The International Glaucoma Genetics Consortium (n=27 558), the International Consortium on Blood Pressure (n=69 395), and the National Eye Institute Glaucoma Human Genetics Collaboration Heritable Overall Operational Database (n=37 333), represent genome-wide data sets for IOP, BP traits and POAG, respectively. We formed genome-wide significant variant panels for IOP and diastolic BP and found a strong relation with POAG (odds ratio and 95% confidence interval: 1.18 (1.14-1.21), P=1.8 × 10 -27 ) for the former trait but no association for the latter (P=0.93). Next, we used linkage disequilibrium (LD) score regression, to provide genome-wide estimates of correlation between traits without the need for additional phenotyping. We also compared our genome-wide estimate of heritability between IOP and BP to an estimate based solely on direct measures of these traits in the Erasmus Rucphen Family (ERF; n=2519) study using Sequential Oligogenic Linkage Analysis Routines (SOLAR). LD score regression revealed high genetic correlation between IOP and POAG (48.5%, P=2.1 × 10 -5 ); however, genetic correlation between IOP and diastolic BP (P=0.86) and between diastolic BP and POAG (P=0.42) were negligible. Using SOLAR in the ERF study, we confirmed the minimal heritability between IOP and diastolic BP (P=0.63). Overall, IOP shares genetic basis with POAG, whereas BP has limited shared genetic correlation with IOP or POAG.

  20. Genetic parameters and correlations among linear type traits in the ...

    African Journals Online (AJOL)

    user

    2011-02-28

    Feb 28, 2011 ... of Holstein heredity (BLD), respectively. The fixed effect of technician was denoted by TEC, the random effect of animal additive genetic effect and residual effects were shown by A and E, respectively. Each of the fixed effects was investigated via SAS software (proc Generalized Linear Model). In this study,.

  1. Genetic variability, correlation and path analysis in sponge gourd ...

    African Journals Online (AJOL)

    Windows-7

    2013-02-06

    Feb 6, 2013 ... fiber used in industries for filter and cleaning the motor car, glass wares, kitchen ... The fibrous vascular system inside the fruit after been separated from the skin, ... was carried out to gather information on genetic variability ...

  2. Genetic parameters and correlations among linear type traits in the ...

    African Journals Online (AJOL)

    The main objective of this study was to estimate the genetic parameters and relationships of 10 linear type traits in the first lactation of Holstein dairy cows. 3274 records for type traits was used (Ag, angularity; Sta, stature; Bdp, body depth; Rw, rump width; Rs, rear leg side view; Fa, foot angle; Fu, fore udder attachment; Ruh, ...

  3. Genetic characterization of trh positive Vibrio spp. isolated from Norway

    Directory of Open Access Journals (Sweden)

    Anette eBauer Ellingsen

    2013-12-01

    Full Text Available The thermostable direct hemolysin (TDH and/or TDH-related hemolysin (TRH genes are carried by most virulent Vibrio parahaemolyticus serovars. In Norway, trh+ V. parahaemolyticus constitute 4.4% and 4.5 % of the total number of V. parahaemolyticus isolated from blue mussel (Mytilus edulis and water, respectively. The trh gene is located in a region close to the gene cluster for urease production (ure. This region was characterized in V. parahaemolyticus strain TH3996 and it was found that a nickel transport operon (nik was located between the first gene (ureR and the rest of the ure cluster genes. The organization of the trh-ureR-nik-ure gene cluster in the Norwegian trh+ isolates was unknown. In this study, we explore the gene organization within the trh-ureR-nik-ure cluster for these isolates. PCR analyses revealed that the genes within the trh-ureR-nik-ure gene cluster of Norwegian trh+ isolates were organized in a similar fashion as reported previously for TH33996. Additionally, the phylogenetic relationship among these trh+ isolates was investigated using Multilocus Sequence Typing (MLST. Analysis by MLST or ureR-trh sequences generated two different phylogenetic trees for the same strains analyzed, suggesting that ureR-trh genes have been acquired at different times in Norwegian V. parahaemolyticus isolates. MLST results revealed that some pathogenic and non-pathogenic V. parahaemolyticus isolates in Norway appear to be highly genetically related.

  4. On the Genetic and Environmental Correlations between Trait Emotional Intelligence and Vocational Interest Factors.

    Science.gov (United States)

    Schermer, Julie Aitken; Petrides, Konstantinos V; Vernon, Philip A

    2015-04-01

    The phenotypic (observed), genetic, and environmental correlations were examined in a sample of adult twins between the four factors and global score of the trait emotional intelligence questionnaire (TEIQue) and the seven vocational interest factors of the Jackson Career Explorer (JCE). Multiple significant correlations were found involving the work style vocational interest factor (consisting of job security, stamina, accountability, planfulness, and interpersonal confidence) and the social vocational interest factor (which included interests in the social sciences, personal services, teaching, social services, and elementary education), both of which correlated significantly with all of the TEIQue variables (well-being, self-control, emotionality, sociability, and global trait EI). Following bivariate genetic analyses, most of the significant phenotypic correlations were found to also have significant genetic correlations as well as significant non-shared (unique) environmental correlations.

  5. Heritabilities and genetic correlations for honey yield, gentleness, calmness and swarming behaviour in Austrian honey bees

    NARCIS (Netherlands)

    Brascamp, Evert; Willam, Alfons; Boigenzahn, Christian; Bijma, Piter; Veerkamp, Roel F.

    2016-01-01

    Heritabilities and genetic correlations were estimated for honey yield and behavioural traits in Austrian honey bees using data on nearly 15,000 colonies of the bee breeders association Biene Österreich collected between 1995 and 2014. The statistical models used distinguished between the genetic

  6. The genetics of music accomplishment: evidence for gene-environment correlation and interaction.

    Science.gov (United States)

    Hambrick, David Z; Tucker-Drob, Elliot M

    2015-02-01

    Theories of skilled performance that emphasize training history, such as K. Anders Ericsson and colleagues' deliberate-practice theory, have received a great deal of recent attention in both the scientific literature and the popular press. Twin studies, however, have demonstrated evidence for moderate-to-strong genetic influences on skilled performance. Focusing on musical accomplishment in a sample of over 800 pairs of twins, we found evidence for gene-environment correlation, in the form of a genetic effect on music practice. However, only about one quarter of the genetic effect on music accomplishment was explained by this genetic effect on music practice, suggesting that genetically influenced factors other than practice contribute to individual differences in music accomplishment. We also found evidence for gene-environment interaction, such that genetic effects on music accomplishment were most pronounced among those engaging in music practice, suggesting that genetic potentials for skilled performance are most fully expressed and fostered by practice.

  7. Basal metabolic rate is positively correlated with parental investment in laboratory mice

    Science.gov (United States)

    Sadowska, Julita; Gębczyński, Andrzej K.; Konarzewski, Marek

    2013-01-01

    The assimilation capacity (AC) hypothesis for the evolution of endothermy predicts that the maternal basal metabolic rate (BMR) should be positively correlated with the capacity for parental investment. In this study, we provide a unique test of the AC model based on mice from a long-term selection experiment designed to produce divergent levels of BMR. By constructing experimental families with cross-fostered litters, we were able to control for the effect of the mother as well as the type of pup based on the selected lines. We found that mothers with genetically determined high levels of BMR were characterized by higher parental investment capacity, measured as the offspring growth rate. We also found higher food consumption and heavier visceral organs in the females with high BMR. These findings suggested that the high-BMR females have higher energy acquisition abilities. When the effect of the line type of a foster mother was controlled, the pup line type significantly affected the growth rate only in the first week of life, with young from the high-BMR line type growing more rapidly. Our results support the predictions of the AC model. PMID:23282996

  8. Positive carotenoid balance correlates with greater reproductive performance in a wild bird.

    Directory of Open Access Journals (Sweden)

    Rebecca J Safran

    Full Text Available BACKGROUND: Carotenoids can confer somatic and reproductive benefits, but most evidence is from captive animal experimentation or single time-point sampling. Another perhaps more informative means by which to assess physiological contributions to animal performance is by tracking an individual's ability to increase or sustain carotenoids or other health-related molecules over time, as these are likely to be temporally variable. METHODOLOGY/PRINCIPAL FINDINGS: In a field study of North American barn swallows (Hirundo rustica erythrogaster, we analyzed within-individual changes in carotenoid concentrations by repeatedly sampling the carotenoid profiles of individuals over the course of the breeding season. Our results demonstrate that carotenoid concentrations of individuals are temporally dynamic and that season-long balance of these molecules, rather than single time-point samples, predict reproductive performance. This was true even when controlling for two important variables associated with reproductive outcomes: (1 timing of breeding and (2 sexually selected plumage coloration, which is itself positively correlated with and concomitantly changes with circulating carotenoid concentrations. CONCLUSIONS/SIGNIFICANCE: While reproduction itself is purported to impose health stress on organisms, these data suggest that free-ranging, high-quality individuals can mitigate such costs, by one or several genetic, environmental (diet, or physiological mechanisms. Moreover, the temporal variations in both health-linked physiological measures and morphological traits we uncover here merit further examination in other species, especially when goals include the estimation of signal information content or the costs of trait expression.

  9. On the relationship between positive and negative affect: Their correlation and their co-occurrence.

    Science.gov (United States)

    Larsen, Jeff T; Hershfield, Hal E; Stastny, Bradley J; Hester, Neil

    2017-03-01

    Understanding the nature of emotional experience requires understanding the relationship between positive and negative affect. Two particularly important aspects of that relationship are the extent to which positive and negative affect are correlated with one another and the extent to which they co-occur. Some researchers have assumed that weak negative correlations imply greater co-occurrence (i.e., more mixed emotions) than do strong negative correlations, but others have noted that correlations may imply very little about co-occurrence. We investigated the relationship between the correlation between positive and negative affect and co-occurrence. Participants in each of 2 samples provided moment-to-moment happiness and sadness ratings as they watched an evocative film and listened to music. Results indicated (a) that 4 measures of the correlation between positive and negative affect were quite highly related to 1 another; (b) that the strength of the correlation between measures of mixed emotions varied considerably; (c) that correlational measures were generally (but not always) weakly correlated with mixed emotion measures; and (d) that bittersweet stimuli consistently led to elevations in mixed emotion measures but did not consistently weaken the correlation between positive and negative affect. Results highlight that the correlation between positive and negative affect and their co-occurrence are distinct aspects of the relationship between positive and negative affect. Such insight helps clarify the implications of existing work on age-related and cultural differences in emotional experience and sets the stage for greater understanding of the experience of mixed emotions. (PsycINFO Database Record (c) 2017 APA, all rights reserved).

  10. Positive aspects of caregiving and its correlates in caregivers of schizophrenia: a study from north India.

    Science.gov (United States)

    Kate, N; Grover, S; Kulhara, P; Nehra, R

    2013-06-01

    OBJECTIVE. To study the positive aspects of caregiving and its correlates in primary caregivers of patients with schizophrenia. METHODS. A total of 100 patients with schizophrenia and their primary caregivers were evaluated. Regarding the caregivers, their positive aspects of caregiving were assessed on the Scale for Positive Aspects of Caregiving Experience (SPACE). To examine the correlates of positive aspects of caregiving, they were also assessed on the Family Burden Interview (FBI) Schedule, the Involvement Evaluation Questionnaire (IEQ), coping checklist, the Social Support Questionnaire, the World Health Organization Quality of Life-BREF (Hindi version), the WHO Quality of Life-Spirituality, Religiousness and Personal Beliefs Scale, as well as the General Health Questionnaire-12. The patients were assessed on the Positive and Negative Syndrome Scale (PANSS) and the Global Assessment of Functioning Scale. RESULTS. On the SPACE, the highest mean score was seen in the domain of motivation for the caregiving role (2.7), followed by that of caregiver satisfaction (2.4) and caregiver gains (2.3). The mean score was least for the domain of self-esteem and social aspect of caring (1.9). The SPACE domain of caregiver satisfaction correlated negatively with many aspects of burden as assessed by FBI Schedule and coping as assessed by the coping checklist; whereas the self-esteem and social aspect of caring domain correlated positively with worrying-urging II domain and the total IEQ score. No significant correlations between the SPACE and socio-demographics as well as most of the clinical variables were noted. Motivation for the caregiving had a positive correlation with the PANSS negative symptom scale. Multiple correlations were found between the SPACE and quality of life, suggesting that higher positive caregiving experience was associated with better quality of life in caregivers. CONCLUSION. Caregivers of patients with schizophrenia do enjoy positive aspects of

  11. Genetics of serum carotenoid concentrations and their correlation with obesity-related traits in Mexican American children.

    Science.gov (United States)

    Farook, Vidya S; Reddivari, Lavanya; Mummidi, Srinivas; Puppala, Sobha; Arya, Rector; Lopez-Alvarenga, Juan Carlos; Fowler, Sharon P; Chittoor, Geetha; Resendez, Roy G; Kumar, Birunda Mohan; Comuzzie, Anthony G; Curran, Joanne E; Lehman, Donna M; Jenkinson, Christopher P; Lynch, Jane L; DeFronzo, Ralph A; Blangero, John; Hale, Daniel E; Duggirala, Ravindranath; Vanamala, Jairam Kp

    2017-07-01

    Background: Dietary intake of phytonutrients present in fruits and vegetables, such as carotenoids, is associated with a lower risk of obesity and related traits, but the impact of genetic variation on these associations is poorly understood, especially in children. Objective: We estimated common genetic influences on serum carotenoid concentrations and obesity-related traits in Mexican American (MA) children. Design: Obesity-related data were obtained from 670 nondiabetic MA children, aged 6-17 y. Serum α- and β-carotenoid concentrations were measured in ∼570 (α-carotene in 565 and β-carotene in 572) of these children with the use of an ultraperformance liquid chromatography-photodiode array. We determined heritabilities for both carotenoids and examined their genetic relation with 10 obesity-related traits [body mass index (BMI), waist circumference (WC), high-density lipoprotein (HDL) cholesterol, triglycerides, fat mass (FM), systolic and diastolic blood pressure, fasting insulin and glucose, and homeostasis model assessment of insulin resistance] by using family data and a variance components approach. For these analyses, carotenoid values were inverse normalized, and all traits were adjusted for significant covariate effects of age and sex. Results: Carotenoid concentrations were highly heritable and significant [α-carotene: heritability ( h 2 ) = 0.81, P = 6.7 × 10 -11 ; β-carotene: h 2 = 0.90, P = 3.5 × 10 -15 ]. After adjusting for multiple comparisons, we found significant ( P ≤ 0.05) negative phenotypic correlations between carotenoid concentrations and the following traits: BMI, WC, FM, and triglycerides (range: α-carotene = -0.19 to -0.12; β-carotene = -0.24 to -0.13) and positive correlations with HDL cholesterol (α-carotene = 0.17; β-carotene = 0.24). However, when the phenotypic correlations were partitioned into genetic and environmental correlations, we found marginally significant ( P = 0.051) genetic correlations only between

  12. Lateral sesamoid position in hallux valgus: correlation with the conventional radiological assessment.

    Science.gov (United States)

    Agrawal, Yuvraj; Desai, Aravind; Mehta, Jaysheel

    2011-12-01

    We aimed to quantify the severity of the hallux valgus based on the lateral sesamoid position and to establish a correlation of our simple assessment method with the conventional radiological assessments. We reviewed one hundred and twenty two dorso-plantar weight bearing radiographs of feet. The intermetatarsal and hallux valgus angles were measured by the conventional methods; and the position of lateral sesamoid in relation to first metatarsal neck was assessed by our new and simple method. Significant correlation was noted between intermetatarsal angle and lateral sesamoid position (Rho 0.74, p lateral sesamoid position and hallux valgus angle (Rho 0.56, p lateral sesamoid position is simple, less time consuming and has statistically significant correlation with that of the established conventional radiological measurements. Copyright © 2011 European Foot and Ankle Society. Published by Elsevier Ltd. All rights reserved.

  13. Joint modeling of genetically correlated diseases and functional annotations increases accuracy of polygenic risk prediction.

    Directory of Open Access Journals (Sweden)

    Yiming Hu

    2017-06-01

    Full Text Available Accurate prediction of disease risk based on genetic factors is an important goal in human genetics research and precision medicine. Advanced prediction models will lead to more effective disease prevention and treatment strategies. Despite the identification of thousands of disease-associated genetic variants through genome-wide association studies (GWAS in the past decade, accuracy of genetic risk prediction remains moderate for most diseases, which is largely due to the challenges in both identifying all the functionally relevant variants and accurately estimating their effect sizes. In this work, we introduce PleioPred, a principled framework that leverages pleiotropy and functional annotations in genetic risk prediction for complex diseases. PleioPred uses GWAS summary statistics as its input, and jointly models multiple genetically correlated diseases and a variety of external information including linkage disequilibrium and diverse functional annotations to increase the accuracy of risk prediction. Through comprehensive simulations and real data analyses on Crohn's disease, celiac disease and type-II diabetes, we demonstrate that our approach can substantially increase the accuracy of polygenic risk prediction and risk population stratification, i.e. PleioPred can significantly better separate type-II diabetes patients with early and late onset ages, illustrating its potential clinical application. Furthermore, we show that the increment in prediction accuracy is significantly correlated with the genetic correlation between the predicted and jointly modeled diseases.

  14. Genetic and phenotypic correlations between surrogate measures of insulin release obtained from OGTT data

    DEFF Research Database (Denmark)

    Gjesing, Anette Marianne Prior; Ribel-Madsen, Rasmus; Harder, Marie Neergaard

    2015-01-01

    closely related to fasting insulin with a genetic correlation of 0.85. The effects of 82 selected susceptibility single nucleotide polymorphisms on these insulin secretion indices supported our interpretation of the data and added insight into the biological differences between the examined traits......AIMS/HYPOTHESIS: We examined the extent to which surrogate measures of insulin release have shared genetic causes. METHODS: Genetic and phenotypic correlations were calculated in a family cohort (n = 315) in which beta cell indices were estimated based on fasting and oral glucose-stimulated plasma...... glucose, serum C-peptide and serum insulin levels. Furthermore, we genotyped a large population-based cohort (n = 6,269) for common genetic variants known to associate with type 2 diabetes, fasting plasma glucose levels or fasting serum insulin levels to examine their association with various indices...

  15. Genetic correlations between behavioural responses and performance traits in laying hens

    Directory of Open Access Journals (Sweden)

    Iwona Rozempolska-Rucińska

    2017-12-01

    Full Text Available Objective The aim of the study was to evaluate genetic correlations between the behavioural profile and performance in laying hens as an indirect answer to the question whether the observed behavioural responses are associated with increased levels of stress in these birds. Methods The assessment of birds’ temperament was carried out using the novel objects test. The behavioural test was conducted in two successive generations comprising 9,483 Rhode Island White (RIW birds (approx. 4,700 individuals per generation and 4,326 Rhode Island Red (RIR birds (approx. 2,100 individuals per generation. Based on the recorded responses, the birds were divided into two groups: a fearful profile (1,418 RIW hens and 580 RIR hens and a brave/curious profile (8,065 RIW hens and 3,746 RIR hens. The birds were subjected to standard assessment of their performance traits, including SM, age at sexual maturity; ST, shell thickness; SG, egg specific gravity; EW, mean egg weight; IP, initial egg production; and HC, number of hatched chicks. The pedigree was three generations deep (including two behaviour-recorded generations. Estimation of the (covariance components was performed with the Gibbs sampling method, which accounts for the discrete character of the behavioural profile denotation. Results The analyses revealed negative correlations between the performance traits of the laying hens and the behavioural profile defined as fearful. In the group of fearful RIW birds, delayed sexual maturation (0.22 as well as a decrease in the initial egg production (−0.30, egg weight (−0.54, egg specific gravity (−0.331, shell thickness (−0.11, and the number of hatched chicks (−0.24 could be expected. These correlations were less pronounced in the RIR breed, in which the fearful birds exhibited a decline in hatchability (−0.37, egg specific gravity (−0.11, and the number of hatched chicks (−0.18. There were no correlations in the case of the other traits or

  16. Genetic correlations between body condition scores and fertility in dairy cattle using bivariate random regression models.

    Science.gov (United States)

    De Haas, Y; Janss, L L G; Kadarmideen, H N

    2007-10-01

    Genetic correlations between body condition score (BCS) and fertility traits in dairy cattle were estimated using bivariate random regression models. BCS was recorded by the Swiss Holstein Association on 22,075 lactating heifers (primiparous cows) from 856 sires. Fertility data during first lactation were extracted for 40,736 cows. The fertility traits were days to first service (DFS), days between first and last insemination (DFLI), calving interval (CI), number of services per conception (NSPC) and conception rate to first insemination (CRFI). A bivariate model was used to estimate genetic correlations between BCS as a longitudinal trait by random regression components, and daughter's fertility at the sire level as a single lactation measurement. Heritability of BCS was 0.17, and heritabilities for fertility traits were low (0.01-0.08). Genetic correlations between BCS and fertility over the lactation varied from: -0.45 to -0.14 for DFS; -0.75 to 0.03 for DFLI; from -0.59 to -0.02 for CI; from -0.47 to 0.33 for NSPC and from 0.08 to 0.82 for CRFI. These results show (genetic) interactions between fat reserves and reproduction along the lactation trajectory of modern dairy cows, which can be useful in genetic selection as well as in management. Maximum genetic gain in fertility from indirect selection on BCS should be based on measurements taken in mid lactation when the genetic variance for BCS is largest, and the genetic correlations between BCS and fertility is strongest.

  17. Sexual selection on spontaneous mutations strengthens the between-sex genetic correlation for fitness.

    Science.gov (United States)

    Allen, Scott L; McGuigan, Katrina; Connallon, Tim; Blows, Mark W; Chenoweth, Stephen F

    2017-10-01

    A proposed benefit to sexual selection is that it promotes purging of deleterious mutations from populations. For this benefit to be realized, sexual selection, which is usually stronger on males, must purge mutations deleterious to both sexes. Here, we experimentally test the hypothesis that sexual selection on males purges deleterious mutations that affect both male and female fitness. We measured male and female fitness in two panels of spontaneous mutation-accumulation lines of the fly, Drosophila serrata, each established from a common ancestor. One panel of mutation accumulation lines limited both natural and sexual selection (LS lines), whereas the other panel limited natural selection, but allowed sexual selection to operate (SS lines). Although mutation accumulation caused a significant reduction in male and female fitness in both the LS and SS lines, sexual selection had no detectable effect on the extent of the fitness reduction. Similarly, despite evidence of mutational variance for fitness in males and females of both treatments, sexual selection had no significant impact on the amount of mutational genetic variance for fitness. However, sexual selection did reshape the between-sex correlation for fitness: significantly strengthening it in the SS lines. After 25 generations, the between-sex correlation for fitness was positive but considerably less than one in the LS lines, suggesting that, although most mutations had sexually concordant fitness effects, sex-limited, and/or sex-biased mutations contributed substantially to the mutational variance. In the SS lines this correlation was strong and could not be distinguished from unity. Individual-based simulations that mimick the experimental setup reveal two conditions that may drive our results: (1) a modest-to-large fraction of mutations have sex-limited (or highly sex-biased) fitness effects, and (2) the average fitness effect of sex-limited mutations is larger than the average fitness effect of

  18. Genetic variation and correlation of agronomic traits in meadow bromegrass (Bromus riparius Rehm clones

    Directory of Open Access Journals (Sweden)

    Araújo Marcelo Renato Alves de

    2004-01-01

    Full Text Available Meadow bromegrass (Bromus riparius Rehm. is a recently introduced pasture grass in western Canada. Its leafy production and rapid regrowth have made it a major grass species for pasturing beef animals in this region. As relatively little breeding work has been done on this species, there is little information on its breeding behaviour. The main objective of this study was to estimate total genetic variability, broad-sense heritability, phenotypic and genetic correlations. Forty-four meadow bromegrass clones were evaluated for agronomic characters. Genetic variation for dry matter yield, seed yield, fertility index, harvest index, plant height, plant spread, crude protein, neutral detergent fiber and acid detergent fiber, was significant. Broad-sense heritability estimates exceeded 50% for all characters. Heritability estimates were at least 3.5 times greater than their standard errors. Phenotypic and genetic correlation between all possible characters were measured. There was general agreement in both sign and magnitude between genetic and phenotypic correlations. Correlations between the different characters demonstrated that it is possible to simultaneously improve seed and forage yield. Based on the results, it appears that the development of higher yielding cultivars with higher crude protein, and lower acid and neutral detergent fibers concentration should be possible.

  19. Genetic Correlations between Young Horse and Dressage Competition Results in Danish Warmblood Horses

    DEFF Research Database (Denmark)

    Jönsson, Lina Johanna Maria; Christiansen, Karina; Holm, Maiken

    2014-01-01

    .13˗0.48) than the breeding goal trait of dressage competition results (0.16). Young horse results showed medium high to high genetic correlations to dressage competition results (0.32˗0.91) where most recorded young horse gait- and conformation scores contributed with considerable information to future dressage...... competition results. If considering both accuracy of each young horse trait and genetic correlation to dressage competition results, as rg×rIA, the best young horse indicator traits for future performance were capacity, trot, canter, and rideability, all under own rider. Most important conformation traits...

  20. Positive Aspects of Caregiving and Its Correlates among Caregivers of Bipolar Affective Disorder.

    Science.gov (United States)

    Grover, S; Kate, N; Chakrabarti, S; Avasthi, A

    2017-12-01

    To evaluate the positive aspects of caregiving and its correlates (socio-demographic and clinical variables, caregiver burden, coping, quality of life, psychological morbidity) in the primary caregivers of patients with bipolar affective disorder (BPAD). A total of 60 primary caregivers of patients with a diagnosis of BPAD were evaluated on the Scale for Positive Aspects of Caregiving Experience (SPACE) and the Hindi version of Involvement Evaluation Questionnaire, Family Burden Interview Schedule (FBIS), modified Hindi version of Coping Checklist, shorter Hindi version of the World Health Organization Quality of Life (WHOQOL-BREF), and Hindi translated version of 12-item General Health Questionnaire (GHQ-12). Caregivers of patients with BPAD had the highest mean score in the SPACE domain of Motivation for caregiving role (2.45), followed by Caregiver satisfaction (2.38) and Caregiving personal gains (2.20). The mean score was the lowest for the domain of Self-esteem and social aspect of caring (2.01). In terms of correlations, age of onset of BPAD had a negative correlation with various domains of SPACE. The mean number of total lifetime affective and depressive episodes correlated positively with Self-esteem and social aspect of caring. Caregiver satisfaction correlated negatively with FBIS domains of Disruption of routine family activities, Effect on mental health of others, and subjective burden. Coercion as a coping mechanism correlated positively with domains of Caregiving personal gains, Caregiver satisfaction, and the total score on SPACE. Three (Physical health, Psychological health, Environment) out of 5 domains of the WHOQOL-BREF correlated positively with the total SPACE score. No association was noted between GHQ-12 and SPACE scores. Positive caregiving experience in primary caregivers of patients with BPAD is associated with better quality of life of the caregivers.

  1. Exotic species and genetically modified organisms in aquaculture and enhanced fisheries: ICLARM's position

    OpenAIRE

    Pullin, R.S.V.

    1994-01-01

    This article contains a discussion paper on the use of exotic species and genetically modified organisms in aquaculture and enhanced fisheries, together with a summary of ICLARM's (International Center for Living Aquatic Resources Management, Philippines) current position on this important topic.

  2. Genetic diversity of Trichomonas vaginalis reinfection in HIV-positive women.

    Science.gov (United States)

    Conrad, Melissa D; Kissinger, Patricia; Schmidt, Norine; Martin, David H; Carlton, Jane M

    2013-09-01

    Recently developed genotyping tools allow better understanding of Trichomonas vaginalis population genetics and epidemiology. These tools have yet to be applied to T vaginalis collected from HIV+ populations, where understanding the interaction between the pathogens is of great importance due to the correlation between T vaginalis infection and HIV transmission. The objectives of the study were twofold: first, to compare the genetic diversity and population structure of T vaginalis collected from HIV+ women with parasites from reference populations; second, to use the genetic markers to perform a case study demonstrating the usefulness of these techniques in investigating the mechanisms of repeat infections. Repository T vaginalis samples from a previously described treatment trial were genotyped at 11 microsatellite loci. Estimates of genetic diversity and population structure were determined using standard techniques and compared with previously reported estimates of global populations. Genotyping data were used in conjunction with behavioural data to evaluate mechanisms of repeat infections. T vaginalis from HIV+ women maintain many of the population genetic characteristics of parasites from global reference populations. Although there is evidence of reduced diversity and bias towards type 1 parasites in the HIV+ population, the populations share a two-type population structure and parasite haplotypes. Genotyping/behavioural data suggest that 36% (12/33) of repeat infections in HIV+ women can be attributed to treatment failure. T vaginalis infecting HIV+ women is not genetically distinct from T vaginalis infecting reference populations. Information from genotyping can be valuable for understanding mechanisms of repeat infections.

  3. ADAM10 mediates trastuzumab resistance and is correlated with survival in HER2 positive breast cancer

    Science.gov (United States)

    Feldinger, Katharina; Generali, Daniele; Kramer-Marek, Gabriela; Gijsen, Merel; Ng, Tzi Bun; Wong, Jack Ho; Strina, Carla; Cappelletti, Mariarosa; Andreis, Daniele; Li, Ji-Liang; Bridges, Esther; Turley, Helen; Leek, Russell; Roxanis, Ioannis; Capala, Jacek; Murphy, Gillian; Harris, Adrian L.; Kong, Anthony

    2014-01-01

    Trastuzumab prolongs survival in HER2 positive breast cancer patients. However, resistance remains a challenge. We have previously shown that ADAM17 plays a key role in maintaining HER2 phosphorylation during trastuzumab treatment. Beside ADAM17, ADAM10 is the other well characterized ADAM protease responsible for HER ligand shedding. Therefore, we studied the role of ADAM10 in relation to trastuzumab treatment and resistance in HER2 positive breast cancer. ADAM10 expression was assessed in HER2 positive breast cancer cell lines and xenograft mice treated with trastuzumab. Trastuzumab treatment increased ADAM10 levels in HER2 positive breast cancer cells (p≤0.001 in BT474; p≤0.01 in SKBR3) and in vivo (p≤0.0001) compared to control, correlating with a decrease in PKB phosphorylation. ADAM10 inhibition or knockdown enhanced trastuzumab response in naïve and trastuzumab resistant breast cancer cells. Trastuzumab monotherapy upregulated ADAM10 (p≤0.05); and higher pre-treatment ADAM10 levels correlated with decreased clinical response (p≤0.05) at day 21 in HER2 positive breast cancer patients undergoing a trastuzumab treatment window study. Higher ADAM10 levels correlated with poorer relapse-free survival (p≤0.01) in a cohort of HER2 positive breast cancer patients. Our studies implicate a role of ADAM10 in acquired resistance to trastuzumab and establish ADAM10 as a therapeutic target and a potential biomarker for HER2 positive breast cancer patients. PMID:24952873

  4. Correlation between oro and hypopharynx shape and position with endotracheal intubation difficulty

    Directory of Open Access Journals (Sweden)

    Daher Rabadi

    2014-12-01

    Full Text Available Background and objective: Prediction of intubation difficulty can save patients from major preoperative morbidity or mortality. The purpose of this paper is to assess the correlation between oro-hypo pharynx position, neck size, and length with endotracheal intubation difficulty. The study also explored the diagnostic value of Friedman Staging System in prediction cases with difficult intubation. Method: The consecutive 500 ASA (I, II adult patients undergoing elective surgery were evaluated for oro and hypopharynx shape and position by modified Mallampati, Cormack and Lehane score as well as Friedman obstructive sleep apnea classification systems. Neck circumference and length were also measured. All cases were intubated by a single anesthesiologist who was uninformed of the above evaluation and graded intubation difficulty in visual analog score. Correlation between these findings and difficulty of intubation was assessed. Sensitivity, Specificity, Positive and Negative Predictive Values were also reported. Results: Cormack-Lehane grade had the strongest correlation with difficulty of intubation followed by Friedman palate position. Friedman palate position was the most sensitive and had higher positive and negative predictive values than modified Mallampati classification. Cormack-Lehane grade was found to be the most specific with the highest negative predictive value among the four studied classifications. Conclusion: Friedman palate position is a more useful, valuable and sensitive test compared to the modified Mallampati screening test for pre-anesthetic prediction of difficult intubation where its involvement in Multivariate model may raise the accuracy and diagnostic value of preoperative assessment of difficult airway.

  5. Correlation between working positions and lactic acid levels with musculoskeletal complaints among dentists

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    Fiory Dioptis Putriwijaya

    2016-12-01

    Full Text Available Background: Musculoskeletal complaints have been common for dentists since their body is unknowingly often in inappropriate positions when caring for patients. For example, they bend towards patients, suddenly move, and then rotate from one side to another. The repetitive movements are done in long term. High activities and sufficient recovery time can cause a buildup of lactic acid in their blood leading to obstruction of the energy intake from the aerobic system in their muscle cells, resulting in fatigue. As a result, such conditions trigger decreased muscle performances. Purpose: This study aimed to determine the correlation between working positions and lactic acid levels with the risk of musculoskeletal disorders among dentists at Public Health Centers in Surabaya. Method: This research was an analytical observational research using cross sectional approach. Sampling technique used in this research was cluster random sampling with nineteen samples. To evaluate the working positions of those samples, a rapid entire body assessment (REBA method was used. Meanwhile, to observe the musculoskeletal disorders of those samples, a Nordic body map was used. Data obtained then were analyzed using Pearson correlation test with a significance level (p<0.05. Result: Results of data analysis using the Pearson correlation test showed that the significance value obtained was 0.036. It indicates that there was a correlation between the working positions and the lactic acid levels with the musculoskeletal disorders in those dentists. The results of the Pearson correlation test also revealed that there was a correlation between the working positions and the lactic acid levels among those dentists with a significance value of 0.025. Conclusion: It may be concluded that the wrong body positions during working can increase lactic acid level in the body of dentists. The increased level of lactic acid then can affect their muscles, leading to the high risk of

  6. Genetic Structure of Bluefin Tuna in the Mediterranean Sea Correlates with Environmental Variables

    Science.gov (United States)

    Riccioni, Giulia; Stagioni, Marco; Landi, Monica; Ferrara, Giorgia; Barbujani, Guido; Tinti, Fausto

    2013-01-01

    Background Atlantic Bluefin Tuna (ABFT) shows complex demography and ecological variation in the Mediterranean Sea. Genetic surveys have detected significant, although weak, signals of population structuring; catch series analyses and tagging programs identified complex ABFT spatial dynamics and migration patterns. Here, we tested the hypothesis that the genetic structure of the ABFT in the Mediterranean is correlated with mean surface temperature and salinity. Methodology We used six samples collected from Western and Central Mediterranean integrated with a new sample collected from the recently identified easternmost reproductive area of Levantine Sea. To assess population structure in the Mediterranean we used a multidisciplinary framework combining classical population genetics, spatial and Bayesian clustering methods and a multivariate approach based on factor analysis. Conclusions FST analysis and Bayesian clustering methods detected several subpopulations in the Mediterranean, a result also supported by multivariate analyses. In addition, we identified significant correlations of genetic diversity with mean salinity and surface temperature values revealing that ABFT is genetically structured along two environmental gradients. These results suggest that a preference for some spawning habitat conditions could contribute to shape ABFT genetic structuring in the Mediterranean. However, further studies should be performed to assess to what extent ABFT spawning behaviour in the Mediterranean Sea can be affected by environmental variation. PMID:24260341

  7. [Longitudinal genetic effects on mandibular position of female twins from six to twelve years old].

    Science.gov (United States)

    Zhu, Chang-feng; Peng, Jing

    2013-06-01

    To find the longitudinal genetic effects on mandibular position in mixed dentition. The sample used in this study consisted of lateral cephalograms of eighty-nine pairs of female twins in Beijing. With a mixed longitudinal method, the effective twins were 183 pairs(monozygous 110 pairs and dizygous 73 ones). The genetic and environmental effects on mandibular position were analyzed by statistical methods in female twins from six to twelve years old. Statistical comparisons revealed significant (Pchin is the most subjective to environment change, then the mandibular angle, and the condyle is the least. Using N and S as references, the environmental influence on heights showed different order from the most to least changeable: The mandibular angle, the condyle and the chin. In later stage of our observation, the mandibular morphology and growth type might be family inherited. For environmental influences plays important roles on mandibular position, these findings can be used in orthodontic treatment planning.

  8. Heritability and genetic correlations for volume, foxtails, and other characteristics of Caribbean pine in Puerto Rico

    Science.gov (United States)

    F. Thomas Ledig; J.L. Whitmore

    1981-01-01

    Caribbean pine is an important exotic being bred throughout the tropics, but published estimates are lacking for heritability of economically important traits and the genetic correlations between them. Based on a Puerto Rican trial of 16 open-pollinated parents of var. hondurensis selected in Belize, heritabilities for a number of characteristics...

  9. Significant Locus and Metabolic Genetic Correlations Revealed in Genome-Wide Association Study of Anorexia Nervosa

    NARCIS (Netherlands)

    Duncan, Laramie; Yilmaz, Zeynep; Gaspar, Helena; Walters, Raymond K.; Goldstein, Jackie; Anttila, Verneri; Bulik-Sullivan, Brendan; Ripke, Stephan; Thornton, Laura M.; Hinney, Anke; Daly, Mark J.; Sullivan, Patrick F; Zeggini, Eleftheria; Breen, Gerome; Bulik, Cynthia M.; Adan, RAH

    2017-01-01

    Objective: The authors conducted a genome-wide association study of anorexia nervosa and calculated genetic correlations with a series of psychiatric, educational, and metabolic phenotypes. Method: Following uniformquality control and imputation procedures using the 1000 Genomes Project (phase 3) in

  10. Significant locus and metabolic genetic correlations revealed in genome-wide association study of anorexia nervosa

    NARCIS (Netherlands)

    Duncan, Laramie; Yilmaz, Zeynep; Gaspar, Helena; Walters, Raymond; Goldstein, Jackie; Anttila, Verneri; Bulik-Sullivan, Brendan; Ripke, Stephan; Thornton, Laura; Hinney, Anke; Daly, Mark; Sullivan, Patrick F; Zeggini, Eleftheria; Breen, Gerome; Bulik, Cynthia M; Kas, Martinus J.H.

    2017-01-01

    OBJECTIVE: The authors conducted a genome-wide association study of anorexia nervosa and calculated genetic correlations with a series of psychiatric, educational, and metabolic phenotypes. METHOD: Following uniform quality control and imputation procedures using the 1000 Genomes Project (phase 3)

  11. Sardinians genetic background explained by runs of homozygosity and genomic regions under positive selection.

    Directory of Open Access Journals (Sweden)

    Cornelia Di Gaetano

    Full Text Available The peculiar position of Sardinia in the Mediterranean sea has rendered its population an interesting biogeographical isolate. The aim of this study was to investigate the genetic population structure, as well as to estimate Runs of Homozygosity and regions under positive selection, using about 1.2 million single nucleotide polymorphisms genotyped in 1077 Sardinian individuals. Using four different methods--fixation index, inflation factor, principal component analysis and ancestry estimation--we were able to highlight, as expected for a genetic isolate, the high internal homogeneity of the island. Sardinians showed a higher percentage of genome covered by RoHs>0.5 Mb (F(RoH%0.5 when compared to peninsular Italians, with the only exception of the area surrounding Alghero. We furthermore identified 9 genomic regions showing signs of positive selection and, we re-captured many previously inferred signals. Other regions harbor novel candidate genes for positive selection, like TMEM252, or regions containing long non coding RNA. With the present study we confirmed the high genetic homogeneity of Sardinia that may be explained by the shared ancestry combined with the action of evolutionary forces.

  12. On bounded rank positive semidefinite matrix completions of extreme partial correlation matrices.

    NARCIS (Netherlands)

    M. Eisenberg-Nagy (Marianna); M. Laurent (Monique); A. Varvitsiotis (Antonios)

    2012-01-01

    htmlabstractWe study a new geometric graph parameter egd(G), defined as the smallest integer r ≥ 1 for which any partial symmetric matrix which is completable to a correlation matrix and whose entries are specified at the positions of the edges of G, can be completed to a matrix in the convex hull

  13. On bounded rank positive semidefinite matrix completions of extreme partial correlation matrices.

    NARCIS (Netherlands)

    M. Eisenberg-Nagy (Marianna); M. Laurent (Monique); A. Varvitsiotis (Antonios)

    2012-01-01

    textabstractWe study a new geometric graph parameter $egd(G)$, defined as the smallest integer $r\\ge 1$ for which any partial symmetric matrix which is completable to a correlation matrix and whose entries are specified at the positions of the edges of $G$, can be completed to a matrix in the convex

  14. Correlation between orbital volume, body mass index, and eyeball position in healthy East asians.

    Science.gov (United States)

    Yoo, Jun Ho; Lee, Young Hen; Lee, Hwa; Kim, Jung Wan; Chang, Minwook; Park, Minsoo; Baek, Sehyun

    2013-05-01

    The objectives of this study were measure the orbital volume of healthy Koreans and analyze the differences between orbital tissue volume with respect to age and sex and to assess any correlation between body mass index (BMI), eyeball position, and orbital volume. We retrospectively evaluated the scan results of patients who had undergone orbital computed tomography scans between November 2010 and November 2011. We assessed the scan results of 184 orbits in 92 adults who had no pathology of the orbit. The individuals were classified into 3 groups with respect to age. Orbital volume, effective orbital volume (defined as the difference between orbital and eyeball volume), extraocular muscle volume, orbital fat volume, and transverse globe protrusion were recorded and analyzed. The records of the subjects were reviewed retrospectively, and BMI was calculated. A correlation analysis was performed to investigate the correlation between BMI, eyeball position, and orbital volume. Orbital tissue volume, with the exception of orbital fat volume, was larger in men compared with women. In both sexes, orbital fat volume increased with increasing age, whereas the other volumes decreased. Orbital tissue volumes increased with increasing BMI, but transverse globe protrusion was not significantly related to BMI. In addition, orbital volume and effective orbital volume were positively correlated with transverse globe protrusion. These results provide basic information about the effects of age, sex, and BMI on orbital volume and eyeball position in healthy Koreans. Furthermore, these results will be helpful in the diagnosis of orbital diseases and in planning orbital surgeries.

  15. Correlation of the highest-energy cosmic rays with the positions of nearby active galactic nuclei

    NARCIS (Netherlands)

    Abraham, J.; Abreu, P.; Aglietta, M.; Aguirre, C.; Allard, D.; Allekotte, I.; Allen, J.; Allison, P.; Alvarez-Muniz, J.; Ambrosio, M.; Anchordoqui, L.; Andringa, S.; Anzalone, A.; Aramo, C.; Argiro, S.; Arisaka, K.; Armengaud, E.; Arneodo, F.; Arqueros, F.; Asch, T.; Asorey, H.; Assis, P.; Atulugama, B. S.; Aublin, J.; Ave, M.; Avila, G.; Baecker, T.; Badagnani, D.; Barbosa, A. F.; Barnhill, D.; Barroso, S. L. C.; Bauleo, P.; Beatty, J. J.; Beau, T.; Becker, B. R.; Becker, K. H.; Bellido, J. A.; BenZvi, S.; Berat, C.; Bergmann, T.; Bernardini, P.; Bertou, X.; Biermann, P. L.; Billoir, P.; Blanch-Bigas, O.; Blanco, F.; Blasi, P.; Bleve, C.; Bluemer, H.; Bohacova, M.; Bonifazi, C.; Bonino, R.; Brack, J.; Brogueira, P.; Brown, W. C.; Buchholz, P.; Bueno, A.; Burton, R. E.; Busca, N. G.; Caballero-Mora, K. S.; Cai, B.; Camin, D. V.; Caramete, L.; Caruso, R.; Carvalho, W.; Castellina, A.; Catalano, O.; Cataldi, G.; Cazon, L.; Cester, R.; Chauvin, J.; Chiavassa, A.; Chinellato, J. A.; Chou, A.; Chye, J.; Clay, R. W.; Colombo, E.; Conceicao, R.; Connolly, B.; Contreras, F.; Coppens, J.; Cordier, A.; Cotti, U.; Coutu, S.; Covault, C. E.; Creusot, A.; Criss, A.; Cronin, J.; Curutiu, A.; Dagoret-Campagne, S.; Daumiller, K.; Dawson, B. R.; de Almeida, R. M.; De Donato, C.; Bg, S. J. de Jong; De La Vega, G.; de Mello, W. J. M.; de Mello Neto, J. R. T.; De Mitri, I.; de Souza, V.; del Peral, L.; Deligny, O.; Della Selva, A.; Delle Fratte, C.; Dembinski, H.; Di Giulio, C.; Diaz, J. C.; Diep, P. N.; Dobrigkeit, C.; D'Olivo, J. C.; Dong, P. N.; Dornic, D.; Dorofeev, A.; dos Anjos, J. C.; Dova, M. T.; D'Urso, D.; Dutan, I.; DuVernois, M. A.; Engel, R.; Epele, L.; Escobar, C. O.; Etchegoyen, A.; Luis, P. Facal San; Falcke, H.; Farrar, G.; Fauth, A. C.; Fazzini, N.; Ferrer, F.; Ferry, S.; Fick, B.; Filevich, A.; Filipcic, A.; Fleck, I.; Fracchiolla, C. E.; Fulgione, W.; Garcia, B.; Gaimez, D. Garcia; Garcia-Pinto, D.; Garrido, X.; Geenen, H.; Gelmini, G.; Gemmeke, H.; Ghia, P. L.; Giller, M.; Glass, H.; Gold, M. S.; Golup, G.; Albarracin, F. Gomez; Berisso, M. Gomez; Herrero, R. Gomez; Goncalves, P.; do Amaral, M. Goncalves; Gonzalez, D.; Gonzalezc, J. G.; Gonzalez, M.; Gora, D.; Gorgi, A.; Gouffon, P.; Grassi, V.; Grillo, A. F.; Grunfeld, C.; Guardincerri, Y.; Guarino, F.; Guedes, G. P.; Gutierrez, J.; Hague, J. D.; Hamilton, J. C.; Hansen, P.; Harari, D.; Harmsma, S.; Harton, J. L.; Haungs, A.; Hauschildt, T.; Healy, M. D.; Hebbeker, T.; Hebrero, G.; Heck, D.; Hojvat, C.; Holmes, V. C.; Homola, P.; Hoerandel, J.; Horneffer, A.; Horvat, M.; Hrabovsky, M.; Huege, T.; Hussain, M.; Larlori, M.; Insolia, A.; Ionita, F.; Italiano, A.; Kaducak, M.; Kampert, K. H.; Karova, T.; Kegl, B.; Keilhauer, B.; Kemp, E.; Kieckhafer, R. M.; Klages, H. O.; Kleifges, M.; Kleinfeller, J.; Knapik, R.; Knapp, J.; Koanga, V. -H.; Krieger, A.; Kroemer, O.; Kuempel, D.; Kunka, N.; Kusenko, A.; La Rosa, G.; Lachaud, C.; Lago, B. L.; Lebrun, D.; LeBrun, P.; Lee, J.; de Oliveira, M. A. Leigui; Lopez, R.; Letessier-Selvon, A.; Leuthold, M.; Lhenry-Yvon, I.; Aguera, A. Lopez; Bahilo, J. Lozano; Garcia, R. Luna; Maccarone, M. C.; Macolino, C.; Maldera, S.; Mancarella, G.; Mancenido, M. E.; Mandatat, D.; Mantsch, P.; Mariazzi, A. G.; Maris, I. C.; Falcon, H. R. Marquez; Martello, D.; Martinez, J.; Bravo, O. Martinez; Mathes, H. J.; Matthews, J.; Matthews, J. A. J.; Matthiae, G.; Maurizio, D.; Mazur, P. O.; McCauley, T.; McEwen, M.; McNeil, R. R.; Medina, M. C.; Medina-Tanco, G.; Meli, A.; Melo, D.; Menichetti, E.; Menschikov, A.; Meurer, Chr.; Meyhandan, R.; Micheletti, M. I.; Miele, G.; Miller, W.; Mollerach, S.; Monasor, M.; Ragaigne, D. Monnier; Montanet, F.; Morales, B.; Morello, C.; Moreno, J. C.; Morris, C.; Mostafa, M.; Muller, M. A.; Mussa, R.; Navarra, G.; Navarro, J. L.; Navas, S.; Necesal, P.; Nellen, L.; Newman-Holmes, C.; Newton, D.; Nhung, P. T.; Nierstenhoefer, N.; Nitz, D.; Nosek, D.; Nozka, L.; Oehlschlaeger, J.; Ohnuki, T.; Olinto, A.; Olmos-Gilbaja, V. M.; Ortiz, M.; Ortolani, F.; Ostapchenko, S.; Otero, L.; Pacheco, N.; Selmi-Dei, D. Pakk; Palatka, M.; Pallotta, J.; Parente, G.; Parizot, E.; Parlati, S.; Pastor, S.; Patel, M.; Paul, T.; Pavlidou, V.; Payet, K.; Pech, M.; Pekala, J.; Pelayo, R.; Pepe, I. M.; Perrone, L.; Petrera, S.; Petrinca, P.; Petrov, Y.; Pichel, A.; Piegaia, R.; Pierog, T.; Pimenta, M.; Pinto, T.; Pirronello, V.; Pisanti, O.; Platino, M.; Pochon, J.; Privitera, P.; Prouza, M.; Quel, E. J.; Rautenberg, J.; Redondo, A.; Reucroft, S.; Revenu, B.; Rezende, F. A. S.; Ridky, J.; Riggi, S.; Risse, M.; Riviere, C.; Rizi, V.; Roberts, M.; Robledo, C.; Rodriguez, G.; Martino, J. Rodriguez; Rojo, J. Rodriguez; Rodriguez-Cabo, I.; Rodriguez-Frias, M. D.; Ros, G.; Rosado, J.; Roth, M.; Rouille-d'Orfeuil, B.; Roulet, E.; Roverok, A. C.; Salamida, F.; Salazar, H.; Salina, G.; Sanchez, F.; Santander, M.; Santo, C. E.; Santos, E. M.; Sarazin, F.; Sarkar, S.; Sato, R.; Scherini, V.; Schieler, H.; Schmidt, A.; Schmidt, F.; Schmidt, T.; Scholten, O.; Schovanek, P.; Schuessler, F.; Sciutto, S. J.; Scuderi, M.; Segreto, A.; Semikoz, D.; Settimo, M.; Shellard, R. C.; Sidelnik, I.; Siffert, B. B.; Sigl, G.; De Grande, N. Smetniansky; Smialkowski, A.; Smida, R.; Smith, A. G. K.; Smith, B. E.; Snow, G. R.; Sokolsky, P.; Sommers, P.; Sorokin, J.; Spinka, H.; Squartini, R.; Strazzeri, E.; Stutz, A.; Suarez, F.; Suomijarvi, T.; Supanitsky, A. D.; Sutherland, M. S.; Swain, J.; Szadkowski, Z.; Takahashi, J.; Tamashiro, A.; Tamburro, A.; Tascau, O.; Tcaciuc, R.; Thao, N. T.; Thomas, D.; Ticona, R.; Tiffenberg, J.; Timmermans, C.; Tkaczyk, W.; Peixoto, C. J. Todero; Tome, B.; Tonachini, A.; Torres, I.; Travnicek, P.; Tripathi, A.; Tristram, G.; Tscherniakhovski, D.; Tueros, M.; Ulrich, R.; Unger, M.; Urban, M.; Galicia, J. F. Valdes; Valino, I.; Valore, L.; van den Berg, A. M.; van Elewyck, V.; Vazquez, R. A.; Veberic, D.; Veiga, A.; Velarde, A.; Venters, T.; Verzi, V.; Videla, M.; Villasenor, L.; Vorobiov, S.; Voyvodic, L.; Wahlberg, H.; Wainberg, O.; Warner, D.; Watson, A. A.; Westerhoff, S.; Wieczorek, G.; Wiencke, L.; Wilczynska, B.; Wilczynski, H.; Wileman, C.; Winnick, M. G.; Wu, H.; Wundheiler, B.; Yamamoto, T.; Younk, P.; Zas, E.; Zavrtanik, D.; Zavrtanik, M.; Zech, A.; Zepeda, A.; Ziolkowski, M.

    Data collected by the Pierre Auger Observatory provide evidence for anisotropy in the arrival directions of the cosmic rays with the highest-energies, which are correlated with the positions of relatively nearby active galactic nuclei (AGN) [Pierre Auger Collaboration, Science 318 (2007) 938]. The

  16. Genetic correlations between wool traits and meat quality traits in Merino sheep.

    Science.gov (United States)

    Mortimer, S I; Hatcher, S; Fogarty, N M; van der Werf, J H J; Brown, D J; Swan, A A; Jacob, R H; Geesink, G H; Hopkins, D L; Edwards, J E Hocking; Ponnampalam, E N; Warner, R D; Pearce, K L; Pethick, D W

    2017-10-01

    Genetic correlations between 29 wool production and quality traits and 25 meat quality and nutritional value traits were estimated for Merino sheep from an Information Nucleus (IN). Genetic correlations among the meat quality and nutritional value traits are also reported. The IN comprised 8 flocks linked genetically and managed across a range of sheep production environments in Australia. The wool traits included over 5,000 yearling and 3,700 adult records for fleece weight, fiber diameter, staple length, staple strength, fiber diameter variation, scoured wool color, and visual scores for breech and body wrinkle. The meat quality traits were measured on samples from the and included over 1,200 records from progeny of over 170 sires for intramuscular fat (IMF), shear force of meat aged for 5 d (SF5), 24 h postmortem pH (pHLL; also measured in the , pHST), fresh and retail meat color and meat nutritional value traits such as iron and zinc levels, and long-chain omega-3 and omega-6 polyunsaturated fatty acid levels. Estimated heritabilities for IMF, SF5, pHLL, pHST, retail meat color lightness (), myoglobin, iron, zinc and across the range of long-chain fatty acids were 0.58 ± 0.11, 0.10 ± 0.09, 0.15 ± 0.07, 0.20 ± 0.10, 0.59 ± 0.15, 0.31 ± 0.09, 0.20 ± 0.09, 0.11 ± 0.09, and range of 0.00 (eicosapentaenoic, docosapentaenoic, and arachidonic acids) to 0.14 ± 0.07 (linoleic acid), respectively. The genetic correlations between the wool production and meat quality traits were low to negligible and indicate that wool breeding programs will have little or no effect on meat quality. There were moderately favorable genetic correlations between important yearling wool production traits and the omega-3 fatty acids that were reduced for corresponding adult wool production traits, but these correlations are unlikely to be important in wool/meat breeding programs because they have high SE, and the omega-3 traits have little or no genetic variance. Significant genetic

  17. Comorbid behavioural problems in Tourette's syndrome are positively correlated with the severity of tic symptoms.

    Science.gov (United States)

    Zhu, Yan; Leung, Kai Man; Liu, Po-zi; Zhou, Ming; Su, Lin-yan

    2006-01-01

    We studied the comorbid behavioural and mood problems in children with non-psychiatric Tourette's syndrome (TS) and their relationship with severity of tic disorder. Sixty-nine TS children and 69 healthy controls were assessed by Child Behavior Checklist (CBCL) and Yale Global Tic Severity Scale (YGTSS). The relationships between behavioural problems and severity of tic symptoms were analysed statistically by comparison, correlation and multiple linear regression. Tourette's syndrome patients scored significantly lower (ptic symptoms is positively correlated with the severity of overall impairment in school and social competence. When the behavioural and mood problems commonly associated with TS were studied in detail, we found that delinquent behaviour, thought problems, attention problems, aggressive behaviour and externalizing are positively correlated with severity of tic symptoms. The findings indicated that children with TS-only also had a broad range of behavioural problems, and some of these were related to the severity of tic symptoms.

  18. Genetic correlations between ewe reproduction and carcass and meat quality traits in Merino sheep.

    Science.gov (United States)

    Safari, E; Fogarty, N M; Hopkins, D L; Greeff, J C; Brien, F D; Atkins, K D; Mortimer, S I; Taylor, P J; van der Werf, J H J

    2008-12-01

    Genetic correlations between reproduction traits in ewes and carcass and meat quality traits in Merino rams were obtained using restricted maximum likelihood procedures. The carcass data were from 5870 Merino rams slaughtered at approximately 18 months of age that were the progeny of 543 sires from three research resource flocks over 7 years. The carcass traits included ultrasound scan fat and eye muscle depth (EMDUS) measured on live animals, dressing percentage and carcass tissue depth (at the GR site FATGR and C site FATC), eye muscle depth, width and area and the meat quality indicator traits of muscle final pH and colour (L*, a*, b*). The reproduction data consisted of 13 464 ewe joining records for number of lambs born and weaned and 9015 records for LS. The genetic correlations between reproduction and fat measurements were negative (range -0.06 +/- 0.12 to -0.37 +/- 0.12), with smaller correlations for live measurement than carcass traits. There were small favourable genetic correlations between reproduction traits and muscle depth in live rams (EMDUS, 0.10 +/- 0.12 to 0.20 +/- 0.12), although those with carcass muscle traits were close to zero. The reproduction traits were independent of meat colour L* (relative brightness), but tended to be favourably correlated with meat colour a* (relative redness, 0.12 +/- 0.17 to 0.19 +/- 0.16). There was a tendency for meat final pH to have small negative favourable genetic correlations with reproduction traits (0.05 +/- 0.11 to -0.17 +/- 0.12). This study indicates that there is no antagonism between reproduction traits and carcass and meat quality indicator traits, with scope for joint improvement of reproduction, carcass and meat quality traits in Merino sheep.

  19. Vantage Sensitivity: Environmental Sensitivity to Positive Experiences as a Function of Genetic Differences.

    Science.gov (United States)

    Pluess, Michael

    2017-02-01

    A large number of gene-environment interaction studies provide evidence that some people are more likely to be negatively affected by adverse experiences as a function of specific genetic variants. However, such "risk" variants are surprisingly frequent in the population. Evolutionary analysis suggests that genetic variants associated with increased risk for maladaptive development under adverse environmental conditions are maintained in the population because they are also associated with advantages in response to different contextual conditions. These advantages may include (a) coexisting genetic resilience pertaining to other adverse influences, (b) a general genetic susceptibility to both low and high environmental quality, and (c) a coexisting propensity to benefit disproportionately from positive and supportive exposures, as reflected in the recent framework of vantage sensitivity. After introducing the basic properties of vantage sensitivity and highlighting conceptual similarities and differences with diathesis-stress and differential susceptibility patterns of gene-environment interaction, selected and recent empirical evidence for the notion of vantage sensitivity as a function of genetic differences is reviewed. The unique contribution that the new perspective of vantage sensitivity may make to our understanding of social inequality will be discussed after suggesting neurocognitive and molecular mechanisms hypothesized to underlie the propensity to benefit disproportionately from benevolent experiences. © 2015 Wiley Periodicals, Inc.

  20. Correlations between heterozygosity and measures of genetic similarity: implications for understanding mate choice.

    Science.gov (United States)

    Roberts, S C; Hale, M L; Petrie, M

    2006-03-01

    There is currently considerable interest in testing the effects of genetic compatibility and heterozygosity on animal mate preferences. Evidence for either effect is rapidly accumulating, although results are not always clear-cut. However, correlations between mating preferences and either genetic similarity or heterozygosity are usually tested independently, and the possibility that similarity and heterozygosity may be confounded has rarely been taken into account. Here we show that measures of genetic similarity (allele sharing, relatedness) may be correlated with heterozygosity, using data from 441 human individuals genotyped at major loci in the major histocompatibility complex, and 281 peafowl (Pavo cristatus) individuals genotyped at 13 microsatellite loci. We show that average levels of allele sharing and relatedness are each significantly associated with heterozygosity in both humans and peafowl, that these relationships are influenced by the level of polymorphism, and that these similarity measures may correlate with heterozygosity in qualitatively different ways. We discuss the implications of these inter-relationships for interpretation of mate choice studies. It has recently become apparent that mating preferences for 'good genes' and 'compatible genes' may introduce discordant choice amongst individuals, since the optimal mate for one trait may not be optimal for the other, and our results are consistent with this idea. The inter-relationship between these measures of genetic quality also carries implications for the way in which mate choice studies are designed and interpreted, and generates predictions that can be tested in future research.

  1. Prevalence, heritability and genetic correlations of congenital sensorineural deafness and pigmentation phenotypes in the Border Collie.

    Science.gov (United States)

    De Risio, Luisa; Lewis, Tom; Freeman, Julia; de Stefani, Alberta; Matiasek, Lara; Blott, Sarah

    2011-06-01

    The objectives of this study were to estimate prevalence, heritability and genetic correlations of congenital sensorineural deafness (CSD) and pigmentation phenotypes in the Border Collie. Entire litters of Border Collies that presented to the Animal Health Trust (1994-2008) for assessment of hearing status by brain stem auditory evoked response (BAER) at 4-10 weeks of age were included. Heritability and genetic correlations were estimated using residual maximum likelihood (REML). Of 4143 puppies that met the inclusion criteria, 97.6% had normal hearing status, 2.0% were unilaterally deaf and 0.4% were bilaterally deaf. Heritability of deafness as a trichotomous trait (normal/unilaterally deaf/bilaterally deaf) was estimated at 0.42 using multivariate analysis. Genetic correlations of deafness with iris colour and merle coat colour were 0.58 and 0.26, respectively. These results indicate that there is a significant genetic effect on CSD in Border Collies and that some of the genes determining deafness also influence pigmentation phenotypes. Copyright © 2010 Elsevier Ltd. All rights reserved.

  2. Convergence of genetic and environmental factors on parvalbumin-positive interneurons in schizophrenia

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    Zhihong eJiang

    2013-09-01

    Full Text Available Schizophrenia etiology is thought to involve an interaction between genetic and environmental factors during postnatal brain development. However, there is a fundamental gap in our understanding of the molecular mechanisms by which environmental factors interact with genetic susceptibility to trigger symptom onset and disease progression. In this review, we summarize the most recent findings implicating oxidative stress as one mechanism by which environmental insults, especially early life social stress, impact the development of schizophrenia. Based on a review of the literature and the results of our own animal model, we suggest that environmental stressors such as social isolation render parvalbumin-positive interneurons vulnerable to oxidative stress. We previously reported that social isolation stress exacerbates many of the schizophrenia-like phenotypes seen in a conditional genetic mouse model of schizophrenia in which NMDARs are selectively ablated in half of cortical and hippocampal interneurons during early postnatal development (Belforte et al., 2010. We have since revealed that this social isolation-induced effect is caused by impairments in the antioxidant defense capacity in the parvalbumin-positive interneurons in which NMDARs are ablated. We propose that this effect is mediated by the down-regulation of PGC-1α, a master regulator of mitochondrial energy metabolism and anti-oxidant defense, following the deletion of NMDARs (Jiang et al, 2013. Other potential molecular mechanisms underlying redox dysfunction upon gene and environmental interaction will be discussed, with a focus on the unique properties of parvalbumin-positive interneurons.

  3. Egg incubation effects generate positive correlations between size, speed and learning ability in young lizards.

    Science.gov (United States)

    Amiel, Joshua Johnstone; Lindström, Tom; Shine, Richard

    2014-03-01

    Previous studies have suggested that body size and locomotor performance are targets of Darwinian selection in reptiles. However, much of the variation in these traits may derive from phenotypically plastic responses to incubation temperature, rather than from underlying genetic variation. Intriguingly, incubation temperature may also influence cognitive traits such as learning ability. Therefore, we might expect correlations between a reptile's size, locomotor speed and learning ability either due to selection on all of these traits or due to environmental effects during egg incubation. In the present study, we incubated lizard eggs (Scincidae: Bassiana duperreyi) under 'hot' and 'cold' thermal regimes and then assessed differences in hatchling body size, running speed and learning ability. We measured learning ability using a Y-maze and a food reward. We found high correlations between size, speed and learning ability, using two different metrics to quantify learning (time to solution, and directness of route), and showed that environmental effects (incubation temperature) cause these correlations. If widespread, such correlations challenge any simple interpretation of fitness advantages due to body size or speed within a population; for example, survivors may be larger and faster than nonsurvivors because of differences in learning ability, not because of their size or speed.

  4. Movement of Genetic Counselors from Clinical to Non-clinical Positions: Identifying Driving Forces.

    Science.gov (United States)

    Cohen, Stephanie A; Tucker, Megan E

    2018-03-05

    A previous study of genetic counselors (GCs) in the state of Indiana identified movement out of clinical positions within the past 2 years. The aims of this study were to determine if this trend is nationwide and identify reasons why GCs are leaving their positions and factors that might help employers attract and retain GCs. An email was sent to members of the American Board of Genetic Counseling with a link to an online confidential survey. There were 939 responses (23.5% response rate). Overall, 52% of GCs report being highly satisfied in their current position, although almost two thirds think about leaving and one third had changed jobs within the past 2 years. Of those who had changed jobs (n = 295), 74.9% had been working in a hospital/clinic setting but only 46.3% currently do, demonstrating a major shift out of the clinic (p < 0.001). The top three reasons cited for leaving a position were work environment/institutional climate, salary/benefits, and a lack of feeling valued/recognized as a professional. These results confirm that GCs are moving out of clinical positions and document elements of job satisfaction. We suggest points for employers to consider when trying to recruit or retain GCs.

  5. Correlation and regression analyses of genetic effects for different types of cells in mammals under radiation and chemical treatment

    International Nuclear Information System (INIS)

    Slutskaya, N.G.; Mosseh, I.B.

    2006-01-01

    Data about genetic mutations under radiation and chemical treatment for different types of cells have been analyzed with correlation and regression analyses. Linear correlation between different genetic effects in sex cells and somatic cells have found. The results may be extrapolated on sex cells of human and mammals. (authors)

  6. Positive Correlation Between Academic Library Services and High-Impact Practices for

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    Saori Wendy Herman, MLIS, AHIP

    2016-03-01

    Full Text Available Objective – To investigate the perceived alignment between academic library services and high-impact practices (HIPs that affect student retention. Design – Survey questionnaire. Setting – Public comprehensive universities in the United States of America with a Carnegie classification of master’s level as of January 2013. Subjects – 68 library deans or directors out of the 271 who were originally contacted. Methods – The author used Qualtrics software to create a survey based on the HIPs, tested the survey for reliability, and then distributed it to 271 universities. Library services were grouped into 1 of 3 library scales: library collection, library instruction, or library facilities. The survey consisted of a matrix of 10 Likert-style questions addressing the perceived level of alignment between the library scales and the HIPs. Each question provided an opportunity for the respondent to enter a “brief description of support practices” (p 477. Additional demographic questions addressed the years of experience of the respondent, undergraduate student enrollment of the university, and whether librarians held faculty rank. Main Results – The author measured Pearson correlation coefficients and found a positive correlation between the library scales and the HIPs. All three library scales displayed a moderately strong positive correlation between first-year seminars and experiences (HIP 1, common intellectual experiences (HIP 2, writing-intensive courses (HIP 4, undergraduate research (HIP 6, diversity and global learning (HIP 7, service learning and community-based learning (HIP 8, internships (HIP 9, and capstone courses and projects (HIP 10. The library collections scale and library facilities scale displayed a moderately strong correlation with learning communities (HIP 3 and collaborative assignments and projects (HIP 5. The library instruction scale displayed a strong positive correlation with HIP 3 and a very strong

  7. Correlation of circRNAs’ differential expression to negative- positive symptoms of patients with schizophrenia

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    Ling-ming KONG

    2017-11-01

    Full Text Available Objective To explore the correlation of circRNAs' expression level to the negative- and positive symptoms of patients with schizophrenia (SZ. Methods Gene chip screening was performed with the peripheral blood samples from each five of SZ patients and normal controls. Nine circRNAs showing differentiate expression were confirmed, and further verification was done by real-time fluorescence quantitative PCR in 102 SZ patients and 103 normal controls. All the SZ patients were assessed with Positive and Negative Symptom Scale (PANSS. Results It was revealed that the expression levels of circRNA_102101, circRNA_102315, circRNA_104597, circRNA_101835 and circRNA_101836 were significantly down-regulated (P<0.01 or P<0.05, and circRNA_103102 and circRNA_103704 were up-regulated in SZ group (P<0.01. The ΔCT value of circRNA_102101 and circRNA_103102 was positively correlated to the positive symptoms (P<0.01 or P<0.05, and the ΔCT value of circRNA_103704 also showed positive correlation with positive symptoms and general psychopathological symptoms (P<0.01 or P<0.05. The ΔCT values of circRNA_102101, circRNA_103102, circRNA_102315, circRNA_103704 and circRNA_102802 were correlated with thinking disorder (P<0.01 or P<0.05, and the ΔCT values of circRNA_102101, circRNA_103102, circRNA_104597, circRNA_103704 and circRNA_102802 were correlated with the activation (P<0.01 or P<0.05. The ΔCT values of circRNA_102101, circRNA_103102, circRNA_103704 and circRNA_102802 were positively correlated with paranoid (P<0.01 or P<0.05, and of circRNA_102101, circRNA_103102, circRNA_103704 and circRNA_102802 were markedly correlated with assault (P<0.01 or P<0.05. Therefore, circRNA_103704 was chosen into regressive equation of positive symptoms (P<0.01, and circRNA_103704 and circRNA_102315 were chosen into regressive equation of general pathological findings (P<0.01 or P<0.05. Conclusion The expression levels of circRNA_103704 and circRNA_103102 are obviously up

  8. Differential trypanocidal activity of novel macrolide antibiotics; correlation to genetic lineage.

    Science.gov (United States)

    Aquilino, Carolina; Gonzalez Rubio, Maria Luisa; Seco, Elena Maria; Escudero, Leticia; Corvo, Laura; Soto, Manuel; Fresno, Manuel; Malpartida, Francisco; Bonay, Pedro

    2012-01-01

    Here we report the systematic study of the anti-trypanocidal activity of some new products derived from S. diastatus on 14 different T. cruzi strains spanning the six genetic lineages of T. cruzi. As the traditional growth inhibition curves giving similar IC(50) showed great differences on antibiotic and lineage tested, we decided to preserve the wealth of information derived from each inhibition curve and used an algorithm related to potency of the drugs, combined in a matrix data set used to generate a cluster tree. The cluster thus generated based just on drug susceptibility data closely resembles the phylogenies of the lineages derived from genetic data and provides a novel approach to correlate genetic data with phenotypes related to pathogenesis of Chagas disease. Furthermore we provide clues on the drugs mechanism of action.

  9. Sparse Canonical Correlation Analysis via Truncated ℓ1-norm with Application to Brain Imaging Genetics.

    Science.gov (United States)

    Du, Lei; Zhang, Tuo; Liu, Kefei; Yao, Xiaohui; Yan, Jingwen; Risacher, Shannon L; Guo, Lei; Saykin, Andrew J; Shen, Li

    2016-01-01

    Discovering bi-multivariate associations between genetic markers and neuroimaging quantitative traits is a major task in brain imaging genetics. Sparse Canonical Correlation Analysis (SCCA) is a popular technique in this area for its powerful capability in identifying bi-multivariate relationships coupled with feature selection. The existing SCCA methods impose either the ℓ 1 -norm or its variants. The ℓ 0 -norm is more desirable, which however remains unexplored since the ℓ 0 -norm minimization is NP-hard. In this paper, we impose the truncated ℓ 1 -norm to improve the performance of the ℓ 1 -norm based SCCA methods. Besides, we propose two efficient optimization algorithms and prove their convergence. The experimental results, compared with two benchmark methods, show that our method identifies better and meaningful canonical loading patterns in both simulated and real imaging genetic analyse.

  10. Differential trypanocidal activity of novel macrolide antibiotics; correlation to genetic lineage.

    Directory of Open Access Journals (Sweden)

    Carolina Aquilino

    Full Text Available Here we report the systematic study of the anti-trypanocidal activity of some new products derived from S. diastatus on 14 different T. cruzi strains spanning the six genetic lineages of T. cruzi. As the traditional growth inhibition curves giving similar IC(50 showed great differences on antibiotic and lineage tested, we decided to preserve the wealth of information derived from each inhibition curve and used an algorithm related to potency of the drugs, combined in a matrix data set used to generate a cluster tree. The cluster thus generated based just on drug susceptibility data closely resembles the phylogenies of the lineages derived from genetic data and provides a novel approach to correlate genetic data with phenotypes related to pathogenesis of Chagas disease. Furthermore we provide clues on the drugs mechanism of action.

  11. Correlational study of impacted and non-functional lower third molar position with occurrence of pathologies

    Directory of Open Access Journals (Sweden)

    Igor Batista Camargo

    2016-09-01

    Full Text Available Abstract Background Lower third molar (M3 eruption is unpredictable. The purpose of this study was to correlate radiographic position of M3 on a preexistent film with the current clinical, histopathological, and radiographic findings. Methods A retrospective cohort study was performed. The sample was collected from a database of patients covered by Medical Fund of Brazilian Army. Radiographs were obtained a minimum of 5 years prior to the presurgical visit and after their clinical exam. The primary outcome variables were the teeth positions using Pell and Gregory/Winter classifications on panoramic X-rays. Those variables were analyzed at both the beginning (T0 and end of the study (T1. Clinical assessments and histopathological study of the thirds that were extracted were performed only at T1. Correlation between the teeth positions were related to the clinical, histopathological, and radiographic parameters using statistical analysis tests with significance set at p < 0.05. Results Twenty-six patients with 49 M3 were assessed over 10 months. Mean age was 14.92 years at T0 and 21.87 years at T1. The average time between T0 and T1 was 6.77 years. A significant relationship (p = 0.024 was found between the presences of root resorption on the second molar if M3 presented in an IB horizontal position at T1. There was also a significant correlation (p = 0.039 between dental crowding of the anterior lower teeth with IIIB position at T0 and if the patient finished orthodontic treatment without lingual retainers. Conclusions Lower M3 in position IIIB seen in a teenager and IB seen in an adult is more likely to have negative consequences and should be followed closely.

  12. Correlative Studies in Clinical Trials: A Position Statement From the International Thyroid Oncology Group.

    Science.gov (United States)

    Bible, Keith C; Cote, Gilbert J; Demeure, Michael J; Elisei, Rossella; Jhiang, Sissy; Ringel, Matthew D

    2015-12-01

    Patients with progressive thyroid cancer in distant metastatic sites represent a population with a need for new therapeutic options. Aspiring to improve the treatment of such patients, the objective of this position statement from the International Thyroid Oncology Group (ITOG) is to clarify the importance of incorporating high-quality correlative studies into clinical trials. ITOG was formed to develop and support high-quality multicenter and multidisciplinary clinical trials for patients with aggressive forms of thyroid cancer. The Correlative Sciences Committee of the ITOG focuses on the quality and types of correlative studies included in ITOG-associated clinical trials. This document represents expert consensus from ITOG regarding this issue based on extensive collective experience in clinical and translational trials informed by basic science. The Correlative Studies Committee identified an international writing group representative of diverse specialties, including basic sciences. Drafts were reviewed by all members of the writing group, the larger committee, and the ITOG board. After consideration of all comments by the writing group and modification of the document, the final document was then approved by the authors and the ITOG board. High-quality correlative studies, which include variety in the types of correlates, should be intrinsic to the design of thyroid cancer clinical trials to offer the best opportunity for each study to advance treatment for patients with advanced and progressive thyroid cancer.

  13. Correlation of Merkel cell polyomavirus positivity with PDGFRα mutations and survivin expression in Merkel cell carcinoma.

    Science.gov (United States)

    Batinica, M; Akgül, B; Silling, S; Mauch, C; Zigrino, P

    2015-07-01

    Merkel cell carcinoma (MCC) is a neuroendocrine cancer of the skin postulated to originate through Merkel cell polyomavirus (MCPyV) oncogenesis and/or by mutations in molecules implicated in the regulation of cell growth and survival. Despite the fact that MCPvV is detected more broadly within the population, only a part of the infected people also develop MCC. It is thus conceivable that together, virus and for example mutations, are necessary for disease development. However, apart from a correlation between MCPyV positivity or mutations and MCC development, less is known about the association of these factors with progressive disease. To analyze MCPyV positivity, load and integration in MCC as well as presence of mutations in PDGFRα and TP53 genes and correlate these with clinical features and disease progression to identify features with prognostic value for clinical progression. This is a study on a MCC population group of 64 patients. MCPyV positivity, load and integration in parallel to mutations in the PDGFRα and TP53 were analyzed on genomic DNA from MCC specimens. In addition, expression of PDGFRα, survivin and p53 proteins was analyzed by immunodetection in tissues specimens. All these parameters were analyzed as function of patient's disease progression status. 83% of MCCs were positive for the MCPyV and among these 36% also displayed virus-T integration. Viral load ranged from 0.006 to 943 viral DNA copies/β-globin gene and was highest in patients with progressive disease. We detected more than one mutation within the PDGFRα gene and identified two new SNPs in 36% of MCC patients, whereas no mutations were found in TP53 gene. Survivin was expressed in 78% of specimens. We could not correlate either mutations in PDGFR or expression of PDGFR, p53 and surviving either to the disease progression or to the MCPyV positivity. In conclusion, our data indicate that the viral positivity when associated with high viral load, correlates with poor disease

  14. MR enterography in nonresponsive adult celiac disease: Correlation with endoscopic, pathologic, serologic, and genetic features.

    Science.gov (United States)

    Radmard, Amir Reza; Hashemi Taheri, Amir Pejman; Salehian Nik, Elham; Kooraki, Soheil; Kolahdoozan, Shadi; Mirminachi, Babak; Sotoudeh, Masoud; Ekhlasi, Golnaz; Malekzadeh, Reza; Shahbazkhani, Bijan

    2017-10-01

    To assess small bowel abnormalities on magnetic resonance enterography (MRE) in adult patients with nonresponsive celiac disease (CD) and investigate their associations with endoscopic, histopathologic, serologic, and genetic features. This prospective study was carried out between September 2012 and August 2013. After approval by the Ethics Committee of our institution, informed consent was acquired from all participants. Forty consecutive patients with nonresponsive CD, aged 17-76 years, underwent MRE using a 1.5T unit. Sequences included T 2 -HASTE, True-FISP, pre- and postcontrast VIBE to assess the quantitative (number of ileal and jejunal folds) and qualitative (fold pattern abnormalities, mural thickening, increased enhancement, bowel dilatation, or intussusception) measures. Endoscopic manifestations were categorized as normal/mild vs. severe. Histopathological results were divided into mild and severe. Genotyping of HLA-DQ2 and DQ8 was performed. Serum levels of tissue-transglutaminase, endomysial, and gliadin antibodies were also determined. Logistic regression analysis and receiver operating characteristic (ROC) curve were used. Twenty-nine (72.5%) cases showed abnormal MRE. Reversed jejunoileal fold pattern had significant association with severe endoscopic (odds ratio [OR] = 8.38, 95% confidence interval [CI] 1.73-40.5) and pathologic features (OR = 7.36, 95% CI 1.33-40.54). An increased number of ileal folds/inch was significantly associated with severe MARSH score and positive HLA-DQ8. (P reversal on MRE is highly associated with endoscopic and pathologic features of refractory celiac disease (RCD). Increased ileal folds showed higher correlation with endoscopic-pathologic features, HLA-DQ8, and anti-transglutaminase level. MRE might be more sensitive for detection of increased ileal folds in CD rather than reduction of duodenal and jejunal folds due to better distension of ileal loops. 2 Technical Efficacy: Stage 3 J. Magn. Reson. Imaging 2017

  15. Heritability of high sugar consumption through drinks and the genetic correlation with substance use.

    Science.gov (United States)

    Treur, Jorien L; Boomsma, Dorret I; Ligthart, Lannie; Willemsen, Gonneke; Vink, Jacqueline M

    2016-10-01

    High sugar consumption contributes to the rising prevalence of obesity. Sugar can have rewarding effects that are similar to, but less strong than, the effects of addictive substances. People who consume large amounts of sugar also tend to use more addictive substances, but it is unclear whether this is due to shared genetic or environmental risk factors. We examined whether there are genetic influences on the consumption of sugar-containing drinks and whether genetic factors can explain the association with substance use. The frequency of consumption of sugar-containing drinks (e.g., cola, soft drinks, and energy drinks) and addictive substances (nicotine, caffeine, alcohol, cannabis, and illicit drugs) was obtained for 8586 twins who were registered at the Netherlands Twin Register (women: 68.7%; mean ± SD age: 33.5 ± 15.3 y). Participants were categorized as high or low sugar consumers (>1 compared with ≤1 SD above daily consumption in grams) and as high or low substance users (≥2 compared with <2 substances). Through bivariate genetic modeling, genetic and environmental influences on sugar consumption, substance use, and their association were estimated. Genetic factors explained 48% of the variation in high sugar consumption, whereas unique environmental factors explained 52%. For high substance use, these values were 62% and 38%, respectively. There was a moderate phenotypic association between high sugar consumption and high substance use (r = 0.2), which was explained by genetic factors (59%) and unique environmental factors (41%). The positive association between high sugar consumption and high substance use was partly due to unique environmental factors (e.g., social situations). Genetic factors were also of influence, suggesting that neuronal circuits underlying the development of addiction and obesity are related. Further research is needed to identify genes that influence sugar consumption and those that overlap with substance use. © 2016

  16. Prenatal Testing for Adult-Onset Conditions: the Position of the National Society of Genetic Counselors.

    Science.gov (United States)

    Hercher, Laura; Uhlmann, Wendy R; Hoffman, Erin P; Gustafson, Shanna; Chen, Kelly M

    2016-12-01

    Advances in genetic testing and the availability of such testing in pregnancy allows prospective parents to test their future child for adult-onset conditions. This ability raises several complex ethical issues. Prospective parents have reproductive rights to obtain information about their fetus. This information may or may not alter pregnancy management. These rights can be in conflict with the rights of the future individual, who will be denied the right to elect or decline testing. This paper highlights the complexity of these issues, details discussions that went into the National Society of Genetic Counselors (NSGC) Public Policy Task Force's development of the Prenatal testing for Adult-Onset Conditions position statement adopted in November 2014, and cites relevant literature on this topic through December 2015. Issues addressed include parental rights and autonomy, rights of the future child, the right not to know, possible adverse effects on childhood and the need for genetic counseling. This paper will serve as a reference to genetic counselors and healthcare professionals when faced with this situation in clinical practice.

  17. Transcriptome profile and unique genetic evolution of positively selected genes in yak lungs.

    Science.gov (United States)

    Lan, DaoLiang; Xiong, XianRong; Ji, WenHui; Li, Jian; Mipam, Tserang-Donko; Ai, Yi; Chai, ZhiXin

    2018-04-01

    The yak (Bos grunniens), which is a unique bovine breed that is distributed mainly in the Qinghai-Tibetan Plateau, is considered a good model for studying plateau adaptability in mammals. The lungs are important functional organs that enable animals to adapt to their external environment. However, the genetic mechanism underlying the adaptability of yak lungs to harsh plateau environments remains unknown. To explore the unique evolutionary process and genetic mechanism of yak adaptation to plateau environments, we performed transcriptome sequencing of yak and cattle (Bos taurus) lungs using RNA-Seq technology and a subsequent comparison analysis to identify the positively selected genes in the yak. After deep sequencing, a normal transcriptome profile of yak lung that containing a total of 16,815 expressed genes was obtained, and the characteristics of yak lungs transcriptome was described by functional analysis. Furthermore, Ka/Ks comparison statistics result showed that 39 strong positively selected genes are identified from yak lungs. Further GO and KEGG analysis was conducted for the functional annotation of these genes. The results of this study provide valuable data for further explorations of the unique evolutionary process of high-altitude hypoxia adaptation in yaks in the Tibetan Plateau and the genetic mechanism at the molecular level.

  18. Generating Improved Experimental Designs with Spatially and Genetically Correlated Observations Using Mixed Models

    Directory of Open Access Journals (Sweden)

    Lazarus K. Mramba

    2018-03-01

    Full Text Available The aim of this study was to generate and evaluate the efficiency of improved field experiments while simultaneously accounting for spatial correlations and different levels of genetic relatedness using a mixed models framework for orthogonal and non-orthogonal designs. Optimality criteria and a search algorithm were implemented to generate randomized complete block (RCB, incomplete block (IB, augmented block (AB and unequally replicated (UR designs. Several conditions were evaluated including size of the experiment, levels of heritability, and optimality criteria. For RCB designs with half-sib or full-sib families, the optimization procedure yielded important improvements under the presence of mild to strong spatial correlation levels and relatively low heritability values. Also, for these designs, improvements in terms of overall design efficiency (ODE% reached values of up to 8.7%, but these gains varied depending on the evaluated conditions. In general, for all evaluated designs, higher ODE% values were achieved from genetically unrelated individuals compared to experiments with half-sib and full-sib families. As expected, accuracy of prediction of genetic values improved as levels of heritability and spatial correlations increased. This study has demonstrated that important improvements in design efficiency and prediction accuracies can be achieved by optimizing how the levels of a treatment are assigned to the experimental units.

  19. Positive correlation between retinol binding protein 4 (RBP4) and triglyceride level in central obesity

    Science.gov (United States)

    Oktaria, S.; Sari, D. K.; Dalimunthe, D.; Eyanoer, P. C.

    2018-03-01

    Obesity has become an epidemic in both developed and developing countries. Central obesity considered a risk factor that is closely related to several chronic diseases. Central obesity is associated with elevated triglyceride levels and associated with RBP4 which can lead to insulin resistance. Increased level of RBP4 can cause lipid metabolism disorders and can become a marker for insulin resistance and metabolic syndrome. This study aims to find the correlation of RBP4 with triglycerides and Apo B100 in central obesity. It was a cross- sectional study on 46 subjects with central obesity, aged 20-50 years old. Blood samples were taken in cubital vein and examined for RBP4 and triglyceride levels. Data analysis was performed using Spearman correlation test. The results showed that gender frequency distribution showed little difference between men and women, i. e., men 43.5% and women 56.5%. RBP4 level was positively correlated with triglyceride (r = 0.48) and statistically significant (p = 0.001). The rbp4 level was positively correlated with triglyceride, indicating the role of RBP4 on high triglyceride level in central obesity.

  20. Robust Correlation Analyses: False Positive and Power Validation Using a New Open Source Matlab Toolbox

    Science.gov (United States)

    Pernet, Cyril R.; Wilcox, Rand; Rousselet, Guillaume A.

    2012-01-01

    Pearson’s correlation measures the strength of the association between two variables. The technique is, however, restricted to linear associations and is overly sensitive to outliers. Indeed, a single outlier can result in a highly inaccurate summary of the data. Yet, it remains the most commonly used measure of association in psychology research. Here we describe a free Matlab(R) based toolbox (http://sourceforge.net/projects/robustcorrtool/) that computes robust measures of association between two or more random variables: the percentage-bend correlation and skipped-correlations. After illustrating how to use the toolbox, we show that robust methods, where outliers are down weighted or removed and accounted for in significance testing, provide better estimates of the true association with accurate false positive control and without loss of power. The different correlation methods were tested with normal data and normal data contaminated with marginal or bivariate outliers. We report estimates of effect size, false positive rate and power, and advise on which technique to use depending on the data at hand. PMID:23335907

  1. Robust correlation analyses: false positive and power validation using a new open source matlab toolbox.

    Science.gov (United States)

    Pernet, Cyril R; Wilcox, Rand; Rousselet, Guillaume A

    2012-01-01

    Pearson's correlation measures the strength of the association between two variables. The technique is, however, restricted to linear associations and is overly sensitive to outliers. Indeed, a single outlier can result in a highly inaccurate summary of the data. Yet, it remains the most commonly used measure of association in psychology research. Here we describe a free Matlab((R)) based toolbox (http://sourceforge.net/projects/robustcorrtool/) that computes robust measures of association between two or more random variables: the percentage-bend correlation and skipped-correlations. After illustrating how to use the toolbox, we show that robust methods, where outliers are down weighted or removed and accounted for in significance testing, provide better estimates of the true association with accurate false positive control and without loss of power. The different correlation methods were tested with normal data and normal data contaminated with marginal or bivariate outliers. We report estimates of effect size, false positive rate and power, and advise on which technique to use depending on the data at hand.

  2. Tryptase-positive mast cells correlate with angiogenesis in early breast cancer patients.

    Science.gov (United States)

    Ranieri, Girolamo; Ammendola, Michele; Patruno, Rosa; Celano, Giuseppe; Zito, Francesco Alfredo; Montemurro, Severino; Rella, Addolorata; Di Lecce, Valentina; Gadaleta, Cosmo Damiano; Battista De Sarro, Giovanni; Ribatti, Domenico

    2009-07-01

    Literature data indicate that mast cells (MCs) are involved in tumor angiogenesis due to the release of several pro-angiogenetic factors among which tryptase, a serine protease stored in MCs granules, is one of the most active. However, no data are available concerning the role of MCs in angiogenesis in primary human breast cancer. In this study, we have evaluated the correlations between the number of MCs positive to tryptase (MCDPT), the area occupied by MCs positive to tryptase (MCAPT) and microvascular density (MVD) and endothelial area (EA) in a series of 88 primary T1-3, N0-2 M0 female breast cancer, by means of immunohistochemistry and image analysis methods. Data demonstrated a significant (r = from 0.78 to 0.89; p-value from 0.001 to 0.002 by Pearson's analysis respectively) correlation between MCDPT, MCAPT, MVD, EA to each other. No correlation concerning MCDPT, MCAPT, MVD, EA and the main clinicopathological features was found. Our results suggest that tryptase-positive MCs play a role in breast cancer angiogenesis. In this context several tryptase inhibitors such as gabexate mesilate and nafamostat mesilate might be evaluated in clinical trials as a new anti-angiogenetic approach.

  3. Cross-sex genetic correlation does not extend to sexual size dimorphism in spiders

    Science.gov (United States)

    Turk, Eva; Kuntner, Matjaž; Kralj-Fišer, Simona

    2018-02-01

    Males and females are often subjected to different selection pressures for homologous traits, resulting in sex-specific optima. Because organismal attributes usually share their genetic architectures, sex-specific selection may lead to intralocus sexual conflict. Evolution of sexual dimorphism may resolve this conflict, depending on the degree of cross-sex genetic correlation ( r MF) and the strength of sex-specific selection. In theory, high r MF implies that sexes largely share the genetic base for a given trait and are consequently sexually monomorphic, while low r MF indicates a sex-specific genetic base and sexual dimorphism. Here, we broadly test this hypothesis on three spider species with varying degrees of female-biased sexual size dimorphism, Larinioides sclopetarius (sexual dimorphism index, SDI = 0.85), Nuctenea umbratica (SDI = 0.60), and Zygiella x-notata (SDI = 0.46). We assess r MF via same-sex and opposite-sex heritability estimates. We find moderate body mass heritability but no obvious patterns in sex-specific heritability. Against the prediction, the degree of sexual size dimorphism is unrelated to the relative strength of same-sex versus opposite-sex heritability. Our results do not support the hypothesis that sexual size dimorphism is negatively associated with r MF. We conclude that sex-specific genetic architecture may not be necessary for the evolution of a sexually dimorphic trait.

  4. Genes: Interactions with Language on Three Levels—Inter-Individual Variation, Historical Correlations and Genetic Biasing

    Science.gov (United States)

    Dediu, Dan

    The complex inter-relationships between genetics and linguistics encompass all four scales highlighted by the contributions to this book and, together with cultural transmission, the genetics of language holds the promise to offer a unitary understanding of this fascinating phenomenon. There are inter-individual differences in genetic makeup which contribute to the obvious fact that we are not identical in the way we understand and use language and, by studying them, we will be able to both better treat and enhance ourselves. There are correlations between the genetic configuration of human groups and their languages, reflecting the historical processes shaping them, and there also seem to exist genes which can influence some characteristics of language, biasing it towards or against certain states by altering the way language is transmitted across generations. Besides the joys of pure knowledge, the understanding of these three aspects of genetics relevant to language will potentially trigger advances in medicine, linguistics, psychology or the understanding of our own past and, last but not least, a profound change in the way we regard one of the emblems of being human: our capacity for language.

  5. EPPUR SI MUOVE: POSITIONAL AND KINEMATIC CORRELATIONS OF SATELLITE PAIRS IN THE LOW Z UNIVERSE

    International Nuclear Information System (INIS)

    Ibata, Rodrigo A.; Famaey, Benoit; Martin, Nicolas; Lewis, Geraint F.; Ibata, Neil G.

    2015-01-01

    We have recently shown that pairs of satellite galaxies located diametrically opposite to each other around their host possess predominantly anti-correlated velocities. This is consistent with a scenario in which ≳50% of satellite galaxies belong to kinematically coherent rotating planar structures. Here we extend this analysis, examining satellites of giant galaxies drawn from an SDSS photometric redshift catalog. We find that there is a ∼17% overabundance (>3σ significance) of candidate satellites at positions diametrically opposite to a spectroscopically confirmed satellite. We show that ΛCDM cosmological simulations do not possess this property when contamination is included. After subtracting contamination, we find ∼2 times more satellites diametrically opposed to a spectroscopically confirmed satellite than at 90° from it, at projected distances ranging from 100 to 150 kpc from the host. This independent analysis thus strongly supports our previous results on anti-correlated velocities. We also find that those satellite pairs with anti-correlated velocities have a strong preference (∼3:1) to align with the major axis of the host whereas those with correlated velocities display the opposite behavior. We finally show that repeating a similar analysis to Ibata et al. with same-side satellites is generally hard to interpret, but is not inconsistent with our previous results when strong quality cuts are applied on the sample. This addresses all of the concerns recently raised by Cautun et al., who did not uncover any flaw in our previous analysis, but may simply have hinted at the physical extent of planar satellite structures by pointing out that the anti-correlation signal weakens at radii >150 kpc. All these unexpected positional and kinematic correlations strongly suggest that a substantial fraction of satellite galaxies are causally linked in their formation and evolution

  6. EPPUR SI MUOVE: POSITIONAL AND KINEMATIC CORRELATIONS OF SATELLITE PAIRS IN THE LOW Z UNIVERSE

    Energy Technology Data Exchange (ETDEWEB)

    Ibata, Rodrigo A.; Famaey, Benoit; Martin, Nicolas [Observatoire astronomique de Strasbourg, Université de Strasbourg, CNRS, UMR 7550, 11 rue de l’Université, F-67000 Strasbourg (France); Lewis, Geraint F. [Sydney Institute of Astronomy, School of Physics A28, University of Sydney, NSW 2006 (Australia); Ibata, Neil G., E-mail: rodrigo.ibata@astro.unistra.fr [Trinity College, Trinity Street, Cambridge, CB2 1TQ (United Kingdom)

    2015-05-20

    We have recently shown that pairs of satellite galaxies located diametrically opposite to each other around their host possess predominantly anti-correlated velocities. This is consistent with a scenario in which ≳50% of satellite galaxies belong to kinematically coherent rotating planar structures. Here we extend this analysis, examining satellites of giant galaxies drawn from an SDSS photometric redshift catalog. We find that there is a ∼17% overabundance (>3σ significance) of candidate satellites at positions diametrically opposite to a spectroscopically confirmed satellite. We show that ΛCDM cosmological simulations do not possess this property when contamination is included. After subtracting contamination, we find ∼2 times more satellites diametrically opposed to a spectroscopically confirmed satellite than at 90° from it, at projected distances ranging from 100 to 150 kpc from the host. This independent analysis thus strongly supports our previous results on anti-correlated velocities. We also find that those satellite pairs with anti-correlated velocities have a strong preference (∼3:1) to align with the major axis of the host whereas those with correlated velocities display the opposite behavior. We finally show that repeating a similar analysis to Ibata et al. with same-side satellites is generally hard to interpret, but is not inconsistent with our previous results when strong quality cuts are applied on the sample. This addresses all of the concerns recently raised by Cautun et al., who did not uncover any flaw in our previous analysis, but may simply have hinted at the physical extent of planar satellite structures by pointing out that the anti-correlation signal weakens at radii >150 kpc. All these unexpected positional and kinematic correlations strongly suggest that a substantial fraction of satellite galaxies are causally linked in their formation and evolution.

  7. Site-to-site genetic correlations and their implications on breeding zone size and optimum number of progeny test sites for Coastal Douglas-fir.

    Science.gov (United States)

    G.R. Johnson

    1997-01-01

    Type B genetic correlations were used to examine the relation among geographic differences between sites and their site-to-site genetic (Type B) correlations. Examination of six local breeding zones in Oregon indicated that breeding zones were, for the most part, not too large because few environmental variables were correlated with Type B genetic correlations. The...

  8. Algorithm of reducing the false positives in IDS based on correlation Analysis

    Science.gov (United States)

    Liu, Jianyi; Li, Sida; Zhang, Ru

    2018-03-01

    This paper proposes an algorithm of reducing the false positives in IDS based on correlation Analysis. Firstly, the algorithm analyzes the distinguishing characteristics of false positives and real alarms, and preliminary screen the false positives; then use the method of attribute similarity clustering to the alarms and further reduces the amount of alarms; finally, according to the characteristics of multi-step attack, associated it by the causal relationship. The paper also proposed a reverse causation algorithm based on the attack association method proposed by the predecessors, turning alarm information into a complete attack path. Experiments show that the algorithm simplifies the number of alarms, improve the efficiency of alarm processing, and contribute to attack purposes identification and alarm accuracy improvement.

  9. Genetic parameters for lactose and its correlation with other milk production traits and fitness traits in pasture-based production systems.

    Science.gov (United States)

    Haile-Mariam, M; Pryce, J E

    2017-05-01

    breeding values of traits such as survival, fertility, SCC, and angularity suggest that the value of lactose percentage as a predictor of fitness traits is weak. The results also suggest that including lactose yield as a trait into the breeding objective is of limited value due to the high positive genetic correlation between lactose yield and protein yield, the trait highly emphasized in Australia. However, recording lactose percentage as part of the routine milk recording system will enable the Australian dairy industry to respond quickly to any future changes and market signals. Copyright © 2017 American Dairy Science Association. Published by Elsevier Inc. All rights reserved.

  10. Cancer-associated fibroblasts are positively correlated with metastatic potential of human gastric cancers

    Directory of Open Access Journals (Sweden)

    Zhang Hao

    2010-06-01

    Full Text Available Abstract Background The prognosis of gastric cancer patients is difficult to predict because of defects in establishing the surgical-pathological features. Cancer-associated fibroblasts (CAFs have been found to play prominent role in promoting tumor growth, invasion and metastasis. Thus raises the hypothesis that the extent of CAFs prevalence may help to establish the prognosis of gastric cancer patients. Methods Immunochemistry and realtime-PCR experiments were carried out to compare the expression of proteins which are specific markers of CAFs or secreted by CAFs in the tumor and normal tissue specimens. The extent of CAFs' prevalence was graded according to immunochemical staining, and correlation was further analyzed between CAFs' prevalence and other tumor characteristics which may influence the prognosis of gastric cancer patients. Results Nearly 80 percent of normal gastric tissues were negative or weak positive for CAFs staining, while more than 60 percent of gastric cancer tissues were moderate or strong positive for CAFs staining. Realtime-PCR results also showed significant elevated expression of FAP, SDF-1 and TGF-β1 in gastric cancer tissues compared to normal gastric tissues. Further analysis showed that CAFs' prevalence was correlated with tumor size, depth of the tumor, lymph node metastasis, liver metastasis or peritoneum metastasis. Conclusions Reactive cancer associated fibroblasts (CAFs were frequently accumulated in gastric cancer tissues, and the prevalence of CAFs was correlated with tumor size, depth of the tumor and tumor metastasis, thus give some supports for establishing the prognosis of the gastric cancer patients.

  11. Genetic correlations between claw health and feet and leg conformation in Norwegian Red cows.

    Science.gov (United States)

    Ødegård, C; Svendsen, M; Heringstad, B

    2014-07-01

    The aim of this study was to estimate genetic correlations between claw disorders and feet and leg conformation traits in Norwegian Red cows. A total of 188,928 cows with claw health status recorded at claw trimming from 2004 to September 2013 and 210,789 first-lactation cows with feet and leg conformation scores from 2001 to September 2013 were included in the analyses. Traits describing claw health were corkscrew claw, infectious claw disorders (dermatitis, heel horn erosion, and interdigital phlegmon), and laminitis-related claw disorders (sole ulcer, white line disorder, and hemorrhage of sole and white line). The feet and leg conformation traits were rear leg rear view (new and old definition), rear leg side view, foot angle, and hoof quality. Feet and leg conformation traits were scored linearly from 1 to 9, with optimum scores depending on the trait. Claw disorders were defined as binary (0/1) traits for each lactation. Threshold sire models were used to model claw disorders, whereas the feet and leg conformation traits were described by linear sire models. Three multivariate analyses were performed, each including the 5 feet and leg conformation traits and 1 of the 3 claw disorders at a time. Posterior means of heritability of liability of claw disorders ranged from 0.10 to 0.20 and heritabilities of feet and leg conformation traits ranged from 0.04 to 0.11. Posterior standard deviation of heritability was ≤0.01 for all traits. Genetic correlations between claw disorders and feet and leg conformation traits were all low or moderate, except between corkscrew claw and hoof quality (-0.86), which are supposed to measure the same trait. The genetic correlations between rear leg rear view (new) and infectious claw disorders (-0.20) and laminitis-related claw disorders (0.26), and between hoof quality and laminitis-related claw disorders (-0.33) were moderate. Eight of the 15 genetic correlations between claw disorders and feet and leg conformation traits had 0

  12. Rapid evolution of the intersexual genetic correlation for fitness in Drosophila melanogaster.

    Science.gov (United States)

    Collet, Julie M; Fuentes, Sara; Hesketh, Jack; Hill, Mark S; Innocenti, Paolo; Morrow, Edward H; Fowler, Kevin; Reuter, Max

    2016-04-01

    Sexual antagonism (SA) arises when male and female phenotypes are under opposing selection, yet genetically correlated. Until resolved, antagonism limits evolution toward optimal sex-specific phenotypes. Despite its importance for sex-specific adaptation and existing theory, the dynamics of SA resolution are not well understood empirically. Here, we present data from Drosophila melanogaster, compatible with a resolution of SA. We compared two independent replicates of the "LHM " population in which SA had previously been described. Both had been maintained under identical, controlled conditions, and separated for around 200 generations. Although heritabilities of male and female fitness were similar, the intersexual genetic correlation differed significantly, being negative in one replicate (indicating SA) but close to zero in the other. Using population sequencing, we show that phenotypic differences were associated with population divergence in allele frequencies at nonrandom loci across the genome. Large frequency changes were more prevalent in the population without SA and were enriched at loci mapping to genes previously shown to have sexually antagonistic relationships between expression and fitness. Our data suggest that rapid evolution toward SA resolution has occurred in one of the populations and open avenues toward studying the genetics of SA and its resolution. © 2016 The Author(s). Evolution published by Wiley Periodicals, Inc. on behalf of The Society for the Study of Evolution.

  13. No Correlation between Distorted Body Representations Underlying Tactile Distance Perception and Position Sense

    Directory of Open Access Journals (Sweden)

    Matthew R. Longo

    2016-11-01

    Full Text Available Both tactile distance perception and position sense are believed to require that immediate afferent signals be referenced to a stored representation of body size and shape (the body model. For both of these abilities, recent studies have reported that the stored body representations involved are highly distorted, at least in the case of the hand, with the hand dorsum represented as wider and squatter than it actually is. Here, we investigated whether individual differences in the magnitude of these distortions are shared between tactile distance perception and position sense, as would be predicted by the hypothesis that a single distorted body model underlies both tasks. We used established task to measure distortions of the represented shape of the hand dorsum. Consistent with previous results, in both cases there were clear biases to overestimate distances oriented along the medio-lateral axis of the hand compared to the proximo-distal axis. Moreover, within each task there were clear split-half correlations, demonstrating that both tasks show consistent individual differences. Critically, however, there was no correlation between the magnitudes of distortion in the two tasks. This casts doubt on the proposal that a common body model underlies both tactile distance perception and position sense.

  14. Is the Positive Bias an ADHD Phenomenon? Reexamining the Positive Bias and its Correlates in a Heterogeneous Sample of Children.

    Science.gov (United States)

    Bourchtein, Elizaveta; Owens, Julie S; Dawson, Anne E; Evans, Steven W; Langberg, Joshua M; Flory, Kate; Lorch, Elizabeth P

    2017-11-25

    The goals of this study were to (a) evaluate the presence of the positive bias (PB) in elementary-school-aged children with and without ADHD when PB is defined at the individual level through latent profile analysis and (b) examine the extent to which several correlates (i.e., social functioning, aggression, depression, and anxiety) are associated with the PB. Participants were 233 youth (30% female; 8 to 10 years of age), 51% of whom met criteria for ADHD. During an individual evaluation, children and parents completed a battery of questionnaires to assess child competence, depression, anxiety, and aggression. Children also participated in a novel group session with same-sex unfamiliar peers (half of the group was comprised of children with ADHD) to engage in group problem-solving tasks and free play activities. After the group session, peers and staff completed ratings of each child's behavior (e.g., likeability, rule following). The best fitting LPA model for parent and self-ratings of competence revealed four profiles: High Competence/Self-Aware; Variable Competence/Self-Aware; Low Competence/Self-Aware; and Low Competence/PB, in which the PB was present across domains. Only 10% of youth showed a PB and youth with ADHD were no more likely to display the PB than their non-ADHD peers with similar levels of low competence. Lastly, the Low Competence/Self-Aware profile demonstrated higher levels of anxiety and depression than the Low Competence/PB profile; the profiles did not differ on aggression or peer or staff ratings of social/behavioral functioning. Implications for understanding the PB in children with and without ADHD are discussed.

  15. Correlation and heritability Analysis in the genetic improvement of camu-camu

    Directory of Open Access Journals (Sweden)

    Mario Pinedo Panduro

    2012-03-01

    Full Text Available In Peru and Brazil have been made between 2002 and 2011, correlation and heritability in search of tools for genetic improvement of camu-camu. We studied basic collections, comparative and progeny clones exist in the INIA, IIAP and INPA. The length of petiole (LP, has a half heritability (in the broad sense of h2 g = 0.42 and correlation coefficients of r2 = 0.37 with fruit yield and r2 = 0.54 with fruit weight. Basal branch number (NRB also shows levels of heritability average (in the strict sense: h2 a = 0.45 and h2 g = 0.33 in the broad sense. NRB in turn significantly correlated with fruit yield (RF (r2 = 0.43, fruit weight (FW (r2 = 0.38 and ascorbic acid (AA (r2 =- 0.30. The values of pH and soluble solids (degrees Brix of the pulp showed a high correlation with AA (r2 = 0.85 and r2 = 0.94 respectively. In light of the information correlation and heritability, we emphasize that the parameters "number of basal branches", "petiole length" and "fruit weight" and present a relatively high correlation with "yield fruit" also have a level intermediate heritability, which qualify them as important tools for the selection of superior plants camu-camu

  16. Ethics of genetic testing and research in sport: a position statement from the Australian Institute of Sport

    OpenAIRE

    Vlahovich, Nicole; Fricker, Peter A; Brown, Matthew A; Hughes, David

    2016-01-01

    As Australia's peak high-performance sport agency, the Australian Institute of Sport (AIS) has developed this position statement to address the implications of recent advances in the field of genetics and the ramifications for the health and well-being of athletes. Genetic testing has proven of value in the practice of clinical medicine. There are, however, currently no scientific grounds for the use of genetic testing for athletic performance improvement, sport selection or talent identifica...

  17. Cell size is positively correlated between different tissues in passerine birds and amphibians, but not necessarily in mammals

    OpenAIRE

    Kozłowski, J.; Czarnołęski, M.; François-Krassowska, A.; Maciak, S.; Pis, T.

    2010-01-01

    We examined cell size correlations between tissues, and cell size to body mass relationships in passerine birds, amphibians and mammals. The size correlated highly between all cell types in birds and amphibians; mammalian tissues clustered by size correlation in three tissue groups. Erythrocyte size correlated well with the volume of other cell types in birds and amphibians, but poorly in mammals. In birds, body mass correlated positively with the size of all cell types including erythrocytes...

  18. Positive correlation between serum and peritoneal fluid CA-125 levels in women with pelvic endometriosis

    Directory of Open Access Journals (Sweden)

    Vivian Ferreira do Amaral

    Full Text Available CONTEXT AND OBJECTIVE: One of the diagnostic markers of endometriosis is CA-125, and elevated levels of this are caused by high concentrations in the ectopic endometrium. The objective of this study was to correlate CA-125 levels in serum and peritoneal fluid from women with and without pelvic endometriosis. DESIGN AND SETTING: This was a prospective, cross-sectional, controlled study of consecutive pa-tients undergoing laparoscopy for infertility, pelvic pain or tubal ligation, during early follicular phase, at the university hospital of Faculdade de Medicina de Ribeirão Preto. METHODS: Fifty-two patients were divided into two groups: endometriosis group, consisting of 35 patients with biopsy-confirmed pelvic endometriosis, and control group, consisting of 17 patients without endometriosis. CA-125 levels in serum samples and peritoneal fluid were determined by chemiluminescence. RESULTS: CA-125 levels in serum and peritoneal fluid were higher in patients with advanced pelvic endometriosis (means of 39.1 ± 45.8 U/ml versus 10.5 ± 5.9 U/ml in serum, p < 0.005; 1,469.4 ± 1,350.4 U/ml versus 888.7 ± 784.3 U/ml in peritoneal fluid, p < 0.05, and showed a positive correlation between each other (correlation coefficient (r = 0.4880. Women with more advanced degrees of endometriosis showed higher CA-125 levels in both serum and peritoneal fluid (p = 0.0001. CONCLUSION: There is a positive correlation between serum and peritoneal fluid values of CA-125 in women with and without endometriosis, and their levels are higher in peritoneal fluid. Advanced endometriosis is related to higher levels in both serum and peritoneal fluid.

  19. In search of genetic constraints limiting the evolution of egg size: direct and correlated responses to artificial selection on a prenatal maternal effector.

    Science.gov (United States)

    Pick, J L; Hutter, P; Tschirren, B

    2016-06-01

    Maternal effects are an important force in nature, but the evolutionary dynamics of the traits that cause them are not well understood. Egg size is known to be a key mediator of prenatal maternal effects with an established genetic basis. In contrast to theoretical expectations for fitness-related traits, there is a large amount of additive genetic variation in egg size observed in natural populations. One possible mechanism for the maintenance of this variation is through genetic constraints caused by a shared genetic basis among traits. Here we created replicated, divergent selection lines for maternal egg investment in Japanese quail (Coturnix japonica) to quantify the role of genetic constraints in the evolution of egg size. We found that egg size responds rapidly to selection, accompanied by a strong response in all egg components. Initially, we observed a correlated response in body size, but this response declined over time, showing that egg size and body size can evolve independently. Furthermore, no correlated response in fecundity (measured as the proportion of days on which a female laid an egg) was observed. However, the response to selection was asymmetrical, with egg size plateauing after one generation of selection in the high but not the low investment lines. We attribute this pattern to the presence of genetic asymmetries, caused by directional dominance or unequal allele frequencies. Such asymmetries may contribute to the evolutionary stasis in egg size observed in natural populations, despite a positive association between egg size and fitness.

  20. Additive genetic variation in resistance of Nile tilapia (Oreochromis niloticus) to Streptococcus iniae and S. agalactiae capsular type Ib: is genetic resistance correlated?

    Science.gov (United States)

    Streptococcus (S.) iniae and S. agalactiae are both economically important Gram positive bacterial pathogens affecting the globally farmed tilapia (Oreochromis spp.). Historically control of these bacteria in tilapia culture has included biosecurity, therapeutants and vaccination strategies. Genet...

  1. Negative relationship behavior is more important than positive: Correlates of outcomes during stressful life events.

    Science.gov (United States)

    Rivers, Alannah Shelby; Sanford, Keith

    2018-04-01

    When people who are married or cohabiting face stressful life situations, their ability to cope may be associated with two separate dimensions of interpersonal behavior: positive and negative. These behaviors can be assessed with the Couple Resilience Inventory (CRI). It was expected that scales on this instrument would correlate with outcome variables regarding life well-being, stress, and relationship satisfaction. It was also expected that effects for negative behavior would be larger than effects for positive and that the effects might be curvilinear. Study 1 included 325 married or cohabiting people currently experiencing nonmedical major life stressors and Study 2 included 154 married or cohabiting people with current, serious medical conditions. All participants completed an online questionnaire including the CRI along with an alternate measure of couple behavior (to confirm scale validity), a measure of general coping style (to serve as a covariate), and measures of outcome variables regarding well-being, quality of life, perceived stress, and relationship satisfaction. The effects for negative behavior were larger than effects for positive in predicting most outcomes, and many effects were curvilinear. Notably, results remained significant after controlling for general coping style, and scales measuring positive and negative behavior demonstrated comparable levels of validity. (PsycINFO Database Record (c) 2018 APA, all rights reserved).

  2. Genetic correlations between methane production and fertility, health, and body type traits in Danish Holstein cows.

    Science.gov (United States)

    Zetouni, L; Kargo, M; Norberg, E; Lassen, J

    2018-03-01

    Our aim was to investigate the genetic correlations between CH 4 production and body conformation, fertility, and health traits in dairy cows. Data were collected from 10 commercial Holstein herds in Denmark, including 5,758 cows with records for body conformation traits, 7,390 for fertility traits, 7,439 for health traits, and 1,397 with individual CH 4 measurements. Methane production was measured during milking in automatic milking systems, using a sniffer approach. Correlations between CH 4 and several different traits were estimated. These traits were interval between calving and first insemination, interval between first and last insemination, number of inseminations, udder diseases, other diseases, height, body depth, chest width, dairy character, top line, and body condition score. Bivariate linear models were used to estimate the genetic parameters within and between CH 4 and the other traits. In general, the genetic correlations between CH 4 and the traits investigated were low. The heritability of CH 4 was 0.25, and ranged from 0.02 to 0.07 for fertility and health traits, and from 0.17 to 0.74 for body conformation traits. Further research with a larger data set should be performed to more accurately establish how CH 4 relates to fertility, health, and body conformation traits in dairy cattle. This will be useful in the design of future breeding goals that consider the production of CH 4 . The Authors. Published by the Federation of Animal Science Societies and Elsevier Inc. on behalf of the American Dairy Science Association®. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/3.0/).

  3. Cooperativity Leads to Temporally-Correlated Fluctuations in the Bacteriophage Lambda Genetic Switch

    Directory of Open Access Journals (Sweden)

    Jacob Quinn Shenker

    2015-04-01

    Full Text Available Cooperative interactions are widespread in biochemical networks, providing the nonlinear response that underlies behavior such as ultrasensitivity and robust switching. We introduce a temporal correlation function—the conditional activity—to study the behavior of these phenomena. Applying it to the bistable genetic switch in bacteriophage lambda, we find that cooperative binding between binding sites on the prophage DNA lead to non-Markovian behavior, as quantified by the conditional activity. Previously, the conditional activity has been used to predict allosteric pathways in proteins; here, we show that it identifies the rare unbinding events which underlie induction from lysogeny to lysis.

  4. Heat transfer coefficient correlation for convective boiling inside plain and micro fin tubes using genetic algorithms

    International Nuclear Information System (INIS)

    Picanco, Marco Antonio Silva; Bandarra Filho, Enio Pedone; Passos, Julio Cesar

    2006-01-01

    Two-phase flow heat transfer has been exhaustively studied over recent years. However, in this field several questions remain unanswered. Heat transfer coefficient prediction related to nucleate and convective boiling have been studied using different approaches, numerical, analytical and experimental. In this work, an experimental analysis, data representation and heat transfer coefficient prediction on two-phase heat transfer on nucleate and convective boiling are presented. An empirical correlation is obtained based on genetic algorithms search engine over a dimensional analysis of the two-phase flow heat transfer problem. (author)

  5. The CN–CH Positive Correlation in the Globular Cluster NGC 5286

    Energy Technology Data Exchange (ETDEWEB)

    Lim, Dongwook; Hong, Seungsoo; Lee, Young-Wook, E-mail: dwlim@yonsei.ac.kr, E-mail: ywlee2@yonsei.ac.kr [Center for Galaxy Evolution Research and Department of Astronomy, Yonsei University, Seoul 03722 (Korea, Republic of)

    2017-07-20

    We performed low-resolution spectroscopy of the red giant stars in the Galactic globular cluster (GC) NGC 5286, which is known to show intrinsic heavy element abundance variations. We found that the observed stars in this GC are clearly divided into three subpopulations by CN index (CN-weak, CN-intermediate, and CN-strong). The CN-strong stars are also enhanced in the calcium HK′ (7.4 σ ) and CH (5.1 σ ) indices, while the CN-intermediate stars show no significant difference in the strength of the HK′ index from the CN-weak stars. From the comparison with high-resolution spectroscopic data, we found that the CN- and HK′-strong stars are also enhanced in the abundances of Fe and s -process elements. It appears, therefore, that these stars are later-generation stars affected by some supernova enrichment in addition to the asymptotic giant branch ejecta. In addition, unlike normal GCs, sample stars in NGC 5286 show the CN–CH positive correlation, strengthening our previous suggestion that this positive correlation is only discovered in GCs with heavy element abundance variations, such as M22 and NGC 6273.

  6. Experience of Early Childhood Caries May Positively Correlate with Psychomotor Development.

    Science.gov (United States)

    Liang, Chen-Yi; Liu, Yen-Chun; Shieh, Tien-Yu; Lin, Jia-Rong; Tseng, Yi-Chun; Teng, Andy Yen-Tung

    2015-01-01

    To examine the as yet unknown relationship between dental caries and the child's psychomotor development. A cross-sectional study was designed by screening the kindergartens from urban areas of two cities in southern Taiwan. Besides the personal, demographic and dietary information, the common measures for caries (dmft) and the amended comprehensive scales (CCDI) for psychomotor development were used to assess their relationship(s). A power analysis showed that 334 subjects would be required. One-way ANOVA vs multiple linear regression analysis were used to compare the differences of variables between gender, age and dmft scales, vs the relationship among all variables tested, respectively. A total of 433 children completed the study. The results demonstrated that there was a positive relationship between higher (i.e. dmft≥4 and 5) but not lower or extremely high caries experience and aspects of psychomotor development (i.e. personal-social and expressive language) in children aged 4 to 6 years. The present results are important for paediatric dentists, as they suggest a positive correlation between caries experience (dmft 3 to 6) and psychomotor development in pre-school children and that such a correlation may occur more significantly as an attribute of the most affected teeth (incisors and molars) during the critical stage of personal-social and expressive language development (speech-communication).

  7. EMMPRIN expression positively correlates with WHO grades of astrocytomas and meningiomas.

    Science.gov (United States)

    Tsai, Wen-Chiuan; Chen, Ying; Huang, Li-Chun; Lee, Herng-Sheng; Ma, Hsin-I; Huang, Shih-Ming; Sytwu, Huey-Kang; Hueng, Dueng-Yuan

    2013-09-01

    High-grade primary brain tumors possessed poor outcome due to invasiveness. Extracellular matrix metalloproteinase inducer (EMMPRIN) stimulates peri-tumoral fibroblasts to secrete matrix metalloproteinase and promote invasiveness. This study hypothesized that high-grade brain tumors overexpress EMMPRIN. Analyzing the public delinked database from the Gene Expression Omnibus profile, the results showed that the EMMPRIN mRNA level was higher in WHO grade IV (n = 81) than in grade III (n = 19, p EMMPRIN levels positively correlated with WHO grades for astrocytomas (p = 0.008) and meningiomas (p = 0.048). EMMPRIN mRNA levels in conventional glioma cell lines (n = 36) was not less than those in glioma primary culture cells (n = 27) and glioblastoma stem-like cells (n = 12). The GBM8401, U87MG, and LN229 human glioma cell lines also overexpressed EMMPRIN. Hematoxylin and eosin, IHC, and immunofluorescence staining of xenografts confirmed that high-grade brain tumors overexpressed EMMPRIN. Lastly, Kaplan-Meier analysis revealed poorer survival in WHO grade IV (n = 56) than in grade III astrocytomas (n = 21, by log-rank test; p = 0.0001, 95 % CI: 1.842-3.053). However, in high-grade astrocytomas, there was no difference in survival between high and low EMMPRIN mRNA levels. Thus, this study identified that high-grade brain tumors overexpress EMMPRIN, which positively correlates with WHO grades in human astrocytomas and meningiomas, and suggests that EMMPRIN may be a therapeutic target of brain tumor.

  8. Makeup of the genetic correlation between milk production traits using genome-wide single nucleotide polymorphism information

    NARCIS (Netherlands)

    Binsbergen, van R.; Veerkamp, R.F.; Calus, M.P.L.

    2012-01-01

    The correlated responses between traits may differ depending on the makeup of genetic covariances, and may differ from the predictions of polygenic covariances Therefore, the objective of the present study was to investigate the makeup of the genetic covariances between the well-studied traits: milk

  9. Proteomic Analysis of Saliva in HIV-positive Heroin Addicts Reveals Proteins Correlated with Cognition

    Energy Technology Data Exchange (ETDEWEB)

    Dominy, Stephen; Brown, Joseph N.; Ryder, Mark I.; Gritsenko, Marina A.; Jacobs, Jon M.; Smith, Richard D.

    2014-04-01

    The prevalence of HIV-associated neurocognitive disorders (HAND) remains high despite effective antiretroviral therapies. Multiple etiologies have been proposed over the last few years to account for this phenomenon, including the neurotoxic effects of antiretrovirals and co-morbid substance abuse. However, no underlying molecular mechanism has been identified. Emerging evidence in several fields has linked the gut to brain diseases, but the effect of the gut on the brain during HIV infection has not been explored. Saliva is the most accessible gut biofluid, and is therefore of great scientific interest for diagnostic and prognostic purposes. This study presents a longitudinal, liquid chromatography-mass spectrometry-based quantitative proteomics study investigating saliva samples taken from 8 HIV-positive (HIV+) and 11 -negative (HIV-) heroin addicts. In the HIV+ group, 58 proteins were identified that show significant correlations with cognitive scores and that implicate disruption of protein quality control pathways by HIV. Notably, no proteins from the HIV- heroin addict cohort showed significant correlations with cognitive scores. In addition, the majority of correlated proteins have been shown to be associated with exosomes, allowing us to propose that the salivary glands and/or oral epithelium may modulate brain function during HIV infection through the release of discrete packets of proteins in the form of exosomes.

  10. Positive Correlation between Serum Osteocalcin and Testosterone in Male Hyperthyroidism Patients with High Bone Turnover.

    Science.gov (United States)

    Zhong, N; Xu, B; Cui, R; Xu, M; Su, J; Zhang, Z; Liu, Y; Li, L; Sheng, C; Sheng, H; Qu, S

    2016-07-01

    Animal studies suggested that there is an independent bone-osteocalcin-gonadal axis, except of the hypothalamic-pituitary-gonadal axis. Based on this hypothesis, the higher osteocalcin during the high bone turnover should be followed by higher testosterone formation. Yet such clinical evidence is limited. The patients with uncontrolled hyperthyroidism are proper model with high bone turnover. If this hypothesis is true, there should be high testosterone level in patients with uncontrolled hyperthyroidism. Therefore, Graves' disease patients were recruited to study the correlation between osteocalcin and testosterone. 50 male hyperthyroidism patients with Graves' disease and 50 health persons matched by age and gender were enrolled in our cross-section study. Serum markers for thyroid hormone, sex hormone and bone metabolic markers including free triiodothyronine (FT3), free thyroxine (FT4), thyroid-stimulating hormone (TSH), testosterone, luteinizing hormone (LH), follicle-stimulating hormone (FSH) and osteocalcin (OC), C-terminal telopeptide fragments of type I collagen (CTX) were examined. The demographic parameters such as duration of disease were also collected. All data was analyzed by SPSS 20.0. High testosterone and osteocalcin level was observed in the hyperthyroidism patients (T 36.35±10.72 nmol/l and OC 46.79±26.83 ng/ml). In simple Pearson correlation, testosterone was positively associated with OC (r=0.486, Phyperthyroidism patients, osteocalcin was positively correlated with serum testosterone, which indirectly supports the hypothesis that serum osteocalcin participates in the regulation of sex hormone. © Georg Thieme Verlag KG Stuttgart · New York.

  11. Estimating genetic covariance functions assuming a parametric correlation structure for environmental effects

    Directory of Open Access Journals (Sweden)

    Meyer Karin

    2001-11-01

    Full Text Available Abstract A random regression model for the analysis of "repeated" records in animal breeding is described which combines a random regression approach for additive genetic and other random effects with the assumption of a parametric correlation structure for within animal covariances. Both stationary and non-stationary correlation models involving a small number of parameters are considered. Heterogeneity in within animal variances is modelled through polynomial variance functions. Estimation of parameters describing the dispersion structure of such model by restricted maximum likelihood via an "average information" algorithm is outlined. An application to mature weight records of beef cow is given, and results are contrasted to those from analyses fitting sets of random regression coefficients for permanent environmental effects.

  12. Death attitudes and positive coping in Spanish nursing undergraduates: a cross-sectional and correlational study.

    Science.gov (United States)

    Edo-Gual, Montserrat; Monforte-Royo, Cristina; Aradilla-Herrero, Amor; Tomás-Sábado, Joaquín

    2015-09-01

    To analyse the relationship between death attitudes, emotional intelligence, resilience and self-esteem in a sample of nursing undergraduates. The death attitudes held by nursing students may influence the care they offer to end-of-life patients and their families. Emotional intelligence, resilience and self-esteem are important social and emotional competencies for coping positively with death and dying. Cross-sectional and correlational study. Participants were 760 nursing undergraduates from four nursing schools in Spain. Data were collected in 2013-2014. The students responded anonymously to a self-report questionnaire that gathered socio-demographic data and which assessed the following aspects: fear of death (Collett-Lester Fear of Death Scale), death anxiety (Death Anxiety Inventory-Revised), perceived emotional intelligence (Trait Meta-Mood Scale, with its three dimensions: attention, clarity and repair), resilience (Brief Resilient Coping Scale) and self-esteem (Rosenberg Self-Esteem Scale). In addition to descriptive statistics, analyses of variance, mean differences, correlations and regression analyses were computed. Linear regression analysis indicated that attention to feelings, resilience and self-esteem are the significant predictors of death anxiety. The results show that death anxiety and fear of death are modulated by social and emotional competencies associated with positive coping. The training offered to future nurses should include not only scientific knowledge and technical skills but also strategies for developing social and emotional competencies. In this way, they will be better equipped to cope positively and constructively with the suffering and death they encounter at work, thus helping them to offer compassionate patient-centred care and minimising the distress they experience in the process. © 2015 John Wiley & Sons Ltd.

  13. Sociotropic personality traits positively correlate with the severity of social anxiety

    Directory of Open Access Journals (Sweden)

    Nurhan Fistikci

    2015-05-01

    Full Text Available Aim. To investigate sociotropic-autonomic personality characteristics and their clinical implications in social anxiety disorder (SAD.  Methods. The study included 68 consecutive patients who were either being followed up on an outpatient basis or presented for the first time to the psychiatric clinics of Bakirkoy Research and Training Hospital for Psychiatry, Neurology and Neurosurgery or Trakya University School of Medicine between May 2012 and May 2013, and were diagnosed primarily with generalised SAD according to Diagnostic and Statistical Manual of Mental Disorders, 4th edition (DSM-IV diagnostic criteria. Beck Depression Inventory (BDI, Sociotropy-Autonomy Scale (SAS, Symptom Checklist-90-R (SCL-90-R, Liebowitz Social Anxiety Scale (LSAS and a sociodemographic data collection form designed by the authors were used as primary assessment instruments.  Results. The mean age (standard deviation (SD of the sample group was 23.73 (8.85 years; 37 (54.4% were female and 31 (45.6% were male. LSAS mean (SD total fear score was 63.51 (13.74, mean total avoidance score was 61.24 (14.26, BDI mean score was 16.99 (9.58, SAS mean sociotropy score was 71.06 (16.79, and mean autonomy score was 63.22 (16.04. A statistically significant positive correlation was found between SAS sociotropy scores and LSAS fear and avoidance total scores, BDI scores and all subscales of SCL-90-R (p0.05.  Conclusion. Sociotropic personality characteristics in patients with SAD have been found to positively correlate with depression and social anxiety levels. Addressing this finding during treatment sessions and helping the patient increase flexibility in appraisal of social life events may have a positive impact on treatment outcome.

  14. Genetic parameters for claw disorders in Dutch dairy cattle and correlations with conformation traits.

    Science.gov (United States)

    van der Waaij, E H; Holzhauer, M; Ellen, E; Kamphuis, C; de Jong, G

    2005-10-01

    Impaired claw health is one of the major problems causing production loss and reduced animal welfare in dairy cattle. In response, the Dutch Animal Health Service (GD) Ltd. initiated this study, in which claws of lactating and near-term cows and heifers in 430 herds were trimmed by hoof trimmers and the health status of the rear claws recorded. Only herds with >75% of the animals having feet trimmed were considered, resulting in records on 21,611 animals. Eight claw disorders were scored: digital dermatitis (DD), interdigital dermatitis/heel horn erosions (IDHE), sole hemorrhage (SH), chronic laminitis (CL), sole ulcer (SU), white line disease (WLD), interdigital hyperplasia (HYP), and interdigital phlegmona (IP). The prevalence varied from 0.6% (IP) to 39.9% (SH). More than 70% of the animals had at least one claw disorder. Conformation traits and locomotion were recorded once during the animal's first lactation by trained classifiers of the Royal Dutch Cattle Syndicate and completely independent of the moment of claw trimming. Heritabilities were estimated using a sire model, and ranged from <0.01 (IP) to 0.10 (DD and HYP). Genetic correlations of incidences of claw disorders with locomotion were variable, ranging from 0.13 (SH) to -0.91 (CL). Genetic correlations with the rear leg conformation traits were lower, ranging from 0.04 (ID with rear leg side view) to -0.69 (IP with rear leg rear view).

  15. Behavioral versus genetic correlates of lipoproteins and adiposity in identical twins discordant for exercise.

    Science.gov (United States)

    Williams, Paul T; Blanche, Patricia J; Krauss, Ronald M

    2005-07-19

    Lipoprotein and weight differences between vigorously active and sedentary monozygotic (MZ) twins were used to (1) estimate the effects of training while controlling for genotype and (2) estimate genetic concordance (ie, similarity) in the presence of divergent lifestyles. Thirty-five pairs of MZ twins (25 male, 10 female) were recruited nationally who were discordant for vigorous exercise (running distances differed by > or =40 km in male and > or =32 km in female twins). The active twins ran an average (mean+/-SD) of 63.0+/-20.4 km/wk, whereas the mostly sedentary twins averaged 7.0+/-13.5 km/wk. The active twins had significantly lower body mass index (difference+/-SE, -2.12+/-0.57 kg/m2, P=0.0007) and significantly higher HDL cholesterol (0.14+/-0.04 mmol/L, P=0.004), HDL2 (2.71+/-1.04 U, P=0.01), and apolipoprotein (apo) A-I (0.10+/-0.03 g/L, P=0.004). Despite the difference in lifestyle, when adjusted for sex, the correlations between the discordant MZ twin pairs were significant (PHDL cholesterol (r=0.69), apoA-I (r=0.58), and HDL2 (r=0.67). There was no significant MZ twin correlation for body mass index (r=0.17). None of the active twins having an overweight twin were themselves overweight. Behavior (vigorous exercise) may reduce genetic influences on body mass index. In contrast, genetics (or shared environment) substantially influences HDL cholesterol and HDL subclasses, even in the presence of extreme behavioral differences. There may be greater individual control over moderate degrees of obesity, whereas low HDL cholesterol may be largely predetermined and less effectively treated by vigorous exercise.

  16. Genetic Correlations Greatly Increase Mutational Robustness and Can Both Reduce and Enhance Evolvability.

    Directory of Open Access Journals (Sweden)

    Sam F Greenbury

    2016-03-01

    Full Text Available Mutational neighbourhoods in genotype-phenotype (GP maps are widely believed to be more likely to share characteristics than expected from random chance. Such genetic correlations should strongly influence evolutionary dynamics. We explore and quantify these intuitions by comparing three GP maps-a model for RNA secondary structure, the HP model for protein tertiary structure, and the Polyomino model for protein quaternary structure-to a simple random null model that maintains the number of genotypes mapping to each phenotype, but assigns genotypes randomly. The mutational neighbourhood of a genotype in these GP maps is much more likely to contain genotypes mapping to the same phenotype than in the random null model. Such neutral correlations can be quantified by the robustness to mutations, which can be many orders of magnitude larger than that of the null model, and crucially, above the critical threshold for the formation of large neutral networks of mutationally connected genotypes which enhance the capacity for the exploration of phenotypic novelty. Thus neutral correlations increase evolvability. We also study non-neutral correlations: Compared to the null model, i If a particular (non-neutral phenotype is found once in the 1-mutation neighbourhood of a genotype, then the chance of finding that phenotype multiple times in this neighbourhood is larger than expected; ii If two genotypes are connected by a single neutral mutation, then their respective non-neutral 1-mutation neighbourhoods are more likely to be similar; iii If a genotype maps to a folding or self-assembling phenotype, then its non-neutral neighbours are less likely to be a potentially deleterious non-folding or non-assembling phenotype. Non-neutral correlations of type i and ii reduce the rate at which new phenotypes can be found by neutral exploration, and so may diminish evolvability, while non-neutral correlations of type iii may instead facilitate evolutionary exploration

  17. Genetic Correlations Greatly Increase Mutational Robustness and Can Both Reduce and Enhance Evolvability

    Science.gov (United States)

    Greenbury, Sam F.; Schaper, Steffen; Ahnert, Sebastian E.; Louis, Ard A.

    2016-01-01

    Mutational neighbourhoods in genotype-phenotype (GP) maps are widely believed to be more likely to share characteristics than expected from random chance. Such genetic correlations should strongly influence evolutionary dynamics. We explore and quantify these intuitions by comparing three GP maps—a model for RNA secondary structure, the HP model for protein tertiary structure, and the Polyomino model for protein quaternary structure—to a simple random null model that maintains the number of genotypes mapping to each phenotype, but assigns genotypes randomly. The mutational neighbourhood of a genotype in these GP maps is much more likely to contain genotypes mapping to the same phenotype than in the random null model. Such neutral correlations can be quantified by the robustness to mutations, which can be many orders of magnitude larger than that of the null model, and crucially, above the critical threshold for the formation of large neutral networks of mutationally connected genotypes which enhance the capacity for the exploration of phenotypic novelty. Thus neutral correlations increase evolvability. We also study non-neutral correlations: Compared to the null model, i) If a particular (non-neutral) phenotype is found once in the 1-mutation neighbourhood of a genotype, then the chance of finding that phenotype multiple times in this neighbourhood is larger than expected; ii) If two genotypes are connected by a single neutral mutation, then their respective non-neutral 1-mutation neighbourhoods are more likely to be similar; iii) If a genotype maps to a folding or self-assembling phenotype, then its non-neutral neighbours are less likely to be a potentially deleterious non-folding or non-assembling phenotype. Non-neutral correlations of type i) and ii) reduce the rate at which new phenotypes can be found by neutral exploration, and so may diminish evolvability, while non-neutral correlations of type iii) may instead facilitate evolutionary exploration and so

  18. Habitat adaptation rather than genetic distance correlates with female preference in fire salamanders (Salamandra salamandra

    Directory of Open Access Journals (Sweden)

    Weitere Markus

    2009-06-01

    Full Text Available Abstract Background Although some mechanisms of habitat adaptation of conspecific populations have been recently elucidated, the evolution of female preference has rarely been addressed as a force driving habitat adaptation in natural settings. Habitat adaptation of fire salamanders (Salamandra salamandra, as found in Middle Europe (Germany, can be framed in an explicit phylogeographic framework that allows for the evolution of habitat adaptation between distinct populations to be traced. Typically, females of S. salamandra only deposit their larvae in small permanent streams. However, some populations of the western post-glacial recolonization lineage use small temporary ponds as larval habitats. Pond larvae display several habitat-specific adaptations that are absent in stream-adapted larvae. We conducted mate preference tests with females from three distinct German populations in order to determine the influence of habitat adaptation versus neutral genetic distance on female mate choice. Two populations that we tested belong to the western post-glacial recolonization group, but are adapted to either stream or pond habitats. The third population is adapted to streams but represents the eastern recolonization lineage. Results Despite large genetic distances with FST values around 0.5, the stream-adapted females preferred males from the same habitat type regardless of genetic distance. Conversely, pond-adapted females did not prefer males from their own population when compared to stream-adapted individuals of either lineage. Conclusion A comparative analysis of our data showed that habitat adaptation rather than neutral genetic distance correlates with female preference in these salamanders, and that habitat-dependent female preference of a specific pond-reproducing population may have been lost during adaptation to the novel environmental conditions of ponds.

  19. Genetic variability, correlation and path coefficients of yield and its components analysis in pumpkin (Cucurbita moschata Duch Ex Poir

    Directory of Open Access Journals (Sweden)

    GM Mohsin

    2017-06-01

    Full Text Available Genetic variability, correlation and path coefficient were studied for yield and yield component traits in twenty one diverse genotypes of pumpkin. Highest genotypic coefficient of variation was recorded for fruit length (cm, single fruit weight (kg, Brix (% and yield per plant (kg. Heritability estimates in broad sense were higher for almost all the characters. The characters namely, fruit length, single fruit weight, yield per plant and brix% had high genotypic coefficient of variation coupled with heritability gave high genetic advance expressed as percentage of mean ranged from 76.84 to 96.06 which indicated that these characters were less influenced by environment confirming additive gene action, and therefore, selection of these characters would be more effective for yield improvement of pumpkins. Total six traits likely fruit length, fruit diameter, flesh thickness, single fruit weight and number of fruits per plant were positively and significantly associated with yield per plant. Path coefficient analysis also revealed maximum contribution of single fruit weight (0.869 to yield and this was followed by the contribution of number of fruit per plant (0.527 at genotypic level.

  20. Information Literacy Skills Are Positively Correlated with Writing Grade and Overall Course Performance

    Directory of Open Access Journals (Sweden)

    Rachel Elizabeth Scott

    2017-06-01

    Full Text Available A Review of: Shao, X., & Purpur, G. (2016. Effects of information literacy skills on student writing and course performance. The Journal of Academic Librarianship, 42(6, 670-678. http://dx.doi.org/10.1016/j.acalib.2016.08.006 Abstract Objective – To measure the correlation of tested information literacy skills with individual writing scores and overall course grade. Design – Online, multiple-choice survey. Setting – Public research university in North Carolina, United States of America. Subjects – Freshmen students enrolled in either first-year seminar (UCO1200 or basic English writing course (ENG1000. Methods – A 25-question, forced-choice test was piloted with 30 students and measured for internal consistency using Cronbach’s Alphas. The survey instrument was slightly revised before being administered online via SelectSurvey, to 398 students in 19 different sections of either UCO1200 or ENG1000, during class sessions. The test measured students’ information literacy skills in four areas: research strategies, resource types, scholarly vs. popular, and evaluating websites. The preliminary questions asked for each student’s name, major (by category, number of library instruction sessions attended, and the names of library services utilized. The students’ information literacy scores were compared to their writing scores and overall course grades, both of which were obtained from course instructors. The information literacy scores were also analyzed for correlation to the number of library instruction sessions attended or the types of library services utilized. Main Results – Information literacy skills positively correlated with writing scores (n=344, r=-.153, p=0.004 and final course grades (n=345, r=0.112, p=0.037. Pearson’s Correlation Coefficients results demonstrated relationships between writing scores and the information literacy test section “Scholarly versus Popular Sources” (n=344, r=0.145, p=0.007, and final

  1. Observations of geographically correlated orbit errors for TOPEX/Poseidon using the global positioning system

    Science.gov (United States)

    Christensen, E. J.; Haines, B. J.; Mccoll, K. C.; Nerem, R. S.

    1994-01-01

    We have compared Global Positioning System (GPS)-based dynamic and reduced-dynamic TOPEX/Poseidon orbits over three 10-day repeat cycles of the ground-track. The results suggest that the prelaunch joint gravity model (JGM-1) introduces geographically correlated errors (GCEs) which have a strong meridional dependence. The global distribution and magnitude of these GCEs are consistent with a prelaunch covariance analysis, with estimated and predicted global rms error statistics of 2.3 and 2.4 cm rms, respectively. Repeating the analysis with the post-launch joint gravity model (JGM-2) suggests that a portion of the meridional dependence observed in JGM-1 still remains, with global rms error of 1.2 cm.

  2. Distributions of positive correlations in sectoral value added growth in the global economic network*

    Science.gov (United States)

    Maluck, Julian; Donner, Reik V.

    2017-02-01

    International trade has grown considerably during the process of globalization. Complex supply chains for the production of goods have resulted in an increasingly connected International Trade Network (ITN). Traditionally, direct trade relations between industries have been regarded as mediators of supply and demand spillovers. With increasing network connectivity the question arises if higher-order relations become more important in explaining a national sector's susceptibility to supply and demand changes of its trading partner. In this study we address this question by investigating empirically to what extent the topological properties of the ITN provide information about positive correlations in the production of two industry sectors. We observe that although direct trade relations between industries serve as important indicators for correlations in the industries' value added growth, opportunities of substitution for required production inputs as well as second-order trade relations cannot be neglected. Our results contribute to a better understanding of the relation between trade and economic productivity and can serve as a basis for the improvement of crisis spreading models that evaluate contagion threats in the case of a node's failure in the ITN.

  3. Radiation propagation in random media: From positive to negative correlations in high-frequency fluctuations

    International Nuclear Information System (INIS)

    Davis, Anthony B.; Mineev-Weinstein, Mark B.

    2011-01-01

    We survey research on radiation propagation or ballistic particle motion through media with randomly variable material density, and we investigate the topic with an emphasis on very high spatial frequencies. Our new results are based on a specific variability model consisting of a zero-mean Gaussian scaling noise riding on a constant value that is large enough with respect to the amplitude of the noise to yield overwhelmingly non-negative density. We first generalize known results about sub-exponential transmission from regular functions, which are almost everywhere continuous, to merely 'measurable' ones, which are almost everywhere discontinuous (akin to statistically stationary noises), with positively correlated fluctuations. We then use the generalized measure-theoretic formulation to address negatively correlated stochastic media without leaving the framework of conventional (continuum-limit) transport theory. We thus resolve a controversy about recent claims that only discrete-point process approaches can accommodate negative correlations, i.e., anti-clustering of the material particles. We obtain in this case the predicted super-exponential behavior, but it is rather weak. Physically, and much like the alternative discrete-point process approach, the new model applies most naturally to scales commensurate with the inter-particle distance in the material, i.e., when the notion of particle density breaks down due to Poissonian-or maybe not-so-Poissonian-number-count fluctuations occur in the sample volume. At the same time, the noisy structure must prevail up to scales commensurate with the mean-free-path to be of practical significance. Possible applications are discussed.

  4. Glenohumeral position during CT arthrography with arthroscopic correlation: optimization of diagnostic yield

    Energy Technology Data Exchange (ETDEWEB)

    Simeone, F.J.; Gill, Corey M.; Torriani, Martin; Bredella, Miriam A. [Massachusetts General Hospital and Harvard Medical School, Division of Musculoskeletal Imaging and Intervention, Boston, MA (United States); Taneja, Atul K. [Hospital Israelita Albert Einstein, Hospital do Coracao (HCor) and Teleimagem, Musculoskeletal Imaging, Sao Paulo, SP (Brazil)

    2017-06-15

    To evaluate the diagnostic yield of two acquisitions of single-contrast CT arthrography (CTA) of the shoulder in internal, neutral, or external glenohumeral rotation with arthroscopic correlation. The CT study was obtained using two acquisitions (first the humerus positioned in maximum tolerated external rotation with the arm along the body and the second with the humerus in internal rotation with the palm placed flat on the table). Two independent readers blinded to the arthroscopic results evaluated the CTA images for labral tears, glenoid bone loss/fractures, and cartilage loss. For each CTA acquisition, sensitivity and specificity for detection of the aforementioned pathology were assessed. Inter-reader agreement was quantified by weighted k statistics. Sensitivity and specificity for detecting anteroinferior or posterior labral tears was highest with neutral rotation (sensitivity 91-100%, specificity 61-100%). For glenoid fracture, sensitivity (67%) was highest with external rotation and specificity (100%) was highest with internal rotation. For cartilage loss, sensitivity (64%) and specificity (89%) was highest with external rotation and neutral rotation, respectively. Neutral rotation showed high sensitivity and specificity for glenoid fractures and cartilage loss. Inter-reader agreement ranged from fair to very good. Neutral glenohumeral position in shoulder CT arthrography was adequately sensitive and specific for the detection of intra-articular pathology, avoiding the use of more than one acquisition. (orig.)

  5. Damping at positive frequencies in the limit J⊥-->0 in the strongly correlated Hubbard model

    Science.gov (United States)

    Mohan, Minette M.

    1992-08-01

    I show damping in the two-dimensional strongly correlated Hubbard model within the retraceable-path approximation, using an expansion around dominant poles for the self-energy. The damping half-width ~J2/3z occurs only at positive frequencies ω>5/2Jz, the excitation energy of a pure ``string'' state of length one, where Jz is the Ising part of the superexchange interaction, and occurs even in the absence of spin-flip terms ~J⊥ in contrast to other theoretical treatments. The dispersion relation for both damped and undamped peaks near the upper band edge is found and is shown to have lost the simple J2/3z dependence characteristic of the peaks near the lower band edge. The position of the first three peaks near the upper band edge agrees well with numerical simulations on the t-J model. The weight of the undamped peaks near the upper band edge is ~J4/3z, contrasting with Jz for the weight near the lower band edge.

  6. Positive correlations between cerebral choline and renal dysfunction in chronic renal failure

    International Nuclear Information System (INIS)

    Sasaki, Osamu; Nakahama, Hajime; Nakamura, Satoko; Inenaga, Takashi; Kawano, Yuhei; Hattori, Noriaki; Inoue, Noriko; Sawada, Tohru; Kohno, Shigeru

    2006-01-01

    Cerebral metabolism in chronic renal failure (CRF) patients has not been fully evaluated. This study examined cerebral metabolites in CRF, using proton magnetic resonance spectroscopy (MRS). Subjects comprised 19 CRF patients and 21 healthy volunteers. Spectra were acquired from voxels of interest positioned in the parietal gray and white matter, and concentrations of the following cerebral metabolites were measured: N-acetyl group (NA), creatine + phosphocreatine (Cr), choline-containing compounds (Cho), myo-inositol and glutamate + glutamine. Among the 19 CRF patients, 9 who were started on hemodialysis (HD) underwent careful follow-up. Proton MRS was performed before and about 2 weeks after starting HD. In six patients in whom follow-up was possible, a third MRS was performed after about 18 months. The NA/Cr ratio was not significantly changed in CRF. However, elevations in the Cho/Cr ratio were found in both gray and white matter compared with controls. To the best of our knowledge, this is the first report of positive correlations between the Cho/Cr ratio in both regions and serum osmotic pressure. (orig.)

  7. Ethics of genetic testing and research in sport: a position statement from the Australian Institute of Sport

    Science.gov (United States)

    Vlahovich, Nicole; Fricker, Peter A; Brown, Matthew A; Hughes, David

    2017-01-01

    As Australia's peak high-performance sport agency, the Australian Institute of Sport (AIS) has developed this position statement to address the implications of recent advances in the field of genetics and the ramifications for the health and well-being of athletes. Genetic testing has proven of value in the practice of clinical medicine. There are, however, currently no scientific grounds for the use of genetic testing for athletic performance improvement, sport selection or talent identification. Athletes and coaches should be discouraged from using direct-to-consumer genetic testing because of its lack of validation and replicability and the lack of involvement of a medical practitioner in the process. The transfer of genetic material or genetic modification of cells for performance enhancement is gene doping and should not be used on athletes. There are, however, valid roles for genetic research and the AIS supports genetic research which aims to enhance understanding of athlete susceptibility to injury or illness. Genetic research is only to be conducted after careful consideration of a range of ethical concerns which include the provision of adequate informed consent. The AIS is committed to providing leadership in delivering an ethical framework that protects the well-being of athletes and the integrity of sport, in the rapidly changing world of genomic science. PMID:27899345

  8. Ethics of genetic testing and research in sport: a position statement from the Australian Institute of Sport.

    Science.gov (United States)

    Vlahovich, Nicole; Fricker, Peter A; Brown, Matthew A; Hughes, David

    2017-01-01

    As Australia's peak high-performance sport agency, the Australian Institute of Sport (AIS) has developed this position statement to address the implications of recent advances in the field of genetics and the ramifications for the health and well-being of athletes. Genetic testing has proven of value in the practice of clinical medicine. There are, however, currently no scientific grounds for the use of genetic testing for athletic performance improvement, sport selection or talent identification. Athletes and coaches should be discouraged from using direct-to-consumer genetic testing because of its lack of validation and replicability and the lack of involvement of a medical practitioner in the process. The transfer of genetic material or genetic modification of cells for performance enhancement is gene doping and should not be used on athletes. There are, however, valid roles for genetic research and the AIS supports genetic research which aims to enhance understanding of athlete susceptibility to injury or illness. Genetic research is only to be conducted after careful consideration of a range of ethical concerns which include the provision of adequate informed consent. The AIS is committed to providing leadership in delivering an ethical framework that protects the well-being of athletes and the integrity of sport, in the rapidly changing world of genomic science. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

  9. Correlates of HCV seropositivity among familial contacts of HCV positive patients

    Directory of Open Access Journals (Sweden)

    Matera Antonio

    2006-09-01

    Full Text Available Abstract Background Determinants of intrafamilial HCV transmission are still being debated. The aim of this study is to investigate the correlates of HCV seropositivity among familial contacts of HCV positive patients in Italy. Methods A cross-sectional study was conducted with 175 HCV positive patients (index cases, recruited from Policlinico Gemelli in Rome as well as other hospitals in Central Italy between 1995 and 2000 (40% female, mean age 57 ± 15.2 years, and 259 familial contacts. Differences in proportions of qualitative variables were tested with non-parametric tests (χ2, Yates correction, Fisher exact test, and a p value Results Seropositivity for HCV was found in 8.9% of the contacts. From the univariate analysis, risk factors significantly associated to HCV positivity in the contacts were: intravenous drug addiction (p = 0.004 and intercourse with drug addicts (p = 0.005. The only variables associated significantly and independently to HCV seropositivity in patients' contacts were intercourse with drug addicts (OR = 19.28; 95% CI: 2.01 – 184.94, the retirement status from work (OR = 3.76; 95% CI: 1.17 – 11.98, the time of the relationship (OR = 1.06; 95% CI: 1.00 – 1.11 and tattoos (OR = 7.68; 95% CI: 1.00 – 60.20. Conclusion The present study confirms that having intercourse with a drug addict is the most significant risk factor for intrafamilial HCV transmission. The association with retirement status from work could be related to both a long-term relationship with an index case and past exposure to common risk factors.

  10. Genetic and environmental correlates of morphological variation in a marine fish: the case of Baltic Sea herring ( Clupea harengus )

    DEFF Research Database (Denmark)

    Jørgensen, H.B.H.; Pertoldi, C.; Hansen, Michael Møller

    2008-01-01

    Baltic Sea herring (Clupea harengus) have been shown to exhibit morphological differences across the marked salinity and temperature gradients in the region. Here we analyse genetic (nine microsatellite loci), morpho metric (skull shape), and meristic (pectoral fin rays and number of vertebrae...... and plastic responses. Skull shape, including and excluding size variation, differed significantly among samples, both temporally and spatially. Genetic and morphometric distances were correlated, especially when size variation was excluded from the analysis. When size variation was included, skull shape...... variation was more closely correlated with environmental distances among spawning locations. Vertebrate number differed among samples and was correlated with environmental distances, whereas the number of fin rays was not. Genetic and geographic distances among samples were not correlated....

  11. Correlated genetic effects on reproduction define a domestication syndrome in a forest tree

    Science.gov (United States)

    Santos-del-Blanco, Luis; Alía, Ricardo; González-Martínez, Santiago C; Sampedro, Luis; Lario, Francisco; Climent, José

    2015-01-01

    Compared to natural selection, domestication implies a dramatic change in traits linked to fitness. A number of traits conferring fitness in the wild might be detrimental under domestication, and domesticated species typically differ from their ancestors in a set of traits known as the domestication syndrome. Specifically, trade-offs between growth and reproduction are well established across the tree of life. According to allocation theory, selection for growth rate is expected to indirectly alter life-history reproductive traits, diverting resources from reproduction to growth. Here we tested this hypothesis by examining the genetic change and correlated responses of reproductive traits as a result of selection for timber yield in the tree Pinus pinaster. Phenotypic selection was carried out in a natural population, and progenies from selected trees were compared with those of control trees in a common garden experiment. According to expectations, we detected a genetic change in important life-history traits due to selection. Specifically, threshold sizes for reproduction were much higher and reproductive investment relative to size significantly lower in the selected progenies just after a single artificial selection event. Our study helps to define the domestication syndrome in exploited forest trees and shows that changes affecting developmental pathways are relevant in domestication processes of long-lived plants. PMID:25926884

  12. Correlation of regional cerebral blood flow and positive/negative symptoms in schizophrenic patients: covariate SPM analysis

    Energy Technology Data Exchange (ETDEWEB)

    Lim, Ki Chun; Kim, J. S.; Kim, C. Y.; Lee, H. K.; Moon, D. H. [Ulsan University, Seoul (Korea, Republic of)

    2002-07-01

    We investigated the relations between rCBF and psychopathology in schizophrenic patients using a SPM99. Thirty-two patients(M/F:22/10, 25{+-}5,6yr) with active symptoms of schizophrenia and 15 age matched normal controls underwent Tc-99m ECD brain perfusion SPECT. Psychopathology of all patients were also assessed according to PANSS (positive and negative syndrome scale in schizophrenia). By covariate SPM analysis, specific areas where rCBF correlated with sum scores of positive/negative synptoms were identified. Regional CBF of schizophrenics was different in several cortical regions from normal controls. Sum scores of positive symptoms were positively correlated with rCBF of both rectal and inferior frontal gyri and right transverse temporal gyrus, and negatively correlated with rCBF of left lingual and right middle temporal gyri (p<0.01). Sum scores of negative symptoms were positively correlated with rCBF of both middle temporal gyri and negatively correlated with rCBF of right superior parietal lobule and medial frontal gyrus (p<0.01). Positive and negative symptoms of schizophrenia were correlated with rCBF change in different regions of cerebral association cortex.

  13. Correlation of regional cerebral blood flow and positive/negative symptoms in schizophrenic patients: covariate SPM analysis

    International Nuclear Information System (INIS)

    Lim, Ki Chun; Kim, J. S.; Kim, C. Y.; Lee, H. K.; Moon, D. H.

    2002-01-01

    We investigated the relations between rCBF and psychopathology in schizophrenic patients using a SPM99. Thirty-two patients(M/F:22/10, 25±5,6yr) with active symptoms of schizophrenia and 15 age matched normal controls underwent Tc-99m ECD brain perfusion SPECT. Psychopathology of all patients were also assessed according to PANSS (positive and negative syndrome scale in schizophrenia). By covariate SPM analysis, specific areas where rCBF correlated with sum scores of positive/negative synptoms were identified. Regional CBF of schizophrenics was different in several cortical regions from normal controls. Sum scores of positive symptoms were positively correlated with rCBF of both rectal and inferior frontal gyri and right transverse temporal gyrus, and negatively correlated with rCBF of left lingual and right middle temporal gyri (p<0.01). Sum scores of negative symptoms were positively correlated with rCBF of both middle temporal gyri and negatively correlated with rCBF of right superior parietal lobule and medial frontal gyrus (p<0.01). Positive and negative symptoms of schizophrenia were correlated with rCBF change in different regions of cerebral association cortex

  14. H. Pylori Positivity and Various Pathological, Endoscopic and Clinical Features Correlated with Each Other

    International Nuclear Information System (INIS)

    Coskun, A.; Yukselen, V.; Yasa, M. H.; Karaoglu, A. O.; Meteoglu, I.; Ergin, F.; Kadikoylu, G.

    2015-01-01

    Objective: To investigate the relationship between dyspepsia symptom scores and endoscopic appearances, and histopathological findings and helicobacter pylori positivity in patients having dyspepsia symptom. Methods: The study was conducted at the gastroenterology outpatient clinic of Adnan Menderes University, School of Medicine, Aydin, Turkey from April 2012 to July 2012 and comprised patients between 18-65 years of age who were admitted with dyspepsia. Glasgow dyspepsia severity scoring was done with questions posed orally to the patients. In histopathological evaluation of biopsy specimens according to Sydney criteria, chronic inflammation, activity, atrophy, intestinal metaplasia and helicobacter pylori parameters were used. Total number of eosinophils and number of mast cells were recorded. Results: Of the 60 patients with dyspepsia, 38(63.3 percent) were female and 22(36.7 percent) were male. The degree of activation and severity of inflammation increased significantly with increasing helicobacter pylori positivity(r=0.459'p<0.0001; r=0.475'p<0.0001). A significant relationship was found between inflammation, activation and the number of mast cells (p<0.05).There was no relationship between helicobacter pylori intensity and the eosinophil count (r=0.171; p=0.093). There was also a statistically significant correlation between severity of inflammation and activation and the number of eosinophils (r=0.313;p=0.002;r=0.245;p=0.016). Conclusion: Mast cell density was seen to have a role in the inflammatory processes of helicobacter pylori infection. (author)

  15. Functional correlates of positional and gender-specific renal asymmetry in Drosophila.

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    Venkateswara R Chintapalli

    Full Text Available In humans and other animals, the internal organs are positioned asymmetrically in the body cavity, and disruption of this body plan can be fatal in humans. The mechanisms by which internal asymmetry are established are presently the subject of intense study; however, the functional significance of internal asymmetry (outside the brain is largely unexplored. Is internal asymmetry functionally significant, or merely an expedient way of packing organs into a cavity?Like humans, Drosophila shows internal asymmetry, with the gut thrown into stereotyped folds. There is also renal asymmetry, with the rightmost pair of renal (Malpighian tubules always ramifying anteriorly, and the leftmost pair always sitting posteriorly in the body cavity. Accordingly, transcriptomes of anterior-directed (right-side and posterior-directed (left-side Malpighian (renal tubules were compared in both adult male and female Drosophila. Although genes encoding the basic functions of the tubules (transport, signalling were uniformly expressed, some functions (like innate immunity showed positional or gender differences in emphasis; others, like calcium handling or the generation of potentially toxic ammonia, were reserved for just the right-side or left-side tubules, respectively. These findings correlated with the distinct locations of each tubule pair within the body cavity. Well known developmental genes (like dorsocross, dachshund and doublesex showed continuing, patterned expression in adult tubules, implying that somatic tissues maintain both left-right and gender identities throughout life. Gender asymmetry was also noted, both in defence and in male-specific expression of receptors for neuropeptide F and sex-peptide: NPF elevated calcium only in male tubules.Accordingly, the physical asymmetry of the tubules in the body cavity is directly adaptive. Now that the detailed machinery underlying internal asymmetry is starting to be delineated, our work invites the

  16. The Impact of Childhood Bullying among HIV-Positive Men: Psychosocial Correlates and Risk Factors

    Science.gov (United States)

    Kamen, Charles; Bergstrom, Jessica; Vorasarun, Chaniga; Mardini, Mona; Patrick, Rudy; Lee, Susanne; Lazar, Rachael; Koopman, Cheryl; Gore-Felton, Cheryl

    2012-01-01

    Objectives While some studies have examined the deleterious effects of childhood bullying on adults, no studies to date have focused on the effects of bullying on Persons Living with HIV (PLH), a particularly at-risk population. PLH experience higher rates of childhood and adulthood physical and sexual abuse than the population at large, and experience of childhood abuse appears to be predictive of sexual and other risk behaviors in this population. Thus it remains critical to examine rates of childhood bullying and correlates of bullying in adult PLH. Methods A sample of 171 HIV-positive men over 18 years of age were recruited from the San Francisco Bay Area. All participants reported experiencing symptoms of traumatic stress. The participants were recruited as part of a larger study assessing a group intervention for individuals with HIV and symptoms of trauma. Self-report questionnaires were administered to assess participants’ exposure to bullying in childhood and trauma symptoms in adulthood. Results Bullying was commonly reported by men in the current sample, with 91% of the sample endorsing having experienced some level of bullying before age 18. Having been bullied in childhood was significantly (p bullying in childhood predicted additional, unique variance in trauma symptoms in adulthood above and beyond the effect of exposure to other forms of trauma, resulting in a better-fitting model. Conclusions The current study highlights the association between rate of childhood bullying and symptoms of trauma in adulthood, accounting for the effect of exposure to other forms of trauma. Given the impact of trauma symptoms on disease progression in PLH, exposure to bullying must be considered in any intervention aiming to reduce trauma symptoms or improve mental or physical health among HIV-positive populations. PMID:23294606

  17. A Continuous Correlated Beta Process Model for Genetic Ancestry in Admixed Populations.

    Science.gov (United States)

    Gompert, Zachariah

    2016-01-01

    Admixture and recombination create populations and genomes with genetic ancestry from multiple source populations. Analyses of genetic ancestry in admixed populations are relevant for trait and disease mapping, studies of speciation, and conservation efforts. Consequently, many methods have been developed to infer genome-average ancestry and to deconvolute ancestry into continuous local ancestry blocks or tracts within individuals. Current methods for local ancestry inference perform well when admixture occurred recently or hybridization is ongoing, or when admixture occurred in the distant past such that local ancestry blocks have fixed in the admixed population. However, methods to infer local ancestry frequencies in isolated admixed populations still segregating for ancestry do not exist. In the current paper, I develop and test a continuous correlated beta process model to fill this analytical gap. The method explicitly models autocorrelations in ancestry frequencies at the population-level and uses discriminant analysis of SNP windows to take advantage of ancestry blocks within individuals. Analyses of simulated data sets show that the method is generally accurate such that ancestry frequency estimates exhibited low root-mean-square error and were highly correlated with the true values, particularly when large (±10 or ±20) SNP windows were used. Along these lines, the proposed method outperformed post hoc inference of ancestry frequencies from a traditional hidden Markov model (i.e., the linkage model in structure), particularly when admixture occurred more distantly in the past with little on-going gene flow or was followed by natural selection. The reliability and utility of the method was further assessed by analyzing genetic ancestry in an admixed human population (Uyghur) and three populations from a hybrid zone between Mus domesticus and M. musculus. Considerable variation in ancestry frequencies was detected within and among chromosomes in the Uyghur

  18. A Continuous Correlated Beta Process Model for Genetic Ancestry in Admixed Populations.

    Directory of Open Access Journals (Sweden)

    Zachariah Gompert

    Full Text Available Admixture and recombination create populations and genomes with genetic ancestry from multiple source populations. Analyses of genetic ancestry in admixed populations are relevant for trait and disease mapping, studies of speciation, and conservation efforts. Consequently, many methods have been developed to infer genome-average ancestry and to deconvolute ancestry into continuous local ancestry blocks or tracts within individuals. Current methods for local ancestry inference perform well when admixture occurred recently or hybridization is ongoing, or when admixture occurred in the distant past such that local ancestry blocks have fixed in the admixed population. However, methods to infer local ancestry frequencies in isolated admixed populations still segregating for ancestry do not exist. In the current paper, I develop and test a continuous correlated beta process model to fill this analytical gap. The method explicitly models autocorrelations in ancestry frequencies at the population-level and uses discriminant analysis of SNP windows to take advantage of ancestry blocks within individuals. Analyses of simulated data sets show that the method is generally accurate such that ancestry frequency estimates exhibited low root-mean-square error and were highly correlated with the true values, particularly when large (±10 or ±20 SNP windows were used. Along these lines, the proposed method outperformed post hoc inference of ancestry frequencies from a traditional hidden Markov model (i.e., the linkage model in structure, particularly when admixture occurred more distantly in the past with little on-going gene flow or was followed by natural selection. The reliability and utility of the method was further assessed by analyzing genetic ancestry in an admixed human population (Uyghur and three populations from a hybrid zone between Mus domesticus and M. musculus. Considerable variation in ancestry frequencies was detected within and among

  19. Soluble sortilin is present in excess and positively correlates with progranulin in CSF of aging individuals.

    Science.gov (United States)

    Molgaard, Simon; Demontis, Ditte; Nicholson, Alexandra M; Finch, Nicole A; Petersen, Ronald C; Petersen, Claus M; Rademakers, Rosa; Nykjaer, Anders; Glerup, Simon

    2016-11-01

    Mutations in progranulin are a major cause of frontotemporal lobe degeneration (FTLD). Hence, plasma progranulin is an attractive biomarker in FTLD but poorly reflects levels in cerebrospinal fluid (CSF), suggesting tissue-specific regulation of progranulin levels. Sortilin was recently identified as a progranulin scavenger receptor that destines it for lysosomal degradation. Proteolysis or alternative splicing generates soluble sortilin variants that retain progranulin binding and potentially functions as a decoy receptor. In the present study, we analyzed soluble sortilin and progranulin in plasma and CSF in 341 aging individuals. We found that soluble sortilin exists in CSF in ten-fold molar excess compared to progranulin and observed a highly significant positive correlation between soluble sortilin and progranulin levels in CSF but not in plasma. However, carriers of the minor allele of SNP rs646776 in SORT1 encoding sortilin displayed significantly increased soluble sortilin and reduced progranulin specifically in plasma but not in CSF. Taken together, our findings suggest that soluble sortilin may affect progranulin levels in both a tissue-specific and genotype-dependent manner. Copyright © 2016 Elsevier Inc. All rights reserved.

  20. Correlation to predict heat transfer characteristics of a radially rotating heat pipe at vertical position

    Energy Technology Data Exchange (ETDEWEB)

    Waowaew, N.; Terdtoon, P.; Kamonpet, P.; Klongpanich, W. [Chiang Mai University (Thailand). Dept. of Mechanical Engineering; Maezawa, S. [Seikei University (Japan). Dept. of Mechanical Engineering

    2003-06-01

    The heat transfer characteristics of a radially rotating heat pipe (RRHP) depend on a number of parameters. This paper is a study of the effects of these parameters. They are the inner diameter of the tube, aspect ratio, rotational acceleration, working fluid and the dimensionless parameters of heat transfer. RRHPs, made of copper tubes with inner diameters of 11, 26, and 50.4 mm, were used in the experiments. The aspect ratios were 5, 10, 20 and 40 respectively. The selected working fluids were water, ethanol and R123 (CHCI{sub 2}CF{sub 3}) with a filling ratio of 60% of evaporator volume. The experiments were conducted at inclination angles of 0-90{sup o} from horizontal axis and the rotational accelerations were lower, higher and equal to gravitational acceleration. The working temperature was 90{sup o}C. The evaporator section was heated by electric power while heat in the condenser section was removed naturally by air. The evaporator and adiabatic section of the RRHP were well insulated with ceramic fibers. The experimental results showed that the heat flux decreases with an increasing inner diameter, and decreases with an increasing aspect ratio. The heat flux increases with an increasing rotational acceleration and decreases with an increasing liquid density of the working fluid. A correlation to predict the heat transfer rate at vertical position can be established. Further research will investigate a visual study of internal flow pattern and the formulation of a mathematical model. (author)

  1. Positive effects of neurofeedback on autism symptoms correlate with brain activation during imitation and observation.

    Science.gov (United States)

    Datko, Michael; Pineda, Jaime A; Müller, Ralph-Axel

    2018-03-01

    Autism has been characterized by atypical task-related brain activation and functional connections, coinciding with deficits in sociocommunicative abilities. However, evidence of the brain's experience-dependent plasticity suggests that abnormal activity patterns may be reversed with treatment. In particular, neurofeedback training (NFT), an intervention based on operant conditioning resulting in self-regulation of brain electrical oscillations, has shown increasing promise in addressing abnormalities in brain function and behavior. We examined the effects of ≥ 20 h of sensorimotor mu-rhythm-based NFT in children with high-functioning autism spectrum disorders (ASD) and a matched control group of typically developing children (ages 8-17). During a functional magnetic resonance imaging imitation and observation task, the ASD group showed increased activation in regions of the human mirror neuron system following the NFT, as part of a significant interaction between group (ASD vs. controls) and training (pre- vs. post-training). These changes were positively correlated with behavioral improvements in the ASD participants, indicating that mu-rhythm NFT may be beneficial to individuals with ASD. © 2017 Federation of European Neuroscience Societies and John Wiley & Sons Ltd.

  2. Genetic correlation between rheumatoid arthritis and periodontal disease: the role of sex and IL-10.

    Science.gov (United States)

    Azzi, L; Rania, S; Spadari, F; Vinci, R; Manfredini, M; Croveri, F; Boggio, A; Tettamanti, L; Tagliabue, A; Silvestre-Rangil, J; Bellintani, C

    2017-01-01

    The chronic stimulation of the immune system due to the presence of bacterial antigens within periodontal tissues has been associated with several autoimmune diseases, like diabetes mellitus, infective endocarditis or cardiovascular atherosclerosis. The current study aims at evaluating the correlation between Rheumatoid Arthritis (RA) and Periodontal Disease (PD) with special attention to genetic polymorphisms in cytokine expression. A total number of 34 patients affected by RA were recruited. Each of them underwent haematochemical analysis and data were collected for Rheumatoid Factor (RF), Anti-Citrullinated Protein’s Antibody (CCP) and HLA-BDR1. DAS-28 questionnaire for disease activity was fulfilled by the rheumatologist, while a periodontal examination was carried out by the dental clinician and crevicular fluid samples were collected to evaluate the IL-6, IL-10 and VDR polymorphysms. A connection between CCP and IL-10 polymorphisms was found, with IL-10 expressing protecting tendency against periodontal disease when CCP are found in the bloodstream (p=0.0017). Finally, males mainly expressed IL-10 predisposing genes (p=0.046), while females showed a greater tendency to express RF (p=0.014) and CCP (p=0.050). This paper corroborates the idea of a correlation between sex, IL-10 polymorphisms and RA, which should be studied in depth, since recent papers have shown that IL-10 injected into joints seems to decrease inflammation.

  3. Genetic response to metabolic fluctuations: correlation between central carbon metabolism and DNA replication in Escherichia coli

    Directory of Open Access Journals (Sweden)

    Szalewska-Pałasz Agnieszka

    2011-03-01

    Full Text Available Abstract Background Until now, the direct link between central carbon metabolism and DNA replication has been demonstrated only in Bacillus. subtilis. Therefore, we asked if this is a specific phenomenon, characteristic for this bacterium and perhaps for its close relatives, or a more general biological rule. Results We found that temperature-sensitivity of mutants in particular genes coding for replication proteins could be suppressed by deletions of certain genes coding for enzymes of the central carbon metabolism. Namely, the effects of dnaA46(ts mutation could be suppressed by dysfunction of pta or ackA, effects of dnaB(ts by dysfunction of pgi or pta, effects of dnaE486(ts by dysfunction of tktB, effects of dnaG(ts by dysfunction of gpmA, pta or ackA, and effects of dnaN159(ts by dysfunction of pta or ackA. The observed suppression effects were not caused by a decrease in bacterial growth rate. Conclusions The genetic correlation exists between central carbon metabolism and DNA replication in the model Gram-negative bacterium, E. coli. This link exists at the steps of initiation and elongation of DNA replication, indicating the important global correlation between metabolic status of the cell and the events leading to cell reproduction.

  4. Psychopathic Personality Traits and Environmental Contexts: Differential Correlates, Gender Differences, and Genetic Mediation

    Science.gov (United States)

    Hicks, Brian M.; Carlson, Marie D.; Blonigen, Daniel M.; Patrick, Christopher J.; Iacono, William G.; MGue, Matt

    2011-01-01

    Theorists have speculated that primary psychopathy (or Factor 1 affective-interpersonal features) is prominently heritable whereas secondary psychopathy (or Factor 2 social deviance) is more environmentally determined. We tested this differential heritability hypothesis using a large adolescent twin sample. Trait-based proxies of primary and secondary psychopathic tendencies were assessed using Multidimensional Personality Questionnaire (MPQ; Tellegen & Waller, 2008) estimates of Fearless Dominance and Impulsive Antisociality, respectively (Benning et al., 2005). The environmental contexts of family, school, peers, and stressful life events were assessed using multiple raters and methods. Consistent with prior research, MPQ Impulsive Antisociality was robustly associated with each environmental risk factor, and these associations were significantly greater than those for MPQ Fearless Dominance. However, MPQ Fearless Dominance and Impulsive Antisociality exhibited similar heritability, and genetic effects mediated the associations between MPQ Impulsive Antisociality and the environmental measures. Results were largely consistent across male and female twins. We conclude that gene-environment correlations rather than main effects of genes and environments account for the differential environmental correlates of primary and secondary psychopathy. PMID:22452762

  5. Antimicrobial-Resistance Genetic Markers in Potentially Pathogenic Gram Positive Cocci Isolated from Brazilian Soft Cheese.

    Science.gov (United States)

    Resende, Juliana Alves; Fontes, Cláudia Oliveira; Ferreira-Machado, Alessandra Barbosa; Nascimento, Thiago César; Silva, Vânia Lúcia; Diniz, Cláudio Galuppo

    2018-02-01

    Although most Brazilian dairy products meet high technological standards, there are quality issues regarding milk production, which may reduce the final product quality. Several microbial species may contaminate milk during manufacture and handling. If antimicrobial usage remains uncontrolled in dairy cattle, the horizontal transfer of antimicrobial resistance genes in foodstuffs may be of particular concern for both food producers and dairy industry. This study focused on the evaluation of putative Gram positive cocci in Minas cheese and of antimicrobial and biocide resistance genes among the isolated bacteria. Representative samples of 7 different industrially trademarked Minas cheeses (n = 35) were processed for selective culture and isolation of Gram positive cocci. All isolated bacteria were identified by DNA sequencing of the 16S rRNA gene. Antimicrobial resistance genes were screened by PCR. Overall, 208 strains were isolated and identified as follows: Enterococcus faecalis (47.6%), Macrococcus caseolyticus (18.3%), Enterococcus faecium (11.5%), Enterococcus caseliflavus (7.7%), Staphylococcus haemolyticus (7.2%), Staphylococcus aureus (4.3%), Staphylococcus epidermidis (2.9%), and Enterococcus hirae (0.5%). The genetic markers mecA (78.0%) and smr (71.4%) were the most prevalent, but others were also detected, such as blaZ (65.2%), msrA (60.9%), msrB (46.6%), linA (54.7%), and aacA-aphD (47.6%). The occurrence of opportunist pathogenic bacteria harboring antimicrobial resistance markers in the cheese samples are of special concern, since these bacteria are not considered harmful contaminating agents according to the Brazilian sanitary regulations. However, they are potentially pathogenic bacteria and the cheese may be considered a reservoir for antimicrobial resistance genes available for horizontal transfer through the food chain, manufacturing personnel and consumers. © 2018 Institute of Food Technologists®.

  6. Genetic characterization and phylogenetic position of Echinococcus felidis (Cestoda: Taeniidae) from the African lion.

    Science.gov (United States)

    Hüttner, Marion; Nakao, Minoru; Wassermann, Torsten; Siefert, Ludwig; Boomker, Joop D F; Dinkel, Anke; Sako, Yasuhito; Mackenstedt, Ute; Romig, Thomas; Ito, Akira

    2008-06-01

    Echinococcus felidis had been described in 1937 from African lions, but was later included in Echinococcus granulosus as a subspecies or a strain. In the absence of any genetic characterization, most previous records of this taxon from a variety of large African mammals remained unconfirmed due to the lack of diagnostic criteria and the possible confusion with the sympatric E. granulosus sensu stricto, Echinococcus ortleppi and Echinococcus canadensis. In this study, we obtained taeniid eggs from lion feces in Uganda and amplified DNA from individual eggs. Mitochondrial and nuclear DNA sequences showed similarities with those of other Echinococcus spp., but high values of percentage divergence of mitochondrial genes indicated the presence of a distinct species. In a second step, we compared this material with the preserved specimens of adult E. granulosus felidis, which had been identified morphologically approximately 40 years ago in South Africa. All DNA fragments (<200 bp) that could be amplified from the adults showed 100% similarity with the Ugandan material. In the phylogenetic tree of Echinococcus which was constructed from the mitochondrial genes, E. felidis is positioned as a sister taxon of E. granulosus sensu stricto. The data obtained will facilitate the development of diagnostic tools necessary to study the epidemiology of this enigmatic parasite.

  7. Augmenting the Genetic Toolbox for Sulfolobus islandicus with a Stringent Positive Selectable Marker for Agmatine Prototrophy

    Science.gov (United States)

    Cooper, Tara E.; Krause, David J.

    2013-01-01

    Sulfolobus species have become the model organisms for studying the unique biology of the crenarchaeal division of the archaeal domain. In particular, Sulfolobus islandicus provides a powerful opportunity to explore natural variation via experimental functional genomics. To support these efforts, we further expanded genetic tools for S. islandicus by developing a stringent positive selection for agmatine prototrophs in strains in which the argD gene, encoding arginine decarboxylase, has been deleted. Strains with deletions in argD were shown to be auxotrophic for agmatine even in nutrient-rich medium, but growth could be restored by either supplementation of exogenous agmatine or reintroduction of a functional copy of the argD gene from S. solfataricus P2 into the ΔargD host. Using this stringent selection, a robust targeted gene knockout system was established via an improved next generation of the MID (marker insertion and unmarked target gene deletion) method. Application of this novel system was validated by targeted knockout of the upsEF genes involved in UV-inducible cell aggregation formation. PMID:23835176

  8. Is there a positive relationship between naturalness and genetic diversity in forest tree communities?

    OpenAIRE

    Wehenkel, C.; Corral-Rivas, J. J.; Castellanos-Bocaz, H. A.; Pinedo-Alvarez, A.

    2009-01-01

    The concepts of genetic diversity and naturalness are well known as measures of conservation values and as descriptors of state or condition. A lack of research evaluating the relationship between genetic diversity and naturalness in biological communities, along with the possible implications in terms of evolutionary aspects and conservation management, make this subject particularly important as regards forest tree communities.We therefore examined the following hypothesis: the genetic dive...

  9. Exercise-induced prostacyclin release positively correlates with VO(2max) in young healthy men.

    Science.gov (United States)

    Zoladz, J A; Majerczak, J; Duda, K; Chłopicki, S

    2009-01-01

    In this study we have evaluated the effect of maximal incremental cycling exercise (IE) on the systemic release of prostacyclin (PGI(2)), assessed as plasma 6-keto-PGF(1alpha) concentration in young healthy men. Eleven physically active - untrained men (mean +/- S.D.) aged 22.7 +/- 2.1 years; body mass 76.3 +/- 9.1 kg; BMI 23.30 +/- 2.18 kg . m(-2); maximal oxygen uptake (VO(2max)) 46.5 +/- 3.9 ml . kg(-1) . min(-1), performed an IE test until exhaustion. Plasma concentrations of 6-keto-PGF(1alpha), lactate, and cytokines were measured in venous blood samples taken prior to the exercise and at the exhaustion. The net exercise-induced increase in 6-keto-PGF(1alpha) concentration, expressed as the difference between the end-exercise minus pre-exercise concentration positively correlated with VO(2max) (r=0.78, p=0.004) as well as with the net VO(2) increase at exhaustion (r=0.81, p=0.003), but not with other respiratory, cardiac, metabolic or inflammatory parameters of the exercise (minute ventilation, heart rate, plasma lactate, IL-6 or TNF-alpha concentrations). The exercise-induced increase in 6-keto-PGF(1alpha) concentration?? was significantly higher (p=0.008) in a group of subjects (n=5) with the highest VO(2max) when compared to the group of subjects with the lowest VO(2max), in which no increase in 6-keto-PGF(1alpha) concentration was found. In conclusion, we demonstrated, to our knowledge for the first time, that exercise-induced release of PGI(2) in young healthy men correlates with VO(2max), suggesting that vascular capacity to release PGI(2) in response to physical exercise represents an important factor characterizing exercise tolerance. Moreover, we postulate that the impairment of exercise-induced release of PGI(2) leads to the increased cardiovascular hazard of vigorous exercise.

  10. PCR-free detection of genetically modified organisms using magnetic capture technology and fluorescence cross-correlation spectroscopy.

    Directory of Open Access Journals (Sweden)

    Xiaoming Zhou

    2009-11-01

    Full Text Available The safety of genetically modified organisms (GMOs has attracted much attention recently. Polymerase chain reaction (PCR amplification is a common method used in the identification of GMOs. However, a major disadvantage of PCR is the potential amplification of non-target DNA, causing false-positive identification. Thus, there remains a need for a simple, reliable and ultrasensitive method to identify and quantify GMO in crops. This report is to introduce a magnetic bead-based PCR-free method for rapid detection of GMOs using dual-color fluorescence cross-correlation spectroscopy (FCCS. The cauliflower mosaic virus 35S (CaMV35S promoter commonly used in transgenic products was targeted. CaMV35S target was captured by a biotin-labeled nucleic acid probe and then purified using streptavidin-coated magnetic beads through biotin-streptavidin linkage. The purified target DNA fragment was hybridized with two nucleic acid probes labeled respectively by Rhodamine Green and Cy5 dyes. Finally, FCCS was used to detect and quantify the target DNA fragment through simultaneously detecting the fluorescence emissions from the two dyes. In our study, GMOs in genetically engineered soybeans and tomatoes were detected, using the magnetic bead-based PCR-free FCCS method. A detection limit of 50 pM GMOs target was achieved and PCR-free detection of GMOs from 5 microg genomic DNA with magnetic capture technology was accomplished. Also, the accuracy of GMO determination by the FCCS method is verified by spectrophotometry at 260 nm using PCR amplified target DNA fragment from GM tomato. The new method is rapid and effective as demonstrated in our experiments and can be easily extended to high-throughput and automatic screening format. We believe that the new magnetic bead-assisted FCCS detection technique will be a useful tool for PCR-free GMOs identification and other specific nucleic acids.

  11. Predicting residue contacts using pragmatic correlated mutations method: reducing the false positives

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    Alexov Emil G

    2006-11-01

    Full Text Available Abstract Background Predicting residues' contacts using primary amino acid sequence alone is an important task that can guide 3D structure modeling and can verify the quality of the predicted 3D structures. The correlated mutations (CM method serves as the most promising approach and it has been used to predict amino acids pairs that are distant in the primary sequence but form contacts in the native 3D structure of homologous proteins. Results Here we report a new implementation of the CM method with an added set of selection rules (filters. The parameters of the algorithm were optimized against fifteen high resolution crystal structures with optimization criterion that maximized the confidentiality of the predictions. The optimization resulted in a true positive ratio (TPR of 0.08 for the CM without filters and a TPR of 0.14 for the CM with filters. The protocol was further benchmarked against 65 high resolution structures that were not included in the optimization test. The benchmarking resulted in a TPR of 0.07 for the CM without filters and to a TPR of 0.09 for the CM with filters. Conclusion Thus, the inclusion of selection rules resulted to an overall improvement of 30%. In addition, the pair-wise comparison of TPR for each protein without and with filters resulted in an average improvement of 1.7. The methodology was implemented into a web server http://www.ces.clemson.edu/compbio/recon that is freely available to the public. The purpose of this implementation is to provide the 3D structure predictors with a tool that can help with ranking alternative models by satisfying the largest number of predicted contacts, as well as it can provide a confidence score for contacts in cases where structure is known.

  12. Endotoxin levels correlate positively with a sedentary lifestyle and negatively with highly trained subjects.

    Science.gov (United States)

    Lira, Fabio S; Rosa, Jose C; Pimentel, Gustavo D; Souza, Hélio A; Caperuto, Erico C; Carnevali, Luiz C; Seelaender, Marília; Damaso, Ana R; Oyama, Lila M; de Mello, Marco T; Santos, Ronaldo V

    2010-08-04

    A sedentary lifestyle increases the risk of developing cardiovascular disease, obesity, and diabetes. This phenomenon is supported by recent studies suggesting a chronic, low-grade inflammation status. Endotoxin derived from gut flora may be key to the development of inflammation by stimulating the secretion of inflammatory factors. This study aimed to examine plasma inflammatory markers and endotoxin levels in individuals with a sedentary lifestyle and/or in highly trained subjects at rest. Fourteen male subjects (sedentary lifestyle n = 7; highly trained subjects n = 7) were recruited. Blood samples were collected after an overnight fast (approximately 12 h). The plasmatic endotoxin, plasminogen activator inhibitor type-1 (PAI-1), monocyte chemotactic protein-1 (MCP1), ICAM/CD54, VCAM/CD106 and lipid profile levels were determined. Endotoxinemia was lower in the highly trained subject group relative to the sedentary subjects (p < 0.002). In addition, we observed a positive correlation between endotoxin and PAI-1 (r = 0.85, p < 0.0001), endotoxin and total cholesterol (r = 0.65; p < 0.01), endotoxin and LDL-c (r = 0.55; p < 0.049) and endotoxin and TG levels (r = 0.90; p < 0.0001). The plasma levels of MCP-1, ICAM/CD54 and VCAM/CD106 did not differ. These results indicate that a lifestyle associated with high-intensity and high-volume exercise induces favorable changes in chronic low-grade inflammation markers and may reduce the risk for diseases such as obesity, diabetes and cardiovascular diseases.

  13. Plasma adiponectin levels correlate positively with an increasing number of components of frailty in male elders.

    Directory of Open Access Journals (Sweden)

    Jaw-Shiun Tsai

    Full Text Available OBJECTIVE: Frailty is an important geriatric syndrome. Adiponectin is an important adipokine that regulates energy homeostasis. The aim of this study is to investigate the relationship between plasma adiponectin levels and frailty in elders. METHODS: The demographic data, body weight, metabolic and inflammatory parameters, including plasma glucose, total cholesterol, triglyceride, tumor necrosis factor alpha (TNF-α, c-reactive protein (CRP and adiponectin levels, were assessed. The frailty score was assessed using the Fried Frailty Index (FFI. RESULTS: The mean (SD age of the 168 participants [83 (49.4% men and 85 (50.6% women] was 76.86 (6.10 years. Judged by the FFI score, 42 (25% elders were robust, 92 (54.7% were pre-frail, and 34 (20.3% were frail. The mean body mass index was 25.19 (3.42 kg/m(2. The log-transformed mean (SD plasma adiponectin (µg/mL level was 1.00 (0.26. The log-transformed mean plasma adiponectin (µg/mL levels were 0.93 (0.23 in the robust elders, 1.00 (0.27 in the pre-frail elders, and 1.10 (0.22 in the frail elders, and the differences between these values were statistically significant (p  = 0.012. Further analysis showed that plasma adiponectin levels rose progressively with an increasing number of components of frailty in all participants as a whole (p for trend  = 0.024 and males (p for trend  = 0.037, but not in females (p for trend  = 0.223. CONCLUSION: Plasma adiponectin levels correlate positively with an increasing number of components of frailty in male elders. The difference between the sexes suggests that certain sex-specific mechanisms may exist to affect the association between adiponectin levels and frailty.

  14. Genetic features of circular bacteriocins produced by Gram-positive bacteria

    NARCIS (Netherlands)

    Maqueda, Mercedes; Sánchez-Hidalgo, Marina; Fernández, Matilde; Montalbán-López, Manuel; Valdivia, Eva; Martínez-Bueno, Manuel

    This review highlights the main genetic features of circular bacteriocins, which require the co-ordinated expression of several genetic determinants. In general terms, it has been demonstrated that the expression of such structural genes must be combined with the activity of proteins involved in

  15. Mate choice for nonadditive genetic benefits correlate with MHC dissimilarity in the rose bitterling (Rhodeus ocellatus)

    Czech Academy of Sciences Publication Activity Database

    Agbali, M.; Reichard, Martin; Bryjová, Anna; Bryja, Josef; Smith, C.

    2010-01-01

    Roč. 64, č. 6 (2010), s. 1683-1696 ISSN 0014-3820 R&D Projects: GA AV ČR IAA600930608; GA ČR GA206/09/1163 Institutional research plan: CEZ:AV0Z60930519 Keywords : Additive genetic benefit * female mate choice * genetic compatibility * good genes * mate choice * MHC * nonadditive genetic benefit * olfactory cues * Rhodeus ocellatus * sexual selection Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 5.659, year: 2010

  16. Genetic diversity and correlation with feline infectious peritonitis of feline coronavirus type I and II: a 5-year study in Taiwan.

    Science.gov (United States)

    Lin, Chao-Nan; Su, Bi-Ling; Wang, Ching-Ho; Hsieh, Ming-Wei; Chueh, Ti-Jen; Chueh, Ling-Ling

    2009-05-12

    The outcomes of feline coronavirus (FCoV) infection vary greatly from asymptomatic or mild enteric infection to fatal feline infectious peritonitis (FIP). On the basis of in vitro neutralization tests, FCoVs can be divided into two serotypes. To explore the correlation between different types of FCoV and FIP, clinical specimens collected from 363 naturally infected cats during 2003-2007 were analyzed. Amplification of a portion of the S gene from the FCoV was performed and a total of 222 cases were differentiated. Among them, 197 (88.7%) cats were type I-positive, 13 (5.9%) were type II-positive, and 12 (5.4%) were positive for both types. Irrespective of the predominance of type I FCoV infection in Taiwan, type II FCoV demonstrated a significantly higher correlation with FIP (p<0.01). Analysis of partial S gene sequences of the local type I and II FCoVs strains revealed that type I viruses were more genetically divergent (6.2-11.7%) than type II viruses (0.6-3.2%) within the 5-year study period. The higher genetic diversity of type I FCoVs might be due to the larger infected cat population and to the long period of viral persistence in asymptomatic cats in comparison to type II viruses.

  17. A position-sensitive scintillation detector for two-dimensional angular correlation of annihilation radiation using metal-package position-sensitive photomultiplier tubes

    International Nuclear Information System (INIS)

    Inoue, Koji; Nagai, Yasuyoshi; Saito, Haruo; Nagashima, Yasuyuki; Hyodo, Toshio; Muramatsu, Shinichi; Nagai, Shota

    1999-01-01

    We have constructed and tested a prototype of a new position sensitive γ-ray detector which consists of an array of 2.6x2.6x18 mm 3 BGO scintillator blocks, a light guide, and four metal-package position-sensitive photomultiplier tubes (R5900-00-C8) recently developed by Hamamatsu Photonics Co. Ltd. Scalability of the detector of this type makes it possible to construct a larger detector using many PS-PMTs, which will be useful for the two-dimensional angular correlation of annihilation radiation apparatus

  18. Genetic and Environmental Influences on Correlations Between Hearing and Cognitive Functions in Middle and Older Chinese Twins

    DEFF Research Database (Denmark)

    Xu, Chunsheng; Zhang, Dongfeng; Tian, Xiaocao

    2017-01-01

    , including 0.5 kHz, 1 kHz, 2 kHz, 4 kHz, 8 kHz, and 12.5 kHz, with the lower hearing thresholds indicating better hearing function. Cognitive and hearing functions were measured on 379 complete twin pairs (240 monozygotic and 139 dizygotic pairs) with a median age of 50 years (range: 40-80 years). Bivariate...... twin models were fitted to quantify the genetic and environmental components of the correlations between hearing and cognitive functions. The analysis showed significantly high genetic correlation between 2 kHz of hearing and cognition (r G = -1.00, 95% CI [-1.00, -0.46]) and moderate genetic...

  19. Expression of Vitamin D Receptor (VDR Positively Correlates with Survival of Urothelial Bladder Cancer Patients

    Directory of Open Access Journals (Sweden)

    Wojciech Jóźwicki

    2015-10-01

    Full Text Available Vitamin D3 shows tumoristatic and anticancer effects by acting through the vitamin D receptor (VDR, while hydroxylation of 25-hydroxyvitamin D3 at position 1α by CYP27B1 is an essential step in its activation. The expression of both the VDR and CYP27B1 has been found in many normal and cancer tissues, but there is a lack of information about its expression in human bladder cancers. The aim of the present research was to examine whether the expression of the VDR and CYP27B1 in bladder cancer was related to the prognostic markers and disease outcome. We analyzed VDR and CYP27B1 in samples of tumor and normal tissues obtained from 71 urinary bladder cancer patients. The highest VDR immunostaining was found in normal epithelium and was significantly lower in bladder cancer cells (p < 0.001 with Mann–Whitney U test. VDR expression was lowest in more advanced (pT2b–pT4 (p = 0.005 with Mann–Whitney U test and metastasizing cancers (p < 0.05 and p = 0.004 with Mann–Whitney U test for nuclear and cytoplasmic VDR immunostaining, respectively. The lack of cytoplasmic and nuclear VDR was also related to shorter overall survival (for cytoplasmic VDR immunolocalization 13.3 vs. 55.3 months of survival, HR = 1.92, p = 0.04 and for nuclear VDR immunostaining 13.5 vs. 55.3 months of survival, HR = 2.47, p = 0.002 with Mantel-Cox test. In cases with the lack of high cytoplasmic VDR staining the non-classic differentiations (NDs was observed in higher percentage of tumor area. CYP27B1 expression was lower in cancer cells than in normal epithelial cells (p = 0.03 with Mann–Whitney U test, but its expression did not correlate with tumor stage (pT, metastasizing, grade, mitotic activity or overall survival. In conclusion, expression of the VDR and CYP27B1 are deregulated in urothelial bladder cancers. Although our results showing a relationship between the decreased VDR expression and prognostic markers and survival time indicate potential usefulness of

  20. Pantoea ananatis Genetic Diversity Analysis Reveals Limited Genomic Diversity as Well as Accessory Genes Correlated with Onion Pathogenicity

    Directory of Open Access Journals (Sweden)

    Shaun P. Stice

    2018-02-01

    Full Text Available Pantoea ananatis is a member of the family Enterobacteriaceae and an enigmatic plant pathogen with a broad host range. Although P. ananatis strains can be aggressive on onion causing foliar necrosis and onion center rot, previous genomic analysis has shown that P. ananatis lacks the primary virulence secretion systems associated with other plant pathogens. We assessed a collection of fifty P. ananatis strains collected from Georgia over three decades to determine genetic factors that correlated with onion pathogenic potential. Previous genetic analysis studies have compared strains isolated from different hosts with varying diseases potential and isolation sources. Strains varied greatly in their pathogenic potential and aggressiveness on different cultivated Allium species like onion, leek, shallot, and chive. Using multi-locus sequence analysis (MLSA and repetitive extragenic palindrome repeat (rep-PCR techniques, we did not observe any correlation between onion pathogenic potential and genetic diversity among strains. Whole genome sequencing and pan-genomic analysis of a sub-set of 10 strains aided in the identification of a novel series of genetic regions, likely plasmid borne, and correlating with onion pathogenicity observed on single contigs of the genetic assemblies. We named these loci Onion Virulence Regions (OVR A-D. The OVR loci contain genes involved in redox regulation as well as pectate lyase and rhamnogalacturonase genes. Previous studies have not identified distinct genetic loci or plasmids correlating with onion foliar pathogenicity or pathogenicity on a single host pathosystem. The lack of focus on a single host system for this phytopathgenic disease necessitates the pan-genomic analysis performed in this study.

  1. Correlation of cancer incidence with diet, smoking and socio- economic position across 22 districts of Tehran in 2008.

    Science.gov (United States)

    Rohani-Rasaf, Marzieh; Abdollahi, Morteza; Jazayeri, Shima; Kalantari, Naser; Asadi-Lari, Mohsen

    2013-01-01

    Variation in cancer incidence in geographical locations is due to different lifestyles and risk factors. Diet and socio-economic position (SEP) have been identified as important for the etiology of cancer but patterns are changing and inconsistent. The aim of this study was to investigate correlations of the incidence of common cancers with food groups, total energy, smoking, and SEP. In an ecological study, disaggregated cancer data through the National Cancer Registry in Iran (2008) and dietary intake, smoking habits and SEP obtained through a population based survey within the Urban Health Equity Assessment (Urban-HEART) project were correlated across 22 districts of Tehran. Consumption of fruit, meat and dairy products adjusted for energy were positively correlated with bladder, colorectal, prostate and breast and total cancers in men and women, while these cancers were adversely correlated with bread and fat intake. Also prostate, breast, colorectal, bladder and ovarian cancers had a positive correlation with SEP; there was no correlation between SEP and skin cancer in both genders and stomach cancer in men. The incidence of cancer was higher in some regions of Tehran which appeared to be mainly determined by SEP rather than dietary intake. Further individual data are required to investigate reasons of cancer clustering.

  2. Change in genetic correlation due to selection using animal model evaluation.

    Science.gov (United States)

    Strandén, I; Mäntysaari, E A; Mäki-Tanila, A

    1993-01-12

    Monte Carlo simulation and analytical calculations were used to study the effect of selection on genetic correlation between two traits. The simulated breeding program was based on a closed adult multiple ovulation and embryo transfer nucleus breeding scheme. Selection was on an index calculated using multi-trait animal model (AM). Analytical formulae applicable to any evaluation method were derived to predict change in genetic (co)variance due to selection under multi-trait selection using different evaluation methods. Two formulae were investigated, one assuming phenotypic selection and the other based on a recursive two-generation AM selection index. The recursive AM method approximated information due to relatives by a relationship matrix of two generations. Genetic correlation after selection was compared under different levels of initial genetic and environmental correlations with two different selection criteria. Changes in genetic correlation were similar in simulation and analytical predictions. After one round of selection the recursive AM method and the simulation gave similar predictions while the phenotypic selection predicted usually more change in genetic correlation. After several rounds of selection both analytical formulae predicted more change in genetic correlation than the simulation. ZUSAMMENFASSUNG: Änderung der genetischen Korrelation bei Selektion mit einem Tiermodell Der Selektionseffekt auf die genetische Korrelation zwischen zwei Merkmalen wurde mit Hilfe von Monte Carlo-Simulation und analytischen Berechnungen untersucht. Ein geschlossener Adulter - MOET (Multiple Ovulation and Embryo Transfer) Zuchtplan wurde simuliert. Die Selektion gründete sich auf einen Index, der die Zuchtwertschätzung des Mehrmerkmals-Tiermodells benutzte. Analytische Formeln für die Voraussage der Änderung der genetischen (Ko)varianz unter multivariate Selektion für verschiedene Zuchtwertschätzungsmethode wurden deduziert. Zwei Formeln wurden studiert

  3. Heritability and genetic correlation between GERD symptoms severity, metabolic syndrome, and inflammation markers in families living in Mexico City

    Science.gov (United States)

    Reding-Bernal, Arturo; Sánchez-Pedraza, Valentin; Moreno-Macías, Hortensia; Sobrino-Cossio, Sergio; Tejero-Barrera, María Elizabeth; Burguete-García, Ana Isabel; León-Hernández, Mireya; Serratos-Canales, María Fabiola; Duggirala, Ravindranath; López-Alvarenga, Juan Carlos

    2017-01-01

    Objective The aim of this study was to estimate the heritability (h2) and genetic correlation (ρG) between GERD symptoms severity, metabolic syndrome components, and inflammation markers in Mexican families. Methods Cross-sectional study which included 32 extended families resident in Mexico City. GERD symptoms severity was assessed by the ReQuest in Practice questionnaire. Heritability and genetic correlation were determined using the Sequential Oligogenic Linkage Analysis Routines software. Results 585 subjects were included, the mean age was 42 (±16.7) years, 57% were women. The heritability of the severity of some GERD symptoms was h2 = 0.27, 0.27, 0.37, and 0.34 (p-value metabolic syndrome components ranged from 0.40 for fasting plasma glucose to 0.61 for body mass index and diabetes mellitus. The heritability for fibrinogen and C-reactive protein was 0.64 and 0.38, respectively. Statistically significant genetic correlations were found between acidity complaints and fasting plasma glucose (ρG = 0.40); sleep disturbances and fasting plasma glucose (ρG = 0.36); acidity complaints and diabetes mellitus (ρG = 0.49) and between total ReQuest score and fasting plasma glucose (ρG = 0.43). The rest of metabolic syndrome components did not correlate with GERD symptoms. Conclusion Genetic factors substantially explain the phenotypic variance of the severity of some GERD symptoms, metabolic syndrome components and inflammation markers. Observed genetic correlations suggest that these phenotypes share common genes. These findings suggest conducting further investigation, as the determination of a linkage analysis in order to identify regions of susceptibility for developing of GERD and metabolic syndrome. PMID:28582452

  4. Testing positive for a genetic predisposition to depression magnifies retrospective memory for depressive symptoms.

    Science.gov (United States)

    Lebowitz, Matthew S; Ahn, Woo-Kyoung

    2017-11-01

    Depression, like other mental disorders and health conditions generally, is increasingly construed as genetically based. This research sought to determine whether merely telling people that they have a genetic predisposition to depression can cause them to retroactively remember having experienced it. U.S. adults (men and women) were recruited online to participate (Experiment 1: N = 288; Experiment 2: N = 599). After conducting a test disguised as genetic screening, we randomly assigned some participants to be told that they carried elevated genetic susceptibility to depression, whereas others were told that they did not carry this genetic liability or were told that they carried elevated susceptibility to a different disorder. Participants then rated their experience of depressive symptoms over the prior 2 weeks on a modified version of the Beck Depression Inventory-II. Participants who were told that their genes predisposed them to depression generally reported higher levels of depressive symptomatology over the previous 2 weeks, compared to those who did not receive this feedback. Given the central role of self-report in psychiatric diagnosis, these findings highlight potentially harmful consequences of personalized genetic testing in mental health. (PsycINFO Database Record (c) 2017 APA, all rights reserved).

  5. Indoor high precision three-dimensional positioning system based on visible light communication using modified genetic algorithm

    Science.gov (United States)

    Chen, Hao; Guan, Weipeng; Li, Simin; Wu, Yuxiang

    2018-04-01

    To improve the precision of indoor positioning and actualize three-dimensional positioning, a reversed indoor positioning system based on visible light communication (VLC) using genetic algorithm (GA) is proposed. In order to solve the problem of interference between signal sources, CDMA modulation is used. Each light-emitting diode (LED) in the system broadcasts a unique identity (ID) code using CDMA modulation. Receiver receives mixed signal from every LED reference point, by the orthogonality of spreading code in CDMA modulation, ID information and intensity attenuation information from every LED can be obtained. According to positioning principle of received signal strength (RSS), the coordinate of the receiver can be determined. Due to system noise and imperfection of device utilized in the system, distance between receiver and transmitters will deviate from the real value resulting in positioning error. By introducing error correction factors to global parallel search of genetic algorithm, coordinates of the receiver in three-dimensional space can be determined precisely. Both simulation results and experimental results show that in practical application scenarios, the proposed positioning system can realize high precision positioning service.

  6. Genetic correlations of clinical mastitis and feet and legs problems with milk yield and type traits in Dutch Black and White dairy cattle.

    NARCIS (Netherlands)

    Groen, A.F.; Hellinga, I.; Oldenbroek, J.K.

    1994-01-01

    Direct selection for decreased disease incidence is difficult given low hsuperscript 2s and the absence of disease recording. Genetic correlations between diseases and type traits indicate possibilities for indirect selection; however, correlations often include experimentally instead of routinely

  7. Molecular genetics of growth hormone deficient children: correlation with auxology and response to first year of growth hormone therapy.

    Science.gov (United States)

    Khadilkar, Vaman; Phadke, Nikhil; Khatod, Kavita; Ekbote, Veena; Gupte, Supriya Phanse; Nadar, Ruchi; Khadilkar, Anuradha

    2017-05-24

    With the paucity of available literature correlating genetic mutation and response to treatment, we aimed to study the genetic makeup of children with growth hormone (GH) deficiency in Western India and correlate the mutation with auxology and response to GH treatment at end of 1 year. Fifty-three (31 boys and 22 girls) children with severe short stature (height for age z-score imaging (MRI) brain scan was done in all. Genetic mutations were tested for in GH1, GHRH, LHX3, LHX4 and PROP1, POU1F1 and HESX1 genes. Mean age at presentation was 9.7±5.1 years. Thirty-seven children (Group A) had no genetic mutation detected. Six children (Group B) had mutations in the GH releasing hormone receptor (GHRHR) gene, while eight children (Group C) had mutation in the GH1 gene. In two children, one each had a mutation in PROP1 and LHX3. There was no statistically significant difference in baseline height, weight and BMI for age z-score and height velocity for age z-score (HVZ). HVZ was significantly lower, post 1 year GH treatment in the group with homozygous GH1 deletion than in children with no genetic defect. Response to GH at the end of 1 year was poor in children with the homozygous GH1 deletion as compared to those with GHRHR mutation or without a known mutation.

  8. Genetic correlations among body condition score, yield, and fertility in first-parity cows estimated by random regression models.

    Science.gov (United States)

    Veerkamp, R F; Koenen, E P; De Jong, G

    2001-10-01

    Twenty type classifiers scored body condition (BCS) of 91,738 first-parity cows from 601 sires and 5518 maternal grandsires. Fertility data during first lactation were extracted for 177,220 cows, of which 67,278 also had a BCS observation, and first-lactation 305-d milk, fat, and protein yields were added for 180,631 cows. Heritabilities and genetic correlations were estimated using a sire-maternal grandsire model. Heritability of BCS was 0.38. Heritabilities for fertility traits were low (0.01 to 0.07), but genetic standard deviations were substantial, 9 d for days to first service and calving interval, 0.25 for number of services, and 5% for first-service conception. Phenotypic correlations between fertility and yield or BCS were small (-0.15 to 0.20). Genetic correlations between yield and all fertility traits were unfavorable (0.37 to 0.74). Genetic correlations with BCS were between -0.4 and -0.6 for calving interval and days to first service. Random regression analysis (RR) showed that correlations changed with days in milk for BCS. Little agreement was found between variances and correlations from RR, and analysis including a single month (mo 1 to 10) of data for BCS, especially during early and late lactation. However, this was due to excluding data from the conventional analysis, rather than due to the polynomials used. RR and a conventional five-traits model where BCS in mo 1, 4, 7, and 10 was treated as a separate traits (plus yield or fertility) gave similar results. Thus a parsimonious random regression model gave more realistic estimates for the (co)variances than a series of bivariate analysis on subsets of the data for BCS. A higher genetic merit for yield has unfavorable effects on fertility, but the genetic correlation suggests that BCS (at some stages of lactation) might help to alleviate the unfavorable effect of selection for higher yield on fertility.

  9. Elevation in D-dimer concentrations is positively correlated with gestation in normal uncomplicated pregnancy

    Directory of Open Access Journals (Sweden)

    Jeremiah ZA

    2012-08-01

    Full Text Available Zaccheaus A Jeremiah,1 Teddy C Adias,2 Margaret Opiah,3 Siyeoforiye P George,4 Osaro Mgbere,5 Ekere J Essien61Department of Medical Laboratory Sciences, Niger Delta University, Wilberforce Island, Nigeria; 2Bayelsa State College of Health Technology, Ogbia-Town, Nigeria; 3Department of Maternal and Child Health, Faculty of Nursing, Niger Delta University, Wilberforce Island, Nigeria; 4Postgraduate Hematology Unit, Rivers State University of Science and Technology, Port Harcourt, Nigeria; 5Houston Department of Health and Human Services, Houston, TX, USA; 6Institute of Community Health, University of Houston, Houston, TX, USABackground: D-dimer levels have been reported to increase progressively during pregnancy, but how this affects Nigerian women is not well known.Objective: This study aims to determine the D-dimer concentration and its relationship to other coagulation parameters among pregnant women in Port Harcourt, Nigeria.Method: In a cross-sectional observational study conducted in Port Harcourt, Nigeria, 120 pregnant women and 60 nonpregnant controls, drawn from a tertiary health institution in the Niger Delta, Nigeria, were assessed, using the standard procedures, for the following parameters: D-dimer concentration, prothrombin time, activated partial thromboplastin time, platelet count, hemoglobin, and packed cell volume.Results: The median D-dimer concentration of 153.1 ng/mL in the pregnant group was found to be significantly elevated when compared with the control value of 118.5 ng/mL (t = 2.348, P = 0.021. Conversely, there was a marked depression in the platelet count among pregnant women (193.5 × 109/L when compared with 229.0 × 109/L in the control group (t = 3.424; P = 0.001. There was no statistically significant difference in the values for the prothrombin time and the activated partial thromboplastin time between pregnant and nonpregnant women. D-dimer values correlated positively and significantly with gestation (r = 0

  10. Timing the tides: genetic control of diurnal and lunar emergence times is correlated in the marine midge Clunio marinus.

    Science.gov (United States)

    Kaiser, Tobias S; Neumann, Dietrich; Heckel, David G

    2011-05-20

    The intertidal zone of seacoasts, being affected by the superimposed tidal, diurnal and lunar cycles, is temporally the most complex environment on earth. Many marine organisms exhibit lunar rhythms in reproductive behaviour and some show experimental evidence of endogenous control by a circalunar clock, the molecular and genetic basis of which is unexplored. We examined the genetic control of lunar and diurnal rhythmicity in the marine midge Clunio marinus (Chironomidae, Diptera), a species for which the correct timing of adult emergence is critical in natural populations. We crossed two strains of Clunio marinus that differ in the timing of the diurnal and lunar rhythms of emergence. The phenotype distribution of the segregating backcross progeny indicates polygenic control of the lunar emergence rhythm. Diurnal timing of emergence is also under genetic control, and is influenced by two unlinked genes with major effects. Furthermore, the lunar and diurnal timing of emergence is correlated in the backcross generation. We show that both the lunar emergence time and its correlation to the diurnal emergence time are adaptive for the species in its natural environment. The correlation implies that the unlinked genes affecting lunar timing and the two unlinked genes affecting diurnal timing could be the same, providing an unexpectedly close interaction of the two clocks. Alternatively, the genes could be genetically linked in a two-by-two fashion, suggesting that evolution has shaped the genetic architecture to stabilize adaptive combinations of lunar and diurnal emergence times by tightening linkage. Our results, the first on genetic control of lunar rhythms, offer a new perspective to explore their molecular clockwork.

  11. Efficient multiple-trait association and estimation of genetic correlation using the matrix-variate linear mixed model.

    Science.gov (United States)

    Furlotte, Nicholas A; Eskin, Eleazar

    2015-05-01

    Multiple-trait association mapping, in which multiple traits are used simultaneously in the identification of genetic variants affecting those traits, has recently attracted interest. One class of approaches for this problem builds on classical variance component methodology, utilizing a multitrait version of a linear mixed model. These approaches both increase power and provide insights into the genetic architecture of multiple traits. In particular, it is possible to estimate the genetic correlation, which is a measure of the portion of the total correlation between traits that is due to additive genetic effects. Unfortunately, the practical utility of these methods is limited since they are computationally intractable for large sample sizes. In this article, we introduce a reformulation of the multiple-trait association mapping approach by defining the matrix-variate linear mixed model. Our approach reduces the computational time necessary to perform maximum-likelihood inference in a multiple-trait model by utilizing a data transformation. By utilizing a well-studied human cohort, we show that our approach provides more than a 10-fold speedup, making multiple-trait association feasible in a large population cohort on the genome-wide scale. We take advantage of the efficiency of our approach to analyze gene expression data. By decomposing gene coexpression into a genetic and environmental component, we show that our method provides fundamental insights into the nature of coexpressed genes. An implementation of this method is available at http://genetics.cs.ucla.edu/mvLMM. Copyright © 2015 by the Genetics Society of America.

  12. Studies on correlation of positive surgical margin with clinicopathological factors and prognoses in breast conserving surgery

    International Nuclear Information System (INIS)

    Nishimura, Reiki; Nagao, Kazuharu; Miyayama, Haruhiko

    1999-01-01

    Out of 484 cases with breast conserving surgery between April 1989 and March 1999, surgical procedures of 34 cases were changed to total mastectomy due to positive surgical margins. In this study we evaluated a clinical significance of surgical margin in relation to clinicopathological factors and prognoses. Ninety-nine cases (20.5%) had positive margins that were judged when cancer cells existed within 5 mm from margin. In multivariate analysis of factors for surgical margin, EIC-comedo status, ly, located site, proliferative activity, and age were significant and independent factors. Regarding local recurrence, positive margin, age, ER and proliferative activity were significant factors in multivariate analysis, especially in cases not receiving postoperative radiation therapy. Radiation therapy may be beneficial for patients with positive surgical margin. And patients with breast recurrence alone had significantly higher survival rates. Therefore, it is suggested that surgical margin may not reflect survival, although it is a significant factor for local recurrence. (author)

  13. Studies on correlation of positive surgical margin with clinicopathological factors and prognoses in breast conserving surgery

    Energy Technology Data Exchange (ETDEWEB)

    Nishimura, Reiki; Nagao, Kazuharu; Miyayama, Haruhiko [Kumamoto City Hospital (Japan)

    1999-09-01

    Out of 484 cases with breast conserving surgery between April 1989 and March 1999, surgical procedures of 34 cases were changed to total mastectomy due to positive surgical margins. In this study we evaluated a clinical significance of surgical margin in relation to clinicopathological factors and prognoses. Ninety-nine cases (20.5%) had positive margins that were judged when cancer cells existed within 5 mm from margin. In multivariate analysis of factors for surgical margin, EIC-comedo status, ly, located site, proliferative activity, and age were significant and independent factors. Regarding local recurrence, positive margin, age, ER and proliferative activity were significant factors in multivariate analysis, especially in cases not receiving postoperative radiation therapy. Radiation therapy may be beneficial for patients with positive surgical margin. And patients with breast recurrence alone had significantly higher survival rates. Therefore, it is suggested that surgical margin may not reflect survival, although it is a significant factor for local recurrence. (author)

  14. The Correlation of Initial Sputum Smear Positivity on Treatment Failure of Category 1 Therapy for Pulmonary Tuberculosis

    Directory of Open Access Journals (Sweden)

    Puput Dyah Ayu

    2016-11-01

    Full Text Available Tuberculosis is an infectious disease and is an important public health problem. Based on data from East Java Province Health Department reported that number of tuberculosis patient in Surabaya is the highest in East Java on year 2014. Early identification and good treatment based on the result of sputum identification are the strategy use to control tuberculosis widespread. So that why, microscopic observation to identify acid fast bacilli (AFB is the fundamental stage to determine recovery treatment. Initial sputum smear positivity is necessary to determine infectious graded. The objectives of the study were to identify of initial sputum smear positivity on treatment failure of category 1 therapy for pulmonary tuberculosis in RS Paru Surabaya year 2011-2014. This study used case control method with quantitative approach. Forty two samples were taken from secondary data. Case group is 21 samples who have treatment failure and control group is 21 successful treatment. Samples were selected by simple random sampling. The chi square correlation showed that highly positive initial smear (p = 0,045; OR = 5,4 have correlated and risk factor to treatment failure on category 1 therapy for pulmonary tuberculosis. The conclusion is patient’s high positive sputum smear initially correlated to treatment failure on category 1 therapy for pulmonary tuberculosis in RS Paru Surabaya year 2011–2014. Keywords: initial sputum smear positivity, treatment failure,, category 1 therapy for pulmonary tuberculosis

  15. Positive schizotypy scores correlate with left visual field interference for negatively valenced emotional words: A lateralized emotional Stroop study.

    Science.gov (United States)

    Van Strien, Jan W; Van Kampen, Dirk

    2009-10-30

    Fourteen men scoring high and 14 men scoring low on a positive schizotypy scale participated in a lateralized emotional Stroop task. Vocal reaction times for color naming of neutral, positive and negative emotional words were recorded. Across participants, the color naming of neutral and emotional words was slightly faster to right than to left visual field presentations. In men with high scores on positive schizotypy, the presentation of negative words to the left visual field (right hemisphere) resulted in significant affective interference with color naming, which was significantly larger than in men with low scores. Correlational analysis also showed that positive schizotypy was significantly associated with emotional interference in response to LVF negative words. The outcome is discussed in terms of right hemispheric engagement in negative emotions in high positive schizotypic men.

  16. Genetic polymorphism within the Leishmania donovani complex: correlation with geographic origin

    Czech Academy of Sciences Publication Activity Database

    Zemanová, Eva; Jirků, Milan; Mauricio, I. L.; Miles, M. A.; Lukeš, Julius

    2004-01-01

    Roč. 70, č. 6 (2004), s. 613-617 ISSN 0002-9637 Grant - others:European Community(XE) QLK2-CT-2001-01810 Institutional research plan: CEZ:AV0Z6022909 Keywords : genetic polymorphism * Leishmania donovani * RAPD Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 2.013, year: 2004

  17. The correlation of fecundability among twins: Evidence of a genetic effect on fertility?

    DEFF Research Database (Denmark)

    Christensen, Kaare; Kohler, Hans-Peter; Basso, Olga

    2003-01-01

    BACKGROUND: Numerous rare genetic conditions are known to influence fecundability in both males and females. It is less clear to what extent more subtle genetic differences influence fecundability on a population level. METHODS: In 1994 a population-based survey was conducted among Danish twins b...

  18. Positive correlation of serum leptin with estradiol levels in patients with polycystic ovary syndrome

    Directory of Open Access Journals (Sweden)

    Mendonça H.C.

    2004-01-01

    Full Text Available Patients with polycystic ovary syndrome (PCOS usually are obese, insulin resistant and hyperinsulinemic. The known association between leptin, obesity andinsulin action suggests that leptin may have a role in PCOS but this has only been addressed peripherally. This study was designed to assess the relationship between serum leptin and the anthropometric, metabolic and endocrine variables of obese (body mass index, BMI ³30 kg/m² and non-obese (BMI <30 kg/m² PCOS patients. Twenty-eight PCOS patients and 24 control women subdivided into obese and non-obese groups were evaluated. Leptin, androgens, lipids, gonadotrophins and insulin-glucose response to the oral glucose tolerance test were measured by radioimmunoassay in all participants. The assays were done all in one time. The areas under the insulin curve (AUC-I and the glycemia curve were calculated to identify patients with insulin resistance. Mean leptin levels were not significantly higher in patients with PCOS compared to the control group (21.2 ± 10.2 vs 27.3 ± 12.4 ng/ml. Leptin levels were found to be significantly higher in the obese subgroups both in patients with PCOS (26.9 ± 9.3 vs 14.1 ± 7.0 ng/ml and in the control group (37.3 ± 15.5 vs 12.9 ± 5.8 ng/ml. The leptin of the PCOS group was correlated with BMI (r = 0.74; P < 0.0001 and estradiol (r = 0.48; P < 0.008 and tended to be correlated with the AUC-I (r = 0.36; P = 0.05. Of the parameters which showed a correlation with leptin in PCOS, only estradiol and probably insulinemia (AUC-I did not show a significant correlation with BMI, suggesting that the other parameters were correlated with leptin due to their correlation with BMI. Estradiol correlated with leptin in PCOS patients regardless of their weight.

  19. Neural correlates of an early attentional capture by positive distractor words.

    Science.gov (United States)

    Hinojosa, José A; Mercado, Francisco; Albert, Jacobo; Barjola, Paloma; Peláez, Irene; Villalba-García, Cristina; Carretié, Luis

    2015-01-01

    Exogenous or automatic attention to emotional distractors has been observed for emotional scenes and faces. In the language domain, however, automatic attention capture by emotional words has been scarcely investigated. In the current event-related potentials study we explored distractor effects elicited by positive, negative and neutral words in a concurrent but distinct target distractor paradigm. Specifically, participants performed a digit categorization task in which task-irrelevant words were flanked by numbers. The results of both temporo-spatial principal component and source location analyses revealed the existence of early distractor effects that were specifically triggered by positive words. At the scalp level, task-irrelevant positive compared to neutral and negative words elicited larger amplitudes in an anterior negative component that peaked around 120 ms. Also, at the voxel level, positive distractor words increased activity in orbitofrontal regions compared to negative words. These results suggest that positive distractor words quickly and automatically capture attentional resources diverting them from the task where attention was voluntarily directed.

  20. Neural correlates of an early attentional capture by positive distractor words

    Directory of Open Access Journals (Sweden)

    José Antonio Hinojosa

    2015-01-01

    Full Text Available Exogenous or automatic attention to emotional distractors has been observed for emotional scenes and faces. In the language domain, however, automatic attention capture by emotional words has been scarcely investigated. In the current event-related potentials study we explored distractor effects elicited by positive, negative and neutral words in a concurrent but distinct target distractor paradigm. Specifically, participants performed a digit categorization task in which task-irrelevant words were flanked by numbers. The results of both temporo-spatial principal component and source location analyses revealed the existence of early distractor effects that were specifically triggered by positive words. At the scalp level, task-irrelevant positive compared to neutral and negative words elicited larger amplitudes in an anterior negative component that peaked around 120 ms. Also, at the voxel level, positive distractor words increased activity in orbitofrontal regions compared to negative words. These results suggest that positive distractor words quickly and automatically capture attentional resources diverting them from the task where attention was voluntarily directed.

  1. Genetic and evolutionary correlates of fine-scale recombination rate variation in Drosophila persimilis.

    Science.gov (United States)

    Stevison, Laurie S; Noor, Mohamed A F

    2010-12-01

    Recombination is fundamental to meiosis in many species and generates variation on which natural selection can act, yet fine-scale linkage maps are cumbersome to construct. We generated a fine-scale map of recombination rates across two major chromosomes in Drosophila persimilis using 181 SNP markers spanning two of five major chromosome arms. Using this map, we report significant fine-scale heterogeneity of local recombination rates. However, we also observed "recombinational neighborhoods," where adjacent intervals had similar recombination rates after excluding regions near the centromere and telomere. We further found significant positive associations of fine-scale recombination rate with repetitive element abundance and a 13-bp sequence motif known to associate with human recombination rates. We noted strong crossover interference extending 5-7 Mb from the initial crossover event. Further, we observed that fine-scale recombination rates in D. persimilis are strongly correlated with those obtained from a comparable study of its sister species, D. pseudoobscura. We documented a significant relationship between recombination rates and intron nucleotide sequence diversity within species, but no relationship between recombination rate and intron divergence between species. These results are consistent with selection models (hitchhiking and background selection) rather than mutagenic recombination models for explaining the relationship of recombination with nucleotide diversity within species. Finally, we found significant correlations between recombination rate and GC content, supporting both GC-biased gene conversion (BGC) models and selection-driven codon bias models. Overall, this genome-enabled map of fine-scale recombination rates allowed us to confirm findings of broader-scale studies and identify multiple novel features that merit further investigation.

  2. Alcohol use disorder and divorce: evidence for a genetic correlation in a population-based Swedish sample.

    Science.gov (United States)

    Salvatore, Jessica E; Larsson Lönn, Sara; Sundquist, Jan; Lichtenstein, Paul; Sundquist, Kristina; Kendler, Kenneth S

    2017-04-01

    We tested the association between alcohol use disorder (AUD) and divorce; estimated the genetic and environmental influences on divorce; estimated how much genetic and environmental influences accounted for covariance between AUD and divorce; and estimated latent genetic and environmental correlations between AUD and divorce. We tested sex differences in these effects. We identified twin and sibling pairs with AUD and divorce information in Swedish national registers. We described the association between AUD and divorce using tetrachorics and used twin and sibling models to estimate genetic and environmental influences on divorce, on the covariance between AUD and divorce and the latent genetic and environmental correlations between AUD and divorce. Sweden. A total of 670 836 individuals (53% male) born 1940-1965. Life-time measures of AUD and divorce. AUD and divorce were related strongly (males: r tet  = +0.44, 95% CI = 0.43, 0.45; females r tet  = +0.37, 95% CI = 0.36, 0.38). Genetic factors accounted for a modest proportion of the variance in divorce (males: 21.3%, 95% CI = 7.6, 28.5; females: 31.0%, 95% CI = 18.8, 37.1). Genetic factors accounted for most of the covariance between AUD and divorce (males: 52.0%, 95% CI = 48.8, 67.9; females: 53.74%, 95% CI = 17.6, 54.5), followed by non-shared environmental factors (males: 45.0%, 95% CI = 37.5, 54.9; females: 41.6%, 95% CI = 40.3, 60.2). Shared environmental factors accounted for a negligible proportion of the covariance (males: 3.0%, 95% CI = -3.0, 13.5; females: 4.75%, 95% CI = 0.0, 6.6). The AUD-divorce genetic correlations were high (males: rA = +0.76, 95% CI = 0.53, 0.90; females +0.52, 95% CI = 0.24, 0.67). The non-shared environmental correlations were modest (males: rE = +0.32, 95% CI = 0.31, 0.40; females: +0.27, 95% CI = 0.27, 0.36). Divorce and alcohol use disorder are correlated strongly in the Swedish population, and the heritability of divorce is consistent

  3. Neural correlates of preparatory and regulatory control over positive and negative emotion.

    Science.gov (United States)

    Seo, Dongju; Olman, Cheryl A; Haut, Kristen M; Sinha, Rajita; MacDonald, Angus W; Patrick, Christopher J

    2014-04-01

    This study used functional magnetic resonance imaging to investigate brain activation during preparatory and regulatory control while participants (N = 24) were instructed either to simply view or decrease their emotional response to, pleasant, neutral or unpleasant pictures. A main effect of emotional valence on brain activity was found in the right precentral gyrus, with greater activation during positive than negative emotion regulation. A main effect of regulation phase was evident in the bilateral anterior prefrontal cortex (PFC), precuneus, posterior cingulate cortex, right putamen and temporal and occipital lobes, with greater activity in these regions during preparatory than regulatory control. A valence X regulation interaction was evident in regions of ventromedial PFC and anterior cingulate cortex, reflecting greater activation while regulating negative than positive emotion, but only during active emotion regulation (not preparation). Conjunction analyses revealed common brain regions involved in differing types of emotion regulation including selected areas of left lateral PFC, inferior parietal lobe, temporal lobe, right cerebellum and bilateral dorsomedial PFC. The right lateral PFC was additionally activated during the modulation of both positive and negative valence. Findings demonstrate significant modulation of brain activity during both preparation for, and active regulation of positive and negative emotional states.

  4. Preferences in Sleep Position Correlate With Nighttime Paresthesias in Healthy People Without Carpal Tunnel Syndrome.

    Science.gov (United States)

    Roth Bettlach, Carrie L; Hasak, Jessica M; Krauss, Emily M; Yu, Jenny L; Skolnick, Gary B; Bodway, Greta N; Kahn, Lorna C; Mackinnon, Susan E

    2017-10-01

    Carpal tunnel syndrome has been associated with sleep position preferences. The aim of this study is to assess self-reported nocturnal paresthesias and sleeping position in participants with and without carpal tunnel syndrome diagnosis to further clinical knowledge for preventive and therapeutic interventions. A cross-sectional survey study of 396 participants was performed in young adults, healthy volunteers, and a patient population. Participants were surveyed on risk factors for carpal tunnel syndrome, nocturnal paresthesias, and sleep preferences. Binary logistic regression analysis was performed comparing participants with rare and frequent nocturnal paresthesias. Subanalyses for participants without carpal tunnel syndrome under and over 21 years of age were performed on all factors significantly associated with subclinical compression neuropathy in the overall population. Thirty-three percent of the study population experienced nocturnal paresthesias at least weekly. Increased body mass index ( P < .001) and sleeping with the wrist flexed ( P = .030) were associated with a higher frequency of nocturnal paresthesias. Side sleeping was associated with less frequent nocturnal symptoms ( P = .003). In participants without carpal tunnel syndrome, subgroup analysis illustrated a relationship between nocturnal paresthesias and wrist position. In participants with carpal tunnel syndrome, sleeping on the side had a significantly reduced frequency of nocturnal paresthesias. This study illustrates nocturnal paresthesias in people without history of carpal tunnel syndrome including people younger than previously reported. In healthy patients with upper extremity subclinical compression neuropathy, sleep position modification may be a useful intervention to reduce the frequency of nocturnal symptoms prior to developing carpal tunnel syndrome.

  5. Associations between socioeconomic position and correlates of sedentary behaviour among youth: a systematic review

    NARCIS (Netherlands)

    Gebremariam, M. K.; Altenburg, T. M.; Lakerveld, J.; Andersen, L. F.; Stronks, K.; Chinapaw, M. J.; Lien, N.

    2015-01-01

    Existing research evidence indicates that children and adolescents of parents with a low socioeconomic position spend more time on sedentary behaviour than their counterparts. However, the mechanisms driving these differences remain poorly understood. The main aim of this systematic review was to

  6. Noise genetics: inferring protein function by correlating phenotype with protein levels and localization in individual human cells.

    Directory of Open Access Journals (Sweden)

    Shlomit Farkash-Amar

    2014-03-01

    Full Text Available To understand gene function, genetic analysis uses large perturbations such as gene deletion, knockdown or over-expression. Large perturbations have drawbacks: they move the cell far from its normal working point, and can thus be masked by off-target effects or compensation by other genes. Here, we offer a complementary approach, called noise genetics. We use natural cell-cell variations in protein level and localization, and correlate them to the natural variations of the phenotype of the same cells. Observing these variations is made possible by recent advances in dynamic proteomics that allow measuring proteins over time in individual living cells. Using motility of human cancer cells as a model system, and time-lapse microscopy on 566 fluorescently tagged proteins, we found 74 candidate motility genes whose level or localization strongly correlate with motility in individual cells. We recovered 30 known motility genes, and validated several novel ones by mild knockdown experiments. Noise genetics can complement standard genetics for a variety of phenotypes.

  7. On the Existence and Robustness of Steady Position-Momentum Correlations for Time-Dependent Quadratic Systems

    Directory of Open Access Journals (Sweden)

    M. Gianfreda

    2012-01-01

    Full Text Available We discuss conditions giving rise to stationary position-momentum correlations among quantum states in the Fock and coherent basis associated with the natural invariant for the one-dimensional time-dependent quadratic Hamiltonian operators such as the Kanai-Caldirola Hamiltonian. We also discuss some basic features such as quantum decoherence of the wave functions resulting from the corresponding quantum dynamics of these systems that exhibit no timedependence in their quantum correlations. In particular, steady statistical momentum averages are seen over well-defined time intervals in the evolution of a linear superposition of the basis states of modified exponentially damped mass systems.

  8. Cognitive ability correlates positively with son birth and predicts cross-cultural variation of the offspring sex ratio

    Science.gov (United States)

    Dama, Madhukar Shivajirao

    2013-06-01

    Human populations show remarkable variation in the sex ratio at birth which is believed to be related to the parental condition. In the present study, the global variation of sex ratio at birth (SRB, proportion of male offspring born) was analyzed with respect to indirect measure of condition, the intelligence quotient (IQ). IQ correlates strongly with lifespan across nations, which makes it a good indicator of health of the large populations. Relation between three standard measures of average national IQ and SRB was studied using multiple linear regression models. Average national IQ was positively correlated with SRB ( r = 0.54 to 0.57, p difference in general condition of populations.

  9. Genetic and molecular functional characterization of variants within TNFSF13B, a positional candidate preeclampsia susceptibility gene on 13q.

    Directory of Open Access Journals (Sweden)

    Mona H Fenstad

    Full Text Available BACKGROUND: Preeclampsia is a serious pregnancy complication, demonstrating a complex pattern of inheritance. The elucidation of genetic liability to preeclampsia remains a major challenge in obstetric medicine. We have adopted a positional cloning approach to identify maternal genetic components, with linkages previously demonstrated to chromosomes 2q, 5q and 13q in an Australian/New Zealand familial cohort. The current study aimed to identify potential functional and structural variants in the positional candidate gene TNFSF13B under the 13q linkage peak and assess their association status with maternal preeclampsia genetic susceptibility. METHODOLOGY/PRINCIPAL FINDINGS: The proximal promoter and coding regions of the positional candidate gene TNFSF13B residing within the 13q linkage region was sequenced using 48 proband or founder individuals from Australian/New Zealand families. Ten sequence variants (nine SNPs and one single base insertion were identified and seven SNPs were successfully genotyped in the total Australian/New Zealand family cohort (74 families/480 individuals. Borderline association to preeclampsia (p = 0.0153 was observed for three rare SNPs (rs16972194, rs16972197 and rs56124946 in strong linkage disequilibrium with each other. Functional evaluation by electrophoretic mobility shift assays showed differential nuclear factor binding to the minor allele of the rs16972194 SNP, residing upstream of the translation start site, making this a putative functional variant. The observed genetic associations were not replicated in a Norwegian case/control cohort (The Nord-Trøndelag Health Study (HUNT2, 851 preeclamptic and 1,440 non-preeclamptic women. CONCLUSION/SIGNIFICANCE: TNFSF13B has previously been suggested to contribute to the normal immunological adaption crucial for a successful pregnancy. Our observations support TNFSF13B as a potential novel preeclampsia susceptibility gene. We discuss a possible role for TNFSF13B in

  10. A retrospective study to rule out possible association of genetic and non-genetic risk factors with specific brca mutation positive breast cancers is some Pakistani females

    International Nuclear Information System (INIS)

    Malik, S.; Imran, M.; Hanif, A.; Bilal, M.

    2009-01-01

    Breast cancer is the most common malignancy among Asian women including Pakistan where recurrent mutations among certain sub-ethnic groups predisposing to breast cancer have recently been established. Study Design: The current retrospective study involves identification of genetic and non-genetic risk factors in 27 specific mutation positive females out of a. total of 100 females diagnosed with breast cancer, representing a sample from the Punjabi ethnic population of the city of Lahore. The study has been carried out by telephonic communication with the mutation positive patients or their relatives. Results: Out of the total 27% patients positive for specific BRCA mutations, 23% were positive for BRCAI mutations and 4% for BRCA2. Among a total of 100 breast cancer patients the BRCAI-IVS14, lG>A mutation was identified in 5 Punjabi ethnic females with Rajput sub ethnicity, BRCAI-3889delAG in 10 (8 with Mughal and 2 with Khan sub ethnicity), BRCAI-2080insA in 8 (Rajput sub ethnics) and BRCA2-3337C>T in 4 (Minhas sub ethnic) subjects. Two BRCAI mutations, namely 3889delAG and 2080insA were found to coexist in only one study case (with Mughal sub ethnicity). All the mutation positive breast cancers had unilateral ductal carcinoma. Of the 23 cases positive for screened BRCAI mutations, 17 were diagnosed for breast cancer at a relatively early age (age<40) and 6 were diagnosed at late age (age<41) whereas all cases positive for single BRCA2 mutation under consideration were diagnosed at late age. Furthermore, 24 of 27 patients with specific BRCA mutations had a positive family history of breast cancer. The high prevalence of the screened BRCA mutations in certain Punjabi sub-ethnicities indicates the importance of counseling. It is suggested that consanguinity may be a risk factor for recurrent population specific mutations. Hormonal factors including use of oral contraceptives, polycystic ovaries, central obesity, nulliparity, late age at first pregnancy, lack of

  11. Correlative microscopy of radial junction nanowire solar cells using nanoindent position markers

    Czech Academy of Sciences Publication Activity Database

    Fejfar, Antonín; Hývl, Matěj; Vetushka, Aliaksi; Pikna, Peter; Hájková, Zdeňka; Ledinský, Martin; Kočka, Jan; Klapetek, P.; Marek, A.; Mašková, A.; Vyskočil, J.; Merkel, J.; Becker, Ch.; Itoh, T.; Misra, S.; Foldyna, M.; Yu, L.; Roca i Cabarrocas, P.

    2015-01-01

    Roč. 135, SI (2015), s. 106-112 ISSN 0927-0248 R&D Projects: GA MŠk 7E10061; GA MŠk(CZ) LM2011026; GA ČR GA13-12386S EU Projects: European Commission(XE) 240826 - PolySiMode Grant - others:AVČR(CZ) M100101216; AVČR(CZ) M100101217 Institutional support: RVO:68378271 Keywords : radial junction solar cells * silicon nanowires * thin films * structural disorder * conductive AFM * nanoindentation * correlative microscopy Subject RIV: BM - Solid Matter Physics ; Magnetism Impact factor: 4.732, year: 2015

  12. Increasing Public Awareness of Direct-to-Consumer Genetic Tests: Health Care Access, Internet Use, and Population Density Correlates

    International Nuclear Information System (INIS)

    Rutten, L. J. F.; Gollust, S. E.; Naveed, S.; Moser, R. P.

    2012-01-01

    Uncertainty around the value of and appropriate regulatory models for direct-to-consumer (DTC) genetic testing underscores the importance of tracking public awareness of these services. We analyzed nationally representative, cross-sectional data from the Health Information National Trends Survey in 2008 (n=7, 674) and 2011 (n=3, 959) to assess population-level changes in awareness of DTC genetic testing in the U.S. and to explore socio demographic, health care, Internet use, and population density correlates. Overall, awareness increased significantly from 29% in 2008 to 37% in 2011. The observed increase in awareness from 2008 to 2011 remained significant (OR=1.39) even when adjusted for socio demographic variables, health care access, Internet use, and population density. Independent of survey year, the odds of awareness of DTC genetic tests were significantly higher for those aged 50-64 (OR=1.64), and 65-74 (O R=1.60); college graduates (OR=2.02 ); those with a regular source of health care (OR=1.27); those with a prior cancer diagnosis (OR=1.24); those who use the Internet (OR=1.27); and those living in urban areas ( OR=1.25). Surveillance of awareness-along with empirical data on use of and response to genetic risk information-can inform public health and policy efforts to maximize benefits and minimize risks of DTC genetic testing.

  13. Increasing Public Awareness of Direct-to-Consumer Genetic Tests: Health Care Access, Internet Use, and Population Density Correlates

    Directory of Open Access Journals (Sweden)

    Lila J. Finney Rutten

    2012-01-01

    Full Text Available Uncertainty around the value of and appropriate regulatory models for direct-to-consumer (DTC genetic testing underscores the importance of tracking public awareness of these services. We analyzed nationally representative, cross-sectional data from the Health Information National Trends Survey in 2008 (n=7,674 and 2011 (n=3,959 to assess population-level changes in awareness of DTC genetic testing in the U.S. and to explore sociodemographic, health care, Internet use, and population density correlates. Overall, awareness increased significantly from 29% in 2008 to 37% in 2011. The observed increase in awareness from 2008 to 2011 remained significant (OR=1.39 even when adjusted for sociodemographic variables, health care access, Internet use, and population density. Independent of survey year, the odds of awareness of DTC genetic tests were significantly higher for those aged 50–64 (OR=1.64, and 65–74 (OR=1.60; college graduates (OR=2.02; those with a regular source of health care (OR=1.27; those with a prior cancer diagnosis (OR=1.24; those who use the Internet (OR=1.27; and those living in urban areas (OR=1.25. Surveillance of awareness—along with empirical data on use of and response to genetic risk information—can inform public health and policy efforts to maximize benefits and minimize risks of DTC genetic testing.

  14. Increasing Public Awareness of Direct-to-Consumer Genetic Tests: Health Care Access, Internet Use, and Population Density Correlates.

    Science.gov (United States)

    Finney Rutten, Lila J; Gollust, Sarah E; Naveed, Sana; Moser, Richard P

    2012-01-01

    Uncertainty around the value of and appropriate regulatory models for direct-to-consumer (DTC) genetic testing underscores the importance of tracking public awareness of these services. We analyzed nationally representative, cross-sectional data from the Health Information National Trends Survey in 2008 (n = 7, 674) and 2011 (n = 3, 959) to assess population-level changes in awareness of DTC genetic testing in the U.S. and to explore sociodemographic, health care, Internet use, and population density correlates. Overall, awareness increased significantly from 29% in 2008 to 37% in 2011. The observed increase in awareness from 2008 to 2011 remained significant (OR = 1.39) even when adjusted for sociodemographic variables, health care access, Internet use, and population density. Independent of survey year, the odds of awareness of DTC genetic tests were significantly higher for those aged 50-64 (OR = 1.64), and 65-74 (OR = 1.60); college graduates (OR = 2.02); those with a regular source of health care (OR = 1.27); those with a prior cancer diagnosis (OR = 1.24); those who use the Internet (OR = 1.27); and those living in urban areas (OR = 1.25). Surveillance of awareness-along with empirical data on use of and response to genetic risk information-can inform public health and policy efforts to maximize benefits and minimize risks of DTC genetic testing.

  15. Sensation seeking, peer deviance, and genetic influences on adolescent delinquency: Evidence for person-environment correlation and interaction.

    Science.gov (United States)

    Mann, Frank D; Patterson, Megan W; Grotzinger, Andrew D; Kretsch, Natalie; Tackett, Jennifer L; Tucker-Drob, Elliot M; Harden, K Paige

    2016-07-01

    Both sensation seeking and affiliation with deviant peer groups are risk factors for delinquency in adolescence. In this study, we use a sample of adolescent twins (n = 549), 13 to 20 years old (M age = 15.8 years), in order to test the interactive effects of peer deviance and sensation seeking on delinquency in a genetically informative design. Consistent with a socialization effect, affiliation with deviant peers was associated with higher delinquency even after controlling for selection effects using a co-twin-control comparison. At the same time, there was evidence for person-environment correlation; adolescents with genetic dispositions toward higher sensation seeking were more likely to report having deviant peer groups. Genetic influences on sensation seeking substantially overlapped with genetic influences on adolescent delinquency. Finally, the environmentally mediated effect of peer deviance on adolescent delinquency was moderated by individual differences in sensation seeking. Adolescents reporting high levels of sensation seeking were more susceptible to deviant peers, a Person × Environment interaction. These results are consistent with both selection and socialization processes in adolescent peer relationships, and they highlight the role of sensation seeking as an intermediary phenotype for genetic risk for delinquency. (PsycINFO Database Record (c) 2016 APA, all rights reserved).

  16. Neural correlates of an early attentional capture by positive distractor words

    OpenAIRE

    Hinojosa, Jos? A.; Mercado, Francisco; Albert, Jacobo; Barjola, Paloma; Pel?ez, Irene; Villalba-Garc?a, Cristina; Carreti?, Luis

    2015-01-01

    Exogenous or automatic attention to emotional distractors has been observed for emotional scenes and faces. In the language domain, however, automatic attention capture by emotional words has been scarcely investigated. In the current event-related potentials study we explored distractor effects elicited by positive, negative and neutral words in a concurrent but distinct target distractor paradigm. Specifically, participants performed a digit categorization task in which task-irrelevant words...

  17. Neural correlates of an early attentional capture by positive distractor words

    OpenAIRE

    José Antonio Hinojosa; Francisco eMercado; Jacobo eAlbert; Jacobo eAlbert; Paloma eBarjola; Irene ePeláez; Cristina eVillalba-García; Luis eCarretié

    2015-01-01

    Exogenous or automatic attention to emotional distractors has been observed for emotional scenes and faces. In the language domain, however, automatic attention capture by emotional words has been scarcely investigated. In the current event-related potentials study we explored distractor effects elicited by positive, negative and neutral words in a concurrent but distinct target distractor paradigm. Specifically, participants performed a digit categorization task in which task-irrelevant wor...

  18. Psilocybin-Induced Decrease in Amygdala Reactivity Correlates with Enhanced Positive Mood in Healthy Volunteers.

    Science.gov (United States)

    Kraehenmann, Rainer; Preller, Katrin H; Scheidegger, Milan; Pokorny, Thomas; Bosch, Oliver G; Seifritz, Erich; Vollenweider, Franz X

    2015-10-15

    The amygdala is a key structure in serotonergic emotion-processing circuits. In healthy volunteers, acute administration of the serotonin 1A/2A/2C receptor agonist psilocybin reduces neural responses to negative stimuli and induces mood changes toward positive states. However, it is little-known whether psilocybin reduces amygdala reactivity to negative stimuli and whether any change in amygdala reactivity is related to mood change. This study assessed the effects of acute administration of the hallucinogen psilocybin (.16 mg/kg) versus placebo on amygdala reactivity to negative stimuli in 25 healthy volunteers using blood oxygen level-dependent functional magnetic resonance imaging. Mood changes were assessed using the Positive and Negative Affect Schedule and the state portion of the State-Trait Anxiety Inventory. A double-blind, randomized, cross-over design was used with volunteers counterbalanced to receive psilocybin and placebo in two separate sessions at least 14 days apart. Amygdala reactivity to negative and neutral stimuli was lower after psilocybin administration than after placebo administration. The psilocybin-induced attenuation of right amygdala reactivity in response to negative stimuli was related to the psilocybin-induced increase in positive mood state. These results demonstrate that acute treatment with psilocybin decreased amygdala reactivity during emotion processing and that this was associated with an increase of positive mood in healthy volunteers. These findings may be relevant to the normalization of amygdala hyperactivity and negative mood states in patients with major depression. Copyright © 2015 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.

  19. Natural resistance to experimental feline infectious peritonitis virus infection is decreased rather than increased by positive genetic selection.

    Science.gov (United States)

    Pedersen, Niels C; Liu, Hongwei; Durden, Monica; Lyons, Leslie A

    2016-03-01

    A previous study demonstrated the existence of a natural resistance to feline infectious peritonitis virus (FIPV) among 36% of randomly bred laboratory cats. A genome wide association study (GWAS) on this population suggested that resistance was polygenic but failed to identify any strong specific associations. In order to enhance the power of GWAS or whole genome sequencing to identify strong genetic associations, a decision was made to positively select for resistance over three generations. The inbreeding experiment began with a genetically related parental (P) population consisting of three toms and four queens identified from among the survivors of the earlier study and belonging to a closely related subgroup (B). The subsequent effects of inbreeding were measured using 42 genome-wide STR markers. P generation cats produced 57 first filial (F1) kittens, only five of which (9.0%) demonstrated a natural resistance to FIPV infection. One of these five F1 survivors was then used to produce six F1/P-backcrosses kittens, only one of which proved resistant to FIP. Six of eight of the F1 and F1/P survivors succumbed to a secondary exposure 4-12 months later. Therefore, survival after both primary and secondary infection was decreased rather than increased by positive selection for resistance. The common genetic factor associated with this diminished resistance was a loss of heterozygosity. Copyright © 2016 The Authors. Published by Elsevier B.V. All rights reserved.

  20. Makeup of the genetic correlation between milk production traits using genome-wide single nucleotide polymorphism information.

    Science.gov (United States)

    van Binsbergen, R; Veerkamp, R F; Calus, M P L

    2012-04-01

    The correlated responses between traits may differ depending on the makeup of genetic covariances, and may differ from the predictions of polygenic covariances. Therefore, the objective of the present study was to investigate the makeup of the genetic covariances between the well-studied traits: milk yield, fat yield, protein yield, and their percentages in more detail. Phenotypic records of 1,737 heifers of research farms in 4 different countries were used after homogenizing and adjusting for management effects. All cows had a genotype for 37,590 single nucleotide polymorphisms (SNP). A bayesian stochastic search variable selection model was used to estimate the SNP effects for each trait. About 0.5 to 1.0% of the SNP had a significant effect on 1 or more traits; however, the SNP without a significant effect explained most of the genetic variances and covariances of the traits. Single nucleotide polymorphism correlations differed from the polygenic correlations, but only 10 regions were found with an effect on multiple traits; in 1 of these regions the DGAT1 gene was previously reported with an effect on multiple traits. This region explained up to 41% of the variances of 4 traits and explained a major part of the correlation between fat yield and fat percentage and contributes to asymmetry in correlated response between fat yield and fat percentage. Overall, for the traits in this study, the infinitesimal model is expected to be sufficient for the estimation of the variances and covariances. Copyright © 2012 American Dairy Science Association. Published by Elsevier Inc. All rights reserved.

  1. Correlation among genetic variations of c-MET in Chinese patients with non-small cell lung cancer.

    Science.gov (United States)

    Duan, Jianchun; Yang, Xiaodan; Zhao, Jun; Zhuo, Minglei; Wang, Zhijie; An, Tongtong; Bai, Hua; Wang, Jie

    2018-01-05

    The purpose of our research was to determine the correlation of amplification, protein expression and somatic mutation of c-MET in IIIb-IV stage NSCLC (Non-small cell lung cancer). We also explored correlation of c-MET variation with clinical outcome. c-MET expression was observed in 28.6% (56/196) cases, and among those 13.8% (27/196) were shown to be FISH positive. Only 2.67% patients in this study carried the c-MET mutation. Cases with c-MET FISH positive were all IHC positive ,but in IHC positive cases, only half were FISH positive. Among patients with IHC 2+ staining, 35.5% was FISH positive, while cases with IHC 3+ staining,64% was FISH positive. Both protein expression and copy number of c-MET did not significantly correlate with clinical prognosis in these patients treated with EGFR-TKIs. IHC could be used as a preliminary screening method for c-MET copy number amplification and should be confirmed by FISH only in IHC positive case which facilitate selection of ALK or MET inhibitor therapy. c-MET gene copy number, protein expression and somatic mutation for exon 14 were detected by fluorescent- In-Situ -Hybridization (FISH), Immunohistochemistry (IHC), and Denaturing-High-Performance-Liquid-Chromatography (DHPLC), respectively, in 196 NSCLC patients. The relationship between c-MET abnormalities and clinical outcome of targeted therapy was analyzed by McNemar's test.

  2. ERP correlates of letter identity and letter position are modulated by lexical frequency

    Science.gov (United States)

    Vergara-Martínez, Marta; Perea, Manuel; Gómez, Pablo; Swaab, Tamara Y.

    2013-01-01

    The encoding of letter position is a key aspect in all recently proposed models of visual-word recognition. We analyzed the impact of lexical frequency on letter position assignment by examining the temporal dynamics of lexical activation induced by pseudowords extracted from words of different frequencies. For each word (e.g., BRIDGE), we created two pseudowords: A transposed-letter (TL: BRIGDE) and a replaced-letter pseudoword (RL: BRITGE). ERPs were recorded while participants read words and pseudowords in two tasks: Semantic categorization (Experiment 1) and lexical decision (Experiment 2). For high-frequency stimuli, similar ERPs were obtained for words and TL-pseudowords, but the N400 component to words was reduced relative to RL-pseudowords, indicating less lexical/semantic activation. In contrast, TL- and RL-pseudowords created from low-frequency stimuli elicited similar ERPs. Behavioral responses in the lexical decision task paralleled this asymmetry. The present findings impose constraints on computational and neural models of visual-word recognition. PMID:23454070

  3. Comparison of the clinical and cognitive features of genetically positive ALS patients from the largest tertiary center in Serbia.

    Science.gov (United States)

    Marjanović, Ivan V; Selak-Djokić, Biljana; Perić, Stojan; Janković, Milena; Arsenijević, Vladimir; Basta, Ivana; Lavrnić, Dragana; Stefanova, Elka; Stević, Zorica

    2017-06-01

    Discovering novel mutations in C9orf72, FUS, ANG, and TDP-43 genes in ALS patients arises necessities for better clinical characterizations of these subjects. The aim is to determine clinical and cognitive profile of genetically positive Serbian ALS patients. 241 ALS patients were included in the study (17 familiar and 224 apparently sporadic). The following genes were analyzed: SOD1, C9orf72, ANG, FUS, and TDP-43. An extensive battery of classic neuropsychological tests was used in 27 ALS patients (22 SOD1 positive and 5 SOD1 negative) and 82 healthy controls (HCs). Overall 37 (15.4%) of 241 ALS patients carried mutations in tested genes-among 17 familiar ALS patients 16 (94.1%) were positive and among 224 apparently sporadic 21 (9.4%) had causative mutation. Mutations in SOD1 gene were the most common, representing 27 (73.0%) of all genetically positive ALS patients. The main clinical characteristics of SOD1 positive patients were: spinal onset in lower extremities, common sphincter and sensitive disturbances, and dysexecutive syndrome. Within SOD1 positive patients, we noticed somewhat earlier onset in patients with A145G, sensory and sphincter disturbances were dominant in patients with L144F, while D90A patients had significant sensory involvement. SOD1 negative group consisted of ten (27.0%) patients (six C9orf72, two ANG, one TDP-43, and one patient baring triple FUS, C9orf72 expansion, and ANG variants). Bulbar involvement and more extensive neuropsychological impairment (including executive, visuospatial, and memory difficulties) were the main features of SOD1 negative cohort. Our results suggest that meaningful clinical suspicion of certain ALS genotype might be made based on thorough clinical evaluation of patients.

  4. Prospective Assessment of Optimal Individual Position (Prone Versus Supine) for Breast Radiotherapy: Volumetric and Dosimetric Correlations in 100 Patients

    International Nuclear Information System (INIS)

    Lymberis, Stella C.; Wyngaert, John Keith de; Parhar, Preeti; Chhabra, Arpit M.; Fenton-Kerimian, Maria; Chang Jengwha; Hochman, Tsivia; Guth, Amber; Roses, Daniel; Goldberg, Judith D.; Formenti, Silvia C.

    2012-01-01

    Purpose: Damage to heart and lung from breast radiotherapy is associated with increased cardiovascular mortality and lung cancer development. We conducted a prospective study to evaluate which position is best to spare lung and heart from radiotherapy exposure. Methods and Materials: One hundred consecutive Stage 0–IIA breast cancer patients consented to participate in a research trial that required two computed tomography simulation scans for planning both supine and prone positions. The optimal position was defined as that which best covered the contoured breast and tumor bed while it minimized critical organ irradiation, as quantified by the in-field heart and lung volume. The trial was designed to plan the first 100 patients in each position to study correlations between in-field volumes of organs at risk and dose. Results: Fifty-three left and 47 right breast cancer patients were consecutively accrued to the trial. In all patients, the prone position was optimal for sparing lung volume compared to the supine setup (mean lung volume reduction was 93.5 cc for right and 103.6 cc for left breast cancer patients). In 46/53 (87%) left breast cancer patients best treated prone, in-field heart volume was reduced by a mean of 12 cc and by 1.8 cc for the other 7/53 (13%) patients best treated supine. As predicted, supine-prone differences in in-field volume and mean dose of heart and lung were highly correlated (Spearman's correlation coefficient for left breast cancer patients was 0.90 for heart and 0.94 for lung and 0.92 for right breast cancer patients for lung). Conclusions: Prone setup reduced the amount of irradiated lung in all patients and reduced the amount of heart volume irradiated in 87% of left breast cancer patients. In-field organ volume is a valid surrogate for predicting dose; the trial continued to the planned target of 400.

  5. Estimation of heritability and genetic correlation of body weight gain and growth curve parameters in Korean native chicken

    Directory of Open Access Journals (Sweden)

    Prabuddha Manjula

    2018-01-01

    Full Text Available Objective This study estimated the genetic parameters for body weight gain and growth curve parameter traits in Korean native chicken (KNC. Methods A total of 585 F1 chickens were used along with 88 of their F0 birds. Body weights were measured every 2 weeks from hatching to 20 weeks of age to measure weight gain at 2-week intervals. For each individual, a logistic growth curve model was fitted to the longitudinal growth dataset to obtain three growth curve parameters (α, asymptotic final body weight; β, inflection point; and γ, constant scale that was proportional to the overall growth rate. Genetic parameters were estimated based on the linear-mixed model using a restricted maximum likelihood method. Results Heritability estimates of body weight gain traits were low to high (0.057 to 0.458. Heritability estimates for α, β, and γ were 0.211±0.08, 0.249±0.09, and 0.095±0.06, respectively. Both genetic and phenotypic correlations between weight gain traits ranged from −0.527 to 0.993. Genetic and phenotypic correlation between the growth curve parameters and weight gain traits ranged from −0.968 to 0.987. Conclusion Based on the results of this study population, we suggest that the KNC could be used for selective breeding between 6 and 8 weeks of age to enhance the overall genetic improvement of growth traits. After validation of these results in independent studies, these findings will be useful for further optimization of breeding programs for KNC.

  6. Selection for increased desiccation resistance in Drosophila melanogaster: Additive genetic control and correlated responses for other stresses

    International Nuclear Information System (INIS)

    Hoffmann, A.A.; Parsons, P.A.

    1989-01-01

    Previously we found that Drosophila melanogaster lines selected for increased desiccation resistance have lowered metabolic rate and behavioral activity levels, and show correlated responses for resistance to starvation and a toxic ethanol level. These results were consistent with a prediction that increased resistance to many environmental stresses may be genetically correlated because of a reduction in metabolic energy expenditure. Here we present experiments on the genetic basis of the selection response and extend the study of correlated responses to other stresses. The response to selection was not sex-specific and involved X-linked and autosomal genes acting additively. Activity differences contributed little to differences in desiccation resistance between selected and control lines. Selected lines had lower metabolic rates than controls in darkness when activity was inhibited. Adults from selected lines showed increased resistance to a heat shock, 60 Co-gamma-radiation, and acute ethanol and acetic acid stress. The desiccation, ethanol and starvation resistance of isofemale lines set up from the F2s of a cross between one of the selected and one of the control lines were correlated. Selected and control lines did not differ in ether-extractable lipid content or in resistance to acetone, ether or a cold shock

  7. Genetic and Phenotypic Correlations between Performance Traits with Meat Quality and Carcass Characteristics in Commercial Crossbred Pigs

    Science.gov (United States)

    Miar, Younes; Plastow, Graham; Bruce, Heather; Moore, Stephen; Manafiazar, Ghader; Kemp, Robert; Charagu, Patrick; Huisman, Abe; van Haandel, Benny; Zhang, Chunyan; McKay, Robert; Wang, Zhiquan

    2014-01-01

    Genetic correlations between performance traits with meat quality and carcass traits were estimated on 6,408 commercial crossbred pigs with performance traits recorded in production systems with 2,100 of them having meat quality and carcass measurements. Significant fixed effects (company, sex and batch), covariates (birth weight, cold carcass weight, and age), random effects (additive, litter and maternal) were fitted in the statistical models. A series of pairwise bivariate analyses were implemented in ASREML to estimate heritability, phenotypic, and genetic correlations between performance traits (n = 9) with meat quality (n = 25) and carcass (n = 19) traits. The animals had a pedigree compromised of 9,439 animals over 15 generations. Performance traits had low-to-moderate heritabilities (±SE), ranged from 0.07±0.13 to 0.45±0.07 for weaning weight, and ultrasound backfat depth, respectively. Genetic correlations between performance and carcass traits were moderate to high. The results indicate that: (a) selection for birth weight may increase drip loss, lightness of longissimus dorsi, and gluteus medius muscles but may reduce fat depth; (b) selection for nursery weight can be valuable for increasing both quantity and quality traits; (c) selection for increased daily gain may increase the carcass weight and most of the primal cuts. These findings suggest that deterioration of pork quality may have occurred over many generations through the selection for less backfat thickness, and feed efficiency, but selection for growth had no adverse effects on pork quality. Low-to-moderate heritabilities for performance traits indicate that they could be improved using traditional selection or genomic selection. The estimated genetic parameters for performance, carcass and meat quality traits may be incorporated into the breeding programs that emphasize product quality in these Canadian swine populations. PMID:25350845

  8. Genetic correlations between brain volumes and the WAIS-III dimensions of verbal comprehension, working memory, perceptual organization, and processing speed

    DEFF Research Database (Denmark)

    Posthuma, Daniëlle; Baare, Wim F.C.; Hulshoff Pol, Hilleke E.

    2003-01-01

    We recently showed that the correlation of gray and white matter volume with full scale IQ and the Working Memory dimension are completely mediated by common genetic factors (Posthuma et al., 2002). Here we examine whether the other WAIS III dimensions (Verbal Comprehension, Perceptual Organization...... to Working Memory capacity (r = 0.27). This phenotypic correlation is completely due to a common underlying genetic factor. Processing Speed was genetically related to white matter volume (r(g) = 0.39). Perceptual Organization was both genetically (r(g) = 0.39) and environmentally (r(e) = -0.71) related...

  9. Physical properties of naked DNA influence nucleosome positioning and correlate with transcription start and termination sites in yeast

    Directory of Open Access Journals (Sweden)

    Soler-López Montserrat

    2011-10-01

    Full Text Available Abstract Background In eukaryotic organisms, DNA is packaged into chromatin structure, where most of DNA is wrapped into nucleosomes. DNA compaction and nucleosome positioning have clear functional implications, since they modulate the accessibility of genomic regions to regulatory proteins. Despite the intensive research effort focused in this area, the rules defining nucleosome positioning and the location of DNA regulatory regions still remain elusive. Results Naked (histone-free and nucleosomal DNA from yeast were digested by microccocal nuclease (MNase and sequenced genome-wide. MNase cutting preferences were determined for both naked and nucleosomal DNAs. Integration of their sequencing profiles with DNA conformational descriptors derived from atomistic molecular dynamic simulations enabled us to extract the physical properties of DNA on a genomic scale and to correlate them with chromatin structure and gene regulation. The local structure of DNA around regulatory regions was found to be unusually flexible and to display a unique pattern of nucleosome positioning. Ab initio physical descriptors derived from molecular dynamics were used to develop a computational method that accurately predicts nucleosome enriched and depleted regions. Conclusions Our experimental and computational analyses jointly demonstrate a clear correlation between sequence-dependent physical properties of naked DNA and regulatory signals in the chromatin structure. These results demonstrate that nucleosome positioning around TSS (Transcription Start Site and TTS (Transcription Termination Site (at least in yeast is strongly dependent on DNA physical properties, which can define a basal regulatory mechanism of gene expression.

  10. High serum coenzyme Q10, positively correlated with age, selenium and cholesterol in Inuit of Greenland

    DEFF Research Database (Denmark)

    Pedersen, Henning Sloth; Mortensen, S.A.; Rhode, M.

    1999-01-01

    impact. From a health survey we chose the subpopulation from the most remote area, where the traditional Greenlandic diet with high intake of sea mammals and fish predominates. The mean (SD) of S-CoQ10 in males was 1.495 (0.529) nmol/ml and 1.421 (0.629) nmol/ml in females, significantly higher (p ....001) compared to a Danish population. In a linear multiple regression model the S-CoQ10 level is significantly positively associated with age and S-selenium in males, and S-total cholesterol in females. The high level of CoQ10 in Greenlanders probably reflects diet, since no bioaccumulation takes place...

  11. Plant traits correlated with generation time directly affect inbreeding depression and mating system and indirectly genetic structure

    Directory of Open Access Journals (Sweden)

    Hardy Olivier J

    2009-07-01

    differences in stature, as proposed earlier, but rather to differences in generation time. Conclusion Plant traits correlated with generation time affect both inbreeding depression and mating system. These in turn modify genetic drift and gene flow and ultimately genetic structure.

  12. Bose-Einstein study of position-momentum correlations of charged pions in hadronic $Z^{0}$ decays

    CERN Document Server

    Abbiendi, G.; Akesson, P.F.; Alexander, G.; Anagnostou, G.; Anderson, K.J.; Asai, S.; Axen, D.; Bailey, I.; Barberio, E.; Barillari, T.; Barlow, R.J.; Batley, R.J.; Bechtle, P.; Behnke, T.; Bell, Kenneth Watson; Bell, P.J.; Bella, G.; Bellerive, A.; Benelli, G.; Bethke, S.; Biebel, O.; Boeriu, O.; Bock, P.; Boutemeur, M.; Braibant, S.; Brown, Robert M.; Burckhart, H.J.; Campana, S.; Capiluppi, P.; Carnegie, R.K.; Carter, A.A.; Carter, J.R.; Chang, C.Y.; Charlton, D.G.; Ciocca, C.; Csilling, A.; Cuffiani, M.; Dado, S.; Dallavalle, G.M.; De Roeck, A.; De Wolf, E.A.; Desch, K.; Dienes, B.; Dubbert, J.; Duchovni, E.; Duckeck, G.; Duerdoth, I.P.; Etzion, E.; Fabbri, F.; Ferrari, P.; Fiedler, F.; Fleck, I.; Ford, M.; Frey, A.; Gagnon, P.; Gary, John William; Geich-Gimbel, C.; Giacomelli, G.; Giacomelli, P.; Giunta, Marina; Goldberg, J.; Gross, E.; Grunhaus, J.; Gruwe, M.; Gupta, A.; Hajdu, C.; Hamann, M.; Hanson, G.G.; Harel, A.; Hauschild, M.; Hawkes, C.M.; Hawkings, R.; Herten, G.; Heuer, R.D.; Hill, J.C.; Horvath, D.; Igo-Kemenes, P.; Ishii, K.; Jeremie, H.; Jovanovic, P.; Junk, T.R.; Kanzaki, J.; Karlen, D.; Kawagoe, K.; Kawamoto, T.; Keeler, R.K.; Kellogg, R.G.; Kennedy, B.W.; Kluth, S.; Kobayashi, T.; Kobel, M.; Komamiya, S.; Kramer, T.; Krasznahorkay, A., Jr.; Krieger, P.; von Krogh, J.; Kuhl, T.; Kupper, M.; Lafferty, G.D.; Landsman, H.; Lanske, D.; Lellouch, D.; Lettso, J.; Levinson, L.; Lillich, J.; Lloyd, S.L.; Loebinger, F.K.; Lu, J.; Ludwig, A.; Ludwig, J.; Mader, W.; Marcellini, S.; Martin, A.J.; Mashimo, T.; Mattig, Peter; McKenna, J.; McPherson, R.A.; Meijers, F.; Menges, W.; Merritt, F.S.; Mes, H.; Meyer, N.; Michelini, A.; Mihara, S.; Mikenberg, G.; Miller, D.J.; Mohr, W.; Mori, T.; Mutter, A.; Nagai, K.; Nakamura, I.; Nanjo, H.; Neal, H.A.; O'Neale, S.W.; Oh, A.; Oreglia, M.J.; Orito, S.; Pahl, C.; Pasztor, G.; Pater, J.R.; Pilcher, J.E.; Pinfold, J.; Plane, D.E.; Pooth, O.; Przybycien, M.; Quadt, A.; Rabbertz, K.; Rembser, C.; Renkel, P.; Roney, J.M.; Rossi, A.M.; Rozen, Y.; Runge, K.; Sachs, K.; Saeki, T.; Sarkisyan, E.K.G.; Schaile, A.D.; Schaile, O.; Scharff-Hansen, P.; Schieck, J.; Schorner-Sadenius, T.; Schroder, M.; Schumacher, M.; Seuster, R.; Shears, T.G.; Shen, B.C.; Sherwood, P.; Skuja, A.; Smith, A.M.; Sobie, R.; Soldner-Rembold, S.; Spano, F.; Stahl, A.; Strom, David M.; Strohmer, R.; Tarem, S.; Tasevsky, M.; Teuscher, R.; Thomson, M.A.; Torrence, E.; Toya, D.; Trigger, I.; Trocsanyi, Z.; Tsur, E.; Turner-Watson, M.F.; Ueda, I.; Ujvari, B.; Vollmer, C.F.; Vannerem, P.; Vertesi, R.; Verzocchi, M.; Voss, H.; Vossebeld, J.; Ward, C.P.; Ward, D.R.; Watkins, P.M.; Watson, A.T.; Watson, N.K.; Wells, P.S.; Wengler, T.; Wermes, N.; Wilson, G.W.; Wilson, J.A.; Wolf, G.; Wyatt, T.R.; Yamashita, S.; Zer-Zion, D.; Zivkovic, Lidija

    2007-01-01

    A study of Bose-Einstein correlations in pairs of identically charged pions produced in e+e- annihilations at the Z0 peak has been performed for the first time assuming a non-static emitting source. The results are based on the high statistics data obtained with the OPAL detector at LEP. The correlation functions have been analyzed in intervals of the average pair transverse momentum and of the pair rapidity, in order to study possible correlations between the pion production points and their momenta (position-momentum correlations). The Yano-Koonin and the Bertsch-Pratt parameterizations have been fitted to the measured correlation functions to estimate the geometrical parameters of the source as well as the velocity of the source elements with respect to the overall centre-of-mass frame. The source rapidity is found to scale approximately with the pair rapidity, and both the longitudinal and transverse source dimensions are found to decrease for increasing average pair transverse momenta.

  13. Genetic Testing and Post-Testing Decision Making among BRCA-Positive Mutation Women: A Psychosocial Approach.

    Science.gov (United States)

    Hesse-Biber, Sharlene; An, Chen

    2016-10-01

    Through an analysis of an online survey of women who tested positive for the BRCA genetic mutation for breast cancer, this research uses a social constructionist and feminist standpoint lens to understand the decision-making process that leads BRCA-positive women to choose genetic testing. Additionally, this research examines how they socially construct and understand their risk for developing breast cancer, as well as which treatment options they undergo post-testing. BRCA-positive women re-frame their statistical medical risk for developing cancer and their post-testing treatment choices through a broad psychosocial context of engagement that also includes their social networks. Important psychosocial factors drive women's medical decisions, such as individual feelings of guilt and vulnerability, and the degree of perceived social support. Women who felt guilty and fearful that they might pass the BRCA gene to their children were more likely to undergo risk reducing surgery. Women with at least one daughter and women without children were more inclined toward the risk reducing surgery compared to those with only sons. These psychosocial factors and social network engagements serve as a "nexus of decision making" that does not, for the most part, mirror the medical assessments of statistical odds for hereditary cancer development, nor the specific treatment protocols outlined by the medical establishment.

  14. Novel base-pairing interactions at the tRNA wobble position crucial for accurate reading of the genetic code

    Science.gov (United States)

    Rozov, Alexey; Demeshkina, Natalia; Khusainov, Iskander; Westhof, Eric; Yusupov, Marat; Yusupova, Gulnara

    2016-01-01

    Posttranscriptional modifications at the wobble position of transfer RNAs play a substantial role in deciphering the degenerate genetic code on the ribosome. The number and variety of modifications suggest different mechanisms of action during messenger RNA decoding, of which only a few were described so far. Here, on the basis of several 70S ribosome complex X-ray structures, we demonstrate how Escherichia coli tRNALysUUU with hypermodified 5-methylaminomethyl-2-thiouridine (mnm5s2U) at the wobble position discriminates between cognate codons AAA and AAG, and near-cognate stop codon UAA or isoleucine codon AUA, with which it forms pyrimidine-pyrimidine mismatches. We show that mnm5s2U forms an unusual pair with guanosine at the wobble position that expands general knowledge on the degeneracy of the genetic code and specifies a powerful role of tRNA modifications in translation. Our models consolidate the translational fidelity mechanism proposed previously where the steric complementarity and shape acceptance dominate the decoding mechanism.

  15. Positive correlation between disease activity index and matrix metalloproteinases activity in a rat model of colitis.

    Science.gov (United States)

    Oliveira, Luiz Gustavo de; Cunha, André Luiz da; Duarte, Amaury Caiafa; Castañon, Maria Christina Marques Nogueira; Chebli, Júlio Maria Fonseca; Aguiar, Jair Adriano Kopke de

    2014-01-01

    Inflammatory bowel disease, including ulcerative colitis and Crohn's disease, comprising a broad spectrum of diseases those have in common chronic inflammation of the gastrointestinal tract, histological alterations and an increased activity levels of certain enzymes, such as, metalloproteinases. Evaluate a possible correlation of disease activity index with the severity of colonic mucosal damage and increased activity of metalloproteinases in a model of ulcerative colitis induced by dextran sulfate sodium. Colitis was induced by oral administration of 5% dextran sulfate sodium for seven days in this group (n=10), whereas control group (n=16) received water. Effects were analyzed daily by disease activity index. In the seventh day, animals were euthanized and hematological measurements, histological changes (hematoxylin and eosin and Alcian Blue staining), myeloperoxidase and metalloproteinase activities (MMP-2 and MMP-9) were determined. Dextran sulfate sodium group showed elevated disease activity index and reduced hematological parameters. Induction of colitis caused tissue injury with loss of mucin and increased myeloperoxidase (Pcorrelation with the degree of histopathological changes after induction of colitis, and this result may be related mainly to the increased activity of MMP-9 and mieloperoxidase.

  16. Total and Lower Extremity Lean Mass Percentage Positively Correlates With Jump Performance.

    Science.gov (United States)

    Stephenson, Mitchell L; Smith, Derek T; Heinbaugh, Erika M; Moynes, Rebecca C; Rockey, Shawn S; Thomas, Joi J; Dai, Boyi

    2015-08-01

    Strength and power have been identified as valuable components in both athletic performance and daily function. A major component of strength and power is the muscle mass, which can be assessed with dual-energy x-ray absorptiometry (DXA). The primary purpose of this study was to quantify the relationship between total body lean mass percentage (TBLM%) and lower extremity lean mass percentage (LELM%) and lower extremity force/power production during a countermovement jump (CMJ) in a general population. Researchers performed a DXA analysis on 40 younger participants aged 18-35 years, 28 middle-aged participants aged 36-55 years, and 34 older participants aged 56-75 years. Participants performed 3 CMJ on force platforms. Correlations revealed significant and strong relationships between TBLM% and LELM% compared with CMJ normalized peak vertical ground reaction force (p lean mass percentages. The findings have implications in including DXA-assessed lean mass percentage as a component for evaluating lower extremity strength and power. A paired DXA analysis and CMJ jump test may be useful for identifying neuromuscular deficits that limit performance.

  17. Does media multitasking always hurt? A positive correlation between multitasking and multisensory integration.

    Science.gov (United States)

    Lui, Kelvin F H; Wong, Alan C-N

    2012-08-01

    Heavy media multitaskers have been found to perform poorly in certain cognitive tasks involving task switching, selective attention, and working memory. An account for this is that with a breadth-biased style of cognitive control, multitaskers tend to pay attention to various information available in the environment, without sufficient focus on the information most relevant to the task at hand. This cognitive style, however, may not cause a general deficit in all kinds of tasks. We tested the hypothesis that heavy media multitaskers would perform better in a multisensory integration task than would others, due to their extensive experience in integrating information from different modalities. Sixty-three participants filled out a questionnaire about their media usage and completed a visual search task with and without synchronous tones (pip-and-pop paradigm). It was found that a higher degree of media multitasking was correlated with better multisensory integration. The fact that heavy media multitaskers are not deficient in all kinds of cognitive tasks suggests that media multitasking does not always hurt.

  18. A New Measure for Neural Compensation Is Positively Correlated With Working Memory and Gait Speed.

    Science.gov (United States)

    Ji, Lanxin; Pearlson, Godfrey D; Hawkins, Keith A; Steffens, David C; Guo, Hua; Wang, Lihong

    2018-01-01

    Neuroimaging studies suggest that older adults may compensate for declines in brain function and cognition through reorganization of neural resources. A limitation of prior research is reliance on between-group comparisons of neural activation (e.g., younger vs. older), which cannot be used to assess compensatory ability quantitatively. It is also unclear about the relationship between compensatory ability with cognitive function or how other factors such as physical exercise modulates compensatory ability. Here, we proposed a data-driven method to semi-quantitatively measure neural compensation under a challenging cognitive task, and we then explored connections between neural compensation to cognitive engagement and cognitive reserve (CR). Functional and structural magnetic resonance imaging scans were acquired for 26 healthy older adults during a face-name memory task. Spatial independent component analysis (ICA) identified visual, attentional and left executive as core networks. Results show that the smaller the volumes of the gray matter (GM) structures within core networks, the more networks were needed to conduct the task ( r = -0.408, p = 0.035). Therefore, the number of task-activated networks controlling for the GM volume within core networks was defined as a measure of neural compensatory ability. We found that compensatory ability correlated with working memory performance ( r = 0.528, p = 0.035). Among subjects with good memory task performance, those with higher CR used fewer networks than subjects with lower CR. Among poor-performance subjects, those using more networks had higher CR. Our results indicated that using a high cognitive-demanding task to measure the number of activated neural networks could be a useful and sensitive measure of neural compensation in older adults.

  19. Pelvic floor muscle strength evaluation in different body positions in nulliparous healthy women and its correlation with sexual activity

    Directory of Open Access Journals (Sweden)

    Monica Orsi Gameiro

    2013-12-01

    Full Text Available Objective The aim of this study was to assess pelvic floor muscle (PFM strength in different body positions in nulliparous healthy women and its correlation with sexual activity. Materials and Methods Fifty healthy nulliparous women with mean age of 23 years were prospectively studied. Subjective evaluation of PFM was assessed by transvaginal digital palpation (TDP of anterior and posterior areas regarding the vaginal introitus. A perineometer with inflatable vaginal probe was used to assess the PFM strength in four different positions: supine with extended lower limbs (P1; bent-knee supine (P2; sitting (P3; standing (P4. Results Physical activity, 3 times per week, was reported by 58% of volunteers. Sexual activity was observed in 80% of women and 82% of them presented orgasm. The average body mass index (BMI was 21.76 kg/m2, considered as normal according World Health Organization (WHO. We observed that 68% of volunteers were conscious about the PFM contraction. TDP showed concordance of 76% when anterior and posterior areas were compared (p = 0.00014. There was not correlation between PFM strength and orgasm in subjective evaluation. The PFM strength was significantly higher in standing position when compared with the other positions (p < 0.000. No statistical difference was observed between orgasm and PFM strength when objective evaluations were performed. Conclusions There was concordance between anterior and posterior areas in 76% of cases when subjective PFM strength was assessed. In objective evaluation, higher PFM strength was observed when volunteers were standing. No statistical correlation was observed between PFM strength and orgasm in nulliparous healthy women.

  20. Patient positioning method based on binary image correlation between two edge images for proton-beam radiation therapy

    International Nuclear Information System (INIS)

    Sawada, Akira; Yoda, Kiyoshi; Numano, Masumi; Futami, Yasuyuki; Yamashita, Haruo; Murayama, Shigeyuki; Tsugami, Hironobu

    2005-01-01

    A new technique based on normalized binary image correlation between two edge images has been proposed for positioning proton-beam radiotherapy patients. A Canny edge detector was used to extract two edge images from a reference x-ray image and a test x-ray image of a patient before positioning. While translating and rotating the edged test image, the absolute value of the normalized binary image correlation between the two edge images is iteratively maximized. Each time before rotation, dilation is applied to the edged test image to avoid a steep reduction of the image correlation. To evaluate robustness of the proposed method, a simulation has been carried out using 240 simulated edged head front-view images extracted from a reference image by varying parameters of the Canny algorithm with a given range of rotation angles and translation amounts in x and y directions. It was shown that resulting registration errors have an accuracy of one pixel in x and y directions and zero degrees in rotation, even when the number of edge pixels significantly differs between the edged reference image and the edged simulation image. Subsequently, positioning experiments using several sets of head, lung, and hip data have been performed. We have observed that the differences of translation and rotation between manual positioning and the proposed method were within one pixel in translation and one degree in rotation. From the results of the validation study, it can be concluded that a significant reduction in workload for the physicians and technicians can be achieved with this method

  1. Correlation between the genetic diversity of nosocomial pathogens and their survival time in intensive care units.

    NARCIS (Netherlands)

    Gastmeier, P; Schwab, F; Bärwolff, S; Rüden, H; Grundmann, Hajo

    2006-01-01

    Bacteria differ in their ability to survive in the hospital environment outside the human host. Species remaining viable and infectious have a higher chance of being transmitted, giving them a fitness advantage in hospitals. This differential fitness could be expected to alter the genetic population

  2. Tourette's Disorder: Genetic Update, Neurological Correlates, and Evidence-Based Interventions

    Science.gov (United States)

    Phelps, LeAdelle

    2008-01-01

    This article provides an update of the search for genetic markers related to Tourette's Disorder. The probable neurophysiology of the disorder is reviewed. Frequently prescribed medications are related to the probable biological bases of the disorder. Behavioral interventions and assessment tools are examined. It is concluded that evidence based…

  3. Genetic correlations between milk production and health and fertility dependent on herd environment

    NARCIS (Netherlands)

    Windig, J.J.; Calus, M.P.L.; Beerda, B.; Veerkamp, R.F.

    2006-01-01

    High milk production in dairy cattle can have negative side effects on health and fertility traits. This paper explores the genetic relationship of milk yield with health and fertility depending on herd environment. A total of 71,720 lactations from heifers calving in 1997 to 1999 in the Netherlands

  4. Correlations among Jamaican 12th-Graders' Five Variables and Performance in Genetics

    Science.gov (United States)

    Bloomfield, Deen-Paul; Soyibo, Kola

    2008-01-01

    This study was aimed at finding out if the level of performance of selected Jamaican Grade 12 students on an achievement test on the concept of genetics was satisfactory; if there were statistically significant differences in their performance on the concept linked to their gender, self-esteem, cognitive abilities in biology, school-type and…

  5. Intraspecific chemical diversity among neighbouring plants correlates positively with plant size and herbivore load but negatively with herbivore damage.

    Science.gov (United States)

    Bustos-Segura, Carlos; Poelman, Erik H; Reichelt, Michael; Gershenzon, Jonathan; Gols, Rieta

    2017-01-01

    Intraspecific plant diversity can modify the properties of associated arthropod communities and plant fitness. However, it is not well understood which plant traits determine these ecological effects. We explored the effect of intraspecific chemical diversity among neighbouring plants on the associated invertebrate community and plant traits. In a common garden experiment, intraspecific diversity among neighbouring plants was manipulated using three plant populations of wild cabbage that differ in foliar glucosinolates. Plants were larger, harboured more herbivores, but were less damaged when plant diversity was increased. Glucosinolate concentration differentially correlated with generalist and specialist herbivore abundance. Glucosinolate composition correlated with plant damage, while in polycultures, variation in glucosinolate concentrations among neighbouring plants correlated positively with herbivore diversity and negatively with plant damage levels. The results suggest that intraspecific variation in secondary chemistry among neighbouring plants is important in determining the structure of the associated insect community and positively affects plant performance. © 2016 The Authors. Ecology Letters published by CNRS and John Wiley & Sons Ltd.

  6. Life extension and the position of the hormetic zone depends on sex and genetic background in Drosophila melanogaster.

    Science.gov (United States)

    Sarup, Pernille; Loeschcke, Volker

    2011-04-01

    Hormesis, the beneficial effect of a mild stress, has been proposed as a means to prolong the period of healthy ageing as it can increase the average lifespan of a cohort. However, if we want to use hormesis therapeutically it is important that the treatment is beneficial on the individual level and not just on average at the population level. Long lived lines have been shown not to benefit from a, in other lines, hormesis inducing heat treatment in Drosophila melanogaster, D. buzzatii and mice. Also in many experiments hormesis has been reported to occur in one sex only, usually males but not in females. Here we investigated the interaction between the hormetic response and genetic background, sex and duration of a mild heat stress in D. melanogaster, using three replicate lines that have been selected for increased longevity and their respective control lines. We found that genetic background influences the position of the hormetic zone. The implication of this result could be that in a genetically diverse populations a treatment that is life prolonging in one individual could be life shortening in other individuals. However, we did find a hormetic response in all combinations of line and sex in at least one of the experiments which suggests that if it is possible to identify the optimal hormetic dose individually hormesis might become a therapeutic treatment.

  7. Genetic signature of strong recent positive selection at interleukin-32 gene in goat

    Directory of Open Access Journals (Sweden)

    Akhtar Rasool Asif

    2017-07-01

    Full Text Available Objective Identification of the candidate genes that play key roles in phenotypic variations can provide new information about evolution and positive selection. Interleukin (IL-32 is involved in many biological processes, however, its role for the immune response against various diseases in mammals is poorly understood. Therefore, the current investigation was performed for the better understanding of the molecular evolution and the positive selection of single nucleotide polymorphisms in IL-32 gene. Methods By using fixation index (FST based method, IL-32 (9375 gene was found to be outlier and under significant positive selection with the provisional combined allocation of mean heterozygosity and FST. Using nucleotide sequences of 11 mammalian species from National Center for Biotechnology Information database, the evolutionary selection of IL-32 gene was determined using Maximum likelihood model method, through four models (M1a, M2a, M7, and M8 in Codeml program of phylogenetic analysis by maximum liklihood. Results IL-32 is detected under positive selection using the FST simulations method. The phylogenetic tree revealed that goat IL-32 was in close resemblance with sheep IL-32. The coding nucleotide sequences were compared among 11 species and it was found that the goat IL-32 gene shared identity with sheep (96.54%, bison (91.97%, camel (58.39%, cat (56.59%, buffalo (56.50%, human (56.13%, dog (50.97%, horse (54.04%, and rabbit (53.41% respectively. Conclusion This study provides evidence for IL-32 gene as under significant positive selection in goat.

  8. Genotype-phenotype correlations in a mountain population community with high prevalence of Wilson's disease: genetic and clinical homogeneity.

    Directory of Open Access Journals (Sweden)

    Relu Cocoş

    Full Text Available Wilson's disease is an autosomal recessive disorder caused by more than 500 mutations in ATP7B gene presenting considerably clinical manifestations heterogeneity even in patients with a particular mutation. Previous findings suggested a potential role of additional genetic modifiers and environment factors on phenotypic expression among the affected patients. We conducted clinical and genetic investigations to perform genotype-phenotype correlation in two large families living in a socio-culturally isolated community with the highest prevalence of Wilson's disease ever reported of 1 ∶ 1130. Sequencing of ATP7B gene in seven affected individuals and 43 family members identified a common compound heterozygous genotype, H1069Q/M769H-fs, in five symptomatic and two asymptomatic patients and detected the presence of two out of seven identified single nucleotide polymorphisms in all affected patients. Symptomatic patients had similar clinical phenotype and age at onset (18 ± 1 years showing dysarthria and dysphagia as common clinical features at the time of diagnosis. Moreover, all symptomatic patients presented Kayser-Fleischer rings and lack of dystonia accompanied by unfavourable clinical outcomes. Our findings add value for understanding of genotype-phenotype correlations in Wilson's disease based on a multifamily study in an isolated population with high extent of genetic and environmental homogeneity as opposed to majority of reports. We observed an equal influence of presumed other genetic modifiers and environmental factors on clinical presentation and age at onset of Wilson's disease in patients with a particular genotype. These data provide valuable inferences that could be applied for predicting clinical management in asymptomatic patients in such communities.

  9. Genetic parameters of methane emissions determined using portable accumulation chambers in lambs and ewes grazing pasture and genetic correlations with emissions determined in respiration chambers.

    Science.gov (United States)

    Jonker, A; Hickey, S M; Rowe, S J; Janssen, P H; Shackell, G; Elmes, S; Bain, W E; Wing, J; Greer, G J; Bryson, B; MacLean, S; Dodds, K G; Pinares-Patiño, C S; Young, E A; Knowler, K; Pickering, N K; McEwan, J C

    2018-05-07

    Methane (CH4) emission traits were previously found to be heritable and repeatable in sheep fed alfalfa pellets in respiration chambers (RC). More rapid screening methods are, however, required to increase genetic progress and to provide a cost effective method to the farming industry for maintaining the generation of breeding values in the future. The objective of the current study was to determine CH4 and carbon dioxide (CO2) emissions using several one-hour portable accumulation chamber (PAC) measurements from lambs and again as ewes, while grazing ryegrass based pasture. Many animals with PAC measurements were also measured in RC while fed alfalfa pellets at 2.0 × maintenance metabolizable energy requirements (MEm). Heritability estimates from mixed models for CH4 and CO2 production (g/d) were 0.19 and 0.16, respectively, when measured using PAC with lambs; 0.20 and 0.27, respectively, when measured using PAC with ewes; and 0.23 and 0.34, respectively, when measured using RC with lambs. For measured gas traits, repeatabilities of measurements collected 14 days apart ranged from 0.33 to 0.55 for PAC (combined lambs and ewes) and were greater at 0.65 to 0.76 for the same traits measured using RC. Genetic correlations (rg) between PAC in lambs and ewes were 0.99 for CH4, 0.93 for CH4+CO2 and 0.85 for CH4/(CH4+CO2), suggesting CH4 emissions in lambs and ewes are the same trait. Genetic correlations between PAC and RC measurements were lower, at 0.62 to 0.67 for CH4 and 0.41 to 0.42 for CH4+CO2, likely reflecting different environmental conditions associated with the protocols used with the two measurement methods. The CH4/(CH4+CO2) ratio was the most similar genetic trait measured using PAC (both lambs and ewes, 63 and 66% selection efficiency, respectively) compared with CH4 yield (g/kg DMI) measured using RC. These results suggest that PAC measurements have considerable value as a rapid low cost method to estimate breeding values for CH4 emissions in sheep.

  10. Urinary oxytocin positively correlates with performance in facial visual search in unmarried males, without specific reaction to infant face.

    Science.gov (United States)

    Saito, Atsuko; Hamada, Hiroki; Kikusui, Takefumi; Mogi, Kazutaka; Nagasawa, Miho; Mitsui, Shohei; Higuchi, Takashi; Hasegawa, Toshikazu; Hiraki, Kazuo

    2014-01-01

    The neuropeptide oxytocin plays a central role in prosocial and parental behavior in non-human mammals as well as humans. It has been suggested that oxytocin may affect visual processing of infant faces and emotional reaction to infants. Healthy male volunteers (N = 13) were tested for their ability to detect infant or adult faces among adult or infant faces (facial visual search task). Urine samples were collected from all participants before the study to measure the concentration of oxytocin. Urinary oxytocin positively correlated with performance in the facial visual search task. However, task performance and its correlation with oxytocin concentration did not differ between infant faces and adult faces. Our data suggests that endogenous oxytocin is related to facial visual cognition, but does not promote infant-specific responses in unmarried men who are not fathers.

  11. Urinary oxytocin positively correlates with performance in facial visual search in unmarried males, without specific reaction to infant face

    Directory of Open Access Journals (Sweden)

    Atsuko eSaito

    2014-07-01

    Full Text Available The neuropeptide oxytocin plays a central role in prosocial and parental behavior in non-human mammals as well as humans. It has been suggested that oxytocin may affect visual processing of infant faces and emotional reaction to infants. Healthy male volunteers (N = 13 were tested for their ability to detect infant or adult faces among adult or infant faces (facial visual search task. Urine samples were collected from all participants before the study to measure the concentration of oxytocin. Urinary oxytocin positively correlated with performance in the facial visual search task. However, task performance and its correlation with oxytocin concentration did not differ between infant faces and adult faces. Our data suggests that endogenous oxytocin is related to facial visual cognition, but does not promote infant-specific responses in unmarried men who are not fathers.

  12. Correlations between genet architecture and some life history features in three species of Solidago.

    Science.gov (United States)

    Schmid, B; Puttick, G M; Burgess, K H; Bazzaz, F A

    1988-04-01

    Members of the genus Solidago are among the most widely studied model systems in plant population biology. A comparative study of Solidago canadensis, S. altissima, and S. gigantea in an experimental garden showed that the three species had different patterns of shoot growth and development, leaf morphology and physiology, and biomass allocation at harvest. These differences were also found in the field. Contrary to some current taxonomic usage, our results show that S. canadensis should ecologically be treated as a separate taxon distinct from S. altissima, and that the latter may be grouped together with S. gigantea. Many of the biological differences between S. canadensis and the other two taxa, such as differential investment into sexual reproduction versus clonal growth, may be explained by differences in genet architecture. These architectures concern high compared to lower within-genet shoot density resulting from differences in rhizome lengths among the taxa (shorter in S. canadensis than in S. altissima and S. gigantea).

  13. The chemotaxonomic classification of Rhodiola plants and its correlation with morphological characteristics and genetic taxonomy.

    Science.gov (United States)

    Liu, Zhenli; Liu, Yuanyan; Liu, Chunsheng; Song, Zhiqian; Li, Qing; Zha, Qinglin; Lu, Cheng; Wang, Chun; Ning, Zhangchi; Zhang, Yuxin; Tian, Cheng; Lu, Aiping

    2013-07-12

    Rhodiola plants are used as a natural remedy in the western world and as a traditional herbal medicine in China, and are valued for their ability to enhance human resistance to stress or fatigue and to promote longevity. Due to the morphological similarities among different species, the identification of the genus remains somewhat controversial, which may affect their safety and effectiveness in clinical use. In this paper, 47 Rhodiola samples of seven species were collected from thirteen local provinces of China. They were identified by their morphological characteristics and genetic and phytochemical taxonomies. Eight bioactive chemotaxonomic markers from four chemical classes (phenylpropanoids, phenylethanol derivatives, flavonoids and phenolic acids) were determined to evaluate and distinguish the chemotaxonomy of Rhodiola samples using an HPLC-DAD/UV method. Hierarchical cluster analysis (HCA) and principal component analysis (PCA) were applied to compare the two classification methods between genetic and phytochemical taxonomy. The established chemotaxonomic classification could be effectively used for Rhodiola species identification.

  14. A correlation study on position and volume variation of primary lung cancer during respiration by four-dimensional CT

    International Nuclear Information System (INIS)

    Zhang Yingjie; Li Jianbin; Tian Shiyu; Li Fengxiang; Fan Tingyong; Shao Qian; Xu Min; Lu Jie

    2011-01-01

    Objective: To investigate the correlation of position movement of primary tumor with interested organs and skin markers, and to investigate the correlation of volume variation of primary tumors and lungs during different respiration phases for patients with lung cancer at free breath condition scanned by four-dimensional CT (4DCT) simulation. Methods: 16 patients with lung cancer were scanned at free breath condition by simulation 4DCT which connected to a respiration-monitoring system. A coordinate system was created based on image of T 5 phase,gross tumor volume (GTV) and normal tissue structures of 10 phases were contoured. The three dimensional position variation of them were measured and their correlation were analyzed, and the same for the volume variation of GTV and lungs of 10 respiratory phases. Results: Movement range of lung cancer in different lobe differed extinct: 0.8 - 5.0 mm in upper lobe, 5.7 -5.9 mm in middle lobe and 10.2 - 13.7 mm in lower lobe, respectively. Movement range of lung cancer in three dimensional direction was different: z-axis 4.3 mm ± 4.3 mm > y-axis 2.2 mm ± 1.0 mm > x-axis 1.7 mm ± 1.5 mm (χ 2 =16.22, P =0.000), respectively. There was no statistical significant correlation for movement vector of GTV and interested structures (r =-0.50 - -0.01, P =0.058 - -0.961), nor for volume variation of tumor and lung (r =0.23, P =0.520). Conclusions: Based on 4DCT, statistically significant differences of GTV centroid movement are observed at different pulmonary lobes and in three dimensional directions. So individual 4DCT measurement is necessary for definition of internal target volume margin for lung cancer. (authors)

  15. K-mer Content, Correlation, and Position Analysis of Genome DNA Sequences for the Identification of Function and Evolutionary Features

    Directory of Open Access Journals (Sweden)

    Aaron Sievers

    2017-04-01

    Full Text Available In genome analysis, k-mer-based comparison methods have become standard tools. However, even though they are able to deliver reliable results, other algorithms seem to work better in some cases. To improve k-mer-based DNA sequence analysis and comparison, we successfully checked whether adding positional resolution is beneficial for finding and/or comparing interesting organizational structures. A simple but efficient algorithm for extracting and saving local k-mer spectra (frequency distribution of k-mers was developed and used. The results were analyzed by including positional information based on visualizations as genomic maps and by applying basic vector correlation methods. This analysis was concentrated on small word lengths (1 ≤ k ≤ 4 on relatively small viral genomes of Papillomaviridae and Herpesviridae, while also checking its usability for larger sequences, namely human chromosome 2 and the homologous chromosomes (2A, 2B of a chimpanzee. Using this alignment-free analysis, several regions with specific characteristics in Papillomaviridae and Herpesviridae formerly identified by independent, mostly alignment-based methods, were confirmed. Correlations between the k-mer content and several genes in these genomes have been found, showing similarities between classified and unclassified viruses, which may be potentially useful for further taxonomic research. Furthermore, unknown k-mer correlations in the genomes of Human Herpesviruses (HHVs, which are probably of major biological function, are found and described. Using the chromosomes of a chimpanzee and human that are currently known, identities between the species on every analyzed chromosome were reproduced. This demonstrates the feasibility of our approach for large data sets of complex genomes. Based on these results, we suggest k-mer analysis with positional resolution as a method for closing a gap between the effectiveness of alignment-based methods (like NCBI BLAST and the

  16. Genetic & virulence profiling of ESBL-positive E. coli from nosocomial & veterinary sources.

    Science.gov (United States)

    Tyrrell, J M; Wootton, M; Toleman, M A; Howe, R A; Woodward, M; Walsh, T R

    2016-04-15

    CTX-M genes are the most prevalent ESBL globally, infiltrating nosocomial, community and environmental settings. Wild and domesticated animals may act as effective vectors for the dissemination of CTX-producing Enterobacteriaceae. This study aimed to contextualise blaCTX-M-14-positive, cephalosporin-resistant Enterobacteriaceae human infections and compared resistance and pathogenicity markers with veterinary isolates. Epidemiologically related human (n=18) and veterinary (n=4) blaCTX-M-14-positive E. coli were fully characterised. All were typed by XbaI pulsed field gel electrophoresis and ST. Chromosomal/plasmidic locations of blaCTX-M-14 were deduced by S1-nuclease digestion, and association with ISEcp1 was investigated by sequencing. Conjugation experiments assessed transmissibility of plasmids carrying blaCTX-M-14. Presence of virulence determinants was screened by PCR assay and pathogenicity potential was determined by in vitro Galleria mellonella infection models. 84% of clinical E. coli originated from community patients. blaCTX-M-14 was found ubiquitously downstream of ISEcp1 upon conjugative plasmids (25-150 kb). blaCTX-M-14 was also found upon the chromosome of eight E. coli isolates. CTX-M-14-producing E. coli were found at multiple hospital sites. Clonal commonality between patient, hospitals and livestock microbial populations was found. In vivo model survival rates from clinical isolates (30%) and veterinary isolates (0%) were significantly different (pE. coli involving community patients and farm livestock. blaCTX-M-14 positive human clinical isolates carry a lower intrinsic pathogenic potential than veterinary E. coli highlighting the need for greater veterinary practices in preventing dissemination of MDR E. coli among livestock. Copyright © 2016. Published by Elsevier B.V.

  17. PANTHER-PSEP: predicting disease-causing genetic variants using position-specific evolutionary preservation.

    Science.gov (United States)

    Tang, Haiming; Thomas, Paul D

    2016-07-15

    PANTHER-PSEP is a new software tool for predicting non-synonymous genetic variants that may play a causal role in human disease. Several previous variant pathogenicity prediction methods have been proposed that quantify evolutionary conservation among homologous proteins from different organisms. PANTHER-PSEP employs a related but distinct metric based on 'evolutionary preservation': homologous proteins are used to reconstruct the likely sequences of ancestral proteins at nodes in a phylogenetic tree, and the history of each amino acid can be traced back in time from its current state to estimate how long that state has been preserved in its ancestors. Here, we describe the PSEP tool, and assess its performance on standard benchmarks for distinguishing disease-associated from neutral variation in humans. On these benchmarks, PSEP outperforms not only previous tools that utilize evolutionary conservation, but also several highly used tools that include multiple other sources of information as well. For predicting pathogenic human variants, the trace back of course starts with a human 'reference' protein sequence, but the PSEP tool can also be applied to predicting deleterious or pathogenic variants in reference proteins from any of the ∼100 other species in the PANTHER database. PANTHER-PSEP is freely available on the web at http://pantherdb.org/tools/csnpScoreForm.jsp Users can also download the command-line based tool at ftp://ftp.pantherdb.org/cSNP_analysis/PSEP/ CONTACT: pdthomas@usc.edu Supplementary data are available at Bioinformatics online. © The Author 2016. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

  18. In vivo tracking of genetically engineered, anti-HER2/neu directed natural killer cells to HER2/neu positive mammary tumors with magnetic resonance imaging

    International Nuclear Information System (INIS)

    Daldrup-Link, Heike E.; Meier, Reinhardt; Metz, Stephan; Settles, Marcus; Rummeny, Ernst J.; Rudelius, Martina; Piontek, Guido; Schlegel, Juergen; Piert, Morand; Uherek, Christoph; Wels, Winfried

    2005-01-01

    The purpose of this study is to optimize labeling of the human natural killer (NK) cell line NK-92 with iron-oxide-based contrast agents and to monitor the in vivo distribution of genetically engineered NK-92 cells, which are directed against HER2/neu receptors, to HER2/neu positive mammary tumors with magnetic resonance (MR) imaging. Parental NK-92 cells and genetically modified HER2/neu specific NK-92-scFv(FRP5)-zeta cells, expressing a chimeric antigen receptor specific to the tumor-associated ErbB2 (HER2/neu) antigen, were labeled with ferumoxides and ferucarbotran using simple incubation, lipofection and electroporation techniques. Labeling efficiency was evaluated by MR imaging, Prussian blue stains and spectrometry. Subsequently, ferucarbotran-labeled NK-92-scFv(FRP5)-zeta (n=3) or parental NK-92 cells were intravenously injected into the tail vein of six mice with HER2/neu-positive NIH 3T3 mammary tumors, implanted in the mammary fat pad. The accumulation of the cells in the tumors was monitored by MR imaging before and 12 and 24 h after cell injection (p.i.). MR data were correlated with histopathology. Both the parental NK-92 and the genetically modified NK-92-scFv(FRP5)-zeta cells could be labeled with ferucarbotran and ferumoxides by lipofection and electroporation, but not by simple incubation. The intracellular cytoplasmatic iron-oxide uptake was significantly higher after labeling with ferucarbotran than ferumoxides (P 6 NK-92-scFv(FRP5)-zeta cells into tumor-bearing mice, MR showed a progressive signal decline in HER2/neu-positive mammary tumors at 12 and 24 h (p.i.). Conversely, injection of 5 x 10 6 parental NK-92 control cells, not directed against HER2/neu receptors, did not cause significant signal intensity changes of the tumors. Histopathology confirmed an accumulation of the former, but not the latter cells in tumor tissue. The human natural killer cell line NK-92 can be efficiently labeled with clinically applicable iron-oxide contrast

  19. In vivo tracking of genetically engineered, anti-HER2/neu directed natural killer cells to HER2/neu positive mammary tumors with magnetic resonance imaging

    Energy Technology Data Exchange (ETDEWEB)

    Daldrup-Link, Heike E. [UCSF Medical Center, Department of Radiology, San Francisco, CA (United States); Meier, Reinhardt; Metz, Stephan; Settles, Marcus; Rummeny, Ernst J. [Technical University Munich, Department of Radiology, Munich (Germany); Rudelius, Martina; Piontek, Guido; Schlegel, Juergen [Technical University Munich, Institute of Pathology, Division of Neuropathology, Munich (Germany); Piert, Morand [Technical University Munich, Department of Nuclear Medicine, Munich (Germany); Uherek, Christoph; Wels, Winfried [University of Frankfurt, Georg Speyer House, Frankfurt (Germany)

    2005-01-01

    The purpose of this study is to optimize labeling of the human natural killer (NK) cell line NK-92 with iron-oxide-based contrast agents and to monitor the in vivo distribution of genetically engineered NK-92 cells, which are directed against HER2/neu receptors, to HER2/neu positive mammary tumors with magnetic resonance (MR) imaging. Parental NK-92 cells and genetically modified HER2/neu specific NK-92-scFv(FRP5)-zeta cells, expressing a chimeric antigen receptor specific to the tumor-associated ErbB2 (HER2/neu) antigen, were labeled with ferumoxides and ferucarbotran using simple incubation, lipofection and electroporation techniques. Labeling efficiency was evaluated by MR imaging, Prussian blue stains and spectrometry. Subsequently, ferucarbotran-labeled NK-92-scFv(FRP5)-zeta (n=3) or parental NK-92 cells were intravenously injected into the tail vein of six mice with HER2/neu-positive NIH 3T3 mammary tumors, implanted in the mammary fat pad. The accumulation of the cells in the tumors was monitored by MR imaging before and 12 and 24 h after cell injection (p.i.). MR data were correlated with histopathology. Both the parental NK-92 and the genetically modified NK-92-scFv(FRP5)-zeta cells could be labeled with ferucarbotran and ferumoxides by lipofection and electroporation, but not by simple incubation. The intracellular cytoplasmatic iron-oxide uptake was significantly higher after labeling with ferucarbotran than ferumoxides (P<0.05). After intravenous injection of 5 x 10{sup 6} NK-92-scFv(FRP5)-zeta cells into tumor-bearing mice, MR showed a progressive signal decline in HER2/neu-positive mammary tumors at 12 and 24 h (p.i.). Conversely, injection of 5 x 10{sup 6} parental NK-92 control cells, not directed against HER2/neu receptors, did not cause significant signal intensity changes of the tumors. Histopathology confirmed an accumulation of the former, but not the latter cells in tumor tissue. The human natural killer cell line NK-92 can be efficiently

  20. Genetic polymorphisms associated with fatty liver disease and fibrosis in HIV positive patients receiving combined antiretroviral therapy (cART)

    Science.gov (United States)

    Luda, Carolin; Schwarze-Zander, Carolynne; Boesecke, Christoph; Hansel, Cordula; Nischalke, Hans-Dieter; Lutz, Philipp; Mohr, Raphael; Wasmuth, Jan-Christian; Strassburg, Christian P.; Trebicka, Jonel; Rockstroh, Jürgen Kurt; Spengler, Ulrich

    2017-01-01

    Hepatic steatosis can occur with any antiretroviral therapy (cART). Although single nucleotide polymorphisms (SNPs) have been identified to predispose to alcoholic and non-alcoholic fatty liver disease, their role for treatment-associated steatosis in HIV-positive patients remains unclear. We determined the frequency of PNPLA3 (rs738409), CSPG3/NCAN (rs2228603), GCKR (rs780094), PPP1R3B (rs4240624), TM6SF (rs8542926), LYPLAL1 (rs12137855) and MBOAT7 (rs626283) by RT-PCR in 117 HIV-positive patients on cART and stratified participants based on their “controlled attenuation parameter” (CAP) into probable (CAP: 215–300 dB/m) and definite (CAP >300 dB/m) hepatic steatosis. We analyzed CAP values and routine metabolic parameters according to the allele frequencies. Sixty-five (55.6%) and 13 (11.1%) patients were allocated to probable and definite steatosis. CAP values (p = 0.012) and serum triglycerides (p = 0.043) were increased in carriers of the GCKR (rs780094) A allele. Cox logistic regression identified triglycerides (p = 0.006), bilirubin (p = 0.021) and BMI (p = 0.068), but not the genetic parameters as risk factors for the occurrence of hepatic steatosis. Taken together, according to the limited sample size, this exploratory study generates the hypothesis that genetic polymorphisms seem to exert minor effects on the risk for fatty liver disease in HIV-positive patients on cART. Nevertheless, SNPs may modify metabolic complications once metabolic abnormalities have developed. Hence, subsequent analysis of a larger cohort is needed. PMID:28594920

  1. Molecular genetics of pancreatic neoplasms and their morphologic correlates: an update on recent advances and potential diagnostic applications.

    Science.gov (United States)

    Reid, Michelle D; Saka, Burcu; Balci, Serdar; Goldblum, Andrew S; Adsay, N Volkan

    2014-02-01

    To summarize the most clinically and biologically relevant advances in molecular/genetic characteristics of various pancreatic neoplasms, with morphologic correlation. Whole-exome sequencing of numerous benign and malignant pancreatic tumors, along with the plethora of highly sensitive molecular studies now available for analyzing these tumors, provide mounting evidence to support the long-held belief that cancer is essentially a genetic disease. These genetic discoveries have not only helped to confirm the age-old, morphology-based classifications of pancreatic neoplasia but have shed new light on their mechanisms. Many of these molecular discoveries are currently being used in preoperative diagnosis. Mutations in KRAS, P16/CDKN2A, TP53, and SMAD4/DPC4 are commonly seen in ductal neoplasia but not in nonductal tumors; ductal adenocarcinomas with SMAD4/DPC4 loss are associated with widespread metastasis and poor prognosis. GNAS and RNF43 mutations have been discovered in most intraductal pancreatic mucinous neoplasms, providing critical molecular fingerprints for their diagnosis. Mutation in DAXX/ATRX is only seen in pancreatic neuroendocrine tumors, making it a useful potential marker in distinguishing these tumors from mimics. When combined with morphologic observations, molecular studies will increase our understanding of the pathogenesis and morphomolecular signatures associated with specific neoplasms and provide new horizons for precision medicine and targeted therapies.

  2. Genetics

    International Nuclear Information System (INIS)

    Hubitschek, H.E.

    1975-01-01

    Progress is reported on the following research projects: genetic effects of high LET radiations; genetic regulation, alteration, and repair; chromosome replication and the division cycle of Escherichia coli; effects of radioisotope decay in the DNA of microorganisms; initiation and termination of DNA replication in Bacillus subtilis; mutagenesis in mouse myeloma cells; lethal and mutagenic effects of near-uv radiation; effect of 8-methoxypsoralen on photodynamic lethality and mutagenicity in Escherichia coli; DNA repair of the lethal effects of far-uv; and near uv irradiation of bacterial cells

  3. Expression of integrin α3β1 and cyclooxygenase-2 (COX2) are positively correlated in human breast cancer

    International Nuclear Information System (INIS)

    Aggarwal, Anshu; Al-Rohil, Rami N; Batra, Anupam; Feustel, Paul J; Jones, David M; DiPersio, C Michael

    2014-01-01

    Expression of integrin α3β1 is associated with tumor progression, metastasis, and poor prognosis in several cancers, including breast cancer. Moreover, preclinical studies have revealed important pro-tumorigenic and pro-metastatic functions for this integrin, including tumor growth, survival, invasion, and paracrine induction of angiogenesis. Our previously published work in a preclinical breast cancer model showed that integrin α3β1 promotes expression of cyclooxygenase-2 (COX2/PTGS2), a known driver of breast cancer progression. However, the clinical significance of this regulation was unknown. The objective of the current study was to assess the clinical relevance of the relationship between integrin α3β1 and COX2 by testing for their correlated expression among various forms of human breast cancer. Immunohistochemistry was performed to assess co-expression of α3 and COX2 in specimens of human invasive ductal carcinoma (IDC), either on a commercial tissue microarray (n = 59 samples) or obtained from Albany Medical Center archives (n = 68 samples). Immunostaining intensity for the integrin α3 subunit or COX2 was scored, and Spearman’s rank correlation coefficient analysis was performed to assess their co-expression across and within different tumor subtypes or clinicopathologic criteria. Although expression of integrin α3 or COX2 varied among clinical IDC samples, a statistically significant, positive correlation was detected between α3 and COX2 in both tissue microarrays (r s = 0.49, p < 0.001, n = 59) and archived samples (r s = 0.59, p < 0.0001, n = 68). In both sample sets, this correlation was independent of hormone receptor status, histological grade, or disease stage. COX2 and α3 are correlated in IDC independently of hormone receptor status or other clinicopathologic features, supporting the hypothesis that integrin α3β1 is a determinant of COX2 expression in human breast cancer. These results support the clinical relevance of α3β1

  4. ZResponse to selection, heritability and genetic correlations between body weight and body size in Pacific white shrimp, Litopenaeus vannamei

    Science.gov (United States)

    Andriantahina, Farafidy; Liu, Xiaolin; Huang, Hao; Xiang, Jianhai

    2012-03-01

    To quantify the response to selection, heritability and genetic correlations between weight and size of Litopenaeus vannamei, the body weight (BW), total length (TL), body length (BL), first abdominal segment depth (FASD), third abdominal segment depth (TASD), first abdominal segment width (FASW), and partial carapace length (PCL) of 5-month-old parents and of offspnng were measured by calculating seven body measunngs of offspnng produced by a nested mating design. Seventeen half-sib families and 42 full-sib families of L. vannamei were produced using artificial fertilization from 2-4 dams by each sire, and measured at around five months post-metamorphosis. The results show that hentabilities among vanous traits were high: 0.515±0.030 for body weight and 0.394±0.030 for total length. After one generation of selection. the selection response was 10.70% for offspring growth. In the 5th month, the realized heritability for weight was 0.296 for the offspnng generation. Genetic correlations between body weight and body size were highly variable. The results indicate that external morphological parameters can be applied dunng breeder selection for enhancing the growth without sacrificing animals for determining the body size and breed ability; and selective breeding can be improved significantly, simultaneously with increased production.

  5. The clinical and genetic correlates of MRI findings in myotonic dystrophy

    International Nuclear Information System (INIS)

    Bachmann, G.; Damian, M.S.; Koch, M.; Schilling, G.; Fach, B.; Stoeppler, S.

    1996-01-01

    Amplification of an unstable CTG trinucleotide repeat sequence in a protein kinase gene on chromosome 19 has recently been recognised as the molecular basis of myotonic dystrophy (DM), a multisystem disorder with a wide spectrum of muscular and extramuscular manifestations. The CTG expansion of 40 patients was assessed by direct genotype analysis of the white blood cell DNA and correlated with MRI of the brain and muscles, and with functional clinical data. Cerebral pathology on MRI consisted of diffuse atrophy (68 %), subcortical white matter lesions (65 %), wide Virchow-Robin spaces (38 %) and thickening of the skull (35 %). Cerebral atrophy and extent of white matter disease correlated significantly with mental retardation, duration of disease and CTG fragment amplification. MRI of the muscular system showed fatty degeneration of different degrees in neighbouring muscles causing a mosaic pattern of the thigh in 38 % and the calf in 44 %. Muscular changes on MRI were strongly correlated with muscular impairment but less strongly with CTG expansion. Changes on MRI reflect the stage of development of tissue pathology in DM, modified by defect of the DM gene. Pathology on MRI is strongly correlated with functional deficits. (orig.). With 8 figs., 3 tabs

  6. Succinate production positively correlates with the affinity of the global transcription factor Cra for its effector FBP in Escherichia coli.

    Science.gov (United States)

    Wei, Li-Na; Zhu, Li-Wen; Tang, Ya-Jie

    2016-01-01

    Effector binding is important for transcription factors, affecting both the pattern and function of transcriptional regulation to alter cell phenotype. Our previous work suggested that the affinity of the global transcription factor catabolite repressor/activator (Cra) for its effector fructose-1,6-bisphosphate (FBP) may contribute to succinate biosynthesis. To support this hypothesis, single-point and three-point mutations were proposed through the semi-rational design of Cra to improve its affinity for FBP. For the first time, a positive correlation between succinate production and the affinity of Cra for FBP was revealed in Escherichia coli . Using the best-fit regression function, a cubic equation was used to examine and describe the relationship between succinate production and the affinity of Cra for FBP, demonstrating a significant positive correlation between the two factors (coefficient of determination R 2  = 0.894, P  = 0.000 Cra and DNA showed that Cra bound to the promoter regions of pck and aceB to activate the corresponding genes. Normally, Cra-regulated operons under positive control are deactivated in the presence of FBP. Therefore, theoretically, the enhanced affinity of Cra for FBP will inhibit the activation of pck and aceB . However, the activation of genes involved in CO 2 fixation and the glyoxylate pathway was further improved by the Cra mutant, ultimately contributing to succinate biosynthesis. Enhanced binding of Cra to FBP or active site mutations may eliminate the repressive effect caused by FBP, thus leading to increased activation of genes associated with succinate biosynthesis in the Cra mutant. This work demonstrates an important transcriptional regulation strategy in the metabolic engineering of succinate production and provides useful information for better understanding of the regulatory mechanisms of transcription factors.

  7. TRAIL Death Receptor-4 Expression Positively Correlates With the Tumor Grade in Breast Cancer Patients With Invasive Ductal Carcinoma

    International Nuclear Information System (INIS)

    Sanlioglu, Ahter D.; Korcum, Aylin F.; Pestereli, Elif; Erdogan, Gulgun; Karaveli, Seyda; Savas, Burhan; Griffith, Thomas S.; Sanlioglu, Salih V.

    2007-01-01

    Purpose: Tumor necrosis factor-related apoptosis inducing ligand (TRAIL) selectively induces apoptosis in cancer cells but not in normal cells, and a number of clinical trials have recently been initiated to test the safety and antitumoral potential of TRAIL in cancer patients. Four different receptors have been identified to interact with TRAIL: two are death-inducing receptors (TRAIL-R1 [DR4] and TRAIL-R2 [DR5]), whereas the other two (TRAIL-R3 [DcR1] and TRAIL-R4 [DcR2]) do not induce death upon ligation and are believed to counteract TRAIL-induced cytotoxicity. Because high levels of DcR2 expression have recently been correlated with carcinogenesis in the prostate and lung, this study investigated the importance of TRAIL and TRAIL receptor expression in breast cancer patients with invasive ductal carcinoma, taking various prognostic markers into consideration. Methods and Materials: Immunohistochemical analyses were performed on 90 breast cancer patients with invasive ductal carcinoma using TRAIL and TRAIL receptor-specific antibodies. Age, menopausal status, tumor size, lymph node status, tumor grade, lymphovascular invasion, perineural invasion, extracapsular tumor extension, presence of an extensive intraductal component, multicentricity, estrogen and progesterone receptor status, and CerbB2 expression levels were analyzed with respect to TRAIL/TRAIL receptor expression patterns. Results: The highest TRAIL receptor expressed in patients with invasive ductal carcinoma was DR4. Although progesterone receptor-positive patients exhibited lower DR5 expression, CerbB2-positive tissues displayed higher levels of both DR5 and TRAIL expressions. Conclusions: DR4 expression positively correlates with the tumor grade in breast cancer patients with invasive ductal carcinoma

  8. Exploring evidence of positive selection reveals genetic basis of meat quality traits in Berkshire pigs through whole genome sequencing.

    Science.gov (United States)

    Jeong, Hyeonsoo; Song, Ki-Duk; Seo, Minseok; Caetano-Anollés, Kelsey; Kim, Jaemin; Kwak, Woori; Oh, Jae-Don; Kim, EuiSoo; Jeong, Dong Kee; Cho, Seoae; Kim, Heebal; Lee, Hak-Kyo

    2015-08-20

    Natural and artificial selection following domestication has led to the existence of more than a hundred pig breeds, as well as incredible variation in phenotypic traits. Berkshire pigs are regarded as having superior meat quality compared to other breeds. As the meat production industry seeks selective breeding approaches to improve profitable traits such as meat quality, information about genetic determinants of these traits is in high demand. However, most of the studies have been performed using trained sensory panel analysis without investigating the underlying genetic factors. Here we investigate the relationship between genomic composition and this phenotypic trait by scanning for signatures of positive selection in whole-genome sequencing data. We generated genomes of 10 Berkshire pigs at a total of 100.6 coverage depth, using the Illumina Hiseq2000 platform. Along with the genomes of 11 Landrace and 13 Yorkshire pigs, we identified genomic variants of 18.9 million SNVs and 3.4 million Indels in the mapped regions. We identified several associated genes related to lipid metabolism, intramuscular fatty acid deposition, and muscle fiber type which attribute to pork quality (TG, FABP1, AKIRIN2, GLP2R, TGFBR3, JPH3, ICAM2, and ERN1) by applying between population statistical tests (XP-EHH and XP-CLR). A statistical enrichment test was also conducted to detect breed specific genetic variation. In addition, de novo short sequence read assembly strategy identified several candidate genes (SLC25A14, IGF1, PI4KA, CACNA1A) as also contributing to lipid metabolism. Results revealed several candidate genes involved in Berkshire meat quality; most of these genes are involved in lipid metabolism and intramuscular fat deposition. These results can provide a basis for future research on the genomic characteristics of Berkshire pigs.

  9. Genetics

    DEFF Research Database (Denmark)

    Christensen, Kaare; McGue, Matt

    2016-01-01

    The sequenced genomes of individuals aged ≥80 years, who were highly educated, self-referred volunteers and with no self-reported chronic diseases were compared to young controls. In these data, healthy ageing is a distinct phenotype from exceptional longevity and genetic factors that protect...

  10. Position-dependent correlation function from the SDSS-III Baryon Oscillation Spectroscopic Survey Data Release 10 CMASS sample

    International Nuclear Information System (INIS)

    Chiang, Chi-Ting; Wagner, Christian; Sánchez, Ariel G.; Schmidt, Fabian; Komatsu, Eiichiro

    2015-01-01

    We report on the first measurement of the three-point function with the position-dependent correlation function from the SDSS-III Baryon Oscillation Spectroscopic Survey (BOSS) Data Release 10 CMASS sample. This new observable measures the correlation between two-point functions of galaxy pairs within different subvolumes, ξ-circumflex (ř,ř L ), where ř L is the location of a subvolume, and the corresponding mean overdensities, δ-bar (ř L ). This correlation, which we call the 'integrated three-point function', iζ(r)≡(ξ-circumflex (ř,ř L )δ-bar (ř L )), measures a three-point function of two short- and one long-wavelength modes, and is generated by nonlinear gravitational evolution and possibly also by the physics of inflation. The iζ(r) measured from the BOSS data lies within the scatter of those from the mock galaxy catalogs in redshift space, yielding a ten-percent-level determination of the amplitude of iζ(r). The tree-level perturbation theory in redshift space predicts how this amplitude depends on the linear and quadratic nonlinear galaxy bias parameters (b 1 and b 2 ), as well as on the amplitude and linear growth rate of matter fluctuations (σ 8 and f). Combining iζ(r) with the constraints on b 1σ 8 and fσ 8 from the global two-point correlation function and that on σ 8 from the weak lensing signal of BOSS galaxies, we measure b 2 =0.41±0.41 (68% C.L.) assuming standard perturbation theory at the tree level and the local bias model

  11. Hierarchical structure of genetic distances: Effects of matrix size, spatial distribution and correlation structure among gene frequencies

    Directory of Open Access Journals (Sweden)

    Flávia Melo Rodrigues

    1998-06-01

    Full Text Available Geographic structure of genetic distances among local populations within species, based on allozyme data, has usually been evaluated by estimating genetic distances clustered with hierarchical algorithms, such as the unweighted pair-group method by arithmetic averages (UPGMA. The distortion produced in the clustering process is estimated by the cophenetic correlation coefficient. This hierarchical approach, however, can fail to produce an accurate representation of genetic distances among populations in a low dimensional space, especially when continuous (clinal or reticulate patterns of variation exist. In the present study, we analyzed 50 genetic distance matrices from the literature, for animal taxa ranging from Platyhelminthes to Mammalia, in order to determine in which situations the UPGMA is useful to understand patterns of genetic variation among populations. The cophenetic correlation coefficients, derived from UPGMA based on three types of genetic distance coefficients, were correlated with other parameters of each matrix, including number of populations, loci, alleles, maximum geographic distance among populations, relative magnitude of the first eigenvalue of covariance matrix among alleles and logarithm of body size. Most cophenetic correlations were higher than 0.80, and the highest values appeared for Nei's and Rogers' genetic distances. The relationship between cophenetic correlation coefficients and the other parameters analyzed was defined by an "envelope space", forming triangles in which higher values of cophenetic correlations are found for higher values in the parameters, though low values do not necessarily correspond to high cophenetic correlations. We concluded that UPGMA is useful to describe genetic distances based on large distance matrices (both in terms of elevated number of populations or alleles, when dimensionality of the system is low (matrices with large first eigenvalues or when local populations are separated

  12. Fanconi anemia: correlating central nervous system malformations and genetic complementation groups.

    Science.gov (United States)

    Johnson-Tesch, Benjamin A; Gawande, Rakhee S; Zhang, Lei; MacMillan, Margaret L; Nascene, David R

    2017-06-01

    Congenital central nervous system abnormalities in children with Fanconi anemia are poorly characterized, especially with regard to specific genetic complementation groups. To characterize the impact of genetic complementation groups on central nervous system anatomy. Through chart review we identified 36 patients with Fanconi anemia with available brain MRIs at the University of Minnesota (average age, 11.3 years; range, 1-43 years; M:F=19:17), which we reviewed and compared to 19 age- and sex-matched controls (average age, 7.9 years; range, 2-18 years; M:F=9:10). Genotypic information was available for 27 patients (15 FA-A, 2 FA-C, 3 FA-G, and 7 FA-D1 [biallelic mutations in BRCA2 gene]). Of the 36 patients, 61% had at least one congenital central nervous system or skull base abnormality. These included hypoplastic clivus (n=12), hypoplastic adenohypophysis (n=11), platybasia (n=8), pontocerebellar hypoplasia (n=7), isolated pontine hypoplasia (n=4), isolated vermis hypoplasia (n=3), and ectopic neurohypophysis (n=6). Average pituitary volume was significantly less in patients with Fanconi anemia (PFanconi anemia patients (P=0.006), but the basal angle of those with FA-D1 was not significantly different from controls (P=0.239). Clivus length was less in the Fanconi anemia group (P=0.002), but significance was only observed in the FA-D1 subgroup (PFanconi anemia have higher incidences of ectopic neurohypophysis, adenohypophysis hypoplasia, platybasia and other midline central nervous system skull base posterior fossa abnormalities than age- and sex-matched controls. Patients with posterior fossa abnormalities, including pontocerebellar hypoplasia, are more likely to have biallelic BRCA2 mutations.

  13. Fanconi anemia: correlating central nervous system malformations and genetic complementation groups

    International Nuclear Information System (INIS)

    Johnson-Tesch, Benjamin A.; Gawande, Rakhee S.; Nascene, David R.; Zhang, Lei; MacMillan, Margaret L.

    2017-01-01

    Congenital central nervous system abnormalities in children with Fanconi anemia are poorly characterized, especially with regard to specific genetic complementation groups. To characterize the impact of genetic complementation groups on central nervous system anatomy. Through chart review we identified 36 patients with Fanconi anemia with available brain MRIs at the University of Minnesota (average age, 11.3 years; range, 1-43 years; M:F=19:17), which we reviewed and compared to 19 age- and sex-matched controls (average age, 7.9 years; range, 2-18 years; M:F=9:10). Genotypic information was available for 27 patients (15 FA-A, 2 FA-C, 3 FA-G, and 7 FA-D1 [biallelic mutations in BRCA2 gene]). Of the 36 patients, 61% had at least one congenital central nervous system or skull base abnormality. These included hypoplastic clivus (n=12), hypoplastic adenohypophysis (n=11), platybasia (n=8), pontocerebellar hypoplasia (n=7), isolated pontine hypoplasia (n=4), isolated vermis hypoplasia (n=3), and ectopic neurohypophysis (n=6). Average pituitary volume was significantly less in patients with Fanconi anemia (P<0.0001) than in controls. Basal angle was significantly greater in Fanconi anemia patients (P=0.006), but the basal angle of those with FA-D1 was not significantly different from controls (P=0.239). Clivus length was less in the Fanconi anemia group (P=0.002), but significance was only observed in the FA-D1 subgroup (P<0.0001). Of the seven patients meeting criteria for pontocerebellar hypoplasia, six belonged to the FA-D1 group. Patients with Fanconi anemia have higher incidences of ectopic neurohypophysis, adenohypophysis hypoplasia, platybasia and other midline central nervous system skull base posterior fossa abnormalities than age- and sex-matched controls. Patients with posterior fossa abnormalities, including pontocerebellar hypoplasia, are more likely to have biallelic BRCA2 mutations. (orig.)

  14. Correlation of Klebsiella pneumoniae comparative genetic analyses with virulence profiles in a murine respiratory disease model.

    Directory of Open Access Journals (Sweden)

    Ramy A Fodah

    Full Text Available Klebsiella pneumoniae is a bacterial pathogen of worldwide importance and a significant contributor to multiple disease presentations associated with both nosocomial and community acquired disease. ATCC 43816 is a well-studied K. pneumoniae strain which is capable of causing an acute respiratory disease in surrogate animal models. In this study, we performed sequencing of the ATCC 43816 genome to support future efforts characterizing genetic elements required for disease. Furthermore, we performed comparative genetic analyses to the previously sequenced genomes from NTUH-K2044 and MGH 78578 to gain an understanding of the conservation of known virulence determinants amongst the three strains. We found that ATCC 43816 and NTUH-K2044 both possess the known virulence determinant for yersiniabactin, as well as a Type 4 secretion system (T4SS, CRISPR system, and an acetonin catabolism locus, all absent from MGH 78578. While both NTUH-K2044 and MGH 78578 are clinical isolates, little is known about the disease potential of these strains in cell culture and animal models. Thus, we also performed functional analyses in the murine macrophage cell lines RAW264.7 and J774A.1 and found that MGH 78578 (K52 serotype was internalized at higher levels than ATCC 43816 (K2 and NTUH-K2044 (K1, consistent with previous characterization of the antiphagocytic properties of K1 and K2 serotype capsules. We also examined the three K. pneumoniae strains in a novel BALB/c respiratory disease model and found that ATCC 43816 and NTUH-K2044 are highly virulent (LD50<100 CFU while MGH 78578 is relatively avirulent.

  15. Fanconi anemia: correlating central nervous system malformations and genetic complementation groups

    Energy Technology Data Exchange (ETDEWEB)

    Johnson-Tesch, Benjamin A. [University of Minnesota, Department of Radiology, Minneapolis, MN (United States); Gawande, Rakhee S.; Nascene, David R. [University of Minnesota, Department of Radiology, Neuroradiology Section, Minneapolis, MN (United States); Zhang, Lei [University of Minnesota, Biostatistical Design and Analysis Centre, Minneapolis, MN (United States); MacMillan, Margaret L. [University of Minnesota, Blood and Marrow Transplant Program, Department of Pediatrics, Minneapolis, MN (United States)

    2017-06-15

    Congenital central nervous system abnormalities in children with Fanconi anemia are poorly characterized, especially with regard to specific genetic complementation groups. To characterize the impact of genetic complementation groups on central nervous system anatomy. Through chart review we identified 36 patients with Fanconi anemia with available brain MRIs at the University of Minnesota (average age, 11.3 years; range, 1-43 years; M:F=19:17), which we reviewed and compared to 19 age- and sex-matched controls (average age, 7.9 years; range, 2-18 years; M:F=9:10). Genotypic information was available for 27 patients (15 FA-A, 2 FA-C, 3 FA-G, and 7 FA-D1 [biallelic mutations in BRCA2 gene]). Of the 36 patients, 61% had at least one congenital central nervous system or skull base abnormality. These included hypoplastic clivus (n=12), hypoplastic adenohypophysis (n=11), platybasia (n=8), pontocerebellar hypoplasia (n=7), isolated pontine hypoplasia (n=4), isolated vermis hypoplasia (n=3), and ectopic neurohypophysis (n=6). Average pituitary volume was significantly less in patients with Fanconi anemia (P<0.0001) than in controls. Basal angle was significantly greater in Fanconi anemia patients (P=0.006), but the basal angle of those with FA-D1 was not significantly different from controls (P=0.239). Clivus length was less in the Fanconi anemia group (P=0.002), but significance was only observed in the FA-D1 subgroup (P<0.0001). Of the seven patients meeting criteria for pontocerebellar hypoplasia, six belonged to the FA-D1 group. Patients with Fanconi anemia have higher incidences of ectopic neurohypophysis, adenohypophysis hypoplasia, platybasia and other midline central nervous system skull base posterior fossa abnormalities than age- and sex-matched controls. Patients with posterior fossa abnormalities, including pontocerebellar hypoplasia, are more likely to have biallelic BRCA2 mutations. (orig.)

  16. Molecular genetics of Turner syndrome: correlation with clinical phenotype and response to growth hormone therapy.

    Science.gov (United States)

    Tsezou, A; Hadjiathanasiou, C; Gourgiotis, D; Galla, A; Kavazarakis, E; Pasparaki, A; Kapsetaki, M; Sismani, C; Theodoridis, C; Patsalis, P C; Moschonas, N; Kitsiou, S

    1999-12-01

    To correlate the origin of the retained X in Turner syndrome with phenotype, pre-treatment height and response to recombinant human growth hormone (rhGH) therapy, systematic clinical assessment and molecular studies were carried out in 33 Greek children with Turner syndrome and their parents including 18 children with 45,X and 15 with X-mosaicism. Microsatellite markers on X chromosomes (DXS101 and DXS337) revealed that the intact X was paternal (Xp) in 15/30 and maternal (Xm) in 15/30 children, while 3/33 families were non-informative. No significant relationship was found between parental origin of the retained X and birth weight/length/gestational age, blepharoptosis, pterygium colli, webbed neck, low hairline, abnormal ears, lymphoedema, short 4th metacarpal, shield chest, widely spaced nipples, cubitus valgus, pigmented naevi, streak gonads, and cardiovascular/renal anomalies. With regard to the children's pre-treatment height, there was a significant correlation with maternal height and target height in both Xm and Xp groups. No differences were found between Xm and Xp groups and the improvement of growth velocity (GV) during the first and second year of rhGH administration, while for both groups GV significantly improved with rhGH by the end of the first and the second year. To our knowledge, this is the first attempt to correlate the parental origin of Turner syndrome with the response to rhGH therapy.

  17. A simple procedure to analyze positions of interest in infectious cell cultures by correlative light and electron microscopy.

    Science.gov (United States)

    Madela, Kazimierz; Banhart, Sebastian; Zimmermann, Anja; Piesker, Janett; Bannert, Norbert; Laue, Michael

    2014-01-01

    Plastic cell culture dishes that contain a thin bottom of highest optical quality including an imprinted finder grid (μ-Dish Grid-500) are optimally suited for routine correlative light and electron microscopy using chemical fixation. Such dishes allow high-resolution fluorescence and bright-field imaging using fixed and living cells and are compatible with standard protocols for scanning and transmission electron microscopy. Ease of use during cell culture and imaging, as well as a tight cover render the dishes particularly suitable for working with infectious organisms up to the highest biosafety level. Detailed protocols are provided and demonstrated by showing two examples: monitoring the production of virus-like particles of the Human Endogenous Retrovirus HERV-K(HML-2) by HeLa cells and investigation of Rab11-positive membrane-compartments of HeLa cells after infection with Chlamydia trachomatis. © 2014 Elsevier Inc. All rights reserved.

  18. Vascular endothelial growth factor and basic fibroblast growth factor expression positively correlates with angiogenesis and peritumoural brain oedema in astrocytoma

    International Nuclear Information System (INIS)

    Jang, F.F.; Wei, W.

    2008-01-01

    Astrocytoma is the most malignant intracranial neoplasm and is characterized by high neovascularization and peritumoural brain oedema. Angiogenesis is a complicated process in oncogenesis regulated by the balance between angiogenic and antiangiogenic factors. The expression of two angiogenic growth factors, vascular endothelial growth factor and basic fibroblast growth factor were investigated using immunohistochemistry for astrocytoma from 82 patients and 11 normal human tissues. The expression of vascular endothelial growth factor and basic fibroblast growth factor positively correlate with the pathological grade of astrocytoma, microvessel density numbers and brain oedema, which may be responsible for the increased tumour neovascularization and peritumoural brain oedema. The results support the idea that inhibiting vascular endothelial growth factor and basic fibroblast growth factor are useful for the treatment of human astrocytoma and to improve patient's clinical outcomes and prognosis. (author)

  19. Endogenous plasma estradiol in healthy men is positively correlated with cerebral cortical serotonin 2A receptor binding

    DEFF Research Database (Denmark)

    Frokjaer, Vibe G.; Erritzoe, David; Juul, Anders

    2010-01-01

    the effect of plasma sex hormone levels on neocortical 5-HT2A receptor binding as imaged with [18F]altanserin PET. The effect of endogenous sex-hormone levels was evaluated by multiple linear regression analysis. Results: Mean neocortical 5-HT2A receptor binding was positively correlated with estradiol (p......Background: Sex-hormones influence brain function and are likely to play a role in the gender predisposition to mood and anxiety disorders. Acute fluctuations of sex-hormone levels including hormonal replacement therapy appear to affect serotonergic neurotransmission, but it is unknown if baseline...... levels affect serotonergic neurotransmission. This study was undertaken to examine if baseline levels of endogenous sex hormones are associated with cerebral serotonin 2A (5-HT2A) receptor binding in men. Methods: In a group of 72 healthy men (mean age 37.5 years ±17.4 SD, range 19.6–81.7) we studied...

  20. Correlation of genetic variability with safety of mumps vaccine Urabe AM9 strain.

    Science.gov (United States)

    Amexis, G; Fineschi, N; Chumakov, K

    2001-08-15

    The Urabe AM9 strain of mumps vaccine live is known for its genetic instability and some vaccines derived from this strain were withdrawn from the market due to an excessive number of vaccine-associated parotitis and meningitis cases. To identify the molecular basis of this instability, we determined complete nucleotide sequences of several stocks of the Urabe strain used for vaccine production by different manufacturers and of two clinical isolates from cases of vaccine-associated meningitis. In contrast to previously published studies relating the Lys335 --> Glu mutation in the viral HN gene with neurovirulence of mumps virus, we could not confirm any association of this mutation with the safety of mumps vaccine. Each of the three vaccine stocks studied had its own characteristic profile of mutations that was identified by cDNA sequencing and quantitated by mutant analysis by PCR and restriction enzyme cleavage. Determination of the mutational profile of mumps vaccine lots could allow vaccine manufacturers to characterize seed viruses and monitor the consistency of vaccine production to prevent emergence of virulent revertants.

  1. Genetic Correlates of Maladaptive Beliefs: COMT VAL(158)MET and Irrational Cognitions Linked Depending on Distress.

    Science.gov (United States)

    Podina, Ioana; Popp, Radu; Pop, Ioan; David, Daniel

    2015-11-01

    Maladaptive/irrational beliefs are significant cognitive vulnerability mechanisms in psychopathology. They are more likely to be associated with a genetic vulnerability marker under conditions of emotional distress when irrational beliefs are more salient. Therefore, in the current study we investigated the COMT Val(158)Met gene variation in relation to irrational beliefs, assuming this relationship depended on the level of emotional distress. Two hundred and sixty-seven genotyped volunteers were assessed for core/general maladaptive beliefs, as well as trait emotional distress. We focused on context-independent measures of irrational beliefs and emotional distress in the absence of a stressor. As expected, the relationship between COMT Val(158)Met and irrational beliefs depended on the level of emotional distress (f(2)=.314). The COMT Val(158)Met-irrationality association was significant only when individuals fell in the average to above average range of emotional distress. Furthermore, within this range the Met allele seemed to relate to higher irrational beliefs. These results were significant for overall irrational beliefs and its subtypes, but not for rational beliefs, the functional counterpart of irrationality. In light of the study's limitations, the results should be considered as preliminary. If replicable, these findings have potential implications for therapygenetics, changing the view that COMT Val(158)Met might be of greater relevance when treatment modality does not rely on cognitive variables. Copyright © 2015. Published by Elsevier Ltd.

  2. Serum liver fatty acid binding protein levels correlate positively with obesity and insulin resistance in Chinese young adults.

    Directory of Open Access Journals (Sweden)

    Juan Shi

    Full Text Available BACKGROUND: Liver fatty acid-binding protein (FABP1 plays an inconclusive role in adiposity. We investigated the association of serum FABP1 levels with obesity and insulin resistance in Chinese young people under 30 years old. METHODOLOGY AND PRINCIPAL FINDINGS: Cross-sectional analysis including 200 obese and 172 normal-weight subjects matched for age and sex, anthropometric measurements were performed and serum FABP1 and biochemical characteristics were measured. Insulin resistance was determined by homeostasis model assessment of insulin resistance (HOMA-IR and by the insulin sensitivity index (S(i derived from Bergman's minimal model. FABP1 levels in obese subjects were significantly higher than those in normal-weight subjects (p<0.001 and the significance remained after adjustment for age, gender, alanine and aspartate aminotransferases (p<0.001. Serum FABP1 levels were significantly correlated with many metabolic-related parameters, with BMI and triglycerides as the independent determinants. FABP1 levels remained an independent risk factor of insulin resistance assessed by binary S(i (OR = 1.868 per SD unit, 95% CI [1.035-3.373], p = 0.038 after adjustment for age, sex, BMI, waist circumference, systolic blood pressure, serum triacylglycerol, total cholesterol, HDL- and LDL-cholesterol,. FABP1 levels were also elevated with an increasing number of components of the metabolic syndrome (p for trend <0.001. Multiple regression modeling for the MetS and its components demonstrated that hypertriglyceridemia and low HDL-cholesterol were significantly correlated to serum FABP1 levels. CONCLUSIONS AND SIGNIFICANCE: Serum FABP1 correlates positively with obesity and insulin resistance in Chinese young adults. Our data supports the fact that FABP1 might be an important mediator participating in fatty acid metabolism and energy balance.

  3. [In patients with Graves' disease signal-averaged P wave duration positively correlates with the degree of thyrotoxicosis].

    Science.gov (United States)

    Czarkowski, Marek; Oreziak, Artur; Radomski, Dariusz

    2006-04-01

    Coexistence of the goitre, proptosis and palpitations was observed in XIX century for the first time. Sinus tachyarytmias and atrial fibrillation are typical cardiac symptoms of hyperthyroidism. Atrial fibrillation occurs more often in patients with toxic goiter than in young patients with Grave's disease. These findings suggest that causes of atrial fibrillation might be multifactorial in the elderly. The aims of our study were to evaluate correlations between the parameters of atrial signal averaged ECG (SAECG) and the serum concentration of thyroid free hormones. 25 patient with untreated Grave's disease (G-B) (age 29,6 +/- 9,0 y.o.) and 26 control patients (age 29,3 +/- 6,9 y.o.) were enrolled to our study. None of them had history of atrial fibrillation what was confirmed by 24-hour ECG Holter monitoring. The serum fT3, fT4, TSH were determined in the venous blood by the immunoenzymatic method. Atrial SAECG recording with filtration by zero phase Butterworth filter (45-150 Hz) was done in all subjects. The duration of atrial vector magnitude (hfP) and root meat square of terminal 20ms of atrial vector magnitude (RMS20) were analysed. There were no significant differences in values of SAECG parameters (hfP, RMS20) between investigated groups. The positive correlation between hfP and serum fT3 concentration in group G-B was observed (Spearman's correlation coefficient R = 0.462, p Grave's disease depends not only on hyperthyroidism but on serum concentration of fT3 also.

  4. A new mouse model for mania shares genetic correlates with human bipolar disorder.

    Directory of Open Access Journals (Sweden)

    Michael C Saul

    Full Text Available Bipolar disorder (BPD is a debilitating heritable psychiatric disorder. Contemporary rodent models for the manic pole of BPD have primarily utilized either single locus transgenics or treatment with psychostimulants. Our lab recently characterized a mouse strain termed Madison (MSN that naturally displays a manic phenotype, exhibiting elevated locomotor activity, increased sexual behavior, and higher forced swimming relative to control strains. Lithium chloride and olanzapine treatments attenuate this phenotype. In this study, we replicated our locomotor activity experiment, showing that MSN mice display generationally-stable mania relative to their outbred ancestral strain, hsd:ICR (ICR. We then performed a gene expression microarray experiment to compare hippocampus of MSN and ICR mice. We found dysregulation of multiple transcripts whose human orthologs are associated with BPD and other psychiatric disorders including schizophrenia and ADHD, including: Epor, Smarca4, Cmklr1, Cat, Tac1, Npsr1, Fhit, and P2rx7. RT-qPCR confirmed dysregulation for all of seven transcripts tested. Using a novel genome enrichment algorithm, we found enrichment in genome regions homologous to human loci implicated in BPD in replicated linkage studies including homologs of human cytobands 1p36, 3p14, 3q29, 6p21-22, 12q24, 16q24, and 17q25. Using a functional network analysis, we found dysregulation of a gene system related to chromatin packaging, a result convergent with recent human findings on BPD. Our findings suggest that MSN mice represent a polygenic model for the manic pole of BPD showing much of the genetic systems complexity of the corresponding human disorder. Further, the high degree of convergence between our findings and the human literature on BPD brings up novel questions about evolution by analogy in mammalian genomes.

  5. Genetic variability of environmental sensitivity revealed by phenotypic variation in body weight and (its correlations to physiological and behavioral traits.

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    Delphine Lallias

    Full Text Available Adaptive phenotypic plasticity is a key component of the ability of organisms to cope with changing environmental conditions. Fish have been shown to exhibit a substantial level of phenotypic plasticity in response to abiotic and biotic factors. In the present study, we investigate the link between environmental sensitivity assessed globally (revealed by phenotypic variation in body weight and more targeted physiological and behavioral indicators that are generally used to assess the sensitivity of a fish to environmental stressors. We took advantage of original biological material, the rainbow trout isogenic lines, which allowed the disentangling of the genetic and environmental parts of the phenotypic variance. Ten lines were characterized for the changes of body weight variability (weight measurements taken every month during 18 months, the plasma cortisol response to confinement stress (3 challenges and a set of selected behavioral indicators. This study unambiguously demonstrated the existence of genetic determinism of environmental sensitivity, with some lines being particularly sensitive to environmental fluctuations and others rather insensitive. Correlations between coefficient of variation (CV for body weight and behavioral and physiological traits were observed. This confirmed that CV for body weight could be used as an indicator of environmental sensitivity. As the relationship between indicators (CV weight, risk-taking, exploration and cortisol was shown to be likely depending on the nature and intensity of the stressor, the joint use of several indicators should help to investigate the biological complexity of environmental sensitivity.

  6. Phenotypic and Genetic Correlations of Feed Efficiency Traits with Growth and Carcass Traits in Nellore Cattle Selected for Postweaning Weight

    Science.gov (United States)

    Ceacero, Thais Matos; Mercadante, Maria Eugênia Zerlotti; Cyrillo, Joslaine Noely dos Santos Gonçalves; Canesin, Roberta Carrilho; Bonilha, Sarah Figueiredo Martins; de Albuquerque, Lucia Galvão

    2016-01-01

    This study evaluated phenotypic (rph) and genetic correlations (rg) between 8 feed efficiency traits and other traits of economic interest including weight at selection (WS), loin-eye area (LEA), backfat thickness (BF), and rump fat thickness (RF) in Nellore cattle. Feed efficiency traits were gain:feed, residual feed intake (RFI), residual feed intake adjusted for backfat thickness (RFIb) and for backfat and rump fat thickness (RFIsf), residual body weight gain (RG), residual intake and body weight gain (RIG), and residual intake and body weight gain using RFIb (RIGb) and RFIsf (RIGsf). The variance components were estimated by the restricted maximum likelihood method using a two-trait animal model. The heritability estimates (h2) were 0.14, 0.24, 0.20, 0.22, 0.19, 0.15, 0.11 and 0.11 for gain:feed, RFI, RFIb, RFIsf, RG, RIG, RIGb and RIGsf, respectively. All rph values between traits were close to zero, except for the correlation of feed efficiency traits with dry matter intake and average daily gain. High rg values were observed for the correlation of dry matter intake, average daily gain and metabolic weight with WS and hip height (>0.61) and low to medium values (0.15 to 0.48) with the carcass traits (LEA, BF, RF). Among the feed efficiency traits, RG showed the highest rg with WS and hip height (0.34 and 0.25) and the lowest rg with subcutaneous fat thickness (-0.17 to 0.18). The rg values of RFI, RFIb and RFIsf with WS (0.17, 0.23 and 0.22), BF (0.37, 0.33 and 0.33) and RF (0.30, 0.31 and 0.32) were unfavorable. The rg values of gain:feed, RIG, RIGb and RIGsf with WS were low and favorable (0.07 to 0.22), while medium and unfavorable (-0.22 to -0.45) correlations were observed with fat thickness. The inclusion of subcutaneous fat thickness in the models used to calculate RFI did not reduce the rg between these traits. Selecting animals for higher feed efficiency will result in little or no genetic change in growth and will decrease subcutaneous fat thickness

  7. Genetic diversity, phylogroup distribution and virulence gene profile of pks positive Escherichia coli colonizing human intestinal polyps.

    Science.gov (United States)

    Sarshar, Meysam; Scribano, Daniela; Marazzato, Massimiliano; Ambrosi, Cecilia; Aprea, Maria Rita; Aleandri, Marta; Pronio, Annamaria; Longhi, Catia; Nicoletti, Mauro; Zagaglia, Carlo; Palamara, Anna Teresa; Conte, Maria Pia

    2017-11-01

    Some Escherichia coli strains of phylogroup B2 harbor a (pks) pathogenicity island that encodes a polyketide-peptide genotoxin called colibactin. It causes DNA double-strand breaks and megalocytosis in eukaryotic cells and it may contribute to cancer development. Study of bacterial community that colonizes the adenomatous polyp lesion, defined as precancerous lesions, could be helpful to assess if such pathogenic bacteria possess a role in the polyp progression to cancer. In this cross-sectional study, a total of 1500 E. coli isolates were obtained from biopsies of patients presenting adenomatous colon polyps, the normal tissues adjacent to the polyp lesion and patients presenting normal mucosa. pks island frequency, phylogenetic grouping, fingerprint genotyping, and virulence gene features of pks positive (pks + ) E. coli isolates were performed. We found pks + E. coli strongly colonize two patients presenting polypoid lesions and none were identified in patients presenting normal mucosa. Predominant phylogroups among pks + E. coli isolates were B2, followed by D. Clustering based on fragment profiles of composite analysis, typed the pks + isolates into 5 major clusters (I-V) and 17 sub-clusters, demonstrating a high level of genetic diversity among them. The most prevalent virulence genes were fimH and fyuA (100%), followed by vat (92%), hra and papA (69%), ibeA (28%), and hlyA (25%). Our results revealed that pks + E. coli can colonize the precancerous lesions, with a high distribution in both the polyp lesions and in normal tissues adjacent to the lesion. The high differences in fingerprinting patterns obtained indicate that pks + E. coli strains were genetically diverse, possibly allowing them to more easily adapt to environmental variations. Copyright © 2017 Elsevier Ltd. All rights reserved.

  8. HLA similarities indicate shared genetic risk in 21-hydroxylase autoantibody positive South African and United States Addison's disease.

    Science.gov (United States)

    Ross, I L; Babu, S; Armstrong, T; Zhang, L; Schatz, D; Pugliese, A; Eisenbarth, G; Baker Ii, P

    2014-10-01

    Genetic similarities between patients from the United States and South African (SA) Addison's Disease (AD) strengthen evidence for genetic association. SA-AD (n = 73), SA healthy controls (N = 78), and US-AD patients (N = 83) were genotyped for DQA1, DQB1, DRB1, and HLA-B alleles. Serum was tested for the quantity of 21OH-AA and IFNα-AA at the Barbara Davis Center. Although not as profound as in US-AD, in SA-AD 21OH-AA + subjects the predominantly associated risk haplotypes were DRB1*0301-DQB1*0201 (DR3), DRB1*04xx-DQB1*0302 (DR4), and the combined DR3/4 genotype. DQB1*0302 associated DRB1*04xx haplotypes conferred higher risk than those DRB1*04xx haplotypes associated with other DQB1 alleles. We found negative association in 21OH-AA + SA-AD for DQA1*0201-DQB1*0202 and DQA1*0101-DQB1*0501 vs SA controls, and positive association for DQA1*0401-DQB1*0402 vs US-AD. Apart from the class II DR3 haplotype, HLA-B8 did not have an independent effect; however together DR3 and HLA-B8 conferred the highest risk vs 21OH-AA negative SA-AD and SA-controls. HLA-B7 (often with DR4) conferred novel risk in 21OH-AA + SA-AD vs controls. This study represents the first comparison between South African and United States AD populations utilizing genotyping and serology performed at the same center. SA-AD and US-AD 21OH-AA + patients share common HLA risk haplotypes including DR4 (with HLA-B7) and DR3 (with HLA-B8), strengthening previously described HLA associations and implicating similar genetic etiology. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  9. Genetic variations in the DNA replication origins of human papillomavirus family correlate with their oncogenic potential.

    Science.gov (United States)

    Yilmaz, Gulden; Biswas-Fiss, Esther E; Biswas, Subhasis B

    2018-04-01

    Human papillomaviruses (HPVs) encompass a large family of viruses that range from benign to highly carcinogenic. The crucial differences between benign and carcinogenic types of HPV remain unknown, except that the two HPV types differ in the frequency of DNA replication. We have systematically analyzed the mechanism of HPV DNA replication initiation in low-risk and high-risk HPVs. Our results demonstrate that HPV-encoded E2 initiator protein and its four binding sites in the replication origin play pivotal roles in determining the destiny of the HPV-infected cell. We have identified strain-specific single nucleotide variations in E2 binding sites found only in the high-risk HPVs. We have demonstrated that these variations result in attenuated formation of the E2-DNA complex. E2 binding to these sites is linked to the activation of the DNA replication origin as well as initiation of DNA replication. Both electrophoretic mobility shift assay and atomic force microscopy studies demonstrated that binding of E2 from either low- or high-risk HPVs with variant binding sequences lacked multimeric E2-DNA complex formation in vitro. These results provided a molecular basis of differential DNA replication in the two types of HPVs and pointed to a correlation with the development of cancer. Copyright © 2017. Published by Elsevier B.V.

  10. Genetic correlations between brain volumes and the WAIS-III dimensions of verbal comprehension, working memory, perceptual organization, and processing speed

    DEFF Research Database (Denmark)

    Posthuma, Daniëlle; Baare, Wim F.C.; Hulshoff Pol, Hilleke E.

    2003-01-01

    We recently showed that the correlation of gray and white matter volume with full scale IQ and the Working Memory dimension are completely mediated by common genetic factors (Posthuma et al., 2002). Here we examine whether the other WAIS III dimensions (Verbal Comprehension, Perceptual Organization......, Processing Speed) are also related to gray and white matter volume, and whether any of the dimensions are related to cerebellar volume. Two overlapping samples provided 135 subjects from 60 extended twin families for whom both MRI scans and WAIS III data were available. All three brain volumes are related...... to Working Memory capacity (r = 0.27). This phenotypic correlation is completely due to a common underlying genetic factor. Processing Speed was genetically related to white matter volume (r(g) = 0.39). Perceptual Organization was both genetically (r(g) = 0.39) and environmentally (r(e) = -0.71) related...

  11. A significant positive correlation between endogenous trans-zeatin content and total arsenic in arsenic hyperaccumulator Pteris cretica var. nervosa.

    Science.gov (United States)

    Zhang, Xuemei; Yang, Xiaoyan; Wang, Hongbin; Li, Qinchun; Wang, Haijuan; Li, Yanyan

    2017-04-01

    A pot experiment was conducted to compare the content of endogenous trans-zeatin (Z), plant arsenic (As) uptake and physiological indices in the fronds of As-hyperaccumulator (Pteris cretica var. nervosa) and non-hyperaccumulator (Pteris ensiformis). Furthermore, a stepwise regression method was used to study the relationship among determined indices, and the time-course effect of main indices was also investigated under 100mg/kg As stress with time extension. In the 100-200mg/kg As treatments, plant height showed no significant difference and endogenous Z content significantly increased in P. cretica var. nervosa compared to the control, but a significant decrease of height and endogenous Z was observed in P. ensiformis. The concentrations of As (III) and As (V) increased significantly in the fronds of two plants, but this increase was much higher in P. cretica var. nervosa. Compared to the control, the contents of chlorophyll and soluble protein were significantly increased in P. cretica var. nervosa but decreased in P. ensiformis in the 200mg/kg As treatment, respectively. A significant positive correlation was found between the contents of endogenous Z and total As in P. cretica var. nervosa, but such a correlation was not found in P. ensiformis. Additionally, in the time-course effect experiment, a peak value of each index was appeared in the 43rd day in two plants, except for chlorophyll in P. ensiformis, but this value was significantly higher in P. cretica var. nervosa than that in P. ensiformis. In conclusion, a higher endogenous Z content contributed to As accumulation of P. cretica var. nervosa under As stress. Copyright © 2016 Elsevier Inc. All rights reserved.

  12. Hemoglobin A1c Is Positively Correlated with Framingham Risk Score in Older, Apparently Healthy Nondiabetic Korean Adults

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    Ji Hye Shin

    2013-06-01

    Full Text Available BackgroundSeveral studies have suggested that elevated levels of hemoglobin A1c (HbA1c are associated with cardiovascular disease (CVD in nondiabetic individuals. However, it is unclear whether HbA1c levels can serve as a simple screening marker for increased CVD risk in nondiabetic individuals. Our objective was to evaluate the relationship between HbA1c levels and CVD risk using the Framingham risk score (FRS in older, apparently healthy nondiabetic Korean adults.MethodsWe retrospectively studied 2,879 Korean adults between the ages of 40 and 79 who underwent voluntary health check-ups at the Health Promotion Center of our hospital from July 2009 to June 2011. Subjects were subdivided based on their HbA1c levels into four groups: tertiles within the HbA1c normal tolerance range and a group for subjects with an increased risk for diabetes (IRD.ResultsThe mean FRS for the upper tertile (9.6±3.8 group was significantly higher than that of the middle tertile (8.4±4.0 and lower tertile (7.6±3.8 groups. In addition, FRS was highest in the IRD group (10.5±3.7. Multiple linear regression analysis demonstrated that HbA1c levels exhibited a significant positive correlation with FRS when adjusted for confounding variables in all subjects (β±standard error [SE], 0.018±0.002; R2, 0.131, women (β±SE, 0.023±0.003; R2, 0.170, and men (β±SE, 0.016±0.004; R2, 0.109.ConclusionHbA1c levels were positively correlated with FRS in older, apparently healthy nondiabetic Korean adults. We propose that HbA1c levels may reflect CVD risk in nondiabetic individuals.

  13. Effect of temperature on the morphological characteristics of Botrytis cinerea and its correlated with the genetic variability

    Directory of Open Access Journals (Sweden)

    Jorge G Fernández

    2014-07-01

    Full Text Available Objective: To study the effect of temperature on the morphological characteristics of Botrytis cinerea (B. cinerea and its correlated with the genetic variability. B. cinerea is a plant-pathogenic fungus that produces the disease known as grey mould in a wide variety of agriculturally important hosts in many countries. Methods: Six strains from different host collected have been isolated and characterized by several methods as mycelial growth, fungicide resistance, pathogenicity and the effects of the temperature. Also was analyzed by PCR and distinguished by the presence or absence of transposable elements. Results: Results showed that clear morphological differences exist between strains at the temperature of 4, 12 and 28 °C. All strains analyzed molecularly were classified as Group II (transposa-type. Demonstrating a negative correlation between mycelial growth and other characteristics as the fungicide resistance and pathogenicity. Lastly, it is difficult to establish relationships phenotypic and genotypic between strains of B. cinerea. Conclusions: The results indicated that the mycelial growth, resistance at fungicide and pathogenicity are independent of the characteristics molecular, however, are dependent of a factor such as temperature.

  14. Developmental Associations between Short-Term Variability and Long-Term Changes: Intraindividual Correlation of Positive and Negative Affect in Daily Life and Cognitive Aging

    Science.gov (United States)

    Hülür, Gizem; Hoppmann, Christiane A.; Ram, Nilam; Gerstorf, Denis

    2015-01-01

    Conceptual notions and empirical evidence suggest that the intraindividual correlation (iCorr) of positive affect (PA) and negative affect (NA) is a meaningful characteristic of affective functioning. PA and NA are typically negatively correlated within-person. Previous research has found that the iCorr of PA and NA is relatively stable over time…

  15. Ergodic channel capacity of spatial correlated multiple-input multiple-output free space optical links using multipulse pulse-position modulation

    Science.gov (United States)

    Wang, Huiqin; Wang, Xue; Cao, Minghua

    2017-02-01

    The spatial correlation extensively exists in the multiple-input multiple-output (MIMO) free space optical (FSO) communication systems due to the channel fading and the antenna space limitation. Wilkinson's method was utilized to investigate the impact of spatial correlation on the MIMO FSO communication system employing multipulse pulse-position modulation. Simulation results show that the existence of spatial correlation reduces the ergodic channel capacity, and the reception diversity is more competent to resist this kind of performance degradation.

  16. Correlation of Positive and Negative Reciprocity Fails to Confer an Evolutionary Advantage: Phase Transitions to Elementary Strategies

    Science.gov (United States)

    Szolnoki, Attila; Perc, Matjaž

    2013-10-01

    Economic experiments reveal that humans value cooperation and fairness. Punishing unfair behavior is therefore common, and according to the theory of strong reciprocity, it is also directly related to rewarding cooperative behavior. However, empirical data fail to confirm that positive and negative reciprocity are correlated. Inspired by this disagreement, we determine whether the combined application of reward and punishment is evolutionarily advantageous. We study a spatial public goods game, where in addition to the three elementary strategies of defection, rewarding, and punishment, a fourth strategy that combines the latter two competes for space. We find rich dynamical behavior that gives rise to intricate phase diagrams where continuous and discontinuous phase transitions occur in succession. Indirect territorial competition, spontaneous emergence of cyclic dominance, as well as divergent fluctuations of oscillations that terminate in an absorbing phase are observed. Yet, despite the high complexity of solutions, the combined strategy can survive only in very narrow and unrealistic parameter regions. Elementary strategies, either in pure or mixed phases, are much more common and likely to prevail. Our results highlight the importance of patterns and structure in human cooperation, which should be considered in future experiments.

  17. Length of stay for patients undergoing invasive electrode monitoring with stereoelectroencephalography and subdural grids correlates positively with increased institutional profitability.

    Science.gov (United States)

    Chan, Alvin Y; Kharrat, Sohayla; Lundeen, Kelly; Mnatsakanyan, Lilit; Sazgar, Mona; Sen-Gupta, Indranil; Lin, Jack J; Hsu, Frank P K; Vadera, Sumeet

    2017-06-01

    Lowering the length of stay (LOS) is thought to potentially decrease hospital costs and is a metric commonly used to manage capacity. Patients with epilepsy undergoing intracranial electrode monitoring may have longer LOS because the time to seizure is difficult to predict or control. This study investigates the effect of economic implications of increased LOS in patients undergoing invasive electrode monitoring for epilepsy. We retrospectively collected and analyzed patient data for 76 patients who underwent invasive monitoring with either subdural grid (SDG) implantation or stereoelectroencephalography (SEEG) over 2 years at our institution. Data points collected included invasive electrode type, LOS, profit margin, contribution margins, insurance type, and complication rates. LOS correlated positively with both profit and contribution margins, meaning that as LOS increased, both the profit and contribution margins rose, and there was a low rate of complications in this patient group. This relationship was seen across a variety of insurance providers. These data suggest that LOS may not be the best metric to assess invasive monitoring patients (i.e., SEEG or SDG), and increased LOS does not necessarily equate with lower or negative institutional financial gain. Further research into LOS should focus on specific specialties, as each may differ in terms of financial implications. Wiley Periodicals, Inc. © 2017 International League Against Epilepsy.

  18. Increased gray matter volume of left pars opercularis in male orchestral musicians correlate positively with years of musical performance.

    Science.gov (United States)

    Abdul-Kareem, Ihssan A; Stancak, Andrej; Parkes, Laura M; Sluming, Vanessa

    2011-01-01

    To compare manual volumetry of gray matter (GM) / white matter (WM) of Broca's area subparts: pars opercularis (POP) and pars triangularis (PTR) in both hemispheres between musicians and nonmusician, as it has been shown that these regions are crucial for musical abilities. A previous voxel-based morphometric (VBM) study conducted in our laboratory reported increased GM density in Broca's area of left hemisphere in male orchestral musicians. Functional segregation of POP/PTR justified separate volumetric analysis of these parts. We used the same cohort for the VBM study. Manual morphometry (stereology) was used to compare volumes between 26/26 right-handed orchestral musicians/nonmusicians. As expected, musicians showed significantly increased GM volume in the Broca's area, specifically in the left POP. No significant results were detected in right POP, left/right PTR GM volumes, and WM volumes for all regions. Results were positively correlated with years of musical performance (r = 0.7, P = 0.0001). This result corroborates the VBM study and is in line with the hypothesis of critical involvement of POP in hearing-action integration being an integral component of frontoparietotemporal mirror neuron network. We hypothesize that increased size of musicians' left POP represent use-dependent structural adaptation in response to intensive audiomotor skill acquisition. Copyright © 2010 Wiley-Liss, Inc.

  19. Secondary syphilis in HIV positive individuals: correlation with histopathologic findings, CD4 counts, and quantity of treponemes in microscopic sections.

    Science.gov (United States)

    Rosa, Gabriela; Procop, Gary W; Schold, Jesse D; Piliang, Melissa P

    2016-10-01

    Although syphilis is uncommon, infection rates are much higher in HIV-infected individuals than the general population. A proposed explanation is impaired cellular immunity with HIV infection. A search of one institution yielded 10 patients with a diagnosis of secondary syphilis on skin biopsy, positive syphilis serology and available CD4 counts. We evaluated 11 biopsies from the 10 patients. We correlated the patients' CD4 counts with the histologic findings and with the number of treponemes on skin biopsies, highlighted by immunohistochemistry (IHC). We also compared the detection of spirochetes in silver stained sections (e.g. Warthin-Starry) with T. pallidum IHC. All biopsies were assessed for various histologic features. The sensitivity of IHC to detect treponemes was 64% and of silver stain was 9% (p-value 0.04). The number of treponemes on the biopsies was determined by IHC. High numbers of spirochetes (i.e. >100 per 10 hpf) were only seen in patients with CD4 counts less than 250 cells/ml. The most consistent histologic finding was a moderate to severe lymphoplasmacytic infiltrate. Although the study is small, it appears that a higher number of spirochetes is associated with CD4 counts less than 250 cell/ml. The T. pallidum IHC stain was vastly superior to the Warthin-Starry stain. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  20. High Frequency of CD8 Positive Lymphocyte Infiltration Correlates with Lack of Lymph Node Involvement in Early Rectal Cancer

    Directory of Open Access Journals (Sweden)

    Silvio Däster

    2014-01-01

    Full Text Available Aims. A trend towards local excision of early rectal cancers has prompted us to investigate if immunoprofiling might help in predicting lymph node involvement in this subgroup. Methods. A tissue microarray of 126 biopsies of early rectal cancer (T1 and T2 was stained for several immunomarkers of the innate and the adaptive immune response. Patients’ survival and nodal status were analyzed and correlated with infiltration of the different immune cells. Results. Of all tested markers, only CD8 (P=0.005 and TIA-1 (P=0.05 were significantly more frequently detectable in early rectal cancer biopsies of node negative as compared to node positive patients. Although these two immunomarkers did not display prognostic effect “per se,” CD8+ and, marginally, TIA-1 T cell infiltration could predict nodal involvement in univariate logistic regression analysis (OR 0.994; 95% CI 0.992–0.996; P=0.009 and OR 0.988; 95% CI 0.984–0.994; P=0.05, resp.. An algorithm significantly predicting the nodal status in early rectal cancer based on CD8 together with vascular invasion and tumor border configuration could be calculated (P<0.00001. Conclusion. Our data indicate that in early rectal cancers absence of CD8+ T-cell infiltration helps in predicting patients’ nodal involvement.

  1. Correlation of Positive and Negative Reciprocity Fails to Confer an Evolutionary Advantage: Phase Transitions to Elementary Strategies

    Directory of Open Access Journals (Sweden)

    Attila Szolnoki

    2013-11-01

    Full Text Available Economic experiments reveal that humans value cooperation and fairness. Punishing unfair behavior is therefore common, and according to the theory of strong reciprocity, it is also directly related to rewarding cooperative behavior. However, empirical data fail to confirm that positive and negative reciprocity are correlated. Inspired by this disagreement, we determine whether the combined application of reward and punishment is evolutionarily advantageous. We study a spatial public goods game, where in addition to the three elementary strategies of defection, rewarding, and punishment, a fourth strategy that combines the latter two competes for space. We find rich dynamical behavior that gives rise to intricate phase diagrams where continuous and discontinuous phase transitions occur in succession. Indirect territorial competition, spontaneous emergence of cyclic dominance, as well as divergent fluctuations of oscillations that terminate in an absorbing phase are observed. Yet, despite the high complexity of solutions, the combined strategy can survive only in very narrow and unrealistic parameter regions. Elementary strategies, either in pure or mixed phases, are much more common and likely to prevail. Our results highlight the importance of patterns and structure in human cooperation, which should be considered in future experiments.

  2. Dinoflagellate cyst abundance is positively correlated to sediment organic carbon in Sydney Harbour and Botany Bay, NSW, Australia.

    Science.gov (United States)

    Tian, Chang; Doblin, Martina A; Dafforn, Katherine A; Johnston, Emma L; Pei, Haiyan; Hu, Wenrong

    2018-02-01

    There is growing public concern about the global expansion of harmful algal bloom species (HABs), with dinoflagellate microalgae comprising the major portion of the harmful taxa. These motile, unicellular organisms have a lifecycle involving sexual reproduction and resting cyst formation whereby cysts can germinate from sediments and 'seed' planktonic populations. Thus, investigation of dinoflagellate cyst (dinocyst) distribution in sediments can provide significant insights into HAB dynamics and contribute to indices of habitat quality. Species composition and abundance of dinocysts in relation to sediment characteristics were studied at 18 stations in two densely populated temperate Australian estuaries, Sydney Harbour (Parramatta River/Port Jackson; PS) and Botany Bay (including Georges River; GB). Eighteen dinocyst taxa were identified, dominated by Protoceratium reticulatum and Gonyaulax sp.1 in the PS estuary, together with Archaeperidinium minutum and Gonyaulax sp.1 in the GB estuary. Cysts of Alexandrium catenella, which is one of the causative species of paralytic shellfish poisoning (PSP), were also detected in both estuaries. Out of the measured sediment characteristics (TOC, Cd, Cr, Cu, Fe, Pb, Mn, Ni, Zn and polycyclic aromatic hydrocarbons), TOC was the parameter explaining most of the variation in dinocyst assemblages and was positively correlated to most of the heavy metals. Given the significant relationship between sediment TOC and dinocyst abundance and heavy metal concentrations, this study suggests that sediment TOC could be broadly used in risk management for potential development of algal blooms and sediment contamination in these estuaries.

  3. Testing the prediction from sexual selection of a positive genetic correlation between human mate preferences and corresponding traits

    NARCIS (Netherlands)

    Verweij, K.J.H.; Burri, A.V.; Zietsch, B.P.

    2014-01-01

    Sexual selection can cause evolution in traits that affect mating success, and it has thus been implicated in the evolution of human physical and behavioural traits that influence attractiveness. We use a large sample of identical and nonidentical female twins to test the prediction from mate choice

  4. High heritability and genetic correlation of intravenous glucose- and tolbutamide-induced insulin secretion among non-diabetic family members of type 2 diabetic patients

    DEFF Research Database (Denmark)

    Gjesing, Anette Marianne Prior; Hornbak, Malene; Allin, Kristine H.

    2014-01-01

    ∈±∈SE: 0.49∈±∈0.14) and beta cell responsiveness to glucose (h 2∈±∈SE: 0.66∈±∈0.12). Additionally, strong genetic correlations were found between measures of beta cell response after glucose and tolbutamide stimulation, with correlation coefficients ranging from 0.77 to 0.88. Furthermore, we identified......Aims/hypothesis: The aim of this study was to estimate the heritability of quantitative measures of glucose regulation obtained from a tolbutamide-modified frequently sampled IVGTT (t-FSIGT) and to correlate the heritability of the glucose-stimulated beta cell response to the tolbutamide...... after tolbutamide (DIT), insulin sensitivity (SI), glucose effectiveness (SG) and beta cell responsiveness to glucose were calculated. A polygenic variance component model was used to estimate heritability, genetic correlations and associations. Results: We found high heritabilities for acute insulin...

  5. Correlation between genetic polymorphism of matrix metalloproteinase-9 in patients with coronary artery disease and cardiac remodeling.

    Science.gov (United States)

    Yu, Qibin; Li, Hanmei; Li, Linlin; Wang, Shaoye; Wu, Yongbo

    2015-01-01

    To explore the correlation between genetic polymorphism of matrix metalloproteinase-9 (MMP-9) in patients with coronary artery disease (CAD) and cardiac remodeling. A total of 272 subjects who received coronary angiography in our hospital from July 2008 to September 2013 were selected, including 172 CAD patients (CAD group) and another 100 ones (control group). Both groups were subjected to MMP-9 and ultrasonic detections to determine vascular remodeling and atherosclerotic plaques. C1562G polymorphism of MMP-9 gene was detected, and correlation with vascular remodeling and atherosclerotic plaque was analyzed. Serum MMP-9 level of CAD group (330.87±50.39 ng/ml) was significantly higher than that of control group (134.87±34.02 ng/ml) (P<0.05). Compared with control group, CAD group had significantly higher intima-media thickness, and significantly lower systolic peak velocity, mean systolic velocity and end-diastolic velocity (P<0.05). Total area of stenotic blood vessels was 67.34±22.98 mm(2), while that of control blood vessels was 64.00±20.83 mm(2). G/G, G/C and C/C genotype frequencies of MMP-9 differed significantly in the two groups (P<0.05). G and C allele frequencies of CAD group (70.9% and 29.1%) were significantly different from those of control group (50.0% and 50.0%) (P<0.05). G/G, G/C and C/C genotypes were manifested as lipid-rich, fibrous and calcified or ulcerated plaques respectively. Total area of stenotic blood vessels of G/G genotype significantly exceeded those of G/C and C/C genotypes (P<0.05), whereas the latter two had no significant differences. CAD promoted 1562C-G transformation of MMP-9 gene into genetic polymorphism, thus facilitating arterial remodeling and increasing unstable atherosclerotic plaques.

  6. Serum galectin-1 levels are positively correlated with body fat and negatively with fasting glucose in obese children.

    Science.gov (United States)

    Acar, Sezer; Paketçi, Ahu; Küme, Tuncay; Tuhan, Hale; Gürsoy Çalan, Özlem; Demir, Korcan; Böber, Ece; Abacı, Ayhan

    2017-09-01

    Galectin-1, a recently identified peptide, is primarily released from the adipose tissue. Although galectin-1 was shown to have an anti-inflammatory effect, its specific function is not clearly understood. We aimed to evaluate the relationship of serum galectin-1 levels with clinical and laboratory parameters in childhood obesity. A total of 45 obese children (mean age: 12.1±3.1years) and 35 normal-weight children (mean age: 11.8±2.2years) were enrolled. Clinical [body mass index (BMI), waist circumference (WC), percentage of body fat and blood pressure] and biochemical [glucose, insulin, lipids, galectin-1, high-sensitive C-reactive protein (hsCRP) and leptin levels] parameters were assessed. Serum galectin-1, hsCRP and leptin levels were significantly higher in obese children than those in normal-weight children (12.4 vs 10.2ng/mL, pobese children, galectin-1 levels correlated negatively with fasting glucose (r=-0.346, p=0.020) and positively with fat mass (r=0.326, p=0.026) and WC standard deviation score (SDS) (r=0.451, p=0.002). The multivariate regression analysis demonstrated that serum galectin-1 levels were significantly associated with fasting glucose and WC SDS. This study showed that obese children had significantly higher galectin-1 levels in proportion to fat mass in obese cases than those in healthy children, which may be interpreted as a compensatory increase in an attempt to improve glucose metabolism. Copyright © 2017 Elsevier Inc. All rights reserved.

  7. Measuring DHEA-S in saliva: time of day differences and positive correlations between two different types of collection methods

    Directory of Open Access Journals (Sweden)

    Klein Laura C

    2010-07-01

    Full Text Available Abstract Background The anabolic steroid, dehydroepiandosterone sulfate (DHEA-S, is secreted from the adrenal cortex. It plays a significant role in the body as a precursor to sex steroids as well as a lesser known role in the hypothalamic pituitary adrenal axis (HPA response to stress. DHEA-S can be measured reliably in saliva, making saliva collection a valuable tool for health research because it minimizes the need for invasive sampling procedures (e.g., blood draws. Typical saliva collection methods include the use of plain cotton swab collection devices (e.g., Salivette® or passive drool. There has been some speculation that the plain saliva cotton collection device may interfere with determination of DHEA-S by enzyme immunoassay (EIA bringing this saliva collection method into question. Because of the increasing popularity of salivary biomarker research, we sought to determine whether the cotton swab interferes with DHEA-S determination through EIA techniques. Findings Fifty-six healthy young adult men and women aged 18-30 years came to the lab in the morning (0800 hrs; 14 men, 14 women or late afternoon (1600 hrs; 14 men, 14 women and provided saliva samples via cotton Salivette and passive drool. Passive drool collection was taken first to minimize particle cross contamination from the cotton swab. Samples were assayed for DHEA-S in duplicate using a commercially available kit (DSL, Inc., Webster, TX. DHEA-S levels collected via Salivette and passive drool were positively correlated (r = + 0.83, p Conclusions Results suggest that DHEA-S can be measured accurately using passive drool or cotton Salivette collection methods. Results also suggest that DHEA-S levels change across the day and that future studies need to take this time of day difference into account when measuring DHEA-S.

  8. Support of positive association in family-based genetic analysis between COL27A1 and Tourette syndrome.

    Science.gov (United States)

    Liu, Shiguo; Yu, Xiaoxia; Xu, Quanchen; Cui, Jiajia; Yi, Mingji; Zhang, Xinhua; Ge, Yinlin; Ma, Xu

    2015-08-03

    Recently, a genome-wide association study has indicated associations between single nucleotide polymorphisms in the Collagen Type XXVII Alpha 1 gene (COL27A1) and Tourette syndrome in several ethnic populations. To clarify the global relevance of the previously identified SNPs in the development of Tourette syndrome, the associations between polymorphisms in COL27A1 and Tourette syndrome were assessed in Chinese trios. PCR-directed sequencing was used to evaluate the genetic contributions of three SNPs in COL27A1(rs4979356, rs4979357 and rs7868992) using haplotype relative risk (HRR) and transmission disequilibrium tests (TDT) with a total of 260 Tourette syndrome trios. The family-based association was significant between Tourette syndrome and rs4979356 (TDT: χ2 = 4.804, P = 0.033; HRR = 1.75, P = 0.002; HHRR = 1.32, P = 0.027), and transmission disequilibrium was suspected for rs4979357 (TDT: χ2 = 3.969, P = 0.053; HRR = 1.84, P = 0.001; HHRR = 1.29, P = 0.044). No statistically significant allele transfer was found for rs7868992 (TDT: χ2 = 2.177, P = 0.158). Although the TDT results did not remain significant after applying the conservative Bonferroni correction (p = 0.005), the significant positive HRR analysis confirmed the possibility of showing transmission disequilibrium, which provides evidence for an involvement of COL27A1in the development of TS. However, these results need to be verified with larger datasets from different populations.

  9. Development of a Recombination System for the Generation of Occlusion Positive Genetically Modified Anticarsia Gemmatalis Multiple Nucleopolyhedrovirus

    Directory of Open Access Journals (Sweden)

    Santiago Haase

    2015-03-01

    Full Text Available Anticarsia gemmatalis is an important pest in legume crops in South America and it has been successfully controlled using Anticarsia gemmatalis Multiple Nucleopolyhedrovirus (AgMNPV in subtropical climate zones. Nevertheless, in temperate climates its speed of kill is too slow. Taking this into account, genetic modification of AgMNPV could lead to improvements of its biopesticidal properties. Here we report the generation of a two-component system that allows the production of recombinant AgMNPV. This system is based on a parental AgMNPV in which the polyhedrin gene (polh was replaced by a bacterial β-galactosidase (lacZ gene flanked by two target sites for the homing endonuclease I-PpoI. Co-transfection of insect cells with linearized (I-PpoI-digested parental genome and a transfer vector allowed the restitution of polh and the expression of a heterologous gene upon homologous recombination, with a low background of non-recombinant AgMNPV. The system was validated by constructing a recombinant occlusion-positive (polh+ AgMNPV expressing the green fluorescent protein gene (gfp. This recombinant virus infected larvae normally per os and led to the expression of GFP in cell culture as well as in A. gemmatalis larvae. These results demonstrate that the system is an efficient method for the generation of recombinant AgMNPV expressing heterologous genes, which can be used for manifold purposes, including biotechnological and pharmaceutical applications and the production of orally infectious recombinants with improved biopesticidal properties.

  10. Genetic correlations between brain volumes and the WAIS-III dimensions of verbal comprehension, working memory, perceptual organization, and processing speed

    NARCIS (Netherlands)

    Posthuma, D.; Baare, W.F.C.; Hulshoff Pol, H.E.; Kahn, R.S.; Boomsma, D.I.; de Geus, E.J.C.

    2003-01-01

    We recently showed that the correlation of gray and white matter volume with full scale IQ and the Working Memory dimension are completely mediated by common genetic factors (Posthuma et al., 2002). Here we examine whether the other WAIS III dimensions (Verbal Comprehension, Perceptual Organization,

  11. Genetic variability, path-coefficient and correlation studies in twenty elite bread-wheat (triticum aestivum L.) lines

    International Nuclear Information System (INIS)

    Mujahid, M.Y.; Asif, M.; Ahmad, I.; Kisana, N.A.; Ahmad, Z.; Asim, M.

    2005-01-01

    Twenty bread-wheat elite lines of diverse origin, developed by various research institutes in the country, were tested and evaluated at National Agricultural Research Centre (NARC) under optimum irrigated conditions. Significant variation was observed for all the traits studied viz: days to heading, days to maturity, kernel weight, test weight and grain yield. Genotypic and phenotypic correlations were computed and the direct and indirect contributions of each trait towards grain-yield were determined. Grain-yield showed significant association with test weight and kernel weight. Direct positive effects of kernel weight and test weight towards grain-yield suggest the effectiveness of these traits to select and identify the desirable wheat- genotypes for a target environment. (author)

  12. Position statement on opportunistic genomic screening from the Association of Genetic Nurses and Counsellors (UK and Ireland)

    OpenAIRE

    Middleton, Anna; Patch, Chris; Wiggins, Jennifer; Barnes, Kathy; Crawford, Gill; Benjamin, Caroline; Bruce, Anita

    2014-01-01

    The American College of Medical Genetics and Genomics released recommendations for reporting incidental findings (IFs) in clinical exome and genome sequencing. These suggest ‘opportunistic genomic screening' should be available to both adults and children each time a sequence is done and would be undertaken without seeking preferences from the patient first. Should opportunistic genomic screening be implemented in the United Kingdom, the Association of Genetic Nurses and Counsellors (AGNC), w...

  13. Position statement on opportunistic genomic screening from the Association of Genetic Nurses and Counsellors (UK and Ireland).

    Science.gov (United States)

    Middleton, Anna; Patch, Chris; Wiggins, Jennifer; Barnes, Kathy; Crawford, Gill; Benjamin, Caroline; Bruce, Anita

    2014-08-01

    The American College of Medical Genetics and Genomics released recommendations for reporting incidental findings (IFs) in clinical exome and genome sequencing. These suggest 'opportunistic genomic screening' should be available to both adults and children each time a sequence is done and would be undertaken without seeking preferences from the patient first. Should opportunistic genomic screening be implemented in the United Kingdom, the Association of Genetic Nurses and Counsellors (AGNC), which represents British and Irish genetic counsellors and nurses, feels strongly that the following must be considered (see article for complete list): (1) Following appropriate genetic counselling, patients should be allowed to consent to or opt out of opportunistic genomic screening. (2) If true IFs are discovered the AGNC are guided by the report from the Joint Committee on Medical Genetics about the sharing of genetic testing results. (3) Children should not be routinely tested for adult-onset conditions. (4) The formation of a list of variants should involve a representative from the AGNC as well as a patient support group. (5) The variants should be for serious or life-threatening conditions for which there are treatments or preventative strategies available. (6) There needs to be robust evidence that the benefits of opportunistic screening outweigh the potential harms. (7) The clinical validity and utility of variants should be known. (8) There must be a quality assurance framework that operates to International standards for laboratory testing. (9) Psychosocial research is urgently needed in this area to understand the impact on patients.

  14. Laboratory and clinical genomic data sharing is crucial to improving genetic health care: a position statement of the American College of Medical Genetics and Genomics.

    Science.gov (United States)

    Acmg Board Of Directors

    2017-07-01

    Disclaimer: These recommendations are designed primarily as an educational resource for medical geneticists and other health-care providers, to help them provide quality medical genetic services. Adherence to these recommendations does not necessarily assure a successful medical outcome. These recommendations should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, the geneticist should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen. It may be prudent, however, to document in the patient's record the rationale for any significant deviation from these recommendations.Genet Med advance online publication 05 January 2017.

  15. Genetic correlations between brain volumes and the WAIS-III dimensions of verbal comprehension, working memory, perceptual organization, and processing speed.

    Science.gov (United States)

    Posthuma, Daniëlle; Baaré, Wim F C; Hulshoff Pol, Hilleke E; Kahn, René S; Boomsma, Dorret I; De Geus, Eco J C

    2003-04-01

    We recently showed that the correlation of gray and white matter volume with full scale IQ and the Working Memory dimension are completely mediated by common genetic factors (Posthuma et al., 2002). Here we examine whether the other WAIS III dimensions (Verbal Comprehension, Perceptual Organization, Processing Speed) are also related to gray and white matter volume, and whether any of the dimensions are related to cerebellar volume. Two overlapping samples provided 135 subjects from 60 extended twin families for whom both MRI scans and WAIS III data were available. All three brain volumes are related to Working Memory capacity (r = 0.27). This phenotypic correlation is completely due to a common underlying genetic factor. Processing Speed was genetically related to white matter volume (r(g) = 0.39). Perceptual Organization was both genetically (r(g) = 0.39) and environmentally (r(e) = -0.71) related to cerebellar volume. Verbal Comprehension was not related to any of the three brain volumes. It is concluded that brain volumes are genetically related to intelligence which suggests that genes that influence brain volume may also be important for intelligence. It is also noted however, that the direction of causation (i.e., do genes influence brain volume which in turn influences intelligence, or alternatively, do genes influence intelligence which in turn influences brain volume), or the presence or absence of pleiotropy has not been resolved yet.

  16. Untangling individual variation in natural populations: ecological, genetic and epigenetic correlates of long-term inequality in herbivory.

    Science.gov (United States)

    Herrera, C M; Bazaga, P

    2011-04-01

    Individual variation in ecologically important features of organisms is a crucial element in ecology and evolution, yet disentangling its underlying causes is difficult in natural populations. We applied a genomic scan approach using amplified fragment length polymorphism (AFLP) markers to quantify the genetic basis of long-term individual differences in herbivory by mammals at a wild population of the violet Viola cazorlensis monitored for two decades. In addition, methylation-sensitive amplified polymorphism (MSAP) analyses were used to investigate the association between browsing damage and epigenetic characteristics of individuals, an aspect that has been not previously explored for any wild plant. Structural equation modelling was used to identify likely causal structures linking genotypes, epigenotypes and herbivory. Individuals of V. cazorlensis differed widely in the incidence of browsing mammals over the 20-year study period. Six AFLP markers (1.6% of total) were significantly related to herbivory, accounting altogether for 44% of population-wide variance in herbivory levels. MSAP analyses revealed considerable epigenetic variation among individuals, and differential browsing damage was significantly related to variation in multilocus epigenotypes. In addition, variation across plants in epigenetic characteristics was related to variation in several herbivory-related AFLP markers. Statistical comparison of alternative causal models suggested that individual differences in herbivory are the outcome of a complex causal structure where genotypes and epigenotypes are interconnected and have direct and indirect effects on herbivory. Insofar as methylation states of MSAP markers influential on herbivory are transgenerationally heritable, herbivore-driven evolutionary changes at the study population will involve correlated changes in genotypic and epigenotypic distributions. © 2011 Blackwell Publishing Ltd.

  17. Positive schizotypy scores correlate with left visual field interference for negatively valenced emotional words: A lateralized emotional stroop study

    NARCIS (Netherlands)

    Strien, J.W.; van Kampen, D.

    2010-01-01

    Fourteen men scoring high and 14 men scoring low on a positive schizotypy scale participated in a lateralized emotional Stroop task. Vocal reaction times for color naming of neutral, positive and negative emotional words were recorded. Across participants, the color naming of neutral and emotional

  18. Tackler’s head position relative to the ball carrier is highly correlated with head and neck injuries in rugby

    Science.gov (United States)

    Hasegawa, Yoshinori; Shiota, Yuki; Ota, Chihiro; Yoneda, Takeshi; Tahara, Shigeyuki; Maki, Nobukazu; Matsuura, Takahiro; Sekiguchi, Masahiro; Itoigawa, Yoshiaki; Tateishi, Tomohiko; Kaneko, Kazuo

    2018-01-01

    Objectives To characterise the tackler’s head position during one-on-one tackling in rugby and to determine the incidence of head, neck and shoulder injuries through analysis of game videos, injury records and a questionnaire completed by the tacklers themselves. Methods We randomly selected 28 game videos featuring two university teams in competitions held in 2015 and 2016. Tackles were categorised according to tackler’s head position. The ‘pre-contact phase’ was defined; its duration and the number of steps taken by the ball carrier prior to a tackle were evaluated. Results In total, 3970 tackles, including 317 (8.0%) with the tackler’s head incorrectly positioned (ie, in front of the ball carrier) were examined. Thirty-two head, neck or shoulder injuries occurred for an injury incidence of 0.8% (32/3970). The incidence of injury in tackles with incorrect head positioning was 69.4/1000 tackles; the injury incidence with correct head positioning (ie, behind or to one side of the ball carrier) was 2.7/1000 tackles. Concussions, neck injuries, ‘stingers’ and nasal fractures occurred significantly more often during tackles with incorrect head positioning than during tackles with correct head positioning. Significantly fewer steps were taken before tackles with incorrect head positioning that resulted in injury than before tackles that did not result in injury. Conclusion Tackling with incorrect head position relative to the ball carrier resulted in a significantly higher incidence of concussions, neck injuries, stingers and nasal fractures than tackling with correct head position. Tackles with shorter duration and distance before contact resulted in more injuries. PMID:29162618

  19. Seasonality shows evidence for polygenic architecture and genetic correlation with schizophrenia and bipolar disorder – a meta-analysis of genetic studies

    Science.gov (United States)

    Byrne, Enda M; Raheja, Uttam; Stephens, Sarah H.; Heath, Andrew C; Madden, Pamela AF; Vaswani, Dipika; Nijjar, Gagan V.; Ryan, Kathleen A.; Youssufi, Hassaan; Gehrman, Philip R; Shuldiner, Alan R; Martin, Nicholas G; Montgomery, Grant W; Wray, Naomi R; Nelson, Elliot C; Mitchell, Braxton D; Postolache, Teodor T

    2015-01-01

    Objective To test common genetic variants for association with seasonality (seasonal changes in mood and behavior) and to investigate whether there are shared genetic risk factors between psychiatric disorders and seasonality. Methods A meta-analysis of genome-wide association studies (GWAS) conducted in Australian and Amish populations in whom the Seasonal Pattern Assessment Questionnaire (SPAQ) had been administered. The total sample size was 4,156 individuals. Genetic risk scores based on results from prior large GWAS studies of bipolar disorder (BD), major depressive disorder (MDD), and schizophrenia (SCZ) were calculated to test for overlap in risk between psychiatric disorders and seasonality. Results The most significant association was with rs11825064 (p = 1.7 × 10−6, β = 0.64, S.E = 0.13), an intergenic SNP found on chromosome 11. The evidence for overlap in risk factors was strongest for SCZ and seasonality, with the SCZ genetic profile scores explaining 3% of the variance in log-transformed GSS. BD genetic profile scores were also significantly associated with seasonality, although at much weaker levels, and no evidence for overlap in risk was detected between MDD and seasonality. Conclusions Common SNPs of very large effect likely do not exist for seasonality in the populations examined. As expected, there was overlapping genetic risk factors for BD (but not MDD) with seasonality. Unexpectedly, the risk for SCZ and seasonality had the largest overlap, an unprecedented finding that requires replication in other populations, and has potential clinical implications considering overlapping cognitive deficits in seasonal affective disorders and SCZ PMID:25562672

  20. Contribution of Genetic Background, Traditional Risk Factors, and HIV-Related Factors to Coronary Artery Disease Events in HIV-Positive Persons

    Science.gov (United States)

    Rotger, Margalida; Glass, Tracy R.; Junier, Thomas; Lundgren, Jens; Neaton, James D.; Poloni, Estella S.; van 't Wout, Angélique B.; Lubomirov, Rubin; Colombo, Sara; Martinez, Raquel; Rauch, Andri; Günthard, Huldrych F.; Neuhaus, Jacqueline; Wentworth, Deborah; van Manen, Danielle; Gras, Luuk A.; Schuitemaker, Hanneke; Albini, Laura; Torti, Carlo; Jacobson, Lisa P.; Li, Xiuhong; Kingsley, Lawrence A.; Carli, Federica; Guaraldi, Giovanni; Ford, Emily S.; Sereti, Irini; Hadigan, Colleen; Martinez, Esteban; Arnedo, Mireia; Egaña-Gorroño, Lander; Gatell, Jose M.; Law, Matthew; Bendall, Courtney; Petoumenos, Kathy; Rockstroh, Jürgen; Wasmuth, Jan-Christian; Kabamba, Kabeya; Delforge, Marc; De Wit, Stephane; Berger, Florian; Mauss, Stefan; de Paz Sierra, Mariana; Losso, Marcelo; Belloso, Waldo H.; Leyes, Maria; Campins, Antoni; Mondi, Annalisa; De Luca, Andrea; Bernardino, Ignacio; Barriuso-Iglesias, Mónica; Torrecilla-Rodriguez, Ana; Gonzalez-Garcia, Juan; Arribas, José R.; Fanti, Iuri; Gel, Silvia; Puig, Jordi; Negredo, Eugenia; Gutierrez, Mar; Domingo, Pere; Fischer, Julia; Fätkenheuer, Gerd; Alonso-Villaverde, Carlos; Macken, Alan; Woo, James; McGinty, Tara; Mallon, Patrick; Mangili, Alexandra; Skinner, Sally; Wanke, Christine A.; Reiss, Peter; Weber, Rainer; Bucher, Heiner C.; Fellay, Jacques; Telenti, Amalio; Tarr, Philip E.

    2013-01-01

    Background Persons infected with human immunodeficiency virus (HIV) have increased rates of coronary artery disease (CAD). The relative contribution of genetic background, HIV-related factors, antiretroviral medications, and traditional risk factors to CAD has not been fully evaluated in the setting of HIV infection. Methods In the general population, 23 common single-nucleotide polymorphisms (SNPs) were shown to be associated with CAD through genome-wide association analysis. Using the Metabochip, we genotyped 1875 HIV-positive, white individuals enrolled in 24 HIV observational studies, including 571 participants with a first CAD event during the 9-year study period and 1304 controls matched on sex and cohort. Results A genetic risk score built from 23 CAD-associated SNPs contributed significantly to CAD (P = 2.9×10−4). In the final multivariable model, participants with an unfavorable genetic background (top genetic score quartile) had a CAD odds ratio (OR) of 1.47 (95% confidence interval [CI], 1.05–2.04). This effect was similar to hypertension (OR = 1.36; 95% CI, 1.06–1.73), hypercholesterolemia (OR = 1.51; 95% CI, 1.16–1.96), diabetes (OR = 1.66; 95% CI, 1.10–2.49), ≥1 year lopinavir exposure (OR = 1.36; 95% CI, 1.06–1.73), and current abacavir treatment (OR = 1.56; 95% CI, 1.17–2.07). The effect of the genetic risk score was additive to the effect of nongenetic CAD risk factors, and did not change after adjustment for family history of CAD. Conclusions In the setting of HIV infection, the effect of an unfavorable genetic background was similar to traditional CAD risk factors and certain adverse antiretroviral exposures. Genetic testing may provide prognostic information complementary to family history of CAD. PMID:23532479

  1. Correlated Dirac semimetallic state with unusual positive magnetoresistance in strain-free perovskite SrIrO3

    Science.gov (United States)

    Fujioka, J.; Okawa, T.; Yamamoto, A.; Tokura, Y.

    2017-03-01

    We investigated magnetotransport properties and charge dynamics of strain-free perovskite SrIrO3. Both the longitudinal and transverse magnetoresistivity (MR) are significantly enhanced with decreasing temperature, in accord with the evolution of the Dirac semimetallic state. The electron correlation effect in the Dirac state shows up as a dramatic change in charge dynamics with temperature and as an enhanced paramagnetic susceptibility. We propose that the field-induced topological transition of the Dirac node coupled to the enhanced paramagnetism causes the unique MR of correlated Dirac electrons.

  2. High energy electron radiography system design and simulation study of beam angle-position correlation and aperture effect on the images

    International Nuclear Information System (INIS)

    Zhao, Quantang; Cao, S.C.; Liu, M.; Sheng, X.K.; Wang, Y.R.; Zong, Y.; Zhang, X.M.; Jing, Y.; Cheng, R.; Zhao, Y.T.; Zhang, Z.M.; Du, Y.C.; Gai, W.

    2016-01-01

    A beam line dedicated to high-energy electron radiography experimental research with linear achromat and imaging lens systems has been designed. The field of view requirement on the target and the beam angle-position correlation correction can be achieved by fine-tuning the fields of the quadrupoles used in the achromat in combination with already existing six quadrupoles before the achromat. The radiography system is designed by fully considering the space limitation of the laboratory and the beam diagnostics devices. Two kinds of imaging lens system, a quadruplet and an octuplet system are integrated into one beam line with the same object plane and image plane but with different magnification factor. The beam angle-position correlation on the target required by the imaging lens system and the aperture effect on the images are studied with particle tracking simulation. It is shown that the aperture position is also correlated to the beam angle-position on the target. With matched beam on the target, corresponding aperture position and suitable aperture radius, clear pictures can be imaged by both lens systems. The aperture is very important for the imaging. The details of the beam optical requirements, optimized parameters and the simulation results are presented.

  3. Types of work-family interface: well-being correlates of negative and positive spillover between work and family.

    Science.gov (United States)

    Kinnunen, Ulla; Feldt, Taru; Geurts, Sabine; Pulkkinen, Lea

    2006-04-01

    The aim of the present study was to test the structure of the work-family interface measure, which was intended to take into account both the positive and negative spillover between work and family demands in both directions. In addition, the links among the types of work-family spillover and the subjects' general and domain-specific well-being were examined. The sample (n = 202) consisted of Finnish employees, aged 42, who had a spouse/partner. Confirmatory factor analyses indicated that a four-factor model, including negative work-to-family spillover, negative family-to-work spillover, positive work-to-family spillover, and positive family-to-work spillover, was superior compared to the other factor models examined. Path analysis showed, as hypothesized, that the negative work-to-family spillover was most strongly related to low well-being at work (job exhaustion) and next strongly to low general well-being (psychological distress), whereas the negative family-to-work spillover was associated with low well-being in the domain of family (marital dissatisfaction). Positive work-to-family spillover was positively related both to well-being at work and general well-being. Inconsistent with our expectations, positive family-to-work spillover was not directly related to any of the well-being indicators examined.

  4. Preoperative apolipoprotein CI levels correlate positively with the proinflammatory response in patients experiencing endotoxemia following elective cardiac surgery

    NARCIS (Netherlands)

    Schippers, E.F.; Berbée, J.F.P.; Disseldorp, I.M. van; Versteegh, M.I.M.; Havekes, L.M.; Rensen, P.C.N.; Dissel, J.T. van

    2008-01-01

    Objective: Experimental models show that apolipoprotein CI (apoCI) binds and enhances the inflammatory response to endotoxin. We studied in patients undergoing cardiopulmonary bypass surgery (CPB) and experiencing endotoxemia during reperfusion whether plasma apoCI levels correlate with the

  5. Stability in and correlation between factors influencing genetic quality of seed lots in seed orchard of Pinus tabuliformis Carr. over a 12-year span.

    Directory of Open Access Journals (Sweden)

    Wei Li

    Full Text Available Coniferous seed orchards require a long period from initial seed harvest to stable seed production. Differential reproductive success and asynchrony are among the main factors for orchard crops year-to-year variation in terms of parental gametic contribution and ultimately the genetic gain. It is fundamental in both making predictions about the genetic composition of the seed crop and decisions about orchard roguing and improved seed orchard establishment. In this paper, a primary Chinese pine seed orchard with 49 clones is investigated for stability, variation and correlation analysis of factors which influence genetic quality of the seed lots from initial seed harvest to the stable seed production over a 12 years span. Results indicated that the reproductive synchrony index of pollen shedding has shown to be higher than that of the strobili receptivity, and both can be drastically influenced by the ambient climate factors. Reproductive synchrony index of the clones has certain relative stability and it could be used as an indication of the seed orchard status during maturity stage; clones in the studied orchard have shown extreme differences in terms of the gametic and genetic contribution to the seed crop at the orchard's early production phase specifically when they severe as either female or male parents. Those differences are closely related to clonal sex tendency at the time of orchard's initial reproduction. Clonal gamete contribution as male and female parent often has a negative correlation. Clone utilization as pollen, seed or both pollen and seed donors should consider the role it would play in the seed crop; due to numerous factors influencing on the mating system in seed orchards, clonal genetic contribution as male parent is uncertain, and it has major influence on the genetic composition in the seed orchard during the initial reproductive and seed production phase.

  6. [Correlation between the genetic polymorphisms of apolipoprotein M with the susceptibility to rheumatic diseases of Chinese Han populastion in Lanzhou].

    Science.gov (United States)

    Li, Meiyong; Guo, Xinling; Li, Qiannan; You, Chongge

    2016-08-01

    Objective To investigate the relationship between the genetic polymorphisms of apolipoprotein M (ApoM) and the susceptibility to rheumatoid arthritis (RA), systemic lupus erythematosus (SLE) and ankylosing spondylitis (AS) among Chinese Han population in Lanzhou. Methods Primers for the two single nucleotide polymorphism (SNP) sites (rs805296 and rs805297) in ApoM gene were designed and their genotyping methods of polymerase chain reaction-high resolution melting (PCR-HRM) assay were established. Case-control studies were performed among the 599 cases of RA, 194 cases of SLE, 179 cases of AS and 273 matched healthy controls to analyze the correlations between the two SNPs and the susceptibility to rheumatic diseases. Results The genotype frequencies of rs805296 were AA 87.0%, AG 12.7%, GG 0.3% in RA cases, AA 84.5%, AG 15.0%, GG 0.5% in SLE cases, AA 91.6%, AG 7.3%, GG 1.1% in AS cases, AA 85.0%, AG 15.0%, GG 0% in healthy controls. The ones of rs805297 were GG 38.2%, GT 51.8%, TT 10.0% in RA cases, GG 44.3%, GT 45.4%, TT 10.3% in SLE cases, GG 37.4%, GT 47.5%, TT 15.1% in AS cases, GG 40.7%, GT 46.1%, TT 13.2% in healthy controls. Statistical analyses showed that only the genotype distribution of rs805296 was significantly different between the AS cases and the healthy controls. Under the dominant model, the G allele carriers of rs805296 (AG heterozygote and GG homozygote) were found to significantly decrease the risk for AS development. Conclusion The established PCR-HRM genotyping assays in the present study can successfully achieve the molecular diagnosis of the two SNPs sites (rs805296 and rs805297) from clinical samples, and the study found a significant association between the SNP of rs805296 and the susceptibility to AS among Chinese Han population in Lanzhou.

  7. Measurement of the length and position of the lower oesophageal sphincter by correlation of external measurements and radiographic estimations in dogs

    International Nuclear Information System (INIS)

    Waterman, A.E.; Hashim, M.A.

    1991-01-01

    Fifty dogs were investigated in order to correlate the length and position of the lower oesophageal sphincter (LOS) with external measurements. Various external measurements were taken while the dogs were anaesthetised and positioned in lateral recumbency. An oesophageal tube was then introduced into the oesophagus and thoracic radiographs were taken. The 'real internal length of the oesophagus' was calculated as the length from the lower jaw incisor tooth to the position of the oesophageal tube at the costal border of the diaphragm. A highly significant linear correlation was found between this internal length and the external length from lower jaw incisor tooth to the anterior border of the head of the 10th rib. Using oesophageal manometry, the length and position of the LOS was also studied in 25 clinically normal bitches. The mean length of the LOS was found to be 4.6 +/- 0.92 cm. The position of the LOS was a mean of 4.4 +/- 1.69 cm cranial to the costal border of the diaphragm. The findings of this study indicate that the external measurements can be used to position catheters for accurate oesophageal manometry in the dog

  8. Effects of correlations between particle longitudinal positions and transverse plane on bunch length measurement: a case study on GBS electron LINAC at ELI-NP

    Science.gov (United States)

    Sabato, L.; Arpaia, P.; Cianchi, A.; Liccardo, A.; Mostacci, A.; Palumbo, L.; Variola, A.

    2018-02-01

    In high-brightness LINear ACcelerators (LINACs), electron bunch length can be measured indirectly by a radio frequency deflector (RFD). In this paper, the accuracy loss arising from non-negligible correlations between particle longitudinal positions and the transverse plane (in particular the vertical one) at RFD entrance is analytically assessed. Theoretical predictions are compared with simulation results, obtained by means of ELEctron Generation ANd Tracking (ELEGANT) code, in the case study of the gamma beam system (GBS) at the extreme light infrastructure—nuclear physics (ELI-NP). In particular, the relative error affecting the bunch length measurement, for bunches characterized by both energy chirp and fixed correlation coefficients between longitudinal particle positions and the vertical plane, is reported. Moreover, the relative error versus the correlation coefficients is shown for fixed RFD phase 0 rad and π rad. The relationship between relative error and correlations factors can help the decision of using the bunch length measurement technique with one or two vertical spot size measurements in order to cancel the correlations contribution. In the case of the GBS electron LINAC, the misalignment of one of the quadrupoles before the RFD between  -2 mm and 2 mm leads to a relative error less than 5%. The misalignment of the first C-band accelerating section between  -2 mm and 2 mm could lead to a relative error up to 10%.

  9. Life extension and the position of the hormetic zone depends on sex and genetic background in Drosophila melanogaster

    DEFF Research Database (Denmark)

    Sarup, Pernille Merete; Loeschcke, Volker

    2011-01-01

    but not in females. Here we investigated the interaction between the hormetic response and genetic background, sex and duration of a mild heat stress in D. melanogaster, using three replicate lines that have been selected for increased longevity and their respective control lines. We found that genetic background......Hormesis, the beneficial effect of a mild stress, has been proposed as a means to prolong the period of healthy ageing as it can increase the average lifespan of a cohort. However, if we want to use hormesis therapeutically it is important that the treatment is beneficial on the individual level...... and not just on average at the population level. Long lived lines have been shown not to benefit from a, in other lines, hormesis inducing heat treatment in Drosophila melanogaster, D. buzzatii and mice. Also in many experiments hormesis has been reported to occur in one sex only, usually males...

  10. Types of work-family interface: well-being correlates of negative and positive spillover between work and family

    NARCIS (Netherlands)

    Kinnunen, U.; Feldt, T.; Geurts, S.A.E.; Pulkkinen, L.

    2006-01-01

    The aim of the present study was to test the structure of the work-family interface measure, which was intended to take into account both the positive and negative spillover between work and family demands in both directions. In addition, the links among the types of work-family spillover and the

  11. High serum coenzyme Q10, positively correlated with age, selenium and cholesterol, in Inuit of Greenland. A pilot study

    DEFF Research Database (Denmark)

    Pedersen, H S; Mortensen, S A; Rohde, M

    1999-01-01

    .001) compared to a Danish population. In a linear multiple regression model the S-CoQ10 level is significantly positively associated with age and S-selenium in males, and S-total cholesterol in females. The high level of CoQ10 in Greenlanders probably reflects diet, since no bioaccumulation takes place...

  12. Siblings of Individuals with Smith-Magenis Syndrome: An Investigation of the Correlates of Positive and Negative Behavioural Traits

    Science.gov (United States)

    Moshier, M. S.; York, T. P.; Silberg, J. L.; Elsea, S. H.

    2012-01-01

    Background: Smith-Magenis syndrome (SMS) is a neurodevelopmental disorder that affects approximately one out of 25 000 births worldwide. To date, no research has been conducted to investigate how having an individual with SMS in a family is a positive or negative influence on siblings. Methods: To investigate this question we conducted a study…

  13. Positive expression of p53, c-erbB2 and MRP proteins is correlated with survival rates of NSCLC patients.

    Science.gov (United States)

    Xu, Yujin; Wang, Liancong; Zheng, Xiao; Liu, Guan; Wang, Yuezhen; Lai, Xiaojing; Li, Jianqiang

    2013-05-01

    The incidence of lung cancer is one of the leading causes of mortality. This study aimed to investigate the prognostic and predictive importance of p53, c-erbB2 and multidrug resistance proteins (MRP) expression and its correlation with clinicopathological characteristics of patients with non-small cell lung cancer (NSCLC). Expression of p53, c-erbB2 and MRP proteins in 152 tumor samples from resected primary NSCLCs was detected by immunohistochemical staining. The correlation of proteins, survival and clinicopathological characteristics was investigated in 152 patients undergoing potentially curative surgery. The positive rates of p53, c-erbB2 and MRP expression were 53.9 (82/152), 44.1 (67/152) and 43.4% (66/152), respectively. Overall survival rates of patients were markedly correlated with the overexpression of p53, c-erbB2 and MRP proteins. One, 2- and 3-year survival rates of patients exhibiting a positive expression of these proteins were 72.6, 54.8 and 32.2%, respectively. These rates were lower compared with those of patients with a negative expression of these proteins (92.1, 78.5 and 63.4%) (P=0.02, 0.01 or 0.00, respectively). Results of Cox's regression analysis showed that c-erbB2 expression and cell differentiation were independent prognostic factors in patients with NSCLC. These findings suggest that the positive expression of p53, c-erbB2 and MRP proteins is correlated with the survival rates of NSCLC patients. Detection of positive p53, c-erbB2 and MRP expression may be a useful predictive indicator of prognosis. Positive c-erbB2 expression is an independent prognostic factor, with a potential to be used as a predictive indicator of chemotherapy efficacy in NSCLC patients.

  14. Demographic History and Reproductive Output Correlates with Intraspecific Genetic Variation in Seven Species of Indo-Pacific Mangrove Crabs.

    Directory of Open Access Journals (Sweden)

    Sara Fratini

    Full Text Available The spatial distribution and the amount of intraspecific genetic variation of marine organisms are strongly influenced by many biotic and abiotic factors. Comparing biological and genetic data characterizing species living in the same habitat can help to elucidate the processes driving these variation patterns. Here, we present a comparative multispecies population genetic study on seven mangrove crabs co-occurring in the West Indian Ocean characterized by planktotrophic larvae with similar pelagic larval duration. Our main aim was to investigate whether a suite of biological, behavioural and ecological traits could affect genetic diversities of the study species in combination with historical demographic parameters. As possible current explanatory factors, we used the intertidal micro-habitat colonised by adult populations, various parameters of individual and population fecundity, and the timing of larval release. As the genetic marker, we used partial sequences of cytochrome oxidase subunit I gene. Genetic and ecological data were collected by the authors and/or gathered from primary literature. Permutational multiple regression models and ANOVA tests showed that species density and their reproductive output in combination with historical demographic parameters could explain the intraspecific genetic variation indexes across the seven species. In particular, species producing consistently less eggs per spawning event showed higher values of haplotype diversity. Moreover, Tajima's D parameters well explained the recorded values for haplotype diversity and average γst. We concluded that current intraspecific gene diversities in crabs inhabiting mangrove forests were affected by population fecundity as well as past demographic history. The results were also discussed in terms of management and conservation of fauna in the Western Indian Ocean mangroves.

  15. Demographic History and Reproductive Output Correlates with Intraspecific Genetic Variation in Seven Species of Indo-Pacific Mangrove Crabs.

    Science.gov (United States)

    Fratini, Sara; Ragionieri, Lapo; Cannicci, Stefano

    2016-01-01

    The spatial distribution and the amount of intraspecific genetic variation of marine organisms are strongly influenced by many biotic and abiotic factors. Comparing biological and genetic data characterizing species living in the same habitat can help to elucidate the processes driving these variation patterns. Here, we present a comparative multispecies population genetic study on seven mangrove crabs co-occurring in the West Indian Ocean characterized by planktotrophic larvae with similar pelagic larval duration. Our main aim was to investigate whether a suite of biological, behavioural and ecological traits could affect genetic diversities of the study species in combination with historical demographic parameters. As possible current explanatory factors, we used the intertidal micro-habitat colonised by adult populations, various parameters of individual and population fecundity, and the timing of larval release. As the genetic marker, we used partial sequences of cytochrome oxidase subunit I gene. Genetic and ecological data were collected by the authors and/or gathered from primary literature. Permutational multiple regression models and ANOVA tests showed that species density and their reproductive output in combination with historical demographic parameters could explain the intraspecific genetic variation indexes across the seven species. In particular, species producing consistently less eggs per spawning event showed higher values of haplotype diversity. Moreover, Tajima's D parameters well explained the recorded values for haplotype diversity and average γst. We concluded that current intraspecific gene diversities in crabs inhabiting mangrove forests were affected by population fecundity as well as past demographic history. The results were also discussed in terms of management and conservation of fauna in the Western Indian Ocean mangroves.

  16. Brain Oscillatory Correlates of Altered Executive Functioning in Positive and Negative Symptomatic Schizophrenia Patients and Healthy Controls.

    Science.gov (United States)

    Berger, Barbara; Minarik, Tamas; Griesmayr, Birgit; Stelzig-Schoeler, Renate; Aichhorn, Wolfgang; Sauseng, Paul

    2016-01-01

    Working Memory and executive functioning deficits are core characteristics of patients suffering from schizophrenia. Electrophysiological research indicates that altered patterns of neural oscillatory mechanisms underpinning executive functioning are associated with the psychiatric disorder. Such brain oscillatory changes have been found in local amplitude differences at gamma and theta frequencies in task-specific cortical areas. Moreover, interregional interactions are also disrupted as signified by decreased phase coherence of fronto-posterior theta activity in schizophrenia patients. However, schizophrenia is not a one-dimensional psychiatric disorder but has various forms and expressions. A common distinction is between positive and negative symptomatology but most patients have both negative and positive symptoms to some extent. Here, we examined three groups-healthy controls, predominantly negative, and predominantly positive symptomatic schizophrenia patients-when performing a working memory task with increasing cognitive demand and increasing need for executive control. We analyzed brain oscillatory activity in the three groups separately and investigated how predominant symptomatology might explain differences in brain oscillatory patterns. Our results indicate that differences in task specific fronto-posterior network activity (i.e., executive control network) expressed by interregional phase synchronization are able to account for working memory dysfunctions between groups. Local changes in the theta and gamma frequency range also show differences between patients and healthy controls, and more importantly, between the two patient groups. We conclude that differences in oscillatory brain activation patterns related to executive processing can be an indicator for positive and negative symptomatology in schizophrenia. Furthermore, changes in cognitive and especially executive functioning in patients are expressed by alterations in a task-specific fronto

  17. Resting venous plasma adrenalin in 70-year-old men correlated positively to survival in a population study: the significance of the physical working capacity

    DEFF Research Database (Denmark)

    Christensen, Niels Juel; Schultz-Larsen, K

    1994-01-01

    in a comprehensive medical examination. INTERVENTIONS. Plasma NA and A were measured in blood samples collected after the subjects had rested in the supine position for 15 min. The subjects have now been followed for 7 years. MAIN OUTCOME MEASURES. Seven years later, 115 men and 63 women had died. RESULTS. Cox...... of physical working capacity was included in the Cox regression analysis, both plasma NA and plasma A became insignificant, whereas a strong positive correlation appeared between physical working capacity and survival (P

  18. Correlation between HBsAg, prothrombin time activity, and indocyanine green retention rate at 15 minutes in patients with HBeAg-positive chronic HBV infection

    Directory of Open Access Journals (Sweden)

    FAN Wenhai

    2016-11-01

    Full Text Available ObjectiveTo investigate the correlation between HBsAg, prothrombin time activity (PTA, and indocyanine green retention rate at 15 minutes (ICG R15 in patients with HBeAg-positive chronic HBV infection. MethodsA total of 92 patients with HBeAg-positive chronic HBV infection who were admitted to The First Hospital of Lanzhou University from December 2015 to April 2016 were enrolled and divided into chronic hepatitis B (CHB group (24 patients, compensated liver cirrhosis group (38 patients, and decompensated liver cirrhosis group (30 patients. Serum HBsAg quantitation, PTA test, and liver reserve function test (ICG R15 were performed for all patients. The chi-square test was used for comparison of categorical data between groups, an analysis of variance was used for comparison of continuous data between multiple groups, and a Pearson correlation analysis was also performed. ResultsThere were significant differences between the three groups in serum HBsAg quantitation (3.82±0.43 log10IU/ml vs 2.88±0.36 log10IU/ml vs 2.60±0.27 log10IU/ml, F=25.19, P<0.001, ICG R15 (7.51%±3.10% vs 9.57%±8.18% vs 24.13%±14.28%, F=24.00, P=0.001, and PTA (8100%±1762% vs 83.08%±9.64% vs 62.32%±16.90%, F=13.42, P=0.009. The correlation analysis showed that PTA was negatively correlated with ICG R15 in all three groups (r=-0.948, -0.602, and -0.735, all P<0.01. In the compensated liver cirrhosis group and decompensated liver cirrhosis group, HBsAg was positively correlated with PTA (r=0.410 and 0.473, both P<0.05 and negatively correlated with ICG R15 (r=-0.427 and -0.768, P<0.01. ConclusionIn HBeAg positive patients, there are certain correlations between HBsAg, PTA, and ICG R15, which, to a certain degree, reflects the liver reserve function in patients with chronic HBV infection.

  19. Genomic selection strategies in breeding programs: Strong positive interaction between application of genotypic information and intensive use of young bulls on genetic gain

    DEFF Research Database (Denmark)

    Buch, Line Hjortø; Sørensen, Morten Kargo; Berg, Peer

    2012-01-01

    We tested the following hypotheses: (i) breeding schemes with genomic selection are superior to breeding schemes without genomic selection regarding annual genetic gain of the aggregate genotype (ΔGAG), annual genetic gain of the functional traits and rate of inbreeding per generation (ΔF), (ii......) a positive interaction exists between the use of genotypic information and a short generation interval on ΔGAG and (iii) the inclusion of an indicator trait in the selection index will only result in a negligible increase in ΔGAG if genotypic information about the breeding goal trait is known. We examined......, greater contributions of the functional trait to ΔGAG and lower ΔF than the two breeding schemes without genomic selection. Thus, the use of genotypic information may lead to more sustainable breeding schemes. In addition, a short generation interval increases the effect of using genotypic information...

  20. Direct Correlation of Cell Toxicity to Conformational Ensembles of Genetic Aβ Variants

    DEFF Research Database (Denmark)

    Somavarapu, Arun Kumar; Kepp, Kasper Planeta

    2015-01-01

    We report a systematic analysis of conformational ensembles generated from multiseed molecular dynamics simulations of all 15 known genetic variants of Aβ42. We show that experimentally determined variant toxicities are largely explained by random coil content of the amyloid ensembles (correlatio...

  1. Can a genetic correlation with seed mass constrain adaptive evolution of seedling desiccation tolerance in wild barley?

    NARCIS (Netherlands)

    Verhoeven, K.J.F.; Biere, A.; Nevo, E.; Van Damme, J.M.M.

    2004-01-01

    Very young seedlings of wild barley Hordeum spontaneum have the ability to survive extended periods of severe drought. This desiccation tolerance is considered an adaptation to the rain-limited and unpredictable habitats that the species occupies. Genetic variation has been observed for this trait,

  2. Genetic correlation analysis suggests association between increased self reported sleep duration in adults and schizophrenia and type 2 diabetes

    NARCIS (Netherlands)

    E.M. Byrne (Enda); P.R. Gehrman (Philip); Trzaskowski, M. (Maciej); H.W. Tiemeier (Henning); Pack, A.I. (Allan I.)

    2016-01-01

    textabstractStudy Objectives: We sought to examine how much of the heritability of self-report sleep duration is tagged by common genetic variation in populations of European ancestry and to test if the common variants contributing to sleep duration are also associated with other diseases and

  3. False-positive liver scans due to portal hypertension: correlation with percutaneous transhepatic portograms in 33 patients

    International Nuclear Information System (INIS)

    Takayasu, K.; Moriyama, N.; Suzuki, M.; Yamada, T.; Fukutake, T.; Shima, Y.; Kobayashi, C.; Musha, H.; Okuda, K.

    1983-01-01

    Tc-99m-phytate scanning of the liver and percutaneous transhepatic catheterization of the portal vein were performed in 33 patients--26 with cirrhosis, 3 with chronic active hepatitis, 2 with idiopathic portal hypertension, and 2 with unresolved acute hepatitis. A discrete defect in the porta hepatis area was seen in 6 of 28 patients who had portal vein pressure above 200 mm H2O. In 5 of the 6 patients with a false-positive scan, the umbilical portion of the left portal vein branch was dilated (larger than 25 x 20 mm) on the portogram, with or without a patent paraumbilical vein. The anatomical basis of this phenomenon is discussed, and it is suggested that this area be given special attention

  4. On the positive correlation between education and fertility intentions in Europe: Individual- and country-level evidence☆

    Science.gov (United States)

    Testa, Maria Rita

    2014-01-01

    Increasing shares of European women are making large investments in their human capital. Whether and to what extent these investments are in conflict with reproductive behaviour are issues that have repercussions for fertility levels. Using two Eurobarometer survey data (2006 and 2011) on individuals clustered in the 27 EU countries, I investigate the relationship between women's education and lifetime fertility intentions. Results suggest that a positive association between women's level of education and lifetime fertility intentions exists at both the individual and country levels, as well as in a micro–macro integrated framework. The main explanation for these findings—which remains to be proven by future research—is that, in institutional contexts allowing highly educated women to have large families, women of reproductive ages are more prone to make investments in both human capital and family size, because these choices are not seen as incompatible alternatives. PMID:26047540

  5. Positive Correlation of Serum Adiponectin with Lipid Profile in Patients with Type 2 Diabetes Mellitus is Affected by Metabolic Syndrome Status.

    Science.gov (United States)

    Eslamian, Mohammad; Mohammadinejad, Payam; Aryan, Zahra; Nakhjavani, Manouchehr; Esteghamati, Alireza

    2016-04-01

    Type-2 diabetes mellitus (DM) and Metabolic syndrome (MetS) are both associated with dyslipidemia which may lead to development of vascular complications. Adiponectin is an anti-inflammatory protein synthesized by the adipose tissue. There is controversy regarding the association of adiponectin with lipid profile. To evaluate the correlation between serum adiponectin concentration and metabolic profile in patients with type-2 DM. A single center cross-sectional study was conducted on 173 patients with type-2 DM (82 males and 91 females). Plasma adiponectin concentration, lipid profile, glucose profile, and anthropometric features were investigated. Insulin resistance was determined using Homeostasis model assessment (HOMA). Correlation of serum adiponectin with lipid profile of patients with type-2 DM was assessed. Adiponectin was negatively correlated with waist circumference (r = -0.16, P = 0.06) and positively with HbA1c (r = 0.19, P = 0.032), total cholesterol (r = 0.23, P = 0.017), LDL (r = 0.30, P = 0.001), SD-LDL (r = 0.41, P < 0.001), and SD-LDL/LDL (r = 0.22, P = 0.023). We found a positive correlation between adiponectin and total cholesterol (r = 0.27, P = 0.055), LDL (r = 0.34, P = 0.026) and SD-LDL (r = 0.41, P = 0.006) in patients with at least 3 components of MetS criteria. Correlation of adiponectin with LDL and SD-LDL remained positively significant with increasing the number of MetS components. In patients with 5 components of MetS, serum adiponectin was significantly correlated with serum triglyceride (r = 0.89). Significant interaction was observed between adiponectin and metabolic syndrome in relation to serum lipid profile. The results of the present study suggest that in patients with type-2 DM and MetS, lipid profile is strongly correlated with blood concentration of adiponectin. The strongest association was observed between serum adiponectin and LDL.

  6. Clinical correlates and genetic linkage of social and communication difficulties in families with obsessive-compulsive disorder: Results from the OCD Collaborative Genetics Study.

    Science.gov (United States)

    Samuels, Jack; Shugart, Yin Yao; Wang, Ying; Grados, Marco A; Bienvenu, O Joseph; Pinto, Anthony; Rauch, Scott L; Greenberg, Benjamin D; Knowles, James A; Fyer, Abby J; Piacentini, John; Pauls, David L; Cullen, Bernadette; Rasmussen, Steven A; Stewart, S Evelyn; Geller, Dan A; Maher, Brion S; Goes, Fernando S; Murphy, Dennis L; McCracken, James T; Riddle, Mark A; Nestadt, Gerald

    2014-06-01

    Some individuals with obsessive-compulsive disorder (OCD) have autistic-like traits, including deficits in social and communication behaviors (pragmatics). The objective of this study was to determine if pragmatic impairment aggregates in OCD families and discriminates a clinically and genetically distinct subtype of OCD. We conducted clinical examinations on, and collected DNA samples from, 706 individuals with OCD in 221 multiply affected OCD families. Using the Pragmatic Rating Scale (PRS), we compared the prevalence of pragmatic impairment in OCD-affected relatives of probands with and without pragmatic impairment. We also compared clinical features of OCD-affected individuals in families having at least one, versus no, individual with pragmatic impairment, and assessed for linkage to OCD in the two groups of families. The odds of pragmatic impairment were substantially greater in OCD-affected relatives of probands with pragmatic impairment. Individuals in high-PRS families had greater odds of separation anxiety disorder and social phobia, and a greater number of schizotypal personality traits. In high-PRS families, there was suggestive linkage to OCD on chromosome 12 at marker D12S1064 and on chromosome X at marker DXS7132 whereas, in low-PRS families, there was suggestive linkage to chromosome 3 at marker D3S2398. Pragmatic impairment aggregates in OCD families. Separation anxiety disorder, social phobia, and schizotypal personality traits are part of a clinical spectrum associated with pragmatic impairment in these families. Specific regions of chromosomes 12 and X are linked to OCD in high-PRS families. Thus, pragmatic impairment may distinguish a clinically and genetically homogeneous subtype of OCD. © 2014 Wiley Periodicals, Inc.

  7. Inverse correlation between the standard deviation of R-R intervals in supine position and the simplified menopausal index in women with climacteric symptoms.

    Science.gov (United States)

    Yanagihara, Nobuyuki; Seki, Meikan; Nakano, Masahiro; Hachisuga, Toru; Goto, Yukio

    2014-06-01

    Disturbance of autonomic nervous activity has been thought to play a role in the climacteric symptoms of postmenopausal women. This study was therefore designed to investigate the relationship between autonomic nervous activity and climacteric symptoms in postmenopausal Japanese women. The autonomic nervous activity of 40 Japanese women with climacteric symptoms and 40 Japanese women without climacteric symptoms was measured by power spectral analysis of heart rate variability using a standard hexagonal radar chart. The scores for climacteric symptoms were determined using the simplified menopausal index. Sympathetic excitability and irritability, as well as the standard deviation of mean R-R intervals in supine position, were significantly (P standard deviation of mean R-R intervals in supine position and the simplified menopausal index score. The lack of control for potential confounding variables was a limitation of this study. In climacteric women, the standard deviation of mean R-R intervals in supine position is negatively correlated with the simplified menopausal index score.

  8. Correlation between Podoplanin-positive Lymphatic Microvessel Density 
and CT Characteristics of Non-small Cell Lung Cancer

    Directory of Open Access Journals (Sweden)

    Hui ZHOU

    2012-01-01

    Full Text Available Background and objective It has been proven that ymphatic microvessel density (LMVD was closely correlated with the lymphatic metastasis of non-small cell lung cancer (NSCLC. The aim of the present study is to explore the relationship between podoplanin-LMVD and multi-slice spiral computed tomography (MSCT characteristics of NSCLC. Methods MSCT scanning was performed on 34 cases of NSCLC (squamous carcinoma, 15 cases; adenocarcinoma, 15 cases; and adenosquamous carcinoma, 4 cases prior to operation. Clinical pathology results, including lymph node metastasis, were obtained. CT characteristics, such as shape of the edge, internal structure, and adjacent structures, were described. LMVD in the central and peripheral areas examined respectively using SP immunohistochemical technique were analyzed. Results Lymph node metastasis was found to be associated with LMVD in the peripheral areas. LMVD in the peripheral areas of the resected lesions, the MSCT findings of which included spinous process, pleural indentation, and carcinomatous lymphangitis, was higher than that of the lesions without these MSCT characteristics (P<0.05. Conclusion MSCT findings of spinous process, pleural indentation, or carcinomatous lymphangitis of NSCLC may suggest a higher level of tumor lymphangiogenesis with a higher risk of lymph node metastasis.

  9. Circulating carotenoid concentrations are positively correlated with later clutch initiation in Florida Scrub-Jays (Aphelocoma coerulescens).

    Science.gov (United States)

    Heiss, Rebecca S; Cohen, Alan A; Bowman, Reed; Boughton, Raoul K; Bridge, Eli; McGraw, Kevin J; Schoech, Stephan J

    2011-02-01

    Antioxidants play key roles in preventing free radical damage to various molecules, cells, and tissues, but it is not well understood how variation in antioxidant levels may relate to the reproductive success or health of wild animals. We explored the relationship between circulating antioxidant concentrations and both body condition and timing of reproduction in male and female Florida Scrub-Jays (Aphelocoma coerulescens), a cooperatively breeding passerine bird. We examined whether levels of uric acid, vitamin E, and carotenoids (all potentially important antioxidants) were linked to body condition and timing of reproduction, two measures that are directly related to reproductive success. Antioxidant concentrations were not correlated with body condition, but they were related to timing of first clutch initiation, though not always in the predicted direction. Elevated circulating levels of carotenoids were associated with delayed clutch initiation in female breeders. Relatively higher vitamin E levels in control birds were associated with earlier clutch initiation, whereas male breeders that received long-term food supplementation had elevated levels of vitamin E and delayed reproduction. Several potential explanations for the link between elevated levels of antioxidants and delayed clutch initiation are discussed. Separate explanations for each sex include, but are not limited to, oxidative stress as a result of territory defense efforts in males, different dietary regimes due to supplementation, and mobilized plasma antioxidants in females that were coping with a stressor. © 2010 Wiley-Liss, Inc.

  10. Contribution of genetic background, traditional risk factors, and HIV-related factors to coronary artery disease events in HIV-positive persons

    DEFF Research Database (Denmark)

    Rotger, Margalida; Glass, Tracy R; Junier, Thomas

    2013-01-01

    in the setting of HIV infection. METHODS: In the general population, 23 common single-nucleotide polymorphisms (SNPs) were shown to be associated with CAD through genome-wide association analysis. Using the Metabochip, we genotyped 1875 HIV-positive, white individuals enrolled in 24 HIV observational studies......, including 571 participants with a first CAD event during the 9-year study period and 1304 controls matched on sex and cohort. RESULTS: A genetic risk score built from 23 CAD-associated SNPs contributed significantly to CAD (P = 2.9 × 10(-4)). In the final multivariable model, participants...

  11. Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory.

    Science.gov (United States)

    Petersen, Andrea K; Cheung, Sau Wai; Smith, Janice L; Bi, Weimin; Ward, Patricia A; Peacock, Sandra; Braxton, Alicia; Van Den Veyver, Ignatia B; Breman, Amy M

    2017-12-01

    Since its debut in 2011, cell-free fetal DNA screening has undergone rapid expansion with respect to both utilization and coverage. However, conclusive data regarding the clinical validity and utility of this screening tool, both for the originally included common autosomal and sex-chromosomal aneuploidies as well as the more recently added chromosomal microdeletion syndromes, have lagged behind. Thus, there is a continued need to educate clinicians and patients about the current benefits and limitations of this screening tool to inform pre- and posttest counseling, pre/perinatal decision making, and medical risk assessment/management. The objective of this study was to determine the positive predictive value and false-positive rates for different chromosomal abnormalities identified by cell-free fetal DNA screening using a large data set of diagnostic testing results on invasive samples submitted to the laboratory for confirmatory studies. We tested 712 patient samples sent to our laboratory to confirm a cell-free fetal DNA screening result, indicating high risk for a chromosome abnormality. We compiled data from all cases in which the indication for confirmatory testing was a positive cell-free fetal DNA screen, including the common trisomies, sex chromosomal aneuploidies, microdeletion syndromes, and other large genome-wide copy number abnormalities. Testing modalities included fluorescence in situ hybridization, G-banded karyotype, and/or chromosomal microarray analysis performed on chorionic villus samples, amniotic fluid, or postnatally obtained blood samples. Positive predictive values and false-positive rates were calculated from tabulated data. The positive predictive values for trisomy 13, 18, and 21 were consistent with previous reports at 45%, 76%, and 84%, respectively. For the microdeletion syndrome regions, positive predictive values ranged from 0% for detection of Cri-du-Chat syndrome and Prader-Willi/Angelman syndrome to 14% for 1p36 deletion

  12. Isolation of coagulase-positive staphylococci from bitches' colostrum and milk and genetic typing of methicillin-resistant Staphylococcus pseudintermedius strains.

    Science.gov (United States)

    Rota, Ada; Corrò, Michela; Drigo, Ilenia; Bortolami, Alessio; Börjesson, Stefan

    2015-07-23

    Among the coagulase-positive, potentially pathogenic staphylococci, Staphylococcus pseudintermedius has been frequently isolated from bitches' milk. This organism colonizes the mammary gland or causes infection, while S. aureus has been only occasionally reported. The objective of this study was to investigate the occurrence and persistence of coagulase-positive staphylococci in the colostrum and milk of postpartum bitches, either treated or untreated with antimicrobials, and to assess the incidence, antibiotic resistance profile and genetic type of the methicillin-resistant strains. On postpartum D1, D7 and D15, drops of secretion were collected from the mammary glands of 27 postpartum bitches, nine of which were treated with antimicrobials. Coagulase-positive staphylococci were identified, antimicrobial susceptibility and the presence of mecA were tested and the genetic profile of methicillin-resistant strains was assessed. Staphylococcus pseudintermedius was the only coagulase-positive staphylococcus isolated, and its presence was detected in 21 out of 27 bitches and in 66 out of 145 swabs. In a single bitch, it caused puerperal mastitis. In untreated bitches, the frequency of isolation was lower in colostrum than in milk. All of the isolates except one were resistant to at least three antimicrobial classes, while 14 out of 66 S. pseudintermedius strains were methicillin-resistant mecA positive (MRSP) and were isolated from eight bitches housed in the same breeding kennel. A significant association was found between antimicrobial treatment and the presence of MRSP. Six of the 12 typed isolates belonged to spa-type t02 carrying SCCmec II/III, and another six were non-typeable with spa carrying SCCmec IV. The t02-SCCmec II/III isolates were sequence type (ST) 71; four NT-SCCmec IV isolates were ST258 and two were ST369. PFGE showed that isolates from the same dog had identical band patterns, while isolates from different dogs had unique band patterns. MRSP strains

  13. Evidence of circadian rhythm, oxygen regulation capacity, metabolic repeatability and positive correlations between forced and spontaneous maximal metabolic rates in lake sturgeon Acipenser fulvescens.

    Directory of Open Access Journals (Sweden)

    Jon C Svendsen

    Full Text Available Animal metabolic rate is variable and may be affected by endogenous and exogenous factors, but such relationships remain poorly understood in many primitive fishes, including members of the family Acipenseridae (sturgeons. Using juvenile lake sturgeon (Acipenser fulvescens, the objective of this study was to test four hypotheses: 1 A. fulvescens exhibits a circadian rhythm influencing metabolic rate and behaviour; 2 A. fulvescens has the capacity to regulate metabolic rate when exposed to environmental hypoxia; 3 measurements of forced maximum metabolic rate (MMR(F are repeatable in individual fish; and 4 MMR(F correlates positively with spontaneous maximum metabolic rate (MMR(S. Metabolic rates were measured using intermittent flow respirometry, and a standard chase protocol was employed to elicit MMR(F. Trials lasting 24 h were used to measure standard metabolic rate (SMR and MMR(S. Repeatability and correlations between MMR(F and MMR(S were analyzed using residual body mass corrected values. Results revealed that A. fulvescens exhibit a circadian rhythm in metabolic rate, with metabolism peaking at dawn. SMR was unaffected by hypoxia (30% air saturation (O(2sat, demonstrating oxygen regulation. In contrast, MMR(F was affected by hypoxia and decreased across the range from 100% O(2sat to 70% O(2sat. MMR(F was repeatable in individual fish, and MMR(F correlated positively with MMR(S, but the relationships between MMR(F and MMR(S were only revealed in fish exposed to hypoxia or 24 h constant light (i.e. environmental stressor. Our study provides evidence that the physiology of A. fulvescens is influenced by a circadian rhythm and suggests that A. fulvescens is an oxygen regulator, like most teleost fish. Finally, metabolic repeatability and positive correlations between MMR(F and MMR(S support the conjecture that MMR(F represents a measure of organism performance that could be a target of natural selection.

  14. Positive expression of LSD1 and negative expression of E-cadherin correlate with metastasis and poor prognosis of colon cancer.

    Science.gov (United States)

    Jie, Ding; Zhongmin, Zhang; Guoqing, Liao; Sheng, Liu; Yi, Zhang; Jing, Wen; Liang, Zeng

    2013-06-01

    The first identified lysine-specific demethylase, LSD1, plays an important role in the metastatic progression of several types of cancer. The aim of this study was to investigate LSD1, E-cadherin, and N-cadherin expression in colon cancer specimens and their clinical significance. The expression of LSD1, E-cadherin, and N-cadherin in colon cancer specimens was determined by immunohistochemistry, and the relationship between the expression of the respective molecules and clinicopathological characteristics was analyzed. The positive expression rates of LSD1, E-cadherin, and N-cadherin in colon cancer specimens were 66.7 % (72/108), 85.2 % (92/108), and 41.7 % (45/108), respectively. LSD1 was significantly more highly expressed in colon cancer specimens classified as high TNM stage lesions and with distant metastasis (P colon cancer specimens classified as high TNM stage lesions and with distant metastasis (P clinical and pathological characteristics (P > 0.05). Correlation analysis revealed that LSD1 expression was negatively correlated with E-cadherin expression (r s = -0.318, P = 0.001), but not evidently correlated with N-cadherin expression (r s = 0.182, P = 0.06). Colon cancer specimens with positive LSD1 expression and negative E-cadherin expression were correlated with significantly lower overall survival. LSD1 showed a significantly higher expression, in contrast to the significantly lower expression of E-cadherin, in colon cancer specimens classified as high TNM stage lesions and with distant metastasis. Positive expression of LSD1 and negative expression of E-cadherin may be predictors of a worse colon cancer prognosis.

  15. Maternal serum lead level during pregnancy is positively correlated with risk of preterm birth in a Chinese population

    International Nuclear Information System (INIS)

    Li, Jun; Wang, Hua; Hao, Jia-Hu; Chen, Yuan-Hua; Liu, Lu; Yu, Zhen; Fu, Lin; Tao, Fang-Biao; Xu, De-Xiang

    2017-01-01

    Lead (Pb) is a well-known developmental toxicant. The aim of the present study was to analyze the association between maternal serum Pb level and risk of preterm birth in a population-based birth cohort study. The present study analyzed a sub-study of the China-Anhui Birth Cohort that recruited 3125 eligible mother-and-singleton-offspring pairs. Maternal serum Pb level was measured by graphite furnace atomic absorption spectrometry. All subjects were classified into three groups by tertile division according to serum Pb level: Low-Pb (L-Pb, <1.18 μg/dl), Medium-Pb (M-Pb, 1.18–1.70 μg/dl), and High-Pb (H-Pb, ≥1.71 μg/dl). The rate of preterm birth was 2.8% among subjects with L-Pb, 6.1% among subjects with M-Pb, and 8.1% among subjects with H-Pb, respectively. After controlling confounding factors, the adjusted OR for preterm birth was 2.33 (95%CI: 1.49, 3.65) among subjects with M-Pb and 3.09 (95%CI: 2.01, 4.76) among subjects with H-Pb. Of interest, maternal Pb exposure in early gestational stage than in middle gestational stage was more susceptible to preterm birth. Moreover, maternal serum Pb level was only associated with increased risk of late preterm birth. The present study provides evidence that maternal serum Pb level during pregnancy is positively associated with risk of preterm birth in a Chinese population. - Highlights: • Environmental Pb exposure during pregnancy elevates risk of preterm birth. • Environmental Pb exposure during pregnancy elevates risk of moderate and late preterm birth. • Environmental Pb exposure at early or middle gestational stage elevates risk of preterm birth. - Maternal serum Pb level during pregnancy is positively associated with risk of preterm birth in a Chinese population.

  16. Entorhinal cortex volume measured with 3T MRI is positively correlated with the Wechsler memory scale-revised logical/verbal memory score for healthy subjects

    International Nuclear Information System (INIS)

    Goto, Masami; Abe, Osamu; Takao, Hidemasa; Inano, Sachiko; Mori, Harushi; Kunimatsu, Akira; Ohtomo, Kuni; Miyati, Tosiaki; Yoshikawa, Takeharu; Hayashi, Naoto; Kabasawa, Hiroyuki; Aoki, Shigeki; Ino, Kenji; Iida, Kyouhito; Yano, Keiichi

    2011-01-01

    Previous studies revealed a correlation between local brain volume and cognitive function. The aim of the present study was to investigate the correlation between local gray matter volume and the Wechsler Memory Scale-Revised (WMS-R) logical/verbal memory (WMS-R-verbal) score in healthy adults using a 3 Tesla magnetic resonance scanner and voxel-based morphometry (VBM). T1-weighted magnetic resonance images were obtained in 1,169 healthy adults. The T1-weighted images in native space were bias-corrected, spatially normalized, and segmented into gray matter, white matter, and cerebrospinal fluid images with Statistical Parametric Mapping 5. To investigate regionally the specific effects of the WMS-R-verbal score on the gray matter images, simple regression analysis was performed by VBM treating age, total intracranial volume, and gender as confounding covariates. A P value of less than 0.05 corrected with false discovery rate in voxel difference was considered to be statistically significant. Our study showed a significant positive correlation between the WMS-R-verbal score and the bilateral entorhinal cortex volume. In the right entorhinal, T value is 4.75, and the size of the clusters is 155 voxels. In the left entorhinal, T value is 4.08, and the size of the clusters is 23 voxels. A significant negative correlation was not found. To our knowledge, this is the first VBM study showing that entorhinal cortex volume is positively correlated with the WMS-R-verbal score for healthy subjects. Therefore, in our structural neuroimaging study, we add evidence to the hypothesis that the entorhinal cortex is involved in verbal memory processing. (orig.)

  17. Entorhinal cortex volume measured with 3T MRI is positively correlated with the Wechsler memory scale-revised logical/verbal memory score for healthy subjects

    Energy Technology Data Exchange (ETDEWEB)

    Goto, Masami [University of Tokyo Hospital, Department of Radiological Technology, Graduate School of Medicine, Tokyo (Japan); Kanazawa University, Tsunomatyou, Graduate School of Medical Science, Kanazawa (Japan); Abe, Osamu; Takao, Hidemasa; Inano, Sachiko; Mori, Harushi; Kunimatsu, Akira; Ohtomo, Kuni [University of Tokyo Hospital, Department of Radiology, Tokyo (Japan); Miyati, Tosiaki [Kanazawa University, Tsunomatyou, Graduate School of Medical Science, Kanazawa (Japan); Yoshikawa, Takeharu; Hayashi, Naoto [University of Tokyo Hospital, Department of Computational Diagnostic Radiology and Preventive Medicine, Tokyo (Japan); Kabasawa, Hiroyuki [GE Healthcare, Japan Applied Science Laboratory, Hino (Japan); Aoki, Shigeki [Juntendo University, Department of Radiology, Tokyo (Japan); Ino, Kenji; Iida, Kyouhito; Yano, Keiichi [University of Tokyo Hospital, Department of Radiological Technology, Graduate School of Medicine, Tokyo (Japan)

    2011-08-15

    Previous studies revealed a correlation between local brain volume and cognitive function. The aim of the present study was to investigate the correlation between local gray matter volume and the Wechsler Memory Scale-Revised (WMS-R) logical/verbal memory (WMS-R-verbal) score in healthy adults using a 3 Tesla magnetic resonance scanner and voxel-based morphometry (VBM). T1-weighted magnetic resonance images were obtained in 1,169 healthy adults. The T1-weighted images in native space were bias-corrected, spatially normalized, and segmented into gray matter, white matter, and cerebrospinal fluid images with Statistical Parametric Mapping 5. To investigate regionally the specific effects of the WMS-R-verbal score on the gray matter images, simple regression analysis was performed by VBM treating age, total intracranial volume, and gender as confounding covariates. A P value of less than 0.05 corrected with false discovery rate in voxel difference was considered to be statistically significant. Our study showed a significant positive correlation between the WMS-R-verbal score and the bilateral entorhinal cortex volume. In the right entorhinal, T value is 4.75, and the size of the clusters is 155 voxels. In the left entorhinal, T value is 4.08, and the size of the clusters is 23 voxels. A significant negative correlation was not found. To our knowledge, this is the first VBM study showing that entorhinal cortex volume is positively correlated with the WMS-R-verbal score for healthy subjects. Therefore, in our structural neuroimaging study, we add evidence to the hypothesis that the entorhinal cortex is involved in verbal memory processing. (orig.)

  18. Low temperature leaf photosynthesis of a Miscanthus germplasm collection correlates positively to shoot growth rate and specific leaf area

    DEFF Research Database (Denmark)

    Jiao, Xiurong; Sørensen, Kirsten Kørup; Andersen, Mathias Neumann

    2016-01-01

    and CO2 response curves were obtained from 11 of the genotypes, and shoot growth rate was measured under field conditions. Key Results A positive linear relationship was found between SLA and light-saturated photosynthesis (Asat) across genotypes, and also between shoot growth rate under cool field...... conditions and A1000 at 14 °C in a climate chamber. When lowering the temperature from 24 to 14 °C, one M. sacchariflorus exhibited significantly higher Asat and maximum photosynthetic rate in the CO2 response curve (Vmax) than other genotypes at 14 °C, except M. × giganteus ‘Hornum’. Several genotypes...... returned to their pre-chilling A1000 values when the temperature was increased to 24 °C after 24 d growth at 14 °C. Conclusions One M. sacchariflorus genotype had similar or higher photosynthetic capacity than M. × giganteus, and may be used for cultivation together with M. × giganteus or for breeding new...

  19. Correlates of Unstructured Antiretroviral Treatment Interruption in a Cohort of HIV-Positive Individuals in British Columbia

    Science.gov (United States)

    Samji, Hasina; Chen, Yalin; Salters, Kate; Montaner, Julio S. G.; Hogg, Robert S.

    2014-01-01

    Treatment interruptions (TIs) limit the therapeutic success of combination antiretroviral therapy and are associated with higher morbidity and mortality. HIV-positive individuals dealing with concurrent health issues, access challenges and competing life demands are hypothesized to be more likely to interrupt treatment. Individuals were included if they initiated cART ≥1 year prior to interview date and had a CD4 cell count or initial regimen recorded at initiation. Using pharmacy recording, TIs were defined as a patient-initiated interruption in treatment ≥90 consecutive days during the 12 months preceding or following the study interview. 117 (15%) of 768 participants included in this study had a TI during the study window. 76.0% of participants were male, 27.5% were of Aboriginal ethnicity and the median age was 46 (interquartile range (IQR): 40–52). In multivariable logistic regression, TIs were significantly associated with current illicit drug use (adjusted odds ratio [aOR]: 1.68, 95% confidence interval [CI]: 1.05–2.68); perception of overall health (aOR: 1.64 95% CI: 1.05–2.55); being unemployed (aOR: 2.22, 95% CI: 1.16–4.23); and younger age at interview (aOR: 0.57, 95% CI: 0.44–0.75, per 10 year increment). Addressing socioeconomic barriers to treatment retention is vital for supporting the continuous engagement of patients in care. PMID:24781638

  20. Design of a correlated validated CFD and genetic algorithm model for optimized sensors placement for indoor air quality monitoring

    Science.gov (United States)

    Mousavi, Monireh Sadat; Ashrafi, Khosro; Motlagh, Majid Shafie Pour; Niksokhan, Mohhamad Hosein; Vosoughifar, HamidReza

    2018-02-01

    In this study, coupled method for simulation of flow pattern based on computational methods for fluid dynamics with optimization technique using genetic algorithms is presented to determine the optimal location and number of sensors in an enclosed residential complex parking in Tehran. The main objective of this research is costs reduction and maximum coverage with regard to distribution of existing concentrations in different scenarios. In this study, considering all the different scenarios for simulation of pollution distribution using CFD simulations has been challenging due to extent of parking and number of cars available. To solve this problem, some scenarios have been selected based on random method. Then, maximum concentrations of scenarios are chosen for performing optimization. CFD simulation outputs are inserted as input in the optimization model using genetic algorithm. The obtained results stated optimal number and location of sensors.

  1. Outcome correlation of smear-positivity but culture-negativity during standard anti-tuberculosis treatment in Taiwan.

    Science.gov (United States)

    Chao, Wen-Cheng; Huang, Yi-Wen; Yu, Ming-Chih; Yang, Wen-Ta; Lin, Chou-Jui; Lee, Jen-Jyh; Huang, Ruay-Ming; Shieh, Chi-Chang; Chien, Shun-Tien; Chien, Jung-Yien

    2015-02-18

    The appearance of smear-positivity but culture-negativity (SPCN) for acid-fast bacilli among sputum specimen is frequently found in pulmonary tuberculosis (TB) patients during treatment. This study aimed to investigate clinical risk factors, impacts on treatment course, and relapse pattern associated with sputum SPCN. We retrospectively enrolled 800 patients with culture-proven pulmonary TB who were receiving standard treatment and follow-up at six TB-referral hospitals in Taiwan between January 2006 and December 2007. Relevant patient characteristics and chemotherapy data were analyzed for associations with incidence of SPCN. Data from patients who relapsed within 3 years after completing treatment were analyzed for associations with SPCN during treatment. Of the 800 subjects, 111 (13.8%) had sputum SPCN during treatment. Three factors were found to predict the development of SPCN; namely, high initial acid-fast staining grading (OR, 3.407; 95% CI, 2.090-5.553), cavitation on chest-X ray films (OR, 2.217; 95% CI, 1.359-3.615), and smoking (OR, 1.609; 95% CI, 1.006-2.841). Patients with SPCN had longer treatment duration (rifampicin: 284 ± 91 vs. 235 ± 69 days, P <0.001; isoniazid: 289 ± 90 vs. 234 ± 69 days, P < 0.001) than those without SPCN. Finally, the rate of relapse within 3 years of completing treatment was similar for groups with/without SPCN (2.7%, 3/111 vs. 1.0%, 7/689, respectively; P = 0.15). In conclusion, severity of infection was a major risk factor for SPCN during treatment; however, the relapse rate within 3 years of completing treatment was not affected by the appearance of SPCN.

  2. Correlates of unstructured antiretroviral treatment interruption in a cohort of HIV-positive individuals in British Columbia.

    Science.gov (United States)

    Samji, Hasina; Chen, Yalin; Salters, Kate; Montaner, Julio S G; Hogg, Robert S

    2014-11-01

    Treatment interruptions (TIs) limit the therapeutic success of combination antiretroviral therapy and are associated with higher morbidity and mortality. HIV-positive individuals dealing with concurrent health issues, access challenges and competing life demands are hypothesized to be more likely to interrupt treatment. Individuals were included if they initiated cART ≥1 year prior to interview date and had a CD4 cell count and initial regimen recorded at initiation. Using pharmacy recording, a TI was defined as a patient-initiated gap in treatment ≥90 consecutive days during the 12 months preceding or following the study interview. 117 (15.2 %) of 768 participants included in this study had a TI during the study window. 76.0 % of participants were male, 27.5 % were of Aboriginal ancestry and the median age was 46 (interquartile range 40-52). In multivariable logistic regression, TIs were significantly associated with current illicit drug use (adjusted odds ratio [aOR] 1.68, 95 % confidence interval [CI] 1.05-2.68); perception of overall health (aOR 1.64 95 % CI 1.05-2.55); being unemployed (aOR: 2.22, 95 % CI 1.16-4.23); and younger age at interview (aOR 0.57, 95 % CI 0.44-0.75, per 10 year increase). Addressing socioeconomic barriers to treatment retention is vital for supporting the continuous engagement of patients in care.

  3. Cryptococcal neuroradiological lesions correlate with severity during cryptococcal meningoencephalitis in HIV-positive patients in the HAART era.

    Directory of Open Access Journals (Sweden)

    Caroline Charlier

    Full Text Available Cryptococcal meningoencephalitis has an overall global mortality rate of 20% in AIDS patients despite antifungals. There is a need for additional means of precise assessment of disease severity. We thus studied the radiological brain images available from 62 HIV-positive patients with cryptococcocal meningoencephalitis to analyse the brain lesions associated with cryptococcosis in relationship with disease severity, and the respective diagnostic contribution of magnetic resonance (MR versus computed tomography (CT. In this retrospective multicenter analysis, two neuroradiologists blindly reviewed the brain imaging. Prospectively acquired clinical and mycological data were available at baseline and during follow-up. Baseline images were abnormal on 92% of the MR scans contrasting with 53% of the CT scans. MR/CT cryptococcosis-related lesions included mass(es (21%/9%, dilated perivascular spaces (46%/5% and pseudocysts (8%/4%. The presence compared to absence of cryptococcosis-related lesions was significantly associated with high serum (78% vs. 42%, p = 0.008 and CSF (81% vs. 50%, p = 0.024 antigen titers, independently of neurological abnormalities. MR detected significantly more cryptococcosis-related lesions than CT for 17 patients who had had both investigations (76% vs. 24%, p = 0.005. In conclusion, MR appears more effective than CT for the evaluation of AIDS-associated cerebral cryptococcosis. Furthermore, brain imaging is an effective tool to assess the initial disease severity in this setting. Given this, we suggest that investigation for cryptococcosis-related lesions is merited, even in the absence of neurological abnormality, if a high fungal burden is suspected on the basis of high serum and/or CSF antigen titers.

  4. Genetic divergence correlates with morphological and ecological subdivision in the deep-water elk kelp, Pelagophycus porra (phaeophyceae)

    NARCIS (Netherlands)

    Miller, KA; Olsen, JL; Stam, WT

    2000-01-01

    Pelagophycus porra (Leman) Setchell has a narrow distribution confined to deep water from the Channel Islands off the southern California coast to central Baja California, Mexico. Distinct morphotypes are consistently correlated with distinctive habitats, that is, windward exposures characterized by

  5. Experimental assessment of the importance of amino acid positions identified by an entropy-based correlation analysis of multiple-sequence alignments.

    Science.gov (United States)

    Dietrich, Susanne; Borst, Nadine; Schlee, Sandra; Schneider, Daniel; Janda, Jan-Oliver; Sterner, Reinhard; Merkl, Rainer

    2012-07-17

    The analysis of a multiple-sequence alignment (MSA) with correlation methods identifies pairs of residue positions whose occupation with amino acids changes in a concerted manner. It is plausible to assume that positions that are part of many such correlation pairs are important for protein function or stability. We have used the algorithm H2r to identify positions k in the MSAs of the enzymes anthranilate phosphoribosyl transferase (AnPRT) and indole-3-glycerol phosphate synthase (IGPS) that show a high conn(k) value, i.e., a large number of significant correlations in which k is involved. The importance of the identified residues was experimentally validated by performing mutagenesis studies with sAnPRT and sIGPS from the archaeon Sulfolobus solfataricus. For sAnPRT, five H2r mutant proteins were generated by replacing nonconserved residues with alanine or the prevalent residue of the MSA. As a control, five residues with conn(k) values of zero were chosen randomly and replaced with alanine. The catalytic activities and conformational stabilities of the H2r and control mutant proteins were analyzed by steady-state enzyme kinetics and thermal unfolding studies. Compared to wild-type sAnPRT, the catalytic efficiencies (k(cat)/K(M)) were largely unaltered. In contrast, the apparent thermal unfolding temperature (T(M)(app)) was lowered in most proteins. Remarkably, the strongest observed destabilization (ΔT(M)(app) = 14 °C) was caused by the V284A exchange, which pertains to the position with the highest correlation signal [conn(k) = 11]. For sIGPS, six H2r mutant and four control proteins with alanine exchanges were generated and characterized. The k(cat)/K(M) values of four H2r mutant proteins were reduced between 13- and 120-fold, and their T(M)(app) values were decreased by up to 5 °C. For the sIGPS control proteins, the observed activity and stability decreases were much less severe. Our findings demonstrate that positions with high conn(k) values have an

  6. Presence of S100A9-positive inflammatory cells in cancer tissues correlates with an early stage cancer and a better prognosis in patients with gastric cancer

    International Nuclear Information System (INIS)

    Fan, Biao; Li, Ying-Ai; Du, Hong; Zhao, Wei; Niu, Zhao-Jian; Lu, Ai-Ping; Li, Ji-You; Ji, Jia-Fu; Zhang, Lian-Hai; Jia, Yong-ning; Zhong, Xi-Yao; Liu, Yi-Qiang; Cheng, Xiao-Jing; Wang, Xiao-Hong; Xing, Xiao-Fang; Hu, Ying

    2012-01-01

    S100A9 was originally discovered as a factor secreted by inflammatory cells. Recently, S100A9 was found to be associated with several human malignancies. The purpose of this study is to investigate S100A9 expression in gastric cancer and explore its role in cancer progression. S100A9 expression in gastric tissue samples from 177 gastric cancer patients was assessed by immunohistochemistry. The expression of its dimerization partner S100A8 and the S100A8/A9 heterodimer were also assessed by the same method. The effect of exogenous S100A9 on motility of gastric cancer cells AGS and BGC-823 was then investigated. S100A9 was specifically expressed by inflammatory cells such as macrophages and neutrophils in human gastric cancer and gastritis tissues. Statistical analysis showed that a high S100A9 cell count (> = 200) per 200x magnification microscopic field in cancer tissues was predictive of early stage gastric cancer. High S100A9-positive cell count was negatively correlated with lymph node metastasis (P = 0.009) and tumor invasion (P = 0.011). S100A9 was identified as an independent prognostic predictor of overall survival of patients with gastric cancer (P = 0.04). Patients with high S100A9 cell count were with favorable prognosis (P = 0.021). Further investigation found that S100A8 distribution in human gastric cancer tissues was similar to S100A9. However, the number of S100A8-positive cells did not positively correlate with patient survival. The inflammatory cells infiltrating cancer were S100A8/A9 negative, while those in gastritis were positive. Furthermore, exogenous S100A9 protein inhibited migration and invasion of gastric cancer cells. Our results suggested S100A9-positive inflammatory cells in gastric cancer tissues are associated with early stage of gastric cancer and good prognosis

  7. Correlates of unprotected anal intercourse: the influence of anal sex position among men who have sex with men in Beijing, china.

    Science.gov (United States)

    Zhang, Heng; Lu, Hongyan; Pan, Stephen W; Xia, Dongyan; Zhao, Yuejuan; Xiao, Yan; He, Xiong; Yue, Hai; Sun, Zheya; Xu, Yunan; Ruan, Yuhua; Shao, Yiming

    2015-02-01

    Understanding barriers to consistent condom use among men who have sex with men (MSM) requires consideration of the context in which risk behaviors occur. Anal sex position is one such context. This pooled cross-sectional study used survey data from 1,230 MSM and their 2,618 reported male sexual partnerships. Overall, nearly half of the participants engaged in unprotected anal intercourse (UAI) with at least one of upto three partners in the past 6 months. "Insertive" men engaged in less UAI (39 %) than "receptive" (53 %) or "versatile" (51 %) men. Regardless of sexual position, UAI was associated with cohabiting with a male or female partner and perceiving great or moderate risk of HIV from male contact at the individual level, and steady (vs. casual) partnership at the dyad level. However, early MSM anal sex debut, high number of male partners, alcohol use, receiving and buying condoms, HIV testing, and MSM sex-seeking venues were found to be only statistically significantly correlated with UAI among some but not all sexual positions, implying that interventions to increase condom use should take into account how anal sex position may influence willingness and ability to engage in safer sex. Dyad level data appear to provide additional insight into the influence of sexual positions, and should be used to complement individual data for future intervention designs.

  8. Smoking and caffeine consumption: a genetic analysis of their association

    NARCIS (Netherlands)

    Treur, J.L.; Taylor, A.E.; Ware, J.J.; Nivard, M.G.; Neale, M.C.; McMahon, G.; Hottenga, J.J.; Baselmans, B.M.L.; Boomsma, D.I.; Munafò, M.; Vink, J.M.

    2017-01-01

    Smoking and caffeine consumption show a strong positive correlation, but the mechanism underlying this association is unclear. Explanations include shared genetic/environmental factors or causal effects. This study employed three methods to investigate the association between smoking and caffeine.

  9. Determination of the length and position of the lower oesophageal sphincter (LOS) by correlation of external measurements with combined radiographic and manometric estimations in the cat

    International Nuclear Information System (INIS)

    Hashim, M.A.; Waterman, A.E.

    1992-01-01

    Fifty DSH cats were studied radiographically and a highly significant linear correlation was found between the length of the oesophagus measured to the diaphragmatic line on the radiographs and the externally measured distance from the lower jaw incisor teeth to the anterior border of the head of 10th rib. A subsequent manometric study utilizing this correlation in 40 cats suggests that the functional lower oesophageal sphincter (LOS) is situated almost at the level of the diaphragm in the cat. Significant differences were found between the length of the LOS in cats anaesthetized with ketamine compared to alphaxalone-alphadolone or xylazine-ketamine-atropine. The mean lengths of the LOS was 1.42 +/- 0.3 cm. The findings of this study indicate that external measurements can be used to position catheters for accurate oesophageal manometry in the cat

  10. Evidence for a positive correlation between serum cortisol levels and IL-1beta production by peripheral mononuclear cells in anorexia nervosa.

    Science.gov (United States)

    Limone, P; Biglino, A; Bottino, F; Forno, B; Calvelli, P; Fassino, S; Berardi, C; Ajmone-Catt, P; Bertagna, A; Tarocco, R P; Rovera, G G; Molinatti, G M

    2000-01-01

    A hyperactivity of the hypothalamic-pituitary-adrenal (HPA) axis has been reported in anorexia nervosa (AN), together with some immunological abnormalities, involving citokine - and particularly Tumor Necrosis-Factor-alpha (TNF-alpha) - production by polymorphonuclear cells. The ability of pro-inflammatory cytokines to activate the HPA axis is well known; however, there are no data demonstrating an interdependence between immunological and endocrine response in AN. To investigate the presence of a correlation between immune response and pituitary-adrenal function, plasma ACTH and serum cortisol concentrations were measured in 13 AN patients and in the same number of controls. TNF-alpha and interleukin (IL)-1beta production by ex-vivo unstimulated and LPS-stimulated peripheral mononuclear cells was also assessed. Circulating cortisol concentrations were higher (p<0.01) in AN (156.7 +/- 45.1 microg/l, mean +/- SD) than in controls (105.9 +/- 25.7 microg/l). Unstimulated IL-1beta release in supernatants of mononuclear cell cultures was slightly but not significantly higher in AN than in controls, while TNF-alpha release was similar in the two groups. A positive correlation was found between IL-1beta concentrations in unstimulated culture supranatants and serum cortisol levels in AN (r=0.782, p=0.002), while in normal subjects there was a trend toward a negative correlation; a slight positive correlation, while not significant, between IL-1beta and plasma ACTH, as well as between TNF-alpha and serum cortisol was also found in AN. These data suggest that the normal relationship between pro-inflammatory cytokines release, particularly IL-1beta, and cortisol secretion is deranged in AN.

  11. The positive correlation of the CCL2-CCR2 axis with the disease activity may indicate the fundamental role in the pathogenesis of oral lichen planus.

    Science.gov (United States)

    Yin, Jingfang; Yang, Xi; Zeng, Qi; Yang, Linglan; Cheng, Bin; Tao, Xiaoan

    2016-01-01

    The important roles of CCL2 and its receptor CCR2 had been reported in a series of inflammatory disorders. However, few studies investigated the potential role of CCL2/CCR2 axis in oral lichen planus (OLP). Therefore, this study aimed to detect the expression of CCL2 and CCR2 in OLP lesions and compare their changes before and after treatment. CCL2 and CCR2 expression was investigated using immunohistochemical staining and real-time RT-PCR in 32 patients with OLP and eight controls. Moreover, changes in their expression after treatment with triamcinolone acetonide were assessed in lesions from three patients. CCL2+ and CCR2+ cells were few in the controls and remarkably increased in the epithelial and subepithelial layers of lesions (n = 32, all P < 0.001). However, the densities of CCL2+ and CCR2+ cells were not significantly different between reticular (n = 12) and erythematous/erosive lesions (n = 20), although they significantly decreased after treatment (627.7 ± 108.2 vs. 258.3 ± 148.3, P = 0.017; 1034.7 ± 74.6 vs. 648 ± 77.6, P = 0.003, respectively). CCL2+/CCR2+ cell numbers were positively correlated with disease activity (correlation coefficient, 0.588; P < 0.001; correlation coefficient, 0.409; P = 0.02, respectively). The results of this study indicated that the CCL2-CCR2 axis was involved in the pathogenesis of OLP and was positively correlated with disease activity. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  12. Cluster analysis of obsessive-compulsive spectrum disorders in patients with obsessive-compulsive disorder: clinical and genetic correlates.

    Science.gov (United States)

    Lochner, Christine; Hemmings, Sian M J; Kinnear, Craig J; Niehaus, Dana J H; Nel, Daniel G; Corfield, Valerie A; Moolman-Smook, Johanna C; Seedat, Soraya; Stein, Dan J

    2005-01-01

    Comorbidity of certain obsessive-compulsive spectrum disorders (OCSDs; such as Tourette's disorder) in obsessive-compulsive disorder (OCD) may serve to define important OCD subtypes characterized by differing phenomenology and neurobiological mechanisms. Comorbidity of the putative OCSDs in OCD has, however, not often been systematically investigated. The Structured Clinical Interview for Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition , Axis I Disorders-Patient Version as well as a Structured Clinical Interview for Putative OCSDs (SCID-OCSD) were administered to 210 adult patients with OCD (N = 210, 102 men and 108 women; mean age, 35.7 +/- 13.3). A subset of Caucasian subjects (with OCD, n = 171; control subjects, n = 168), including subjects from the genetically homogeneous Afrikaner population (with OCD, n = 77; control subjects, n = 144), was genotyped for polymorphisms in genes involved in monoamine function. Because the items of the SCID-OCSD are binary (present/absent), a cluster analysis (Ward's method) using the items of SCID-OCSD was conducted. The association of identified clusters with demographic variables (age, gender), clinical variables (age of onset, obsessive-compulsive symptom severity and dimensions, level of insight, temperament/character, treatment response), and monoaminergic genotypes was examined. Cluster analysis of the OCSDs in our sample of patients with OCD identified 3 separate clusters at a 1.1 linkage distance level. The 3 clusters were named as follows: (1) "reward deficiency" (including trichotillomania, Tourette's disorder, pathological gambling, and hypersexual disorder), (2) "impulsivity" (including compulsive shopping, kleptomania, eating disorders, self-injury, and intermittent explosive disorder), and (3) "somatic" (including body dysmorphic disorder and hypochondriasis). Several significant associations were found between cluster scores and other variables; for example, cluster I scores were associated

  13. Revision 1 size and position of the healthy meniscus, and its correlation with sex, height, weight, and bone area- a cross-sectional study.

    Science.gov (United States)

    Bloecker, Katja; Englund, Martin; Wirth, Wolfgang; Hudelmaier, Martin; Burgkart, Rainer; Frobell, Richard B; Eckstein, Felix

    2011-10-28

    Meniscus extrusion or hypertrophy may occur in knee osteoarthritis (OA). However, currently no data are available on the position and size of the meniscus in asymptomatic men and women with normal meniscus integrity. Three-dimensional coronal DESSwe MRIs were used to segment and quantitatively measure the size and position of the medial and lateral menisci, and their correlation with sex, height, weight, and tibial plateau area. 102 knees (40 male and 62 female) were drawn from the Osteoarthritis Initiative "non-exposed" reference cohort, including subjects without symptoms, radiographic signs, or risk factors for knee OA. Knees with MRI signs of meniscus lesions were excluded. The tibial plateau area was significantly larger (p sexes, and that tibial coverage by the meniscus is similar between men and women.

  14. [Correlation between genetic polymorphisms of -855 G/C and -1140 G/A in GRIN1 gene and paranoid schizophrenia].

    Science.gov (United States)

    Li, Zhong-Jie; Ding, Mei; Pang, Hao; Sun, Xue-Fei; Xing, Jia-Xin; Xuan, Jin-Feng; Wang, Bao-Jie

    2013-04-01

    To investigate the single nucleotide polymorphisms (SNP) of -855 G/C and -1140 G/A in promoter regions of GRIN1 gene and find their genetic correlation to paranoid schizophrenia as well as their applicable values in forensic medicine. The genetic polymorphisms of -855 G/C and -1140 G/A at the 5' end of GRIN1 gene were detected by PCR restriction fragment length polymorphism and PAGE in 183 healthy unrelated individuals of northern Chinese Han population and 172 patients of paranoid schizophrenia, respectively. The chi2 test was used to identify Hardy-Weinberg equilibrium of the genotype distribution. The differences of genotypes and allelic frequency distributions were compared between the two groups. Distributions of the genotypic frequencies satisfied Hardy-Weinberg equilibrium in both groups. The difference of genotypes was statistically significant between female patient group and female control group in -855 G/C distribution (P paranoid schizophrenia. The genetic factor of schizophrenia is involved in gender tendency. And it could be useful in forensic identification of schizophrenia.

  15. Evolution of resistance to a multiple-herbivore community: genetic correlations, diffuse coevolution, and constraints on the plant's response to selection.

    Science.gov (United States)

    Wise, Michael J; Rausher, Mark D

    2013-06-01

    Although plants are generally attacked by a community of several species of herbivores, relatively little is known about the strength of natural selection for resistance in multiple-herbivore communities-particularly how the strength of selection differs among herbivores that feed on different plant organs or how strongly genetic correlations in resistance affect the evolutionary responses of the plant. Here, we report on a field study measuring natural selection for resistance in a diverse community of herbivores of Solanum carolinense. Using linear phenotypic-selection analyses, we found that directional selection acted to increase resistance to seven species. Selection was strongest to increase resistance to fruit feeders, followed by flower feeders, then leaf feeders. Selection favored a decrease in resistance to a stem borer. Bootstrapping analyses showed that the plant population contained significant genetic variation for each of 14 measured resistance traits and significant covariances in one-third of the pairwise combinations of resistance traits. These genetic covariances reduced the plant's overall predicted evolutionary response for resistance against the herbivore community by about 60%. Diffuse (co)evolution was widespread in this community, and the diffuse interactions had an overwhelmingly constraining (rather than facilitative) effect on the plant's evolution of resistance. © 2013 The Author(s). Evolution © 2013 The Society for the Study of Evolution.

  16. A possible correlation between the host genetic background in the epidemiology of Hepatitis B virus in the Amazon region of Brazil

    Directory of Open Access Journals (Sweden)

    A. K. C. R. Santos

    1995-08-01

    Full Text Available The Amazon region of Brazil is an area of great interest because of the large distribution of hepatitis B virus in specific Western areas. Seven urban communities and 24 Indian groups were visited in a total of 4,244 persons. Each individual was interviewed in order to obtain demographic and familial information. Whole blood was collected for serology and genetic determinations. Eleven genetic markers and three HBV markers were tested. Among the most relevant results it was possible to show that (i there was a large variation of previous exposure to HBV in both urban and non-urban groups ranging from 0 to 59.2%; (ii there was a different pattern of epidemiological distribution of HBV that was present even among a same linguistic Indian group, with mixed patterns of correlation between HBsAg and anti-HBs and (iii the prevalence of HBV markers (HBsAg and anti-HBs were significantly higher (P=0.0001 among the Indian population (18.8% than the urban groups (12.5%. Its possible that the host genetic background could influence and modulate the replication of the virus in order to generate HB carrier state.

  17. Across-environment genetic correlations and the frequency of selective environments shape the evolutionary dynamics of growth rate in Impatiens capensis.

    Science.gov (United States)

    Stinchcombe, John R; Izem, Rima; Heschel, M Shane; McGoey, Brechann V; Schmitt, Johanna

    2010-10-01

    Trade-offs can exist within and across environments, and constrain evolutionary trajectories. To examine the effects of competition and resource availability on trade-offs, we grew individuals of recombinant inbred lines of Impatiens capensis in a factorial combination of five densities with two light environments (full light and neutral shade) and used a Bayesian logistic growth analysis to estimate intrinsic growth rates. To estimate across-environment constraints, we developed a variance decomposition approach to principal components analysis, which accounted for sample size, model-fitting, and within-RIL variation prior to eigenanalysis. We detected negative across-environment genetic covariances in intrinsic growth rates, although only under full-light. To evaluate the potential importance of these covariances, we surveyed natural populations of I. capensis to measure the frequency of different density environments across space and time. We combined our empirical estimates of across-environment genetic variance-covariance matrices and frequency of selective environments with hypothetical (yet realistic) selection gradients to project evolutionary responses in multiple density environments. Selection in common environments can lead to correlated responses to selection in rare environments that oppose and counteract direct selection in those rare environments. Our results highlight the importance of considering both the frequency of selective environments and the across-environment genetic covariances in traits simultaneously. © 2010 The Author(s). Journal compilation © 2010 The Society for the Study of Evolution.

  18. Genome-wide analysis in UK Biobank identifies four loci associated with mood instability and genetic correlation with major depressive disorder, anxiety disorder and schizophrenia.

    Science.gov (United States)

    Ward, Joey; Strawbridge, Rona J; Bailey, Mark E S; Graham, Nicholas; Ferguson, Amy; Lyall, Donald M; Cullen, Breda; Pidgeon, Laura M; Cavanagh, Jonathan; Mackay, Daniel F; Pell, Jill P; O'Donovan, Michael; Escott-Price, Valentina; Smith, Daniel J

    2017-11-30

    Mood instability is a core clinical feature of affective and psychotic disorders. In keeping with the Research Domain Criteria approach, it may be a useful construct for identifying biology that cuts across psychiatric categories. We aimed to investigate the biological validity of a simple measure of mood instability and evaluate its genetic relationship with several psychiatric disorders, including major depressive disorder (MDD), bipolar disorder (BD), schizophrenia, attention deficit hyperactivity disorder (ADHD), anxiety disorder and post-traumatic stress disorder (PTSD). We conducted a genome-wide association study (GWAS) of mood instability in 53,525 cases and 60,443 controls from UK Biobank, identifying four independently associated loci (on chromosomes 8, 9, 14 and 18), and a common single-nucleotide polymorphism (SNP)-based heritability estimate of ~8%. We found a strong genetic correlation between mood instability and MDD (r g  = 0.60, SE = 0.07, p = 8.95 × 10 -17 ) and a small but significant genetic correlation with both schizophrenia (r g  = 0.11, SE = 0.04, p = 0.01) and anxiety disorders (r g  = 0.28, SE = 0.14, p = 0.04), although no genetic correlation with BD, ADHD or PTSD was observed. Several genes at the associated loci may have a role in mood instability, including the DCC netrin 1 receptor (DCC) gene, eukaryotic translation initiation factor 2B subunit beta (eIF2B2), placental growth factor (PGF) and protein tyrosine phosphatase, receptor type D (PTPRD). Strengths of this study include the very large sample size, but our measure of mood instability may be limited by the use of a single question. Overall, this work suggests a polygenic basis for mood instability. This simple measure can be obtained in very large samples; our findings suggest that doing so may offer the opportunity to illuminate the fundamental biology of mood regulation.

  19. Negative phenotypic and genetic correlation between natal dispersal propensity and nest-defence behaviour in a wild bird.

    Science.gov (United States)

    Bize, Pierre; Daniel, Grégory; Viblanc, Vincent A; Martin, Julien G A; Doligez, Blandine

    2017-07-01

    Natural selection is expected to favour the integration of dispersal and phenotypic traits allowing individuals to reduce dispersal costs. Accordingly, associations have been found between dispersal and personality traits such as aggressiveness and exploration, which may facilitate settlement in a novel environment. However, the determinism of these associations has only rarely been explored. Here, we highlight the functional integration of individual personality in nest-defence behaviour and natal dispersal propensity in a long-lived colonial bird, the Alpine swift ( Apus melba ), providing insights into genetic constraints shaping the coevolution of these two traits. We report a negative association between natal dispersal and nest-defence (i.e. risk taking) behaviour at both the phenotypic and genetic level. This negative association may result from direct selection if risk-averseness benefits natal dispersers by reducing the costs of settlement in an unfamiliar environment, or from indirect selection if individuals with lower levels of nest defence also show lower levels of aggressiveness, reducing costs of settlement among unfamiliar neighbours in a colony. In both cases, these results highlight that risk taking is an important behavioural trait to consider in the study of dispersal evolution. © 2017 The Author(s).

  20. Population genetic evidence for positive and purifying selection acting at the human IFN-γ locus in Africa.

    Science.gov (United States)

    Campbell, Michael C; Smith, Lunden T; Harvey, Jayla

    2018-03-29

    Despite its critical role in the defense against microbial infection and tumor development, little is known about the range of nucleotide and haplotype variation at IFN-γ, or the evolutionary forces that have shaped patterns of diversity at this locus. To address this gap in knowledge, we examined sequence data from the IFN-γ gene in 1461 individuals from 15 worldwide populations. Our analyses uncovered novel patterns of variation in distinct African populations, including an excess of high frequency-derived alleles, unusually long haplotype structure surrounding the IFN-γ gene, and a "star-like" genealogy of African-specific haplotypes carrying variants previously associated with infectious disease. We also inferred a deep time to coalescence of variation at IFN-γ (~ 0.8 million years ago) and ancient ages for common polymorphisms predating the evolution of modern humans. Taken together, these results are congruent with a model of positive selection on standing variation in African populations. Furthermore, we inferred that common variants in intron 3 of IFN-γ are the likely targets of selection. In addition, we observed a paucity of non-synonymous substitutions relative to synonymous changes in the exons of IFN-γ in African and non-African populations, suggestive of strong purifying selection. Therefore, we contend that positive and purifying selection have influenced levels of diversity in different regions of IFN-γ, implying that these distinct genic regions are, or have been, functionally important. Overall, this study provides additional insights into the evolutionary events that have contributed to the frequency and distribution of alleles having a role in human health and disease.

  1. Multivariate imaging-genetics study of MRI gray matter volume and SNPs reveals biological pathways correlated with brain structural differences in Attention Deficit Hyperactivity Disorder

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    Sabin Khadka

    2016-07-01

    Full Text Available Background: Attention Deficit Hyperactivity Disorder (ADHD is a prevalent neurodevelopmental disorder affecting children, adolescents, and adults. Its etiology is not well-understood, but it is increasingly believed to result from diverse pathophysiologies that affect the structure and function of specific brain circuits. Although one of the best-studied neurobiological abnormalities in ADHD is reduced fronto-striatal-cerebellar gray matter volume, its specific genetic correlates are largely unknown. Methods: In this study, T1-weighted MR images of brain structure were collected from 198 adolescents (63 ADHD-diagnosed. A multivariate parallel independent component analysis technique (Para-ICA identified imaging-genetic relationships between regional gray matter volume and single nucleotide polymorphism data. Results: Para-ICA analyses extracted 14 components from genetic data and 9 from MR data. An iterative cross-validation using randomly-chosen sub-samples indicated acceptable stability of these ICA solutions. A series of partial correlation analyses controlling for age, sex, and ethnicity revealed two genotype-phenotype component pairs significantly differed between ADHD and non-ADHD groups, after a Bonferroni correction for multiple comparisons. The brain phenotype component not only included structures frequently found to have abnormally low volume in previous ADHD studies, but was also significantly associated with ADHD differences in symptom severity and performance on cognitive tests frequently found to be impaired in patients diagnosed with the disorder. Pathway analysis of the genotype component identified several different biological pathways linked to these structural abnormalities in ADHD. Conclusions: Some of these pathways implicate well-known dopaminergic neurotransmission and neurodevelopment hypothesized to be abnormal in ADHD. Other more recently implicated pathways included glutamatergic and GABA-eric physiological systems

  2. Meta-GWAS Accuracy and Power (MetaGAP Calculator Shows that Hiding Heritability Is Partially Due to Imperfect Genetic Correlations across Studies.

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    Ronald de Vlaming

    2017-01-01

    Full Text Available Large-scale genome-wide association results are typically obtained from a fixed-effects meta-analysis of GWAS summary statistics from multiple studies spanning different regions and/or time periods. This approach averages the estimated effects of genetic variants across studies. In case genetic effects are heterogeneous across studies, the statistical power of a GWAS and the predictive accuracy of polygenic scores are attenuated, contributing to the so-called 'missing heritability'. Here, we describe the online Meta-GWAS Accuracy and Power (MetaGAP calculator (available at www.devlaming.eu which quantifies this attenuation based on a novel multi-study framework. By means of simulation studies, we show that under a wide range of genetic architectures, the statistical power and predictive accuracy provided by this calculator are accurate. We compare the predictions from the MetaGAP calculator with actual results obtained in the GWAS literature. Specifically, we use genomic-relatedness-matrix restricted maximum likelihood to estimate the SNP heritability and cross-study genetic correlation of height, BMI, years of education, and self-rated health in three large samples. These estimates are used as input parameters for the MetaGAP calculator. Results from the calculator suggest that cross-study heterogeneity has led to attenuation of statistical power and predictive accuracy in recent large-scale GWAS efforts on these traits (e.g., for years of education, we estimate a relative loss of 51-62% in the number of genome-wide significant loci and a relative loss in polygenic score R2 of 36-38%. Hence, cross-study heterogeneity contributes to the missing heritability.

  3. Serum TGF-beta2 and TGF-beta3 are increased and positively correlated to pain, functionality, and radiographic staging in osteoarthritis.

    Science.gov (United States)

    Kapetanakis, Stilianos; Drygiannakis, Ioannis; Kazakos, Kostantinos; Papanas, Nikolaos; Kolios, George; Kouroumalis, Elias; Verettas, Dionysios-Alexandros

    2010-08-11

    The goal of this study was to verify or reject the hypothesis that systematic differences exist in various profibrotic or antifibrotic factors between osteoarthritic patients and controls, as well as between different stages of osteoarthritis. The study group comprised 63 patients with knee osteoarthritis and 18 controls. Transforming growth factor-beta (TGF-beta)1, -2, -3; tissue inhibitor of metalloproteinase (TIMP)-1 protein levels; and gelatinolytic activity of matrix metalloproteinase (MMP)-1, -2, -3, -9 activities were measured by enzyme-linked immunosorbent assay and gelatin zymography, respectively. Visual analog scale scores, Western Ontario and McMaster Universities Arthritis Index (WOMAC) scores, Lequesne clinical osteoarthritis scales, and Kellgren-Lawrence radiographic grading were recorded for each patient.Transforming growth factor-beta2 and -3 (in contrast to TGF-beta1 and TIMP-1) serum protein levels were significantly higher in osteoarthritic patients compared to controls (210%+/-14% [P<.001] and 232%+/-7% [P<10(-7)], respectively). Additionally, TGF-beta2 and -3 were strongly positively correlated to Kellgren-Lawrence radiographic grading of the disease (P<10(-5) and P<10(-7), respectively). Moreover, TGF-beta2 correlated positively with the WOMAC scale (P=.007). However, TIMP-1 decreased as osteoarthritis progressed clinically, but remained irrelevant to radiographic staging. Furthermore, activities of MMP-2 and -9, but not MMP-1+/-3, were lower in patients with osteoarthritis. Copyright 2010, SLACK Incorporated.

  4. Identifying QTL and genetic correlations between fur quality traits in mink (Neovison vison)

    DEFF Research Database (Denmark)

    Thirstrup, Janne Pia; Anistoroaei, Razvan Marian; Guldbrandtsen, Bernt

    2014-01-01

    Mapping of QTL affecting fur quality traits (guard hair length, guard hair thickness, density of wool, surface of the fur and quality) and skin length was performed in a three-generation mink population (F2 design). In the parental generation, Nordic Brown mink were crossed reciprocally with Amer......Mapping of QTL affecting fur quality traits (guard hair length, guard hair thickness, density of wool, surface of the fur and quality) and skin length was performed in a three-generation mink population (F2 design). In the parental generation, Nordic Brown mink were crossed reciprocally...... with American Black short nap mink. In all, 1082 mink encompassing three generations were used for the analyses. The mink were genotyped for 104 microsatellites covering all 14 autosomes. The QTL analyses were performed by least-square regression implemented in gridqtl software. Genetic and phenotypic...

  5. Genome-wide SNP identification by high-throughput sequencing and selective mapping allows sequence assembly positioning using a framework genetic linkage map

    Directory of Open Access Journals (Sweden)

    Xu Xiangming

    2010-12-01

    Full Text Available Abstract Background Determining the position and order of contigs and scaffolds from a genome assembly within an organism's genome remains a technical challenge in a majority of sequencing projects. In order to exploit contemporary technologies for DNA sequencing, we developed a strategy for whole genome single nucleotide polymorphism sequencing allowing the positioning of sequence contigs onto a linkage map using the bin mapping method. Results The strategy was tested on a draft genome of the fungal pathogen Venturia inaequalis, the causal agent of apple scab, and further validated using sequence contigs derived from the diploid plant genome Fragaria vesca. Using our novel method we were able to anchor 70% and 92% of sequences assemblies for V. inaequalis and F. vesca, respectively, to genetic linkage maps. Conclusions We demonstrated the utility of this approach by accurately determining the bin map positions of the majority of the large sequence contigs from each genome sequence and validated our method by mapping single sequence repeat markers derived from sequence contigs on a full mapping population.

  6. Vitamin K-dependent proteins GAS6 and Protein S and TAM receptors in patients of systemic lupus erythematosus: correlation with common genetic variants and disease activity.

    Science.gov (United States)

    Recarte-Pelz, Pedro; Tàssies, Dolors; Espinosa, Gerard; Hurtado, Begoña; Sala, Núria; Cervera, Ricard; Reverter, Joan Carles; de Frutos, Pablo García

    2013-03-12

    Growth arrest-specific gene 6 protein (GAS6) and protein S (ProS) are vitamin K-dependent proteins present in plasma with important regulatory functions in systems of response and repair to damage. They interact with receptor tyrosine kinases of the Tyro3, Axl and MerTK receptor tyrosine kinase (TAM) family, involved in apoptotic cell clearance (efferocytosis) and regulation of the innate immunity. TAM-deficient mice show spontaneous lupus-like symptoms. Here we tested the genetic profile and plasma levels of components of the system in patients with systemic lupus erythematosus (SLE), and compare them with a control healthy population. Fifty SLE patients and 50 healthy controls with matched age, gender and from the same geographic area were compared. Genetic analysis was performed in GAS6 and the TAM receptor genes on SNPs previously identified. The concentrations of GAS6, total and free ProS, and the soluble forms of the three TAM receptors (sAxl, sMerTK and sTyro3) were measured in plasma from these samples. Plasma concentrations of GAS6 were higher and, total and free ProS were lower in the SLE patients compared to controls, even when patients on oral anticoagulant treatment were discarded. Those parameters correlated with SLE disease activity index (SLEDAI) score, GAS6 being higher in the most severe cases, while free and total ProS were lower. All 3 soluble receptors increased its concentration in plasma of lupus patients. The present study highlights that the GAS6/ProS-TAM system correlates in several ways with disease activity in SLE. We show here that this correlation is affected by common polymorphisms in the genes of the system. These findings underscore the importance of mechanism of regulatory control of innate immunity in the pathology of SLE.

  7. Correlation between tuberculin skin test and IGRAs with risk factors for the spread of infection in close contacts with sputum smear positive in pulmonary tuberculosis.

    Science.gov (United States)

    de Souza-Galvão, Maria Luiza; Latorre, Irene; Altet-Gómez, Neus; Jiménez-Fuentes, María Ángeles; Milà, Celia; Solsona, Jordi; Seminario, Maria Asunción; Cantos, Adela; Ruiz-Manzano, Juan; Domínguez, José

    2014-05-13

    The aim of the study was to assess the correlation between the tuberculin skin test (TST) and in vitro interferon-gamma released assays (IGRAs) with risk factors for the spread of infection in smear positive pulmonary tuberculosis (TB) contacts. We recruited prospective contacts with smear positive pulmonary TB cases. We looked at human immunodeficiency virus (HIV) infection and other conditions of immunosuppression, presence of BCG vaccination and the degree of exposure to the index case. Patients underwent the TST, chest radiography, sputum analysis when necessary, and IGRA assays (QFN-G-IT and T-SPOT.TB). Presence of cough, diagnostic delay (days between first symptoms and TB diagnostic), contact conditions: room size (square meters) and index of overcrowding (square meters per person) were investigated in the index case. 156 contacts (119 adults, 37 children) of 66 TB patients were enrolled, 2.4 (1-14) contacts per TB case. The positivity of the TST did not correlate with the risk factors studied: presence of cough (p = 0.929); delayed diagnosis (p = 0.244); room size (p = 0.462); overcrowding (p = 0.800). Both QFN-G-IT and T-SPOT.TB, showed significant association with cough (p = 0.001, and p = 0.007) and room size (p = 0.020, and p = 0.023), respectively. Both IGRA associated better than TST with certain host-related risk factors involved in the transmission of disease, such as the presence of cough.

  8. ERBB2 in Cat Mammary Neoplasias Disclosed a Positive Correlation between RNA and Protein Low Expression Levels: A Model for erbB-2 Negative Human Breast Cancer

    Science.gov (United States)

    Abreu, Rui M. V.; Bastos, Estela; Amorim, Irina; Gut, Ivo G.; Gärtner, Fátima; Chaves, Raquel

    2013-01-01

    Human ERBB2 is a proto-oncogene that codes for the erbB-2 epithelial growth factor receptor. In human breast cancer (HBC), erbB-2 protein overexpression has been repeatedly correlated with poor prognosis. In more recent works, underexpression of this gene has been described in HBC. Moreover, it is also recognised that oncogenes that are commonly amplified or deleted encompass point mutations, and some of these are associated with HBC. In cat mammary lesions (CMLs), the overexpression of ERBB2 (27%–59.6%) has also been described, mostly at the protein level and although cat mammary neoplasias are considered to be a natural model of HBC, molecular information is still scarce. In the present work, a cat ERBB2 fragment, comprising exons 10 to 15 (ERBB2_10–15) was achieved for the first time. Allelic variants and genomic haplotype analyses were also performed, and differences between normal and CML populations were observed. Three amino acid changes, corresponding to 3 non-synonymous genomic sequence variants that were only detected in CMLs, were proposed to damage the 3D structure of the protein. We analysed the cat ERBB2 gene at the DNA (copy number determination), mRNA (expression levels assessment) and protein levels (in extra- and intra protein domains) in CML samples and correlated the last two evaluations with clinicopathological features. We found a positive correlation between the expression levels of the ERBB2 RNA and erbB-2 protein, corresponding to the intracellular region. Additionally, we detected a positive correlation between higher mRNA expression and better clinical outcome. Our results suggest that the ERBB2 gene is post-transcriptionally regulated and that proteins with truncations and single point mutations are present in cat mammary neoplastic lesions. We would like to emphasise that the recurrent occurrence of low erbB-2 expression levels in cat mammary tumours, suggests the cat mammary neoplasias as a valuable model for erbB-2 negative HBC

  9. A selfish genetic element influencing longevity correlates with reactive behavioural traits in female house mice (Mus domesticus.

    Directory of Open Access Journals (Sweden)

    Yannick Auclair

    Full Text Available According to theory in life-history and animal personality, individuals with high fitness expectations should be risk-averse, while individuals with low fitness expectations should be more bold. In female house mice, a selfish genetic element, the t haplotype, is associated with increased longevity under natural conditions, representing an appropriate case study to investigate this recent theory empirically. Following theory, females heterozygous for the t haplotype (+/t are hypothesised to express more reactive personality traits and be more shy, less explorative and less active compared to the shorter-lived homozygous wildtype females (+/+. As males of different haplotype do not differ in survival, no similar pattern is expected. We tested these predictions by quantifying boldness, exploration, activity, and energetic intake in both +/t and +/+ mice. +/t females, unlike +/+ ones, expressed some reactive-like personality traits: +/t females were less active, less prone to form an exploratory routine and tended to ingest less food. Taken together these results suggest that differences in animal personality may contribute to the survival advantage observed in +/t females but fail to provide full empirical support for recent theory.

  10. Wall paintings facies and their possible genetic correlates in the ancient Pompeii: A bio-anthropologic message from the past?

    Science.gov (United States)

    Ponti, Giovanni; Manfredini, Marco; Ruini, Cristel

    2016-09-10

    The figurative arts and precisely the ancient Pompeian wall paintings portraits can provide an additional source of information in supplementing bio-anthropological studies. There are several genetic diseases with a wide spectrum of congenital bone stigmata in association to distinctive facial features. Gorlin-Goltz syndrome, also named nevoid basal cell carcinoma syndrome, is an autosomal dominant syndrome characterized by unusual skeletal changes, such as macrocephaly, facial asymmetry, hypertelorism, frontal and parietal bossing caused by germline mutations of the gene PTCH1. The Gorlin syndrome, clinically defined in 1963, existed during Dynastic Egyptian times, as revealed by a spectrum of skeletal findings compatible with the syndrome in mummies dating back to three thousand years ago and, most likely, in the ancient population of Pompeii. In the present research, we discuss the potential relationship between Pompeian wall paintings portrait and the cranio-metric bone changes revealed among the Pompeian skull collections assuming that the ancient portraits can constitute an important tool that should be strictly integrated with osteologic and biomolecular data in order to argue a syndromic diagnosis in ancient population. Copyright © 2016 Elsevier B.V. All rights reserved.

  11. Effect of environmental and genetic factors on the correlation and stability of grain yield components in wheat

    Directory of Open Access Journals (Sweden)

    Hristov Nikola

    2011-01-01

    Full Text Available More effective breeding and development of new wheat genotypes depend on an intricate analysis of the complex relationships among many different traits. The objective of this paper was to determine the interrelationship, direct and indirect effects, and stability of different yield components in wheat. Forty divergent genotypes were analyzed in a three- year study (2005-2007. Highly significant correlations were found between grain yield per plant and all the other traits analyzed except spike length, with the only negative correlation being that with plant height. Path analysis revealed highly significant direct effects of grain number per spike, grain mass per spike and 1000 grain weight on grain yield per plant. Analysis of stability parameters showed that the stability of grain yield per plant depended for the most part on the stability of grain number per spike, grain mass per spike and harvest index. Cluster analysis identified genotypes with a high performance for grain yield per plant and good stability parameters, indicating the possibility of developing wheat varieties with a high potential and high stability for a particular trait.

  12. High-accuracy and real-time 3D positioning, tracking system for medical imaging applications based on 3D digital image correlation

    Science.gov (United States)

    Xue, Yuan; Cheng, Teng; Xu, Xiaohai; Gao, Zeren; Li, Qianqian; Liu, Xiaojing; Wang, Xing; Song, Rui; Ju, Xiangyang; Zhang, Qingchuan

    2017-01-01

    This paper presents a system for positioning markers and tracking the pose of a rigid object with 6 degrees of freedom in real-time using 3D digital image correlation, with two examples for medical imaging applications. Traditional DIC method was improved to meet the requirements of the real-time by simplifying the computations of integral pixel search. Experiments were carried out and the results indicated that the new method improved the computational efficiency by about 4-10 times in comparison with the traditional DIC method. The system was aimed for orthognathic surgery navigation in order to track the maxilla segment after LeFort I osteotomy. Experiments showed noise for the static point was at the level of 10-3 mm and the measurement accuracy was 0.009 mm. The system was demonstrated on skin surface shape evaluation of a hand for finger stretching exercises, which indicated a great potential on tracking muscle and skin movements.

  13. Positive correlation between Aeromonas salmonicida vaccine antigen concentration and protection in vaccinated rainbow trout Oncorhynchus mykiss evaluated by a tail fin infection model

    DEFF Research Database (Denmark)

    Marana, M. H.; Skov, J.; Chettri, Jiwan Kumar

    2017-01-01

    Rainbow trout, Oncorhynchus mykiss (Walbaum), are able to raise a protective immune response against Aeromonas salmonicida subsp. salmonicida (AS) following injection vaccination with commercial vaccines containing formalin-killed bacteria, but the protection is often suboptimal under Danish...... mariculture conditions. We elucidated whether protection can be improved by increasing the concentration of antigen (formalin-killed bacteria) in the vaccine. Rainbow trout juveniles were vaccinated by intraperitoneal (i.p.) injection with a bacterin of Aeromonas salmonicida subsp. salmonicida strain 090710...... bacteria. The infection method proved to be efficient and could differentiate efficacies of different vaccines. It was shown that protection and antibody production in exposed fish were positively correlated to the AS antigen concentration in the vaccine....

  14. Correlations Between the Density of Tryptase Positive Mast Cells (DMCT and that of New Blood Vessels (CD105+ in Patients with Gastric Cancer

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    Micu Gianina Viorica

    2016-06-01

    Full Text Available Mast cells proteases, tryptase and chymase are directly involved in the growth and progression of solid tumors due to their important role in tumor angiogenesis. We examined the density of tryptase positive mast cells and the mean density of new blood vessels in gastric malignant tumors of patients with and without Helicobacter pylori infection, using immunohistochemical staining for tryptase (for mast cells and CD 105 (for new vessels. Tryptase and CD 105 expression was detected in gastrectomy specimens. In this study, mast cell density correlates with angiogenesis and the growth and progression of gastric cancer. It also shows that the participation of Helicobacter pylori infection in the growth and progress of gastric neoplasia is due to an increase of peritumoral angiogenesis, with subsequent local and distant tumor spread and perivascular growth, but without perineural and nodal involvement.

  15. Human Genetic Ancestral Composition Correlates with the Origin of Mycobacterium leprae Strains in a Leprosy Endemic Population.

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    Nora Cardona-Castro

    Full Text Available Recent reports have suggested that leprosy originated in Africa, extended to Asia and Europe, and arrived in the Americas during European colonization and the African slave trade. Due to colonization, the contemporary Colombian population is an admixture of Native-American, European and African ancestries. Because microorganisms are known to accompany humans during migrations, patterns of human migration can be traced by examining genomic changes in associated microbes. The current study analyzed 118 leprosy cases and 116 unrelated controls from two Colombian regions endemic for leprosy (Atlantic and Andean in order to determine possible associations of leprosy with patient ancestral background (determined using 36 ancestry informative markers, Mycobacterium leprae genotype and/or patient geographical origin. We found significant differences between ancestral genetic composition. European components were predominant in Andean populations. In contrast, African components were higher in the Atlantic region. M. leprae genotypes were then analyzed for cluster associations and compared with the ancestral composition of leprosy patients. Two M. leprae principal clusters were found: haplotypes C54 and T45. Haplotype C54 associated with African origin and was more frequent in patients from the Atlantic region with a high African component. In contrast, haplotype T45 associated with European origin and was more frequent in Andean patients with a higher European component. These results suggest that the human and M. leprae genomes have co-existed since the African and European origins of the disease, with leprosy ultimately arriving in Colombia during colonization. Distinct M. leprae strains followed European and African settlement in the country and can be detected in contemporary Colombian populations.

  16. Human Genetic Ancestral Composition Correlates with the Origin of Mycobacterium leprae Strains in a Leprosy Endemic Population.

    Science.gov (United States)

    Cardona-Castro, Nora; Cortés, Edwin; Beltrán, Camilo; Romero, Marcela; Badel-Mogollón, Jaime E; Bedoya, Gabriel

    2015-01-01

    Recent reports have suggested that leprosy originated in Africa, extended to Asia and Europe, and arrived in the Americas during European colonization and the African slave trade. Due to colonization, the contemporary Colombian population is an admixture of Native-American, European and African ancestries. Because microorganisms are known to accompany humans during migrations, patterns of human migration can be traced by examining genomic changes in associated microbes. The current study analyzed 118 leprosy cases and 116 unrelated controls from two Colombian regions endemic for leprosy (Atlantic and Andean) in order to determine possible associations of leprosy with patient ancestral background (determined using 36 ancestry informative markers), Mycobacterium leprae genotype and/or patient geographical origin. We found significant differences between ancestral genetic composition. European components were predominant in Andean populations. In contrast, African components were higher in the Atlantic region. M. leprae genotypes were then analyzed for cluster associations and compared with the ancestral composition of leprosy patients. Two M. leprae principal clusters were found: haplotypes C54 and T45. Haplotype C54 associated with African origin and was more frequent in patients from the Atlantic region with a high African component. In contrast, haplotype T45 associated with European origin and was more frequent in Andean patients with a higher European component. These results suggest that the human and M. leprae genomes have co-existed since the African and European origins of the disease, with leprosy ultimately arriving in Colombia during colonization. Distinct M. leprae strains followed European and African settlement in the country and can be detected in contemporary Colombian populations.

  17. Pollen gene flow, male reproductive success, and genetic correlations among offspring in a northern red oak (Quercus rubra L.) seed orchard

    Science.gov (United States)

    Woeste, Keith

    2017-01-01

    Northern red oak is a high-value hardwood used for lumber, furniture and veneer. Intensively managed northern red oak seed orchards are required to obtain genetic gain for trait improvement. Data from conifer seed orchards and natural and managed stands of hardwood trees have shed light on the distance over which pollen can move, and underscore the need for managerial attention to seed orchard design, placement, and maintenance. We used eleven microsatellite markers to investigate pollen gene flow, female mate choice, and male reproductive success in a clonal seed orchard of northern red oak based on paternity analysis of seed orchard offspring in progeny tests. Nearly all (93%) offspring were sired by a male parent within the seed orchard. The mean number of male parents per year was 69.5, or 47.6% of all clones in the seed orchard. Female clones in the early phenology group had more offspring sired from extra-orchard pollen (13%) than clones in the intermediate (5%) and late (1%) phenology groups. Distance was the largest influence on pollination success, and pollination occurred most often by male trees in the same subline as the maternal tree. Males in the early phenology group sired more offspring overall in the progeny pool and more offspring per mother tree than males in the intermediate or late phenology groups. Average genetic correlations among all OP progeny ranged between 0.2557 and 0.3529 with a mean of 0.28±0.01. The importance of progeny test genotyping for northern red oak improvement likely is increasing with the demand for improved varieties. The current study demonstrated the feasibility of post hoc assembly of full-sib families for genetic analysis. PMID:28166543

  18. Identification of BDNF sensitive electrophysiological markers of synaptic activity and their structural correlates in healthy subjects using a genetic approach utilizing the functional BDNF Val66Met polymorphism.

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    Fruzsina Soltész

    Full Text Available Increasing evidence suggests that synaptic dysfunction is a core pathophysiological hallmark of neurodegenerative disorders. Brain-derived neurotropic factor (BDNF is key synaptogenic molecule and targeting synaptic repair through modulation of BDNF signalling has been suggested as a potential drug discovery strategy. The development of such "synaptogenic" therapies depend on the availability of BDNF sensitive markers of synaptic function that could be utilized as biomarkers for examining target engagement or drug efficacy in humans. Here we have utilized the BDNF Val66Met genetic polymorphism to examine the effect of the polymorphism and genetic load (i.e. Met allele load on electrophysiological (EEG markers of synaptic activity and their structural (MRI correlates. Sixty healthy adults were prospectively recruited into the three genetic groups (Val/Val, Val/Met, Met/Met. Subjects also underwent fMRI, tDCS/TMS, and cognitive assessments as part of a larger study. Overall, some of the EEG markers of synaptic activity and brain structure measured with MRI were the most sensitive markers of the polymorphism. Met carriers showed decreased oscillatory activity and synchrony in the neural network subserving error-processing, as measured during a flanker task (ERN; and showed increased slow-wave activity during resting. There was no evidence for a Met load effect on the EEG measures and the polymorphism had no effects on MMN and P300. Met carriers also showed reduced grey matter volume in the anterior cingulate and in the (left prefrontal cortex. Furthermore, anterior cingulate grey matter volume, and oscillatory EEG power during the flanker task predicted subsequent behavioural adaptation, indicating a BDNF dependent link between brain structure, function and behaviour associated with error processing and monitoring. These findings suggest that EEG markers such as ERN and resting EEG could be used as BDNF sensitive functional markers in early

  19. Novel model of neuronal bioenergetics: postsynaptic utilization of glucose but not lactate correlates positively with Ca2+ signalling in cultured mouse glutamatergic neurons.

    Science.gov (United States)

    Bak, Lasse K; Obel, Linea F; Walls, Anne B; Schousboe, Arne; Faek, Sevan A A; Jajo, Farah S; Waagepetersen, Helle S

    2012-04-05

    We have previously investigated the relative roles of extracellular glucose and lactate as fuels for glutamatergic neurons during synaptic activity. The conclusion from these studies was that cultured glutamatergic neurons utilize glucose rather than lactate during NMDA (N-methyl-d-aspartate)-induced synaptic activity and that lactate alone is not able to support neurotransmitter glutamate homoeostasis. Subsequently, a model was proposed to explain these results at the cellular level. In brief, the intermittent rises in intracellular Ca2+ during activation cause influx of Ca2+ into the mitochondrial matrix thus activating the tricarboxylic acid cycle dehydrogenases. This will lead to a lower activity of the MASH (malate-aspartate shuttle), which in turn will result in anaerobic glycolysis and lactate production rather than lactate utilization. In the present work, we have investigated the effect of an ionomycin-induced increase in intracellular Ca2+ (i.e. independent of synaptic activity) on neuronal energy metabolism employing 13C-labelled glucose and lactate and subsequent mass spectrometric analysis of labelling in glutamate, alanine and lactate. The results demonstrate that glucose utilization is positively correlated with intracellular Ca2+ whereas lactate utilization is not. This result lends further support for a significant role of glucose in neuronal bioenergetics and that Ca2+ signalling may control the switch between glucose and lactate utilization during synaptic activity. Based on the results, we propose a compartmentalized CiMASH (Ca2+-induced limitation of the MASH) model that includes intracellular compartmentation of glucose and lactate metabolism. We define pre- and post-synaptic compartments metabolizing glucose and glucose plus lactate respectively in which the latter displays a positive correlation between oxidative metabolism of glucose and Ca2+ signalling.

  20. Plasma bile acids show a positive correlation with body mass index and are negatively associated with cognitive restraint of eating in obese patients

    Directory of Open Access Journals (Sweden)

    Philip ePrinz

    2015-06-01

    Full Text Available Bile acids may be involved in the regulation of food intake and energy metabolism. The aim of the study was to investigate the association of plasma bile acids with body mass index (BMI and the possible involvement of circulating bile acids in the modulation of physical activity and eating behavior. Blood was obtained in a group of hospitalized patients with normal weight (BMI 18.5-25 kg/m2, underweight (anorexia nervosa, BMI 50 kg/m2, n=14-15/group and plasma bile acid concentrations assessed. Physical activity and plasma bile acids were measured in a group of patients with anorexia nervosa (BMI 14.6±0.3 kg/m2, n=43. Lastly, in a population of obese patients (BMI 48.5±0.9 kg/m2, n=85, psychometric parameters related to disordered eating and plasma bile acids were assessed. Plasma bile acids showed a positive correlation with BMI (r=0.26, p=0.03 in the population of patients with broad range of BMI (9-85 kg/m2, n=74. No associations were observed between plasma bile acids and different parameters of physical activity in anorexic patients (p>0.05. Plasma bile acids were negatively correlated with cognitive restraint of eating (r=-0.30, p=0.008, while no associations were observed with other psychometric eating behavior-related parameters (p>0.05 in obese patients. In conclusion, these data may point towards a role of bile acids in the regulation of body weight. Since plasma bile acids are negatively correlated with the cognitive restraint of eating in obese patients, this may represent a compensatory adaptation to prevent further overeating.

  1. A Preliminary Study of DBH (Encoding Dopamine Beta-Hydroxylase) Genetic Variation and Neural Correlates of Emotional and Motivational Processing in Individuals With and Without Pathological Gambling.

    Science.gov (United States)

    Yang, Bao-Zhu; Balodis, Iris M; Lacadie, Cheryl M; Xu, Jiansong; Potenza, Marc N

    2016-06-01

    Background and aims Corticostriatal-limbic neurocircuitry, emotional and motivational processing, dopaminergic and noradrenergic systems and genetic factors have all been implicated in pathological gambling (PG). However, allelic variants of genes influencing dopaminergic and noradrenergic neurotransmitters have not been investigated with respect to the neural correlates of emotional and motivational states in PG. Dopamine beta-hydroxylase (DBH) converts dopamine to norepinephrine; the T allele of a functional single-nucleotide polymorphism rs1611115 (C-1021T) in the DBH gene is associated with less DBH activity and has been linked to emotional processes and addiction. Here, we investigate the influence of rs1611115 on the neural correlates of emotional and motivational processing in PG and healthy comparison (HC) participants. Methods While undergoing functional magnetic resonance imaging, 18 PG and 25 HC participants, all European Americans, viewed gambling-, sad-, and cocaine-related videotapes. Analyses focused on brain activation differences related to DBH genotype (CC/T-carrier [i.e., CT and TT]) and condition (sad/gambling/cocaine). Results CC participants demonstrated greater recruitment of corticostriatal-limbic regions, relative to T-carriers. DBH variants were also associated with altered corticostriatal-limbic activations across the different videotape conditions, and this association appeared to be driven by greater activation in CC participants relative to T-carriers during the sad condition. CC relative to T-carrier subjects also reported greater subjective sadness to the sad videotapes. Conclusions Individual differences in genetic composition linked to aminergic function contribute significantly to emotional regulation across diagnostic groups and warrant further investigation in PG.

  2. Crystal Genetics, Inc.

    Science.gov (United States)

    Kermani, Bahram G

    2016-07-01

    Crystal Genetics, Inc. is an early-stage genetic test company, focused on achieving the highest possible clinical-grade accuracy and comprehensiveness for detecting germline (e.g., in hereditary cancer) and somatic (e.g., in early cancer detection) mutations. Crystal's mission is to significantly improve the health status of the population, by providing high accuracy, comprehensive, flexible and affordable genetic tests, primarily in cancer. Crystal's philosophy is that when it comes to detecting mutations that are strongly correlated with life-threatening diseases, the detection accuracy of every single mutation counts: a single false-positive error could cause severe anxiety for the patient. And, more importantly, a single false-negative error could potentially cost the patient's life. Crystal's objective is to eliminate both of these error types.

  3. Genetic Relationships of Carcass Traits with Retail Cut Productivity of Hanwoo Cattle

    Directory of Open Access Journals (Sweden)

    Daeyoung Koh

    2014-10-01

    Full Text Available This study aimed to estimate genetic correlation between carcass grading and retail productivity traits and to estimate the correlated response on retail productivity traits through selection for carcass grading traits in order to assess the efficacy of indirect selection. Genetic parameters were estimated with the data from 4240 Hanwoo steers using mixed models, and phenotypes included carcass weight (CWT, back fat thickness (BFT, eye muscle area (EMA, marbling (MAR, and estimated lean yield percentage (ELP as the carcass grading traits, and weight and portion of retail cuts (RCW and RCP, trimmed fats (TFW and TFP and trimmed bones (TBW and TBP as the lean productivity traits. The CWT had positive genetic correlations with RCW (0.95 and TFW (0.73, but its genetic correlation with RCP was negligible (0.02. The BFT was negatively correlated with RCP (−0.63, but positively correlated with TFW and TFP (0.77 and 0.70. Genetic correlations of MAR with TFW and TFP were low. Among the carcass grading traits, only EMA was positively correlated with both RCW (0.60 and RCP (0.72. The EMA had a relatively strong negative genetic correlation with TFW (−0.64. The genetic correlation coefficients of ELP with RCP, TFW, and TFP were 0.76, −0.90, and −0.82, respectively. These correlation coefficients suggested that the ELP and EMA might be favorable traits in regulating lean productivity of carcass.

  4. Correlation of Internet Use for Health Care Engagement Purposes and HIV Clinical Outcomes Among HIV-Positive Individuals Using Online Social Media.

    Science.gov (United States)

    Saberi, Parya; Johnson, Mallory O

    2015-01-01

    The authors aimed to describe cell phone and Internet use and assess the correlation of Internet use for health care engagement purposes and HIV clinical outcomes among HIV-positive individuals. The authors conducted a national survey using online social media to examine cell phone and Internet use, self-reported HIV viral load (detectable vs. undetectable), and antiretroviral adherence rating (excellent vs. less than excellent). Participants (N = 1,494) were asked about their Internet use for health care engagement purposes (including e-mailing health care providers, refilling medications online, and making medical appointments online). Approximately 95% of participants accessed the Internet nearly daily or daily in the past month (mean hours on Internet use per day = 5.2) and 55.5% used the Internet for health care engagement purposes. Those who used the Internet for any health care engagement purposes had a 1.52-fold odds of reporting an undetectable viral load (p = .009) and a 1.49-fold odds of reporting excellent adherence (p = .001). Although Internet access and use were similar across racial/ethnic, educational, and socioeconomic groups, disparities existed with the use of the Internet for health care engagement purposes among racial/ethnic minorities, those with low to moderate financial stability, lower education, and history of incarceration. The authors' data reveal that among HIV-positive users of online social media, use of the Internet for health care engagement purposes is associated with better self-reported virologic and adherence outcomes.

  5. Genetics and intelligence differences: five special findings

    Science.gov (United States)

    Plomin, R; Deary, I J

    2015-01-01

    Intelligence is a core construct in differential psychology and behavioural genetics, and should be so in cognitive neuroscience. It is one of the best predictors of important life outcomes such as education, occupation, mental and physical health and illness, and mortality. Intelligence is one of the most heritable behavioural traits. Here, we highlight five genetic findings that are special to intelligence differences and that have important implications for its genetic architecture and for gene-hunting expeditions. (i) The heritability of intelligence increases from about 20% in infancy to perhaps 80% in later adulthood. (ii) Intelligence captures genetic effects on diverse cognitive and learning abilities, which correlate phenotypically about 0.30 on average but correlate genetically about 0.60 or higher. (iii) Assortative mating is greater for intelligence (spouse correlations ~0.40) than for other behavioural traits such as personality and psychopathology (~0.10) or physical traits such as height and weight (~0.20). Assortative mating pumps additive genetic variance into the population every generation, contributing to the high narrow heritability (additive genetic variance) of intelligence. (iv) Unlike psychiatric disorders, intelligence is normally distributed with a positive end of exceptional performance that is a model for ‘positive genetics'. (v) Intelligence is associated with education and social class and broadens the causal perspectives on how these three inter-correlated variables contribute to social mobility, and health, illness and mortality differences. These five findings arose primarily from twin studies. They are being confirmed by the first new quantitative genetic technique in a century—Genome-wide Complex Trait Analysis (GCTA)—which estimates genetic influence using genome-wide genotypes in large samples of unrelated individuals. Comparing GCTA results to the results of twin studies reveals important insights into the genetic

  6. When public health and genetic privacy collide: positive and normative theories explaining how ACA's expansion of corporate wellness programs conflicts with GINA's privacy rules.

    Science.gov (United States)

    Bard, Jennifer S

    2011-01-01

    The Patient Protection and Affordable Care Act of 2010 (ACA) contains many provisions intended to increase access to and lower the cost of health care by adopting public health measures. One of these promotes the use of at-work wellness programs by both providing employers with grants to develop these programs and also increasing their ability to tie the price employees pay for health insurance for participating in these programs and meeting specific health goals. Yet despite ACA's specific alteration of three different statues which had in the past shielded employees from having to contribute to the cost of their health insurance based on their achieving employer-designated health markers, it chose to leave alone recently enacted rules implementing the Genetic Non-Discrimination Act (GINA), which prohibits employers from asking employees about their family health history in any context, including assessing their risk for setting wellness targets. This article reviews how both the changes made by ACA and the restrictions recently put place by GINA will affect the way employers are likely to structure Wellness Programs. It also considers how these changes reflect the competing social goals of both ACA, which seeks to expand access to the population by lowering costs, and GINA, which seeks to protect individuals from discrimination. It does so by analyzing both positive theories about how these new laws will function and normative theories explaining the likelihood of future friction between the interests of the population of the United States as a whole who are in need of increased and affordable access to health care, and of the individuals living in this country who risk discrimination, as science and medicine continue to make advances in linking genetic make-up to risk of future illness. © 2011 American Society of Law, Medicine & Ethics, Inc.

  7. Medical Students' Exposure to the Humanities Correlates with Positive Personal Qualities and Reduced Burnout: A Multi-Institutional U.S. Survey.

    Science.gov (United States)

    Mangione, Salvatore; Chakraborti, Chayan; Staltari, Giuseppe; Harrison, Rebecca; Tunkel, Allan R; Liou, Kevin T; Cerceo, Elizabeth; Voeller, Megan; Bedwell, Wendy L; Fletcher, Keaton; Kahn, Marc J

    2018-05-01

    Literature, music, theater, and visual arts play an uncertain and limited role in medical education. One of the arguments often advanced in favor of teaching the humanities refers to their capacity to foster traits that not only improve practice, but might also reduce physician burnout-an increasing scourge in today's medicine. Yet, research remains limited. To test the hypothesis that medical students with higher exposure to the humanities would report higher levels of positive physician qualities (e.g., wisdom, empathy, self-efficacy, emotional appraisal, spatial skills), while reporting lower levels of negative qualities that are detrimental to physician well-being (e.g., intolerance of ambiguity, physical fatigue, emotional exhaustion, and cognitive weariness). An online survey. All students enrolled at five U.S. medical schools during the 2014-2015 academic year were invited by email to take part in our online survey. Students reported their exposure to the humanities (e.g., music, literature, theater, visual arts) and completed rating scales measuring selected personal qualities. In all, 739/3107 medical students completed the survey (23.8%). Regression analyses revealed that exposure to the humanities was significantly correlated with positive personal qualities, including empathy (p humanities and both a higher level of students' positive qualities and a lower level of adverse traits. These findings may carry implications for medical school recruitment and curriculum design. "[Science and humanities are] twin berries on one stem, grievous damage has been done to both in regarding [them]... in any other light than complemental." (William Osler, Br Med J. 1919;2:1-7).

  8. A study of respiration-correlated cone-beam CT scans to correct target positioning errors in radiotherapy of thoracic cancer

    Energy Technology Data Exchange (ETDEWEB)

    Santoro, J. P.; McNamara, J.; Yorke, E.; Pham, H.; Rimner, A.; Rosenzweig, K. E.; Mageras, G. S. [Department of Medical Physics, Memorial Sloan Kettering Cancer Center, New York, New York 10065 (United States); Department of Radiation Oncology, Memorial Sloan Kettering Cancer Center, New York, New York 10065 (United States); Department of Medical Physics, Memorial Sloan Kettering Cancer Center, New York, New York 10065 (United States)

    2012-10-15

    Purpose: There is increasingly widespread usage of cone-beam CT (CBCT) for guiding radiation treatment in advanced-stage lung tumors, but difficulties associated with daily CBCT in conventionally fractionated treatments include imaging dose to the patient, increased workload and longer treatment times. Respiration-correlated cone-beam CT (RC-CBCT) can improve localization accuracy in mobile lung tumors, but further increases the time and workload for conventionally fractionated treatments. This study investigates whether RC-CBCT-guided correction of systematic tumor deviations in standard fractionated lung tumor radiation treatments is more effective than 2D image-based correction of skeletal deviations alone. A second study goal compares respiration-correlated vs respiration-averaged images for determining tumor deviations. Methods: Eleven stage II-IV nonsmall cell lung cancer patients are enrolled in an IRB-approved prospective off-line protocol using RC-CBCT guidance to correct for systematic errors in GTV position. Patients receive a respiration-correlated planning CT (RCCT) at simulation, daily kilovoltage RC-CBCT scans during the first week of treatment and weekly scans thereafter. Four types of correction methods are compared: (1) systematic error in gross tumor volume (GTV) position, (2) systematic error in skeletal anatomy, (3) daily skeletal corrections, and (4) weekly skeletal corrections. The comparison is in terms of weighted average of the residual GTV deviations measured from the RC-CBCT scans and representing the estimated residual deviation over the treatment course. In the second study goal, GTV deviations computed from matching RCCT and RC-CBCT are compared to deviations computed from matching respiration-averaged images consisting of a CBCT reconstructed using all projections and an average-intensity-projection CT computed from the RCCT. Results: Of the eleven patients in the GTV-based systematic correction protocol, two required no correction

  9. A study of respiration-correlated cone-beam CT scans to correct target positioning errors in radiotherapy of thoracic cancer

    International Nuclear Information System (INIS)

    Santoro, J. P.; McNamara, J.; Yorke, E.; Pham, H.; Rimner, A.; Rosenzweig, K. E.; Mageras, G. S.

    2012-01-01

    Purpose: There is increasingly widespread usage of cone-beam CT (CBCT) for guiding radiation treatment in advanced-stage lung tumors, but difficulties associated with daily CBCT in conventionally fractionated treatments include imaging dose to the patient, increased workload and longer treatment times. Respiration-correlated cone-beam CT (RC-CBCT) can improve localization accuracy in mobile lung tumors, but further increases the time and workload for conventionally fractionated treatments. This study investigates whether RC-CBCT-guided correction of systematic tumor deviations in standard fractionated lung tumor radiation treatments is more effective than 2D image-based correction of skeletal deviations alone. A second study goal compares respiration-correlated vs respiration-averaged images for determining tumor deviations. Methods: Eleven stage II–IV nonsmall cell lung cancer patients are enrolled in an IRB-approved prospective off-line protocol using RC-CBCT guidance to correct for systematic errors in GTV position. Patients receive a respiration-correlated planning CT (RCCT) at simulation, daily kilovoltage RC-CBCT scans during the first week of treatment and weekly scans thereafter. Four types of correction methods are compared: (1) systematic error in gross tumor volume (GTV) position, (2) systematic error in skeletal anatomy, (3) daily skeletal corrections, and (4) weekly skeletal corrections. The comparison is in terms of weighted average of the residual GTV deviations measured from the RC-CBCT scans and representing the estimated residual deviation over the treatment course. In the second study goal, GTV deviations computed from matching RCCT and RC-CBCT are compared to deviations computed from matching respiration-averaged images consisting of a CBCT reconstructed using all projections and an average-intensity-projection CT computed from the RCCT. Results: Of the eleven patients in the GTV-based systematic correction protocol, two required no correction

  10. Clinical and Genetic Characteristics of Non-Insulin-Requiring Glutamic Acid Decarboxylase (GAD Autoantibody-Positive Diabetes: A Nationwide Survey in Japan.

    Directory of Open Access Journals (Sweden)

    Junichi Yasui

    Full Text Available Glutamic acid decarboxylase autoantibodies (GADAb differentiate slowly progressive insulin-dependent (type 1 diabetes mellitus (SPIDDM from phenotypic type 2 diabetes, but many GADAb-positive patients with diabetes do not progress to insulin-requiring diabetes. To characterize GADAb-positive patients with adult-onset diabetes who do not require insulin therapy for >5 years (NIR-SPIDDM, we conducted a nationwide cross-sectional survey in Japan.We collected 82 GADAb-positive patients who did not require insulin therapy for >5 years (NIR-SPIDDM and compared them with 63 patients with insulin-requiring SPIDDM (IR-SPIDDM. Clinical and biochemical characteristics, HLA-DRB1-DQB1 haplotypes, and predictive markers for progression to insulin therapy were investigated.Compared with the IR-SPIDDM group, the NIR-SPIDDM patients showed later diabetes onset, higher body mass index, longer duration before diagnosis, and less frequent hyperglycemic symptoms at onset. In addition, C-peptide, LDL-cholesterol, and TG were significantly higher in the NIR-SPIDDM compared to IR-SPIDDM patients. The NIR-SPIDDM group had lower frequency of susceptible HLA-DRB1*04:05-DQB1*04:01 and a higher frequency of resistant HLA-DRB1*15:01-DQB1*06:02 haplotype compared to IR-SPIDDM. A multivariable analysis showed that age at diabetes onset (OR = 0.82, duration before diagnosis of GADAb-positive diabetes (OR = 0.82, higher GADAb level (≥10.0 U/ml (OR = 20.41, and fasting C-peptide at diagnosis (OR = 0.07 were independent predictive markers for progression to insulin-requiring diabetes. An ROC curve analysis showed that the optimal cut-off points for discriminating two groups was the GADAb level of 13.6 U/ml, age of diabetes onset of 47 years, duration before diagnosis of 5 years, and fasting C-peptide of 0.65 ng/ml.Clinical, biochemical and genetic characteristics of patients with NIR-SPIDDM are different from those of IR-SPIDDM patients. Age of diabetes onset, duration before

  11. Association of Genetic Polymorphism in the Interleukin-8 Gene with Risk of Oral Cancer and Its Correlation with Pain.

    Science.gov (United States)

    Singh, Prithvi Kumar; Chandra, Girish; Bogra, Jaishri; Gupta, Rajni; Kumar, Vijay; Hussain, Syed Rizwan; Jain, Amita; Mahdi, Abbas Ali; Ahmad, Mohammad Kaleem

    2016-02-01

    Oral cancer is a multifactorial disease process and involves complex interactions between gene to gene and gene to environmental factors. Interleukin 8 (IL-8), a pro-inflammatory cytokine, having angiogenic activity with elevated expression in tumor cells, is reported to play an essential role in oral cancer development. This study was conducted with the aim to investigate the role of IL-8 (-A251T) gene polymorphism in susceptibility, progressio