Within-family outliers: Segregating alleles or environmental effects? A linkage analysis of height from 5815 sibling pairs

Most information in linkage analysis for quantitative traits comes from pairs of relatives that are phenotypically most discordant or concordant. Confounding this, within-family outliers from non-genetic causes may create false positives and negatives. We investigated the influence of within-family outliers empirically, using one of the largest genome-wide linkage scans for height. The subjects were drawn from Australian twin cohorts consisting of 8447 individuals in 2861 families, providing a total of 5815 possible pairs of siblings in sibships. A variance component linkage analysis was performed, either including or excluding the within-family outliers. Using the entire dataset, the largest LOD scores were on chromosome 15q (LOD 2.3) and 11q (1.5). Excluding within-family outliers increased the LOD score for most regions, but the LOD score on chromosome 15 decreased from 2.3 to 1.2, suggesting that the outliers may create false negatives and false positives, although rare alleles of large effect may also be an explanation. Several regions suggestive of linkage to height were found after removing the outliers, including 1q23.1 (2.0), 3q22.1 (1.9) and 5q32 (2.3). We conclude that the investigation of the effect of within-family outliers, which is usually neglected, should be a standard quality control measure in linkage analysis for complex traits and may reduce the noise for the search of common variants of modest effect size as well as help identify rare variants of large effect and clinical significance. We suggest that the effect of within-family outliers deserves further investigation via theoretical and simulation studies.

A Linear S-N Curve with Load Dependent Variance and Explicit Failure Probability

We reconsider standard uniaxial fatigue test data obtained from handbooks. Many S-N curve fits to such data represent the median life and exclude load-dependent variance in life. Presently available approaches for incorporating probabilistic aspects explicitly within the S-N curves have some shortcomings, which we discuss. We propose a new linear S-N fit with a prespecified failure probability, load-dependent variance, and reasonable behavior at extreme loads. We fit our parameters using maximum likelihood, show the reasonableness of the fit using Q-Q plots, and obtain standard error estimates via Monte Carlo simulations. The proposed fitting method may be used for obtaining S-N curves from the same data as already available, with the same mathematical form, but in cases in which the failure probability is smaller, say, 10 % instead of 50 %, and in which the fitted line is not parallel to the 50 % (median) line.

Variance-Reduced Particle Filters for Structural System Identification Problems

A few variance reduction schemes are proposed within the broad framework of a particle filter as applied to the problem of structural system identification. Whereas the first scheme uses a directional descent step, possibly of the Newton or quasi-Newton type, within the prediction stage of the filter, the second relies on replacing the more conventional Monte Carlo simulation involving pseudorandom sequence with one using quasi-random sequences along with a Brownian bridge discretization while representing the process noise terms. As evidenced through the derivations and subsequent numerical work on the identification of a shear frame, the combined effect of the proposed approaches in yielding variance-reduced estimates of the model parameters appears to be quite noticeable. DOI: 10.1061/(ASCE)EM.1943-7889.0000480. (C) 2013 American Society of Civil Engineers.

Habilidades sociais de pais e mães de crianças do Rio de Janeiro: estudo preliminar sobre sua relação com as práticas e estilos parentais

O estilo parental tem influência no desenvolvimento humano e pode ser definido como um padrão de comportamentos identificáveis nos pais quando se relacionam com seus filhos. A literatura tem utilizado alguns parâmetros para compreender os estilos parentais. Um deles se caracteriza pelo binômio: limites-afeto ou responsividade e exigência, delimitando três estilos parentais: Autoritário, Permissivo e Autoritativo. O estilo autoritário caracteriza-se por pais que dão muitos limites e pouco afeto. Estes pais procuram manter a ordem e o controle da família, devendo a obediência ser alcançada ainda que sob padrões punitivos. O estilo permissivo caracteriza-se por pais que dão pouco limite e muito afeto. Nesse caso, há uma crença naturalista segundo a qual a criança deve expressar livremente suas necessidades e aprender por si só. Estes pais não se vêem como responsáveis por ensinar ou modificar comportamentos infantis. O estilo autoritativo caracteriza-se por pais que dão muito limite e muito afeto. O cuidador apresenta condutas intermediárias entre as permissivas e autoritárias, estimulando verbalizações emocionais, permitindo que os filhos participem das decisões, estimulando argumentações, autonomia e disciplina. A empatia é considerada uma habilidade essencial para a manutenção dos laços sociais, que propicia a percepção da necessidade do outro e ao mesmo tempo favorece a sensação de ser compreendido. A assertividade é a habilidade de expressar e defender sua opinião com firmeza e segurança, sem, contudo desrespeitar o outro. Esta pesquisa tem como hipótese a idéia de que pais autoritativos seriam mais empáticos e assertivos do que pais autoritários. O objetivo deste estudo foi correlacionar os Estilos Parentais s Habilidades Sociais: Assertividade e Empatia. Participaram da pesquisa 64 pais, 21 homens e 43 mulheres. Os instrumentos utilizados foram: o Inventário de Habilidades Sociais (IHS-Del Prette), ao Inventario de Empatia (IE FALCONE) e ao Parental Autority Questionary (PAQ). A Análise dos dados foi feita através do SPSS. Foram efetuadas correlações r de Person entre os fatores do PAQ e os fatores do IHS e do IE. Os resultados apontaram para uma correlação positiva (r = 0,30 ; p < 0,05) entre o fator Enfrentamento e Auto-afirmação do IHS e o estilo Autoritativo. Uma relação negativa (r = -0,24 ; p < 0,05) foi observada entre este mesmo fator e o estilo Autoritário. Em relação a empatia, os fatores Tomada de Perspectiva (r = 0,33 ; p < 0,01), Sensibilidade Afetiva (r = 0,25 ; p < 0,05) e Autruismo (r = 0,25 ; p < 0,05) correlacionaram-se positivamente ao estilos Autoritativo, Em relação ao fator Autoritário, foi verificada uma correlação negativa ( r = -0,24 ; p < 0,05) com o fator Altruísmo do IE. A partir deste resultado, foram realizadas três análises de regressão linear múltipla (stepwise) considerando cada um dos fatores do PAQ como variáveis dependentes dos fatores do IHS e do IE. Os Fatores Enfrentamento e Auto-afirmação do IHS e o fator Autruísmo do IE junto explicam 15% da variância do Fator autoritativo. Os resultados apresentados são discutidos a luz da psicologia do desenvolvimento, psicologia social e neuropsicologia.

Population structure and variance effective size of red snapper (Lutjanus campechanus) in the northern Gulf of Mexico*

We assayed allelic variation at 19 nuclear-encoded microsatellites among 1622 Gulf red snapper (Lutjanus campechanus) sampled from the 1995 and 1997 cohorts at each of three offshore localities in the northern Gulf of Mexico (Gulf). Localities represented western, central, and eastern subregions within the northern Gulf. Number of alleles per microsatellite per sample ranged from four to 23, and gene diversity ranged from 0.170 to 0.917. Tests of conformity to Hardy-Weinberg equilibrium expectations and of genotypic equilibrium between pairs of micro-satellites were generally nonsignificant following Bonferroni correction. Significant genic or genotypic heterogeneity (or both) among samples was detected at four microsatellites and over all microsatellites. Levels of divergence among samples were low (FST ≤0.001). Pairwise exact tests revealed that six of seven “significant” comparisons involved temporal rather than spatial heterogeneity. Contemporaneous or variance effective size (NeV) was estimated from the temporal variance in allele frequencies by using a maximum-likelihood method. Estimates of NeV ranged between 1098 and >75,000 and differed significantly among localities; the NeV estimate for the sample from the northcentral Gulf was >60 times as large as the estimates for the other two localities. The differences in variance effective size could ref lect differences in number of individuals successfully reproducing, differences in patterns and intensity of immigration, or both, and are consistent with the hypothesis, supported by life-history data, that different “demographic stocks” of red snapper are found in the northern Gulf. Estimates of NeV for red snapper in the northern Gulf were at least three orders of magnitude lower than current estimates of census size (N). The ratio of effective to census size (Ne/N) is far below that expected in an ideal population and may reflect high variance in individual reproductive success, high temporal and spatial variance in productivity among subregions or a combination of the two.

Yellow perch strain evaluation I: Genetic variance of six broodstock populations

As a prelude to strain selection for domestication and future marker assisted selection, genetic variation revealed by microsatellite DNA was evaluated in yellow perch, Perca flavescens, from four wild North American populations collected in 2003-2004 (Maine, New York, North Carolina, and Pennsylvania,), and two captive populations (Michigan and Ohio). For the loci examined, levels of heterozygosity ranged from H-e=0.04 to 0.88, genetic differentiation was highly significant among all population pairs, and effective migration ranged from low (N(e)m=0.3) to high (N(e)m=4.5). Deviation from Hardy-Weinberg equilibrium was regularly observed indicating significant departures from random mating. Instantaneous measures of inbreeding within these populations ranged from near zero to moderate (median F=0.16) and overall inbreeding levels averaged F-IS=0.18. Estimates of genetic diversity, Phi(ST), and genetic distance were highest between Michigan and all other broodstock groups and lowest between New York and Ohio. Genetic differentiation among groups did not correlate with geographic distance. Overall, the patterns of variation exhibited by the captive (Michigan and Ohio) populations were similar to patterns exhibited by the other wild populations, indicating that spawning and management practices to date have not significantly reduced levels of genetic variation. (C) 2007 Elsevier B.V. All rights reserved.

Genetic variation within and among populations of Rhodiola alsia (Crassulaceae) native to the Tibetan Plateau as detected by ISSR markers

Genetic variation of 10 Rhodiola alsia ( Crassulaceae) populations from the Qinghai - Tibet Plateau of China was investigated using intersimple sequence repeat (ISSR) markers. R. alsia is an endemic species of the Qinghai - Tibet Plateau. Of the 100 primers screened, 13 were highly polymorphic. Using these primers, 140 discernible DNA fragments were generated with 112 (80%) being polymorphic, indicating pronounced genetic variation at the species level. Also there were high levels of polymorphism at the population level with the percentage of polymorphic bands (PPB) ranging from 63.4 to 88.6%. Analysis of molecular variance (AMOVA) showed that the genetic variation was mainly found among populations (70.3%) and variance within populations was 29.7%. The main factors responsible for the high level of differentiation among populations are probably the isolation from other populations and clonal propagation of this species. Occasional sexual reproduction might occur in order to maintain high levels of variation within populations. Environmental conditions could also influence population genetic structure as they occur in severe habitats. The strong genetic differentiation among populations in our study indicates that the conservation of genetic variability in R. alsia requires maintenance of as many populations as possible.

Narratives of Holiness Identity: The "Sanctified Person" in the Church of the Nazarene

This dissertation is an exercise in practical theology, which investigates and responds to the problem of changing holiness identity in the Church of the Nazarene. The first part of the study is an empirical investigation into the social context of contemporary Nazarene holiness identity and practices among Nazarenes in three congregations located in the Northeast United States. Previous research relied too heavily on secularization and sect-church theory to understand the dynamics of religious identity change among Nazarenes. The theological result was a pessimistic appraisal of the future possibilities of holiness identity and practice in the Church of the Nazarene. This study employs an alternative theory—Nancy T. Ammerman's theory of narrative religious identity—to understand the dynamics of lived religious life within these congregations and to identify the various holiness narratives at play. Ammerman's theory facilitates an empirical description of the multiple holiness identities emerging out of the social contexts of these Nazarene congregations and offers a way to account for identity change. At the heart of this research is the theoretical notion that a particular religious identity, in the case of the Church of the Nazarene, the "sanctified person," emerges out of a particular ecclesial context characterized by religious narratives and practices that shape this identity. Chapter one reviews the problem of holiness identity in the Church of the Nazarene and offers an analysis of recent sociological attempts to understand the changing identity among Nazarenes. Chapter two draws on sociological research to describe and depict the range of views of holiness held by some contemporary Nazarenes. Chapter three identifies the varieties of holiness identity within the three Nazarene congregations that are part of the study. Chapter four investigates the social sources that shape the various holiness identities discovered in these congregations. Chapter five is a description of the many ways religious narratives are enacted and engaged within these congregations. The second part of the study is a theological critique of contemporary Nazarene holiness identity. Chapter six draws on the theory of narrative identity proposed by Nancy Ammerman and outlines a theoretical model which describes the social conditions necessary to shape holiness identity, "the sanctified person," within the context of the local congregation. Finally, chapter seven draws on the theological resources of Mennonite scholar and historian John Howard Yoder to propose a way of construing and facilitating holiness identity formation that takes the ecclesiality of hoilness more seriously, emphasizes a clearer relationship between Jesus and the "Christlikeness" that is central to holiness, and highlights the importance of religious practices in the formation of a holiness identity.

Understanding material deprivation: A comparative European analysis

In this paper, taking advantage of the inclusion of a special module on material deprivation in EU-SILC 2009. we provide a comparative analysis of patterns of deprivation. Our analysis identifies six relatively distinct dimensions of deprivation with generally satisfactory overall levels of reliability and mean levels of reliability across countries. Multi-level analysis based on 28 European countries reveals systematic variation in the importance of within and between country variation for a range of deprivation dimensions. The basic deprivation dimension is the sole dimension to display a graduated pattern of variation across countries. It also reveals the highest correlations with national and household income, the remaining deprivation dimensions and economic stress. It comes closest to capturing an underlying dimension of generalized deprivation that can provide the basis for a comparative European analysis of exclusion from customary standards of living. A multilevel analysis revealed that a range of household characteristics and household reference person socio-economic factors were related to basic deprivation and controlling for contextual differences in such factors allowed us to account for substantial proportions of both within and between country variance. The addition of macro-economic factors relating to average levels of disposable income and income inequality contributed relatively little further in the way of explanatory power. Further analysis revealed the existence of a set of significant interactions between micro socioeconomic attributes and country level gross national disposable income per capita. The impact of socio-economic differentiation was significantly greater where average income levels were lower. Or, in other words, the impact of the latter was greater for more disadvantaged socio-economic groups. Our analysis supports the suggestion that an emphasis on the primary role of income inequality to the neglect of differences in absolute levels of income may be misleading in important respects. (C) 2012 International Sociological Association Research Committee 28 on Social Stratification and Mobility. Published by Elsevier Ltd. All rights reserved.

Illumination invariant facial recognition using a piecewise-constant lighting model

In this paper we demonstrate a simple and novel illumination model that can be used for illumination invariant facial recognition. This model requires no prior knowledge of the illumination conditions and can be used when there is only a single training image per-person. The proposed illumination model separates the effects of illumination over a small area of the face into two components; an additive component modelling the mean illumination and a multiplicative component, modelling the variance within the facial area. Illumination invariant facial recognition is performed in a piecewise manner, by splitting the face image into blocks, then normalizing the illumination within each block based on the new lighting model. The assumptions underlying this novel lighting model have been verified on the YaleB face database. We show that magnitude 2D Fourier features can be used as robust facial descriptors within the new lighting model. Using only a single training image per-person, our new method achieves high (in most cases 100%) identification accuracy on the YaleB, extended YaleB and CMU-PIE face databases.

Determinants of root-associated fungal communities within Asteraceae in a semi-arid grassland

Summary

1.While plant–fungal interactions are important determinants of plant community assembly and ecosystem functioning, the processes underlying fungal community composition are poorly understood.
2.Here, we studied for the first time the root-associated eumycotan communities in a set of co-occurring plant species of varying relatedness in a species-rich, semi-arid grassland in Germany. The study system provides an opportunity to evaluate the importance of host plants and gradients in soil type and landscape structure as drivers of fungal community structure on a relevant spatial scale. We used 454 pyrosequencing of the fungal internal transcribed spacer region to analyse root-associated eumycotan communities of 25 species within the Asteraceae, which were sampled at different locations within a soil type gradient. We partitioned the variance accounted for by three predictors (host plant phylogeny, spatial distribution and soil type) to quantify their relative roles in determining fungal community composition and used null model analyses to determine whether community composition was influenced by biotic interactions among the fungi.
3.We found a high fungal diversity (156 816 sequences clustered in 1100 operational taxonomic units (OTUs)). Most OTUs belonged to the phylum Ascomycota (35.8%); the most abundant phylotype best-matched Phialophora mustea. Basidiomycota were represented by 18.3%, with Sebacina as most abundant genus. The three predictors explained 30% of variation in the community structure of root-associated fungi, with host plant phylogeny being the most important variance component. Null model analysis suggested that many fungal taxa co-occurred less often than expected by chance, which demonstrates spatial segregation and indicates that negative interactions may prevail in the assembly of fungal communities.
4.Synthesis. The results show that the phylogenetic relationship of host plants is the most important predictor of root-associated fungal community assembly, indicating that fungal colonization of host plants might be facilitated by certain plant traits that may be shared among closely related plant species.

How should teaching on whole person medicine, including spiritual issues, be delivered in the undergraduate medical curriculum in the United Kingdom?

Background

Although the General Medical Council recommends that United Kingdom medical students are taught ‘whole person medicine’, spiritual care is variably recognised within the curriculum. Data on teaching delivery and attainment of learning outcomes is lacking. This study ascertained views of Faculty and students about spiritual care and how to teach and assess competence in delivering such care.

A questionnaire comprising 28 questions exploring attitudes to whole person medicine, spirituality and illness, and training of healthcare staff in providing spiritual care was designed using a five-point Likert scale. Free text comments were studied by thematic analysis. The questionnaire was distributed to 1300 students and 106 Faculty at Queen’s University Belfast Medical School.

351 responses (54 staff, 287 students; 25 %) were obtained. >90 % agreed that whole person medicine included physical, psychological and social components; 60 % supported inclusion of a spiritual component within the definition. Most supported availability of spiritual interventions for patients, including access to chaplains (71 %), counsellors (62 %), or members of the patient’s faith community (59 %). 90 % felt that personal faith/spirituality was important to some patients and 60 % agreed that this influenced health. However 80 % felt that doctors should never/rarely share their own spiritual beliefs with patients and 67 % felt they should only do so when specifically invited. Most supported including training on provision of spiritual care within the curriculum; 40-50 % felt this should be optional and 40 % mandatory. Small group teaching was the favoured delivery method. 64 % felt that teaching should not be assessed, but among assessment methods, reflective portfolios were most favoured (30 %). Students tended to hold more polarised viewpoints but generally were more favourably disposed towards spiritual care than Faculty. Respecting patients’ values and beliefs and the need for guidance in provision of spiritual care were identified in the free-text comments.

Students and Faculty generally recognise a spiritual dimension to health and support provision of spiritual care to appropriate patients. There is lack of consensus whether this should be delivered by doctors or left to others. Spiritual issues impacting patient management should be included in the curriculum; agreement is lacking about how to deliver and assess.

Building a person home behavior model based on data from smart house sensors 2015

Dissertação para a obtenção do grau de Mestre em Engenharia Electrotécnica Ramo de Energia

Testing the effects of genetic crossing distance on embryo survival within a metapopulation of brown trout (Salmo trutta)

Predicting progeny performance from parental genetic divergence can potentially enhance the efficiency of supportive breeding programmes and facilitate risk assessment. Yet, experimental testing of the effects of breeding distance on offspring performance remains rare, especially in wild populations of vertebrates. Recent studies have demonstrated that embryos of salmonid fish are sensitive indicators of additive genetic variance for viability traits. We therefore used gametes of wild brown trout (Salmo trutta) from five genetically distinct populations of a river catchment in Switzerland, and used a full factorial design to produce over 2,000 embryos in 100 different crosses with varying genetic distances (FST range 0.005-0.035). Customized egg capsules allowed recording the survival of individual embryos until hatching under natural field conditions. Our breeding design enabled us to evaluate the role of the environment, of genetic and nongenetic parental contributions, and of interactions between these factors, on embryo viability. We found that embryo survival was strongly affected by maternal environmental (i.e. non-genetic) effects and by the microenvironment, i.e. by the location within the gravel. However, embryo survival was not predicted by population divergence, parental allelic dissimilarity, or heterozygosity, neither in the field nor under laboratory conditions. Our findings suggest that the genetic effects of inter-population hybridization within a genetically differentiated meta-population can be minor in comparison to environmental effects.

Collective learning within nursing clinical groups /

This qualitative study examined collective learning within nursing clinical groups. Specifically, it explored the influence of the individual on the group and the impact of the group on the individual. The study was organized using the concepts from Debbie Kilgore's theory of collective learning (1999). The sample consisted of 1 8 second-year university nursing students and 3 clinical instructors. Data were collected via individual interviews with each participant and researcher's observations during a group conference. The interviews were tape-recorded, transcribed, and analyzed using key concepts from Kilgore's framework. Several interesting findings emerged. Overall, it appeared that individual components and group components contributed to the quality and quantity of collective learning that occurred in the groups. Individually, each person's past group experiences, personality, culture, and gender influenced how that individual acted in the group, their roles, and how much influence they had over group decisions. Moreover, the situation which seemed to cause the greatest sense of helplessness and loss of control was when one of their group members was breaking a norm. They were unable to deal with such situations constructively. Also, the amount of sense of worthiness (respect) and sense of agency (control) the member felt within the group had an impact on the person's role in group decisions. Finally, it seemed that students felt more connected with their peers within the clinical setting when they were close with them on a personal and social level. With respect to the group elements, it seemed that the instructors' values and way of being were instrumental in shaping the group's identity. In group 2, there were clear examples of group consciousness and the students' need to go along with the majority viewpoint, even when it was contrary to their own beliefs. Finally, the common goal of passing clinical and dealing with the fears of being in the clinical setting brought solidarity among the group members, and there seemed to be a high level of positive interdependence among them. From the discussion and analysis of the findings, recommendations were given on how to improve the learning within clinical groups.