1,329 research outputs found

    Congenital contractural arachnodactyly (Beals syndrome)

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    Congenital contractural arachnodactyly (Beals syndrome) is an autosomal dominantly inherited connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia. It is caused by a mutation in FBN2 gene on chromosome 5q23. Although the clinical features can be similar to Marfan syndrome (MFS), multiple joint contractures (especially elbow, knee and finger joints), and crumpled ears in the absence of significant aortic root dilatation are characteristic of Beals syndrome and rarely found in Marfan syndrome. The incidence of CCA is unknown and its prevalence is difficult to estimate considering the overlap in phenotype with MFS; the number of patients reported has increased following the identification of FBN2 mutation. Molecular prenatal diagnosis is possible. Ultrasound imaging may be used to demonstrate joint contractures and hypokinesia in suspected cases. Management of children with CCA is symptomatic. Spontaneous improvement in camptodactyly and contractures is observed but residual camptodactyly always remains. Early intervention for scoliosis can prevent morbidity later in life. Cardiac evaluation and ophthalmologic evaluations are recommended

    Building social capital through breastfeeding peer support: Insights from an evaluation of a voluntary breastfeeding peer support service in North-West England

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    Background: Peer support is reported to be a key method to help build social capital in communities. To date there are no studies that describe how this can be achieved through a breastfeeding peer support service. In this paper we present findings from an evaluation of a voluntary model of breastfeeding peer support in North-West England to describe how the service was operationalized and embedded into the community. This study was undertaken from May, 2012 to May, 2013. Methods: Interviews (group or individual) were held with 87 participants: 24 breastfeeding women, 13 peer supporters and 50 health and community professionals. The data contained within 23 monthly monitoring reports (January, 2011 to February 2013) compiled by the voluntary peer support service were also extracted and analysed. Results: Thematic analysis was undertaken using social capital concepts as a theoretical lens. Key findings were identified to resonate with ’bonding’, ‘bridging’ and ‘linking’ forms of social capital. These insights illuminate how the peer support service facilitates ‘bonds’ with its members, and within and between women who access the service; how the service ‘bridges’ with individuals from different interests and backgrounds, and how ‘links’ were forged with those in authority to gain access and reach to women and to promote a breastfeeding culture. Some of the tensions highlighted within the social capital literature were also identified. Conclusions: Horizontal and vertical relationships forged between the peer support service and community members enabled peer support to be embedded into care pathways, helped to promote positive attitudes to breastfeeding and to disseminate knowledge and maximise reach for breastfeeding support across the community. Further effort to engage with those of different ethnic backgrounds and to resolve tensions between peer supporters and health professionals is warranted

    What happens if you single out? An experiment

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    We present an experiment investigating the effects of singling out an individual on trust and trustworthiness. We find that (a) trustworthiness falls if there is a singled out subject; (b) non-singled out subjects discriminate against the singled out subject when they are not responsible of the distinct status of this person; (c) under a negative frame, the singled out subject returns significantly less; (d) under a positive frame, the singled out subject behaves bimodally, either selecting very low or very high return rates. Overall, singling out induces a negligible effect on trust but is potentially disruptive for trustworthiness

    Engineering polymer informatics: Towards the computer-aided design of polymers

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    The computer-aided design of polymers is one of the holy grails of modern chemical informatics and of significant interest for a number of communities in polymer science. The paper outlines a vision for the in silico design of polymers and presents an information model for polymers based on modern semantic web technologies, thus laying the foundations for achieving the vision

    Doctors' learning habits: CME activities among Norwegian physicians over the last decade

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    <p>Abstract</p> <p>Background</p> <p>Coping with the increasing body of medical knowledge is a main challenge to all doctors. The aim of this study was to investigate self reported reading and learning habits among Norwegian doctors and their subjective ability to keep professionally updated.</p> <p>Methods</p> <p>A cross sectional survey among a randomised sample of Norwegian doctors was undertaken in 2004 (n = 1005, response rate 71%). A similar study with many identical questions was done in 1993 (n = 1041, response rate 71%) and a comparison of the results was made.</p> <p>Results</p> <p>Attending courses/congresses and reading medical literature were reported to be the most important sources of professional information in 2004, just like in 1993. Less time was spent on courses/congresses in 2004 than in 1993, and more time was spent on medical reading. The internet was regarded as useful for their professional life for three out of five, mostly among the younger and least among GPs.</p> <p>Two out of three doctors felt that they could obtain sufficient information for keeping updated in 2004, the same proportion as in 1993. A correlation was found between subjective coping with the information and a high level of continuing medical education (CME)-activities. The information copers had a higher level of job satisfaction than non-copers.</p> <p>Conclusion</p> <p>Over the last decade Norwegian doctors spend less time on attending courses/congresses and more time on medical reading, while the level of self perceived coping with information has been unchanged. The changing pattern of professional updating may reflect a more general individualistic trend in society. The consistent finding of a correlation between reading and attending courses, subjective coping and job satisfaction gives good reasons for recommending a high level of CME-activities among doctors.</p

    Drosophila Neurotrophins Reveal a Common Mechanism for Nervous System Formation

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    Neurotrophic interactions occur in Drosophila, but to date, no neurotrophic factor had been found. Neurotrophins are the main vertebrate secreted signalling molecules that link nervous system structure and function: they regulate neuronal survival, targeting, synaptic plasticity, memory and cognition. We have identified a neurotrophic factor in flies, Drosophila Neurotrophin (DNT1), structurally related to all known neurotrophins and highly conserved in insects.By investigating with genetics the consequences of removing DNT1 or adding it in excess, we show that DNT1 maintains neuronal survival, as more neurons die in DNT1 mutants and expression of DNT1 rescues naturally occurring cell death, and it enables targeting by motor neurons. We show that Spa¨ tzle and a further fly neurotrophin superfamily member, DNT2, also have neurotrophic functions in flies. Our findings imply that most likely a neurotrophin was present in the common ancestor of all bilateral organisms, giving rise to invertebrate and vertebrate neurotrophins through gene or whole-genome duplications. This work provides a missing link between aspects of neuronal function in flies and vertebrates, and it opens the opportunity to use Drosophila to investigate further aspects of neurotrophin function and to model related diseases

    Cooperation, Norms, and Revolutions: A Unified Game-Theoretical Approach

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    Cooperation is of utmost importance to society as a whole, but is often challenged by individual self-interests. While game theory has studied this problem extensively, there is little work on interactions within and across groups with different preferences or beliefs. Yet, people from different social or cultural backgrounds often meet and interact. This can yield conflict, since behavior that is considered cooperative by one population might be perceived as non-cooperative from the viewpoint of another. To understand the dynamics and outcome of the competitive interactions within and between groups, we study game-dynamical replicator equations for multiple populations with incompatible interests and different power (be this due to different population sizes, material resources, social capital, or other factors). These equations allow us to address various important questions: For example, can cooperation in the prisoner's dilemma be promoted, when two interacting groups have different preferences? Under what conditions can costly punishment, or other mechanisms, foster the evolution of norms? When does cooperation fail, leading to antagonistic behavior, conflict, or even revolutions? And what incentives are needed to reach peaceful agreements between groups with conflicting interests? Our detailed quantitative analysis reveals a large variety of interesting results, which are relevant for society, law and economics, and have implications for the evolution of language and culture as well

    Having a lot of a good thing: multiple important group memberships as a source of self-esteem.

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    Copyright: © 2015 Jetten et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are creditedMembership in important social groups can promote a positive identity. We propose and test an identity resource model in which personal self-esteem is boosted by membership in additional important social groups. Belonging to multiple important group memberships predicts personal self-esteem in children (Study 1a), older adults (Study 1b), and former residents of a homeless shelter (Study 1c). Study 2 shows that the effects of multiple important group memberships on personal self-esteem are not reducible to number of interpersonal ties. Studies 3a and 3b provide longitudinal evidence that multiple important group memberships predict personal self-esteem over time. Studies 4 and 5 show that collective self-esteem mediates this effect, suggesting that membership in multiple important groups boosts personal self-esteem because people take pride in, and derive meaning from, important group memberships. Discussion focuses on when and why important group memberships act as a social resource that fuels personal self-esteem.This study was supported by 1. Australian Research Council Future Fellowship (FT110100238) awarded to Jolanda Jetten (see http://www.arc.gov.au) 2. Australian Research Council Linkage Grant (LP110200437) to Jolanda Jetten and Genevieve Dingle (see http://www.arc.gov.au) 3. support from the Canadian Institute for Advanced Research Social Interactions, Identity and Well-Being Program to Nyla Branscombe, S. Alexander Haslam, and Catherine Haslam (see http://www.cifar.ca)

    Rural–Urban Migration and Experience of Childhood Abuse in the Young Thai Population

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    Evidence suggests that certain migrant populations are at increased risk of abusive behaviors. It is unclear whether this may also apply to Thai rural–urban migrants, who may experience higher levels of psychosocial adversities than the population at large. The study aims to examine the association between migration status and the history of childhood sexual, physical, and emotional abuse among young Thai people in an urban community. A population-based cross-sectional survey was conducted in Northern Bangkok on a representative sample of 1052 young residents, aged 16–25 years. Data were obtained concerning: 1) exposures—migration (defined as an occasion when a young person, born in a more rural area moves for the first time into Greater Bangkok) and age at migration. 2) outcomes—child abuse experiences were assessed with an anonymous self report adapted from the Conflict Tactics Scales (CTS). There were 8.4%. 16.6% and 56.0% reporting sexual, physical, and emotional abuse, respectively. Forty six percent of adolescents had migrated from rural areas to Bangkok, mostly independently at the age of 15 or after to seek work. Although there were trends towards higher prevalences of the three categories of abuse among early migrants, who moved to Bangkok before the age of 15, being early migrants was independently associated with experiences of physical abuse (OR 1.9 95%CI 1.1–3.2) and emotional abuse (OR 2.0, 95%CI 1.3–3.0) only. Our results suggest that rural–urban migration at an early age may place children at higher risk of physical and emotional abuse. This may have policy implications for the prevention of childhood abuse particularly among young people on the move

    Institutional trust and alcohol consumption in Sweden: The Swedish National Public Health Survey 2006

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    <p>Abstract</p> <p>Background</p> <p>Trust as a measure of social capital has been documented to be associated with health. Mediating factors for this association are not well investigated. Harmful alcohol consumption is believed to be one of the mediating factors. We hypothesized that low social capital defined as low institutional trust is associated with harmful alcohol consumption.</p> <p>Methods</p> <p>Data from the 2006 Swedish National Survey of Public Health were used for analyses. The total study population comprised a randomly selected representative sample of 26.305 men and 30.584 women aged 16–84 years. Harmful alcohol consumption was measured using a short version the Alcohol Use Disorders Identification Test (AUDIT), developed and recommended by the World Health Organisation. Low institutional trust was defined based on trust in ten main welfare institutions in Sweden.</p> <p>Results</p> <p>Independent of age, country of birth and socioeconomic circumstances, low institutional trust was associated with increased likelihood of harmful alcohol consumption (OR (men) = 1.52, 95% CI 1.34–1.70) and (OR (women) = 1.50, 95% CI 1.35–1.66). This association was marginally altered after adjustment for interpersonal trust.</p> <p>Conclusion</p> <p>Findings of the present study show that lack of trust in institutions is associated with increased likelihood of harmful alcohol consumption. We hope that findings in the present study will inspire similar studies in other contexts and contribute to more knowledge on the association between institutional trust and lifestyle patterns. This evidence may contribute to policies and strategies related to alcohol consumption.</p
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