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    Genetic testing of children for adult-onset conditions: opinions of the British adult population and implications for clinical practice

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    This study set out to explore the attitudes of a representative sample of the British public towards genetic testing in children to predict disease in the future. We sought opinions about genetic testing for adult-onset conditions for which no prevention/treatment is available during childhood, and about genetic 'carrier' status to assess future reproductive risks. The study also examined participants' level of agreement with the reasons professional organisations give in favour of deferring such testing. Participants (n=2998) completed a specially designed questionnaire, distributed by email. Nearly half of the sample (47%) agreed that parents should be able to test their child for adult-onset conditions, even if there is no treatment or prevention at time of testing. This runs contrary to professional guidance about genetic testing in children. Testing for carrier status was supported by a larger proportion (60%). A child's future ability to decide for her/himself if and when to be tested was the least supported argument in favour of deferring testing.European Journal of Human Genetics advance online publication, 5 November 2014; doi:10.1038/ejhg.2014.221

    Dioxin Toxicity In Vivo Results from an Increase in the Dioxin-Independent Transcriptional Activity of the Aryl Hydrocarbon Receptor

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    The Aryl hydrocarbon receptor (Ahr) is the nuclear receptor mediating the toxicity of dioxins -widespread and persistent pollutants whose toxic effects include tumor promotion, teratogenesis, wasting syndrome and chloracne. Elimination of Ahr in mice eliminates dioxin toxicity but also produces adverse effects, some seemingly unrelated to dioxin. Thus the relationship between the toxic and dioxin-independent functions of Ahr is not clear, which hampers understanding and treatment of dioxin toxicity. Here we develop a Drosophila model to show that dioxin actually increases the in vivo dioxin-independent activity of Ahr. This hyperactivation resembles the effects caused by an increase in the amount of its dimerisation partner Ahr nuclear translocator (Arnt) and entails an increased transcriptional potency of Ahr, in addition to the previously described effect on nuclear translocation. Thus the two apparently different functions of Ahr, dioxin-mediated and dioxin-independent, are in fact two different levels (hyperactivated and basal, respectively) of a single function

    Use of primary care and other healthcare services between age 85 and 90 years: longitudinal analysis of a single-year birth cohort, the Newcastle 85+ study

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    Objective: To describe, using data from the Newcastle 85+ cohort study, the use of primary care and other healthcare services by 85-year-olds as they age. Design: Longitudinal population-based cohort study. Setting: Newcastle on Tyne and North Tyneside, UK. Participants: Community dwelling and institutionalised men and women recruited through general practices (n=845, 319 men and 526 women). Results: Contact was established with 97% (n=1409/1459) of eligible 85-year-olds, consent obtained from 74% (n=1042/1409) and 851 agreed to undergo the multidimensional health assessment and a general practice medical records review. A total of 845 participants had complete data at baseline for this study (319 male, 526 female), with 344 (118 male, 226 female) reinterviewed at 60 months. After adjusting for confounders, all consultations significantly increased over the 5 years (incidence rate ratio, IRR=1.03, 95% CI 1.01 to 1.05, P=0.001) as did general practitioner (GP) consultations (IRR=1.03, 95% CI 1.01 to 1.05, P=0.006). Significant increases were also observed in inpatient and day hospital use over time, though these disappeared after adjustment for confounders. Conclusions: Our study of primary, secondary and community care use by the very old reveals that, between the ages of 85 and 90 years, older people are much more likely to consult their GP than any other primary healthcare team members. With a rapidly ageing society, it is essential that both current and future GPs are appropriately skilled, and adequately supported by specialist colleagues, as the main healthcare provider for a population with complex and challenging needs

    Recommendations for a core outcome set for measuring standing balance in adult populations: a consensus-based approach

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    Standing balance is imperative for mobility and avoiding falls. Use of an excessive number of standing balance measures has limited the synthesis of balance intervention data and hampered consistent clinical practice.To develop recommendations for a core outcome set (COS) of standing balance measures for research and practice among adults.A combination of scoping reviews, literature appraisal, anonymous voting and face-to-face meetings with fourteen invited experts from a range of disciplines with international recognition in balance measurement and falls prevention. Consensus was sought over three rounds using pre-established criteria.The scoping review identified 56 existing standing balance measures validated in adult populations with evidence of use in the past five years, and these were considered for inclusion in the COS.Fifteen measures were excluded after the first round of scoring and a further 36 after round two. Five measures were considered in round three. Two measures reached consensus for recommendation, and the expert panel recommended that at a minimum, either the Berg Balance Scale or Mini Balance Evaluation Systems Test be used when measuring standing balance in adult populations.Inclusion of two measures in the COS may increase the feasibility of potential uptake, but poses challenges for data synthesis. Adoption of the standing balance COS does not constitute a comprehensive balance assessment for any population, and users should include additional validated measures as appropriate.The absence of a gold standard for measuring standing balance has contributed to the proliferation of outcome measures. These recommendations represent an important first step towards greater standardization in the assessment and measurement of this critical skill and will inform clinical research and practice internationally

    Implementation of routine outcome measurement in child and adolescent mental health services in the United Kingdom: a critical perspective

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    The aim of this commentary is to provide an overview of clinical outcome measures that are currently recommended for use in UK Child and Adolescent Mental Health Services (CAMHS), focusing on measures that are applicable across a wide range of conditions with established validity and reliability, or innovative in their design. We also provide an overview of the barriers and drivers to the use of Routine Outcome Measurement (ROM) in clinical practice
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