193 research outputs found

    Evaluability assessments as an approach to supporting healthy weight

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    Evaluability assessment (EA) is a low-cost pre-evaluation activity that can make the best use of limited evaluation resources by improving both the quality and usefulness of evaluations, and the quality and effectiveness of the programmes being evaluated. We conducted seven EAs as part of an evaluation of Medway Council's Supporting Healthy Weight services. This article describes the processes we went through, outlines some of the lessons learned, and shares the benefits of such an approach. We created logic models using programme information and interviews with the Supporting Healthy Weight team. We examined differences between the intended programme and the actual programme, and identified key issues and changes made during implementation. This allowed us to speculate about whether the programme was likely to reach the target audience and achieve the desired impact. From this we identified key information needs and priority evaluation questions. The EAs allowed Medway's public health team to prioritise which programmes needed to be fully evaluated as well as how, why and when. This enabled more cost-effective targeting of limited evaluation resources. The EAs culminated in recommendations for programme improvement, data improvement and capacity strengthening that will have an impact across the whole suite of healthy weight services

    Validation and implementation of array comparative genomic hybridisation as a first line test in place of postnatal karyotyping for genome imbalance

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    <p>Abstract</p> <p>Background</p> <p>Several studies have demonstrated that array comparative genomic hybridisation (CGH) for genome-wide imbalance provides a substantial increase in diagnostic yield for patients traditionally referred for karyotyping by G-banded chromosome analysis. The purpose of this study was to demonstrate the feasibility of and strategies for, the use of array CGH in place of karyotyping for genome imbalance, and to report on the results of the implementation of this approach.</p> <p>Results</p> <p>Following a validation period, an oligoarray platform was chosen. In order to minimise costs and increase efficiency, a patient/patient hybridisation strategy was used, and analysis criteria were set to optimise detection of pathogenic imbalance. A customised database application with direct links to a number of online resources was developed to allow efficient management and tracking of patient samples and facilitate interpretation of results. Following introduction into our routine diagnostic service for patients with suspected genome imbalance, array CGH as a follow-on test for patients with normal karyotypes (n = 1245) and as a first-line test (n = 1169) gave imbalance detection rates of 26% and 22% respectively (excluding common, benign variants). At least 89% of the abnormalities detected by first line testing would not have been detected by standard karyotype analysis. The average reporting time for first-line tests was 25 days from receipt of sample.</p> <p>Conclusions</p> <p>Array CGH can be used in a diagnostic service setting in place of G-banded chromosome analysis, providing a more comprehensive and objective test for patients with suspected genome imbalance. The increase in consumable costs can be minimised by employing appropriate hybridisation strategies; the use of robotics and a customised database application to process multiple samples reduces staffing costs and streamlines analysis, interpretation and reporting of results. Array CGH provides a substantially higher diagnostic yield than G-banded chromosome analysis, thereby alleviating the burden of further clinical investigations.</p

    Understanding student pathways in context-rich problems

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    This paper describes the ways that students’ problem-solving behaviors evolve when solving multi-faceted, context-rich problems within a web-based learning environment. During the semester, groups of two or three students worked on five physics problems that required drawing on more than one concept and, hence, could not be readily solved with simple “plug-and-chug” strategies. The problems were presented to students in a data-rich, online problem-based learning environment that tracked which information items were selected by students as they attempted to solve the problem. The students also completed a variety of tasks, like entering an initial qualitative analysis of the problem into an online form. Students were not constrained to complete these tasks in any specific order. As they gained more experience in solving context-rich physics problems, student groups showed some progression towards expert-like behavior as they completed qualitative analysis earlier and were more selective in their perusal of informational resources. However, there was room for more improvement as approximately half of the groups still completed the qualitative analysis task towards the end of the problem-solving process rather than at the beginning of the task when it would have been most useful to their work

    Motivations and barriers to prosthesis users participation in physical activity, exercise and sport : a review of the literature

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    The UK will host the Paralympics in 2012 and the Commonwealth Games in 2014 showcasing the talents of elite athletes and aiming to inspire the population to become involved. However, low levels of physical activity (PA) are prevalent: only 40% of men and 28% of women meet the minimum UK recommendations. The limb absent population is no exception. To determine if people with limb amputations are participating in physical activity and sport; whether post-amputation activity levels match pre-amputation levels; and if there are motivations and barriers to participation. Study design: Literature review Five reviewers systematically search of peer reviewed and gray literature in seven bibliographic databases and the Cochrane Library. Results: Following rigorous elimination, 12 articles were finally included in the review and critically appraised. Four themes were identified: components, rehabilitation outcomes, body image and motivations and barriers to participation. People with limb absence are not participating in PA conducive to health benefits, and only a minority participate in exercise and sports. Participation following amputation does not mirror that of pre-amputation levels, and more barriers than motivations exist to adopting and maintaining a physically active lifestyle. This literature review aims to inform those involved in rehabilitation and ongoing care of those with limb absence about what motivates or precludes their participation in physical activity, exercise and sport. Such knowledge could be applied to improving health and well being in this population

    Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders.

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    Copy number variants (CNVs) at chromosome 16p13.11 have been associated with a range of neurodevelopmental disorders including autism, ADHD, intellectual disability and schizophrenia. Significant sex differences in prevalence, course and severity have been described for a number of these conditions but the biological and environmental factors underlying such sex-specific features remain unclear. We tested the burden and the possible sex-biased effect of CNVs at 16p13.11 in a sample of 10,397 individuals with a range of neurodevelopmental conditions, clinically referred for array comparative genomic hybridisation (aCGH); cases were compared with 11,277 controls. In order to identify candidate phenotype-associated genes, we performed an interval-based analysis and investigated the presence of ohnologs at 16p13.11; finally, we searched the DECIPHER database for previously identified 16p13.11 copy number variants. In the clinical referral series, we identified 46 cases with CNVs of variable size at 16p13.11, including 28 duplications and 18 deletions. Patients were referred for various phenotypes, including developmental delay, autism, speech delay, learning difficulties, behavioural problems, epilepsy, microcephaly and physical dysmorphisms. CNVs at 16p13.11 were also present in 17 controls. Association analysis revealed an excess of CNVs in cases compared with controls (OR = 2.59; p = 0.0005), and a sex-biased effect, with a significant enrichment of CNVs only in the male subgroup of cases (OR = 5.62; p = 0.0002), but not in females (OR = 1.19, p = 0.673). The same pattern of results was also observed in the DECIPHER sample. Interval-based analysis showed a significant enrichment of case CNVs containing interval II (OR = 2.59; p = 0.0005), located in the 0.83 Mb genomic region between 15.49-16.32 Mb, and encompassing the four ohnologs NDE1, MYH11, ABCC1 and ABCC6. Our data confirm that duplications and deletions at 16p13.11 represent incompletely penetrant pathogenic mutations that predispose to a range of neurodevelopmental disorders, and suggest a sex-limited effect on the penetrance of the pathological phenotypes at the 16p13.11 locus.South London and Maudsley Trust NIHR specialist Biomedical Research Centre Guys and St Thomas Trust NIHR comprehensive Biomedical Research Centre European Commission Seventh Framework project PsychCNVs info:eu-repo/grantAgreement/EC/FP7/223423 Wellcome Trust (Wellcome Trust Case control consortium; WTCCC2
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