161 research outputs found

    Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.

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    Autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum (TCC) is a common and clinically distinct form of familial spastic paraplegia that is linked to the SPG11 locus on chromosome 15 in most affected families. We analyzed 12 ARHSP-TCC families, refined the SPG11 candidate interval and identified ten mutations in a previously unidentified gene expressed ubiquitously in the nervous system but most prominently in the cerebellum, cerebral cortex, hippocampus and pineal gland. The mutations were either nonsense or insertions and deletions leading to a frameshift, suggesting a loss-of-function mechanism. The identification of the function of the gene will provide insight into the mechanisms leading to the degeneration of the corticospinal tract and other brain structures in this frequent form of ARHSP

    Pylons in the back yard: local planning and perceived risks to health

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    Health fears arising from the presence of high-voltage power lines in residential areas have received recent attention in spatial planning. A study of stances taken by planning authorities in England and Wales shows their willingness to give expression to the concerns of local communities through precautionary measures, and the difficulties encountered in the face of official statements and industry opposition. These attempts to embody local feeling in patterns of development are illustrative of the increasing prevalence of a sense of risk in contemporary society. The spatial patterns of risk are also revealed, which owe much to the presence and distribution of industrial infrastructure in the landscape and to the associated contested use of land.</p

    ScotGrid: Providing an Effective Distributed Tier-2 in the LHC Era

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    ScotGrid is a distributed Tier-2 centre in the UK with sites in Durham, Edinburgh and Glasgow. ScotGrid has undergone a huge expansion in hardware in anticipation of the LHC and now provides more than 4MSI2K and 500TB to the LHC VOs. Scaling up to this level of provision has brought many challenges to the Tier-2 and we show in this paper how we have adopted new methods of organising the centres, from fabric management and monitoring to remote management of sites to management and operational procedures, to meet these challenges. We describe how we have coped with different operational models at the sites, where Glagsow and Durham sites are managed "in house" but resources at Edinburgh are managed as a central university resource. This required the adoption of a different fabric management model at Edinburgh and a special engagement with the cluster managers. Challenges arose from the different job models of local and grid submission that required special attention to resolve. We show how ScotGrid has successfully provided an infrastructure for ATLAS and LHCb Monte Carlo production. Special attention has been paid to ensuring that user analysis functions efficiently, which has required optimisation of local storage and networking to cope with the demands of user analysis. Finally, although these Tier-2 resources are pledged to the whole VO, we have established close links with our local physics user communities as being the best way to ensure that the Tier-2 functions effectively as a part of the LHC grid computing framework..Comment: Preprint for 17th International Conference on Computing in High Energy and Nuclear Physics, 7 pages, 1 figur

    CMS distributed computing workflow experience

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    The vast majority of the CMS Computing capacity, which is organized in a tiered hierarchy, is located away from CERN. The 7 Tier-1 sites archive the LHC proton-proton collision data that is initially processed at CERN. These sites provide access to all recorded and simulated data for the Tier-2 sites, via wide-area network (WAN) transfers. All central data processing workflows are executed at the Tier-1 level, which contain re-reconstruction and skimming workflows of collision data as well as reprocessing of simulated data to adapt to changing detector conditions. This paper describes the operation of the CMS processing infrastructure at the Tier-1 level. The Tier-1 workflows are described in detail. The operational optimization of resource usage is described. In particular, the variation of different workflows during the data taking period of 2010, their efficiencies and latencies as well as their impact on the delivery of physics results is discussed and lessons are drawn from this experience. The simulation of proton-proton collisions for the CMS experiment is primarily carried out at the second tier of the CMS computing infrastructure. Half of the Tier-2 sites of CMS are reserved for central Monte Carlo (MC) production while the other half is available for user analysis. This paper summarizes the large throughput of the MC production operation during the data taking period of 2010 and discusses the latencies and efficiencies of the various types of MC production workflows. We present the operational procedures to optimize the usage of available resources and we the operational model of CMS for including opportunistic resources, such as the larger Tier-3 sites, into the central production operation

    ā€œI h 8 uā€: Findings from a five-year study of text and e-mail bullying

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    Copyright @ 2010 British Educational Research Association. The final version of this article is available at the link below.This study charts reports of nasty or threatening text and e-mail messages received by students in academic years 7 and 8 (11-13 years of age) attending 13 secondary schools in the North of England between 2002-2006. Annual surveys were undertaken on behalf of the local education authority (LEA) to monitor bullying. Results indicated that, over five years, the number of pupils receiving one or more nasty or threatening text messages or e-mails increased significantly, particularly among girls. However, receipt of frequent nasty or threatening text and e-mail messages remained relatively stable. For boys, being a victim of direct-physical bullying was associated with receiving nasty or threatening text and e-mail messages; for girls it was being unpopular among peers. Boys received more hate-related messages and girls were primarily the victims of name-calling, Findings are discussed with respect to theoretical and policy developments, and recommendations for future research are offered

    The International Collaboration for Research methods Development in Oncology (CReDO) workshops: shaping the future of global oncology research

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    Low-income and middle-income countries (LMICs) have a disproportionately high burden of cancer and cancer mortality. The unique barriers to optimum cancer care in these regions necessitate context-specific research. The conduct of research in LMICs has several challenges, not least of which is a paucity of formal training in research methods. Building capacity by training early career researchers is essential to improve research output and cancer outcomes in LMICs. The International Collaboration for Research methods Development in Oncology (CReDO) workshop is an initiative by the Tata Memorial Centre and the National Cancer Grid of India to address gaps in research training and increase capacity in oncology research. Since 2015, there have been five CReDO workshops, which have trained more than 250 oncologists from India and other countries in clinical research methods and protocol development. Participants from all oncology and allied fields were represented at these workshops. Protocols developed included clinical trials, comparative effectiveness studies, health services research, and observational studies, and many of these protocols were particularly relevant to cancer management in LMICs. A follow-up of these participants in 2020 elicited an 88% response rate and showed that 42% of participants had made progress with their CReDO protocols, and 73% had initiated other research protocols and published papers. In this Policy Review, we describe the challenges to research in LMICs, as well as the evolution, structure, and impact of CReDO and other similar workshops on global oncology research
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