157 research outputs found

    Increased BDNF levels and NTRK2 gene association suggest a disruption of BDNF/TrkB signaling in autism

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    The brain-derived neurotrophic factor (BDNF), a neurotrophin fundamental for brain development and function, has previously been implicated in autism. In this study, the levels of BDNF in platelet-rich plasma were compared between autistic and control children, and the role of two genetic factors that might regulate this neurotrophin and contribute to autism etiology, BDNF and NTRK2, was examined. We found that BDNF levels in autistic children (n = 146) were significantly higher (t = 6.82; P < 0.0001) than in control children (n = 50) and were positively correlated with platelet serotonin distribution (r = 0.22; P = 0.004). Heritability of BDNF was estimated at 30% and therefore candidate genes BDNF and NTRK2 were tested for association with BDNF level distribution in this sample, and with autism in 469 trio families. Genetic association analysis provided no evidence for BDNF or NTRK2 as major determinants of the abnormally increased BDNF levels in autistic children. A significant association with autism was uncovered for six single nucleotide polymorphisms (SNPs) [0.004 (Z((1df)) = 2.85) < P < 0.039 (Z((1df)) = 2.06)] and multiple haplotypes [5 × 10(-4) (χ((3df)) = 17.77) < P < 0.042 (χ((9df)) = 17.450)] in the NTRK2 gene. These results do not withstand correction for multiple comparisons, however, reflect a trend toward association that supports a role of NTRK2 as a susceptibility factor for the disorder. Genetic variation in the BDNF gene had no impact on autism risk. By substantiating the previously observed increase in BDNF levels in autistic children in a larger patient set, and suggesting a genetic association between NTRK2 and autism, this study integrates evidence from multiple levels supporting the hypothesis that alterations in BDNF/tyrosine kinase B (TrkB) signaling contribute to an increased vulnerability to autism

    Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders

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    Validating the potential pathogenicity of copy number variants (CNVs) identified in genome-wide studies of autism spectrum disorders (ASD) requires detailed assessment of case/control frequencies, inheritance patterns, clinical correlations, and functional impact. Here, we characterize a small recurrent duplication in the annexin A1 (ANXA1) gene, identified by the Autism Genome Project (AGP) study

    Search for direct production of charginos and neutralinos in events with three leptons and missing transverse momentum in √s = 7 TeV pp collisions with the ATLAS detector

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    A search for the direct production of charginos and neutralinos in final states with three electrons or muons and missing transverse momentum is presented. The analysis is based on 4.7 fb−1 of proton–proton collision data delivered by the Large Hadron Collider and recorded with the ATLAS detector. Observations are consistent with Standard Model expectations in three signal regions that are either depleted or enriched in Z-boson decays. Upper limits at 95% confidence level are set in R-parity conserving phenomenological minimal supersymmetric models and in simplified models, significantly extending previous results

    Jet size dependence of single jet suppression in lead-lead collisions at sqrt(s(NN)) = 2.76 TeV with the ATLAS detector at the LHC

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    Measurements of inclusive jet suppression in heavy ion collisions at the LHC provide direct sensitivity to the physics of jet quenching. In a sample of lead-lead collisions at sqrt(s) = 2.76 TeV corresponding to an integrated luminosity of approximately 7 inverse microbarns, ATLAS has measured jets with a calorimeter over the pseudorapidity interval |eta| < 2.1 and over the transverse momentum range 38 < pT < 210 GeV. Jets were reconstructed using the anti-kt algorithm with values for the distance parameter that determines the nominal jet radius of R = 0.2, 0.3, 0.4 and 0.5. The centrality dependence of the jet yield is characterized by the jet "central-to-peripheral ratio," Rcp. Jet production is found to be suppressed by approximately a factor of two in the 10% most central collisions relative to peripheral collisions. Rcp varies smoothly with centrality as characterized by the number of participating nucleons. The observed suppression is only weakly dependent on jet radius and transverse momentum. These results provide the first direct measurement of inclusive jet suppression in heavy ion collisions and complement previous measurements of dijet transverse energy imbalance at the LHC.Comment: 15 pages plus author list (30 pages total), 8 figures, 2 tables, submitted to Physics Letters B. All figures including auxiliary figures are available at http://atlas.web.cern.ch/Atlas/GROUPS/PHYSICS/PAPERS/HION-2011-02

    The Concept of Governance in the Spirit of Capitalism

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    Through combining insights from political economy and sociology, this article explains the early genesis of the policy notion of governance in relation to ideological changes in capitalism. Such an approach has tended to be neglected in existing conceptual histories, in the process, undermining a sharper politicization of the term and how it became normalized. The argument dissects how the emergence of governance can be understood in light of a relationship between political crises, social critique and justificatory arguments (centered around security and justice claims) that form part of an ideological ‘spirit of capitalism’. Through a distinctive comparison between the creation of ‘corporate governance’ in the 1970s and the formulation of a ‘governance agenda’ by the World Bank from the 1980s, the article elucidates how the concept, within certain policy uses, but by no means all, can reflect and help constitute a neoliberal spirit of capitalism

    From Feminist Anarchy to Decolonization: Understanding abortion health activism before and after the Repeal of the 8th Amendment

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    This article analyses abortion health activism (AHA) in the Irish context. AHA is a form of activism focused on enabling abortion access where it is restricted. Historically, AHA has involved facilitating the movement of abortion seekers along ‘abortion trails’ (Rossiter, 2009). Organisations operate transnationally, enabling access to abortion care across borders. Such AHA is a form of feminist anarchism, resisting prohibitions on abortion through direct action. However, AHA work has changed over time. Existing scholarship relates this to advancements in medical technology, particularly the emergence of telemedicine and the increased use of early medical abortion. This article goes beyond those explanations to explore how else AHA has changed by comparing the work of AHA before and after the Republic of Ireland’s referendum on abortion in May 2018. Based on this, I argue that there is a visible shift in the politics of AHA. Drawing on qualitative data from research on AHA organisations along the Liverpool–Ireland Abortion Corridor, specifically those based outside Ireland, the article argues that in the aftermath of the referendum, Irish AHA has increasingly moved towards decolonising feminist activism, thus drawing attention to the relationship between abortion health activists (AHAs) and broader political discourses entangled with abortion law reform
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