145 research outputs found

    Genetic variation at MECOM, TERT, JAK2 and HBS1L-MYB predisposes to myeloproliferative neoplasms

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    Clonal proliferation in myeloproliferative neoplasms (MPN) is driven by somatic mutations in JAK2, CALR or MPL, but the contribution of inherited factors is poorly characterized. Using a three-stage genome-wide association study of 3,437 MPN cases and 10,083 controls, we identify two SNPs with genome-wide significance in JAK2V617F-negative MPN: rs12339666 (JAK2; meta-analysis P=1.27 × 10−10) and rs2201862 (MECOM; meta-analysis P=1.96 × 10−9). Two additional SNPs, rs2736100 (TERT) and rs9376092 (HBS1L/MYB), achieve genome-wide significance when including JAK2V617F-positive cases. rs9376092 has a stronger effect in JAK2V617F-negative cases with CALR and/or MPL mutations (Breslow–Day P=4.5 × 10−7), whereas in JAK2V617F-positive cases rs9376092 associates with essential thrombocythemia (ET) rather than polycythemia vera (allelic χ2 P=7.3 × 10−7). Reduced MYB expression, previously linked to development of an ET-like disease in model systems, associates with rs9376092 in normal myeloid cells. These findings demonstrate that multiple germline variants predispose to MPN and link constitutional differences in MYB expression to disease phenotype

    Barrier effects on the collective excitations of split Bose-Einstein condensates

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    We investigate the collective excitations of a single-species Bose gas at T=0 in a harmonic trap where the confinement undergoes some splitting along one spatial direction. We mostly consider onedimensional potentials consisting of two harmonic wells separated a distance 2 z_0, since they essentially contain all the barrier effects that one may visualize in the 3D situation. We find, within a hydrodynamic approximation, that regardless the dimensionality of the system, pairs of levels in the excitation spectrum, corresponding to neighbouring even and odd excitations, merge together as one increases the barrier height up to the current value of the chemical potential. The excitation spectra computed in the hydrodynamical or Thomas-Fermi limit are compared with the results of exactly solving the time-dependent Gross-Pitaevskii equation. We analyze as well the characteristics of the spatial pattern of excitations of threedimensional boson systems according to the amount of splitting of the condensate.Comment: RevTeX, 12 pages, 13 ps figure

    On the Background Field Method Beyond One Loop: A manifestly covariant derivative expansion in super Yang-Mills theories

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    There are currently many string inspired conjectures about the structure of the low-energy effective action for super Yang-Mills theories which require explicit multi-loop calculations. In this paper, we develop a manifestly covariant derivative expansion of superspace heat kernels and present a scheme to evaluate multi-loop contributions to the effective action in the framework of the background field method. The crucial ingredient of the construction is a detailed analysis of the properties of the parallel displacement propagators associated with Yang-Mills supermultiples in N-extended superspace.Comment: 32 pages, latex, 7 EPS figures. v2: references, comments added, typos corrected, incorrect `skeleton' conjecture in sect. 3 replaced by a more careful treatment. v3: typos corrected, final version published in JHE

    The complex relationship between asset wealth, adaptation, and diversification in tropical fisheries

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    Marine small-scale fisheries are complex social and ecological systems that are currently pressurised by climate change, increasing demand for food, and expectation to sustain livelihoods. Species diversification and occupational diversification are often offered as adaptation strategies to increase the resilience of these fisheries to natural and economic shocks. However, little is known about the nature of species diversification within marine tropical fisheries. Based on 293 interviews with artisanal fishers from six coastal communities located at the isles of Zanzibar, Pemba, Mafia, and Mainland Tanga in Tanzania - we assess if fishers with the highest level of species diversification are the most financially secure and able to adapt to changes in the fishing industry. By creating an Asset Wealth Index (AWI) based on a Multiple Correspondence Approach (MCA), we investigate the relative levels of adaptive capacity and fishery connectivity within the different regional wealth quartiles. We find that less wealthy fishers target fewer species, making them less able to absorb changes in management measures focused on species, area, and closures. Likewise, fishers with higher wealth scores and higher adaptive capacity are able to better absorb the short-term losses of fisheries closures when compared to those with lower wealth and adaptive scores reliant on higher levels of fishery connectivity

    How can power discourses be changed? - Contrasting the ‘daughter deficit’ policy of the Delhi government with Gandhi and King’s transformational reframing

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    Social policy impact is partly determined by how policy is articulated and advocated, including which values are highlighted and how. In this paper, we examine the influence of policy framing and reframing on outcomes, with particular reference to the policies of the Delhi state government in India that target the practices of female feticide, infanticide and neglect that underlie the ‘daughter deficit’. Using Snow and Benford’s categories for understanding reframing processes, the paper outlines and applies a ‘model’ of reframing disputed issues derived from looking at two famous campaigns – Gandhi’s 1930 Salt March in the struggle for Indian freedom from British rule and the African-American civil rights struggle of the 1950s and 1960s. It argues that ‘carrot and stick’ policy measures, such as financial incentives and legal prohibitions, to counteract the ‘daughter deficit’ must be complemented by well crafted discursive interventions

    FICTION-TSA analysis of the B-cell compartment in myeloma shows no significant expansion of myeloma precursor cells

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    Faith E. Davies, Andrew C. Rawstron, Guy Pratt, Sheila O'Connor, Lela Su'ut, David Blythe, James Fenton, David Claydon, J. Anthony Child, Andrew S. Jack & Gareth J. Morga

    Deliberating performance targets workshop: Potential paths for emerging PM2.5 and O3 air sensor progress

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    The United States Environmental Protection Agency held an international two-day workshop in June 2018 to deliberate possible performance targets for non-regulatory fine particulate matter (PM2.5) and ozone (O3) air sensors. The need for a workshop arose from the lack of any market-wide manufacturer requirement for documented sensor performance evaluations, the lack of any independent third party or government-based sensor performance certification program, and uncertainty among all users as to the general usability of air sensor data. A multi-sector subject matter expert panel was assembled to facilitate an open discussion on these issues with multiple stakeholders. This summary provides an overview of the workshop purpose, key findings from the deliberations, and considerations for future actions specific to sensors. Important findings concerning PM2.5 and O3 sensors included the lack of consistent performance indicators and statistical metrics as well as highly variable data quality requirements depending on the intended use. While the workshop did not attempt to yield consensus on any topic, a key message was that a number of possible future actions would be beneficial to all stakeholders regarding sensor technologies. These included documentation of best practices, sharing quality assurance results along with sensor data, and the development of a common performance target lexicon, performance targets, and test protocols. Keywords: Low-cost air quality sensors, Performance targets, PM2.5, Ozon
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