59 research outputs found

    A new polygenic score for refractive error improves detection of children at risk of high myopia but not the prediction of those at risk of myopic macular degeneration

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    BACKGROUND: High myopia (HM), defined as a spherical equivalent refractive error (SER) ≤ -6.00 diopters (D), is a leading cause of sight impairment, through myopic macular degeneration (MMD). We aimed to derive an improved polygenic score (PGS) for predicting children at risk of HM and to test if a PGS is predictive of MMD after accounting for SER. METHODS: The PGS was derived from genome-wide association studies in participants of UK Biobank, CREAM Consortium, and Genetic Epidemiology Research on Adult Health and Aging. MMD severity was quantified by a deep learning algorithm. Prediction of HM was quantified as the area under the receiver operating curve (AUROC). Prediction of severe MMD was assessed by logistic regression. FINDINGS: In independent samples of European, African, South Asian and East Asian ancestry, the PGS explained 19% (95% confidence interval 17-21%), 2% (1-3%), 8% (7-10%) and 6% (3-9%) of the variation in SER, respectively. The AUROC for HM in these samples was 0.78 (0.75-0.81), 0.58 (0.53-0.64), 0.71 (0.69-0.74) and 0.67 (0.62-0.72), respectively. The PGS was not associated with the risk of MMD after accounting for SER: OR = 1.07 (0.92-1.24). INTERPRETATION: Performance of the PGS approached the level required for clinical utility in Europeans but not in other ancestries. A PGS for refractive error was not predictive of MMD risk once SER was accounted for. FUNDING: Supported by the Welsh Government and Fight for Sight (24WG201)

    A Systematic Review of the Frequency of Neurocyticercosis with a Focus on People with Epilepsy

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    Neurocysticercosis (NCC) is a parasitic infection of the brain caused by the tapeworm Taenia solium, which infects humans and pigs. There have been increasing case reports and epidemiological studies on this disease, but its global frequency has never been determined, partly due to the fact that blood tests are not very good for the diagnosis of NCC. We present here a systematic review of the literature on the frequency of NCC diagnosed with neuroimaging worldwide. Overall, 565 articles were retrieved and 290 (51%) selected for further review. Of those, only 26 had information valid enough to estimate the frequency of NCC in various populations. Only one study estimated the prevalence of NCC in the general population. The most striking finding was that the proportion of NCC among persons with epilepsy was very consistent and estimated at 29.6% (95%CI: 23.5%–36.1%) from 12 studies conducted in Latin America, Sub-Saharan Africa and Southeast Asia. A reinforcement of the suggested universal guidelines for the diagnostic process, declaring NCC an international reportable disease and standardizing procedures for data collection could improve our understanding of the frequency of NCC worldwide and hence its global burden

    A new polygenic score for refractive error improves detection of children at risk of high myopia but not the prediction of those at risk of myopic macular degeneration.

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    BackgroundHigh myopia (HM), defined as a spherical equivalent refractive error (SER) ≤ -6.00 diopters (D), is a leading cause of sight impairment, through myopic macular degeneration (MMD). We aimed to derive an improved polygenic score (PGS) for predicting children at risk of HM and to test if a PGS is predictive of MMD after accounting for SER.MethodsThe PGS was derived from genome-wide association studies in participants of UK Biobank, CREAM Consortium, and Genetic Epidemiology Research on Adult Health and Aging. MMD severity was quantified by a deep learning algorithm. Prediction of HM was quantified as the area under the receiver operating curve (AUROC). Prediction of severe MMD was assessed by logistic regression.FindingsIn independent samples of European, African, South Asian and East Asian ancestry, the PGS explained 19% (95% confidence interval 17-21%), 2% (1-3%), 8% (7-10%) and 6% (3-9%) of the variation in SER, respectively. The AUROC for HM in these samples was 0.78 (0.75-0.81), 0.58 (0.53-0.64), 0.71 (0.69-0.74) and 0.67 (0.62-0.72), respectively. The PGS was not associated with the risk of MMD after accounting for SER: OR = 1.07 (0.92-1.24).InterpretationPerformance of the PGS approached the level required for clinical utility in Europeans but not in other ancestries. A PGS for refractive error was not predictive of MMD risk once SER was accounted for.FundingSupported by the Welsh Government and Fight for Sight (24WG201)

    Gamma-ray and radio properties of six pulsars detected by the fermi large area telescope

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    We report the detection of pulsed γ-rays for PSRs J0631+1036, J0659+1414, J0742-2822, J1420-6048, J1509-5850, and J1718-3825 using the Large Area Telescope on board the Fermi Gamma-ray Space Telescope (formerly known as GLAST). Although these six pulsars are diverse in terms of their spin parameters, they share an important feature: their γ-ray light curves are (at least given the current count statistics) single peaked. For two pulsars, there are hints for a double-peaked structure in the light curves. The shapes of the observed light curves of this group of pulsars are discussed in the light of models for which the emission originates from high up in the magnetosphere. The observed phases of the γ-ray light curves are, in general, consistent with those predicted by high-altitude models, although we speculate that the γ-ray emission of PSR J0659+1414, possibly featuring the softest spectrum of all Fermi pulsars coupled with a very low efficiency, arises from relatively low down in the magnetosphere. High-quality radio polarization data are available showing that all but one have a high degree of linear polarization. This allows us to place some constraints on the viewing geometry and aids the comparison of the γ-ray light curves with high-energy beam models

    Search for dark matter produced in association with bottom or top quarks in √s = 13 TeV pp collisions with the ATLAS detector

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    A search for weakly interacting massive particle dark matter produced in association with bottom or top quarks is presented. Final states containing third-generation quarks and miss- ing transverse momentum are considered. The analysis uses 36.1 fb−1 of proton–proton collision data recorded by the ATLAS experiment at √s = 13 TeV in 2015 and 2016. No significant excess of events above the estimated backgrounds is observed. The results are in- terpreted in the framework of simplified models of spin-0 dark-matter mediators. For colour- neutral spin-0 mediators produced in association with top quarks and decaying into a pair of dark-matter particles, mediator masses below 50 GeV are excluded assuming a dark-matter candidate mass of 1 GeV and unitary couplings. For scalar and pseudoscalar mediators produced in association with bottom quarks, the search sets limits on the production cross- section of 300 times the predicted rate for mediators with masses between 10 and 50 GeV and assuming a dark-matter mass of 1 GeV and unitary coupling. Constraints on colour- charged scalar simplified models are also presented. Assuming a dark-matter particle mass of 35 GeV, mediator particles with mass below 1.1 TeV are excluded for couplings yielding a dark-matter relic density consistent with measurements

    A new polygenic score for refractive error improves detection of children at risk of high myopia but not the prediction of those at risk of myopic macular degeneration

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    Background High myopia (HM), defined as a spherical equivalent refractive error (SER) ≤ −6.00 diopters (D), is a leading cause of sight impairment, through myopic macular degeneration (MMD). We aimed to derive an improved polygenic score (PGS) for predicting children at risk of HM and to test if a PGS is predictive of MMD after accounting for SER. Methods The PGS was derived from genome-wide association studies in participants of UK Biobank, CREAM Consortium, and Genetic Epidemiology Research on Adult Health and Aging. MMD severity was quantified by a deep learning algorithm. Prediction of HM was quantified as the area under the receiver operating curve (AUROC). Prediction of severe MMD was assessed by logistic regression. Findings In independent samples of European, African, South Asian and East Asian ancestry, the PGS explained 19% (95% confidence interval 17–21%), 2% (1–3%), 8% (7–10%) and 6% (3–9%) of the variation in SER, respectively. The AUROC for HM in these samples was 0.78 (0.75–0.81), 0.58 (0.53–0.64), 0.71 (0.69–0.74) and 0.67 (0.62–0.72), respectively. The PGS was not associated with the risk of MMD after accounting for SER: OR = 1.07 (0.92–1.24). Interpretation Performance of the PGS approached the level required for clinical utility in Europeans but not in other ancestries. A PGS for refractive error was not predictive of MMD risk once SER was accounted fo

    « Les frontières du travail ou : la vie professionnelle de frontaliers de la « Grande Région »

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    La « Grande Région », qui comprend la Lorraine, la Sarre, la Rhénanie-Palatinat, le Luxembourg et la Wallonie, représente plus du quart des 780000 salariés frontaliers de l'Union européenne. À partir d'entretiens menés avec des frontaliers et des experts, cet article explore le vécu de salariés frontaliers de Lorraine travaillant en Sarre. Si la raison première de la présence de frontaliers en Allemagne reste économique, les salariés interrogés n'en sont pas moins plutôt satisfaits de leur sort, malgré des difficultés dues aux différences de réglementation, pour lesquelles il existe un important dispositif d'aide et de défense de leurs intérêts. Représentés au sein des structures de codétermination (Mitbestimmung), les frontaliers s'estiment également bien intégrés dans l'entreprise. Les perspectives du travail frontalier en Allemagne sont très bonnes du point de vue du marché de l'emploi, mais cependant incertaines en raison du recul de la maîtrise de l'allemand et de ses dialectes en Lorraine, ainsi que de l'attrait exercé par le Luxembourg, les flux frontaliers restant très déséquilibrés dans une Grande Région au développement économique inégal

    « Le traducteur et le bonnet bleu-zénith. Quelques réflexions sur les éditions françaises des albums de Janosch »: Traduction/adaptation des littératures et textes spécialisés

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    Les contributions sont regroupées autour de thèmes qui découpent le sujet général de l'adaptation des traductions

    Europe et droit de la consommation

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    International audienceLe droit européen de la consommation s'est développé dans le sillage de la mise en place du marché unique. En n'imposant qu'une harmonisation minimale par le biais des directives, le législateur a laissé persister des différences importantes entre les régimes nationaux. Les différences de culture juridique peuvent donc s'y exprimer d'autant plus pleinement que les dispositions antérieures ne sont pas systématiquement remaniées. Les exemples de l'Allemagne, du Royaume-Uni montrent la puissance de l'héritage du passé dans les dispositifs de protection du consommateu

    Prospection épigraphique et archéologique dans la région du Nahr al-Awali (Saïda/Sidon)

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    Cette recherche a pour buf d'identifier l'emplacement d'une inscription de Bodashtart, roi de Sidon, mentionnée par l'Ermir Maurice Chéhab mais jamais publiée. Cette inscription parle d'aménagements faits sur la rivière Awali pour amener l'eau au temple d'Eshmoun. Afin de mener à bien cette recherche, la documentation photographique de la DGA ainsi que les sources écrites et orales furent exploitées. Par ailleurs, une prospection sur le terrain permit de confronter les informations ainsi recueillies avec l'état actuel de la région. Ces divers axes de recherche conduisirent à l'identification quasi-certaine du lieu où se trouvait l'inscription. Cette dernière ne fut pas retrouvée; elle fut probablement détruite par la centrale électrique construite à proximité ou par les aménagements modernes sur la rive droite du fleuve.Peer reviewe
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