89 research outputs found

    Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation.

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    Thyroid dysfunction is an important public health problem, which affects 10% of the general population and increases the risk of cardiovascular morbidity and mortality. Many aspects of thyroid hormone regulation have only partly been elucidated, including its transport, metabolism, and genetic determinants. Here we report a large meta-analysis of genome-wide association studies for thyroid function and dysfunction, testing 8 million genetic variants in up to 72,167 individuals. One-hundred-and-nine independent genetic variants are associated with these traits. A genetic risk score, calculated to assess their combined effects on clinical end points, shows significant associations with increased risk of both overt (Graves' disease) and subclinical thyroid disease, as well as clinical complications. By functional follow-up on selected signals, we identify a novel thyroid hormone transporter (SLC17A4) and a metabolizing enzyme (AADAT). Together, these results provide new knowledge about thyroid hormone physiology and disease, opening new possibilities for therapeutic targets

    Cold atoms in space: community workshop summary and proposed road-map

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    We summarise the discussions at a virtual Community Workshop on Cold Atoms in Space concerning the status of cold atom technologies, the prospective scientific and societal opportunities offered by their deployment in space, and the developments needed before cold atoms could be operated in space. The cold atom technologies discussed include atomic clocks, quantum gravimeters and accelerometers, and atom interferometers. Prospective applications include metrology, geodesy and measurement of terrestrial mass change due to, e.g., climate change, and fundamental science experiments such as tests of the equivalence principle, searches for dark matter, measurements of gravitational waves and tests of quantum mechanics. We review the current status of cold atom technologies and outline the requirements for their space qualification, including the development paths and the corresponding technical milestones, and identifying possible pathfinder missions to pave the way for missions to exploit the full potential of cold atoms in space. Finally, we present a first draft of a possible road-map for achieving these goals, that we propose for discussion by the interested cold atom, Earth Observation, fundamental physics and other prospective scientific user communities, together with the European Space Agency (ESA) and national space and research funding agencies.publishedVersio

    Risk profiles and one-year outcomes of patients with newly diagnosed atrial fibrillation in India: Insights from the GARFIELD-AF Registry.

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    BACKGROUND: The Global Anticoagulant Registry in the FIELD-Atrial Fibrillation (GARFIELD-AF) is an ongoing prospective noninterventional registry, which is providing important information on the baseline characteristics, treatment patterns, and 1-year outcomes in patients with newly diagnosed non-valvular atrial fibrillation (NVAF). This report describes data from Indian patients recruited in this registry. METHODS AND RESULTS: A total of 52,014 patients with newly diagnosed AF were enrolled globally; of these, 1388 patients were recruited from 26 sites within India (2012-2016). In India, the mean age was 65.8 years at diagnosis of NVAF. Hypertension was the most prevalent risk factor for AF, present in 68.5% of patients from India and in 76.3% of patients globally (P < 0.001). Diabetes and coronary artery disease (CAD) were prevalent in 36.2% and 28.1% of patients as compared with global prevalence of 22.2% and 21.6%, respectively (P < 0.001 for both). Antiplatelet therapy was the most common antithrombotic treatment in India. With increasing stroke risk, however, patients were more likely to receive oral anticoagulant therapy [mainly vitamin K antagonist (VKA)], but average international normalized ratio (INR) was lower among Indian patients [median INR value 1.6 (interquartile range {IQR}: 1.3-2.3) versus 2.3 (IQR 1.8-2.8) (P < 0.001)]. Compared with other countries, patients from India had markedly higher rates of all-cause mortality [7.68 per 100 person-years (95% confidence interval 6.32-9.35) vs 4.34 (4.16-4.53), P < 0.0001], while rates of stroke/systemic embolism and major bleeding were lower after 1 year of follow-up. CONCLUSION: Compared to previously published registries from India, the GARFIELD-AF registry describes clinical profiles and outcomes in Indian patients with AF of a different etiology. The registry data show that compared to the rest of the world, Indian AF patients are younger in age and have more diabetes and CAD. Patients with a higher stroke risk are more likely to receive anticoagulation therapy with VKA but are underdosed compared with the global average in the GARFIELD-AF. CLINICAL TRIAL REGISTRATION-URL: http://www.clinicaltrials.gov. Unique identifier: NCT01090362

    Pathogenic and molecular characterization of Pythium species inducing root rot symptoms of common bean in Rwanda

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    Pythium root rot constitutes a highly damaging constraint on the common bean, Phaseolus vulgaris L., grown in several areas of Eastern and Central Africa. Here, this food legume is cultivated intensively under poor conditions of crop rotation due to the exiguity of the land in the region. Yield losses of up to 70% in traditional local bean cultivars have been reported in Kenya and Rwanda. In this study, a detailed analysis of the biology and diversity of the Pythium genus was carried out in order to understand the mechanisms leading to the development of the disease. Various control methods for reducing the damage provoked by this disease were analyzed

    The use of Depletion Methods to assess Mediterranean cephalopod stocks under the current EU Data Collection Framework

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    Fuelled by the increasing importance of cephalopod fisheries in Europe, scientists and stakeholders have demanded their assessment and management. However, little has been done to improve the data collection under the EU Data Collection Framework (DCF) in order to analyse cephalopod populations. While the DCF allows member states to design flexible national sampling programmes, it establishes the minimum data requirements (MDR) each state is obliged to fulfil. This study was performed to investigate whether such MDR currently set by the DCF allow the application of depletion models (DMs) to assess European cephalopod stocks. Squid and cuttlefish fisheries from the western Mediterranean were used as a case study. This study sheds doubt on the suitability of the MDR to properly assess and manage cephalopod stocks by means of DMs. Owing to the high plasticity of life-history traits in cephalopod populations, biological parameters should be estimated during the actual depletion period of the fished stocks, rather than performing triennial sampling as established by the DCF. In order to accurately track the depletion event, the rapid growth rates of cephalopods implies that their populations should be monitored at shorter time scales (ideally weekly or biweekly) instead of quarterly as specified by the DCF. These measures would not require additional resources of the ongoing DCF but a redistribution of sampling efforts during the depletion period. Such changes in the sampling scheme could be designed and undertaken by the member states or directly integrated as requirements.VersiĂłn del editor0,568

    PHOSPHORUS MAGNETIC-RESONANCE SPECTROSCOPY - A NONINVASIVE TECHNIQUE FOR THE STUDY OF OCCLUSIVE ARTERIAL LEG DISEASE AND PERIPHERAL VASODILATOR THERAPY

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    International audienceAbstract: Using P-31 nuclear magnetic resonance spectroscopy of the calf muscle, the authors studied patients with peripheral arterial occlusive disease. They studied PCr depletion and intracellular pH during aerobic exercise in patients and controls. The phosphocreatine (PCr) index {[PCr] / ([PCr] + [Pi])} at rest was correlated with blood flow measured by plethysmography. During aerobic exercise a greater decrease in pH was obtained in patients (p < 0.03). They also studied the work necessary to reach a PCr index = 0.5 during ischemic exercise. This workload was lower in patients than in controls: 32.99 +/- 3.04 J vs 58.89 +/- 8.55 J, p < 0.05. After vasodilator therapy the workload was improved in patients: 32.99 +/- 3.04 J vs 38.85 +/- 3.54 J, p < 0.05. These results suggest that therapy resulted in improved tissue perfusion in patients
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