142 research outputs found

    Optimized loading of an optical dipole trap for the production of Chromium BECs

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    We report on a strategy to maximize the number of chromium atoms transferred from a magneto-optical trap into an optical trap through accumulation in metastable states via strong optical pumping. We analyse how the number of atoms in a chromium Bose Einstein condensate can be raised by a proper handling of the metastable state populations. Four laser diodes have been implemented to address the four levels that are populated during the MOT phase. The individual importance of each state is specified. To stabilize two of our laser diode, we have developed a simple ultrastable passive reference cavity whose long term stability is better than 1 MHz

    Conducting clinical genomics research during the COVID-19 pandemic: Lessons learned from the CSER consortium experience

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    Clinical research studies have navigated many changes throughout the COVID-19 pandemic. We sought to describe the pandemic′s impact on research operations in the context of a clinical genomics research consortium that aimed to enroll a majority of participants from underrepresented populations. We interviewed (July to November 2020) and surveyed (May to August 2021) representatives of six projects in the Clinical Sequencing Evidence-Generating Research (CSER) consortium, which studies the implementation of genome sequencing in the clinical care of patients from populations that are underrepresented in genomics research or are medically underserved. Questions focused on COVID′s impact on participant recruitment, enrollment, and engagement, and the transition to teleresearch. Responses were combined and thematically analyzed. Projects described factors at the project, institutional, and community levels that affected their experiences. Project factors included the project′s progress at the pandemic′s onset, the urgency of in-person clinical care for the disease being studied, and the degree to which teleresearch procedures were already incorporated. Institutional and community factors included institutional guidance for research and clinical care and the burden of COVID on the local community. Overall, being responsive to community experiences and values was essential to how CSER navigated evolving challenges during the COVID-19 pandemic

    Population-based genetic effects for developmental stuttering

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    Despite a lifetime prevalence of at least 5%, developmental stuttering, characterized by prolongations, blocks, and repetitions of speech sounds, remains a largely idiopathic speech disorder. Family, twin, and segregation studies overwhelmingly support a strong genetic influence on stuttering risk; however, its complex mode of inheritance combined with thus-far underpowered genetic studies contribute to the challenge of identifying and reproducing genes implicated in developmental stuttering susceptibility. We conducted a trans-ancestry genome-wide association study (GWAS) and meta-analysis of developmental stuttering in two primary datasets: The International Stuttering Project comprising 1,345 clinically ascertained cases from multiple global sites and 6,759 matched population controls from the biobank at Vanderbilt University Medical Center (VUMC), and 785 self-reported stuttering cases and 7,572 controls ascertained from The National Longitudinal Study of Adolescent to Adult Health (Add Health). Meta-analysis of these genome-wide association studies identified a genome-wide significant (GWS) signal for clinically reported developmental stuttering in the general population: a protective variant in the intronic or genic upstream region of SSUH2 (rs113284510, protective allele frequency = 7.49%, Z = −5.576, p = 2.46 × 10−8) that acts as an expression quantitative trait locus (eQTL) in esophagus-muscularis tissue by reducing its gene expression. In addition, we identified 15 loci reaching suggestive significance (p < 5 × 10−6). This foundational population-based genetic study of a common speech disorder reports the findings of a clinically ascertained study of developmental stuttering and highlights the need for further research

    What Drives Fitness Apps Usage? An Empirical Evaluation

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    Part 3: Creating Value through ApplicationsInternational audienceThe increased health problems associated with lack of physical activity is of great concern around the world. Mobile phone based fitness applications appear to be a cost effective promising solution for this problem. The aim of this study is to develop a research model that can broaden understanding of the factors that influence the user acceptance of mobile fitness apps. Drawing from Unified Theory of Acceptance and Use of Technology (UTAUT) and Elaboration Likelihood Model (ELM), we conceptualize the antecedents and moderating factors of fitness app use. We validate our model using field survey. Implications for research and practice are discussed

    Common variants near MC4R are associated with fat mass, weight and risk of obesity.

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    To identify common variants influencing body mass index (BMI), we analyzed genome-wide association data from 16,876 individuals of European descent. After previously reported variants in FTO, the strongest association signal (rs17782313, P = 2.9 x 10(-6)) mapped 188 kb downstream of MC4R (melanocortin-4 receptor), mutations of which are the leading cause of monogenic severe childhood-onset obesity. We confirmed the BMI association in 60,352 adults (per-allele effect = 0.05 Z-score units; P = 2.8 x 10(-15)) and 5,988 children aged 7-11 (0.13 Z-score units; P = 1.5 x 10(-8)). In case-control analyses (n = 10,583), the odds for severe childhood obesity reached 1.30 (P = 8.0 x 10(-11)). Furthermore, we observed overtransmission of the risk allele to obese offspring in 660 families (P (pedigree disequilibrium test average; PDT-avg) = 2.4 x 10(-4)). The SNP location and patterns of phenotypic associations are consistent with effects mediated through altered MC4R function. Our findings establish that common variants near MC4R influence fat mass, weight and obesity risk at the population level and reinforce the need for large-scale data integration to identify variants influencing continuous biomedical traits

    CUORE Experiment: The Search for Neutrrinoless Double Beta Decay

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    The main purpose of the Cryogenic Underground Observatory for Rare Events (CUORE) experiment is the search for the Neutrinoless Double Beta Decay (0νDBD) of n130Te reaching a sensitivity on Majorana mass better than 50 meV. Cuoricino represents not only the first stage of CUORE, but also the most massive 0νDBD experiment presently running. Present results and future planning of these experiments will be described in the paper

    Genomewide meta-analysis identifies loci associated with IGF-I and IGFBP-3 levels with impact on age-related traits

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    The growth hormone/insulin-like growth factor (IGF) axis can be manipulated in animal models to promote longevity, and IGF-related proteins including IGF-I and IGF-binding protein-3 (IGFBP-3) have also been implicated in risk of human diseases including cardiovascular diseases, diabetes, and cancer. Throug
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