1,106 research outputs found

    Fisika Modern 2

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    Fisika Modern 2

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    ECIS 2014 E-HEALTH PANEL: CRITICAL CONSIDERATIONS IN THE DESIGN, DEVELOPMENT AND IMPLEMENTATION OF E-HEALTH SOLUTIONS

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    Healthcare delivery, irrespective of the region in the world, is facing the key challenges of escalating costs, an aging population, an increase in a myriad of diagnostic technologies and the rise of chronic diseases which in turn is leading to a more and more preventative focus. In short, the current state of healthcare delivery is not sustainable (OECD, 2012a;2012b; Porter and Guth, 2012; Porter and Teisberg,2006; Pearce and Haikerwal, 2010; Wickramasinghe and Schaffer, 2010). Most countries are responding with various types of healthcare reform and turning to e-health solutions. But e-health is not a panacea for the maladies faced by healthcare delivery. Moreover, it is important to understand the key macro and micro issues as well as vital people, process and technology aspects if superior and sustainable healthcare delivery is to ensue

    Melanocortin-4 receptor gene: case-control study and transmission disequilibrium test confirm that functionally relevant mutations are compatible with a major gene effect for extreme obesity

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    We initially performed a mutation screen of the coding region of the MC4R in 808 extremely obese children and adolescents and 327 underweight or normal-weight controls allowing for a case-control study. A total of 16 different missense, nonsense, and frameshift mutations were found in the obese study group; five of these have not been observed previously. In vitro assays revealed that nine [the haplotype (Y35X; D37V) was counted as one mutation] of the 16 mutations led to impaired cAMP responses, compared with wild-type receptor constructs. In contrast, only one novel missense mutation was detected in the controls, which did not alter receptor function. The association test based on functionally relevant mutations was positive (P = 0.006, Fisher's exact test, one-sided). We proceeded by screening a total of 1040 parents of 520 of the aforementioned obese young index patients to perform transmission disequilibrium tests. The 11 parental carriers of functionally relevant mutations transmitted the mutation in 81.8% (P = 0.033; exact one-sided McNemar test). These results support the hypothesis that these MC4R mutations represent major gene effects for obesity

    The EDGE-CALIFA Survey: Interferometric Observations of 126 Galaxies with CARMA

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    We present interferometric CO observations, made with the Combined Array for Millimeter-wave Astronomy (CARMA) interferometer, of galaxies from the Extragalactic Database for Galaxy Evolution survey (EDGE). These galaxies are selected from the Calar Alto Legacy Integral Field Area (CALIFA) sample, mapped with optical integral field spectroscopy. EDGE provides good-quality CO data (3σ sensitivity before inclination correction, resolution ∼1.4 kpc) for 126 galaxies, constituting the largest interferometric CO survey of galaxies in the nearby universe. We describe the survey and data characteristics and products, then present initial science results. We find that the exponential scale lengths of the molecular, stellar, and star-forming disks are approximately equal, and galaxies that are more compact in molecular gas than in stars tend to show signs of interaction. We characterize the molecular-to-stellar ratio as a function of Hubble type and stellar mass and present preliminary results on the resolved relations between the molecular gas, stars, and star-formation rate. We then discuss the dependence of the resolved molecular depletion time on stellar surface density, nebular extinction, and gas metallicity. EDGE provides a key data set to address outstanding topics regarding gas and its role in star formation and galaxy evolution, which will be publicly available on completion of the quality assessment.Fil: Bolatto, Alberto. University of Maryland; Estados UnidosFil: Wong, Tony. University of Illinois at Urbana; Estados UnidosFil: Utomo, Dyas. University of California at Berkeley; Estados UnidosFil: Blitz, Leo. University of California at Berkeley; Estados UnidosFil: Vogel, Stuart N.. University of Maryland; Estados UnidosFil: Sánchez, Sebastián F.. Universidad Nacional Autónoma de México; MéxicoFil: Barrera-Ballesteros, Jorge. University Johns Hopkins; Estados UnidosFil: Cao, Yixian. University of Illinois; Estados UnidosFil: Colombo, Dario. Max Planck Institut Fur Radioastronomie; AlemaniaFil: Dannerbauer, Helmut. Universidad de La Laguna; EspañaFil: García-Benito, Rubén. Instituto de Astrofísica de Andalucía; EspañaFil: Herrera-Camus, Rodrigo. Max Planck Institute für Extraterrestrische Physik; AlemaniaFil: Husemann, Bernd. Max-Planck-Institut für Astronomie; AlemaniaFil: Kalinova, Veselina. Max Planck Institut für Radioastronomie; AlemaniaFil: Leroy, Adam K.. Ohio State University; Estados UnidosFil: Leung, Gigi. Max-Planck-Institut für Astronomie; AlemaniaFil: Levy, Rebecca C.. University of Maryland; Estados UnidosFil: Mast, Damian. Observatorio Astronomico de la Universidad Nacional de Cordoba; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba; ArgentinaFil: Ostriker, Eve. University of Princeton; Estados UnidosFil: Rosolowsky, Erik. University of Alberta; CanadáFil: Sandstrom, Karin M.. University of California at San Diego; Estados UnidosFil: Teuben, Peter. University of Maryland; Estados UnidosFil: Van De Ven, Glenn. Max-Planck-Institut für Astronomie; AlemaniaFil: Walter, Fabian. Max-Planck-Institut für Astronomie; Alemani

    Non-replication of an association of CTNNBL1 polymorphisms and obesity in a population of Central European ancestry

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    <p>Abstract</p> <p>Background</p> <p>A recent genome-wide association (GWA) study of U.S. Caucasians suggested that eight single nucleotide polymorphisms (SNPs) in <it>CTNNBL1 </it>are associated with obesity and increased fat mass. We analysed the respective SNPs in data from our previously published GWA for early onset obesity (case-control design), in GWA data from a population-based cohort of adults, and in an independent family-based obesity study. We investigated whether variants in <it>CTNNBL1 </it>(including rs6013029) and in three other genes (<it>SH3PXD2B</it>, <it>SLIT3 </it>and <it>FLJ42133</it>,) were associated with obesity.</p> <p>Methods</p> <p>The GWA studies were carried out using Affymetrix<sup>® </sup>SNP Chips with approximately 500,000 markers each. In the families, SNP rs6013029 was genotyped using the TaqMan<sup>® </sup>allelic discrimination assay. The German case-control GWA included 487 extremely obese children and adolescents and 442 healthy lean individuals. The adult GWA included 1,644 individuals from a German population-based study (KORA). The 775 independent German families consisted of extremely obese children and adolescents and their parents.</p> <p>Results</p> <p>We found no evidence for an association of the reported variants in <it>CTNNBL1 </it>with early onset obesity or increased BMI. Further, in our family-based study we found no evidence for over-transmission of the rs6013029 risk-allele T to obese children. Additionally, we found no evidence for an association of <it>SH3PXD2B</it>, <it>SLIT3 and FLJ42133 </it>variants in our two GWA samples.</p> <p>Conclusion</p> <p>We detected no confirmation of the recent association of variants in <it>CTNNBL1 </it>with obesity in a population of Central European ancestry.</p
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