76 research outputs found

    Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.

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    The QT interval, an electrocardiographic measure reflecting myocardial repolarization, is a heritable trait. QT prolongation is a risk factor for ventricular arrhythmias and sudden cardiac death (SCD) and could indicate the presence of the potentially lethal mendelian long-QT syndrome (LQTS). Using a genome-wide association and replication study in up to 100,000 individuals, we identified 35 common variant loci associated with QT interval that collectively explain ∼8-10% of QT-interval variation and highlight the importance of calcium regulation in myocardial repolarization. Rare variant analysis of 6 new QT interval-associated loci in 298 unrelated probands with LQTS identified coding variants not found in controls but of uncertain causality and therefore requiring validation. Several newly identified loci encode proteins that physically interact with other recognized repolarization proteins. Our integration of common variant association, expression and orthogonal protein-protein interaction screens provides new insights into cardiac electrophysiology and identifies new candidate genes for ventricular arrhythmias, LQTS and SCD

    Two-Neutron Halo is Unveiled in ^{29}F

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    We report the measurement of reaction cross sections (σ_{R}^{ex}) of ^{27,29}F with a carbon target at RIKEN. The unexpectedly large σ_{R}^{ex} and derived matter radius identify ^{29}F as the heaviest two-neutron Borromean halo to date. The halo is attributed to neutrons occupying the 2p_{3/2} orbital, thereby vanishing the shell closure associated with the neutron number N=20. The results are explained by state-of-the-art shell model calculations. Coupled-cluster computations based on effective field theories of the strong nuclear force describe the matter radius of ^{27}F but are challenged for ^{29}F

    Molecular imaging of angiogenesis with SPECT

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    Single-photon emission computed tomography (SPECT) and position emission tomography (PET) are the two main imaging modalities in nuclear medicine. SPECT imaging is more widely available than PET imaging and the radionuclides used for SPECT are easier to prepare and usually have a longer half-life than those used for PET. In addition, SPECT is a less expensive technique than PET. Commonly used gamma emitters are: 99mTc (Emax 141 keV, T1/2 6.02 h), 123I (Emax 529 keV, T1/2 13.0 h) and 111In (Emax 245 keV, T1/2 67.2 h). Compared to clinical SPECT, PET has a higher spatial resolution and the possibility to more accurately estimate the in vivo concentration of a tracer. In preclinical imaging, the situation is quite different. The resolution of microSPECT cameras (<0.5 mm) is higher than that of microPET cameras (>1.5 mm). In this report, studies on new radiolabelled tracers for SPECT imaging of angiogenesis in tumours are reviewed

    Topological relationships between complex spatial objects

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    For a long time topological relationships between spatial objects have been a focus of research in a number of disciplines like artificial intelligence, cognitive science, linguistics, robotics, and spatial reasoning. Especially as predicates they support the design of suitable query languages for spatial data retrieval and analysis in spatial databases and geographical information systems (GIS). Unfortunately, they have so far only been defined for and applicable to simplified abstractions of spatial objects like single points, continuous lines, and simple regions. With the introduction of complex spatial data types an issue arises regarding the design, definition, and number of topological relationships operating on these complex types. This article closes this gap and first introduces definitions of general and versatile spatial data types for complex points, complex lines, and complex regions. Based on the well known 9-intersection model, it then determines the complete sets of mutually exclusive topological relationships for all type combinations. Completeness and mutual exclusion are shown by a proof technique called proof-by-constraint-and-drawing. Due to the resulting large numbers of predicates and the difficulty of handling them, the user is provided with the concepts of topological cluster predicates and topological predicate groups, which permits one to reduce the number of predicates to be dealt with in a user-defined and/or application-specific manner
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