445 research outputs found

    100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report

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    Genomics of platelet disorders

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    Dense and accurate motion and strain estimation in high resolution speckle images using an image-adaptive approach

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    Digital image processing methods represent a viable and well acknowledged alternative to strain gauges and interferometric techniques for determining full-field displacements and strains in materials under stress. This paper presents an image adaptive technique for dense motion and strain estimation using high-resolution speckle images that show the analyzed material in its original and deformed states. The algorithm starts by dividing the speckle image showing the original state into irregular cells taking into consideration both spatial and gradient image information present. Subsequently the Newton-Raphson digital image correlation technique is applied to calculate the corresponding motion for each cell. Adaptive spatial regularization in the form of the Geman-McClure robust spatial estimator is employed to increase the spatial consistency of the motion components of a cell with respect to the components of neighbouring cells. To obtain the final strain information, local least-squares fitting using a linear displacement model is performed on the horizontal and vertical displacement fields. To evaluate the presented image partitioning and strain estimation techniques two numerical and two real experiments are employed. The numerical experiments simulate the deformation of a specimen with constant strain across the surface as well as small rigid-body rotations present while real experiments consist specimens that undergo uniaxial stress. The results indicate very good accuracy of the recovered strains as well as better rotation insensitivity compared to classical techniques

    Pseudohomozygous dysfibrinogenemia

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    Abstract Hypodysfibrinogenemia (HD) is a heterogeneous disorder in which plasma fibrinogen antigen and function are both reduced but discordant. This report addresses the key clinical question of whether genetic analysis enables clinically useful subclassification of patients with HD. We report a new case and identify a further eight previously documented cases that have the laboratory features of HD but biallelic inheritance of quantitative and qualitative fibrinogen gene variants. The cases displayed both bleeding and thrombosis and sometimes had undetectable fibrinogen activity. In all cases, the predicted effect of the coinherited variants is reduced levels of circulating fibrinogen that is all dysfunctional. We propose the term pseudohomozygous dysfibrinogenemia for this subtype of recessively inherited HD that is distinct from the more commonly recognized monoallelic HD caused by a single fibrinogen gene variant
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