57 research outputs found

    Bland-White-Garland Syndrome in an Elderly Woman

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    Denoising using deep-learning-based reconstruction for whole-heart coronary MRA with sub-millimeter isotropic resolution at 3 T: a volunteer study

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    PURPOSEThe aim of this study was to assess the usefulness of denoising deep-learning-based reconstruction (dDLR) to improve image quality and vessel delineation in noncontrast 3-T wholeheart coronary magnetic resonance angiography (WHCMRA) with sub-millimeter isotropic resolution (Sub-mm) compared with a standard resolution without dDLR (Standard).METHODSFor 10 healthy volunteers, we acquired the WHCMRA with Sub-mm with and without dDLR and Standard to quantify signal- (SNR) and contrast-to-noise ratio (CNR) and vessel edge signal response (VESR) in all the 3 image types. Two independent readers subjectively graded vessel sharpness and signal homogeneity of 8 coronary segments in each patient. We used Kruskal– Wallis test with Bonferroni correction to compare SNR, CNR, VESR, and the subjective evaluation scores among the 3 image types and weighted kappa test to evaluate inter-reader agreement on the scores.RESULTSSNR was significantly higher with Sub-mm with dDLR (P .05); the subjective signal homogeneity was significantly improved from Sub-mm without dDLR to Standard to Sub-mm with dDLR (P < .001). The inter-reader agreement was excellent (kappa=0.84).CONCLUSIONApplication of dDLR is useful for improving image quality and vessel delineation in the WHCMRA with Sub-mm compared with Standard

    Sodium Channelopathy Underlying Familial Sick Sinus Syndrome With Early Onset and Predominantly Male Characteristics

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    Background-Sick sinus syndrome (SSS) is a common arrhythmia often associated with aging or organic heart diseases but may also occur in a familial form with a variable mode of inheritance. Despite the identifcation of causative genes, including cardiac Na channel (SCN5A), the pathogenesis and molecular epidemiology of familial SSS remain undetermined primarily because of its rarity. Methods and Results-We genetically screened 48 members of 15 SSS families for mutations in several candidate genes and determined the functional properties of mutant Na channels using whole-cell patch clamping. We identifed 6 SCN5A mutations including a compound heterozygous mutation. Heterologously expressed mutant Na channels showed loss-of-function properties of reduced or no Na current density in conjunction with gating modulations. Among 19 family members with SCN5A mutations, QT prolongation and Brugada syndrome were associated in 4 and 2 individuals, respectively. Age of onset in probands carrying SCN5A mutations was signifcantly less (mean±SE, 12.4±4.6 years; n=5) than in SCN5A-negative probands (47.0±4.6 years; n=10; P<0.001) or nonfamilial SSS (74.3±0.4 years; n=538; P<0.001). Meta-analysis of SSS probands carrying SCN5A mutations (n=29) indicated profound male predominance (79.3%) resembling Brugada syndrome but with a considerably earlier age of onset (20.9±3.4 years). Conclusions-The notable pathophysiological overlap between familial SSS and Na channelopathy indicates that familial SSS with SCN5A mutations may represent a subset of cardiac Na channelopathy with strong male predominance and early clinical manifestations

    Susceptibility of Varicella-Zoster Virus to Thymidine Analogues

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    Susceptibility of Varicella-Zoster Virus to Thymidine Analogues

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