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Danon disease: Two patients with atrial fibrillation in a single family and review of the literature.
Authors: Guo S, Zhou L, Wang R, Lv Z, Xu H, Han B, Korantzopoulos P, Hu F, Liu T Abstract The present study reports on a family with two members affected by Danon disease but having different phenotypes. The clinical manifestations of Danon disease include cardiomyopathy, skeletal myopathy and different degrees of intellectual disability that varies greatly among patients. The present case study reports on two siblings, an older sister and a younger brother, with Danon disease from an affected pedigree, presenting with distinctly different phenotypes. The sister was diagnosed with dilated cardiomyopathy at the age ...
Source: Experimental and Therapeutic Medicine - August 16, 2019 Category: General Medicine Tags: Exp Ther Med Source Type: research

Genome-wide Association Study of Susceptibility to Particulate Matter –Associated QT Prolongation
Conclusions: The findings suggest that biologically plausible genetic factors may alter susceptibility to PM10-associated QT prolongation in populations protected by the U.S. Environmental Protection Agency’s National Ambient Air Quality Standards. Independent replication and functional characterization are necessary to validate our findings. https://doi.org/10.1289/EHP347 Received: 11 April 2016 Revised: 07 September 2016 Accepted: 19 September 2016 Published: 08 June 2017 Address correspondence to R. Gondalia, Department of Epidemiology, University of North Carolina, 137 E. Franklin St., Chapel Hill, NC 27514. Te...
Source: EHP Research - June 8, 2017 Category: Environmental Health Authors: Daniil Lyalko Tags: Research Source Type: research

Characteristic cardiac phenotypes are detected by cardiovascular magnetic resonance in patients with different clinical phenotypes and genotypes of mitochondrial myopathy
Background: Mitochondrial myopathies (MM) are a heterogeneous group of inherited conditions resulting from a primary defect in the mitochondrial respiratory chain with consecutively impaired cellular energy metabolism. Small sized studies using mainly electrocardiography (ECG) and echocardiography have revealed cardiac abnormalities ranging from conduction abnormalities and arrhythmias to hypertrophic or dilated cardiomyopathy in these patients. Recently, characteristic patterns of cardiac involvement were documented by cardiovascular magnetic resonance (CMR) in patients with c hronic p ...
Source: Journal of Cardiovascular Magnetic Resonance - May 22, 2015 Category: Radiology Authors: Anca FlorianAnna LudwigBianca Stubbe-DrägerMatthias BoentertPeter YoungJohannes WaltenbergerSabine RöschUdo SechtemAli Yilmaz Source Type: research

Dilated cardiomyopathy in patients with mutations in anoctamin 5
Conclusions: Dilated cardiomyopathy is a potential complication in patients with myopathies due to mutations in the ANO5 gene whose screening requires specific procedures.
Source: International Journal of Cardiology - October 5, 2012 Category: Cardiology Authors: K. Wahbi, A. Béhin, H.M. Bécane, F. Leturcq, M. Cossée, P. Laforêt, T. Stojkovic, P. Carlier, M. Toussaint, V. Gaxotte, P. Cluzel, B. Eymard, D. Duboc Tags: Original Articles Source Type: research