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Filamin c missense variant associated with severe right atrial disease and skeletal myopathy
ConclusionFilamin C missense variant (c.925G>A p.(Glu309Lys) is associated with severe right atrial disease. Considering co-segregation with the disease (PP1 Supporting), this variant should be classified as likely pathogenic.This article is protected by copyright. All rights reserved.
Source: Journal of Cardiovascular Electrophysiology - August 19, 2021 Category: Cardiology Authors: Giulio Conte, Flavia Piciacchia, Argelia Medeiros Domingo, Susanna Grego, Paolo Ripellino, Angelo Auricchio Tags: BRIEF COMMUNICATION Source Type: research

The clinical and genetic heterogeneity analysis of five families with primary periodic paralysis.
Authors: Wang Q, Zhao Z, Shen H, Bing Q, Li N, Hu J Abstract To explore the clinical and genetic characteristics of five families with primary periodic paralysis (PPP). We reviewed clinical manifestations, laboratory results, electrocardiogram, electromyography, muscle biopsy, and genetic analysis from five families with PPP. Five families with PPP included: hypokalemic periodic paralysis type 1 (HypoPP1, CACNA1S, 1/5), hypokalemic periodic paralysis type 2 (HypoPP2, SCN4A, 2/5), normokalemic periodic paralysis (NormoPP, SCN4A, 1/5), and Andersen-Tawil syndrome (ATS, KCNJ2, 1/5). The basic clinical manifestations o...
Source: Channels - December 22, 2020 Category: Molecular Biology Tags: Channels (Austin) Source Type: research

Anti-mitochondrial M2 Antibodies Enhance the Risk of Supraventricular Arrhythmias in Patients with Elevated Hepatobiliary Enzyme Levels.
Conclusion AMA-M2 enhances the risk of supraventricular arrhythmias, indicating the possible involvement of the atrial myocardium and the formation of an arrhythmogenic substrate. The results highlight the need for clinical attention to supraventricular arrhythmias in AMA-M2-positive patients. PMID: 28717071 [PubMed - in process]
Source: Internal Medicine - July 20, 2017 Category: Internal Medicine Tags: Intern 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

Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies
ConclusionsTruncating mutations in FLNC caused an overlapping phenotype of dilated and left-dominant arrhythmogenic cardiomyopathies complicated by frequent premature sudden death. Prompt implantation of a cardiac defibrillator should be considered in affected patients harboring truncating mutations in FLNC.
Source: Journal of the American College of Cardiology - November 29, 2016 Category: Cardiology Source Type: research

Autism in the Son of a Woman with Mitochondrial Myopathy and Dysautonomia: A Case Report
Conclusion Given emerging evidence that mitochondrial dysfunction, particularly in the electron transport chain needed for cellular energy production, is an underlying pathophysiological mechanism for some varieties of ASD, clinicians should have a high index of suspicion for mitochondrial disease, especially when they encounter a patient with unusual neurological or constitutional symptoms. The prevalence of mitochondrial disease in ASD patients may be as high as five percent, which means that it is not the “zebra”[27] diagnosis that it might be in a non-ASD patient, where prevalence is about 0.01 percent.10 Reference...
Source: Innovations in Clinical Neuroscience - October 9, 2015 Category: Neuroscience Authors: ICN Online Editor Tags: Anxiety Disorders Asperger's syndrome Autism Behavioral and Cognitive Neurology Case Report Current Issue Intellectual Disability Neurologic Systems and Symptoms Pervasive Developmental Disorders ASD autism spectrum disorder dysauton Source Type: research

Cardiac involvement in Duchenne and Becker muscular dystrophy.
Abstract Duchenne and Becker muscular dystrophy (DMD/BMD) are X-linked muscular diseases responsible for over 80% of all muscular dystrophies. Cardiac disease is a common manifestation, not necessarily related to the degree of skeletal myopathy; it may be the predominant manifestation with or without any other evidence of muscular disease. Death is usually due to ventricular dysfunction, heart block or malignant arrhythmias. Not only DMD/BMD patients, but also female carriers may present cardiac involvement. Clinically overt heart failure in dystrophinopathies may be delayed or absent, due to relative physical ina...
Source: World Journal of Cardiology - July 26, 2015 Category: Cardiology Authors: Mavrogeni S, Markousis-Mavrogenis G, Papavasiliou A, Kolovou G Tags: World J Cardiol 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

Andersen–Tawil Syndrome With Early Fixed Myopathy
We present a 19-year-old man with characteristic skeletal dysmorphic features of ATS, early nonfluctuating proximal lower limb weakness from childhood, and neonatal focal seizures. He later developed fluctuating weakness in addition to a fixed proximal myopathy. A 12-lead electrocardiogram showed prominent “U” waves, and McManis protocol prolonged exercise test showed an unusually early decline in the compound motor action potential amplitude by 51%. Genetic testing revealed a de novo heterozygous mutation (R218W) in KCNJ2 associated with ATS. This is the first reported case of ATS in an Irish population with an unusua...
Source: Journal of Clinical Neuromuscular Disease - November 22, 2014 Category: Neurology Tags: Case Review Source Type: research