Congenital muscular dystrophies

Integrin α7 encoded by ITGA7 is highly expressed in skeletal and cardiac muscle and contributes to sarcolemmal stability by binding to laminin α2. Three unrelated patients were previously reported with ITGA7-linked congenital muscular dystrophy. Here, we report three patients from two unrelated families pr esenting with adult-onset cardiac arrhythmia and respiratory weakness due to recessive null mutations in ITGA7. Patient I, a 51-year-old male presented with delayed motor milestones, stridor since birth, cardiac arrhythmia (frequent ventricular ectopy, non-sustained ventricular tachycardia and prema ture conduction disease) requiring ICD at 46 years.
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research

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Muscular dystrophies are debilitating disorders that result in progressive weakness and degeneration of skeletal muscle. Although the genetic mutations and clinical abnormalities of a variety of neuromuscular diseases are well known, no curative therapies have been developed to date. The advent of genome editing technology provides new opportunities to correct the underlying mutations responsible for many monogenic neuromuscular diseases. For example, Duchenne muscular dystrophy, which is caused by mutations in the dystrophin gene, has been successfully corrected in mice, dogs, and human cells through CRISPR/Cas9 editing. ...
Source: Journal of Clinical Investigation - Category: Biomedical Science Authors: Source Type: research
Abstract Professor Andrew John Lees, from the National Hospital for Neurology and Neurosurgery, a neurological hospital in Queen Square, London, UK, has contributed in a stupendous way to the development of the field of movement disorders in Brazil, with a constant and intense participation in numerous congresses and scientific meetings of this specialty since 1983.Resumo O professor Andrew Lees, do National Hospital for Neurology and Neurosurgery, Queen Square, Londres, Reino Unido, tem contribu ído de maneira estupenda para o desenvolvimento da área dos distúrbios do movimento no Brasil, com uma part...
Source: Arquivos de Neuro-Psiquiatria - Category: Neurology Source Type: research
CONCLUSION: We report the successful management of anesthesia without lethal arrhythmia in a patient with ARVC and an ICD. An adequate amount of analgesia should be administered during general anesthesia to maintain adequate anesthetic depth and to avoid stress and pain. PMID: 32473832 [PubMed - as supplied by publisher]
Source: Revista Brasileira de Anestesiologia - Category: Anesthesiology Tags: Rev Bras Anestesiol Source Type: research
VERDICT: The hypothesis that the 4-aminoquinolines chloroquine and hydroxychloroquine may be beneficial in the treatment of COVID-19 is a weak one, based on poor mechanistic reasoning and inconsistent results of studies in vitro, in laboratory animals, and in humans. It is likely that even if chloroquine and hydroxychloroquine are effective in COVID-19, the beneficial effects will be small. The risks of adverse reactions to these drugs may be increased in patients who are acutely ill with severe COVID-19, in many of whom high doses are being used. Macrolide antibacterial drugs, such as azithromycin, clarithromycin, ery...
Source: Current Awareness Service for Health (CASH) - Category: Consumer Health News Source Type: news
Condition:   Anorectal Disorder Intervention:   Other: Cough and Valsalva effort Sponsor:   Gérard Amarenco Recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Electrical stimulation (ES) by peripheral (transpalpebral/transorbital/transcorneal) approach seems to currently be one of the most promising rehabilitative techniques, which are aimed at the restoration of the visual function in low vision (LV) patients affected by degenerative diseases. The non-invasiveness of this methodology and its many positive effects on multiple retinal cell targets have led to the use of ES in patients with ischemic optic neuritis, traumatic optic nerve lesions, retinitis pigmentosa (RP), cone-rod dystrophy, Best disease, Stargardt disease, retinal vascular occlusions, glaucoma, and dry and wet ag...
Source: BRAIN STIMULATION: Basic, Translational, and Clinical Research in Neuromodulation - Category: Neurology Authors: Source Type: research
In this study, the number of sensory neurons in the human JG was investigated. And, the morphology of sensory neurons in the human JG and nodose ganglion (NG) was compared. The estimated number of JG neurons was 2721.8-9301.1 (average number of sensory neurons ± S.D. = 7975.1 ± 3312.8). There was no significant difference in sizes of the neuronal cell body and nucleus within the JG (cell body, 1128.8 ± 99.7 μ m2; nucleus, 127.7 ± 20.8 μ m2) and NG (cell body, 963.8 ± 225.7 μ m2; nucleus, 123.2 ± 32.3 μ m2). These findings indicate tha...
Source: Tissue and Cell - Category: Cytology Authors: Tags: Tissue Cell Source Type: research
===================================MY Comment by KEN GRAUER, MD (6/1/2020):===================================YOU are asked to interpret the ECG shown in Figure-1. Unfortunately, no history is available to assist.WHAT are the diagnostic possibilities for the rhythm?What are the prognostic implications of this rhythm?Figure-1: The initial ECG in the ED. Please note that the long lead II rhythm strip is not simultaneously obtained with the 12-lead tracing above it. (See text).MY THOUGHTS on ECG #1: My initial impression on looking at the ECG...
Source: Dr. Smith's ECG Blog - Category: Cardiology Authors: Source Type: blogs
Publication date: August 2020Source: Pharmacological Research, Volume 158Author(s): Brigida Boccanegra, Ingrid E.C. Verhaart, Ornella Cappellari, Elizabeth Vroom, Annamaria De Luca
Source: Pharmacological Research - Category: Drugs & Pharmacology Source Type: research
CONCLUSIONS: Further studies are required in order to establish the complicated association between SARS-CoV-2 infection and its effects on the cardiovascular system. Our knowledge regarding diagnostic approaches, therapeutic management and preventive measures is constantly enriched throughout an abundance of ongoing research in the respective fields. PMID: 32472990 [PubMed - as supplied by publisher]
Source: Minerva Cardioangiologica - Category: Cardiology Tags: Minerva Cardioangiol Source Type: research
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