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AHA/ASA Journals19h
Family Screening in Relatives at Risk for Plakophilin-2–Associated Arrhythmogenic Right Ventricular Cardiomyopathy
BACKGROUND: Penetrance and risk of ventricular arrhythmias (VAs) in arrhythmogenic right ventricular cardiomyopathy (ARVC) are increasingly recognized as being genotype specific. Therefore, ...
ahajournals.org5d
Abstract 15050: Dilated Cardiomyopathy Includes Arrhythmogenic Cardiomyopathy as a Type With Severe Myocardial Degeneration
Examination of ACM-related genes by next-generation sequencing (NGS) of patients meeting the ARVC diagnostic criteria has revealed that a large number of them have genetic variances related to dilated ...
BMJ5d
Chronic inflammatory demyelinating polyneuropathy: update on diagnosis, immunopathogenesis and treatment
The diagnostic criteria for CIDP that were developed by the EFNS/PNS1 are most commonly used and distinguish CIDP from other neuropathic conditions with high sensitivity and specificity. Nevertheless, ...
jmg.bmj6d
Updates on diagnostic criteria for hereditary haemorrhagic telangiectasia in the light of whole genome sequencing of ‘gene-negative’ individuals recruited to the 100 000 ...
In conclusion, it was already known that HHT can be present when patients do not meet consensus clinical criteria,14 and this study adds that it is also possible to meet consensus clinical criteria ...
gut.bmj6d
British Society of Gastroenterology and UK-PSC guidelines for the diagnosis and management of primary sclerosing cholangitis
These guidelines on the management of primary sclerosing cholangitis (PSC) were commissioned by the British Society of Gastroenterology liver section. The guideline writing committee included medical ...