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Total 61 results found since Jan 2013.

Precision therapy for a medically actionable ATP1A3 variant from a genomic medicine program in an underserved population
ConclusionIn retrospect, his symptomatology matches the known medical conditions associated with theATP1A3 gene namely Alternating Hemiplegia of Childhood 2 (AHC), a rare autosomal dominant disorder with an incidence of 1 in one million. His single nucleotide variant, (c.2401G>A, p.D801N), is predicted to be damaging. The specific amino acid change p.D801N has been previously reported in ClinVar along with the allelic variant p.D801Y and both are considered pathogenic. The identification of this variant altered medical management for this patient as he was started on a calcium antagonist and has reported no further hemi...
Source: Molecular Genetics & Genomic Medicine - August 24, 2023 Category: Genetics & Stem Cells Authors: Cara P. Ford, Rebecca O. Littlejohn, Ryan German, Blake Vuocolo, Jose Aceves, Liesbeth Vossaert, Nichole Owen, Michael Wangler, Carrie A. Schmid, The Texome Project Tags: CLINICAL REPORT Source Type: research

New-onset dermatomyositis following COVID-19: A case report
Coronavirus disease 2019 (COVID-19) is an infectious disease caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Most of the infected individuals have recovered without complications, but a few patients develop multiple organ involvements. Previous reports suggest an association between COVID-19 and various inflammatory myopathies, in addition to autoimmune diseases. COVID-19 has been known to exacerbate preexisting autoimmune diseases and trigger various autoantibodies and autoimmune disease occurrence. Here we report a case of complicated COVID-19 with anti-synthetase autoantibodies (ASSs) presenting ...
Source: Frontiers in Immunology - October 24, 2022 Category: Allergy & Immunology Source Type: research

Myositis
Z Rheumatol. 2022 Oct 13. doi: 10.1007/s00393-022-01278-2. Online ahead of print.ABSTRACTThe S2e guidelines on myositis were completely updated and revised under the leadership of the German Society for Neurology and the participation of many other specialist societies. Immune-mediated necrotizing myopathy and antisynthetase syndrome are now regarded as independent entities in the classification of myositis. With respect to the diagnostics, the guidelines provide concrete recommendations on dysphagia screening, especially for inclusion body myositis and for cancer diagnostics in certain forms of myositis. Following the pos...
Source: Zeitschrift fur Rheumatologie - October 13, 2022 Category: Rheumatology Authors: Peter Korsten Eugen Feist Source Type: research

What Is in the Myopathy Literature?
We cover intensive care unit–acquired neuromuscular disorders associated with coronavirus disease 2019. Outcomes may be worse than expected in these patients, and there is some evidence that coronavirus disease 2019 causes myopathy directly. Corticosteroid regimens in Duchenne muscular dystrophy are addressed including outcomes in pulmonary and cardiac function. A recent article notes a continued diagnostic delay in Duchenne muscular dystrophy. An interesting report of a Canary Islands cohort of patients with oculopharyngeal muscular dystrophy is discussed. Features and clinical pearls related to a series of patients wit...
Source: Journal of Clinical Neuromuscular Disease - September 1, 2022 Category: Neurology Tags: Review Article Source Type: research

Whom should we screen for Cushing's syndrome: The Endocrine Society Practice Guideline Recommendations 2008 revisited
CONCLUSIONS: The 2008 Endocrine Society Practice guideline for screening and diagnosis of CS defined at-risk populations that should undergo testing. These recommendations are still valid in 2022.PMID:35730067 | DOI:10.1210/clinem/dgac379
Source: The Journal of Clinical Endocrinology and Metabolism - June 22, 2022 Category: Endocrinology Authors: Leah T Braun Frederick Vogel Stephanie Zopp Thomas Marchant Seiter German Rubinstein Christina M Berr Heike K ünzel Felix Beuschlein Martin Reincke Source Type: research

Systemic Sclerosis in Zimbabwe: Autoantibody Biomarkers, Clinical, and Laboratory Correlates
ConclusionThe expression of SSc specific autoantibodies is common and associated with known SSc symptoms. The types and frequency of autoantibodies varied with racial groupings. A fifth of the patients were children below the age of 16 years.
Source: Frontiers in Immunology - November 9, 2021 Category: Allergy & Immunology Source Type: research

First Family of MATR3-Related Distal Myopathy From Italy: The Role of Muscle Biopsy in the Diagnosis and Characterization of a Still Poorly Understood Disease
Mutations in the MATR3 gene are associated to distal myopathy with vocal cord and pharyngeal weakness (VCPDM), as well as familiar and sporadic motor neuron disease. To date, 12 VCPDM families from the United States, Germany, Japan, Bulgary, and France have been described in the literature. Here we report an Italian family with a propositus of a 40-year-old woman presenting progressive bilateral foot drop, rhinolalia, and distal muscular atrophy, without clinical signs of motor neuron affection. Her father, deceased some years before, presented a similar distal myopathy phenotype, while her 20-year-old son is asymptomatic....
Source: Frontiers in Neurology - October 1, 2021 Category: Neurology Source Type: research