• Filter By:
• Specialty
• Source
• Condition
• Cancer
• Infectious Disease
• Drug
• Training
• Management
• Procedure
• Therapy
• Vaccine
• Nutrition
• Country

Anti-signal Recognition Particle Antibody-positive Necrotizing Myopathy with Secondary Cardiomyopathy: The First Myocardial Biopsy- and Multimodal Imaging-proven Case.
Authors: Takeguchi-Kikuchi S, Hayasaka T, Katayama T, Kano K, Takahashi K, Saito T, Sawada J, Minoshima A, Sakamoto N, Akasaka K, Miyokawa N, Nishino I, Ishibashi-Ueda H, Hasebe N Abstract A 69-year-old Japanese woman was admitted to our hospital with progressive muscle weakness and dysphagia. She was taking pitavastatin for dyslipidemia. Her serum creatine kinase was 6,300 U/L. Pitavastatin was stopped, but her symptoms deteriorated, and cardiac congestion appeared. A muscle biopsy showed necrotizing myopathy (NM), and anti-signal recognition particle (SRP) antibody was positive. 18F-fluorodeoxyglucose-positron em...
Source: Internal Medicine - July 13, 2019 Category: Internal Medicine Tags: Intern Med Source Type: research

Anti-NT5c1A Autoantibodies as Biomarkers in Inclusion Body Myositis
Conclusions: Anti-NT5c1A has moderate sensitivity and high specificity for sIBM using ALBIA. The presence of anti-NT5c1A antibodies may be associated with muscle weakness. Anti-NT5c1A antibodies were not associated with a specific IIF staining pattern, hence screening using HEp-2 substrate is unlikely to be a useful predictor for presence of these autoantibodies. Introduction Sporadic Inclusion Body Myositis (sIBM) is one subset of idiopathic inflammatory myopathies (IIM) that is characterized by a clinical presentation of asymmetrical muscle involvement, predominantly affecting the long finger flexors, quadriceps mu...
Source: Frontiers in Immunology - April 8, 2019 Category: Allergy & Immunology Source Type: research

Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy
AbstractSeveral genes related to mitochondrial functions have been identified as causative genes of neuropathy or ataxia. Cytochromec oxidase assembly factor 7 (COA7) may have a role in assembling mitochondrial respiratory chain complexes that function in oxidative phosphorylation. Here we identified four unrelated patients with recessive mutations inCOA7 among a Japanese case series of 1396 patients with Charcot-Marie-Tooth disease (CMT) or other inherited peripheral neuropathies, including complex forms of CMT. We also found that all four patients had characteristic neurological features of peripheral neuropathy and atax...
Source: Brain - April 27, 2018 Category: Neurology Source Type: research