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Multi-omics analysis in inclusion body myositis identifies mir-16 responsible for HLA overexpression.
Orphanet J Rare Dis
January 2025
Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Background: Inclusion Body Myositis is an acquired muscle disease. Its pathogenesis is unclear due to the co-existence of inflammation, muscle degeneration and mitochondrial dysfunction. We aimed to provide a more advanced understanding of the disease by combining multi-omics analysis with prior knowledge.
View Article and Find Full Text PDFImmunologic investigations into transgene directed immune-mediated myositis following delandistrogene moxeparvovec gene therapy.
Sci Rep
January 2025
Sarepta Therapeutics, Inc., Cambridge, MA, USA.
Delandistrogene moxeparvovec is an rAAVrh74 vector-based gene transfer therapy that delivers a transgene encoding delandistrogene moxeparvovec micro-dystrophin, an engineered, functional form of dystrophin shown to stabilize or slow disease progression in DMD. It is approved in the US and in other select countries. Two serious adverse event cases of immune-mediated myositis (IMM) were reported in the phase Ib ENDEAVOR trial (NCT04626674).
View Article and Find Full Text PDFMeta-analyses uncover the genetic architecture of Idiopathic Inflammatory Myopathies.
Arthritis Rheumatol
December 2024
Institute for Clinical and Translational Research, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA.
Objective: Idiopathic inflammatory myopathies (myositis, IIMs) are rare, systemic autoimmune disorders that lead to muscle inflammation, weakness, and extra-muscular manifestations, with a strong genetic component influencing disease development and progression. Previous genome-wide association studies identified loci associated with IIMs. In this study, we imputed data from two prior genome-wide myositis studies and analyzed the largest myositis dataset to date to identify novel risk loci and susceptibility genes associated with IIMs and its clinical subtypes.
View Article and Find Full Text PDFInflammatory Myopathies and Autoimmune Gluten-related Disorders: A Scoping Review of Pathophysiological Interconnections and Hypothesis.
Recent Adv Inflamm Allergy Drug Discov
October 2024
Department of Rheumatology, Dermatology and Infectious Diseases, Oslo University Hospital, Rikshospitalet, 0424 Oslo, Norway.
Introduction: Anecdotal reports describe patients with concurrent idiopathic inflammatory myopathy (IIM) and celiac disease (CeD) in whom the introduction of a gluten-free diet led to dramatic improvement of myositis. We first systematically reviewed all peer-reviewed publications on concomitant IIM and duodenal biopsy-verified CeD. The collected evidence was suggestive of associations between myositis disease activity and gluten exposure in some patients with IIM-CeD.
View Article and Find Full Text PDFA likely case of chronic graft-versus-host disease polymyositis affecting respiratory and truncal muscles - a comprehensive diagnostic approach.
Blood Cell Ther
November 2024
Department of Haematology, Singapore General Hospital, Singapore.
Article Synopsis
- Polymyositis is a rare complication of graft-versus-host disease (GvHD) that primarily affects muscle tissues, particularly in patients after stem cell transplants.
- A 23-year-old male with chronic myeloid leukemia experienced severe muscle weakness and respiratory issues six months post-transplant, leading to the diagnosis of GvHD polymyositis through various tests including muscle biopsies and imaging.
- The patient responded positively to treatments like corticosteroids and extracorporeal photopheresis, underscoring the need for prompt diagnosis and a collaborative approach to managing this condition.
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