Myology research highlights
RSS feedAffinity proteomics to identify biomarkers in rare diseases
Despite the recent progress in the broad-scaled analysis of proteins in body fluids, there is still a lack in protein profiling approaches for biomarkers of rare diseases. Scarcity of samples is the main obstacle hindering attempts to apply discovery driven protein profiling in rare diseases. In this paper, the authors addressed this challenge by combining … [Read more]
POMK mutations lead to diverse clinical presentations
Dystroglycan is a transmembrane glycoprotein whose interactions with the extracellular matrix (ECM) are necessary for normal muscle and brain development, and disruptions of its function lead to dystroglycanopathies, a group of congenital muscular dystrophies showing extreme genetic and clinical heterogeneity. Specific glycans bound to the extracellular portion dystroglycan, α-dystroglycan, mediate ECM interactions and most known … [Read more]
Four-year natural history study in sporadic inclusion body myositis: Implications for therapeutic trials
Natural history studies in sporadic inclusion body myositis are of fundamental interest for future therapeutic trials. Previous studies have demonstrated the particular relevance of knee extension strength in the follow-up of this disease. Here, the authors aimed to extend an earlier 9-month natural history study to a four-year period. Thirteen patients were assessed using clinical … [Read more]
Clinically amyopathic dermatomyositis: a case series study
Clinically amyopathic dermatomyositis (CADM) is characterized by the presence of specific cutaneous manifestations of dermatomyositis (DM) without clinical signs of muscular involvement. The aim of this study was to examine the prevalence, clinical characteristics, and outcome of patients with CADM followed at our Rheumatology Unit. Clinical charts of patients diagnosed as DM were retrospectively examined. … [Read more]
Clinical and myopathological features of patients with scleroderma-polymyositis overlap syndrome, systemic sclerosis and polymyositis
This study aimed to characterize the clinical and myopathological features of patients with scleroderma-polymyositis (SSc-PM) overlap syndrome compared to a population of patients with systemic sclerosis (SSc) and polymyositis (PM). A three-way comparison of clinical and myopathological features and causes of death was carried out between patients with SSc-PM overlap syndrome (n = 25), patients … [Read more]
DUX4 expression is the major molecular signature in FSHD muscle
Facioscapulohumeral dystrophy (FSHD) is caused by decreased epigenetic repression of the D4Z4 macrosatellite array and recent studies have shown that this results in the expression of low levels of the DUX4 mRNA in skeletal muscle. Several other mechanisms have been suggested for FSHD pathophysiology and it remains unknown whether DUX4 expression can account for most … [Read more]
Efficacy of fecal microbiota transplant in the treatment of toxic megacolon in a DMD patient
Clostridium difficile (C diff) colitis infection is the most common cause of nosocomial infectious diarrhea and the prevalence is increasing worldwide. Toxic megacolon is a severe complication of C diff colitis associated with high mortality. Gastrointestinal (GI) comorbidity and impaired smooth muscle contraction are risk factors for the development of C diff-associated toxic megacolon. This … [Read more]
Distinct variability in severity of left ventricular dysfunction in DMD
Prognosis in patients with Duchenne muscular dystrophy (DMD) is guarded, and most deaths are due to cardiac or respiratory causes. It is unclear if some DMD gene mutations might be predictive of either mild or severe cardiac dysfunction. Here, the authors studied 75 patients with DMD followed at their institution. Cardiac function, as assessed by … [Read more]
A novel quantitative morphometry approach to assess regeneration in dystrophic skeletal muscle
Duchenne muscular dystrophy is an inherited degenerative muscle disease with progressive weakness of skeletal and cardiac muscle. Disturbed calcium homeostasis and signalling pathways result in degeneration/regeneration cycles with fibrotic remodelling of muscle tissue, sustained by chronic inflammation. In addition to altered microarchitecture, regeneration in dystrophic muscle fibres is often only classified by centrally located nuclei … [Read more]
Beneficial effects of NIM811, a non-immunosuppressive cyclophilin inhibitor, in collagen VI congenital muscular dystrophy models
Ullrich Congenital Muscular Dystrophy (UCMD) and Bethlem Myopathy (BM) are inherited muscle diseases due to mutations in the genes encoding the extracellular matrix protein collagen (Col) VI. Opening of the cyclosporin A-sensitive mitochondrial permeability transition pore is a causative event in disease pathogenesis, and a potential target for therapy. Here the authors have tested the … [Read more]
