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Total 11221 results found since Jan 2013.

Loss of Mtm1 causes cholestatic liver disease in a model of X-linked myotubular myopathy
X-linked myotubular myopathy (XLMTM) is a fatal congenital disorder caused by mutations in the MTM1 gene. Currently, there are no approved treatments, although AAV8-mediated gene transfer therapy has shown promise in animal models and preliminarily in patients. However, 4 patients with XLMTM treated with gene therapy have died from progressive liver failure, and hepatobiliary disease has now been recognized more broadly in association with XLMTM. In an attempt to understand whether loss of MTM1 itself is associated with liver pathology, we have characterized what we believe to be a novel liver phenotype in a zebrafish mode...
Source: Journal of Clinical Investigation - September 15, 2023 Category: Biomedical Science Authors: Sophie Karolczak, Ashish R. Deshwar, Evangelina Aristegui, Binita M. Kamath, Michael W. Lawlor, Gaia Andreoletti, Jonathan Volpatti, Jillian L. Ellis, Chunyue Yin, James J. Dowling Source Type: research

Clinical and Laboratory Findings on Glycogen Storage Disease Type V: Results from a Retrospective Observational Study in a Tertiary Hospital
Conclusion - GSDV is rare and presents in the pediatric age, with subtle manifestations often underestimated for decades. A late diagnosis may negatively impact the psychosocial development of affected children. It is essential to recognize some unique features that facilitate diagnosis: history of exercise intolerance, the second wind sign, and high resting serum CK levels. Identifying the disease-causing variants in PYGM is currently the gold standard for diagnosis as it is less invasive than performing a muscle biopsy, and may promptly diagnose the condition and avoid wrongful labelling of patients.PMID:37711120 | DOI:1...
Source: Endocrine, Metabolic and Immune Disorders Drug Targets - September 15, 2023 Category: Drugs & Pharmacology Authors: Ângela Pereira Jorge Diogo da Silva Ana Rita Soares Arlindo Guimas Sara Rocha M árcio Cardoso Cristina Garrido C élia Azevedo Soares Isabel Nunes Ana Maria Fortuna Dulce Quelhas S ónia Figueiroa Rosa Ribeiro Manuela Santos Esmeralda Martins Nataliya T Source Type: research

Reversible cardiac function and left ventricular hypertrophy in a Chinese man with mitochondrial myopathy: a case report
Mitochondrial myopathies (MMs) are a group of multi-system diseases caused by abnormalities in mitochondrial DNA (mtDNA) or mutations of nuclear DNA (nDNA). The diagnosis of mitochondrial myopathy (MM) is reli...
Source: BMC Cardiovascular Disorders - September 15, 2023 Category: Cardiology Authors: Guiping Wu, Yijun Han, Lifeng Zhao, Hong Zhang, Xiuzhao Fan, Weiqin Li, Xiaowen Che and Yun Zhou Tags: Research Source Type: research

Immunopathological features of myopathy associated with small-to-medium-sized vessel vasculitis and differences from autoimmune myositis
CONCLUSIONS: Patients with vasculitis demonstrated mild myofiber damage based on the lower involvement of CD56/NCAM-expressing myofibers compared to those with AIM. Complement component deposits on the vessel walls and hypervascularity in the endomysium areas may be immunopathological features of vasculitic myopathy.PMID:37706291 | DOI:10.55563/clinexprheumatol/hpoapl
Source: Clinical and Experimental Rheumatology - September 14, 2023 Category: Rheumatology Authors: Shun Nomura Yasuhiro Shimojima Takanori Ichikawa Daigo Miyazaki Akinori Uruha Dai Kishida Yoshiki Sekijima Source Type: research