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Pulmonary fibrosis as the sole manifestation of anti-Ku antibody positivity in the absence of myositis: A case report.
Respir Med Case Rep
January 2025
Department of Rheumatology of Lucania - UOSD of Rheumatology, "Madonna delle Grazie" Hospital, Matera, Italy.
Background: Anti-Ku antibodies are autoantibodies directed against the Ku protein complex involved in DNA repair. They are typically associated with overlap syndromes featuring polymyositis and systemic sclerosis. Isolated pulmonary involvement without myositis is exceedingly rare.
View Article and Find Full Text PDFSingle-Site Endoscopic Surgery for Soft Tissue Lesions: An Innovative Technique.
Cureus
December 2024
Department of Pediatric Surgery and Vascular Anomalies, Xi'an International Medical Center Hospital, Xi'an, CHN.
Purpose We aimed to report an innovative single-site endoscopic surgery for soft tissue lesions performed at our center. Methods All patients who underwent soft tissue surgery were reviewed. All consecutive patients who underwent single-site endoscopic surgery between September 2019 and March 2024 were included in the study.
View Article and Find Full Text PDFSerum metabolomic signatures of patients with rare neurogenetic diseases: an insight into potential biomarkers and treatment targets.
Front Mol Neurosci
January 2025
Interdisciplinary Centre for Innovations in Biotechnology and Neuroscience, Faculty of Medical Sciences, University of Sri Jayewardenepura, Nugegoda, Sri Lanka.
Introduction: To further advance our understanding of Muscular Dystrophies (MDs) and Spinocerebellar Ataxias (SCAs), it is necessary to identify the biological patterns associated with disease pathology. Although progress has been made in the fields of genetics and transcriptomics, there is a need for proteomics and metabolomics studies. The present study aimed to be the first to document serum metabolic signatures of MDs (DMD, BMD, and LGMD 2A) SCAs (SCA 1-3), from a South Asian perspective.
View Article and Find Full Text PDFGlycogen storage disease type III (GSD III) is a rare metabolic disorder characterized by a deficiency of liver and muscle amylo-1,6-glucosidase. This condition presents with severe hepatic symptoms in childhood, mostly hepatomegaly, hypoglycemia in half of patients, while muscular complications may predominate in adulthood. Hepatic fibrosis, cirrhosis and hepatocellular carcinoma (HCC) are common complications in older patients.
View Article and Find Full Text PDF[Guidelines for presymptomatic genetic testing for adult-onset hereditary neuromuscular diseases in Japan].
Rinsho Shinkeigaku
January 2025
Division of Clinical Genetics, Hokkaido University Hospital.
In Japan, there are no nationwide guidelines for presymptomatic testing for hereditary neuromuscular diseases. Although each institution has been dealing with this situation by using their own procedures to date, it is necessary to develop a standardized guidelines based on the Japanese medical system, because the development of disease-modifying therapies has progressed, and we are entering an era in which early diagnosis and early treatment are necessary. The guidelines presented here were devised by the Committee on Medical Genetics of the Japan Neurological Society.
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