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Treatment of giant fecalith colonic obstruction in a patient with Duchenne muscular dystrophy using endoscopic injection of hydrogen peroxide: a case report and literature review.
Front Med (Lausanne)
December 2024
Department of Hepatobiliary Surgery, First People's Hospital of Xiaoshan District, Hangzhou, Zhejiang, China.
Introduction: Duchenne muscular dystrophy (DMD) is an X-linked recessive genetic disorder primarily affecting cardiac and skeletal muscles, with gastrointestinal obstruction being an infrequent complication.
Case Report: We present a 17-year-old boy with DMD (G-to-T transversion at c.4150 in the gene encoding dystrophin protein) who developed severe colonic obstruction due to fecal impaction.
Organ Tropism of Larval Stages in Infected African Giant Snails ().
Pathogens
October 2024
Institute of Parasitology, Biomedical Research Center Seltersberg (BFS), Justus Liebig University Giessen, 35392 Giessen, Germany.
is a metastrongyloid lungworm causing severe cardiovascular disease in domestic and wild animals. During its heteroxenous life cycle, requires obligate gastropod intermediate hosts. Little is known about larval organ tropism and development in gastropod intermediate hosts.
View Article and Find Full Text PDFUrinary titin reflects the severity of walking ability, muscle strength, and muscle and cardiac damage in patients with Becker muscular dystrophy.
Clin Chim Acta
January 2025
Graduate School of Science, Technology and Innovation, Kobe University, Kobe, Japan.
Background: Becker muscular dystrophy (BMD) is a dystrophinopathy caused by a pathological variant of the DMD gene. Urinary titin, a degradation product of the giant protein titin present in muscle sarcomeres, has been used as a biomarker to reflect muscle degradation in Duchenne muscular dystrophy, a more severe dystrophinopathy. However, the clinical significance of urinary titin levels in BMD remains unclear.
View Article and Find Full Text PDFImmune-Mediated Megaconial Myopathy: A Novel Subtype of Autoimmune Myopathy.
Neurology
November 2024
From the Department of Neurology (A.R.S., M.M., D.S., T.L.), Mayo Clinic, Rochester, MN; Department of Laboratory Medicine and Pathology (O.N.), Hennepin Healthcare, Minneapolis, MN; Department of Neurology (A.C.M.), University of North Carolina, Chapel Hill; Department of Neurology (A.S.), Northwestern University, Chicago, IL; Division of Rheumatology (C.H.), Department of Medicine, Northwestern University, Chicago, IL; Departments of Laboratory Services (W.F.R.), Neurology (M.M.A.), and Medicine (R.M.A.), Johns Hopkins Aramco Healthcare, Dhahran, Saudi Arabia; Center for Gene Therapy (S.N.), Nationwide Children's Hospital, Columbus, OH; and Department of Medicine (P.S.), Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Article Synopsis
- - This study introduces a new type of autoimmune myopathy called immune-mediated megaconial myopathy (IMMM), which is recognized by the presence of giant mitochondria in muscle tissue.
- - Researchers analyzed data from the Mayo Clinic to identify five patients with cases of IMMM, who displayed symptoms like progressive muscle weakness, high creatine kinase levels, and specific muscle fiber characteristics.
- - Treatment with immunomodulatory therapy showed improvements in most patients, and interestingly, all of them had simultaneous pancreatic diseases, suggesting a possible link that requires further investigation.
A new carcharodontosaurid specimen sheds light on the anatomy of South American giant predatory dinosaurs.
Naturwissenschaften
October 2024
Laboratorio de Anatomía Comparada y Evolución de los Vertebrados, Museo Argentino de Ciencias Naturales "Bernardino Rivadavia" (CONICET), Av. Ángel Gallardo 470, C1405DJR, Buenos Aires, Argentina.
Carcharodontosaurids were gigantic terrestrial dinosaurs and top predators of dinosaur faunas in Gondwanan landmasses during the "Mid"-Cretaceous Period. Despite their wide geographical and stratigraphical distribution, essential parts of their anatomy are still poorly known. The present contribution aims to describe a new partial skeleton of the carcharodontosaurid Taurovenator violantei, which was previously known only by an isolated postorbital bone coming from Cenomanian-Turonian beds of northern Patagonia, Argentina.
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