Publications by authors named "Maria E Michelini"
Dystrophin is a subsarcolemmal protein that, by linking the actin cytoskeleton to the extracellular matrix via dystroglycans, is critical for the integrity of muscle fibers. Here, we report that epidermal melanocytes, obtained from conventional skin biopsy, express dystrophin with a restricted localization to the plasma membrane facing the dermal-epidermal junction. In addition the full-length muscle isoform mDp427 was clearly detectable in melanocyte cultures as assessed by immunohistochemistry, RNA, and Western blot analysis.
View Article and Find Full Text PDFSix individuals with Ullrich congenital muscular dystrophy (UCMD) and mutations in the genes-encoding collagen VI, aging 5-9, received 3-5 mg/kg of cyclosporine A (CsA) daily for 1 to 3.2 years. The primary outcome measure was the muscle strength evaluated with a myometer and expressed as megalimbs.
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- A case study of an 8-year-old boy with a red cell membrane disorder who developed portal vein thrombosis following laparoscopic surgery, specifically cholecystectomy and splenectomy.
- The child had a history of right hemiparesis due to a hypoxic-ischemic event at birth and carried a specific genetic mutation related to folate metabolism.
- Treatment involved the use of intravenous heparin and aspirin, leading to symptom relief within three days and complete resolution of the thrombosis two months later, alongside a discussion of potential causes for the thrombosis based on existing literature.