Objectives: Telemedicine has become a widely accepted alternative to face-to-face patient encounters. Although there have been several peer-reviewed journal articles on incorporating telemedicine into the medical school curriculum, particularly during the COVID-19 pandemic, assessments of the effectiveness of remote supervision of medical students have not been reported. This prospective cohort study of student subjects using observational survey data evaluated the efficacy of telemedicine as an educational resource by comparing learning outcomes between osteopathic medical students receiving direct (physically present) supervision with a group who received remote (telemedicine) supervision by clinical faculty within a post-acute/long-term care (PA/LTC) setting.
View Article and Find Full Text PDFMyotonic dystrophy (DM), an autosomal dominant neuromuscular disease, is associated with expansion of a polymorphic (CTG)n repeat in the 3'-untranslated region of the DM protein kinase (DMPK) gene. The repeat expansion results in decreased levels of DMPK mRNA and protein, but the mechanism for this decreased expression is unknown. Loss of a nuclease-hypersensitive site in the region of the repeat expansion has been observed in muscle and skin fibroblasts from DM patients, indicating a change in local chromatin structure.
View Article and Find Full Text PDFPelizaeus-Merzbacher disease is a rare, sex-linked recessive, dysmyelinating disease of the central nervous system that has been associated with mutations in the myelin proteolipid protein (PLP) gene. Only 25% of patients studied with Pelizaeus-Merzbacher disease have exonic mutations in this gene, the underlying cause of the disease in the remaining patients is unknown. The PLP gene encodes two major alternatively spliced transcripts called PLP and DM20.
View Article and Find Full Text PDFThe myotonic dystrophy (DM) mutation has been identified as an unstable, expanded (CTG)n repeat in the 3' untranslated region of a gene designated DM protein kinase (DMPK). Both decreased and increased levels of mutant DMPK mRNA as well as decreased levels of protein have been variously reported and invoked to explain disparate molecular bases of this dominantly inherited disease. Most recently, increased nucleosome binding to such expanded repeats has been interpreted as support for transcriptional repression.
View Article and Find Full Text PDFMyotonic dystrophy is an autosomally dominant inherited disease in which system-wide abnormalities are caused by a triplet repeat expansion within the 3' untranslated region of the myotonic dystrophy protein kinase (DMPK) gene. To determine the effect an expanded repeat region has on DMPK expression, we have separated the chromosome 19 homologues from a 36-year-old woman with myotonic dystrophy into different cell lines by way of somatic cell hybridization. Hybrid DM9101 contains the normal DMPK allele (13 repeats), whereas hybrid DM1115 harbors the mutant allele (approximately 133 repeats).
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