A female in her 50s with a four-year history of myotonic dystrophy was admitted to our hospital with hematochezia. She was diagnosed with synchronous colonic cancer of the transverse and sigmoid colon, for which she underwent partial transverse and sigmoid colectomy, respectively. Postoperative respiratory failure resulted in prolonged stay in the intensive care unit. Her liver and renal function gradually deteriorated, and she eventually died from these sequelae on postoperative day 26. Intraoperative liver biopsy revealed cirrhosis arising from non-alcoholic steatohepatitis (NASH). Although myotonic dystrophy is believed to be a multisystem disease, its association with cirrhosis has not been reported in Japan. We therefore report this rare case of liver cirrhosis arising from NASH in a patient with myotonic dystrophy.
Download full-text PDF |
Source |
---|
Zh Nevrol Psikhiatr Im S S Korsakova
December 2024
Republican Scientific and Practical Center of Neurology and Neurosurgery, Minsk, Belarus.
Objective: To analyze the results of nocturnal breathing parameters during sleep based on nocturnal pulse oximetry and to study of characteristics of external respiration in genetically confirmed patients with dystrophic myotonia (DM).
Material And Methods: The subjects of the study were patients with genetically confirmed DM types 1 and 2 who were hospitalized in the neurological departments of the Republican Scientific and Practical Center for Neurology and Neurosurgery. The clinical picture of the disease, comorbidities, sleep questionnaires, laboratory tests, overnight pulse oximetry and spirometry were performed and analyzed.
Genetics
December 2024
Institute of Biotechnology, HiLIFE, University of Helsinki, Helsinki 00790, Finland.
Expansion of nucleotide repeat sequences is associated with more than 40 human neuromuscular disorders. The different pathogenic mechanisms associated with the expression of nucleotide repeats are not well understood. We use a Caenorhabditis elegans model that expresses expanded CUG repeats only in cells of the body wall muscle and recapitulate muscle dysfunction and impaired organismal motility to identify the basis by which expression of RNA repeats is toxic to muscle function.
View Article and Find Full Text PDFAs adaptors, catalysts, guides, messengers, scaffolds and structural components, RNAs perform an impressive array of cellular regulatory functions often by recruiting RNA-binding proteins (RBPs) to form ribonucleoprotein complexes (RNPs). While this RNA-RBP interaction network allows precise RNP assembly and the subsequent structural dynamics required for normal functions, RNA motif mutations may trigger the formation of aberrant RNP structures that lead to cell dysfunction and disease. Here, we provide our perspective on one type of RNA motif mutation, RNA gain-of-function mutations associated with the abnormal expansion of short tandem repeats (STRs) that underlie multiple developmental and degenerative diseases.
View Article and Find Full Text PDFBioessays
December 2024
CHU Sainte-Justine Research Center, Montreal, Quebec, Canada.
Myotonic dystrophy type 1 (DM1) is considered a progeroid disease (i.e., causing premature aging).
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!