Muscular dystrophy has been traditionally associated with common gastrointestinal symptoms such as reflux, constipation, and dysphasia. In myotonic dystrophy, there are rare reports of chronic intestinal pseudoobstruction (CIPOS). We herein present a case of CIPOS requiring colectomy and with good results.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4498855 | PMC |
| http://dx.doi.org/10.1002/ccr3.256 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Msh2-Msh3 DNA-binding is not sufficient to promote trinucleotide repeat expansions in Saccharomyces cerevisiae.
Genetics
January 2025
Department of Biochemistry, Jacobs School of Medicine and Biomedical Sciences, State University of New York at Buffalo, Buffalo, NY 14203, USA.
Mismatch repair (MMR) is a highly conserved DNA repair pathway that recognizes mispairs that occur spontaneously during DNA replication and coordinates their repair. In Saccharomyces cerevisiae, Msh2-Msh3 and Msh2-Msh6 initiate MMR by recognizing and binding insertion deletion loops (in/dels) up to ∼ 17 nucleotides (nt.) and base-base mispairs, respectively; the two complexes have overlapping specificity for small (1-2 nt.
View Article and Find Full Text PDF[Beyond premature apnea pauses: congenital myotonic dystrophy type 1].
Andes Pediatr
October 2024
Departamento de Neuropediatría, Hospital Fundación Alcorcón, Madrid, España.
Unlabelled: Congenital myotonic dystrophy type 1 (DM1) is a rare entity that can pose a diagnostic challenge, especially if other processes such as prematurity coexist.
Objective: to describe the typical presentation of congenital DM1 and thus increase diagnostic suspicion.
Clinical Case: A 29-week preterm female newborn who required non-invasive mechanical ventilation until 41 weeks postmenstrual age; she presented with apnea requiring manual ventilation with a self-inflating bag and cardiac massage.
[Breathing disorders during sleep in patients with dystrophic myotonia].
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.
Coenzyme Q improves mitochondrial and muscle dysfunction caused by CUG expanded repeats in Caenorhabditis elegans.
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 PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!