Results 31 to 40 of about 12,338 (187)

Pulmonary thromboembolism in a patient with myotonic dystrophy type 1

Annals of Indian Academy of Neurology, 2012
Thromboembolism is a rare complication in patients with myotonic dystrophy. While immobilization of patients with advanced disease predisposes to high risk for venous thromboembolism, hypercoagulability could account for venous thromboembolism in ...
Joong-Yang Cho, So-Young Seo, Yong-Jin Cho, Keun-Sik Hong, Hee Kyung Park, Ju Hyun Lee, Sung-Soon Lee   +6 more
doaj   +1 more source

Anesthetic management for a patient with myotonic dystrophy with remimazolam

JA Clinical Reports, 2021
Background Patients with myotonic dystrophy may have increased sensitivity to drugs used for anesthesia. We successfully managed general anesthesia in a patient with myotonic dystrophy using a novel intravenous anesthetic, remimazolam.
Yasuhiro Morimoto, Aya Yoshimatsu, Manabu Yoshimura   +2 more
doaj   +1 more source

Cytoskeleton–Membrane Uncoupling in Duchenne Muscular Dystrophy: Implications for Newborn Screening and Early Protection

Cytoskeleton, EarlyView.
ABSTRACT The cytoskeleton of striated muscle integrates force transmission, mechanotransduction, and sarcolemmal stability through coordinated networks of sarcomeres, costameres, and intermediate filaments. Together, these systems establish mechanical continuity between the contractile apparatus, the sarcolemma, and the extracellular matrix.
Houda Cohen, Nora Hosny, Brian R. Thompson, Joseph M. Metzger   +3 more
wiley   +1 more source

DNA Repair Pathway Variants Are Enriched in Individuals with Biallelic AAGGG CANVAS and RFC1‐Related Disease

Movement Disorders, EarlyView.
Abstract Background Cerebellar ataxia, neuropathy and vestibular are flexia syndrome (CANVAS) and RFC1‐related disease are most commonly caused by biallelic AAGGG repeat expansions in RFC1. The high population frequency of this expansion compared to the frequency of CANVAS suggests incomplete penetrance.
Xuemin Wang, Liam G. Fearnley, Kayli C. Davies, Penny Snell, Stuart Lee, Victoria E. Jackson, Justin Read, Michael Milton, Ian H. Harding, Martin B. Delatycki, David J. Szmulewicz, Paul J. Lockhart, Melanie Bahlo, Haloom Rafehi   +13 more
wiley   +1 more source

Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease

Orphanet Journal of Rare Diseases, 2018
Background Myotonic Dystrophy is the most common form of muscular dystrophy in adults, affecting an estimated 10 per 100,000 people. It is a multisystemic disorder affecting multiple generations with increasing severity.
Libby Wood, Guillaume Bassez, Corinne Bleyenheuft, Craig Campbell, Louise Cossette, Aura Cecilia Jimenez-Moreno, Yi Dai, Hugh Dawkins, Jorge Alberto Diaz Manera, Celine Dogan, Rasha el Sherif, Barbara Fossati, Caroline Graham, James Hilbert, Kristinia Kastreva, En Kimura, Lawrence Korngut, Anna Kostera-Pruszczyk, Christopher Lindberg, Bjorn Lindvall, Elizabeth Luebbe, Anna Lusakowska, Radim Mazanec, Giovani Meola, Liannna Orlando, Masanori P. Takahashi, Stojan Peric, Jack Puymirat, Vidosava Rakocevic-Stojanovic, Miriam Rodrigues, Richard Roxburgh, Benedikt Schoser, Sonia Segovia, Andriy Shatillo, Simone Thiele, Ivailo Tournev, Baziel van Engelen, Stanislav Vohanka, Hanns Lochmüller   +38 more
doaj   +1 more source

Generation of induced pluripotent stem cell lines from pediatric patients with congenital myotonic dystrophy (CBRCULi012-A and CBRCULi013-A) and Age-Matched controls (CBRCULi010-A and CBRCULi011-A)

Stem Cell Research, 2023
Congenital myotonic dystrophy (CDM) is an autosomal dominant multisystemic disorder attributed to a large expansion of CTG trinucleotide repeats within the myotonic dystrophy protein kinase (DMPK) gene.
Thiéry De Serres-Bérard, Dominic Jauvin, Jack Puymirat, Mohamed Chahine   +3 more
doaj   +1 more source

Navigating the Complexity: A Comprehensive Review of GSK‐3 Inhibition in Regenerative Medicine

Medicinal Research Reviews, EarlyView.
ABSTRACT Glycogen synthase kinase‐3 (GSK‐3) is a central regulator of numerous cellular signaling pathways, with critical roles in metabolism, proliferation, differentiation, and tissue regeneration. This review explores the multifaceted effects of pharmacological GSK‐3 inhibition across multiple body districts, focusing on its highly context‐dependent
Davide Schiroli, Alessia Merra, Chiara Marraccini, Lucia Merolle, Graziella Pellegrini, Eleonora Maurizi   +5 more
wiley   +1 more source

Steinert's syndrome presenting as anal incontinence: a case report

Journal of Medical Case Reports, 2011
Introduction Myotonic dystrophy (MD) or Steinert's syndrome is a rare cause of chronic diarrhea and anal incontinence. In the presence of chronic diarrhea and fecal incontinence with muscle weakness, neuromuscular disorders such as myotonic dystrophy ...
Uzum Ayse, Toros Ahmet, Erdenen Fusun, Sacak Sirin   +3 more
doaj   +1 more source

A Cell-Based Double Reporter Gene Splicing Assay for Therapeutic Screening in Myotonic Dystrophy

The EuroBiotech Journal, 2023
The study has developed a model splicing construct assay system based on splicing misregulation, one of the major molecular features associated with myotonic dystrophy.
Udosen Inyang U., Granados Javier T., Brook John David   +2 more
doaj   +1 more source

Validation of the FVB/N-Tg(HSA* LR)20bCath mice of myotonic dystrophy using swallowing function assessment, histology, and immunofluorescence analysis.

PLoS ONE
Myotonic dystrophy is associated with dysphagia, which can lead to severe complications such as aspiration pneumonia and choking. However, few histopathological studies on dysphagia in myotonic dystrophy have been conducted.
Rie Asayama, Kaori Tanaka-Nishikubo, Jun Iwanami, Takahiro Fukazawa, Motoi Kanagawa, Naohito Hato   +5 more
doaj   +1 more source