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Total 46 results found since Jan 2013.

Generation of CHOPe003-A ESC line to study an ACTG2 variant affecting smooth muscle development and function
Stem Cell Res. 2023 Aug 22;71:103186. doi: 10.1016/j.scr.2023.103186. Online ahead of print.ABSTRACTDysfunction of visceral smooth muscle ("visceral myopathy") impairs bowel, bladder, and uterine function. Symptoms of this life-threatening condition include massive intestinal distension with slow transit, vomiting, feeding intolerance, growth failure, poor bladder emptying, and difficult vaginal delivery. The most common genetic cause of visceral myopathy is a heterozygous point mutation (R257C) in gamma smooth muscle actin (ACTG2). We genetically modified the WAe0009-A human embryonic stem cell line to carry the c.769C>...
Source: Cell Research - August 29, 2023 Category: Cytology Authors: Sohaib K Hashmi Sabine Schneider Alyssa L Gagne Jean Ann Maguire Sierra Anderson Paul Gadue Robert O Heuckeroth Deborah L French Source Type: research

Statins and immune-mediated necrotizing myopathy: Variability in the risk
CONCLUSION: Atorvastatin presents the highest risk of IMNM. Our data suggest that the occurrence of IMNM is a class effect.PMID:37625939 | DOI:10.1016/j.therap.2023.07.005
Source: Therapie - August 25, 2023 Category: Psychiatry & Psychology Authors: Thierry Trenque Jed Hadjoudj Agathe Trenque Federica Tralongo Salom é Martin Brahim Azzouz Source Type: research

Generation of CHOPi012-A iPSC line from a patient with visceral myopathy-related chronic intestinal pseudo-obstruction
Stem Cell Res. 2023 Aug 1;71:103176. doi: 10.1016/j.scr.2023.103176. Online ahead of print.ABSTRACTVisceral myopathies are debilitating conditions characterized by dysfunction of smooth muscle in visceral organs (bowel, bladder, and uterus). Individuals affected by visceral myopathy experience feeding difficulties, growth failure, life-threatening abdominal distension, and may depend on intravenous nutrition for survival. Unfortunately, our limited understanding of the pathophysiology of visceral myopathies means that current therapies remain supportive, with no mechanism-based treatments. We developed a patient-derived iP...
Source: Cell Research - August 12, 2023 Category: Cytology Authors: Sohaib K Hashmi Sabine Schneider Alyssa L Gagne Jean Ann Maguire Paul Gadue Robert O Heuckeroth Deborah L French Source Type: research

Extracorporeal life support allows lung transplant in anti-MDA5+ rapidly progressive-interstitial lung disease.
Conclusions: The results provide crucial information for the management of anti-MDA5 RP-ILD. The bridge-to-recovery strategy in anti-MDA5 RP-ILD patients requiring ECLS despite specific prior treatment leads to undesirable results. In contrast, a bridge-to-emergency lung transplantation is not only feasible but also associated with a favorable outcome and appears therefore as the sole hope of survival.
Source: European Respiratory Journal - December 1, 2022 Category: Respiratory Medicine Authors: Bay, P., Pineton De Chambrun, M., Roux, A., Bunel, V., Combes, A., Israël Biet, D., Zuber, B., Nunes, H., Allenbach, Y., Uzunhan, Y. Tags: 02.01 - Acute critical care Source Type: research

First Family of MATR3-Related Distal Myopathy From Italy: The Role of Muscle Biopsy in the Diagnosis and Characterization of a Still Poorly Understood Disease
Mutations in the MATR3 gene are associated to distal myopathy with vocal cord and pharyngeal weakness (VCPDM), as well as familiar and sporadic motor neuron disease. To date, 12 VCPDM families from the United States, Germany, Japan, Bulgary, and France have been described in the literature. Here we report an Italian family with a propositus of a 40-year-old woman presenting progressive bilateral foot drop, rhinolalia, and distal muscular atrophy, without clinical signs of motor neuron affection. Her father, deceased some years before, presented a similar distal myopathy phenotype, while her 20-year-old son is asymptomatic....
Source: Frontiers in Neurology - October 1, 2021 Category: Neurology Source Type: research

Short- and long-term prognosis of acute critically ill patients with systemic rheumatic diseases: A retrospective multicentre study
Patients with systemic rheumatic disease (SRD) share the risks of multi-organ flare-up, cardiovascular diseases, and immunosuppression. Such situations can lead to an acute critical illness. The present study describes the clinical features of SRD patients admitted to the intensive care unit (ICU) and their short- and long- term mortality. We performed a multicentre retrospective study in 10 French ICU in Lyon, France. Inclusion criteria were SRD diagnosis and admission for an acute organ failure. The primary endpoint was ICU mortality. A total of 271 patients were included. SRD included systemic lupus erythematosus ...
Source: Medicine - September 3, 2021 Category: Internal Medicine Tags: Research Article: Observational Study Source Type: research

Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions
AbstractUsing deep phenotyping and high-throughput sequencing, we have identified a novel type of distal myopathy caused by mutations in the Small muscle protein X-linked (SMPX) gene. Four different missense mutations were identified in ten patients from nine families in five different countries, suggesting that this disease could be prevalent in other populations as well. Haplotype analysis of patients with similar ancestry revealed two different founder mutations in Southern Europe and France, indicating that the prevalence in these populations may be higher. In our study all patients presented with highly similar clin...
Source: Acta Neuropathologica - August 1, 2021 Category: Neurology Source Type: research

Missense mutations in small muscle protein X-linked ( SMPX ) cause distal myopathy with protein inclusions
AbstractUsing deep phenotyping and high-throughput sequencing, we have identified a novel type of distal myopathy caused by mutations in the Small muscle protein X-linked (SMPX) gene. Four different missense mutations were identified in ten patients from nine families in five different countries, suggesting that this disease could be prevalent in other populations as well. Haplotype analysis of patients with similar ancestry revealed two different founder mutations in Southern Europe and France, indicating that the prevalence in these populations may be higher. In our study all patients presented with highly similar clin...
Source: Acta Neuropathologica - May 11, 2021 Category: Neurology Source Type: research

Limb girdle muscular dystrophies
Dysferlinopathies represent several pathologies caused by mutations in the DYSF gene. The two main phenotypes are Limb-girdle muscular dystrophy (LGMD) type 2B and distal Miyoshi's myopathy, but a proximodistal phenotype accounts for 6-35% of dysferlinopathies. The Acadians were French colonists who settled in the Canadian Maritimes and incurred the Great Deportation. Those who eluded capture remained mostly along the Maritime coastlines, preluding a higher regional prevalence of some recessive diseases.
Source: Neuromuscular Disorders - September 28, 2020 Category: Neurology Authors: S. Bourque, D. Bourcier, J. Mamelona, J. Urtizberea, B. Brais, N. Crapoulet, A. Marrero Source Type: research

Extension of the phenotypic spectrum of GLE1 ‐related disorders to a mild congenital form resembling congenital myopathy
ConclusionsWe here report the mildest phenotype ever described, in two siblings carrying the homozygous c.1808G>TGLE1 variant, further widening the clinical spectrum ofGLE1‐related diseases. Moreover, by reflecting current medical practice, this case report confirms the importance of establishing regular multidisciplinary meetings, essential for discussing such difficult clinical presentations to finally enable molecular diagnosis, especially when NGS technologies a re used.
Source: Molecular Genetics & Genomic Medicine - June 13, 2020 Category: Genetics & Stem Cells Authors: Mathieu Cerino, Chlo é Di Meglio, Francesca Albertini, Frédérique Audic, Florence Riccardi, Christophe Boulay, Nicole Philip, Marc Bartoli, Nicolas Lévy, Martin Krahn, Brigitte Chabrol Tags: CLINICAL REPORT Source Type: research

Sarcoidosis and the Nervous System
This article provides an overview and update on the neurologic manifestations of sarcoidosis. RECENT FINDINGS The 2018 Neurosarcoidosis Consortium diagnostic criteria emphasize that biopsy is key for diagnosis and determines the level of diagnostic certainty. Thus, definite neurosarcoidosis requires nervous system biopsy and probable neurosarcoidosis requires biopsy from extraneural tissue. Without biopsy, possible neurosarcoidosis can be diagnosed if the clinical, imaging, and laboratory picture is compatible and other causes are ruled out. Recent large retrospective studies from the United States and France establishe...
Source: CONTINUUM: Lifelong Learning in Neurology - June 1, 2020 Category: Neurology Tags: REVIEW ARTICLES Source Type: research

1st Sitting Workshop for neuromuscular disorders Denmark, 30 September - 1 October 2019
From 30th September to 1st October 2019 a workshop was organized on sitting for persons with neuromuscular disorders, specifically focusing on Duchenne muscular dystrophy (DMD), Spinal muscular atrophy (SMA), congenital muscular dystrophy (CMD) and myopathy (CM), in Musholm Ferie-Sport-Konference in Kors ør, Denmark. Recruitment for occupational therapists was done in Western European countries; participating countries were Denmark, Norway, Sweden, Belgium, France and the Netherlands. A pre-workshop questionnaire was sent around concerning the use of standard evaluating methods and possible interve ntions.
Source: Neuromuscular Disorders - May 6, 2020 Category: Neurology Authors: Imelda JM de Groot, Ulla Werlauff, Working group Sitting in NMDs Tags: Workshop report Source Type: research

1st Sitting Workshop for Neuromuscular disorders. Denmark 30 September – 1 October 2019
From 30th September till 1st October 2019 a workshop was organized on sitting of persons with neuromuscular disorders, specifically focusing on Duchenne muscular dystrophy (DMD), Spinal muscular atrophy (SMA), congenital muscular dystrophy (CMD) and myopathy (CM), in Musholm Ferie-Sport- Konference in Kors ør, Denmark. Recruitment for occupational therapists was done in western European countries, participating countries were Denmark, Norway, Sweden, Belgium, France and the Netherlands. A pre-workshop questionnaire was send around concerning the use of standard evaluating methods and possible interve ntions.
Source: Neuromuscular Disorders - May 6, 2020 Category: Neurology Authors: Imelda JM de Groot, Ulla Werlauff, Working group sitting in NMD Tags: Workshop report Source Type: research