Blog Archives
Timing and localization of human dystrophin isoform expression provide insights into the cognitive phenotype of Duchenne muscular dystrophy
Duchenne muscular dystrophy (DMD) is a muscular dystrophy with high incidence of learning and behavioural problems and is associated with neurodevelopmental disorders. To gain more insights into the role of dystrophin in this cognitive phenotype, the authors performed a comprehensive analysis of the expression patterns of dystrophin isoforms across human brain development, using unique … [Read more]
Centronuclear myopathy linked to the RYR1 gene: an emerging form of congenital myopathy
Congenital myopathies are a very heterogeneous group of neuromuscular diseases. Despite the early onset of symptoms and stable course that they have in common, their clinical expression is highly variable. The number of genes involved (whether dominant or recessive) continues to increase. The nosological frameworks of this vast set of pathologies were based on the … [Read more]
Progression of Duchenne cardiomyopathy presenting with chest pain and troponin elevation
Improved neuromuscular and respiratory therapies have altered the natural history of Duchenne muscular dystrophy (DMD) such that the most common cause of mortality is progressive cardiomyopathy. Despite imaging evidence of progressive cardiomyopathy, troponin I (cTn) is not significantly elevated in asymptomatic DMD patients. This study describes eight boys with DMD evaluated for acute chest … [Read more]
Corticosteroids in DMD: impact of the motor function measure
This observational, multicentre cohort study explores the evolution of the motor function measure (MFM) over a 24-month period for 29 ambulant corticosteroids-treated and 45 ambulant untreated patients with DMD. Significant differences were found between mean MFM scores in corticosteroids-treated and untreated groups for domain 1 of the MFM (standing position and transfers; D1), domain … [Read more]
Institute seminar – November 13th, 12:00 – Kathrin Meyer (USA)
In vitro modeling and gene therapy for neurodegenerative disorders Monday November, 13th 2017 – 12:00 Kathrin Meyer, PhD, Research Assistant Professor (Research Institute Nationwide Children’s Hospital, Ohio State University, Columbus, OH, USA) Host : France Pietri Institute of Myology auditorium Hôpital de la Pitié-Salpêtrière Building Babinski Entrance 82 bd Vincent Auriol metro Chevaleret
Institute seminar – November 13th, 10:30 – Nicolas Wein (USA)
Making sense of nonsense: Moving toward an unusual therapeutic strategy for DMD Monday November, 13th 2017 – 10:30 Nicolas Wein, PhD, Research Assistant Professor (Center for Gene Therapy Nationwide Children’s Hospital WA 3106, 700 Children’s Dr 43205 Columbus, OH, USA) Host : France Pietri Institute of Myology auditorium Hôpital de la Pitié-Salpêtrière Building Babinski Entrance 82 … [Read more]
Rapid targeted genomics in the neonatal and pediatric intensive care setting
Rapid diagnostic whole-genome sequencing has been explored in critically ill newborns, hoping to improve their clinical care and replace time-consuming and/or invasive diagnostic testing. A previous retrospective study in a research setting showed promising results with diagnoses in 57%, but patients were highly selected for known and likely Mendelian disorders. The aim of this … [Read more]
Institute seminar – November 17th – Erin Englund, PhD (USA)
Quantitative MRI for assessment of skeletal muscle perfusion, peripheral vascular dynamics, and muscle oxygen consumption Friday November, 17th 2017 – 16:30 – 17:30 Erin Englund, PhD (Laboratory for Structural, Physiologic and Functional Imaging (LSPFI), Perelman School of Medicine, University of Pennsylvania, Philadelphia, USA) Host: Pierre Carlier Institute of Myology auditorium Hôpital de la Pitié-Salpêtrière Building … [Read more]
Once again, 1000 researchers in schools!
From November 6th to December 1st, scientific experts, supported by the AFM-Téléthon, will meet students in high schools and colleges in France and abroad, as part of operation “1000 researchers in schools”, in partnership with the Biology and Geology Teachers’ Association (APBG). At the initiative of the AFM-Téléthon, the 5th edition of the “1000 researchers … [Read more]
Focal myositis: An unknown disease
Focal myositis are inflammatory muscle diseases of unknown origin. Contrary to the other idiopathic inflammatory myopathies, they are restricted to a single muscle or a muscle group. They are not associated with extramuscular manifestations, and they have a good prognosis in the absence of treatment. They are characterized by localized swelling affecting mostly lower … [Read more]
