Blog Archives
Bruno Cadot awarded the “Elsevier Big Prize” at the WMS Congress
Bruno Cadot* received the “Elsevier Big Prize” at the WMS Congress (2-6 October 2018 in Mendoza, Argentina) for his oral presentation on nucleus-cytoskeleton interactions and nuclear positioning during muscle development. For which projects did you receive this award? At this congress, I presented the last ten years of research that I have accomplished at the … [Read more]
Molecular diagnosis of inherited peripheral neuropathies using targeted NGS
Inherited peripheral neuropathies (IPN) represent a large heterogenous group of hereditary diseases with more than 100 causative genes reported to date. In this context, targeted next-generation sequencing (NGS) offers the opportunity to screen all these genes with high efficiency in order to unravel the genetic basis of the disease. Here, the authors compared the diagnostic … [Read more]
Effects of interventions for preventing or treating cardiac complications in dystrophinopathies
The dystrophinopathies include Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and X-linked dilated cardiomyopathy (XLDCM). In recent years, co-ordinated multidisciplinary management for these diseases has improved the quality of care, with early corticosteroid use prolonging independent ambulation, and the routine use of non-invasive ventilation significantly increasing survival. The next target to improve outcomes is … [Read more]
Long-term glucocorticoid treatment slows pulmonary disease progression in DMD
This study describes longitudinal changes in pulmonary function measures in Duchenne muscular dystrophy (DMD) patients treated with glucocorticoids (GCs) > 1 year compared to GC naïve patients in the Cooperative International Research Group Duchenne Natural History Study, a multicenter prospective cohort study. Over a period up to 10 years 397 participants underwent 2799 pulmonary function assessments: 53 … [Read more]
Efficacy of methylphenidate in DMD patients with comorbid ADHD
Attention-deficit hyperactivity disorder (ADHD) is a common comorbidity in Duchenne muscular dystrophy (DMD). Until now, treatment with methylphenidate (MPH) has never been systematically assessed and described in this population. Here, the authors aimed was to evaluate the effectiveness and safety of short acting MPH for learning problems in males with DMD and ADHD. Neuropsychological (cognition … [Read more]
Institute seminar – November 26th – Markus A. Ruegg, Ph.D. (Switzerland)
Molecular mechanisms of muscle maintenance in aging and disease Monday 26 November 2018 – 12:00-13:00 Markus A. Ruegg, Ph.D. (Professor of Neurobiology, Biozentrum, University of Basel, Switzerland) Host : Laure Strochlic Institute of Myology auditorium Hôpital de la Pitié-Salpêtrière Building Babinski Entrance 82 bd Vincent Auriol metro Chevaleret
Institute seminar – November 19th – Jonathan Enriquez (France)
Motoneurons and neuropil glia: Common origins yet divergent modes of development Monday 19 November 2018 – 12:00-13:00 Jonathan Enriquez, Ph.D. (Institut de Génomique Fonctionnelle de Lyon (IGFL) ENS de Lyon – CNRS UMR 5242 – Lyon, France) Host : Valérie Allamand Institute of Myology auditorium Hôpital de la Pitié-Salpêtrière Building Babinski Entrance 82 bd Vincent … [Read more]
Nusinersen use in SMA
The objective of this report was to identify the level of evidence for use of nusinersen to treat spinal muscular atrophy (SMA) and review clinical considerations regarding use. The author panel systematically reviewed nusinersen clinical trials for patients with SMA and assigned level of evidence statements based on the American Academy of Neurology’s 2017 therapeutic … [Read more]
MYL1 deficiency is associated with a severe congenital myopathy
Congenital myopathies are typically characterised by early onset hypotonia, weakness and hallmark features on biopsy. Despite the rapid pace of gene discovery, approximately 50% of patients with a congenital myopathy remain without a genetic diagnosis following screening of known disease genes. Here, the authors performed exome sequencing on two consanguineous probands diagnosed with a congenital … [Read more]
Altered fecal microbiota pattern in MG patients
The intestinal microbiota plays a key role in the maintenance of human health. Alterations in this microbiota have been described in several autoimmune diseases, including nervous system diseases. Nevertheless, the information regarding neuromuscular conditions is still limited. In this study, the authors aimed to characterize the intestinal microbiota composition in myasthenia gravis (MG) patients. To … [Read more]
