Blog Archives
Third year bachelor’s degree students trained in myology
Since the creation of the Institute of Myology, its members have been involved in teaching science and medicine, with over 800 hours of lectures per year. These hours include participation in more than 20 university or inter-university diplomas. However, for the first time this year, an optional unit dedicated to myology was proposed to third … [Read more]
Detailed clinical characterisation of congenital titinopathy
The authors of this study performed a comprehensive clinical characterisation of congenital titinopathy to facilitate diagnosis and management of this important emerging disorder. They used massively parallel sequencing to identify 30 patients from 27 families with two pathogenic nonsense, frameshift and/or splice site TTN mutations in trans. They then undertook a detailed analysis of the … [Read more]
Clostridium difficile cure with fecal microbiota transplantation in a child with Pompe disease
Recurrent Clostridium difficile infection is a growing problem among children due to both the increasing survival of medically fragile children with complicated chronic medical conditions resulting in prolonged antibiotic exposure and hospitalization and the emergence of strains of Clostridium difficile that are hypervirulent and associated with high rates of relapse. This case describes a medically … [Read more]
Institute seminar – June 11th – Penney M. Gilbert (Canada)
Making 3D models that matter: Engineering human skeletal muscle tissue in a dish Monday 11 June 2018 – 12:00 Penney M. Gilbert, Ph.D. (Assistant Professor, Institute for Biomaterials and Biomedical Engineering, Donnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, Ontario, CANADA) Host : Fabien Le Grand Special invitation for students and … [Read more]
Serum proteomic analysis to follow DMD and BMD disease progression
Analysis of muscle biopsies allowed to characterize the pathophysiological changes of Duchenne and Becker muscular dystrophies (D/BMD) leading to the clinical phenotype. Muscle tissue is often investigated during interventional dose finding studies to show in situ proof of concept and pharmacodynamics effect of the tested drug. Less invasive readouts are needed to objectively monitor patients’ … [Read more]
Institute seminar – June 4th – Terry Partridge (USA)
Analysis of the dynamics of muscle growth, hypertrophy and regeneration in mouse and man Monday 4 June 2018 – 12:00 Terry Partridge (Children’s National Medical Center · Center for Genetic Medicine Research, Washingthon D.C., USA) Host : Gill Butler-Browne Special invitation for students and post-docs only: Terry Partridge will take time with you, right after … [Read more]
Role of miR-708-5p and miR-34c-5p in nNOS regulation in dystrophic muscle
Duchenne (DMD) and Becker (BMD) muscular dystrophies are caused by mutations in the DMD gene coding for dystrophin, a protein being part of a large sarcolemmal protein scaffold that includes the neuronal nitric oxide synthase (nNOS). The nNOS was shown to play critical roles in a variety of muscle functions and alterations of its expression … [Read more]
Evaluation of children with SMA type 1 under treatment with nusinersen
Nusinersen acts as a splicing modifier and has recently been approved for intrathecal treatment of spinal muscular atrophy (SMA). Prior to approval, it was provided to patients with SMA type 1 in Germany within an Expanded Access Program (EAP). In contrast to previous clinical trials, children of different age groups and different stages of the … [Read more]
Safety and efficacy of the Vacora® vacuum-assisted biopsy system
Muscle sampling via percutaneous biopsy has been shown to be safe and effective using a Bergström needle; however, the use of a single-operator, self-contained, vacuum-assisted biopsy technique has not been explored. Here, the authors performed a retrospective chart review of muscle biopsy samples obtained using the Vacora® self-contained vacuum-assisted biopsy system between 2013 and 2016, … [Read more]
Taurine supplementation reduces the recurrence of stroke-like episodes in MELAS
This phase 3 clinical trial evaluated the efficacy and safety of high-dose taurine supplementation for prevention of stroke-like episodes of MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes), a rare genetic disorder caused by point mutations in the mitochondrial DNA that lead to a taurine modification defect at the first anticodon nucleotide of mitochondrial … [Read more]
