Blog Archives

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]

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]

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]

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]

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]

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]

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]

In early-onset Myasthenia Gravis (MG) with anti-acetylcholine receptor antibodies, thymic abnormalities associated with ectopic germinal centers are frequent. miRNAs by acting as post-transcriptional regulators are involved in autoimmunity. To investigate the implication of miRNAs in thymic changes associated with early-onset MG, the authors performed a miRnome study and data were analyzed with different approaches. miRNAs … [Read more]