AANEM News Express Related to Science News

AANEM News Express

Randomized Trial of Thymectomy in Myasthenia Gravis

This study in the New England Journal of Medicine demonstrates a clear clinical benefit of thymectomy in patients with non-thymomatous myasthenia gravis

Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs

This study in Neuron identified gain of toxicity as a main pathogenesis of GGGGCC-expanded C9ORF72 for ALS/FTD, and also proved the feasibility and effectiveness of antisense oligonucleotides-mediated therapy. 

Idebenone Reduces Respiratory Complications In Patients with Duchenne Muscular Dystrophy

This study in Neuromuscular Disorders reports the effects of Idebenone in patients with Duchenne Muscular Dystrophy.

Science News: Identifying who will benefit from NIV in ALS

This retrospective study in the Journal of Neurology, Neurosurgery & Psychiatry bolsters the evidence to support non-invasive ventilation (NIV) prescription in patients with ALS.

Modulating Myosin Restores Muscle Function in a Mouse Model of Nemaline Myopathy

This study in the Annals of Neurology demonstrated increased myofiber size and force generation in myocytes of ACTA1 transgenic mice injected with the gene encoding the MyLC1a/emb isoform.

Dystrophinopathy Diagnosis: Skin Biopsy, an Emerging Novel Tool

In this study, 119 patients (111 boys and 8 girls) with suspected muscular dystrophy underwent both a skin biopsy (from the anterior thigh) and a gold standard confirmatory test. 

Backward Walking Therapy for Diabetic Peripheral Neuropathy

Diabetic peripheral neuropathy is a common and costly condition, often leading to significant morbidity, including pain and foot ulcerations. A new study investigates the use of backward walking therapy as a treatment tool for patients with diabetic peripheral neuropathy.

Early Investigation of Novel ALS Treatment

A new learning phase study investigates a novel potential treatment for amyotrophic lateral sclerosis (ALS), the antibody Ozanezumab. It appears to be reasonably safe and worth proceeding with additional study.

Clinical Interpretation and Implications of Whole-Genome Sequencing

This JAMA article raises several key concerns about the NM physician’s ability to support the costs and effort required for whole-genome sequencing.

Is IVIg Therapy Warranted in Progressive Lower Motor Neuron Syndromes Without Conduction Block?

Study reports results of treatment of 31 consecutive patients with focal-onset lower motor neuron pattern limb weakness with intravenous immunoglobulin (IVIg). None of the patients had EDX signs of a generalized motor neuron disorder or evidence of conduction block.