Treating Pediatric Neuromuscular Disorders: The future is now

Pediatric neuromuscular diseases encompass all disorders with onset in childhood and where the primary area of pathology is in the peripheral nervous system. These conditions are largely genetic in etiology, and only those with a genetic underpinning will be presented in this review. This includes disorders of the anterior horn cell (e.g., spinal muscular atrophy), peripheral nerve (e.g., Charcot-Marie-Tooth disease), the neuromuscular junction (e.g., congenital myasthenic syndrome), and the muscle (myopathies and muscular dystrophies). Historically, pediatric neuromuscular disorders have uniformly been considered to be without treatment possibilities and to have dire prognoses. This perception has gradually changed, starting in part with the discovery and widespread application of corticosteroids for Duchenne muscular dystrophy. At present, several exciting therapeutic avenues are under investigation for a range of conditions, offering the potential for significant improvements in patient morbidities and mortality and, in some cases, curative intervention. In this review, we will present the current state of treatment for the most common pediatric neuromuscular conditions, and detail the treatment strategies with the greatest potential for helping with these devastating diseases

Steam reforming of methanol over Cu/ZnO/Al₂O₃ modified with hydrotalcites

Dilution of a commercial Cu/ZnO/Al2O3 (CZA) catalyst by well-crystallized MgAl hydrotalcite nitrate (HTNO3) and chloride (HTCl) resulted in the formation of the modified samples CZA–HTN and CZA–HTCl, respectively. The samples were characterized by N2 sorption and XRD measurements. The structures of the CZA–HT materials proved to be more compact than those of the pristine clays. The modified samples were investigated as catalysts for the steam reforming of methanol under steady state conditions. The catalytic activity and the long-term stability of CZA–HT were found to depend strongly on the nature of the interlamellar anion of HT. CZA–HTN exhibited a marked catalytic activity and an enhanced thermal stability. It was pointed out that dilution with HTNO3 improved the catalytic performance of CZA by increasing the methanol conversion and decreasing the CO production. The moderate increase in the methanol conversion for CZA–HTN during time-on-stream was attributed to partial delamination of the HT structure under SRM conditions. The application of an enhanced H2O:MeOH ratio of 1.3 for CZA–HTN was found to decrease both the methanol conversion and the CO formation to an appreciable extent

A Novel Mutation in FGD4/FRABIN Causes Charcot Marie Tooth Disease Type 4H in Patients from a Consanguineous Tunisian Family

International audienc