Changes in electrophysiological findings of spinal muscular atrophy type I after the administration of nusinersen and onasemnogene abeparvovec: two case reports.

BACKGROUND: Recently, there have been significant advances in the treatment of spinal muscular atrophy (SMA). Although clinical improvement in patients with SMA after the treatment has been reported, changes in electrophysiological findings, especially needle electromyography (EMG), have rarely been reported. Herein, we report the posttreatment changes in EMG and nerve conduction study findings over time in two patients with SMA type I. CASE PRESENTATION: Patient 1: A 2.5-year-old girl was diagnosed with SMA type I at 1 month of age. She received nusinersen four times and onasemnogene abeparvovec (OA) was administered at 6 months of age. The compound muscle action potential (CMAP) amplitudes of the median and tibial nerves increased over time. The needle EMG after the treatment showed high-amplitude motor unit potentials (MUPs) suggestive of reinnervation during voluntary contraction, which were not seen before the treatment. However, fibrillation potentials at rest were still seen after the treatment. Patient 2: A 2-year-old girl was diagnosed with SMA type I at 6 months of age. She had received nusinersen two times and OA was administered at 7 months of age. The CMAP amplitudes and the MUPs presented similar changes as presented in Case 1. CONCLUSION: This is the first report on the changes in needle EMG findings after treatment in patients with SMA type I. These findings suggested that peripheral nerve reinnervation occurred after the treatment, although active denervation was still present. The accumulation of these findings will be important for evaluating the effectiveness of treatment for SMA in the future.

Factors associated with sleep duration among pupils.

BACKGROUND: Sleep shortage has been pervasive among pupils. METHODS: Multiple regression analysis was used to analyze 2,722 questionnaires obtained from grade 5 to 12 pupils, to determine factors associated with sleep duration. RESULTS: Significant regression formulae for sleep duration were obtained for all school types: adjusted R2 / P value were 0.14/<0.001 for elementary school; 0.11/<0.001 for junior high school; 0.06/<0.001 for high school. Longer after-school activities (standardized regression coefficient/ P value were -0.22/<0.001 for elementary school; -0.10/<0.01 for junior high school; -0.18/<0.001 for high school) and more sleepiness (-0.09/<0.001 for elementary school; -0.07/<0.05 for junior high school; -0.07/<0.05 for high school) were significantly associated with reduced sleep duration for all school types. In both elementary and junior high schools, the higher grade (-0.53/<0.001 for elementary school; -0.10/<0.01 for junior high school), and longer weekday screen time (-0.15/<0.001 for elementary school; -0.19/<0.001 for junior high school) were also significantly associated with sleep loss. In elementary school, irregular dinner (-0.07/<0.05), breakfast skipping (-0.11/<0.001), longer weekend screen time (-0.09/<0.05) and better self-reported academic performance (0.07/<0.05) also revealed significant associations with sleep loss. In high school, reduction of sleep duration was also significantly associated with higher standardized body mass index (-0.08/<0.05). CONCLUSIONS: Excessive after-school activity might be considered in association with pupils' sleep reduction.

Successful Surgical and Endovascular Multidisciplinary Therapy for Mid-aortic Syndrome with Complicated Atherosclerotic Comorbidities in an Older Patient.

Mid-aortic syndrome (MAS) is a rare vascular disorder that causes refractory hypertension. A 76-year-old woman was hospitalized for acute heart failure (HF) with drug-resistant hypertension; other comorbidities included epigastric artery rupture, old myocardial infarction, an intraventricular thrombus, and a cerebral artery aneurysm. Angiography revealed severe narrowing of the descending aorta, which led to the diagnosis of MAS. Although intensive medical treatment improved her HF, optimal blood pressure (BP) could not be achieved. Percutaneous coronary intervention and surgical bypass for diseased aorta was then performed in two stages, resulting in the achievement of optimal BP and alleviation of HF.