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Purpose Congenital muscular dystrophy (CMD) comprises a rare group of genetic muscle diseases that present at birth or early during infancy. Two common subtypes of CMD are collagen VI-related muscular dystrophy (COL6-RD) and laminin alpha 2-related dystrophy (LAMA2-RD). Traditional outcome measures in CMD include gross motor and mobility assessments, yet significant motor declines underscore the need for valid upper extremity (UE) motor assessments as a clinical endpoint. This study validated a battery of UE measures in these two CMD subtypes for future clinical trials. Methods For this cross-sectional study, 42 participants were assessed over the same 2–5 day period at the National Institutes of Health Clinical Center (CC). All UE measures were correlated with the Motor Function Measure 32 (MFM32). The battery of UE assessments included the Jebsen Taylor Hand Function Test, Quality of Upper Extremity Skills Test (QUEST), hand held dynamometry, goniometry, and MyoSet Tools. Spearman Rho was used for correlations to the MFM32. Pearson was performed to correlate the Jebsen, QUEST, hand-held dynamometry, goniometry and the MyoSet Tools. Correlations were considered significant at the 0.01 level (2-tailed). Results Significant correlations were found between both the MFM32 and MFM Dimension 3 only (Distal Motor function) and the Jebsen, QUEST, MyoGrip and MyoPinch, elbow flexion/extension ROM and myometry. Additional correlations between the assessments are reported. Conclusions The Jebsen, the Grasp and Dissociated Movements domains of the QUEST, the MyoGrip and the MyoPinch tools, as well as elbow ROM and myometry were determined to be valid and feasible in this population, provided variation in test items, and assessed a range of difficulty in CMD. To move forward, it will be of utmost importance to determine whether these UE measures are reproducible and sensitive to change over time.

In this repeated measures case study, we show that sensory deafferentation after limb amputation leads to changes in cortical somatotopic maps which are reversible after restoration of sensory input. Using magnetoencephalography (MEG), we observed in a child with bilateral hand transplants large‐scale shifts in somatosensory lip cortical representation from anatomic hand area to anatomic face region. After recovery of tactile sensation in the digits, responses to finger stimulation were localized to orthotopic sensory cortex, but with atypical electrophysiologic features (amplitude and frequencies).

The objective of this study was to analyze, among a nationally representative sample of college students in the U.S., gender differences in the lifetime, past 12-months, and past 30-day prevalence of e-nicotine products (ENPs) use, reasons for use, and susceptibility to ENP use among never users. We analyzed data from the Population Assessment of Tobacco and Health (PATH) Study. The study population included college-aged individuals (18-24 years old) enrolled in a degree program. The results of the study revealed that males were more likely to use ENPs than females. Both males and females reported a high proportion of misconception about ENPs, particularly with regards to ENPs being less harmful to the user than cigarettes. It also indicated that 36% of male and 32% of female college students were susceptible to start using ENPs. Our results highlight the need to provide comprehensive, tobacco-prevention education among U.S. youth.

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