Purpose To evaluate the safety and efficacy of N-acetylmannosamine (ManNAc) in GNE myopathy, a genetic muscle disease caused by deficiency of the rate-limiting enzyme in N-acetylneuraminic acid (Neu5Ac) biosynthesis. Methods We conducted an open-label, phase 2, single-center (NIH, USA) study to evaluate oral ManNAc in 12 patients with GNE myopathy (ClinicalTrials.gov NCT02346461). Primary endpoints were safety and biochemical efficacy as determined by change in plasma Neu5Ac and sarcolemmal sialylation. Clinical efficacy was evaluated using secondary outcome measures as part of study extensions, and a disease progression model (GNE-DPM) was tested as an efficacy analysis method. Results Most drug-related adverse events were gastrointestinal, and there were no serious adverse events. Increased plasma Neu5Ac (+2,159 nmol/L, p < 0.0001) and sarcolemmal sialylation (p = 0.0090) were observed at day 90 compared to baseline. A slower rate of decline was observed for upper extremity strength (p = 0.0139), lower extremity strength (p = 0.0006), and the Adult Myopathy Assessment Tool (p = 0.0453), compared to natural history. Decreased disease progression was estimated at 12 (γ = 0.61 [95% CI: 0.09, 1.27]) and 18 months (γ = 0.55 [95% CI: 0.12, 1.02]) using the GNE-DPM. Conclusion ManNAc showed long-term safety, biochemical efficacy consistent with the intended mechanism of action, and preliminary evidence clinical efficacy in patients with GNE myopathy.

. Purpose: The recent coronavirus disease 2019 (COVID-19) pandemic, which spread across the globe in a very short period of time, revealed that the transmission control of disease is a crucial step to prevent an outbreak and effective screening for viral infectious diseases is necessary. Since the severe acute respiratory syndrome (SARS) outbreak in 2003, infrared thermography (IRT) has been considered a gold standard method for screening febrile individuals at the time of pandemics. The objective of this review is to evaluate the efficacy of IRT for screening infectious diseases with specific applications to COVID-19. Approach: A literature review was performed in Google Scholar, PubMed, and ScienceDirect to search for studies evaluating IRT screening from 2002 to present using relevant keywords. Additional literature searches were done to evaluate IRT in comparison to traditional core body temperature measurements and assess the benefits of measuring additional vital signs for infectious disease screening. Results: Studies have reported on the unreliability of IRT due to poor sensitivity and specificity in detecting true core body temperature and its inability to identify asymptomatic carriers. Airport mass screening using IRT was conducted during occurrences of SARS, Dengue, Swine Flu, and Ebola with reported sensitivities as low as zero. Other studies reported that screening other vital signs such as heart and respiratory rates can lead to more robust methods for early infection detection. Conclusions: Studies evaluating IRT showed varied results in its efficacy for screening infectious diseases. This suggests the need to assess additional physiological parameters to increase the sensitivity and specificity of non-invasive biosensors.

Context/objective: A 41-year-old man with a history of C6 American Spinal Injury Association (ASIA) Impairment Scale (AIS) C spinal cord injury (SCI), enrolled in an Institutional Review Board (IRB)-approved, robotic-assisted body weight-supported treadmill training (BWSTT), and aquatic exercise research protocol developed asymptomatic autonomic dysreflexia (AD) during training. Little information is available regarding the relationship of robotic-assisted BWSTT and AD. Findings: After successfully completing 36 sessions of aquatic exercise, he reported exertional fatigue during his 10th Lokomat intervention and exhibited asymptomatic or silent AD during this and the three subsequent BWSTT sessions. Standard facilitators of AD were assessed and no obvious irritant identified other than the actual physical exertion and positioning required during robotic-assisted BWSTT. Conclusions/clinical relevance: Increased awareness of potential silent AD presenting during robotic assisted BWSTT training for individuals with motor incomplete SCI is required as in this case AD clinical signs were not concurrent with occurrence. Frequent vital sign assessment before, during, and at conclusion of each BWSTT session is strongly recommended.