Clinical and neurophysiological characterization of early neuromuscular involvement in children and adolescents with nephropathic cystinosis.

BACKGROUND: Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disorder characterized by kidney and extra-renal complications due to the accumulation of cystine crystals in various tissues and organs. Herein, we describe the early neuromuscular complications in a cohort of pediatric nephropathic cystinosis patients. METHODS: We prospectively evaluated the clinical, biochemical, and neurophysiological data of 15 cystinosis patients. Neurophysiological evaluation was performed to confirm or exclude presence of neuropathy and/or myopathy. RESULTS: Patients' age ranged between 20 and 216 months at time of examination. Nine patients were males. Three patients had early abnormal neurophysiological features consistent with neuromuscular involvement (clinically asymptomatic proximal myopathy with a patchy distribution in one patient and isolated asymptomatic sensory nerve conduction changes in two patients). A fourth patient had mixed abnormal motor and sensory axonal neuropathic changes associated with overt clinical features (predominantly motor symptoms). Patients with abnormal neuromuscular features were significantly older in age than the unaffected group (P = 0.005) and had a diagnosis of cystinosis with subsequent cysteamine therapy at a significantly older age than the unaffected group (P = 0.027 and 0.001, respectively). CONCLUSIONS: We expanded the recognized phenotypes of cystinosis neuromuscular complications with early proximal skeletal myopathy and symptomatic motor and sensory axonal neuropathy. Early asymptomatic neuromuscular complications could develop in pediatric patients and would require neurophysiological studies for early detection prior to development of overt clinical manifestations. Prompt diagnosis and timely initiation of cysteamine therapy with recommended dose can delay the development of neuromuscular complications. A higher resolution version of the Graphical abstract is available as Supplementary information.

COVID-19 Risk Perception and Adherence to Preventive Measures among Medical Students after Receiving COVID-19 Vaccination: A Multicenter Cross-Sectional Study in Egypt.

This study aimed to assess the perception of COVID-19 risk and the adherence to protective measures among medical students after vaccination. We conducted a cross-sectional survey on a convenience sample of students from all the 18 governmental medical schools in Egypt. A total of 2273 students participated in the online self-administered questionnaire. Around 8 in 10 (83.2%) students were fully vaccinated, of which 17.9% received the booster dose. Only 36.9% believed that COVID-19 is serious on the individual level. The majority (73.9%) strongly or slightly agreed they may become infected after vaccination if they do not follow the preventive measures. We observed a slow decline in the perceived risk of vulnerability and susceptibility to COVID-19 infection among students in parallel to a growing perception of self-efficacy and controllability. Less than one-third (28.9%) of students showed good adherence to protective measures. However, this was lower than the previously reported adherence in the same population before vaccination. Female students, those in the first academic year, those who did not contract COVID-19 infection before, and those with a higher perception of susceptibility and perceived controllability were more likely to perform better at protective measures.