Charcot-Marie-Tooth disease (CMT) is an inherited neurological disorder characterized by the progressive damage of the peripheral nerves. We generated a human induced pluripotent stem cell (iPSC) ...line JUCTCi019-A using dermal fibroblasts-derived from a 50-year-old CMT2A2 patient carrying a heterozygous missense substitution c.2119C > T (p.Arg707Trp) in the MFN2 gene. Fibroblasts were reprogrammed by Sendai viruses encoding for the reprogramming factors: OCT4, SOX2, KLF4 and c-MYC. Characterization showed normal iPSC morphology and karyotype, expression of pluripotency markers and differentiation into three-germ layers. This iPSC line represents an ideal source for disease modelling and drug development of CMT2A2 disease.
Background: Vitamin D is essential for many functions of the body. In addition to its primary function of regulating the absorption of calcium in the small intestine, its role in the immune system ...has recently been studied. The current study aimed to test the impact of vitamin D deficiency on the rate of recurrent acute tonsillitis in children. Methods: According to Paradise criteria, two hundred forty-two children with recurrent acute tonsillitis were recruited. A group of healthy children (n = 262) was also recruited as controls. Poisson regression was run to predict the number of tonsillitis episodes per year based on vitamin D levels. The mean vitamin D level in the study group was lower than in the control group (p < 0.0001). Poisson regression of the rate of recurrent tonsillitis and vitamin D level (OR = 0.969 (95% CI, 0.962−0.975)) showed that for every single unit increase in vitamin D level, there was a 3.1% decrease in the number of tonsillitis episodes per year (p < 0.0001). Conclusions: Vitamin D deficiency is associated with higher rates of recurrent acute tonsillitis. Future controlled trials should investigate the role of vitamin D supplementation in reducing the rate of recurrent tonsillitis.
