Takenouchi-Kosaki syndrome (TKS) is a recently delineated syndromic form of thrombocytopenia strictly related to an hot-spot missense variant, p.Tyr64Cys, in CDC42 (Cell Division Control protein 42). Herein we report an additional patient with the p.
View Article and Find Full Text PDFSevere acute respiratory syndrome coronavirus 2 infection was declared a pandemic in January 2020. Since then, several measures to limit virus transmission have been imposed; among them, home confinement has been the most severe, with drastic changes in the daily routines of the general population. The "stay at home" rule has impaired healthcare service access, and patients with chronic conditions were the most exposed to the negative effects of this limitation.
View Article and Find Full Text PDFPediatric obesity is one of the most relevant health issues of the last century. Obesity-related short and long-term consequences are responsible of a large amount of economic cost. In addition, the different therapeutic strategies, such as lifestyle correction, drug, and bariatric surgery have displayed low effectiveness.
View Article and Find Full Text PDFs: The natural history of non-optic central nervous system (CNS) tumors in neurofibromatosis type 1 (NF1) is largely unknown. Here, we describe prevalence, clinical presentation, treatment, and outcome of 49 non-optic CNS tumors observed in 35 pediatric patients (0-18 years). Patient- and tumor-related data were recorded.
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