Search Results - Giorgia Pepe
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Familial idiopathic short stature and beyond: a case-report of a novel heterozygous NPR2 mutation.
Published 2024-07-01Get full textBackground: NPR2 gene encodes for B-type natriuretic peptide receptor (NPR-B), a positive regulator of the growth plate. Recently, heterozygous NPR2 mutations were reported in 2–6% cases of idiopathic short stature (ISS) and 13.6% of familial ISS. Case report: A 9-years-old boy was referred to ou...
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The importance of early diagnosis of X-linked hypophosphatemic rickets: a case report
Published 2024-07-01Get full textX-linked hypophosphatemic rickets (XLH) is the commonest inherited form of rickets. XLH is caused by an impaired regulation of fibroblast growth factor 23 (FGF23) due to a PHEX gene mutation, leading to chronic renal phosphate excretion and impairment of vitamin D activation. Children with XLH show...
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Building a Healthy Future: Functional Motor Skill Development in Precocious Prevention of Childhood Obesity
Published 2025-05-01Get full textBackground: The rising prevalence of childhood obesity (CO) has been strongly linked to physical inactivity and sedentary behavior. Early development of functional movement skills (FMS) is crucial for fostering active lifestyles and preventing CO. Methods: We assessed the FMS of 102 children aged 3–...
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