Safety and efficacy of burosumab in improving phosphate metabolism, bone health, and quality of life in adolescents with X-linked hypophosphatemic rickets.

Background And Objective: X-linked hypophosphatemic rickets (XLH) is due to loss-of-function mutations in the phosphate-regulating endopeptidase homologue on the X chromosome (PHEX) that lead to increased fibroblast growth factor 23 (FGF23) production. FGF23 excess causes renal phosphate wasting and insufficient 1,25-dihydroxyvitamin D (1,25(OH)D) synthesis with reduced intestinal phosphate absorption, ultimately resulting in chronic hypophosphatemia. Children with XLH show typical skeletal lesions of rickets, deformities of the lower limbs, stunted growth with disproportionate short stature, bone pain, and physical dysfunctions.

Combined use of minimal screw synthesis and external articulated fixation is effective for the management of supra-intercondyloid humeral fractures in the elderly? A retrospective study.

Background: Fractures of the distal humerus are relatively rare and can be a source of disabling outcomes especially if not properly treated. Therefore, the objective of the treatment must be to obtain a stable synthesis that allows early mobilization, avoiding complications such as muscular hypotonotrophy, joint rigidity or delays in consolidation that may be due to prolonged immobilization of this joint. Although ORIF treatment of these fractures may intuitively appear to be the gold standard, there is still no consensus in the literature on which type of treatment is most suitable.

Pulp chamber features, prevalence of abscesses, disease severity, and PHEX mutation in X-linked hypophosphatemic rickets.

Introduction: Rickets, growth failure, and recurrent periapical abscesses with fistulae are main signs in patients with X-linked hypophosphatemic rickets (XLH). Prevalence of abscesses, pulp chamber features, biochemical findings, disease severity, and PHEX gene mutation were examined.

Materials And Methods: Pulp chambers size, shape, and morphology were assessed by orthopantomography in XLH patients (n = 24, age 5.