X-linked hypophosphataemia (XLH) is an X-linked dominant disorder caused by mutations in PHEX (located at Xp22.1), which encodes a cell-surface-bound protein-cleavage enzyme (phosphate-regulating neutral endopeptidase PHEX), predominantly expressed in osteoblasts, osteocytes and teeth (odontoblasts and cementoblasts). XLH is the most common cause of inherited phosphate wasting, with an incidence of 3.9 per 100,000 live births and a prevalence ranging from 1.7 per 100,000 children to 4.8 per 100,000 persons (children and adults) 1-3. Although the pathogenesis of XLH is not fully understood, animal studies indicate that loss of Phex function results in enhanced secretion of the phosphaturic hormone fibroblast growth factor 23 (FGF23), with osteocytes being the primary source of FGF23 production 4. These effects explain most of the characteristic features of the disease, including renal phosphate wasting with consequent hypophosphataemia, diminished synthesis of active vitamin D (1,25(OH) 2 vitamin D), rickets, osteomalacia, odontomalacia and disproportionate short stature 4-6. Patients usually develop clinical symptoms during the first or second year of life. Early treatment with oral phosphate supplementation and active vitamin D heals rickets, limits dental abscess formation and prevents progressive growth failure, but in a substantial proportion of patients treatment is unsuccessful and/or associated with adverse effects (for example, hyper parathyroidism and nephrocalcinosis) 7,8. Up to two-thirds of children with XLH require lower limb surgery 9-12. Conventional therapy further stimulates FGF23 levels and thereby renal phosphate wasting, resulting in a vicious circle, which might limit its efficacy 6,13-15. Adult patients with XLH are at risk of complications such as early osteoarthritis, enthesopathies, spinal stenosis, pseudofractures and hearing loss, which might limit quality of life 16-18. In 2018, burosumab, a fully human monoclonal IgG1 antibody neutralizing FGF23, was approved by health authorities for the treatment of patients with

Overall, radiographic FAI findings are quite common in a population of healthy young adults, especially in males, with a high degree of coexistence among most findings (OR > 2).

Between 1998 and 2002, 37 neuropathies in 32 patients with a displaced supracondylar fracture of the humerus who were referred to a nerve injury unit were identified. There were 19 boys and 13 girls with a mean age of 7.9 years (3.6 to 11.3). A retrospective review of these injuries was performed. The ulnar nerve was injured in 19, the median nerve in ten and the radial nerve in eight cases. Fourteen neuropathies were noted at the initial presentation and 23 were diagnosed after treatment of the fracture. After referral, exploration of the nerve was planned for 13 patients. Surgery was later cancelled in three because of clinical recovery. Six patients underwent neurolysis alone. Excision of neuroma and nerve grafting were performed in four. At follow-up, 26 patients had an excellent, five a good and one a fair outcome.

No abstract