Bone Abstracts

Background: The development of hypophosphataemic rickets in infants fed with the elemental formula (EF) Neocate® has been recently reported. We present seven cases of exclusively Neocate-fed babies who developed hypophosphataemic rickets.Presenting problem: Three patients (P1,3,4) had incidental findings of rickets on chest X-rays, two (P2,6) developed leg deformities and rickets was confirmed on X-rays, and two (P5,6) presented with femu...

Proteoglycans is a component of extracellular matrix, forming a mesh around structural proteins including collagen and elastin, and providing elasticity to tissue structure. Proteoglycans is formed by the attachment of glycosaminoglycans to a core protein, a process that requires three enzymes: galactosyltransferase-1, galactosyltransferase-2 and glucoronosyltransferase-1, encoded by B4GALT7, B3GALT6 and B3GAT3 respectively. B3GALT6 mutation...

Objective: Over the last decade, there has been increasing scientific interest in vitamin D, and it is now advised that all pregnant women and infants should receive vitamin D supplementation. Despite of this, it is recognized that knowledge of vitamin D in the general public is limited. The internet is now an important source of health care information and analysis of internet search activity rates can provide information on disease epidemiology, health related behaviors and ...

Objective: Public Health England recommends that children in the United Kingdom (UK) aged over 1 year should take a vitamin D supplement containing 400 IU/day. Commercially available children’s multivitamin and vitamin D supplements were surveyed to determine the vitamin D content.Methods: Multivitamins and vitamin D supplements marketed at children <12 years and sold by nine UK supermarkets and health supplement retailers were surveyed. The vit...

Objectives: An increased fracture risk is reported in children requiring recurrent courses of glucocorticoids. Reduced bone mineral density (BMD), particularly in the trabecular compartment, has also been demonstrated in a number of childhood diseases treated with glucocorticoids. The differential contribution of glucocorticoids and underlying inflammatory disease to bone demineralisation is poorly understood. Childhood nephrotic syndrome (NS) often follows a relapsing-remitti...

Fractures are common in childhood, but multiple fractures during growth could indicate osteoporosis. Children with frequent fractures might benefit from further investigations for osteoporosis and as such, obtaining an accurate fracture history is important. The 2013 International Society for Clinical Densitometry Paediatric Osteoporosis Position Statement defined a clinically significant fracture history as two long bone fractures before age 10 years or three long bo...

Objectives: Children who fracture have lower bone mineral density (BMD) measured by dual energy X-ray absorptiometry (DXA) than children who do not sustain fractures, but there is little data on bone microarchitecture in relation to childhood fracture. We assessed tibia microarchitecture using high resolution peripheral quantitative computed tomography (HR-pQCT) in children with recent fracture and those without a history of fracture.Methods: Children ag...

Objectives: Weight bearing physical activity (PA) is thought to be beneficial to bone mineral accrual in childhood, but the influence of PA and sedentary time on bone microarchitecture is less well described. We examined the relationships between self-reported PA and volumetric bone mineral density (vBMD) and bone microarchitecture at the distal tibia, assessed using high resolution peripheral quantitative computed tomography (HR-pQCT).Methods: Healthy c...

Objectives: X-linked hypophosphataemia (XLH) is a rare inherited form of osteomalacia characterised by low blood phosphate levels which lead to inadequate mineralisation of bone and rickets. Burosumab is an anti-FGF23 fully human monoclonal-antibody, and the first treatment to target the underlying pathophysiology of XLH. Real-world evidence is important in validating the findings of clinical studies. We report relevant real-world biochemical data on children under five years ...

Objectives: X-linked hypophosphataemia (XLH) is a rare inherited form of osteomalacia characterised by low blood phosphate levels which lead to inadequate mineralisation of bone resulting in rickets, skeletal abnormalities, physical impairment, weakness, and pain. Burosumab is an anti-FGF23 fully human monoclonal-antibody, and the first treatment to target the underlying pathophysiology of XLH. Real-world evidence is important in validating the findings of clinical studies. We...