Bone Abstracts

Background: Systemic alterations in Runx2 expression have been shown to affect flat and long bone formation differently: Inactivating mutations cause low-turnover bone disease and patent fontanels in cleidocranial dysplasia, while overexpressing mutations cause metaphyseal dysplasia with maxillary hypoplasia and brachydactyly. The two conditions have inverse skeletal phenotypes. We know of no descriptions of these disorders in a patient without duplications or mutations of Run...

In a meta-analysis by Estrada et al. (2012), 56 loci were found associated with BMD, 14 of which were also associated with osteoporotic fracture. Several of these genes belong to the Wnt signaling pathway, including two inhibitors: DKK1 and SOST.To better understand the role of these genes in BMD determination and fracture susceptibility, we aimed to explore their allelic architecture by resequencing all coding exons and flanking region...

Background: The relation between sex hormone-binding globulin (SHBG) and vertebral fracture (VFx) is unclear.Aim: To examine whether SHBG is associated with bone mineral density at lumbar spine (LS-BMD), trabecular bone score (TBS) and prevalent VFx.Methods: Data of 6224 men and women participants in the third visit of the first cohort (I-3) and the first visit of the second cohort (II-1) of a prospective population based cohort, w...

Background: Fracture risk is increased in Type 2 diabetes (T2D) individuals. Bone mineral density (BMD) is inversely associated with fracture risk but paradoxically high in T2D individuals. Trabecular bone score (TBS) reflects bone microarchitecture and predicts fracture risk.Objective: We aimed to compare mean lumbar spine TBS (LS-TBS) and lumbar spine BMD (LS-BMD) values, across individuals with and without i) vertebral fracture (VFx), ii) T2D; and iii...

Introduction: Due to the ‘greying’ of (industrialized) societies the incidence of osteoporosis and fragility fractures is expected to be increasing. Our aim was to investigate in an elderly population if the incidence of non-vertebral fractures (overall and site specific) has changed after a longer follow-up, and its relation with osteoporosis or osteopenia assessed by bone mineral density (BMD) at baseline.Methods: Incident non-vertebral fract...

Biographical DetailsDr A Linglart is a Paediatric Endocrinologist working at the Hôpital St Vincent de Paul in Parism, France. She has a special interest in rare diseases....

Objective: We compared the efficacy and safety of burosumab, a monoclonal antibody against FGF23, to conventional therapy [oral phosphate and active vitamin D (Pi/D)] in children with X-linked hypophosphatemia (XLH).Methods: In this Phase 3 trial (NCT02915705), 61 children with XLH (1-12 years-old) were randomized 1:1 after a 7-day Pi/D washout to receive burosumab starting at 0.8 mg/kg SC Q2W or reinitiate Pi/D optimally titrated by investigators. Eligi...

Introduction: Effective screening for vitamin D (Vit-D) insufficiency is desirable. Pigmentation of unexposed (constitutive) skin and exposed (facultative) skin can be measured with skin colourimetry to assess dermal capability in synthesizing Vit-D and degree of sunlight exposure respectively. This study aimed at evaluating whether skin colourimetry could be used to screen Vit-D insufficiency among adolescents.Methods: 240 healthy adolescents (mean age=...

Biographical DetailsAnya RothenbuhlerAnya Rothenbuhler became MD at the Faculty of Medicine Lille 2 in France in 2003 with a primary specialization in Pediatrics. She then became assistant Professor in the Pediatric Endocrinology Department in Cochin-Saint Vincent de Paul Hospital, Université Paris Descartes and trained to become a pediatric en...

Objectives: Within the National Health Service there is a recognised need for supporting young peoples transition into adult services1. Focus groups and forums have historically been used to identify how to achieve ‘good’ transition between services, from the perspective of patients, carers and professionals. A recent article recommended an individualised programme supporting transition for young people with osteogenesis imperfecta (OI)2. The ai...