Bone Abstracts

Shwachman Diamond syndrome (SDS; MIM 260400) is a monogenic, autosomal recessive, pancreatic condition often accompanied by low bone mass and fracture. In SDS, as in cystic fibrosis, a low bone mass may be secondary to poor nutrition or chronic low-grade infection, but it has also been suggested there may be a primary bone phenotype. Paradoxically, recent studies in cell lines and in a mouse knockout for the SBDS gene, have suggested changes in important osteoclast gr...

Objective: Hypophosphataemic rickets (HPR) is associated with high concentrations of fibroblast growth factor 23 (FGF23). Chronically elevated FGF23 may impact on cardiac function and the skeleton. There is little evidence on how FGF23 changes with time in HPR or how it is affected by treatment. The aim of this study was to evaluate changes in FGF23 concentrations over time in patients with HPR.Methods: Retrospective data was collected from our Metabolic...

The autophagy protein LC3 is necessary for bone resorption by osteoclasts, although it has been suggested that this may be through a novel, autophagy-independent process, by promoting lysosomal fusion at the ruffled border (RB). This process would be analogous to LC3-associated phagocytosis (LAP), in which LC3 is acquired by phagosomes through an autophagy-independent process, and controls phagosome maturation by promoting fusion with lysosomes. We have investigated this possi...

Although Vitamin D deficiency is the most common form of rickets worldwide, when there is a failure to respond to cholecalciferol, inborn errors of vitamin D metabolism should be considered. We describe two unrelated individuals who presented with early onset rickets characterised by reduced serum levels of 25(OH)D and 1,25(OH)2D, and a deficient response to Vitamin D2/D3 and calcitriol. Case 1: A Caucasian Australian girl with non-consanguineous parents ...

Epilepsy is a relatively common condition of childhood, with anti-epileptic drugs (AEDs) the mainstay of medical therapy. AED use in adults has been shown to be associated with impaired bone density and increased risk of bone fracture. Paediatric data are more limited particularly in relation to fracture risk and skeletal geometry.This study aimed to examine the within-pair differences in fracture prevalence and bone, muscle and balance parameters in sex...

DMAb increases BMD and reduces bone resorption and risk of vertebral, nonvertebral and hip fractures in women with PMO. Transiliac crest bone biopsies in 47 subjects treated with DMAb for 1–3 years showed reduced bone turnover vs 45 Pbo-treated subjects, which reversed on treatment cessation. Since bone turnover reduction is sustained and fracture incidence low over 6 years’ DMAb treatment, we evaluated DMAb’s effects on tissue-level remodelling in the FREEDOM E...

Burosumab, a monoclonal antibody targeting fibroblast growth factor 23, is now available for clinical use in children with X-linked hypophosphatemia (XLH). We aimed to explore the effects of burosumab in children with XLH in a clinical setting, considering: a) Biochemistry b) Growth c) Lower limb deformity (LLD) d) Radiology e) Motor function<p class="abstext"...

Background: It is known that one of the features of rheumatoid arthritis (RA) is a generalized bone loss, therefore important tasks for the physician are timely evaluating of the risk of fractures and approving osteoporosis treatment in patients with RA.Objectives: Through the Programme of the Russian Association of Rheumatology for the diagnosis, prevention and treatment osteoporosis (OP) in patients with RA we evaluated the 10 year probability of major...

Aim: We present the case of a 36y female patient with multiple fragility fractures after the age of 21 and mutations in COL1A1, COL1A2 and GNAS genes.Material and methods: A 36y female patient with multiple fractures of the axial and appendicular skeleton was referred to us for consultation. The patient was born with hexadactyly of the left foot and had a history of mild thoracolumbar scoliosis (10°) and medium height (165 cm) with no other history ...

Morbidity and mortality are associated with osteoporosis and sarcopenia. There are few data describing the associations between functional measures of muscle and bone. Therefore, the aim of this study was to examine the associations of muscle strength and tibial bone outcomes in ageing men.Men (n=301) aged 40–85 years were recruited in UK (201-White, 43-Black, 57-South-Asian). pQCT was performed at the 38 and 66% tibia with the outcome meas...