Bone Abstracts

Background: Severe vitamin D deficiency (VDD), is a common disorder, which has complications including rickets, hypocalcaemia, hypotonia, delayed development and cardiomyopathy. Although nutritional rickets associated craniosynostosis has been reported, there is little awareness of this or knowledge about its clinical course or severity. We present five cases of late onset craniosynostosis in association with nutritional rickets.Clinical presentation: Th...

Osteocytes make up >90% of bone cells, are embedded in mineralised matrix where they form a communication network. Osteocytes differentiate from osteoblasts, and are mechano-sensitive. They are very difficult to isolate with a dependence on cell lines for in vitro studies of osteocyte biology. Therefore new methods to study these cells are essential. Recent publications indicate that osteoblasts maintained in in vitro 3D collagen gels may differentiate to...

Osteoporosis and vertebral fractures are recognised complications of ankylosing spondylitis (AS) but the underlying causes are incompletely understood. Osteoprotegerin (OPG) is a decoy receptor for RANK-L and inhibits osteoclastogenesis. We have previously demonstrated that antibodies to OPG (OPG-Ab) are associated with osteoporosis and increased bone turnover in patients with autoimmune diseases. The aim of this study was to determine whether OPG-Abs were detectable in AS pat...

Background: Hypophosphatasia is generally regarded as a disease of bone and teeth. Lack of Tissue Non-Specific Alkaline Phosphatase (TNAP) leads to an accumulation of inorganic pyrophosphate and the Vitamin B6 metabolite pyridoxal 5′-phosphate (PLP), a reduction in pyridoxic acid (PA) and increased PLP/PA ratio. Vitamin B6 deficiency in the brain impairs synthesis of neurotransmitters, and is a well-recognised cause of neonatal seizures. We have found no previous reports...

Hypoparathyroidism results in low bone turnover and increased bone mineral density (BMD). Replacing deficient PTH with rhPTH(1–84) has the potential to correct these skeletal abnormalities. To investigate the effect of rhPTH(1–84) on BMD and bone turnover markers (BTMs), data from two studies were assessed.REPLACE, a double-blind, multicenter, placebo-controlled study, randomized 134 patients with hypoparathyroidism to receive once-daily rhPTH(...

Objective: With recent genome wide association studies (GWAS), ~70 loci have been robustly and reproducibly associated with adult bone density and/or osteoporosis. However, to date no systematic effort has investigated which of these loci operate early in life. We investigated whether these single nucleotide polymorphisms (SNPs) are associated with childhood areal bone mineral density (aBMD). In addition we determined if any of the associations were age dependent.<p class=...

Objectives: We evaluated the efficacy and safety of intravenous zoledronic acid (IV ZA) in children with glucocorticoid-induced osteoporosis (GIOP) through a randomized, placebo (PBO)-controlled trial.Methods: In this multi-national Phase 3 trial (NCT00799266), children 5–17 years of age with GIOP and low-trauma vertebral fractures (VF) were randomized 1:1 to IV ZA 0.05 mg/kg or IV PBO every six months for one year. Changes in lumbar spine areal bon...

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: Low vitamin D concentrations among children and adolescents at northern latitudes are frequently observed. Also, inverse associations between 25-hydroxyvitamin D (25(OH)D) and PTH concentrations have been found in children of different ages. More studies on the link between vitamin D status and childhood bone health are needed.Objective: To evaluate the status of serum 25(OH)D in autumn and the association between 25(OH)D concentrations and b...

Introduction: Mitochondrial dysfunction is associated with several clinical outcomes including diabetes and myopathy and is implicated in the human aging process. We previously showed that the mitochondrial DNA point mutation mtDNA3243A>G is associated with lower BMD and altered bone structure. The aim of this study was to assess bone turnover markers in individuals with the mutation and controls.Methods: We recruited 45 patients (29 female, 16 male)...