Bone Abstracts

Osteogenesis imperfecta (OI) classification has recently been broadened to include genes that primarily affect osteoblast differentiation. TMEM38B encodes TRIC-B, a ubiquitously expressed monovalent cation-specific channel protein involved in calcium release from the endoplasmic reticulum. How alterations in TMEM38B cause OI remains poorly understood and bone matrix characteristics in affected patients have not previously been described.<p class="abstext"...

Metabolic bone disease (MBD) of prematurity is a well-recognized complication of preterm birth. Yet there is limited evidence for the optimal assessment, monitoring, and subsequent bone health management.Retrospective audit of 171 infants born <32 weeks’ gestation between November 2012 and January 2014 at three Monash Health neonatal units (Melbourne, Australia) was undertaken. Infants had mean gestational age (GA) 28.6±2.1 weeks and birth ...

Objective: Bone metabolism was studied in patients with phosphate diabetes before and after medication.Methods: 39 patients with phosphate diabetes age 2–18 years (7.8±4 years, 64% male) and multiplanar deformities of the lower extremities were treated with monthly vitamin D (2000 IU/day), alfacalcidol (0.25 mg/every other day) and calcium glycerophosphate (600 mg/day) for 6 months.Biochemical indices were evaluated befor...

Calcium supplements are associated with increased cardiovascular risk, but the mechanism by which this occurs is presently uncertain. In a secondary analysis of a trial examining the acute effects of calcium supplements, we found that blood pressure declined over 8 h in the control group, consistent with its diurnal rhythm, and that this decline was smaller in the calcium group [1]. To investigate these effects further, we carried out a randomised controlled cross-over trial o...

Goal: The use of intramedullary telescopic constructs for osteosynthesis in surgical correction of bone deformities in children with systemic skeletal disease can be complicated by delayed bony union, and the structural and functional pathology of bone in patients with these disorders do not always make it possible to avoid displacement of bone fragments and effectively correct the deformity.Methods: Analysis of treatment of 11 patients of femoral and ti...

Objectives: The ketogenic diet (KD) is a medically supervised, high fat, low carbohydrate and restricted protein diet which has been used successfully in patients with refractory epilepsy. Only one published report has explored its effect on the skeleton. We postulated that KD impairs bone mass accrual and examined skeletal health parameters in this patient group.Methods: Patients commenced on the KD from 2002–2009 were enrolled in a prospective, lo...

Background: Paget’s disease of Bone (PDB) has a strong genetic component and a candidate locus for the disease has been identified on chromosome 14q32, tagged by rs10498635 located within RIN3 (Albagha et al, Nat Genet 2011). RIN3 encodes a protein that acts as a guanine nucleotide exchange factor for Rab5b and Rab31. Here we investigated the candidacy of RIN3 as a predisposing gene for PDB.Methods: We studied expression of RIN3 by quantita...

Introduction: The effectiveness of intravenous pamidronate was assessed independently and in combination with corrective osteotomy surgery for lower extremity deformities in children with osteogenesis imperfecta.Methods: Orthopaedic treatment was conducted in 21 patients with OI (type I–ten patients, type III–11 patients), including 13 males and eight females with mean age 9.4±0.6. All patients received calcium supplements and active forms...

Background: Hypercalcaemia is a risk following stem cell transplant (SCT) for all types of autosomal recessive osteopetrosis (ARO) due to restored osteoclast differentiation. This can be particularly severe in the osteoclast-poor (OP) form involving the tumour necrosis factor receptor superfamily 11A (TNFRSF11A) gene, encoding RANK. Denosumab, a monoclonal antibody blocking RANK activation, has been described for refractory post-SCT hypercalcaemia in two cases. Our case adds n...

Objectives: To investigate the impact of Type 1 Diabetes Mellitus (T1DM) on cortical and trabecular microarchitecture, and bone strength in adolescents; using High Resolution peripheral Quantitative Computed Tomography (HRpQCT) and microfinite element analysis. To our knowledge, this is the first study in children, assessing the impact of T1DM on skeletal microstructure and strength using HRpQCT.Methods: We recruited 22 patients aged 12–16 years wit...