Bone Abstracts

Objectives: Autosomal Dominant Hypocalcaemia (ADH) is due to gain-of-function mutations of the CASR resulting in constitutive activation of the GPCR Calcium Sensing Receptor (CaSR) leading to hypercalciuric hypocalcaemia, hypoparathyroidism and occasionally Bartter syndrome type V. Patients usually present with hypocalcaemic seizures at young age. Conventional treatment is with Alfacalcidol and Calcium or PTH injections. We describe a series of five patients with ADH ...

Evidence is unclear on the effect of vitamin D intake on vitamin D status in children.Objective: In a meta-analysis, investigate the effect of vitamin D supplements and/or fortified foods on vitamin D status, using the biomarker 25-hydroxyvitamin D (25(OH)D) in children 2–18 years.Methods: Eligible studies were randomized placebo-controlled trials, published in English, in children 2–18 years that compared vitamin D suppl...

Gaucher’s disease is a glycolipid storage disorder caused by an autosomally inherited deficiency of the lysosomal enzyme glucocerebrosidase. The majority of patients with Gaucher’s disease develop abnormal bone remodelling with severe consequences, including osteonecrosis, bone crises, and osteoporosis related fractures. Although enzyme replacement therapy is effective at reversing many of the pathological consequences, and preventing further progression of this dise...

Objectives and method: We retrospectively reviewed records of current patients with osteogenesis imperfecta (OI) to identify those on risedronate, doses used and effects of treatment. BMD changes over time were calculated as difference between measurement before risedronate and at one year (including measurements −3–0 m and 10–14 m after starting risedronate respectively).Results: 219/296 (74%) patients with OI had received bisphosphonate...

The relationship between vitamin D status and lean mass accretion in young children is not well understood.Objective: To explore vitamin D status in relation to lean mass outcomes over 12 mo in children 2–8 years.Methods: This was a secondary analysis of trial data (clinicaltrials.gov: NCT02097160, NCT02387892) in Montreal, Canada. Children consumed their normal vitamin D intake for 6 mo (Apr–Oct 2014, n=39) and ...

In children, it is not well understood how bone mineral accretion is related to lean mass accretion and vitamin D status.Objective: To explore over 12 mo how bone parameters relate to lean mass and vitamin D metabolites in children 2–8 years.Methods: This was a secondary analysis of data from 2 trials (clinicaltrials.gov: NCT02097160, NCT02387892) in Montreal, Canada. Children consumed their normal diet without vitamin D suppl...

see PP494....

The process of vascular calcification shares many similarities with that of skeletal mineralisation, and involves the deposition of hydroxyapatite crystals in arteries and cardiac muscle. However, the cellular mechanisms responsible have yet to be fully elucidated. BMP-9 has been shown to exert direct effects on both bone development and vascular function. In the present study, we have investigated the role of BMP-9 in vascular smooth muscle cell (VSMC) calcification. Murine V...

The process of vascular calcification shares many similarities with that of skeletal mineralisation, and involves the phenotypic trans-differentiation of vascular smooth muscle cells (VSMCs) to osteoblastic and chondrocytic cells within a calcified environment. Various microRNAs (miRs) are known to regulate cell differentiation, however their role in mediating VSMC calcification has yet to be fully understood.Murine VSMCs were cultured for up to 28 days ...

Increasing interest is focusing on the role of the FGF-23/Klotho axis in mediating vascular calcification. However, the underpinning mechanisms have yet to be fully elucidated. Murine VSMCs were cultured in calcifying medium for a 21-day period. FGF-23 mRNA expression was significantly up-regulated by 7 days (1.63-fold; P<0.001), with a concomitant increase in protein expression. mRNA and protein expression of both FGFR1 and Klotho were confirmed. Increased FGF-23...