Bone Abstracts

Background: X-linked hypophosphatemic rickets (XLH), the most common inherited rachitic disorder, is often misdiagnosed as nutritional rickets or physiologic bowing. Patients typically present in early childhood with progressive bowing deformities of the lower extremities and short stature, however may also develop craniosynostosis. Here we present a case of an adopted Caucasian male whose presentation of papilledema, craniosynostosis and hypophosphatemia eventually led to the...

Romosozumab is an investigational bone-forming agent that inhibits sclerostin. Recent data demonstrated that it stimulated bone formation, decreased bone resorption, and led to rapid and substantial increases in areal bone mineral density (BMD; McClung, J Bone Miner Res 27 (S1) S8–S9, 2012). In a Phase 1b, randomized, double-blind, placebo-controlled, multiple dose study, we studied the effects of romosozumab administered for 3 months and follow-...

Osteoporotic fractures of the vertebrae are often silent and if left untreated will lead to progressive loss of vertebral body height and significant kyphoscoliosis, with its associated morbidity. However if vertebral fractures (VF) are detected early, treatment with bisphosphonates accelerates healing of prevalent fractures and reduces incident fractures.A survey of members of the British Paediatric and Adolescent Bone Group showed that treatment is sta...

Peak bone mass is a major determinant of osteoporosis risk and subsequent fragility fractures in older age. There is a wide range of factors influencing peak bone mass, ranging from those acting very early in life, for example in utero and periconception, to those acting through childhood and adolescence into young adulthood. In this presentation I will give an overview of some overarching themes and principles of relevance to peak bone mass, using specific clinical scenarios ...

Biographical DetailsNicholas HarveyNicholas Harvey was appointed to a personal chair at the University of Southampton in 2015, and leads, with Professor Cooper and Professor Dennison, an MRC programme focused on the lifecourse epidemiology of bone and joint disease, as part of the MRC Lifecourse Epidemiology Unit. He is working to i) translate epide...

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Multiple Myeloma (MM) is a malignancy of Plasma Cells (PC), characterized by severe osteolytic lesions but poor 99Tc-MDP uptake in bone scans due to osteoblast inhibition. We hypothesized that high demands for membrane biosynthesis in tumour PC would enhance monocarboxylic acid anabolism and uptake, which could be exploited for treatment and molecular imaging. Here, we tested the efficacy of clinically available 11C-Acetate PET to detect myeloma and quant...

Osteogenesis imperfecta (OI) type V is caused by a unique dominant mutation (c.−14C>T) in IFITM5, which encodes BRIL, a transmembrane ifitm-like protein most strongly expressed in osteoblasts, while type VI OI is caused by recessive null mutations in SERPINF1, encoding pigment epithelium-derived factor (PEDF). We identified a 25-year-old woman with severe OI, whose dermal fibroblasts and cultured osteoblasts displayed minimal secretion of PEDF, but ...

Objectives: Adolescent idiopathic scoliosis (AIS) is a complex three-dimensional spinal deformity associated with low bone mass. Our previous clinical trial demonstrated the anabolic bone effect of vibration treatment (VT) at the femoral neck in AIS subjects. The therapeutic effect was more pronounced in those with optimal serum 25(OH) Vit-D level (>40 nmol/l). To investigate possible factor interaction between Vit-D and VT on their anabolic bone effects, this in-vitro...

Background: Pseudohypoparathyroidism (PHP) is a group of heterogeneous endocrine disorders characterised by hormone resistance, primarily to parathyroid hormone (PTH). The resistance is caused by defects in the GNAS gene, which encodes the Gsα protein that activates the cAMP pathway. PHP patients demonstrate elevated plasma PTH, hypocalcaemia, hyperphosphataemia with normal renal function. PTH resistance can be confirmed by Ellsworth-Howard test (PTH s...