Bone Abstracts

Hypophosphatasia (HPP) is the rare inherited metabolic disease caused by loss-of-function mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene. TNSALP deficiency leads to extracellular excess of inorganic pyrophosphate, a bone mineralization inhibitor. Here, we report the validity and reproducibility of a novel scale to quantify HPP-specific radiographic changes in pediatric patients.The Radiographic Global Impression of Change (RGI-C) ...

Background: Cardiovascular disease is the leading cause of death in pediatric (ped) and adult ESRD patients. Left ventricular hypertrophy (LVH) is an independent predictor of mortality in ESRD. Besides traditional risk factors, such as high BP & fluid overload, high plasma FGF23 is associated with LVH in adult ESRD patients. Little is known about Kl, the renally produced cofactor of FGF23 for phosphorus (P) homeostasis. We studied ped HD patients for risk factors for LVH, ...

Background: Osteogenesis imperfecta (OI) is a heterogeneous group of disorders characterized by bone fragility. The current classification comprises five forms (OI types I–V) with autosomal dominant inheritance and seven rarer forms (OI types VI–XII) with recessive inheritance. OI type V (MIM 610967) has distinguishing radiological features, such as propensity to hyperplastic callus formation, calcification of the forearm interosseous membrane, radial-head dislocatio...

In type 2 diabetes mellitus (T2DM) patients, an increased fracture risk is observed, although the bone mineral density is even higher than in non-diabetic patients, which raises the question of the quality of the organic and inorganic matrix in bone1,2. T2DM is also known to favor inflammation of the gingiva and paradontosis in general. However, little is known about the mineral nano-architecture in the mandible and about the possible influence of diabetes. Using sy...

In type 2 diabetes mellitus (T2DM) patients, an increased fracture risk is observed, although the bone mineral density is even higher than in non-diabetic patients. This raises the question of the quality of the organic and inorganic matrix in bone1–3. T2DM is also known to forward dysfunctions in the development of soft tissues such as brittle skin due to cross-linking of the collagen or inflammation of the gingiva. For the latter, a possible influence of diab...

Objectives: To assess the effects of short-term vitamin D supplementation on bone metabolism, glycaemic status and immune function in vitamin D deficient children.Method: Treatment with daily 5000 IU cholecalciferol supplementation for 6 weeks. At baseline and end of treatment serum 25 hydroxyvitamin D (25(OH)D), parathyroid hormone (PTH), alkaline phosphatase (ALP), serum collagen type 1 cross-linked C-telopeptide (CTX), serum calcium, HbA1c, sex hormon...

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...