Bone Abstracts

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...

Background: Rickets is a disorder of the growing child arising from impaired mineralisation of the growth plate and osteoid. The most common cause of NR in the UK is thought to be secondary to vitamin D deficiency [VDD; serum 25-hydroxyvitamin D (25OHD) <25 nmol/l], although in some African & South Asian countries dietary calcium deficiency (DCaD) by itself, or together with VDD is an important cause of NR (Ann Trop Paediatr. 2006;26:1–16). Currently, the data on ...

Background: There is still limited information on changes in growth especially segmental growth and bone mass of glucocorticoid(GC) treated boys with Duchenne Muscular Dystrophy (DMD).Objectives: To evaluate changes in growth and bone mass in GC treated boys with DMD.Methods: Retrospective study of 15 boys with DMD treated with GC, median age 7.6 years (4.1, 15.5) who had repeated DXA scan for clinical monitoring of bone health, me...

Bone fractures may depend on Vitamin D Receptor Gene (VDR), bone mineral density, bone turnover markers.Patients and methods: About 161 patients were recruited and underwent: skeletal densitometry (DXA) method and bone turnover studies (Osteocalcin and Ntx).The study group was evaluated using restriction enzyme digestion at BsmI (rs1544410), FokI (rs2228570), ApaI (rs7975232) and TaqI (rs731236), polymorphic sites of t...

Objectives: To elucidate the incidence and risk factors of skeletal toxicity in children with ALL treated with the dexamethasone-based DCOG-ALL9 protocol.Methods: Prospectively, the cumulative incidence of fractures was assessed in 672 patients and compared between different subgroups using the log-rank test. Serial measurements of bone mineral density of the lumbar spine (BMDLS) were performed in 399 ALL patients using dual energy X-ray absor...

Elevated levels of circulating serotonin have been reported to decrease bone mineral density1. Conversely, reduced serotonin (5HT) in mice lacking TPH1, the rate limiting enzyme for 5HT synthesis, was reported to be anabolic to the skeleton with high osteoblastic activity2. However, in other studies TPH1 deletion led to either an initial increase in BMD due to inhibition of osteoclastic bone resorption3, or had no bone effect4</su...

Objective: Several reports suggest very low persistence with oral bisphosphonates, but there is a scarcity of data on persistence with other anti-osteoporosis medications. We therefore compared rates of early discontinuation (in the first year of therapy) between all available outpatient anti-osteoporosis drugs in Catalonia, Spain.Study design: population-based retrospective cohort study.Participants and source of data: The data in...

Understanding normal patterns of bone growth is important for optimising bone health in children and reducing osteoporotic fractures in later life. Recently published guidelines for bone assessment in children state that to predict fractures a technique should identify children at risk of clinically significant fractures and that dual-energy absorptiometry (DXA) is the preferred method of assessment. Despite these guidelines there is still inconsistency and lack of consensus r...

Objectives: Bone, muscle and fat share common mesenchymal origins yet current methods separately examine lean, fat and/or bone content. We hypothesized specific musculoskeletal phenotypes derived from relative contributions of each tissue.Methods: Design: We obtained information from the 6-year follow-up of mother–offspring pairs within the Southampton Women’s Survey, a prospective population-based cohort study of 12 583 initially non-pregnant ...

Aim: Lean and bone mass have considerably high phenotypic and genetic correlations with a shared heritability estimate ranging between 30 and 40% in adults. A genome-wide association study (GWAS) on total body lean mass and a bivariate GWAS on lean mass and BMD were ran in a cohort of children to identify genes with pleiotropic effects on muscle mass and peak bone mass attainment.Methods: Subjects are part of the Generation R study, a prospective multiet...