Bone Abstracts

Objectives: Serum 25(OH)-vitamin D (25(OH)D) concentration is known to influence muscle function in postnatal life. Maternal 25(OH)D status during pregnancy has been implicated in the fetal programming of bone and fat mass, but little is known about its role in determining offspring muscle development. We investigated the associations between maternal serum 25(OH)D concentration in pregnancy and offspring muscle mass and strength at 4 years.Materials and...

Although it has been suggested that overweight and obese children have an increased risk of fracture, recent studies in post-menopausal women have shown that the relationship between obesity and fracture risk varies by fracture site. Thus, obesity is protective against wrist fractures but confers an increased risk of humeral fractures. There are no data to suggest whether this observation is also present in children. We therefore assessed whether adiposity and overweight/obesi...

Epidemiological studies suggest that patients using proton pump inhibitors (PPIs) have increased fracture risk. We have previously shown that H+/K+ATPase beta-subunit knockout (KO) mice have reduced BMD, BMC and mechanical bone strength compared to WT. Like users of PPIs, these mice have elevated serum gastrin levels due to high gastric pH. We wanted to study whether elevated gastrin influences bone quality in these mice.Female KO and WT mice aged 6 week...

In a recent unbiased transcriptomic study of genes associated with equine osteochondrosis, we identified several novel cartilage genes. The current study was undertaken to determine whether these genes are regulated during chondrocyte hypertrophy, and to identify novel hypertrophy-associated genes for further study in vitro. Gene expression was investigated by quantitative PCR (qPCR) in different zones of growth cartilage microdissected from equine foetal metatarsal b...

Background: X linked hypophosphataemic rickets is the commonest cause of renal phosphate wasting, however sporadic cases may warrant additional investigations to exclude less common causes, as exemplified by our case.Presenting problem: A 3 year 7 month boy was referred for assessment and ongoing management of rickets and short stature (height less than 1st %.) He originally presented with leg bowing and waddling gait from the age of 12 months...

It is unclear as to whether western dwelling South Asian (SA) postmenopausal women have a different fracture risk to that of the native Caucasian (C) population. Moreover, the WHO Fracture Risk Assessment Tool (FRAX) has not been used previously to compare predicted risk of fractures in western dwelling South Asian women with same-age Caucasian women. This analysis used data from n=35 SA [mean (S.D.) age=59 (6) years] and n=136 C [mean (...

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...

Objectives: Intravenous cyclical bisphosphonates are widely used to treat children with moderate to severe osteogenesis imperfecta (OI). They increase bone mineral density (BMD), diminish fracture rates and improve mobility. Bisphosphonates are often discontinued when growth is completed. We aimed to determine if the skeletal gains achieved with bisphosphonates persist after their discontinuation in patients with OI.Methods: We assessed patients with OI ...

Objectives: Haemophilia A (FVIII deficiency) is an X-linked disorder of haemostasis with bleeding tendency, mainly in joints and muscles. Recurrent haemarthroses, subsequent immobilization and avoidance of contact sports, may affect these patients’ skeletal health.Methods: Evaluation of bone health was performed in 51 children with Haemophilia A (severe: 41, all on prophylaxis treatment), mean age: 11.7±3.6 years. Dual-energy X-Ray absorptiomet...

Vertebral fractures (VF) defined by morphometric analysis of spine radiographs are the most common complication of osteoporosis. Those that come to medical attention, with symptoms such as back pain and kyphosis are termed clinical vertebral fractures (CVF) and account for significant morbidity and mortality. Although much progress was made in identifying loci for bone mineral density, the genetic determinants of CVF remain unclear. Here we present the initial results from a g...