Bone Abstracts

We report a male child presenting with antenatally diagnosed bilateral talipes equinovarus, short stature, bilateral cryptorchidism and poor weight gain; born at 39 weeks gestation (birth weight 2.56 kg) to non-consanguineous Caucasian parents. Facial dysmorphism included a prominent forehead, brachycephaly, shallow orbits, a high anterior hairline, a narrow nasal bridge and small mouth with a thin upper lip. He had white sclera and was short for height (−4.4 SDS) with a...

Objective: To examine the bone mineral density (BMD), fracture occurrence and history in a cross-section of subjects with Pelizaeus Merzbacher Disease (PMD).To describe the effect of pamidronate therapy on BMD over time in treated PMD patients.Methods: We examined the medical history, medications, level of ambulation, fracture history and DXA results in 15 boys with PMD. Body sites scanned included whole body (WB) when possible, lu...

Less than one-third of osteoporotic vertebral fractures are correctly identified and managed. This is due to a variety of reasons including lack of clear clinical triggers of who to refer for diagnostic spinal radiographs. However, there is increasing evidence for strategies to identify which older people have existing vertebral fractures. One such strategy combines four clinical triggers in a screening tool that has been shown in a large RCT to effectively increase appropriat...

There is evidence from case-control and prospective cohort studies that low bone volumetric density is a risk factor for fractures in children and adolescents, and the size of effect is similar to that seen in postmenopausal women. Bone density and size is important even in childhood fractures due to moderate or severe trauma. However, there are determinants that may influence fracture risk through other pathways than bone fragility. These include gender, ethnicity, obesity an...

Biographical DetailsI am a Consultant Senior Lecturer in Rheumatology at the University of Bristol, UK. My research area is Musculoskeletal Epidemiology, with a particular interest in the role of bone mass in determining fracture risk in children and adolescents. Other areas of interest are the epidemiology of hypermobility and scoliosis in adolescents, and identification of osteoporotic ...

In prostate cancer TGFβ promotes invasion and metastatic potential. One well-known cellular source of TGFβ in the bone metastatic site is the bone-forming osteoblasts. Here we have studied the effects by human osteoblast-derived factors on metastatic potential in cells from the human bone metastatic prostate cancer cell line PC-3U and the primary prostate cancer cell line 22Rv1. Osteoblast-derived factors resulted in a morphological effect with an increase of long ce...

Osteoclasts are the only cell type capable of resorption of mineralised matrix such as bone or dentine. Resorbing osteoclasts form distinct membrane domains: the functional secretory, the basolateral and the ruffled border (RB) domains. The RB allows acidification of the resorption lacuna, exocytosis of osteolytic enzymes and uptake of degraded bone material, processes that require directed vesicular transport. Few studies have tried to classify the vesicles near the RB into s...

Background: Scoliosis is lateral curvature of the spine ≥10°, as measured on standing spinal radiographs. There are no published studies that have investigated determinants of scoliosis using a prospective cohort design, making the establishment of cause and effect difficult. Several large population-based cohorts exist throughout the world with a wide range of data already collected, and while spinal imaging with radiographs is not generally collected in these coho...

Background: Scoliosis is lateral curvature of the spine, and adolescent idiopathic scoliosis (AIS) accounts for the majority of cases of scoliosis. One potential determinant of scoliosis that is of great interest is bone size and density. However, there are no published studies that have investigated determinants of scoliosis using a prospective cohort design making the establishment of cause and effect difficult.Methods: This study was based on the Avon...

Extreme high bone mass (HBM) may be monogenic (e.g. LRP5 mutations) or polygenic, due to variants in the same genes determining bone mineral density (BMD) as found in the general population. We aimed to determine how variation in established BMD loci, in different functional pathways, explains the HBM phenotype.241 unexplained HBM cases (lumbar spine(LS)1+total hip(TH) Z-scores≥+4.4) were recruited from 15 UK centres, by screening...