Bone Abstracts

Autotaxin (ATX) is a secreted protein produced by various tissues in the body including the liver, adipose tissue and bone. Autotaxin (ATX) is an enzyme with a phospholipase D activity responsible for cleavage of lysophosphatidyl-choline (LPC) in lysophosphatidic acid (LPA). LPA is a bio phospholipid, which acts as a growth factor, affecting proliferation, differentiation, and migration. It has been shown that the biological effect of LPA could be the direct consequence of loc...

We have previously shown a high prevalence of vitamin D inadequacy (serum 25-hydroxyvitamin D (S25(OH)D) <50 nmol/l) in adolescents (14–18 years) in the UK (51°N)(1). It is well recognised that vitamin D deficiency (S25(OH)D <25 nmol/l) increases the risk of rickets and impaired growth in adolescents, however the optimal vitamin D status for bone health is debated. The aim of this study was to investigate the effects of vitamin D status on bone hea...

Background: 3M syndrome is a primordial growth disorder caused by mutations in CUL7, OBSL1 or CCDC8. Affected individuals have severe short stature for which growth hormone (GH) therapy may have a role1. We present a 10-year-old girl from Sri Lanka with 3M syndrome-2 due to a mutation in OBSL1 gene, with good short-term response to growth hormone therapy.Presenting Problem: The only child of second-degree consanguineous parents, both themselve...

Objectives: We recently demonstrated that cow’s milk allergic infants who received an amino acid-based formula (AAF) for 16 weeks as oral feeding had adequate mineral status (1). One factor that may negatively affect mineral solubility and bioavailability and hence mineral status, is high gastric pH (2), but data on this in infants are lacking. Therefore, the present study evaluates serum concentrations of phosphorus, calcium and magnesium in a subgroup of infants on AAF ...

Inflammatory joint diseases like rheumatoid arthritis (RA), as well as other rheumatic conditions such as ankylosing spondylitis and systemic lupus erythematosus, comprise a heterogeneous group of joint disorders that are all associated with extra-articular side effects, including bone involvement. Disease activity, immobility and treatment with (high dose) glucocorticoids are the main factors that increase the risk of osteoporotic fractures, on top of the background fracture ...

Experimental studies in animals indicate that particular maternal exposures during pregnancy can have specific effects on body composition in the offspring, with long-term implications for subsequent metabolic phenotype and cardiovascular risk. In animals the environment during early life induces altered phenotypes in ways which are influenced or mediated by epigenetic mechanisms, but until recently there has been little direct evidence in humans and understanding of which dev...

Introduction: The quantification of cortical BMD and thickness in QCT images remains challenging due to the limited spatial resolution of CT scanners. We simulated the impact of longitudinal cortical BMD and thickness changes on accuracy of cortical measurements using three different segmentation algorithms.Methods: A step function of varying width d (cortical thickness) and height (cortical BMD) and an additional step representing trabecular BMD was con...

In 1999 Mundy et al. showed that simvastatin, a drug administered for high cholesterol levels, had a profound stimulatory effect on osteoblasts. Since then other studies have also confirmed that simvastatin enhances bone formation; however, the lack of a local delivery system have restricted its clinical use. We have used premixed acidic calcium phosphate cement as a local delivery system for simvastatin. To confirm that the simvastatin released retained its activity,...

RANKL induced osteoclastogenesis is mediated by several transcription factors such as NF-κB, AP-1 and Nfatc1. We have found that also cysteine proteinases are involved in the signaling pathway downstream RANK. Thus, cystatin C, Z-RLVG-CHN2 (the sequence of which is based upon one of the enzyme inhibitory domains in cystatin C) and the fungal molecule E-64 – inhibit RANKL induced mouse and human osteoclast formation in vitro (Strålberg et ...

The aims of this study were to establish the prevalence of the high bone mass (HBM) phenotype in a cohort of Spanish postmenapausal women (BARCOS); to determine whether any of the HBM cases carry LRP5 or DKK1 mutations; to test the hypothesis of an inverse correlation between the number of common variant risk alleles and HBM; and to characterize the expression of osteoblast-specific and Wnt pathway genes in primary osteoblast RNA samples from two HBM cases.</...