Bone Abstracts

Background: Weyers acrofacial dysostosis (WAD, OMIM 193530) is a rare autosomal dominant disease, characterized by mildly short stature, postaxial polydactyly, nail dystrophy and dental anomalies. WAD should be distinguished from Ellis-van Creveld syndrome (OMIM 225500), a similar but more severe disease, comprising chondrodysplasia, orofacial anomalies and, in a proportion of patients, cardiovascular malformations. Both diseases are caused by mutations in either EVC or EVC2<s...

Objective: To define, by expert consensus, the criteria for the application of a Treat-to-Target (T2T) strategy in osteoporosis, in Spain, and to assess the adequacy of current treatments for it.Material and methods: Six Spanish experts in osteoporosis formed the Scientific Committee that led the project and designed the questionnaire used in two Delphi rounds. The 24 items included in the questionnaire assessed the experts’ wish (W) and prognosis (...

Multiple Myeloma (MM) is a malignancy of Plasma Cells (PC), characterized by severe osteolytic lesions but poor 99Tc-MDP uptake in bone scans due to osteoblast inhibition. We hypothesized that high demands for membrane biosynthesis in tumour PC would enhance monocarboxylic acid anabolism and uptake, which could be exploited for treatment and molecular imaging. Here, we tested the efficacy of clinically available 11C-Acetate PET to detect myeloma and quant...

Objective: To define, by expert consensus, the criteria for the application of a Treat-to-Target (T2T) strategy in osteoporosis, in Spain, and to assess the adequacy of current treatments for it.Material and methods: Six Spanish experts in osteoporosis formed the Scientific Committee that led the project and designed the questionnaire used in two Delphi rounds. The 24 items included in the questionnaire assessed the experts’ wish (W) and prognosis (...

Adiponectin has recently been shown to influence skeletal metabolism. Over-expression of adiponectin gene suppresses bone resorption and increases trabecular bone mass. Bone marrow stromal cells from adiponectin-null mice had reduced mineralized nodule formation ability compared with wild type mice. Adiponectin, signalling via the adiponectin receptor 1 (AdipoR1) stimulates osteoblast differentiation and inhibits osteoclastogenesis. We have shown that the globular for...

The role of the WNT pathway in skeletal maintenance has been extensively studied since the identification of mutations in key signaling WNT mediators (LRP5 and sclerostin) in high and low bone mass phenotypes. However, the identity of the key WNT ligand that signals via LRP5/6 has remained unknown. We aimed to identify genes with a major effect on the skeleton by studying individuals and families with early-onset osteoporosis or osteogenesis imperfecta (OI).<p class="abste...

Cadmium (Cd) is regarded as a risk factor for various bone diseases in humans and experimental animals. To compare effects of different routes of Cd administration on femoral bone structure, ten 4-month-old male Wistar rats (group A) were injected intraperitoneally with a single dose of 2 mg CdCl2/kg body weight and killed 36 h after Cd had been injected. Ten 1-month-old male rats (group B) were dosed with a daily Cd intake of 30 mg CdCl2/l in drinking wa...

Our earlier results indicate that prenatal exposure to dexamethasone, synthetic glucocorticoid, may disturb metabolic processes in skeletal system with long-term consequences. Functional foods show a beneficial action that improve the state of health and reduce the risk of disease. The study was performed to determine whether 2-oxoglutaric acid (2-Ox) can abolish the growth inhibiting effect of prenatally administered dexamethasone (DEX) manifested in the growth plate and arti...

Objective: The enzyme methylenetetrahydrofolate reductase (MTHFR) is known to play an important role in the removal of circulating homocysteine via the methionine cycle. C677T polymorphism is associated with higher plasma homocysteine levels, which could affect collagen maturation. The aim of the present study was to examine possible associations of C677T polymorphism in the MTHFR gene with a variability of femoral (F-BMD), spinal BMD (S-BMD) together with circulating...

Bone mineralization is initiated by matrix vesicles (MVs), cell-derived structures released into the extracellular matrix which are nucleation sites for hydroxyapatite (HA) formation. It is suggested that annexins are mineralization-stimulating membrane proteins that exhibit ion channel activity and facilitate the influx of Ca2+ into MVs. The process is also regulated via enzymatic degradation of inhibitory pyrophosphate by tissue-nonspecific alkaline phosphatase (T...