Bone Abstracts

In a meta-analysis by Estrada et al. (2012), 56 loci were found associated with BMD, 14 of which were also associated with osteoporotic fracture. Several of these genes belong to the Wnt signaling pathway, including two inhibitors: DKK1 and SOST.To better understand the role of these genes in BMD determination and fracture susceptibility, we aimed to explore their allelic architecture by resequencing all coding exons and flanking region...

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Background: Besides the classic actions of vitamin D on bone metabolism and calcium homeostasis, there is evidence emphasizing its antiproliferative and proapoptotic activities. Data coming mostly from Northern regions suggest an effect of 25-hydroxyvitamin D (25(OH)D) serum concentrations on breast cancer prevention. We aimed to study the association between 25(OH)D concentrations and breast cancer risk in a Mediterranean population (Spain).Methods: We ...

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.</...

There is a growing evidence of the association between HIV infection and fracture risk. Independently of its cause (antiretroviral therapy (ART) or HIV), what remains most important is a prompt diagnosis. Although densitometry is the gold standard, sometimes this technique is not as accurate as necessary in clinical practice. A new validated tool for early and more accurate diagnosis is presented.MethodsIn a HIV group of patients, ...

Multiple myeloma is characterized by extensive bone marrow tumour and destructive osteolytic lesions. Both increased bone resorption and suppressed bone formation result in lesions and pathological fractures. Anti-resorptive therapies prevent further bone loss but patients continue to fracture, arguing for new therapies which increase bone strength. Anti-Sclerostin (Anti-Scl) is a potent stimulator of bone formation, is currently in clinical trials for osteoporosis, however it...

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...

Introduction: Bisphosphonates are the first-choice treatment for osteoporosis. However, the efficacy observed in clinical trials may not be realized in a real-life setting, partly due to poor adherence to therapy, with a significant worsening of clinical outcomes. The aim of this study conducted on an outpatient cohort is to quantify the adherence to the osteoporosis treatment in real practice setting and to identify the factors that may affect it.Materi...

Background: A 9-month-old boy was diagnosed with rickets at the age of 6 months. He was born at term in India, following a normal pregnancy. Mother had taken folic acid and calcium, but not vitamin D, as this is the policy for pregnancy vitamins in Kerala.Presenting problems: At 6 months of age he was seen for routine vaccination. The paediatrician noted a prominent forehead and swollen wrists. Wrist x-ray was said to show early rickets. Blood tests show...

Objectives: Cross-sectional studies show that exercise may have positive effects on bone outcomes in youth. However, there is no evidence from longitudinal studies, which type of sports can induce improvements in bone acquisition in adolescent athletes. Therefore, this study aimed to investigate the longitudinal differences in bone acquisition and bone metabolism between adolescent males participating in osteogenic (football) and non-osteogenic (swimming, cycling) sports compa...