Bone Abstracts

Objectives: Respiratory insufficiency is the leading cause of mortality for individuals diagnosed with Osteogenesis Imperfecta (OI), a skeletal dysplasia clinically characterized by fractures, bone fragility, and scoliosis. The objective of this study is to explore respiratory function and its relation to quality of life, type of OI, presence of scoliosis, stature, and other factors such as age or co-existing co-morbidities.Methods: Adults with OI comple...

Bisphosphonates (BPs) are used to treat bone diseases characterized by excessive bone resorption. However, BPs can negatively affect the jaw bone by causing osteonecrosis of the jaw. Previously, we showed that BPs differently affect long-bone and jaw osteoclast precursors. Administration of BPs in vivo reduced the number of jaw bone marrow cells, without affecting long-bone marrow cells. Yet, BPs increased bone volume and mineral density of both long bone and jaw. Her...

Background: Hypercalcaemia is a risk following stem cell transplant (SCT) for all types of autosomal recessive osteopetrosis (ARO) due to restored osteoclast differentiation. This can be particularly severe in the osteoclast-poor (OP) form involving the tumour necrosis factor receptor superfamily 11A (TNFRSF11A) gene, encoding RANK. Denosumab, a monoclonal antibody blocking RANK activation, has been described for refractory post-SCT hypercalcaemia in two cases. Our case adds n...

It is well-established that in vitro differentiation of embryonic stem cells (ESCs) and induced pluripotent stem cells (iPSCs) can recapitulate embryonic development through germ layer induction, enrichment and expansion of specific lineages. We have used PSC technology and developed a novel, mESC differentiation system for investigating the mechanisms of chondrocyte and osteoblast lineage commitment and differentiation. This step-wise, serum-free protocol uses specif...

The regions of the proximal femur that are at greater risk of structural failure during a fall are those with less adaptive protection promoted by mechanical loading of the activities of daily living. Considering the associations between bone geometry of the proximal femur with bone fracture risk, we intended to examine how geometrical characteristics of the proximal femur (FNL, femoral neck length; FNW, femoral neck width; NSA, neck shaft angle) moderate the effect of mechani...

Odanacatib (ODN), a selective and reversible cathepsin K inhibitor was shown to histomorphometrically reduce trabecular (Tb) and intracortical (Ic) bone remodeling while preserving endocortical (Ec) and stimulating periosteal (Ps) bone formation (BF) in monkeys. Here, we investigate the bone site specific mechanism of ODN on bone modeling (Mo) versus remodeling (Re)-based osteons. Rhesus monkeys (13–19 yrs, n=8–11/group) were ovariectomized and treated with ...

Cadmium (Cd) is a toxic heavy metal characterized by strong cumulative properties in the human and animals’ organism. Although cadmium accumulation in the bone tissue is lower than in soft tissues such as liver and kidney, the bone-accumulated metal, even at low concentrations, can damage the bone tissue directly. Polyphenols are compounds possessing hydroxyl groups capable of binding divalent metals, including toxic metals, preventing their absorption from the gastrointe...

Introduction: The etiology of Paget’s disease of bone (PDB) is not fully understood, but genetic factors play a clearly important role. Single nucleotide polymorphisms (SNPs) of OPTN gene within PDB6 locus have been highly associated with PDB, but no PDB causal mutation or functional effect on PDB development were reported to date. We aimed to identify functional SNPs associated with this bone disease.Methods: Relevant candidate genes from PDB6 locu...

Aim: To determine the prevalence of vitamin D deficiency among adolescent Muslim girls attending a school in the UK, which adheres to a conservative dress code.Methods: Fifty-six (31%) out of 180 girls attending a Muslim High School for Girls (median age 13.2years, (IQR 12.5–13.8 years)) took part in this cross-sectional study. Seventy-nine percent (n=45) were of South Asian origin, 3.5% were Black African origin (n=2), 1.8% was Mi...

OPTN seems to have an important role in bone metabolism by being part of NfkB pathway. CCDC3 is highly expressed in adipocytes and it seems to be negatively regulated by TNFa, however the mechanisms are not very clear. These genes have a ‘head-to-head’ orientation in the genome, which suggests that they might be regulated by a bidirectional promoter that coordinates the expression of both genes in different tissues. Using bioinformatic tools we analyzed the shared re...