Bone Abstracts

Objectives: There are many factors leading to poor bone health and imbalanced body composition in bone marrow transplant (BMT) recipients. We aimed to report our patients’ profile and to correlate it with clinical parameters.Methods: Cross-sectional study of paediatric BMT patients. Assessment of growth (height, weight, BMI) and dual-energy X-ray absorptiometry (DXA) for evaluation of bone mineral density (BMD) and geometry, muscle and fat mass. All...

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...

Optineurin (OPTN) is a protein encoded by the OPTN gene. This protein is involved in several cellular mechanisms such as autophagy, NF-κB signaling, cellular morphogenesis, membrane and vesicle trafficking, and transcription activation. Mutations in OPTN have been described in glaucoma, amyotrophic lateral sclerosis and other neurological diseases. More recently, a polymorphism in this gene was also identified by a genome wide association study to be ass...

Background: Pycnodysostosis (PDO) is a rare autosomal recessive high bone mass disorder caused by absence of active cathepsin K, which is a lysosomal cysteine protease that plays an important role in degrading the organic matrix of bones. In spite of open fontanelles, raised intracranial pressure has been reported in children with PDO.Presenting problem: We describe a 13-year-old boy with PDO who developed raised intracranial pressure (ICP) which led to ...

Background: Gorham Disease is a rare condition characterised by massive osteolysis. The pathophysiology is related to angio/lymphatic proliferation within bone. No genetic transmission has been identified and onset occurs in patients of all ages. Surgical fixation of the spine may be unsuccessful due to progressive osteolysis of bone surrounding the metalwork, or of the bone graft.Presenting problem: An 11 year-old boy presented with a 2 year history of ...