Bone Abstracts

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...

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 ...

Objectives: This study analysed prospective associations between two distinct developmental trajectories of objectively-measured physical activity and late adolescent bone parameters (age 17 yr) by exploring the mediating effects of lean soft tissue (LST), a surrogate of muscle mass.Methods: In approximately 349 participants (191 girls) of the Iowa Bone Development Study, physical activity was measured by accelerometry starting at age 5 and continuing at...

Aim: Scoliosis is a common skeletal problem affecting 10–30% of patients with neurofibromatosis type 1 (NF1). NF1 patients have been shown to have reduced bone mineral density (BMD) which may play a role in the pathogenesis or progression of scoliosis. Our centre is one of four international centres currently evaluating the efficacy of various spinal imaging techniques and BMD as predictors for scoliosis in NF1. In our cohort we measured the lumbar spine (LS) BMD both by ...