Bone Abstracts

Vertebral fractures (VF) defined by morphometric analysis of spine radiographs are the most common complication of osteoporosis. Those that come to medical attention, with symptoms such as back pain and kyphosis are termed clinical vertebral fractures (CVF) and account for significant morbidity and mortality. Although much progress was made in identifying loci for bone mineral density, the genetic determinants of CVF remain unclear. Here we present the initial results from a g...

Introduction: Paget’s disease of bone (PDB) is a common disorder characterised by increased and disorganised bone remodelling. Previous genome wide association studies identified a locus for susceptibility to PDB on chromosome 1p13, tagged by rs484959 which lies 87 kb upstream of the CSF1 gene. This is a strong candidate for PDB since it encodes macrophage colony-stimulating factor (M-CSF) a critical cytokine for osteoclast formation and survival.Pu...

Background: Paget’s disease of Bone (PDB) has a strong genetic component and a candidate locus for the disease has been identified on chromosome 14q32, tagged by rs10498635 located within RIN3 (Albagha et al, Nat Genet 2011). RIN3 encodes a protein that acts as a guanine nucleotide exchange factor for Rab5b and Rab31. Here we investigated the candidacy of RIN3 as a predisposing gene for PDB.Methods: We studied expression of RIN3 by quantita...

The childhood obesity is a global epidemic. Some studies with pre-pubertal children reported a positive relationship between fat mass and bone. However, there are no available data on the influence of the nutritional status on parameters of quantitative ultrasound (QUS). The aim of this study was to evaluate the influence of nutritional status in bone mass assessed by QUS of proximal phalanges in girls. The bone mass parameter, amplitude dependent speed sound (AD-SoS) in meter...

Background: Primary tumoral calcinosis is an orphan disease. The data about the incidence of this disease, as well as clinical recommendations for treatment are not presented in the literature.Presenting problem: Two patients – 11.5 years old boy and 8 years old girl with primary tumoral calcinosis had multiple foci of the subcutaneous calcification, walking impossibility, wheel-chair condition, fatigue, high fever and equinus deformity of the left ...

Background and Objectives: Rheumatoid arthritis (RA) is a chronic disease characterized by severe bone destruction which has been associated with altered lipid metabolism. Apolipoprotein E (Apo E) is a lipoprotein mainly produced by macrophages. ApoE has been described as crucial in lipid metabolism but also as an important anti-inflammatory mediator regulating innate immunity and bone turnover. In the present study we investigated the role of Apo E in bone destruction during ...

Paget’s disease of bone (PDB) is a common disease characterised by focal abnormalities in bone turnover. Previous GWAS identified a susceptibility locus for PDB on chromosome 15q24 tagged by a coding SNP rs5742915 (p.Phe645Leu) located in PML. The aim of this study was to fine map this locus to identify functional genetic variants that predispose to PDB using targeted DNA sequencing and functional analysis in bone cells.A 200 kb region surr...

Introduction: Recent data suggest that imbalances in lipid metabolism affect bone cell function resulting in osteoporosis. Here, we investigated the role of apolipoprotein E (ApoE), essential component of chylomicron and very low density Lipoprotein metabolic pathways, in the regulation of osteoblast and osteoclast function and thus in the pathogenesis of osteoporosis.Material and methods: We used apoE deficient (ApoE−/−) and wild ...

Introduction: Recent data suggest that lipid metabolism imbalances affect bone cell function and therefore may result in the development of osteoporosis. We investigated the role of apolipoprotein-E (ApoE), a plasma protein playing cardinal role in lipoprotein metabolism, in the regulation of osteoblast and osteoclast function and the pathogenesis of osteoporosis.Material and methods: We used apoE deficient (ApoE−/−) and C57BL/6 (c...

The main cause of the bone destruction in rheumatoid arthritis (RA) is a destructive act of aggressively growing pannus, growth and angiogenesis of which are caused by the proliferation of fibroblasts in the synovium (S) due to the activation of fibroblast growth factor (FGF).Objectives: To reveal relationships of FGF with ultrasonic and arthroscopic and proliferative-destructive histological figures in RA.Methods: Complete compreh...