Bone Abstracts

Background: Eosinophilic granuloma (EG) typically affects children in the first two decades of life, mainly involving vertebrae and long bones. This study presents the first –to the best of our knowledge - case of a unifocal EG of the femur, successfully treated with percutaneous image-guided radiofrequency ablation (RFA), which was monitored pre- and post-ablation with MRI-scans to validate the efficacy of this method.Presenting problem: A 16-year-...

Introduction: Biopsy is a milestone in the diagnosis and treatment of skeletal lesions. Closed core-needle biopsy under computed tomography (CT) guidance is the gold standard. Open biopsy on the other hand may lead to more secure diagnosis.Objectives: Aim of this retrospective case-series study was the review of all biopsies (closed and open) performed at our department during the last eleven years in children suffering from bone tumours and the evaluati...

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...

Introduction: Myostatin (growth differentiation factor 8, GDF-8) has an important role in the regulation of muscle mass, and mice lacking the myostatin gene show a generalized increase in bone density and strength. Type 2 diabetes subjects have an increased risk of fragility fractures despite of higher bone mass. Taking into account the myostatin influence in bone strength a better understanding of myostatin actions in type 2 diabetes is of interest.Obje...

Background: Vitamin D deficiency is highly prevalent and can be associated with adverse health outcomes. Few studies have evaluated the effects of daily consumption of milk fortified with a high dose of vitamin D in a large cohort of healthy postmenopausal women.Objectives: To determine the effect of daily intake of milk enriched with vitamin D (with or without fructooligosaccharides (FOS)) on vitamin D status, bone mass and cardiovascular risk factors.<...

Objectives: Bone mass development through childhood is very important for osteoporosis prevention during adulthood. Physical activity (PA) and/or exercise can influence positively bone matrix and its contents in pre-adolescents Sclerostin, a glycoprotein produced by osteocytes, promotes osteoclastic activity and it is associated with reduced bone formation. The purpose of this study was to describe the relationship between PA and sclerostin levels in pre-adolescent boys and gi...

Polyphosphates (polyPs) are inorganic phosphate chains found in many cell types with higher concentrations in bone cells. As a source of inorganic phosphate (Pi) and an effective calcium reservoir due to chelation, PolyPs enable total Ca2+ and PO42− concentrations above those required for apatite saturation. Alkaline phosphatase (ALP) cleaves Pi from polyP, thus polyPs may be involved in apatite mineralization.Aim: ...

Autosomal dominant osteopetrosis type 2 (ADO2) is a rare genetic disease due to reduced osteoclast function. Clinical manifestations are variable, and in some cases the symptoms, including frequent fractures, osteomyelitis, hematologic and neural failures, are already evident during childhood and worsen with age. In 70% of cases, ADO2 is caused by heterozygous dominant negative mutations of the CLCN7 gene, encoding the Cl−/H+ antiporter type 7. We hypothesized that silen...

Breast to bone metastasis is a common incurable event during breast cancer progression. Identifying the molecular mechanisms at play is vital for the development of new therapies. Matrix metalloproteinases, such as MMP-2, are overexpressed in the bone metastatic microenvironment. Genetic ablation of MMP-2 demonstrated its importance of in driving osteolytic bone metastatic breast cancer and support the rationale for the development of a highly specific MMP-2 inhibitor for the ...

Objectives: ADO2 is a genetic bone disease induced by dominant negative mutations of the proton/chloride antiporter ClC7 encoded by the CLCN7 gene. In osteoclasts, ClC7 is crucial for lysosome function and resorption lacuna acidification. However, Clcn7 is expressed in several cell types in various organs, including brain, lungs, kidneys and spleen. Therefore, we asked whether Clcn7 mutations could affect other tissues beyond the bone.<p class="a...