Bone Abstracts

TGFβ is a family of ubiquitous growth factors that play a prominent role in bone biology. In normal bone remodeling, TGFβ1 released from the bone matrix by osteoclasts, attracts mesenchymal stem cells to sites of resorption thereby ensuring that new bone restores eroded older bone. TGFβ also promotes osteoblast proliferation but later restricts osteoblast maturation by repressing the expression of genes involved in bone formation. Recent evidence has demonstrate...

Introduction: Vascularised fibula autograft combined with a massive bone allograft (Capanna 2007) is used in skeletal reconstructions in children. If vascularisation is successful a clear remodelling of the reconstruction can be observed. This study aims to define a protocol to characterise bone’s structural evolution in skeletal reconstructions through a computer-aided analysis, and attempts a biomechanical interpretation of the observed phenomena through a multiscale mo...

Introduction: Benign osteopetrosis type 2 (OPTA2) (Albers-Schönberg disease) is usually associated with a heterozygous mutation in CLCN7. Patients may be asymptomatic and present following an x-ray taken for other reasons or with a low trauma fracture. There may be a family history. Homozygous mutations in CLCN7 usually result in severe disease which presents in the neonatal period or early infancy. We present a case of benign osteopetrosis associated wi...

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...

Introduction: Aging, diabetes and other disease conditions are associated with the accumulation of non-enzymatic collagen cross-links (NE-XL) in human tissues. Non-enzymatic cross-links (i.e. advanced glycation end products (AGEs)), occur at the bone collagen level, where they are associated with individuals increased fracture risk caused by bone’s reduced plasticity.Methods: Here, non-destructive Fourier-transform infrared (FTIR) spectroscopy was u...

Aim: Magnetic Resonance guided Focused Ultrasound Surgery (MRgFUS) is an invasive treatment able to control local disease and pain of bone tumors. Unfortunately, there is not any scientific evidence of the biological effect of MRgFUS treatment on tumor cells, especially in lower dose region, where tissues are only warmed to sub-lethal temperatures. Here we investigate the effect of in vitro MRgFUS treatment, at different levels of acoustic energy (200–630 J), on ...

Introduction: Mitochondrial dysfunction is associated with several clinical outcomes including diabetes and myopathy and is implicated in the human aging process. We previously showed that the mitochondrial DNA point mutation mtDNA3243A>G is associated with lower BMD and altered bone structure. The aim of this study was to assess bone turnover markers in individuals with the mutation and controls.Methods: We recruited 45 patients (29 female, 16 male)...

Objective: To emphasize the clinical importance, and quantify the degree of underreporting of vertebral fractures (VF) with and without edema on spinal magnetic resonance (MR) imaging.Methods: All spinal MR images obtained for patients ≥45 years, hospitalized from 1/6/2014 to 31/12/2015 at a single tertiary-care institution, were retrospectively reviewed to identify prevalent VFs. VF and fracture severity were classified using Genant’s method....

Objectives: Postural balance and gait speed are risk factors for falls and hip fractures independent of bone mineral density (BMD). The standard risk assessment tool, FRAX, does however not include any estimate of fall risk. Identifying high-risk individuals correctly is be of great clinical importance why further improvement of FRAX would be clinically valuable. The primary aim of this study was to see if one-leg standing time, the maximum number of steps on a line or gait sp...

Objectives: Gorham-Stout disease (GSD) is a very rare disorder characterized by extensive angiomatous proliferation and progressive osteolysis without new bone formation. Only ~200 patients were reported. The quality of life is very poor since patients display pain, fractures, functional impairment and swelling of the affected regions. The ethiology of GSD is unknown. We aim to investigate the bone phenotype and to identify molecular and cellular defects in GSD patients.<p...