Bone Abstracts

The last years, diagnosis of achondroplasia benefited of the recent advances in prenatal imaging (including 3T-CD scan), and in invasive and non-invasive molecular screening.Objectives: To analyse stage/age, diagnosis procedures and outcome on a series of 64 consecutive cases of achondroplasia, in the French Centre of Reference for skeletal dysplasia, between 2008 and 2016.Methods: Confirmed achondroplasia were included in this sin...

Vertebral fractures (VF) in adults are the most common osteoporotic fracture, are powerful predictors of future fracture risk (hip X2; spine X5) and their prevalence increases as bone mineral density (BMD) declines. The most common imaging method for diagnosis is spinal radiography, but they can be identified fortuitously also on other imaging techniques performed for various clinical indications.1 Midline reformations of multi-detector CT (MDCT) scans of thorax and...

Cherubism is a rare genetic disorder characterized by extensive growth of a bilateral granuloma of the jaws, resulting in facial disfigurement.Histologically, the lesions consist of a fibrotic stroma with osteoclastic-like multinuclear giant cells (MGC). Cherubism is caused by gain-of-function mutations in the SH3BP2 protein. SH3BP2 is an intracellular adaptor protein positively regulating the activity of the nuclear factor of activated T-cells c1 (NFATc...

Objectives: Cross-sectional studies show that exercise may have positive effects on bone outcomes in youth. However, there is no evidence from longitudinal studies, which type of sports can induce improvements in bone acquisition in adolescent athletes. Therefore, this study aimed to investigate the longitudinal differences in bone acquisition and bone metabolism between adolescent males participating in osteogenic (football) and non-osteogenic (swimming, cycling) sports compa...

The switch from a cartilage template to bone during endochondralossification of the growth plate requires dynamic and close interaction between the cartilage and the developing vascular structures. Vascular invasion of hypertrophic cartilage, with blood vessels coming from the bone collar, serves to bring in osteoblast- andendothelial precursor cells along with chondroclasts and their precursors into future ossification centres of the growth plate.Potent...

Glycosphingolipids (GSL) are essential structural components of mammalian cell membranes and lipid rafts that exert pleiotropic effects on cell survival, proliferation, and differentiation. Cancer associated GSL have been shown to promote tumor growth, angiogenesis, and metastasis; however their role in osteoclast (OC) activation and the development of osteolytic bone diseases such as multiple myeloma are not known. We investigated the hypothesis that GSL contribute to OC acti...

Osteogenesis imperfecta (OI) type V is caused by a unique dominant mutation (c.−14C>T) in IFITM5, which encodes BRIL, a transmembrane ifitm-like protein most strongly expressed in osteoblasts, while type VI OI is caused by recessive null mutations in SERPINF1, encoding pigment epithelium-derived factor (PEDF). We identified a 25-year-old woman with severe OI, whose dermal fibroblasts and cultured osteoblasts displayed minimal secretion of PEDF, but ...

Individuals with type 1 diabetes have over a sixfold increased risk of sustaining a hip fracture compared to the general population. Despite this, bone fragility is not recognized as a classic diabetes-related complication and many diabetes guidelines make no mention of fracture prevention or bone health.We studied bone health in a population of patients with known type 1 diabetes being followed by endocrinologists at an academic centre. Patients filled ...

Introduction: Denosumab monoclonal antibody approved for Osteoporosis’s treatment in Europe union and U.S.A. Dose of 60 mg every 6 months reduces the risk of vertebral, non vertebral and hip fractures. What is more increases BMDMaterial and methods: Descriptive observational study with densitometric characterisques and risk factors of 64 patients in Osteoporosis unit of HGUG Marañón from November 2011 to December 2013. Analyzing occurrence...

Background: Osteogenesis imperfecta (OI) is a hereditary connective tissue disorder characterized by increased bone fragility and low bone mass. The different types of OI may be distinguished by their clinical features and the causative genes, with COL1A1 and COL1A2 genes as the most frequent. The guidelines for OI genetic diagnosis first recommends the screening of COL1A1 and COL1A2 genes using Sanger sequencing. However, this method has li...