Bone Abstracts

Background: Mutations in the ENPP1 gene have been identified in individuals with generalized arterial calcification of infancy (GACI), a life-threatening disorder characterized by calcification in the blood vessels, because of reduced availability of pyrophosphate. We describe a case of GACI due to a novel ENPP1 mutation.Presenting problem: The patient, born at term to non-consanguineous parents, was referred to us at birth with weak femoral pulses for e...

Fibrous dysplasia is a mosaic disease resulting from post-zygotic activating mutations of the GNAS locus which codes for the α subunit of the Gs G-coupled protein receptor. In bone, impaired signalling results in impaired differentiation and proliferation of bone marrow stromal cells which are replaced by fibrous tissue resulting in bone fragility and dysplasia. All children diagnosed with Fibrous Dysplasia at The Royal National Orthopaedic Hospital since 2009 (103 childr...

Introduction: Wnt/β-catenin signalling and mechanical loading are able to inhibit adipogenesis and to stimulate osteoblastogenesis of mesenchymal stem cells1,2. The involvement of β-catenin signalling in mechanically induced bone formation has already been shown in vivo using a tibia loading model3. The aim of this study was to investigate the influence of the activation of β-catenin on the osteogenic and adip...

Celiac disease (CD) is a frequent cause of malabsortion in childhood and affects calcium and vitamin D absorption.Aim: Analyze the vitamin D levels and bone mineral density (BMD) at diagnosis in patients affected with CD, and the influence of the age of diagnosis in the clinical presentation.Patient: 52 patients (female: 26) were evaluated.Results: The percentage with vitamin D deficiency (<20 ng/ml) was ...

Dysfunctions of Wnt/β-catenin and estrogen receptor signalling resulted in impaired mechanotransduction and bone loss as in osteoporosis. Previous studies demonstrated the interaction of these pathways in mechanotransduction in vitro and in vivo. In this study, the influence of the activation of estrogen receptor and β-catenin signalling on mechanically induced bone formation was investigated in ovariectomized mice. 12-week-old mice were ovariectomi...

Brain-derived neurotrophic factor (BDNF) has recently emerged as a factor able to concurrently target age related diseases as neurodegenerative disease, osteoporosis and metabolic syndrome. However the role of BDNF in the frailty syndrome associated with aging has never been investigated. The deletion of central BDNF gene in mice results in increased bone mass and in vitro experiments show that BDNF has a positive effect on bone. BDNF expression is mediated by estroge...

Osteocalcin, the neurotrophins BDNF/NGF and Oxytocin(Oxt) have pleiotropic effects on energy metabolism, bone mass, reproduction and brain functions suggesting a coordinated regulation. The carboxylated osteocalcin(Ost) acts on bone, while the uncarboxylated Ost shows hormone-like actions. NGF regulates female fertility elevating LH, Ost−/− mice show high LH in spite of decreased testosterone. BDNF/NGF-Oxt-Ost interactions was investigated by RT-PCR meas...

Introduction: Collagen and glycosaminoglycans (GAGs) such as hyaluronan (HA) and chondroitin sulfate (CS) are basic elements of bone structure and collagen-GAG composites are currently developed for a wide range of applications. Here, we report on the molecular and cellular effects of GAGs and their sulfated derivatives on osteocytes, which are fundamental orchestrators of bone remodeling.Materials and methods: The effects of native and sulfate-modified ...

Despite the presence of skeletal anomalies in fetuses of female rats treated with caffeine, their effect on bone’s formation and growth have not yet been elucidated. The objective of this study was to evaluate the effects of caffeine on the formation and endochondral bone growth in rats. There had been used 36 Wistar rats distributed among the control group and others treated with caffeine at doses of 25, 50, and 100 mg/kg. Treated groups received caffeine daily throughou...

Introduction: Vertebroplasty (VP) and ballon kyphoplasty (BKP) are used in the treatment of the vertebral compression fractures (VCF), that usually result in a typical wedged deformation. It is still under debate which technique is the best, in terms of efficacy, costs, and safety, mainly about the risk of a adjacent new fractures. The aim of this study is to evaluate the biomechanical outcome of vertebroplasty and kyphoplasty by a computational comparative analysis with finit...