Bone Abstracts

Objective: Classical homocystinuria due to cystathionine beta-synthase (CBS) deficiency, is a rare autosomal recessively inherited disease characterized by the multiple involvement on different organs. While the most striking cause of morbidity and mortality is thromboembolism, patients develop a marked osteoporosis at early age along with many other skeletal abnormalities. As CBS normally converts homocysteine to cystathionine, the result of CBS deficiency is an accumulation ...

ADO2 is a debilitating genetic bone disease causing multiple fractures and other severe symptoms. A mouse model of ADO2, harbouring the heterozygous Clcn7G213R gene mutation, phenocopies the human syndrome. The Clc7 gene encodes the ClC7 dimeric 2Cl−/1H+ antiporter that is almost ubiquitously expressed, although the mutations hit especially the osteoclasts impairing bone resorption. By immunofluorescence, we observed that the mutant ClC7 ...

Up to half of women treated with an aromatase inhibitor (AI) for breast cancer develop muscle weakness, bone loss, and joint pain. Moreover, an elevated state of osteoclastic bone resorption has been shown to prime the bone microenvironment in ways that accelerate metastatic growth. We hypothesized that AI-induced bone loss could increase breast cancer progression in bone and exacerbate muscle weakness associated with bone metastases. Four-week female athymic nude mice underwe...

Objective: To assess the effect of mechanical loading in anorexia nervosa (AN) in vivo, by comparing bone geometry and microarchitecture in weight bearing versus non-weight bearing bone.Subjects and methods: A total of 26 female patients with AN, and 26 female controls matched on age and height were included. Bone geometry, volumetric bone mineral density (vBMD) and microarchitecture were assessed using HR-pQCT (Scanco Medical, Brütisellen,...

Hydrogen sulfide (H2S) is a gaseous molecule produced endogenously in mammalian cells. H2S was recently found to play important roles in the regulation of inflammation, redox homeostasis and cell lifespan. Moreover, H2S was shown to maintain mesenchymal stem cell (MSC) function and stimulate osteogenic differentiation of MSC. However, it is unclear whether H2S plays any role in the bone loss induced by estrogen deficiency.<p clas...

Bone tissue homeostasis requires the coordinated activity of osteoblasts, the bone forming cells, of osteoclasts, the bone resorbing cells, and of osteocytes, generally referred as the bone mechano-sensors. In this contest, osteoblasts are the mesenchymal cells secreting the extracellular matrix components on which hydroxyapatite crystals are then deposited. The most abundant protein of this organic matrix is type I collagen, a heterotrimeric secretory protein, synthesized as ...

Background: Mutations in the SCN8a gene, which encodes one of the most abundant voltage gated sodium channels; Nav1.6, has a strong association with epileptic encephalopathy type 13, ataxia, muscle atrophy and intellectual disability. Previous cases of pathological skeletal fractures in children with known SCN8a mutations have been published but the source of the related skeletal mechanism remains unclear.Presenting problem: The proband presented at 15mo...

It has suggested that BGP is inversely related to body fat. BGP appears to regulate energetic metabolism through the insulin receptor signaling pathway in the osteoblast, which affects bone resorption and BGP activity. Fat tissue is an endocrine organ that secretes different hormones and growth factors; several of them affect bone remodeling and insulin secretion. The present report comparatively studied total BGP levels, glucose homeostasis and body fat mass in spontaneous ob...

Introduction: Currently, the only available method to reliably predict osteoporotic fractures is represented by bone mineral density (BMD) measurements on proximal femur or spine, which require the use of X-rays. Aim of this study is to illustrate working principles and feasibility of a new ultrasound (US) method for bone densitometry and osteoporosis diagnosis applicable on both proximal femur and spine.Methods: A new fully automatic algorithm was devel...

Introduction: Lymphoblastic leukemia is the predominant form of childhood malignancies with survival rates of >80%. Late effects of cancer and treatment can affect endocrine function and may account for acute and chronic impairment of bone health.Aim and design: To assess bone health in pediatric patients after therapy for lymphoblastic leukemia we initiated a clinical trial investigating clinical and biochemical parameters of growth, puberty, bone t...