Bone Abstracts

Objective: Cystinosis is a rare lysosomal storage disorder caused by loss-of-function mutations of the CTNS gene, encoding for cystinosin symporter that mediates cysteine efflux from lysosome. ~95% of cystinotic patients display nephropathic Fanconi’s syndrome, short stature, osteopenia and rickets. In this study we evaluated whether the absence of cystinosin primarily affects bone remodeling activity.Methods: We analyzed bone phen...

Introduction: Bisphosphonates are the first-choice treatment for osteoporosis. However, the efficacy observed in clinical trials may not be realized in a real-life setting, partly due to poor adherence to therapy, with a significant worsening of clinical outcomes. The aim of this study conducted on an outpatient cohort is to quantify the adherence to the osteoporosis treatment in real practice setting and to identify the factors that may affect it.Materi...

Introduction: Evidence in literature shows how is useful to use antiresorptive drugs such as bisphosphonates, in severe osteoporosi severe after PTH (1–34 or 1–84) treatment.Methods: This study was divided into two parts: the first one analyzed BMD changes by DXA at the lumbar and femoral and serum osteocalcin and β-CTX, monitoring their performance after 6, 12 and 18 months in 71 women with severe postmenopausal osteoporosis, treated for ...

Introduction: Teriparatide is a potent anabolic drug that has demonstrated efficacy on fracture risk reduction in women with severe postmenopausal osteoporosis. Denosumab, designed to inhibit RANKL (RANK ligand), is a fully human MAB for the treatment of osteoporosis. BMD changes, measured by DXA, is an established tool for monitoring the effects of anti-osteoporotic therapy. Our purpose is to compare teriparatide vs denosumab efficacy on hip BMD variations, in postmenopausal ...

Introduction: Denosumab, a fully human monoclonal antibody to RANK ligand, effectively reduces bone resorption by inhibiting RANK-L binding to RANK. We aimed to evaluate the efficacy of denosumab in post-menopausal women, by monitoring the evolution of different parameters of bone health: T-score, morphometry, osteocalcin and β-Ctx.Methods: A 34 women with severe postmenopausal osteoporosis, characterized by multiple vertebral fractures wer...

Objectives: Limited data exist on growth parameters in children with hypophosphatasia (HPP), a rare metabolic disease characterized by impaired bone mineralization. We aimed to describe growth characteristics in untreated children with HPP enrolled in the Global HPP Patient Registry.Methods: Children (<18 years old) with a diagnosis of HPP who were not receiving enzyme replacement therapy with asfotase alfa at the time of evaluation were identified f...

Bone remodelling is maintained by a balanced activity of osteoclasts and osteoblasts. Alterations in this cross-talk result in bone pathological conditions. High bone mass defines a complex and heterogenous genetic condition characterized by increased bone density. In particular, osteopetrosis is a genetic condition of high bone mass caused by impairment in osteoclast generation or function. Molecular analysis of human osteopetrosis has allowed the identification of novel gene...

Biographical DetailsAnna Villa is Chief of the Human Genome Unit at UOS/IRGB and is also responsible for a Research Unit at Telethon Institute for Gene Therapy (TIGET). Her group has also extensively contributed towards the molecular dissection of genetic bone disorders, focusing on autosomal recessive osteopetrosis (ARO). In particular she has identified TCIRG1 as the gene responsible fo...

Abstract unavailable....

Disorders of glucose metabolism are associated with adverse skeletal effects. Hyperglycemia impairs the function of osteoblast-like cells but the mechanisms underlying glucose toxicity are poorly understood. In this study we determined the effect of elevated extracellular glucose levels on the proliferation and osteogenic differentiation of mesenchymal stromal cells (MSC).Bone marrow cells were isolated from rat long bones, plastic-adherent MSCs were enr...