Bone Abstracts

Severe generalised recessive dystrophic epidermolysis bullosa (RDEB) is a rare disorder resulting from loss of function mutations in the type VII collagen gene (COL7A1). Although RDEB is characterised by severe skin blistering and erosions following minor mechanical trauma, it is a multisystem disorder with pubertal delay and low bone mass as part of the many complications.Children with RDEB have been described as having inadequate gains in bone...

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...

We recently observed an increased risk for vertebral fractures (VF) in a randomized controlled trial comparing the analgesic effect of vertebroplasty (VP) vs conservative treatment (CT) in symptomatic VF. The aim of the present study was to evaluate the risk factors related to the development of VF after VP in these patients.Methods and results: We evaluated risk factors including age, gender, bone mineral density, the number, type and severity of verteb...

The autophagy protein LC3 is necessary for bone resorption by osteoclasts, although it has been suggested that this may be through a novel, autophagy-independent process, by promoting lysosomal fusion at the ruffled border (RB). This process would be analogous to LC3-associated phagocytosis (LAP), in which LC3 is acquired by phagosomes through an autophagy-independent process, and controls phagosome maturation by promoting fusion with lysosomes. We have investigated this possi...

Background: Previous TBS studies in type 2 diabetes have suggested a deterioration of bone microarquitecture that could be related to a higher risk of fractures. However, there are no information in liver transplantation (LT) patients with new-onset diabetes after transplantation (NODAT).Our aim was to investigate TBS in LT patients and the influence of NODAT in these patients. Also, we investigated the relationship between TBS and body composition param...

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...