Bone Abstracts

Introduction: Osteoblast lineage cells express glutamate receptors and secrete glutamate, which acts as an autocrine factor to promote cellular differentiation and activation. However, the mechanisms by which glutamate regulates these functions, remain unclear.Methods: Primary osteoblasts were isolated from calvaria of 2–3 days old mice. The cells were treated with inhibitors of glutamate transporters, namely the Scl1a1 and Scl1a3 inhibitor L...

Objectives: Congenital adrenal hyperplasia (CAH) is a rare condition characterized by the inability of the adrenal gland to produce cortisol. The classical form is due to the deficit of 21-hydroxylase activity (21-OHD) and it accounts for 90–95% of all CAH cases. Treatment of CAH patients consists of life-long glucocorticoid therapy, which must be dosed carefully to avoid excessive or insufficient adrenal suppression. There are data showing low bone mineral density (BMD) ...

Tumour necrosis factor receptor associated factors (TRAFs) play a key role in signal transduction in mammalian cells. Several members of the TRAF family have been identified but only TRAF2 and TRAF6 are implicated in the regulation of osteoclastogenesis. Here we studied the role of TRAF2 and TRAF6 in breast cancer induced bone cell activity and osteolysis. We observed that TRAF2, but not TRAF6, is highly expressed in the human MDA-MB-231 (MDA-231) bone-seeking breast cancer ce...

Desbuquois dysplasia (DBQD) is a rare recessive chondrodysplasia, characterized by growth retardation, multiple dislocations and advanced carpal ossification. Two forms of DBQD have been described on the basis of the presence (type 1) or absence (type 2) of characteristic hand anomalies. DBQD type 1 is caused by mutations in the Calcium-Activated Nucleotidase 1 gene (CANT1), while DBQD type 2 is caused by mutations in the xylosiltransferase 1 gene.CANT1 ...

Objectives: The present study aims at evaluating bone mineral density (BMD) in a population of children with Neurofibromatosis type I (NF1), with particular focus on changes occurring during growth and pubertal development, trying to understand the magnitude and timing of onset of BMD impairment in this multisystemic and progressive disease, the latter poorly defined so far.Methods: Bone metabolic markers (total calcium, phosphorus, bone alkaline phospha...

Tumor development occurs often by over-activation of members of the RAS-oncogene family (small GTPases (sGTPs)). By blocking the mevalonate pathway, aminobisphosphonates (BPs), and statines prevent activation of GTPs by inhibiting their post-translational prenylation. As we have shown, this induces apoptosis in U2OS osteosarcoma cells by re-activation of FAS expression via epigenetic DNA demethylation (1).The histone demethylase JHD...

Introduction: Osteoporosis is a common complication in patients with chronic cholestasis, usually characterized by reduced bone formation. Ursodeoxycholic acid (UDCA) improves differentiation and mineralization and counteracts the damaging effects of bilirubin and lithocholic acid (LCA) in osteoblastic cells. Moreover, UDCA decreases apoptosis in a number of cell lines, but this antiapoptotic effect has not been investigated in bone cells.Aims: To assess...

Wnt–β-catenin signalling and its antagonists (sclerostin and Dkk-1) play an important role in the regulation of bone mass and osteoblastogenesis. Glucocorticoid therapy (GCCT) is a well known factor related to decreased bone formation and osteoporosis development. Therefore, we analyzed the effect of GCCT on Wnt signalling antagonists (sclerostin and Dkk-1) and their relationship to bone mass and bone turnover.Methods: 22 patients (11M/11F, age...

We performed a prospective study on 440 young patients (aged 3–20 years), affected by various chronic diseases (cystic fibrosis; juvenile idiopathic arthritis; nephrotic syndrome; systemic lupus erythematosus; Duchenne muscular dystrophy; autoimmune hepatitis; transplants; etc.), with periodical bone mineral density (BMD) evaluations with DXA, for 3–14 years (7.8±6.2).266 patients were on long-term treatment with glucocorticoids (GCs); amo...

Chronic recurrent multifocal osteomyelitis (CRMO) is a rare, auto-inflammatory disorder of unknown cause that affects children and adolescents. CRMO is characterized by periodic bone pain, fever, multiple bone lesions occurring at any skeletal site, even if the metaphyseal area of long bones, clavicle and shoulder girdle are the most common locations. Dermatological manifestations include psoriasis, acne and pustules. The clinical and radiological features of the disease are v...