Bone Abstracts

Aim: The aim of the study was to evaluate the usefulness of the fracture risk evaluated through the FRAX® model based only on the clinical risk factors as a screening tool for identify the target population for treatment in osteoporosis.Materials and methods: Two hundred and seventy-six postmenopausal women treatment naive referred to two different endocrinology departments for osteoporosis between 2009 and 2011 were evaluated. The FRAX® model ...

Osteoclast-poor autosomal recessive osteopetrosis is characterised by susceptibility to fracture despite high bone mineral density as a consequence of an absence of osteoclasts. One of the 12 receptor activator of NF-κB (RANK) mutations associated with this condition is a frameshift mutation encoding a protein that is truncated within the extracellular, N-terminal domain (R110Pfs). We investigated the effect of this mutation on osteoclast formation, receptor localisation ...

Background: Noonan syndrome (NS) is a genetic multisystem disorder characterized by distinctive facial features, learning difficulties, short stature, and cardiac defects. Other important findings include skeletal anomalies, especially spinal and chest deformities. Skeletal dysplasia was proven to be secondary to a disorder of RAS-mitogen activated protein kinase (MAPK) pathway which is essential for regulation of cell differentiation and growth including bone homeostasis. We ...

Twelve different mutations in TNFRSF11A (encoding the RANK receptor) have been associated with osteoclast-poor autosomal recessive osteopetrosis in patients. Two truncated RANK proteins resulting from substitution mutations (W434X and G280X), identified in two infants, cause loss of the intracellular oligomerisation motif and in the case of the G280X mutation the TRAF6 binding domain. A third mutation was identified in a 10-year-old patient and is a frameshift mutatio...

Background: Stuve–Wiedemann syndrome (SWS, OMIM 601559) is a severe autosomal recessive condition characterized by bowing of the lower limbs with cortical thickening, wide metaphyses, abnormal trabecular pattern and camptodactyly. Additional features include dysautonomia symptoms with temperature instability, respiratory distress and sucking/swallowing difficulties in the first months of life.Most SWS cases do not survive beyond the first y...

Introduction: Atypical markers will provide interesting information in order to assess the bone metabolism. Serotonin has a dual action related to the bone and its serum level is the easiest to use in daily clinical practice also the exact value is not very well described up to this moment.Aim: We correlate to serum levels of serotonin with different results of clinical bone health evaluation in menopausal women.Materials and metho...

Giant cell tumour of bone (GCTb) is an osteolytic neoplasia with tendency to local recurrence (10–25%), while metastases or malignant transformation are described in 1–4% of cases.It is composed by three distinct populations that cross-talk each other generating unbalance in bone remodeling and activation of NF-kB signaling pathway.To identify new candidate biological markers useful for improving clinical management of GC...

In the recent years the role of the skeleton in glucose and energy homeostasis has been studied. In particular the osteoblast-specific protein osteocalcin (OC), in its undercarboxylated form (uOC) has been shown to influence glucose homeostasis in animal models.The aim of our study is to evaluate if the intermittent administration of 1–84 PTH could influence glucose metabolism through its anabolic action on the skeleton.We enr...

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 ...

see P162....