Bone Abstracts

In children and adolescents with acute lymphoblastic leukemia (ALL), low bone mineral density (BMD) and increased risk of fractures can be observed at diagnosis and/or during treatment.This prospective study was aimed to evaluate BMD and bone turnover in patients with a new diagnosis of ALL, treated with an international protocol (AIEOP BFM ALL 2009) (*), based on high-dose steroids and chemotherapeutic drugs.Inclusion criteria wer...

Zoledronic acid (AZ), is considered first-line treatment for Paget’s disease (PD) of bone. The most common adverse event is flu-like syndrome, described between 10 and 50% of patients. Nowadays, there is not known exactly the molecular basis of this syndrome yet. Statins play an important role in the mevalonate pathway, blocking the production of proinflammatory cytokines secreted by T cells γ/δ.Objectives: Characterization and in...

Background: Osteoporosis is a leading cause of morbidity in patients affected by β-thalassaemia major (TM) and intermediate thalassaemia (TI). Appropriate supportive care and identification of long-term sequels of therapy are important in thalassaemic patients. As low bone mineral quality (BMQ) in patients can be considered a marker of possible degeneration to osteopenia and osteoporosis in adulthood, we evaluated bone features in a young population followed at ‘A. P...

Osteoporosis is a leading cause of morbidity in patients affected by β-thalassaemia major (TM) and intermediate thalassaemia (TI). Appropriate supportive care and identification of long-term sequels of therapy are important in thalassaemic patients. As low bone mineral quality (BMQ) in patients can be considered a marker of possible degeneration to osteopenia and osteoporosis in adulthood, we evaluated bone features in a young population followed at ‘A. Perrino’...

Autosomal Recessive Osteopetrosis (ARO) presents early in life with extreme sclerosis of the skeleton, reduction of bone marrow spaces, hepatosplenomegaly, cranial nerves compression and severe growth failure. ARO is often lethal and at present the only therapy is HSCT, which should be performed as soon as possible in order to obtain a major benefit. ARO is genetically heterogeneous and delays in clinical diagnosis sometimes occur, due to its rareness and to the presence of co...

Background: Osteoporotic fractures are a major cause of disability and results in extensive utilization of health care resources. The history of previous fractures increases the risk for future fragility fractures.Subject: To describe the diagnostic therapeutic protocol of our tertiary care clinic dedicated to the osteoporosis (OP) treatment. To estimate the use of effective therapies for OP in those patients at highest risk for future fracture.<p cl...

Objectives: Type 2 diabetes mellitus (T2DM) is associated to an higher risk of fractures despite a normal or increased bone mineral density measured by dual-energy X-ray absorptiometry (DXA).The purpose of this 3-years longitudinal study was to assess the changes of quantitative ultrasound (QUS) parameters in a group of postmenopausal women with T2DM and in healthy controls.Materials and method: The analyses were performed on a gro...

Objective: Even though recent studies have proved the presence of cancer stem cells (CSCs) in osteosarcoma (OSA), with this study, for the first time, the existence of CSCs in a rare high grade type of OSA, the telangiectatic osteogenic sarcoma (TOS), is showed.Methods: TOS sample was collected at the ‘Ortopedia Oncologica e Ricostruttiva Unit’, AOU Careggi, Florence, with informed consent approved by the local Ethical Committee. First of all, ...

Osteogenesis imperfecta is a clinically heterogeneous heritable connective tissue disorder. Most OI cases are due to mutations in type I collagen genes, COL1A1 and COL1A2 encoding the pro-alpha1(I) and pro-alpha2(I) chains respectively. However, genotype-phenotype correlation has not been completely elucidated yet. In this study we evaluated a familial case including a mother and a daughter, classified as OI type I. The daughter had more severe clinical featu...

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 ...