Bone Abstracts

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 ...

Background: Trisomy 9p is a rare abnormality caused by duplication of the short arm of chromosome 9. Translocation t(9;11) is a rarer variant. Both anomalies are compatible with long survival. Clinical manifestations are very variable, and include short height, mental retardation, hypertelorism, strabismus, foot/hand anomalies, delayed bone maturation. Low bone mineral density (BMD) or fragility fractures have never been reported.Presenting prob...

Introduction: Persistence is defined as the period between the start and the interruption of a pharmacological treatment. In osteoporotic patients, persistence to therapy is poor, resulting in reduced benefits and increased risk of fracture.The aim of this study is to analyze persistence with drug therapy in osteoporotic patients in the Campania region.Material and methods: We conducted a retrospective population-based cohort study to examine prescriptio...

Introduction: Despite the popularity of platet lysate (PL) treatments in orthopaedics, the mechanism of action and the effectiveness of this therapeutic tool is still controversial. So far, the activity of PL has been associated with different growth factors (GFs) released upon platelet degranulation. However, PL activity might also be due to the efficient cell to cell transport system of GF and other bioactive molecules by their encapsulation into exosomes. In this study, we ...

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Multiple myeloma is an incurable neoplastic disorder of plasma cells, which invade the bone marrow, secrete monoclonal immunoglobulins, and induce bone lesions, hypercalcemia, anemia and renal failure. The development of myeloma relies on vicious interactions with the bone microenvironment, a deeper knowledge of which is needed to identify prognostic markers and potential therapeutic targets. To achieve an unbiased, comprehensive assessment of the extracellular milieu of myelo...

Osteonecrosis of the jaw (ONJ) has been recently described after i.v. administration of amino-bisphosphonates and – less frequently – in association with the use of oral bisphosphonates. Bisphosphonate-related osteonecrosis of the jaw (BRONJ) may affect mandible bone (65%), maxilla bone (26%) and rarely (9%) both sites simultaneously. Although causality may never be proven, emerging experimental data have established a strong association between monthly i.v. bisphosp...

Introduction: We have recently shown that T cells play a key role in postmenopausal bone loss, here we investigate the influence of estrogen replacement therapy in the control of the immune system and osteoclastogenesis.Description of methods: We enrolled in the study 30 women with postmenopausal osteoporosis randomized to estrogen replacement therapy (HRT) or raloxifene (RLX) associated with calcium and vitamin D or calcium and vitamin D alone.<p cl...

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...

Objective(s): We aimed to determine the prevalence of osteoporosis and risk factors for bone demineralization in the Italian population.Material and methods: 3090 consecutive subjects were screened for osteoporosis by using calcaneal quantitative ultrasounds (QUS) in 16 Italian cities (women: 2635; men: 455) during the extension of the FIRMO study carried out in 2011 on about 7000 people. Anamnestic data were collected to assess the presence of recognize...