Bone Abstracts

Objectives: To describe two familiar cases of Hajdu–Cheney syndrome, a rare genetic disorder associated with skeletal dysplasia, craniofacial abnormalities, short stature, acro-osteolysis and osteoporosis.Materials and methods: A 51-year-old woman (case 1) presented in our outpatient clinic with pseudo-clubbing of some fingers and toes. She was short (139 cm) and thin (34 kg). She had facial and cranial abnormalities: thin lips, long philtrum, full ...

Objectives: To describe the response to treatment with teriparatide for osteoporosis associated with Hajdu–Cheney syndrome after a follow-up 2 years.Material and methods: A 51-year-old woman presented in our outpatient clinic with pseudo-clubbing of some fingers and toes. She was short (139 cm) and thin (34 kg). She also had some facial and cranial abnormalities: thin lips, long philtrum, full cheeks, micrognathia, short neck, bushy eyebrows and coa...

Introduction: Teriparatide is a potent anabolic drug that has demonstrated efficacy on fracture risk reduction in women with severe postmenopausal osteoporosis. Denosumab, designed to inhibit RANKL (RANK ligand), is a fully human MAB for the treatment of osteoporosis. BMD changes, measured by DXA, is an established tool for monitoring the effects of anti-osteoporotic therapy. Our purpose is to compare teriparatide vs denosumab efficacy on hip BMD variations, in postmenopausal ...

Introduction: Denosumab, a fully human monoclonal antibody to RANK ligand, effectively reduces bone resorption by inhibiting RANK-L binding to RANK. We aimed to evaluate the efficacy of denosumab in post-menopausal women, by monitoring the evolution of different parameters of bone health: T-score, morphometry, osteocalcin and β-Ctx.Methods: A 34 women with severe postmenopausal osteoporosis, characterized by multiple vertebral fractures wer...

Objectives: To confirm effect of intravenous treatment with ibandronate every three months in common population of postmenopausal women.Methods: Patients with postmenopausal osteoporosis, who fulfil ACR criteria for postmenopausal osteoporosis and were treated with intravenous ibandronate for two years, underwent DEXA examination.Results: A 50 women suffering from postmenopausal osteoporosis were treated with ibandronate i.v. every...

Odanacatib (ODN), a selective oral inhibitor of cathepsin K, is in development for the treatment of osteoporosis. In the primary efficacy analysis of the Phase 3, Long-Term ODN Fracture Trial (LOFT; NCT00529373), ODN significantly reduced fracture risk compared with placebo in postmenopausal women with osteoporosis. Pre-specified subgroup analyses evaluated the efficacy of ODN in patient subgroups.Women aged ≥65 years, without baseline radiographic...

Osteoarthritis is a complex pathogenesis because diverse factors interact causing a process of deterioration of the cartilage and the subchondral bone. Despite the multifactorial nature of the knee osteoarthritis, it is related to a strong genetic component. Determination of molecular genetic causes of osteoarthritis is an actual problem. There are several approaches to assess the contribution of a candidate gene in the pathogenesis of osteoarthritis. The aim of the study was ...

Introduction: Osteoporosis is a global public health problem affecting more than 200 million people worldwide. Osteoporosis has clinical and public health implications because of the mortality, morbidity, and cost of medical care associated with osteoporotic fractures. The World Health Organization (WHO) has defined criteria for assessing bone status by DEXA, which are defined by the T-score, which is the number of standard deviations (SDs) by which a patient’s t...

Owing to their anti-inflammatory effects, steroid therapy using glucocorticoids (GCs) is still part of the treatment of rheumatoid arthritis (RA), despite several severe side effects like glucocorticoid-induced osteoporosis (GIO). Until now the molecular mechanisms underlying the beneficial and side effects of GC therapy are poorly understood. GCs exert their actions via the glucocorticoid receptor (GR) that alters gene expression by either binding as a dimer to GC response el...

Pseudovitamin D-deficiency rickets (PDDR) is a rare autosomal recessive disorder resulting from a defect in renal 25-hydroxyvitamin D 1α-hydroxylase, which is encoded by the CYP27B1 gene. To our best knowledge, 48 mutations of the CYP27B1 gene have been identified so far. In the present study, we investigated CYP27B1 mutations in seven individuals from six separate families and identified nine different mutations: two novel missense mutations (G194R, R259L), three novel a...