Bone Abstracts

Background: We identified a family with early onset X-linked osteoporosis and fracturesMethods: We performed whole exome sequencing of the X chromosome in three affected members. After discovering a putative pathogenic variant we performed Sanger sequencing of all exons of this gene in other members of this family and in 95 unrelated men suspected of OI type I without COL1A1/2 mutations. We also genotyped a SNP in this gene (minor allele frequency 0.02) ...

The neuro-hypophiseal hormone oxytocin (OT) is a novel anabolic regulator of bone mass (Tamma et al. PNAS, 2009), upregulating expression of critical osteoblast transcription factors. These effects are mediated by oxytocin receptor, a GPCR expressed by osteoblasts. Recently an increasing number of reports indicates that GPCRs could be targeted to the nuclear membrane; prostaglandin receptors, endothelin receptors and β-adrenergic receptors among others (...

Multiple myeloma (MM)-bone disease occurs in 70 to 80% of patients at MM diagnosis, and up to 90% at relapse; skeletal related events cause high morbidity and mortality. MM-bone disease consists of lytic lesions arising as a consequence of an unbalanced bone remodelling due to osteoclast (OC) activation, and osteoblast inactivation. Osteoclastogenesis may be under immune cell regulation through the production of numerous cytokines, such as LIGHT/TNFSF14, a newly identified mem...

Teriparatide is the active fragment (1–34) of the endogenous human parathyroid hormone (PTH). Studies showed that chronic administration of PTH results in decreased bone mass while intermittent exposure to PTH activates osteoblast bone deposition. Most of the structural studies published so far about the effect of Teriparatide focused their attention on the amount of newly-deposed bone without investigating the quality of the newly-formed bone tissue; moreover, most of th...

Biographical DetailsCatherine M Gordon, MD, MSc is a Professor of Pediatrics at the Alpert Medical School of Brown University and is Director of the Division of Adolescent Medicine at Hasbro Children’s Hospital. She is board-certified in adolescent medicine and pediatric endocrinology. She is on the Board of Directors for the International Society for Clinical Densitometry, and direc...

Objectives: We aimed to analyze bone mineralization in postmenopausal women of Southern Apulia and to evaluate the effect of obesity-related phenotypes as BMI ≥30 kg/m2, diabetes, hypertension and cardiovascular diseases.Methods: The PROF project is a population-based study on 3.356 subjects (40–99 years) analyzed by phalangeal quantitative ultrasound (QUS) to evaluate bone mineral status. A total of 2.756 postmenopausal women were ...

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Background: Adult GH Deficiency (GHD) is associated with decreased bone mass and increased fracture risk. Recombinant human GH (rhGH) replacement therapy leads to progressive increases in bone mineral density (BMD) for up to 7 years of treatment, but little is known on longer term effects of rhGH therapy on bone mass or fracture risk.Methods: 230 GHD patients (mean age 47.1 years, 52.6% female) on rhGH replacement therapy for ≥5 years were included...

Introduction: Vascularised fibula autograft combined with a massive bone allograft (Capanna 2007) is used in skeletal reconstructions in children. If vascularisation is successful a clear remodelling of the reconstruction can be observed. This study aims to define a protocol to characterise bone’s structural evolution in skeletal reconstructions through a computer-aided analysis, and attempts a biomechanical interpretation of the observed phenomena through a multiscale mo...

Introduction: Acromegaly is a rare disease caused by excess growth hormone (GH) production by an adenoma of the anterior pituitary gland. The skeletal complications of GH and IGF-1 excess include increased bone turnover, increased cortical bone mass and deteriorated microarchitecture of trabecular bone, associated with a high risk of vertebral fractures in the presence of a relatively normal Bone Mineral Density (BMD). There are no data on bone material properties in patients ...