Bone Abstracts

Objective: With recent genome wide association studies (GWAS), ~70 loci have been robustly and reproducibly associated with adult bone density and/or osteoporosis. However, to date no systematic effort has investigated which of these loci operate early in life. We investigated whether these single nucleotide polymorphisms (SNPs) are associated with childhood areal bone mineral density (aBMD). In addition we determined if any of the associations were age dependent.<p class=...

Purpose: To study the value of the central vertebral height restoration by kyphoplasty for treatment of biconcave vertebral compression fractures.Method: Review the patients with the single biconcave vertebral compression fracture receiving kyphoplasty treatment from 2006 to 2013 (49 cases, 13 males and 36 females) According to Genant classification, with the central vertebral compression ratio, they are divided into type II (<25%, 11 cases), type II...

Background: Surgical and conservative treatments are both crucial method to deal with osteoporotic fracture, anti-osteoporotic therapy is the most important among conservative treatments and diphosphonate medicine is the first-line choice. The pharmacological action of diphosphonate medicine is to inhibit the function of osteoclast, so there is no consensus if it will inhibit porosis and union of fracture.Purpose: To find out the influence of diphosphona...

TNF receptor-associated factors (TRAFs) −6 and −3 regulate RANKL and TNF signaling in osteoclast precursors (OCPs), but they can have opposing effects, and it is not known if their functions are inter-dependent. For example, TRAF6 is required for RANKL/RANK-induced osteoclastogenesis, while TRAF3 limits both RANKL- and TNF-induced osteoclastogenesis through proteasomal degradation of NF-κB-inducing kinase; and inhibition of autophagic degradation of TRAF3 by c...

see P146....

Identifying novel approaches for enhancing osteoblast (OB) differentiation of human skeletal (mesenchymal) stem cells (hMSC) can lead to development of novel anabolic agents required for efficient bone formation. Transforming growth factor-βs (TGF-β1, 2, 3) are one of the most abundant growth factors in bone and play a key role in regulating bone remodeling. Canonical TGF-β signaling inhibits, whereas components of the non-canonical TGF-β signaling (e.g. Ak...

Bone fractures can be a serious and frequent problem for patients suffering from osteoporosis, metastatic bone cancer and congenital bone disorders. The promotion of new bone formation and mineralization can facilitate healing and stronger union of fractured bones. Our laboratory has identified important developmental roles of sphingomyelin phosphodiesterase 3 (SMPD3), which include the promotion of apoptosis of hypertrophic chondrocytes and mineralization of cartilage and bon...

Objectives: Several genes have been recognized to be associated with nonsurgical hypoparathyroidism. Most previous studies focused on gene mutation among paediatric hypoparathyroidism patients. Data about gene mutations in adult-onset hypoparathyroidism patients is still lacking. This study was designed to evaluate the role of gene defects in the pathogenesis of adult-onset hypoparathyroidism in China through the targeted next-generation sequencing (NGS).<p class="abstext"...

Objectives: For paediatric patients with hypoparathyroidism, genetic defects should be considered firstly. This study was to investigate the clinical features and analyse gene mutations of Chinese patients with child-onset hypoparathyroidism.Subjects and methods: We enrolled 35 paediatric patients with hypoparathyroidism at our clinical centre between 1984 and 2014. Clinical characteristics were collected and Targeted next-generation sequencing (NGS) was...

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...