Bone Abstracts

Introduction: To analyze clinical assessment and efficacy of once-yearly i.v. zoledronic acid for osteoporosis.Materials and methods: The subjects were 322 osteoporotic patients who received more than single infusion of zoledronic acid in our hospital from October 2008 to March 2011. On clinical assessment, the adherence was evaluated by measuring the rate of reinfusion. Adverse events were recorded for safety assessment. For efficacy assessment, the bon...

Autosomal dominant osteopetrosis type II (ADO2) is a rare osteosclerotic disease due heterozygous missense mutations of the CLC7 gene encoding the type seven chloride channel. Our two labs independently generated the first C57 black 6 (B6) mouse model of ADO2 by inserting the pG213R-clc7 mutation. Homozygous mice showed lack of tooth eruption and died within 30 days of age with severe osteopetrosis and central nervous system degenera...

Introduction: Osteogenesis imperfecta (OI) is a genetic disorder which mainly affects the collagen in the bone mass with fractures and deformities as the main symptoms. In OI there is a great variation in dysfunction related to the disease. Mobility and activities related to mobility are often most difficult. The objective for this study was to find a relevant, valid and reliable instrument to assess the children’s activity capability.Method and par...

Autosomal dominant type II osteopetrosis (ADO2) is a rare osteosclerotic disorder due to heterozygous missense mutations of CLC7 gene encoding the type 7 chloride channel. Our two labs (L’Aquila and Indianapolis) independently generated the first C57 black 6 (B6) mouse model of ADO2 by inserting the pG213R-clc7 mutation. We created pG213R-clc7 KI mice using a gene targeting approach. Homozygous mice showed lack of tooth eruption and died within ...

TSH exerts both antiresorptive and anabolic effects on bone remodeling in aged ovariectomized rats and TSH−/− mice, supported by clinical results demonstrating that low TSH level is associated with increased bone loss. To further explore the effect of TSH on bone metabolism we here introduced a rat model with removed thyroid and parathyroid glands to obtain low serum concentrations of thyroid and parathyroid hormone, calcitonin and 1,25(OH)2D<...

Besides its well known effect on longitudinal bone growth, GH plays a role in the maintenance of adult bone mass. As aging progresses GH levels decline, bone mass decreases and mesenchymal precursors show a reduced osteogenic differentiation capacity resulting in an increase in bone marrow adipocytes. We investigated the effect of GH on MSC differentiation and the possible involvement of microRNA in this process. Human MSC derived from trabecular specimens, waste material of o...

Titanium implants have been extensively used in dentistry as a replacement of absent dental elements. The biocompatibility of a material depends on cellular response in contact with a surface. The microarray technology is a tool to obtain an overview of the cell state in terms of large-scale transcriptional expression in different situations. Thus, the objective of this investigation was to evaluate the transcriptional profile of osteoblastic cells from human alveolar bone cul...

Aim: Aim of our study was to investigate the serum adiponectin, leptin, and osteoprotegerin (OPG) levels and its expressions in the adipose tissue, and their relationships with bone metabolism and in patients with severe C chronic obstructive pulmonary disease (COPD).Materials and methods: Serum leptin, adiponectin, OPG, the receptor activator of nuclear factor-kB ligand (RANKL), and bone turnover markers (osteocalcin and type 1 collagen C-telopeptide (C...

Mutations of the ALPL-gene are closely related to hypophosphatasia (HPP), an inherited disorder of bone and mineral metabolism with clinically heterogeneous symptoms. To date 278 different mutations have been described, leading to reduction or completely loss of enzymatic activity of the tissue nonspecific alkaline phosphatase (TNAP).We present the case of a 6-year-old boy with clinical features and laboratory results consistent with infantile H...

Introduction: Niemann–Pick disease (NPD) is a rare autosomal recessive lysosomal lipid storage disorder. It is caused by mutations of genes which products are involved in the metabolism of sphingolipids. Their dysfunction causes sphingomyelin to accumulate in different organs which leads to progressive multisystemic disorder. Types A and B NPD are caused by mutations in sphingomyelin phosphodiesterase-1 gene with deficiency of acid sphingomyelinase (ASM). Types C and D NP...