Bone Abstracts

Dysosteosclerosis (DSS) is the rare osteopetrosis (OPT) distinguished by metaphyseal osteosclerosis with relative radiolucency of widened diaphyses and platyspondyly. In 2012, mutations in the SLC29A3 gene were discovered to cause DSS.Here, we report a new case of DSS presenting with severe anemia and having a unique homozygous mutation in SLC29A3.Our patient was the 3rd child of consanguineous Turkish parents. She present...

Background: Despite the large amount of studies published on the association of vitamin D deficiency with higher incidence of falls and fractures, the threshold for a sufficient serum 25(OH)D concentration remains subject to a considerable debate. There has also been no clear consensus on the assessment and treatment of vitamin D deficiency.Objective: To examine the prevalence of vitamin D deficiency and/or insufficiency and its impact on calcium/phospha...

The healing of skeletal fractures involves a cascade of overlapping cellular events. This study aims to deepen the understanding of molecular networks orchestrating these events.Standard closed fracture in the left femur of male 8–10 weeks old C57BL/6N mice were analyzed at (day=D) D3, D7, D10, D14, D21 & D28 post fracture (N=5/time point). Total RNA was prepared for whole genome expression profiling using Illumina μ-array kit. Dat...

Multiple Myeloma (MM) is a malignancy of Plasma Cells (PC), characterized by severe osteolytic lesions but poor 99Tc-MDP uptake in bone scans due to osteoblast inhibition. We hypothesized that high demands for membrane biosynthesis in tumour PC would enhance monocarboxylic acid anabolism and uptake, which could be exploited for treatment and molecular imaging. Here, we tested the efficacy of clinically available 11C-Acetate PET to detect myeloma and quant...

Inflammatory stimuli can lead to bone loss by mechanisms that are not well understood. We recently showed that skin inflammation induces bone loss in mice and humans. In psoriasis, one of the prototypic IL-17A-mediated inflammatory human skin diseases, low bone formation and bone loss correlates with increased serum IL-17A levels. Similarly, in two mouse models with chronic IL-17A-mediated skin inflammation, K14-IL17Aind and JunB&...

Background: Periostin is a matricellular protein involved in bone modeling and remodeling through the modulation of WNT-β catenin signaling in osteoblasts and osteocytes.Aim: To investigate the interaction between polymorphisms of six periostin SNPs and other gene polymorphism involved in periostin expression and activity on periostin serum levels and bone microarchitecture in a cohort of postmenopausal women.Methods: A total ...

Study design: Prospective study.Objectives: The risk factors correlated with actual falls were assessed in patients with lumbar spinal stenosis.Materials and methods: In 201 patients (M:F 65:136) with symptomatic lumbar spinal stenosis, falls history within recent one year was investigated. The factors which were expected correlation with actual falls were evaluated together. Blood chemistry was performed to evaluate serum Vitamin ...

Background: Despite the large amount of studies published on the association of vitamin D deficiency with higher incidence of falls and fractures, the threshold for a sufficient serum 25(OH)D concentration remains subject to a considerable debate. There has also been no clear consensus on the assessment and treatment of vitamin D deficiency.Objective: To examine the prevalence of vitamin D deficiency and/or insufficiency and its impact on calcium/phospha...

Objects: Seventy seven clinically diagnosed pseudohypoparathyroidism (PHP) patients from our hospital during 2000–2010 were recruited to analyze the clinical features and molecular genetics of Chinese PHP patients.Methods: The clinical data of the 77 PHP patients were retrospectively analyzed. Methylation status of GNAS was detected by combined bisulfiterestriction analysis. Genome DNA was extracted from peripheral blood lymphocytes. GN...

Osteoclasts are multinucleated giant cells derived from the monocyte/macrophage lineage in the presence of receptor activator of nuclear factor kappa-B ligand (RANKL) and colony-stimulating factor 1 (CSF1). The bone remodeling process in zebrafish is incompletely understood. Here we describe several methods to quantify bone formation and resorption using a zebrafish mutant that lacks functional colony stimulating factor 1a receptor (csf1ramh5/mh5). Mice deficient in...