Bone Abstracts

MicroRNAs are important regulators of gene expression with documented role in bone metabolism and osteoporosis. Moreover, the use of miRNAs constitutes potential therapeutic targets. Our aim was to identify miRNAs differentially expressed in fractured compared to healthy bone. Additionally, we performed a miRNA profiling of primary osteoblasts to assess the origin of the differentially expressed miRNAs. Total RNA was extracted from fresh femoral neck trabecular bone from women...

see PP277....

The aims of this study were to establish the prevalence of the high bone mass (HBM) phenotype in a cohort of Spanish postmenapausal women (BARCOS); to determine whether any of the HBM cases carry LRP5 or DKK1 mutations; to test the hypothesis of an inverse correlation between the number of common variant risk alleles and HBM; and to characterize the expression of osteoblast-specific and Wnt pathway genes in primary osteoblast RNA samples from two HBM cases.</...

Over the past decade, many GWAs and meta-analyses were performed to identify genes and regions involved in bone metabolism and in the osteoporotic phenotypes. Nevertheless, the majority of these GWAS results were not tested at any functional level. This study aims to find and study functional regions in the RANK and RANKL genes that encode well-established proteins in the bone remodeling equilibrium. SNPs, chosen for their location in an evolutionary conserve...

Introduction: We describe a monozygotic twin pair, of which one boy was diagnosed with anorchia. Both were followed-up till age 17.Case report: At birth, in one twin 46 XY boy (A), testes were not palpable while his brother (B) was unaffected. Stimulation with human chorionic gonadotrophin (hCG) and orchidopexia were unsuccessful at age 3. A second hCG-stimulation test was performed at age 8, where serum testosterone response failed to increase. No testi...

Biographical DetailsDr Melita IrvingDr Melita Irving is a consultant in clinical genetics and joint head of service at Guy’s and St Thomas’ Hospital NHS Foundation Trust with the Evelina London Children’s Hospital. She is a trained general geneticist and sub-specialises in skeletal dysplasia, particularly achondroplasia and other gene...

Introduction: Heterotopic ossification (HO) means deposition of bone within the soft tissue around peripheral joints, first described by Guy Patin in 1692. This may occurs in up to 50% of spinal cord injury (SCI) patients. HO begins at mean of 12 weeks after injury. Only 10–20% of patients have clinical symptoms with decreased range of motion and inflammatory symptoms in the affected joints. The large joints below the levels of injury are typically affected, most commonly...