Bone Abstracts

see PP433....

Denosumab (DMAb) significantly improves bone strength at the hip, estimated by FEA from QCT scans, from baseline (B/L) and vs placebo (Pbo) (Keaveny ASBMR 2010). We determined the extent and distribution of mass and thickness changes at the proximal femur, a key skeletal site for fracture risk, using a novel cortical bone mapping technique on the same serial QCT scans. A FREEDOM substudy included 80 women who underwent hip QCT scanning at B/L and months 12, 24 and 36 during DM...

Analysis of genome wide data such as transcriptomics can identify genes of potential interest to bone biology. These techniques are primarily hypothesis-generating. Determining the role of candidate factors in bone ultimately requires in vivo experiments. Gene expression analysis of mouse osteoclast differentiation identified G protein-coupled receptor 137B (GPR137b) as highly upregulated. GPR137b is an orphan seven-pass transmembrane receptor of unknown func...

Focal cortical thinning and loss of trabecular structure in the proximal femur is associated with hip fracture. We analysed clinical computed tomography (CT) scans in cases and controls to explore their contributions to hip fracture in women.We used cortical bone mapping (CBM) and statistical parametric mapping (SPM) after combining women with hip fracture from FEMCO and Prague Hip Joint in Trauma studies (n=138, 52 Trochanteric and 86 Femoral N...

Background: Mutations in the ENPP1 gene have been identified in individuals with generalized arterial calcification of infancy (GACI), a life-threatening disorder characterized by calcification in the blood vessels, because of reduced availability of pyrophosphate. We describe a case of GACI due to a novel ENPP1 mutation.Presenting problem: The patient, born at term to non-consanguineous parents, was referred to us at birth with weak femoral pulses for e...

Osteoporosis pseudoglioma syndrome (OPPGS) is a rare autosomal recessive disorder characterised by congenital or juvenile-onset blindness, severe juvenile-onset osteoporosis, and skeletal fragility. OPPGS is caused by loss-of-function mutations in the LRP5 gene, a member of the LDL receptor family. It activates the canonical Wnt/β-catenin pathway, regulating osteoblastic bone formation. We investigated a 40-year-old Caucasian male presenting with congenital blind...

Objective: Evaluate the clinical characteristics of all Latin American pediatric patients with Gaucher disease type 1 (GD1) enrolled in the ICGG Gaucher Registry at baseline and investigate long-term outcomes and clinical benefit of prolonged imiglucerase/alglucerase therapy in patients with manifestations of GD1 at baseline.Methods: All Latin American patients with GD1 in the ICGG Gaucher Registry (NCT00358943) who were <18 years of age at the start...

The quantum leaps in scientific progress have frequently come from technological innovations, which can be referred to as the technology push. In the life-sciences this has been exemplified by the emergence of all kinds of ‘omics’ technologies reflecting the capacity to analyse complete and complex molecular mixtures in a hypothesis-free approach, also known as ‘fishing expeditions’ by more sceptical fellow scientists. Such approaches have been developed fo...

Introduction: The quantification of cortical BMD and thickness in QCT images remains challenging due to the limited spatial resolution of CT scanners. We simulated the impact of longitudinal cortical BMD and thickness changes on accuracy of cortical measurements using three different segmentation algorithms.Methods: A step function of varying width d (cortical thickness) and height (cortical BMD) and an additional step representing trabecular BMD was con...

Objective: The objective of this observational cross-sectional study is to identify the prevalence of vitamin D deficiency in healthy women in Greece, as reflected by the levels of 25-hydroxyvitamin D (25(OH)D), since recent data indicate that vitamin D deficiency can be common in countries previously considered as low risk (e.g. Mediterranean countries).Materials and methods: A population of 840 community dwelling women was recruited at the health promo...