Bone Abstracts

Cole-Carpenter syndrome (CCS) is commonly classified as a rare Osteogenesis Imperfecta disorder. This was following the description of two unrelated patients with very similar phenotypes who were subsequently shown to have a heterozygous missense mutation in P4HB. Here, we report a 3-year old female patient who was diagnosed with a severe form of OI. Exome sequencing identified the same missense mutation in P4HB as reported in the original cohort, thus reinfo...

Heritability of bone mineral density (BMD) varies at skeletal sites, possibly reflecting different relative contributions of environmental and genetic influences. To quantify shared genetic influences across different sites, we estimated the genetic correlation of BMD at the upper limb (UL), lower limb (LL) and skull (S) obtained from whole body DXA scans, using bivariate genome-wide complex trait analysis (GCTA). The study (n=9395) combined data from the Avon Longitu...

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...

This paper reviews clinical reports of vitamin D deficiency rickets in neonates from 1930 onwards. In 24 reports there was good evidence of maternal deficiency. In some the diagnosis of the rickets led to the identification of symptomatic osteomalacia in the mothers; several had been severe and longstanding. Of the 15 mothers who had assays for serum 25-hydroxyvitamin D (25OHD) 13 had values <25 nmol/l (10 ng/ml) and 10 had values <12.5 nmol/l (5 ng/ml).<p class="a...

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...

Maternal vitamin D status has been positively associated with infant bone mass in observational studies. We therefore evaluated whether 1000 IU/day cholecalciferol during pregnancy would lead to greater offspring bone mass at birth, in a UK, multicentre, randomised, double-blind, placebo-controlled trial (MAVIDOS, ISRCTN82927713).At 12 weeks’ gestation, pregnant women with a serum 25-hydroxyvitamin D [25(OH)D] 25-100 nmol/l were randomised to either...

Crohn’s disease often results in abnormalities in bone strength, and ultimately increases the risk of fragility fracture. Up to 55% of patients with Crohn’s disease have bone mineral density in the osteopenia range up to 50% of osteoporosis. Glucocorticoid is frequently used in the treatment of Crohn’s disease and is associated with osteoporosis and increased fracture risk. It has been reported that osteoporotic fractures in patients with Crohn’s disease ar...

Objectives: Young male jockeys undertake calorie restriction and high volumes of physical activity during periods of musculoskeletal growth and development. Previous research shows that jockeys have compromised bone health1–4 and display disordered eating5–7. Restricted intakes of calcium and vitamin D, together with excessive amounts of exercise, increase the risk of osteoporosis in males8. The aim of this study was to establish whet...

Osteoclasts are highly specialized cell types, responsible for the resorption of bone matrix. Coordinated with osteoblasts they contribute to a proper bone turnover. An impaired or reduced function of the osteoclast leads to a pathogenic increase of the bone mass and finally osteopetrosis. Lysosomal hydrolases, as exemplied by CTSK and Acp5 (TRAP), are known to play an important role in the function of osteoclasts, and knockout mouse models of these proteins develop a bone res...

Aim & background: Evidence from genetic studies of osteoporosis and fracture risk indicate that bone mineral density (BMD) is genetically controlled. The low-density-lipoprotein-related receptor 5 (lrp5) gene is a known co-receptor in the canonical Wnt bone formation regulatory pathway. Although mutations found in this gene have been shown to regulate BMD in humans, and Lrp5 knockout mice had reduced bone mass, its role in the bone development/bone acquis...