Bone Abstracts

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Classical osteogenesis imperfecta (OI) is caused by mutations in the two genes encoding type I collagen. OI is associated with low bone mass and abnormally high bone matrix mineralization. The Brtl/+ OI mouse is a knock-in model caused by a glycine substitution in one COL1A1 allele. Brtl/+ pups display 30% perinatal lethality; survivors have small size and brittle bone. Unexpectedly, homozygous Brtl/Brtl pups, producing only mutant collagen, have normal survival rates...

Osteogenesis imperfecta (OI) type V is caused by a unique dominant mutation (c.−14C>T) in IFITM5, which encodes BRIL, a transmembrane ifitm-like protein most strongly expressed in osteoblasts, while type VI OI is caused by recessive null mutations in SERPINF1, encoding pigment epithelium-derived factor (PEDF). We identified a 25-year-old woman with severe OI, whose dermal fibroblasts and cultured osteoblasts displayed minimal secretion of PEDF, but ...

Background: Children with inflammatory bowel disease (IBD) have reduced bone mineral density (BMD). The aim of this study was to investigate whether changes in patient’s cellular immune response correlate with reductions in BMD.Method: Children undergoing lower gastrointestinal endoscopy disease were approached with an aim of recruiting 15 patients newly diagnosed with Crohn’s Disease (CD) and 15 healthy controls. Lymphocytes were isolated from...

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...

Objective: This study aimed to evaluate the efficacy of the treatment with pamidronate disodium (PD) with respect to the increase of bone mineral density (BMD) in patients with osteogenesis imperfecta (OI).Patients and methods: We evaluated nine patients (six boys) with OI (four with type III, four with type IV, one with type I) treated with PD from 4.68 to 7.92 years (mean±S.D.: 6.75±1.38 years). Intravenous PD was administered ...

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...