Bone Abstracts

see P483....

Bruck syndrome, a disorder caused by bi-allelic mutations in either PLOD2 or FKBP10, is characterized by flexion contractures and bone fractures and shows strong clinical overlap with the brittle bone disease Osteogenesis Imperfecta. PLOD2 encodes the Lysyl hydroxylase 2 (LH2) enzyme, which is responsible for the hydroxylation of lysine residues in the type-I collagen telopeptides. This hydroxylation directs cross-linking of the collagen fibrils in t...

Objectives: Osteogenesis imperfecta (OI) is a heritable disorder characterized by bone deformity and skeletal fragility. Cartilage associated protein (CRTAP), proline 3-Hydroxylase 1 (P3H1) and Cyclophylin B (PPIB) are components of the endoplasmic reticulum (ER)-resident complex involved in the 3-hydroxylation of specific proline residues in collagen type I α chains. Mutations in these proteins are responsible for recessive OI type VII, VIII and IX, respectively. Murine ...

Introduction: Osteogenesis imperfecta is a rare disease leading to immobility by recurrent fractures, immobilization, short stature and muscular weakness. Beside drug treatment and surgical procedures physiotherapy is the most important treatment approaches to increase mobility. The objective of our analysis was to evaluate the effect of a new standardized 12 months physiotherapy concept including whole body vibration over 6 months on motor function and bone mineral density in...

Background: Osteogenesis imperfecta (OI) is a rare disease characterized by increased fracture rate and bone deformities. Patients are classified by phenotype and most are affected by mutations in COL1A1/2.Patients with OI type V present with specific clinical symptoms including hyperplastic callus formation, only mildly decreased height, metaphyseal lines and a calcification of the membrane interossea of the forearm. The disease causing mutation for OI ...

Dietary Ca insufficiency is a common finding, independently of socio-economic status. A low Ca intake (CaI) increases bone turnover leading to bone loss. This effect becomes more important during estrogen withdrawing. We previously found that a mixture of galactooligosaccharides (GOS) and fructooligosaccharides (FOS) enhances Ca and P absorption (Abs), being a suitable tool to optimize its bioavailability and consequently bone health. The present study evaluated the effect of ...

A mixture of Galacto-oligosaccharides (GOS) and Fructooligosaccharides (FOS) are added to commercial infant formula to promote an intestinal microbiota similar to that prevalent in breast-fed infants to improve Ca bioavailability and general health, but their mechanisms are under debate.Our objective was to evaluate the beneficial effects of the mixture of GOS/FOS added to infant formulae, on the absorption of Ca, Mg and P of a low Ca diet. Changes in in...

Biographical DetailsMichael P Whyte is Professor of Medicine, Pediatrics, and Genetics at the Washington University School of Medicine, a staff member of Barnes-Jewish Hospital and St. Louis Children’s Hospital, and Medical-Scientific Director at the Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children in St. Louis, Missouri, USA.<p class="abst...

Background: Osteogenesis imperfecta (OI) as a rare disease is characterized by reduced bone mass, increased fracture rate, bone deformities and skeletal pain.Currently patients are treated with i.v. bisphosphonates regardless of the underlying mutation.Recently the gene causing OI type VI was described (SERPINF-1, altered RANKL-pathway). This leads to a new understanding of the underlying pathophysiology and offered a new therapeut...

Osteogenesis imperfecta is a rare disease leading to multiple fractures, skeletal deformities and scoliosis due to a reduced bone mass. Pathological fractures caused by inadequate traumata are the most severe symptom. More than 85% of patients are affected by mutations in COL1A1/A2 impairing quantity and quality of collagen. At present no approved drugs for OI treatment in childhood are available. A single centre prospective pilot study was performed to assess safety and effic...