Searchable abstracts of presentations at key conferences on calcified tissues

ba0004p65 | (1) | ICCBH2015

Results of a specialized rehabilitation approach in osteogenesis imperfecta

Semler Oliver , Hoyer-Kuhn Heike , Stark Christina , Schoenau Eckhard

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...

ba0002op4 | (1) | ICCBH2013

A new start-codon in IFITM5 causes osteogenesis imperfecta type V

Semler Oliver , Hoyer-Kuhn Heike , Garbes Lutz , Netzer Christian , Schoenau Eckhard

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 ...

ba0004oc7 | (1) | ICCBH2015

Osteogenesis imperfecta: a pilot trial on treatment with the RANKL-antibody denosumab

Hoyer-Kuhn Heike , Netzer Christian , Hero Barbara , Schoenau Eckhard , Semler Oliver

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...