Searchable abstracts of presentations at key conferences on calcified tissues

ba0006lb15 | (1) | ICCBH2017

Consensus paper – Physiotherapy in children with OI

Semler Oliver , Mueller Brigitte , Mekking Dagmar

Physiotherapy is one of the most important therapeutic approaches in Osteogenesis imperfecta (OI) besides medical and surgical treatment. At the moment there are no guidelines and no consensus about appropriate physiotherapeutic concepts for children with OI. In each country different preferences regarding the therapeutic approaches (neuro developmental techniques, active and passive training, treadmill training, pool therapy etc) are used. There are hardly any scientific rese...

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...

ba0002oc19 | Miscellaneous | ICCBH2013

New therapeutic approach in OI VI: suppression of bone resorption using the RANKL antibody denosumab

Hoyer-Kuhn Heike , Semler Oliver , Netzer Christian , Dotsch Jorg , Schonau Eckhard

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...

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...

ba0007p138 | (1) | ICCBH2019

How early is early enough – Bisphosphonate treatment in Osteogenesis imperfecta

Hoyer-Kuhn Heike , Heistermann Johanna , Schonau Eckhard , Rehberg Mirko , Semler Oliver

Objective: Osteogenesis imperfecta is characterized by hereditary skeletal fragility. Bisphosphonates are the first line medical treatment in moderate and severe OI types III/IV. There is no consensus regarding treatment beginning and treatment regimen in the first years. Objective of the presented project was the evaluation of the therapeutic effect of 1 year of bisphosphonate treatment (BP; neridronate i.v. 2 mg/kg body weight every 3 months) on vertebral shape and mobility ...