Bone Abstracts

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...

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) 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...

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 ...

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...

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 ...