Bone Abstracts

Background: Final stature is a result of concomitant growth hormone (GH)-IGF1 axis integrity, a healthy environment and genetic background. Occasionally, growth occurs despite remarkable impairment in hormone profile. Presenting problem: An uncommon case of longitudinal growth in a boy with very low IGF1 concentrations and clinical diagnosis of osteopetrosis. Clinical management: We report on the case of a 19 year-old male patient with the diagnosis of osteopetrosis who had a ...

Objective: Evaluate the clinical characteristics of all Latin American pediatric patients with Gaucher disease type 1 (GD1) enrolled in the ICGG Gaucher Registry at baseline and investigate long-term outcomes and clinical benefit of prolonged imiglucerase/alglucerase therapy in patients with manifestations of GD1 at baseline.Methods: All Latin American patients with GD1 in the ICGG Gaucher Registry (NCT00358943) who were <18 years of age at the start...

Objectives: Achondroplasia, the most common form of short limb dwarfism, is a rare genetic disorder caused by a gain-of-function mutation of the FGFR3 receptor (FGFR3-G380R) and there are currently no effective treatments available. We have developed TA-46, a recombinant human soluble FGFR3(sFGFR3) form of the FGFR3 cell surface receptor containing an extra-cellular ligand-binding domain, including three IgG domains, which confer binding specificity. TA-46 is designed to block...

Background: The ‘adequate’ level of 25-hydroxyvitamin D (25OHD) in children remains unclear. For bone outcomes, parathyroid hormone (PTH) is an important functional biomarker. Prior studies have shown too weak a correlation between 25OHD and PTH levels to determine adequate 25OHD level.Objective: To determine adequate 25OHD level(s) in children using a normal PTH value of 65 pg/ml while adjusting for calcium intake.Design...

Objectives: Bone disease is now well described in cystic fibrosis adult patients. CF bone disease is multifactorial but many studies suggested the crucial role of inflammation and chronic pulmonary infection. The objectives of this study were to assess the prevalence of osteoporosis in a current adult CF population and to examine its relationship with infections and inflammation.Methods: Patients were recruited in the adult CF Lyon Centre and assessed in...

Multiple myeloma is characterized by extensive bone marrow tumour and destructive osteolytic lesions. Both increased bone resorption and suppressed bone formation result in lesions and pathological fractures. Anti-resorptive therapies prevent further bone loss but patients continue to fracture, arguing for new therapies which increase bone strength. Anti-Sclerostin (Anti-Scl) is a potent stimulator of bone formation, is currently in clinical trials for osteoporosis, however it...