Bone Abstracts

Biographical DetailsLaurence Legeai-Mallet is currently Director of Research at Imagine Institute-Paris Descartes University. She received her PhD in genetic from University of Paris V, she is a member of International skeletal dysplasia Society, European Skeletal Dysplasia Network and the French reference center of bone dysplasias. She has been involved in the field of skeletal disease s...

Objective: Children with hypophosphatasia (HPP) treated with asfotase alfa in a Phase 2 study (NCT00952484) and its open-label extension (NCT01203826) experienced significant improvements in skeletal mineralization and physical function that were sustained through 5 years of treatment (1). Herein, we report data from these studies with a maximum of 7 years of treatment.Methods: Children with HPP aged 6–12 years at baseline received asfotase alfa (3 ...

Objective: We compared the efficacy and safety of burosumab, a monoclonal antibody against FGF23, to conventional therapy [oral phosphate and active vitamin D (Pi/D)] in children with X-linked hypophosphatemia (XLH).Methods: In this Phase 3 trial (NCT02915705), 61 children with XLH (1-12 years-old) were randomized 1:1 after a 7-day Pi/D washout to receive burosumab starting at 0.8 mg/kg SC Q2W or reinitiate Pi/D optimally titrated by investigators. Eligi...

Introduction: Hypophosphatasia (HPP) characterized by reduced mineralization occurs from mutations in the tissue non-specific alkaline phosphatase (ALPL) gene. Individuals harbouring bi-allelic mutations are generally reported to be severely affected. We report the findings of in vitro functional studies following site-directed mutagenesis in bi-allelic mutations causing extreme clinical phenotypes; severe perinatal and asymptomatic HPP.Objectiv...

Introduction: Intracellular fat within muscle and visceral tissue has been suggested to adversely influence bone development.Design: We aimed to compare associations between intramuscular and subcutaneous fat and cortical bone outcomes in young adults, in cross-sectional analyses based on the Avon Longitudinal Study of Parents and Children.Method: Data were collected from a research clinic conducted at 17 years of age. Intramuscula...

Introduction: Osteocalcin (OC) is a marker of bone formation but also seems to play a hormonal role in the regulation of glucose and energy metabolism. Recently, an association of BMI with a haplotype composed of three single nucleotide polymorphisms (SNPs) in the gene for OC, located on chromosome 1q22, was observed in ethnically homogeneous European pedigrees.Aim: The aim of the study was to test the association of these three polymorphisms in the gene...

Bone is a complex structure associating cells to an extracellular organic phase, including collagen and non collagenous proteins (NCPs), in close association with apatite mineral platelets. Although bone has given rise to extensive studies, the exact part played by NCPs in nucleating or inhibiting the mineral phase remains controversial. The present study aimed to better understand the functions of a major mineralizing protein, dentin matrix phosphoprotein 1 (DMP1), an acidic,...

Hydroxyapatite (HA) has been widely used as a biocompatible ceramic in many areas of medicine, mainly for contact with bone tissue, due to its resemblance to mineral bone. Owing to the nanofeatures of bone tissue, new nano-HA based materials are among the most promising challenges in bioactive ceramics. Recently, it was observed that fluoroquinolones have the ability to interfere with osteoclastogenesis, in standard polystyrene cell culture plates. The aim of this work is to a...

Objective: To investigate i) the analytic stability of PTH in venous blood specimens in serum tubes processed at different time intervals after collection compared to immediately processed blood samples collected in K2EDTA tubes, and ii) whether storage of samples in serum tubes for 5 years at −20 °C had an effect on stability of PTH.Methods: Venous blood samples were collected from ten healthy Caucasian females. One K2EDTA tube and three seru...

Aim: To investigate the acute effects of oral glucocorticoids in doses used in clinical practice on biochemical indices of function of osteoclasts, osteoblasts and osteocytes.Methods: In 17 adult patients suffering from various medical pathologies requiring systemic steroid therapy that were never before treated with glucocorticoids, the glucocorticoid treatment was initiated (mean prednisolone equivalent dose of 23.1±12.7 mg/day, range 10–50 m...