Bone Abstracts

Mutations in the C-propeptide cleavage site of both COL1A1 and COL1A2 cause dominant high bone mass (HBM) osteogenesis imperfecta (OI), characterized by bone hypermineralization. To elucidate the role of C-propeptide processing in bone formation, we generated heterozygous HBM mice in which both residues of the COL1A1 cleavage site were mutated to prevent cleavage by BMP1. HBM mice are smaller than WT in both weight and length and have extremely brittle bones....

High Bone Mass (HBM) osteogenesis imperfecta (OI) is caused by dominant mutations in the C-propeptide cleavage site of COL1A1 or COL1A2, characterized by bone hypermineralization. To elucidate the role of C-propeptide processing in bone mineralization and development, we generated heterozygous HBM mice with both residues (Ala-Asp) of the COL1A1 cleavage site substituted (Thr-Asn) to prevent processing by BMP1. Two, 6- and 12-month WT and HBM bones were examin...

Background: Rickets is a disorder of the growing child arising from impaired mineralisation of the growth plate and osteoid. The most common cause of NR in the UK is thought to be secondary to vitamin D deficiency [VDD; serum 25-hydroxyvitamin D (25OHD) <25 nmol/l], although in some African & South Asian countries dietary calcium deficiency (DCaD) by itself, or together with VDD is an important cause of NR (Ann Trop Paediatr. 2006;26:1–16). Currently, the data on ...

Biographical DetailsDr Leanne M Ward is an Associate Professor of Pediatrics at the University of Ottawa where she holds a Research Chair in Pediatric Bone Health. She is the Medical Director of the Pediatric Bone Health Clinical and Research Programs at the Children’s Hospital of Eastern Ontario (CHEO) and a pediatric endocrinologist within the Division of Endocrinology and Metaboli...

Biographical DetailsBarbara M Misof is Staff Scientist at the Ludwig Boltzmann Institute of Osteology, Vienna, Austria. She completed her PhD in Physics and Postgraduate Education in Medical Physics at the University of Vienna in 2000. In 2002, she received the Herbert-Czitober-Research Award of the Austrian Society of Bone and Mineral Research. Her areas of interest are bone material pro...

Background: We have previously shown that MLO-Y4 osteocytes express a number of P2 receptors, respond to a broad range of nucleotides (e.g. UTP) by increasing intracellular calcium concentration and release ATP upon both mechanical and UTP stimulation. The aim of this study therefore is to investigate how the osteocytes release ATP and whether there is a difference in release pathway depending on the type of stimulus.Methods: ATP release was investigated...

Traumatic injuries of the bones of various etiologies are accompanied not only a violation of their integrity, but also the development of a system osteopenic syndrome, which causes disorder neurohumoral regulation of the organism and has a negative effect on the structural and functional state of the skeletal tissues of other parts of the skeleton. The information concerning the characteristics of changes in the parameters of growth of molars of the mandible in the literature...

Objectives: The aim of the study was to examine experimentally the possibility smoothing of adverse effects of «fracture syndrome» in the parameters of the growth of the molar row of the mandible with implant in the proximal tibial shaft biogenic hydroxyapatite, saturated with iron at concentrations of 0.05, 0.15 and 0.50%.Methods: For the experiment were collected 168 white mature male rats were divided into four groups: 1st group, animals tha...

Background: The co-occurrence of achondroplasia with Trisomy 21 is extremely rare, with only a handful of published case reports in the literature.Presenting Problem: A baby girl had an antenatal diagnosis of incomplete atrioventricular septal defect (AVSD), and a subsequent postnatal diagnosis of Trisomy 21. At birth she had respiratory distress and required CPAP until 5 days of life. AVSD was confirmed on postnatal ECHO. Phenotypic traits consistent wi...

Experimental studies suggested that both, oxidative stress and the Wnt pathway, are important factors in the regulation of bone remodeling. Thus, low antioxidant levels and elevated markers of Wnt pathway inhibitors (sclerostin) levels are associated with a reduced bone mineral density and increased risk of osteoporotic fracture. Whether oxidative stress and the Wnt pathway are related to fracture risk is poorly understood.M&M: Cross-sectional study ...