Bone Abstracts

Osteoporosis and vertebral fractures are recognised complications of ankylosing spondylitis (AS) but the underlying causes are incompletely understood. Osteoprotegerin (OPG) is a decoy receptor for RANK-L and inhibits osteoclastogenesis. We have previously demonstrated that antibodies to OPG (OPG-Ab) are associated with osteoporosis and increased bone turnover in patients with autoimmune diseases. The aim of this study was to determine whether OPG-Abs were detectable in AS pat...

Skeletal diseases are a large and diverse group of rare monogenic phenotypes and there are more than 450 unique and well-characterised chondrodysplasia phenotypes that range in severity from relatively mild to severe and lethal forms. Studying these genetically tractable chondrodysplasia phenotypes provides insight into disease pathways that may be relevant to the more common and polygenic forms of OA.Pseudoachondroplasia (PSACH) and multiple epiphyseal ...

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Background: Postmenopausal women are at high risk for osteoporosis, and early adoption of osteoporosis-preventative behaviours, such as physical activity and dietary calcium intake, can help mitigate this risk. Behavioural studies have shown that knowledge and health beliefs are key factors associated with adoption of healthy behaviours. There are few such studies regarding osteoporosis in South America. Our aim was to conduct an exploratory study evaluating osteoporosis-relat...

Objective: Cystinosis is a rare lysosomal storage disorder caused by loss-of-function mutations of the CTNS gene, encoding for cystinosin symporter that mediates cysteine efflux from lysosome. ~95% of cystinotic patients display nephropathic Fanconi’s syndrome, short stature, osteopenia and rickets. In this study we evaluated whether the absence of cystinosin primarily affects bone remodeling activity.Methods: We analyzed bone phen...

Many disorders cause osteosclerosis, and many exclusively affect adults. Pediatricians are likely to encounter those that are Mendelian diseases, with most still classified as ‘dysplasias’ although now understood at the gene level. Thus, there is promise for defining their molecular and biochemical pathogeneses, and for developing targeted medical treatments. Sclerosing bone dysplasias too have become the ‘turf’ of the metabolic bone disease specialist. How...

Biographical DetailsMichael P Whyte is Professor of Medicine, Pediatrics, and Genetics at the Washington University School of Medicine, a staff member of Barnes-Jewish Hospital and St. Louis Children’s Hospital, and Medical-Scientific Director at the Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children in St. Louis, Missouri, USA.<p class="abst...

Objectives: Gorham-Stout disease (GSD) is a very rare disorder characterized by extensive angiomatous proliferation and progressive osteolysis without new bone formation. Only ~200 patients were reported. The quality of life is very poor since patients display pain, fractures, functional impairment and swelling of the affected regions. The ethiology of GSD is unknown. We aim to investigate the bone phenotype and to identify molecular and cellular defects in GSD patients.<p...

Introduction: The vitamins as B6, C, or D are involved in serotonin metabolism but mostly in central neurotransmitter pathways. There are very few clear data related to 25-OH vitamin D status and serum serotonin (SS) levels.Aim: We analyze the SS and 25-OH D.Materials and methods: We included women in menopause. The serum serotonin (SS; normal 100–400 ng/ml) and 25-OH vitamin D (normal 30–100 ng/ml) were performed in fast...

High doses of BMPs are needed to achieve clinical success in bone fracture repair with currently available devices. BMP6 has a higher potency in stimulation of bone formation then its paralogue BMP7 due to less susceptibility to Noggin. The BMP6 carrier is a whole blood derived coagulum (WBCD) from the peripheral blood (OSTEOGROW). This WBCD, as an endogenous biocompatible material, significantly reduces the inflammatory response associated with current BMP-based treatments. M...