Bone Abstracts

Background and aims: Bone and joint infections like osteomyelitis and septic arthritis occur in ~3–12/100.000 children per year in high-income countries with predominance in males. The most common causative pathogen is Staphylococcus aureus, however, only in 50% pathogen detection succeeds. The aim of this study is to describe clinical characteristics of osteomyelitis and septic arthritis in children recruited within the EUCLIDS network (<a href="http://www.eucli...

Background: Cabozantinib (CBZ) is a receptor tyrosine kinase inhibitor with activity against MET, VEGFR2, FLT3, c-KIT, and RET. Pre-clinical studies in models of prostate cancer bone metastasis demonstrated that CBZ treatment induced both a suppression of tumour growth and an alteration in bone remodelling, suggesting that both tumour and bone microenvironment represented potential CBZ targets. This is the first study exploring the potential direct activity of CBZ in bone usin...

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...

Objective: Bone fractures are very common in children and their number is growing every year. Vitamin D has a proven role in the prevention of fractures. In the recent study, we have shown that children with low-energy fractures have significantly lower vitamin D blood levels compared to the children without fractures. Our data indicate that higher levels of vitamin D reduced the risk of fracture by 1.06 times (P<0.0005).Past decade has seen...

Aims: Using an extensive bioinformatic approach we identified integrin α5 subunit as a novel potential target to treat bone dissemination from breast cancer. Aim of this study is to confirm the value of this target.Methods: Integrin α5 mRNA expression levels were quantified by qRT-PCR, using radically resected primary tumors of 427 breast cancer patients. α5 expression at protein level by IHC on primary tumor was correlated, in an addition...

Background: Osteogenesis imperfecta (OI) is a heterogeneous group of inherited disorders of bone formation, resulting in low bone mass and an increased propensity to fracture. It is a variable condition with a range of clinical severity. About 90% of patients with a clinical diagnosis of OI have a mutation in the COL1A1 or COL1A2 genes, which shows an autosomal dominant pattern (AD) of inheritance. Other genes are associated with the autosomal recessive (AR) ...

Genetic skeletal diseases (GSDs) are an extremely diverse and complex group of rare genetic diseases that primarily affect the development and homeostasis of the osseous skeleton. There are more than 450 unique and well-characterised phenotypes that range in severity from relatively mild to severe and lethal forms. Although individually rare, as a group of related genetic diseases, GSDs have an overall prevalence of at least 1/4000 child. Qualitative defects in cartilage struc...

Biographical DetailsMichael D Briggs obtained his PhD at the MRC Clinical Research Centre, Harrow, studying the genetic basis of osteogenesis imperfecta. He undertook postdoctoral work at UCLA identifying the genetic basis of chondrodysplasias. In 1996 Mike moved to Manchester as an AR-UK Fellow to continue studying disease mechanisms in chondrodysplasia. In 2004 he was awarded a Wellcome...