Bone Abstracts

Objectives: To elucidate the incidence and risk factors of skeletal toxicity in children with ALL treated with the dexamethasone-based DCOG-ALL9 protocol.Methods: Prospectively, the cumulative incidence of fractures was assessed in 672 patients and compared between different subgroups using the log-rank test. Serial measurements of bone mineral density of the lumbar spine (BMDLS) were performed in 399 ALL patients using dual energy X-ray absor...

Objectives: We recently demonstrated that cow’s milk allergic infants who received an amino acid-based formula (AAF) for 16 weeks as oral feeding had adequate mineral status (1). One factor that may negatively affect mineral solubility and bioavailability and hence mineral status, is high gastric pH (2), but data on this in infants are lacking. Therefore, the present study evaluates serum concentrations of phosphorus, calcium and magnesium in a subgroup of infants on AAF ...

Background: We identified a family with early onset X-linked osteoporosis and fracturesMethods: We performed whole exome sequencing of the X chromosome in three affected members. After discovering a putative pathogenic variant we performed Sanger sequencing of all exons of this gene in other members of this family and in 95 unrelated men suspected of OI type I without COL1A1/2 mutations. We also genotyped a SNP in this gene (minor allele frequency 0.02) ...

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...

There is discussed an interrelation of BMD, progressing of erosive and destructive changes in hands and feet with development of vertebral deformations in rheumatoid arthritis (RA).The aim: To receive data on bone mineral density (BMD), erosive and destructive changes in hands and feet and vertebral deformations in patients with RA.Materials/methods: In this research, it was included 106 women, with RA, age 23–69 years. In all...

Abstract not submitted...

Familial expansile osteolysis (FEO) is characterised by focal areas of increased bone turnover driven by bone-resorbing osteoclasts. The syndrome is caused by a heterozygous tandem insertion duplication mutation within the signal peptide region of TNFRSF11a (encoding receptor activator of NFκB; RANK). Our recent research has demonstrated that heterotrimeric receptor formation may hold the key to the disease phenotype. We have shown previously that, whilst homozygous overe...

Early-onset Paget’s disease of bone (ePDB), familial expansile osteolysis (FEO) and expansile skeletal hyperphosphatasia (ESH) are related syndromes caused by heterozygous tandem insertion duplication mutations within the signal peptide region of TNFRSF11a (encoding receptor activator of NFκB; RANK). Given that patients are always heterozygous for these mutations we have generated thirteen cell lines to investigate the molecular consequences of these mutations in...

Introduction and aims: Vitamin D deficiency is a prevalent disorder in developing countries. Clinical manifestations of the deficiency include musculoskeletal disorders, such as nonspecific muscle pain, poor muscle strength and low bone mineral density (BMD). The aim of this study was to determine the prevalence of vitamin D deficiency and low BMD in healthy Saudi women.Methods: The subjects of this cross-sectional study comprised 449 healthy Saudi women...

Objectives: Marfan syndrome (MFS) is a connective disorder caused by mutations in FBN1 gene which encodes the extracellular matrix protein fibrillin 1. Pathogenesis relies on a dysregulation of activated TGF-β. Cardiovascular, ocular and skeletal systems are involved with a variable expressivity. Findings evolve with age, making the diagnosis in children more difficult. Skeletal involvement includes disproportionate long bone overgrowth, scoliosis, and chest deformity. Al...