Bone Abstracts

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 ...

Chondrosarcomas are cartilage-forming, poorly vascularized tumors. With an estimated annual incidence of 1 in 200 000, they represent the second malignant primary bone tumor of adults after osteosarcoma. These tumors are resistant to chemotherapy and radiotherapy, surgical excision remaining the only therapeutic option. However, very few cell lines and animal models are available, and the mechanisms behind their chemoresistance remain largely unknown. Our goal was to establish...

DMAb increases BMD and reduces bone resorption and risk of vertebral, nonvertebral and hip fractures in women with PMO. Transiliac crest bone biopsies in 47 subjects treated with DMAb for 1–3 years showed reduced bone turnover vs 45 Pbo-treated subjects, which reversed on treatment cessation. Since bone turnover reduction is sustained and fracture incidence low over 6 years’ DMAb treatment, we evaluated DMAb’s effects on tissue-level remodelling in the FREEDOM E...

see PP60....

Neurofibromatosis type 1 (NF1) is a genetic disorder with an incidence of 1/3000. Inactivating mutations in the NF1 gene cause Ras-MEK overstimulation, and predisposes NF1 patients to cancer. A new generation of MEK inhibitors (PD0325901 and AZD6244) are under clinical trials in cancer patients, including NF1 patients. Congenital pseudarthrosis of the tibia is a major complication for NF1 patients, and associates with loss-of-heterozygosity of the NF1 gene. The primary aim of ...

Introduction: Recessive osteogenesis imperfecta (OI) is caused by mutations in genes encoding proteins involved in post-translational interactions with type I collagen. Types VII–IX OI involve defects in the collagen prolyl 3-hydroxylation complex, which modifies α1(I)Pro986. PPIB encodes CyPB, a complex component with PPIase activity and the major isomerase facilitating collagen folding. We investigated the role of CyPB in collagen post-translational modifications a...

Background and Objectives: The relations among cortical volumetric bone mineral density (CortBMD) and comprehensive measures of mineral metabolism have not been addressed in chronic kidney disease (CKD). The aim was to identify determinants of CortBMD in childhood CKD. A secondary objective was to assess if CortBMD was associated with subsequent fracture.Design/participants: This prospective cohort study in children, adolescents and young adults (ages 5&...

Recent studies have demonstrated that the global or osteoblast-specific deletion of neuropeptide Y Y1 receptor (Y1R), as well as the pharmacological blockade of Y1R, leads to pronounced anabolic effects in bone metabolism. This suggests that anti-Y1R drug therapy might have clinical applications for the prevention/recovery of bone loss occurring in osteoporosis. Given the high fracture incidence in this target population, it remained...

Recessive osteogenesis imperfecta (OI) is caused by mutations in genes encoding proteins involved in post-translational interactions with type I collagen. A founder mutation in a new gene responsible for recessive OI has recently been reported in Bedouins from Israel and Saudi Arabia, who have a homozygous deletion of TMEM38B exon 4 and surrounding intronic sequence. TMEM38B encodes TRIC-B, an integral ER membrane monovalent cation channel involved in Ca...

see PP355....