Bone Abstracts

Osteoporosis pseudoglioma syndrome (OPPGS) is a rare autosomal recessive disorder characterised by congenital or juvenile-onset blindness, severe juvenile-onset osteoporosis, and skeletal fragility. OPPGS is caused by loss-of-function mutations in the LRP5 gene, a member of the LDL receptor family. It activates the canonical Wnt/β-catenin pathway, regulating osteoblastic bone formation. We investigated a 40-year-old Caucasian male presenting with congenital blind...

Bisphosphonates are the mainstay of medical therapy in the fracturing child with osteoporosis. The majority of the data in children pertains to i.v. pamidronate use in children and adolescents with osteogenesis imperfecta (OI), where pamidronate has been associated with improvements in bone mineral density, cortical thickness, vertebral shape, pain, mobility and height.1 Side-effects of pamidronate including acute phase response to the initial dose and retardation o...

Cadmium (Cd) is regarded as a risk factor for various bone diseases in humans and experimental animals. To compare effects of different routes of Cd administration on femoral bone structure, ten 4-month-old male Wistar rats (group A) were injected intraperitoneally with a single dose of 2 mg CdCl2/kg body weight and killed 36 h after Cd had been injected. Ten 1-month-old male rats (group B) were dosed with a daily Cd intake of 30 mg CdCl2/l in drinking wa...

Objective: Increase the percentage of elderly fracture patients undergoing a dual energy X-ray absorptiometry (DXA) measurement, and investigate why some patients did not respond to invitation to our fracture liaison service (FLS).Materials and methods: In four Dutch hospitals, fracture patients ≥50 years were invited for a DXA measurement and visit to our FLS. Patients who did not respond, were contacted by telephone. In patients diagnosed with os...

Introduction: Osteopenia is a well-known complication of anorexia nervosa (AN) in older adolescents and adults, especially in those with a long duration of the disease and a severe underweight.Aim: We investigated whether young premenarchal girls with AN have similar risk factors for a disturbed bone growth and mineralization.Methods: Twenty-four female premenarchal AN patients as well as 24 age and height matched female controls u...

Introduction: Despite similarities in upfront treatment, impairment of bone mineral density(BMD) varies in long-term adult survivors of childhood cancer (CCS). We studied for the first time whether genetic variation is involved in impairment of BMD in adult long-term CCS.Method: This cross-sectional single-center cohort study included 334 adult CCS (median follow-up time: 15.2 years (range 5.1–39.8); median age at follow-up: 26.1 years (range 18.1&#...

Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic cause of renal failure. Data from adult ADPKD population show increased fibroblast growth factor 23 (FGF23) levels while circulating Klotho levels decrease, with a low TmP/GFR even in patients with normal renal function. Moreover, in ADPKD animal models, cyst lining renal cells were demonstrated to produce FGF23, although the animals displayed FGF23 resistance. No data are available in a paediatr...

The R-spondins are a family of four small, secreted agonists of the Wnt signaling pathway. Growing evidence from both in vitro studies and in vivo models supports the major role of these proteins in the skeletal development processes. In humans, common genetic variation in the RSPO3 gene has been associated with BMD in large scale GWAS study.This study aimed at further investigation of the genetic and functional contributions of the R-s...

Few interventions directly compare equivalent calcium and vitamin D from dairy vs supplements on the same bone outcomes.Objectives and Methods: Using 41Ca tracer techniques, determine if 4 servings/d of dairy foods reduces Ca excretion more than an equivalent amount of Ca and vitamin D from supplements. Secondary objective was to evaluate the time course for change in Ca excretion.Design: In this crossover trial, postmen...

Introduction: Langerhans cell histiocytosis (LCH) is a monoclonal disorder characterized by proliferation and accumulation of atypical Langerhans cells. Bone involvement is particularly destructive and to date, no standard of care exists. Bisphosphonates are osteoclast inhibitors that could target the multinucleated giant cells within the LCH lesions and might be used to alleviate bone pain and the progression of disease.Objective: To evaluate the effica...