Bone Abstracts

Biographical DetailsFrank RutschFrank Rutsch is a consultant and Associate Professor in Pediatrics at Münster University Children’s Hospital, Münster, Germany. He graduated from Münster University Medical School in 1992 and took part in the Pediatric residency program in Dresden University and Dortmund Municipal Hospital, Germany...

Introduction: Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis is a rare autosomal recessive renal tubular disease caused by mutations in Claudin 16 and 19 genes, often complicated by progressive renal failure. We describe the clinical and genetic features and management of this condition in three patients at our centre.Case 1: A 3-year-old south Asian boy with consanguinity presented with hypocalcemic seizures. Investigations revealed h...

Objective: Osteogenesis imperfecta (OI) is primarily characterized by bone fragility but is also associated with lower muscle mass and function. As muscle mass and bone mass are closely linked, an intervention that increases muscle mass should also increase bone mass. Here we investigated the effect of a novel activin receptor IIB ligand trap, ACE-2494 (Acceleron Pharma), on skeletal muscle mass and bone properties in a mouse model of severe dominant OI, the Col1a1<su...

β-tricalcium phosphate (β-TCP) biomaterials have been approved for the repair of osseous defects. However, in large defects, the substitution of biomaterial by authentic bone is inadequate to provide sufficient long-term mechanical stability. We aimed to develop composites of β-TCP ceramics and receptor activator of nuclear factor κ-B ligand (RANKL) to enhance the formation of osteoclasts thereby stimulating material resorption. RANKL was immobilized on &#9...

Introduction: The reported prevalence of secondary causes for osteoporosis in men and women aged ≥50 years with a fracture is 35–60%, but data on these causes are scarce in patients with osteopenia and fractures.Objective: To investigate whether secondary causes for osteoporosis are prevalent and may contribute to fracture risk in patients aged ≥50 years with osteopenia and a recent fracture.Materials and methods: ...

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Children with osteogenesis imperfecta (OI) still suffer from frequent fractures, despite bisphosphonate treatment. Thus new therapeutic approaches are needed. Sclerostin is a protein that is thought to inhibit bone formation. Treatment with sclerostin antibodies (SclAB) increases bone mass in animal models and in clinical trials and may be a rational therapy for OI as well.Transgenic (TgOI) Col1a1Jrt/+ mice were gene...

Background: Crohn’s disease (CD) is an inflammatory bowel disease which affects many organ systems including the skeleton. In children with CD, bone mineral density is frequently low. Bone metabolic abnormalities, including lower biochemical measures of bone turnover (NTX) as well as decreased bone formation indices at the tissue level have been reported. The aim of our study was to gain information on the bone matrix mineralization in CD.Methods: W...

Objectives: Hajdu–Cheney syndrome (HCS) is an ultra-rare, genetic bone disease caused by mutations in the NOTCH2 gene. HCS is characterised by dysmorphic features, acroosteolysis, and high turnover osteoporosis. Sparse evidence in adult HCS suggests increased BMD and reduced bone turnover during bisphosphonate (BP) therapy. A single paediatric case report indicated beneficial effects of i.v. pamidronate therapy. We present four paediatric patients with HCS, their...

Introduction: The matrilin-3 polymorphism T298M has been described to be associated with hand osteoarthritis in the carpometacarpal joint 1 (CMC1) and with spinal disc degeneration. In vitro studies revealed that expression levels, processing and secretion of matrilin-3 T298M were similar to the wt protein. Structural analysis indicated an impact on the formation of collagen II/IX/XI heterofibrils, whereas the binding to collagen was not affected. We have now generate...