Bone Abstracts

Background and methods: A specific skeletal complication in children with CKD is growth impairment. The effects of recombinant human growth hormone (rhGH) therapy on bone turnover and bone material quality are not well understood. Bone matrix mineralization density distribution (BMDD) as assessed by quantitative backscattered electron microscopy (qBEI) is an important determinant of bone material quality and reflects bone turnover (average tissue age) and mineralization kineti...

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...

see PP355....

Classical osteogenesis imperfecta (OI) is caused by mutations in the two genes encoding type I collagen. OI is associated with low bone mass and abnormally high bone matrix mineralization. The Brtl/+ OI mouse is a knock-in model caused by a glycine substitution in one COL1A1 allele. Brtl/+ pups display 30% perinatal lethality; survivors have small size and brittle bone. Unexpectedly, homozygous Brtl/Brtl pups, producing only mutant collagen, have normal survival rates...

Introduction: Elevated FGF-23 serum levels are induced by hyperphosphatemia and are linked to poor skeletal mineralization and adverse outcomes including vascular calcification and mortality. Recently, it was shown that FGF-23 levels are substantially elevated in acute kidney injury (AKI), and that higher levels in AKI are associated with a greater risk of adverse outcomes.Methods: In 25 vitamin D deficient (25(OH)D <20 ng/ml) critically ill adults w...

In clinical studies, denosumab (DMAb) administration up to 8 years is associated with continued increases in bone mineral density (BMD) and low fracture incidence despite persistently low bone turnover markers and limited iliac crest tetracycline labelling (Papapoulos 2013). We tested the hypothesis that, with persistently low bone remodelling, BMD increases may result from a non-remodelling dependent mechanism to accrue bone matrix. We examined the fluorochrome labelling patt...

Mutations in LRP5 cause a variety of phenotypes, including high bone mass and low bone mass disorders. In patients with high bone mass, different heterozygous mutations have been described, all of them clustering in a region including the binding pocket for DKK1 and sclerostin. The pathogenic mechanism is thought to be a gain-of-function mediated by an impaired inhibition of the canonical Wnt signalling pathway, thereby leading to increased bone modelling.<p class="abstext...

Transient receptor potential vanilloid channels (TRPVs) have been implicated in Ca2+ homeostasis and bone metabolism. In particular, TRPV4 deficiency was shown to cause sexual dimorphism in bone metabolism and osteoporotic fracture risk. Cortical bone structure was reported to be altered in male TRPV4 knock-out (TRPV4−/−) mice but not in female TRPV−/− mice compared to sex-matched wildtype (TRPV4+/+) animals.To gain knowledge on t...

Objectives: Osteogenesis imperfecta (OI) is a bone fragility disorder associated with reduced muscle size, dynamic muscle function and mobility. This paired randomised controlled pilot study assessed the effect of whole body vibration (WBV) training on bone density and geometry, muscle size and function, mobility, and balance in children with OI.Methods: Twenty-four children (5–16 years) with OI types 1,4 and limited mobility (defined as a Childhood...

Background: Osteogenesis imperfecta (OI) type VI is a rare recessive disease that may present with long bone fractures in early childhood. Bone in this condition is particularly brittle; the resulting pattern of long bone fractures and lack of distinct radiographic findings can make the diagnosis less obvious than in other types of OI. We report 2 unrelated children who presented with long bone fractures and were suspected of having suffered physical abuse with removal of pare...