Bone Abstracts

Objective: The significance of low alkaline phosphatase (ALP) is often not recognised by clinicians. It is the hallmark of hypophosphatasia and this oversight leads to delays in diagnosis, inappropriate treatment and potentially harm. Using the standard that an abnormal result should be recognised by the clinician and the potential cause and need for further investigation documented in the medical records we conducted an audit of our practice at the Royal National Orthopaedic ...

Background: Camurati-Engelmann disease (CED) is a rare bone dysplasia characterised by hyperostosis and sclerosis of the diaphyses of the long bones and skull. It is caused by autosomal dominant gain-of function mutations within TGFB1, which result in increased activity of transforming growth factor β1 (TGF-β1). It typically presents in mid-childhood with bone pain, myopathy and progressive immobility. Evidence for treatment is based on a number of case repo...

A mixture of Galacto-oligosaccharides (GOS) and Fructooligosaccharides (FOS) are added to commercial infant formula to promote an intestinal microbiota similar to that prevalent in breast-fed infants to improve Ca bioavailability and general health, but their mechanisms are under debate.Our objective was to evaluate the beneficial effects of the mixture of GOS/FOS added to infant formulae, on the absorption of Ca, Mg and P of a low Ca diet. Changes in in...

Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary disorder characterized by isolate renal phosphate wasting, hypophosphatemia, and inappropriately normal 1,25(OH)2D3 levels. ADHR is caused by mutations in FGF23 protein that actively regulates phosphate homeostasis. In contrast to X-linked dominant hypophosphatemic rickets, ADHR shows incomplete penetrance, variable age at onset, and in rare cases resolution of the phosphate-wasting defect...

Introduction: Currently, the only available method to reliably predict osteoporotic fractures is represented by bone mineral density (BMD) measurements on proximal femur or spine, which require the use of X-rays. Aim of this study is to illustrate working principles and feasibility of a new ultrasound (US) method for bone densitometry and osteoporosis diagnosis applicable on both proximal femur and spine.Methods: A new fully automatic algorithm was devel...

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...

Acute phase reaction (APR) is the most frequent side effect following i.v. nitrogen-containing bisphosphonates (N-BPs) infusion. A recent observation in osteoporotic women treated with N-BPs evidenced a negative association between 25(OH)D levels and APR, likely due to the immuno-modulatory effects of vitamin D on γδTcells. However, this association remains to be demonstrated in patients with Paget’s disease of bone (PDB). Moreover whether vitamin D supplementat...

During early life undernutrition impairs normal weight and height gain that affects bone health. During recovering it is required an extra-amount of Ca to ensure the high demands of bone mineralization. A mixture of galactooligosaccharides (GOS) and fructooligosaccharides (FOS) would be a useful tool to increase mineral intestinal absorption to enhancing the amount of Ca to be retained into bone. Our objective was to evaluate, in an experimental model of protein restriction (P...

Defects in 24-hydroxylation caused by vitamin D-hydroxylase (CYP24A1) loss-of-function mutations lead to decreased degradation of 1,25(OH)2D and the syndrome of idiopathic infantile hypercalcemia. Affected individuals show increased sensitivity to vitamin D and may develop severe hypercalcemia and hypercalciuria, even with small doses of vitamin D.Presenting: The objective of the study was to investigate the gene expression profile in...

Pathophysiological calcification in the vasculature favours cardio- and cerebrovascular diseases. In patients with chronic kidney disease vitamin K metabolites are associated with decreased vascular calcification.We investigated the expression of vitamin K dependent proteins (VKDPs) in vessels and bone to identify differences in expression pattern during atherosclerosis (AS) stages and compare the two tissue profiles.Gene expressio...