Bone Abstracts

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...

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...

Background: Hypophosphatasia is generally regarded as a disease of bone and teeth. Lack of Tissue Non-Specific Alkaline Phosphatase (TNAP) leads to an accumulation of inorganic pyrophosphate and the Vitamin B6 metabolite pyridoxal 5′-phosphate (PLP), a reduction in pyridoxic acid (PA) and increased PLP/PA ratio. Vitamin B6 deficiency in the brain impairs synthesis of neurotransmitters, and is a well-recognised cause of neonatal seizures. We have found no previous reports...

Background: Congenital multiple hormone deficiency (CMHD) is a rare condition caused by mutations in transcription factors involved in pituitary ontogenesis1. Incidence of mutations in POU1F1 gene in results between 3.8 and 7.7%2. POU1F1 gene mutations lead to somatolactotroph and thryotroph deficiencies. Brain MRI can be normal or shows pituitary hypoplasia without extrapituitary anomalies.Presenting problem: We describe the growth...

Background: Weyers acrofacial dysostosis (WAD, OMIM 193530) is a rare autosomal dominant disease, characterized by mildly short stature, postaxial polydactyly, nail dystrophy and dental anomalies. WAD should be distinguished from Ellis-van Creveld syndrome (OMIM 225500), a similar but more severe disease, comprising chondrodysplasia, orofacial anomalies and, in a proportion of patients, cardiovascular malformations. Both diseases are caused by mutations in either EVC or EVC2<s...

Calcification in the vasculature is one of the leading causes of cardiovascular diseases and mortality outcomes. Therefore, the aim of our study was to investigate changes in the gene expression of calcification regulators (CR) in arterial vessels during different stages of atherosclerosis and to document potential corresponding changes in the bone. OPG, RANKL, OPN, MGP, BSP-II and RUNX2 were candidate genes for our study in bone, aorta and arteria ilica externa tissue samples...

Objectives: Vitamin D deficiency is of current interest especially in high risk patients for reduced bone mineral density as in pediatric hematologic oncologic patients.Methods: During a 4 year period 194 pediatric hematologic oncologic patients were screened for serological vitamin D deficiency (defined as 25 (OH)D levels <30 ng/ml and accordingly <75 nmol/l). 61 patients were in the prospective group 1 defined as screening at time of diagnosis,...