Searchable abstracts of presentations at key conferences on calcified tissues

Bone Abstracts

Published by BioScientifica

Page 5 of about 264 results

ba0001pp278 | Genetics | ECTS2013

Gene-wide association study of RANK and RANKL genes in the bone context: functional study of BMD-associated SNPs

Garcia-Giralt Natalia , Yoskovitz Guy , Rodriguez-Sanz Maria , Urreizti Roser , Guerri Roberto , Arino-Ballester Sergi , Prieto-Alhambra Daniel , Mellibovsky Leonardo , Grinberg Daniel , Nogues Xavier , Balcells Susana , Diez-Perez Adolfo

Over the past decade, many GWAs and meta-analyses were performed to identify genes and regions involved in bone metabolism and in the osteoporotic phenotypes. Nevertheless, the majority of these GWAS results were not tested at any functional level. This study aims to find and study functional regions in the RANK and RANKL genes that encode well-established proteins in the bone remodeling equilibrium. SNPs, chosen for their location in an evolutionary conserve...
0 shares

ba0001pp120 | Calciotropic and phosphotropic hormones and mineral metabolism | ECTS2013

Interaction between FGF23 R176W mutation and C716T nonsynonymous change (T239M, rs7955866) in FGF23 on the clinical phenotype in a family with autosomal dominant hypophosphatemic rickets

Merlotti Daniela , Rendina Domenico , Gennari Luigi , Esposito Teresa , Magliocca Sara , De Filippo Gianpaolo , Strazzullo Pasquale , Nuti Ranuccio , Gianfrancesco Fernando

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...
0 shares

ba0003oc1.6 | Phosphate metabolism, fracture repair and osteoarthritis | ECTS2014

The role of neuropeptide Y Y1 receptor signalling in fracture healing

Sousa Daniela M , McDonald Michelle M , Mikulec Kathy , Peacock Lauren , Little David G , Herzog Herbert , Lamghari Meriem , Baldock Paul A

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...
0 shares

ba0004p163 | (1) | ICCBH2015

Whole blood gene expression analysis in idiopathic infantile hypercalcemia due to compound heterozygous mutation in the CYP24A1 gene in an Austrian 4-month-old boy and his family

Hofer Daniela , Zachhuber Verena , Lindheim Lisa , Munzker Julia , Trummer Olivia , Schweighofer Natascha , Ulbing Matthias , Obermayer-Pietsch Barbara

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...
0 shares

ba0005p420 | Other diseases of bone and mineral metabolism | ECTS2016

Calcification in the vessel wall: impact of vitamin K dependent proteins

Schweighofer Natascha , Aigelsreiter Ariane , Trummer Olivia , Kniepeiss Daniela , Wagner Doris , Stiegler Philipp , Pieber Thomas , Muller Helmut , Obermayer-Pietsch Barbara

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...
0 shares

ba0006p038 | (1) | ICCBH2017

Hypophosphatasia associated with acute disseminated encephalomyelitis (ADEM): causal relationship or coincidence?

Jacobs Benjamin , Gall Angela , Peeva Daniela , Lacassagne Sandrine , Talwar Dinesh , Wakeling Emma L , Tenorio Jair , Mughal M Zulf

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...
0 shares

ba0006p046 | (1) | ICCBH2017

A 16 years old follow up in one case of congenital multiple hormone deficiency: growth, sexual development and bone metabolism

Petrolini Chiara , Stagi Stefano , Rubino Chiara , Gioe Daniela , Spina Luisa La , Peluso Francesca , Monica Matteo Della , Martino Maurizio de

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...
0 shares

ba0006p119 | (1) | ICCBH2017

Phenotypic spectrum in Weyers acrofacial dysostosis: A case report

Rubino Chiara , Stagi Stefano , Petrolini Chiara , Gioe Daniela , La Spina Luisa , Peluso Francesca , Della Monica Matteo , de Martino Maurizio

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...
0 shares

ba0007p215 | (1) | ICCBH2019

Evaluating the natural history of subcutaneous fat necrosis

Lautatzis Maria-Elena , Harrington Jennifer

Background: Subcutaneous fat necrosis (SCFN) of the newborn is an uncommon condition most commonly seen in term infants who have experienced perinatal stress presenting as nodules or plaques on the face, back or upper extremities. The associated complication of hypercalcemia is thought to be secondary to elevated 1,25-OH vitamin D from increased expression of 1-alpha hydroxylase from inflammatory granulomatous cells. However the natural history of SCFN, associated hypercalcemi...
0 shares

ba0006pl1 | (1) | ICCBH2017

Poster List

Poster No. Category Title Author P002 Bone development A 3-year longitudinal study of skeletal effects and growth in children after kidney transplantation <a href="ba...
0 shares

Published by BioScientifica

Bone Abstracts
ISSN 2052-1219 (online)
© Bioscientifica 2024 | Privacy policy | Cookie settings

BiosciAbstracts

Bioscientifica Abstracts is the gateway to a series of products that provide a permanent, citable record of abstracts for biomedical and life science conferences.

Find out more