Searchable abstracts of presentations at key conferences on calcified tissues

ba0005p238 | Genetics and Epigenetics | ECTS2016

Genetic variants at the Wnt/β-catenin and oestrogen receptor signalling pathways are associated with low bone mineral density in dancers

Amorim Tania , Duraes Cecilia , Maia Jose , Carlos Machado Jose , Nogueira Luisa , Adubeiro Nuno , Flouris Andreas D. , Metsios George S. , Marques Franklim , Wyon Matthew , Koutedakis Yiannis

Purpose: Research suggests that dancers are at higher risk of developing low bone mineral density (BMD) compared with the general population. However, the associated factors contributing to low BMD in dancers are not fully understood. We aimed to assess the association of single-nucleotide polymorphisms (SNPs) in the Wnt/β-catenin and oestrogen receptor (ER) signalling pathways with low BMD in dancers.Methods: A genetic association study was conduct...

ba0004p116 | (1) | ICCBH2015

Osteopetrosis with uncommon final height: can only local IGF1 hold normal growth during pubertal spurt?

Milani Soraya Sader , Paula Francisco Jose , Liberatore Jr Raphael , Martinelli Jr Carlos Eduardo

Background: Final stature is a result of concomitant growth hormone (GH)-IGF1 axis integrity, a healthy environment and genetic background. Occasionally, growth occurs despite remarkable impairment in hormone profile. Presenting problem: An uncommon case of longitudinal growth in a boy with very low IGF1 concentrations and clinical diagnosis of osteopetrosis. Clinical management: We report on the case of a 19 year-old male patient with the diagnosis of osteopetrosis who had a ...

ba0005p73 | Bone development/growth and fracture repair | ECTS2016

Combination of novel two-photon photopolymerised scaffolds and bioactive elastin-like-recombinamers induce bone regeneration

Kampleitner Carina , Hildebrand Gerhard , Liefeith Klaus , Gonzalez Constancio , Rodriguez-Cabello Jose Carlos , Markus Andrea , Dullin Christian , Alves Frauke , Hoffmann Oskar

Non-healing fractures caused by trauma, disease or tumour resection demand the use of bone grafts to support and stimulate the healing process. We sought to develop and evaluate the effect of a novel bioactive biodegradable biomaterial designed to fill large bone lesions and to improve bone healing. We used two-photon polymerised synthetic polymer scaffolds composed of lactide (LA), caprolactone (CL), and methacrylate (MA) with varying LA: CL ratio and percentage of methacryla...

ba0005p233 | Genetics and Epigenetics | ECTS2016

Differentially methylated regions in gene enhancers of mesenchymal stem cells from osteoporotic patients

Del Real Alvaro , Perez-Campo Flor , Sanudo Carolina , Garces Carlos , Garcia-Ibarbia Carmen , Perez-Nunez Maria I. , Riancho Jose A.

Osteoporosis (OP) is characterised by reduced bone mass, due to an insufficient osteoblast-mediated bone formation, unable to replace the bone tissue removed by osteoclasts. Mesenchymal stem cells (MSCs) are multipotent cells capable of differentiating into osteoblasts, adipocytes and chondrocytes. Epigenetic marks like DNA methylation could influence the differentiation potential of these cells into osteoblasts and, consequently, the risk of OP. To explore this hypothesis, we...

ba0001pp104 | Calciotropic and phosphotropic hormones and mineral metabolism | ECTS2013

Neonatal neuroendocrine alterations impair tooth eruption, enamel mineralization, and leptin and corticosterone secretion in adulthood

de Mello Wagner Garcez , de Morais Samuel Rodrigues Lourenco , Delbem Alberto Carlos Botazzo , Dornelles Rita Cassia Menegati , Antunes-Rodrigues Jose , de Castro Joao Cesar Bedran

There is a growing body of evidence indicating the important role of the neonatal steroid milieu in programming sexually dimorphic pattern in various physiological systems. We tested the hypothesis that abnormal exposure to steroid hormones within a critical developmental period elicits permanent changes on tooth eruption, enamel mineralization, and leptin and corticosterone concentrations in adulthood. Newborn Wistar rats were divided into four groups, two male groups and two...

ba0005p143 | Cell biology: osteoblasts and bone formation | ECTS2016

RUNX2, osterix and the human sclerostin gene: searching molecular and epidemiological interactions

Perez-Campo Flor , Santurtun Ana , Garcia-Ibarbia Carmen , Pascual Maria A , Valero Carmen , Garces Carlos , Sanudo Carolina , Zarrabeitia Maria T , Riancho Jose A

Sclerostin, encoded by the SOST gene, functions as an inhibitor of the Wnt pathway and thus it is an important regulator of bone homeostasis. The fact that osteoblasts, the only cells expressing SOST, lay buried deeply in the bone matrix, poses intrinsic difficulties to the study of the regulation of this gene. Since RUNX2 and SP7/OSX are two known regulators of the differentiation of cells of the osteoblastic lineage, the aim of this study was to determine t...

ba0001pp482 | Other diseases of bone and mineral metabolism | ECTS2013

Zoledronate efficacy and safety in active Paget's disease: long-term follow-up and retreatment in clinical practice

Vieira-Sousa Elsa , Rodrigues Ana , Caetano-Lopes Joana , Capela Susana , Ramos Filipa , Figueira Ricardo , Joaquim Polido-Pereira1 , Ponte Cristina , Raquel Campanilho-Marques1 , Barros Rita , Romeu Jose Carlos , da Silva Jose Alberto Pereira

Background: Zoledronate, a third generation bisphosphonate, has showed high efficacy in the inhibition of bone resorption. The objective of this observational study was to assess short and long-term efficacy and safety of zoledronate in the treatment of active Paget’s disease (PD).Methods: Patients with active PD treated with zoledronate 5 mg were consecutively recruited. Clinical and laboratory parameters were determined before, at 3 and every 6 mo...

ba0001pp295 | Muscle, physical activity and bone | ECTS2013

Proximal femur geometry as moderator factor for the effect of mechanical loading during gait: a bone remodeling analysis

Machado Miguel M , Fernandes Paulo R , Baptista Fatima

The regions of the proximal femur that are at greater risk of structural failure during a fall are those with less adaptive protection promoted by mechanical loading of the activities of daily living. Considering the associations between bone geometry of the proximal femur with bone fracture risk, we intended to examine how geometrical characteristics of the proximal femur (FNL, femoral neck length; FNW, femoral neck width; NSA, neck shaft angle) moderate the effect of mechani...

ba0003w2.2 | Genetics of bone disease | ECTS2014

Epigenetics

Riancho Jose

Epigenetic mechanisms regulate gene expression and are heritable through cell divisions even though they do not involve modifications in the gene sequence. They include methylation and other chemical modifications of cytosine nucleotides, histone posttranslational modifications, microRNAs and other non-coding RNAs. Most cytosines in the human genome are methylated, particularly in the inactive, tightly packed, heterochromatin of autosomes, and the inactivated X-chromosome in f...

ba0006is05 | (1) (1) | ICCBH2017

Skeletal mineralization – enzymes and animal models

Millan Jose Luis

Increased understanding of the biochemical pathways leading to MV-mediated initiation of skeletal, dental and vascular calcification has been attained through the extensive use of single and double knockout mouse models as well as via overexpression of genes by transgenesis. Our current integrated model of these pathways is compatible with the following sequence of events: MVs initiate mineral deposition by accumulation of Pi generated intravesicularly by the action...