Searchable abstracts of presentations at key conferences on calcified tissues

ba0004is18biog | (1) (1) | ICCBH2015

Management of sclerosing bone disease

Whyte Michael P

Biographical DetailsMichael P Whyte is Professor of Medicine, Pediatrics, and Genetics at the Washington University School of Medicine, a staff member of Barnes-Jewish Hospital and St. Louis Children’s Hospital, and Medical-Scientific Director at the Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children in St. Louis, Missouri, USA.<p class="abst...

ba0005p237 | Genetics and Epigenetics | ECTS2016

Association among oxidative stress, Wnt signaling and trabecular bone microstructure in osteoporosis and osteoarthritis

Giner Merce , Miranda Cristina , Jose Montoya M. , Portal Sergio , Angeles Vazquez M. , Jose Miranda M. , Esbrit Pedro , Perez-Cano Ramon

Experimental studies suggested that both, oxidative stress and the Wnt pathway, are important factors in the regulation of bone remodeling. Thus, low antioxidant levels and elevated markers of Wnt pathway inhibitors (sclerostin) levels are associated with a reduced bone mineral density and increased risk of osteoporotic fracture. Whether oxidative stress and the Wnt pathway are related to fracture risk is poorly understood.M&M: Cross-sectional study ...

ba0004op12 | (1) | ICCBH2015

A non-invasive method for screening vitamin D insufficiency for adolescents using skin colourimetry

Lam Tsz Ping , Lee Wayne Y W , Cheung Franco T F , Tsang Echo K L , Wong Lyn L N , Lee Simon K M , Ng Bobby K W , Cheng Jack C Y

Introduction: Effective screening for vitamin D (Vit-D) insufficiency is desirable. Pigmentation of unexposed (constitutive) skin and exposed (facultative) skin can be measured with skin colourimetry to assess dermal capability in synthesizing Vit-D and degree of sunlight exposure respectively. This study aimed at evaluating whether skin colourimetry could be used to screen Vit-D insufficiency among adolescents.Methods: 240 healthy adolescents (mean age=...

ba0005p221a | Chondrocytes and cartilage | ECTS2016

miR-214: a novel regulator of chondrogenesis?

Roberto Vania P , Conceicao Natercia , Nunes Maria J , Rodrigues Elsa , Cancela M Leonor , Tiago Daniel M

Skeletogenesis is an intricate process controlled by numerous transcriptional factors, hormones and signalling pathways. Recently, microRNAs emerged as important players in skeletogenesis but, only few were identified and most of their targets remain unknown. Previous works showed that miR-199a-2/214 cluster is essential for skeletal development and that miR-214 inhibits bone formation in mammals. However, data regarding its skeletal role in other vertebrates is scarce and its...

ba0006p068 | (1) | ICCBH2017

Craniosynostosis can occur in children with nutritional rickets

Forestier-Zhang L , Arundel P , Cross R Gilbey , Mughal M Z , Offiah A C , Cheung M S

Background: Severe vitamin D deficiency (VDD), is a common disorder, which has complications including rickets, hypocalcaemia, hypotonia, delayed development and cardiomyopathy. Although nutritional rickets associated craniosynostosis has been reported, there is little awareness of this or knowledge about its clinical course or severity. We present five cases of late onset craniosynostosis in association with nutritional rickets.Clinical presentation: Th...

ba0001oc3.5 | Osteoporosis pathophysiology and genetics | ECTS2013

Genome-wide association identifies a new susceptibility locus at 4q35 associated with clinical vertebral fractures in post-menopausal women: the GEFOS-GENOMOS consortium

Alonso N , Estrada K , Herrera L , Kabir D , Olmos J M , Sanudo C , Riancho J A , Oei L , Medina-Gomez M C , Stenkjaer L , Bjerre L , Langdahl B , Brown M A , Duncan E L , Sims M , Kaptoge S , Reeve J , Lewis J , Prince R , Reppe S , Olstad O K , Gautvik K M , Garcia-Giralt N , Nogues X , Mencej-Bedrac S , Marc J , del Pino J , Gonzalez-Sarmiento R , Wolstein O , Eisman J , Feenstra B , Melbye M , Albagha O M E , WTCCC , Davies G , Starr J , Deary I , Quintela I , Fernandez C , Carracedo A , Lucas G , Elosua R , Uitterlinden A G , Rivadeneira F , Ralston S H

Vertebral fractures (VF) defined by morphometric analysis of spine radiographs are the most common complication of osteoporosis. Those that come to medical attention, with symptoms such as back pain and kyphosis are termed clinical vertebral fractures (CVF) and account for significant morbidity and mortality. Although much progress was made in identifying loci for bone mineral density, the genetic determinants of CVF remain unclear. Here we present the initial results from a g...

ba0004p10 | (1) | ICCBH2015

Infantile Blount's disease: histopathologic changes in the proximal tibial metaphysis -- comparison between medial and lateral specimens

Hollman Freek , Vroemen Pascal , Rompa Paul , Moh Prosper , van Rhijn Lodewijk , Weltink Tim , Staal Heleen

Only minor literature on histopathologic changes in Blount’s disease is available. This study presents the histologic findings of biopsies harvested from the medial and lateral part of the proximal tibia during the W/M serrated osteotomy in patients with infantile Blount’s disease, performed in Ghana. In this study it is hypothesized that the medial metaphyseal area in these children will present a different histological morphology compared to the lateral metaphyseal...

ba0007lb1 | (1) | ICCBH2019

Genetic inactivation of osteocalcin in Col1a1Jrt/+ mice, a model of dominant osteogenesis imperfecta, restores glucose metabolism to wild-type levels

Tauer Josephine T , Komarova Svetlana V

Objective: Osteocalcin, an osteoblast-derived hormone, is among the most abundant proteins in bone and is involved in the regulation of whole-body metabolism, muscle adaptation, and reproduction. High bone turnover and low bone mass are clinical hallmarks of Osteogenesis Imperfecta (OI), a bone disease mainly caused by mutations in the collagen-I gene. Recently, we have shown that growing mice with a severe dominant form of OI, Col1a1Jrt/+ mice, displayed significantly elevate...

ba0002p89 | (1) | ICCBH2013

Painful vertebral fractures during pregnancy: be aware of a potentially underlying genetic cause

Zillikens M Carola , Campos-Obando Natalia , Oei Ling , Simon Marleen

Background: The baby growing in its mother’s womb needs calcium for skeletal development. Maternal osteoporosis has been attributed to pregnancy in some cases.Presenting problem: A 27-year-old woman in the 7th month of her first pregnancy complained of mid-thoracic back pain after lifting a non-heavy object. The pain remained with differing intensity and was attributed to her pregnancy. After the delivery of a healthy child, the back pain prevented ...