Searchable abstracts of presentations at key conferences on calcified tissues
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43rd Annual European Calcified Tissue Society Congress

Rome, Italy
14 May 2016 - 17 May 2016

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Poster Presentations

Paediatric bone disease

ba0005p471 | Paediatric bone disease | ECTS2016

Bone involvement and intervertebral disc calcifications in beta-thalassemic patients: a retrospective study

de Sire Alessandro , Moretti Antimo , Bianco Massimiliano , Gimigliano Francesca , Iolascon Giovanni

Background: Bone involvement in patients with β-thalassemia is well known, but only few studies have analyzed bone microarchitecture and the prevalence of intervertebral disc calcifications (IDCs) in these patients. The aim of our study was to evaluate the bone quality in a group of patients with β-thalassemia in terms of geometry and microarchitecture properties; moreover, we evaluated the presence of IDCs in these patients.Material and method...

ba0005p472 | Paediatric bone disease | ECTS2016

Osteogenesis imperfecta: clinical and laboratory aspects, about five cases

Nassar Kawtar , Janani Saadia , Rachidi Wafae , Mkinsi Ouafa , Cherqaoui Abdelmounim , Aboumaarouf M

Introduction: Osteogenesis imperfecta is a rare constitutional bone disease. The bone matrix is poor because of the often mutation on the gene coding for collagen I, leading to many fractures. Classification Sillence completed by Glorieux, describes the clinical variability. The management should be done case by case.Study objective: Evaluate the clinical profile, biological and radiological of 5 newly diagnosed cases.Material and ...

ba0005p473 | Paediatric bone disease | ECTS2016

Age of diagnosis of fibrodysplasia ossificans progressiva has a variable onset and a misleading phenotype

Al Kaissi Ali , Kenis Vladimir , Ghachem Maher Ben , Hofstatter Jochen , Grill Franz , Ganger Rudolf , Kircher Susanne

Background: The clinical presentation and the clinical phenotypic characterization and the natural history of Fibrodysplasia Ossificans Progressiva (FOP) is diverse and the natural history of the disease is to certain extent different from one patient to another.Methods: In a series of eleven patients age range from 0 to 16 years (eight girls and three boys), variable clinical presentations were the landmark of these patients. At birth, all our patients ...

ba0005p474 | Paediatric bone disease | ECTS2016

Defining a new severity classification and searching for a pronostic factor in cherubism: NFATc1 localization is the answer

Kadlub Natacha , Siessecq Quentin , Galmiche Louise , Vazquez Marie-Paule , Badoual Cecile , Berdal Ariane , Picard Arnaud , Descroix Vianney , Coudert Amelie

Cherubism is a rare genetic disease (OMIM #118400) characterized by a massive jaw bone osteolysis. This pathology appears around 2–5 years old and in the less severe cases spontaneously regresses after puberty. So far the only treatment available is surgery, often disabling and traumatic. As the cherubism pathophysiology is not yet understood, we carried out a thoroughly characterization of the cherubism granulomas from ten unrelated patients to determine the cells involv...

ba0005p475 | Paediatric bone disease | ECTS2016

Validation of a novel scoring system, the radiographic global impression of change (RGI-C) scale, for assessing skeletal manifestations of hypophosphatasia in infants and children

Whyte Michael , Fujita Kenji , Moseley Scott , Thompson David , McAlister William

Hypophosphatasia (HPP) is the rare inherited metabolic disease caused by loss-of-function mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene. TNSALP deficiency leads to extracellular excess of inorganic pyrophosphate, a bone mineralization inhibitor. Here, we report the validity and reproducibility of a novel scale to quantify HPP-specific radiographic changes in pediatric patients.The Radiographic Global Impression of Change (RGI-C) ...

ba0005p476 | Paediatric bone disease | ECTS2016

Childhood fractures in northern Norway: a population-based study, Fit Futures

Christoffersen Tore , Winther Anne , Nilsen Ole Andreas , Ahmed Luai Awad , Furberg Anne-Sofie , Emaus Nina

Background: Fractures are common injuries during childhood. Incidence rates and patterns varies, but population-based data are scarce. The aim of this study was to describe a population based sex, age and maturation specific incidence of fractures at different anatomical sites in a representative sample from regions above the Arctic Circle.Methods: All fractures in the population based convenient cohort Fit Futures, comprising 1038 adolescents mainly bor...

ba0005p477 | Paediatric bone disease | ECTS2016

Clinical features and targeted gene sequencing analysis of paediatric hypoparathyroidism

Li Yuepeng , Wang Ou , Quan Tingting , Chu Xueying , Xia Weibo , Li Mei , Jiang Yan , Meng Xunwu , Xing Xiaoping

Objectives: For paediatric patients with hypoparathyroidism, genetic defects should be considered firstly. This study was to investigate the clinical features and analyse gene mutations of Chinese patients with child-onset hypoparathyroidism.Subjects and methods: We enrolled 35 paediatric patients with hypoparathyroidism at our clinical centre between 1984 and 2014. Clinical characteristics were collected and Targeted next-generation sequencing (NGS) was...

ba0005p478 | Paediatric bone disease | ECTS2016

Primary hyperparathyroidism in children and adolescents

Wang Wen-bo , Kong Jing , Jiang Yan , Li Mei , Xia Wei-bo , Xing Xiao-ping , Meng Xun-wu , Wang Ou

Context: Primary hyperparathyroidism (PHPT) in children is thought to be extremely rare. We reviewed our experience with PHPT to better characterize these patients.Objective and methods: A total of 62 patients (<18 years) treated in our hospital were respectively analysed to summarize the clinical characterization and molecular genetics in this rare condition in Chinese. The study was approved by the local Ethics Committee of our center.<p class=...

ba0005p479 | Paediatric bone disease | ECTS2016

Increased bone resorption markers in young patients with inflammatory bowel disease

Laakso Saila , Valta Helena , Verkasalo Matti , Viljakainen Heli , Makitie Outi

Children and adolescents with inflammatory bowel disease (IBD) have defects in bone mineral density (BMD) and bone structure that do not completely normalize with clinical remission.The objective of the study was to determine bone turnover marker (BTM) concentrations and factors behind altered bone metabolism in a case-control setting.We measured the bone formation marker PINP and bone resorption markers CTX and TRACP5b in 42 adole...

ba0005p480 | Paediatric bone disease | ECTS2016

The influence of mobility on bone status in subjects with rett syndrome: a 10-year longitudinal study

Caffarelli Carla , Pitinca Maria Dea Tomai , Francolini Valentina , Hayek Jussef , Nuti Ranuccio , Gonnelli Stefano

Low bone mass is a frequent complication of subjects with Rett syndrome. It is well known that many factors such as the use of anticonvulsant drugs, the presence of scoliosis, the nutrition status, the low levels of 25OHD and the ambulatory impairment influence the attainment of peak bone mass in Rett subjects. This study aimed to investigate the long-term influences of mobility on bone status in girls with Rett syndromeIn 47 girls with Rett syndrome, se...

ba0005p481 | Paediatric bone disease | ECTS2016

Mutation update and short-term outcome after treatment with active vitamin D3 in Chinese patients with pseudo-vitamin D-deficiency rickets

Chi Yue , Sun Jing , Pang Li , Jiajue Ruizhi , Jiang Yan , Wang Ou , Li Mei , Xing Xiaoping , Hu Yingying , Zhou Xueying , Meng Xunwu , Xia Weibo

Pseudovitamin D-deficiency rickets (PDDR) is a rare autosomal recessive disorder resulting from a defect in renal 25-hydroxyvitamin D 1α-hydroxylase, which is encoded by the CYP27B1 gene. To our best knowledge, 48 mutations of the CYP27B1 gene have been identified so far. In the present study, we investigated CYP27B1 mutations in seven individuals from six separate families and identified nine different mutations: two novel missense mutations (G194R, R259L), three novel a...

ba0005p482 | Paediatric bone disease | ECTS2016

Body composition in children and young patients affected by chronic diseases

Vai Silvia , Bianchi Maria Luisa , Colombo Carla , Ghio Luciana , Corona Fabrizia , Baranello Giovanni

We analyzed body composition (DXA, Hologic) in 334 young patients (aged 3–24 years) with chronic diseases, most of them on long-term glucocorticoid (GC) treatment, and monitored its changes over 3–14 years (6.9±6.2 years).Bone mineral content (BMC), fat mass (FM) and fat-free mass (FFM) were measured on total body (TB), trunk, upper limbs, lower limbs. BMC, FM, FFM were expressed as percentages and compared with age- and sex-matched health...

ba0005p483 | Paediatric bone disease | ECTS2016

Loss of type I collagen telopeptide lysyl hydroxylation causes musculoskeletal abnormalities in a zebrafish model of Bruck syndrome

Willaert Andy , Ghistelinck Charlotte , Witten P Eckhard , Huysseune Ann , Simoens Pascal , Symoens Sofie , Malfait Fransiska , De Muynck Amelie , De Paepe Anne , Kwon Ronald Y , Weiss Mary Ann , Eyre David E , Coucke Paul

Bruck syndrome, a disorder caused by bi-allelic mutations in either PLOD2 or FKBP10, is characterized by flexion contractures and bone fractures and shows strong clinical overlap with the brittle bone disease Osteogenesis Imperfecta. PLOD2 encodes the Lysyl hydroxylase 2 (LH2) enzyme, which is responsible for the hydroxylation of lysine residues in the type-I collagen telopeptides. This hydroxylation directs cross-linking of the collagen fibrils in t...

ba0005p484 | Paediatric bone disease | ECTS2016

CRTAP variants in early-onset osteoporosis and recurrent fractures

Costantini Alice , Vuorimies Ilkka , Makitie Riikka , Kampe Anders , Taylan Fulya , Makitie Outi

Early-onset primary osteoporosis is characterized by low bone mineral density (BMD) and increased tendency to fractures in young people. Studies on rare bone diseases, such as osteogenesis imperfecta (OI), have identified several new genes associated with early-onset skeletal fragility. This study aimed to explore the role of variation in the cartilage-associated protein (CRTAP) gene in early-onset osteoporosis and/or recurrent fractures. We first used homozygosity ma...