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

Other diseases of bone and mineral metabolism

ba0005p419 | Other diseases of bone and mineral metabolism | ECTS2016

Natural history and prognostic factors of fibrous dysplasia of bone in a modern cohort of 372 patients. The Francedys Study

Benhamou Johanna , Gensburger Deborah , Messiaen Claude , Chapurlat Roland

Fibrous dysplasia of bone (FD) is a rare inherited but sporadic bone disease that can be responsible for bone pain, fracture and bone deformity. The prognosis may be difficult to establish because of the wide spectrum of disease severity, with patients benign forms of the disease and some others who are severely affected.We have analyzed the data from the French National reference center for FD. We have established a database from electronic medical reco...

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...

ba0005p421 | Other diseases of bone and mineral metabolism | ECTS2016

Postmenopausal osteoporosis and periodontal disease about 60 cases

Nassar Kawtar , Janani Saadia , Rachidi Wafae , Mkinsi Ouafa

Introduction: Menopause plays an important role in the onset and/or worsening of periodontal disease by the action of sex hormones on the various body systems. Several studies have reported an association between osteoporosis and periodontal destruction. The aim of this study was to evaluate the effect of postmenopausal osteoporosis on periodontal status.Material and methods: This is a case-control type study, conducted among 30 women attending the Rheum...

ba0005p422 | Other diseases of bone and mineral metabolism | ECTS2016

Bone loss and coronary artery disease, about 46 cases

Nassar Kawtar , Janani Saadia , Rachidi Wafae , Mkinsi Ouafa

Introduction: Osteoporosis (OP) as cardiovascular diseases are causes of morbidity and mortality. Several publications have shown a relationship between the OP and coronary heart disease (MC). Their coexistence was considered separate conditions related to age, and was mainly attributed to aging and common risk factors including diabetes, dyslipidemia, and smoking.Study Objective: To assess the prevalence of BMD bone loss in patients treated for coronary...

ba0005p423 | Other diseases of bone and mineral metabolism | ECTS2016

Vitamin D status in patients followed for chronic liver diseases

Janani Saadia , Nassar Kawtar , Rachidi Wafae , Mkinsi Ouafa

Introduction: Osteoporosis is the musculoskeletal disease, the most common complication of liver osteodystrophy. Combined with vitamin D deficiency, they expose the patient to increased risk of fracture, increased morbidity and impaired quality of life.The objective of the study is to evaluate the vitamin D status and the prevalence of densitometric osteoporosis in 100 patients followed for chronic liver diseases.Materials and meth...

ba0005p424 | Other diseases of bone and mineral metabolism | ECTS2016

Bone mineral density changes in kidney transplant recipients

Smalcelj Ruzica

Bone mineral density (BMD) changes were estimated in kidney recipients. In 63 patients aged 24–64 years, measured creatinine clearance at the end of the first posttransplant year was >50 ml/min and remained stable over the study period, bone mineral density (BMD) was estimated in the lumbar spine, femoral neck, Ward’s triangle and the distal third of the radius using dual energy absorptiometry (DEXA) 0.1–4, 12–18 and 23–36 months after transplantat...

ba0005p425 | Other diseases of bone and mineral metabolism | ECTS2016

IL-6/STAT3 pathway is critically involved in vascular calcification via histone modification of the RUNX2 promoter in vascular smooth muscle cells

Kurozumi Akira , Nakano Kazuhisa , Yamagata Kaoru , Okada Yosuke , Nakayamada Shingo , Tanaka Yoshiya

Objective: Both inflammation and vascular calcification have been known as independent risk factors of cardiovascular events. However, the induction mechanism of vascular calcification by inflammation is still unclear. We here assessed the molecular effects of pro-inflammatory cytokines on vascular smooth muscle cell (VSMC) calcification.Methods: VSMCs from human aorta cultured in osteoblast induction medium (OIM) and stimulated by pro-inflammatory cytok...

ba0005p426 | Other diseases of bone and mineral metabolism | ECTS2016

Association of circulating dipeptidyl-peptidase 4 levels with osteoporotic fracture in postmenopausal women

Kim Beom-Jun , Kim Hyeonmok , Baek Ki Hyun , Ahn Seong Hee , Lee Seung Hun , Koh Jung-Min , Rhee Yumie , Kim Chong Hwa , Kim Deog-Yoon , Kang Moo-Il , Min Yong-Ki

Evidence indicates that dipeptidyl-peptidase 4 (DPP4) plays a distinct role in bone metabolism. However, there has been no report on the association, if any, between circulating DPP4 levels and osteoporosis-related phenotypes. This study aimed to determine if DPP4 predicts osteoporotic fracture (OF) risk in postmenopausal women. This case–control study was conducted in multiple centers in Korea. We enrolled 178 cases with OF and 178 age- and body mass index-matched contro...

ba0005p427 | Other diseases of bone and mineral metabolism | ECTS2016

Insulin resistance independently had the negative association with the bone mineral density in Korean young women

Choi Woong

The relationships between insulin resistance and BMD are not clear. Therefore, we conducted a cross-sectional study to examine the relationship between insulin resistance and BMD among Korean young adult population. This study is based on the Korea National Health and Nutrition Examination Survey (KNHANES) from 2008 to 2010. BMD and body composition were measured by DXA method. Insulin resistances were obtained by HOMA-IR equation. The relationship between BMD and HOMA-IR were...

ba0005p428 | Other diseases of bone and mineral metabolism | ECTS2016

Low bone mass density is associated with tooth loss in postmenopausal women: a nationwide representative study

Ji SoYeon , Tak YoungJin , Lee SeungHun , Lee JeongGyu

Background: Both osteoporosis and tooth loss are major health problems that are frequently observed in postmenopausal women. Authors in this study investigated the relationship between low bone mineral density and edentulism.Methods: This cross-sectional study used data from the fifth Korea National Health and Nutrition Examination Survey 2011–2012. A total of 2129 postmenopausal women (50–80 years), who had bone mineral density measured and ha...

ba0005p429 | Other diseases of bone and mineral metabolism | ECTS2016

Impaired quality of life and muscle function in patients with hypoparathyroidism/hypothyroidism compared with only hypothyroidism and controls

Sikjaer Tanja , Moser Emil , Rolighed Lars , Underbjerg Line , Bislev Lise , Mosekilde Leif , Rejnmark Lars

Total thyroidectomy causes postsurgical hypothyroidism (HypoT). Besides HypoT, patients may also develop hypoparathyroidism (HypoPT).The aim of the study was to assess Quality of Life (QoL), muscle function, and bone indices in patients with postsurgical hypothyroidism and hypoparathyroidism (HypoT+PT) as compared to patients with postsurgical HypoT and healthy controls.Age and gender matched patients on treatment for HypoT+PT and ...

ba0005p430 | Other diseases of bone and mineral metabolism | ECTS2016

Type 2 diabetes mellitus increase the risks of incident osteoporotic fractures in Chinese postmenopausal women: a 5-year prospective study

Jiajue Ruizhi , Qi Xuan , Jiang Yan , Wang Qiuping , Wang Wenbo , Pei Yu , Wang Xiran , Huang Wei , Zheng Xin , Ning Zhiwei , Wang Ou , Li Mei , Xing Xiaoping , Yu Wei , Xu Ling , Xia Weibo

Purpose: The aim of this 5-year prospective study was to investigate the association between type 2 diabetes mellitus (T2DM) and incident osteoporotic fracture (IOF) in Chinese postmenopausal women aged 50 years or older.Methods: We included 826 subjects, participating in both the baseline (2007–2008) and follow-up (2012–2013) studies. Based on the diagnosis of T2DM, subjects were first individualized into Non-T2DM and T2DM groups, which were t...

ba0005p431 | Other diseases of bone and mineral metabolism | ECTS2016

Bisphosphonate therapy in Langerhans cell histiocytosis: an international retrospective descriptive study

Chellapandian Deepak , Makras Polyzois , Kaltsas Gregory , van den Bos Cor , Carret Anne-Sophie , Weitzman Sheila , Egeler Maarten , Abla Oussama

Introduction: Langerhans cell histiocytosis (LCH) is a monoclonal disorder characterized by proliferation and accumulation of atypical Langerhans cells. Bone involvement is particularly destructive and to date, no standard of care exists. Bisphosphonates are osteoclast inhibitors that could target the multinucleated giant cells within the LCH lesions and might be used to alleviate bone pain and the progression of disease.Objective: To evaluate the effica...

ba0005p432 | Other diseases of bone and mineral metabolism | ECTS2016

Differing mechanisms of mineralisation in vascular smooth muscle cells and osteoblasts

Patel Jessal , Zhu Dongxing , Wheeler-Jones Caroline , Arnett Timothy , MacRae Vicky , Orriss Isabel

Vascular calcification (VC) involves hydroxyapatite deposition in the arteries and cardiac muscle. VC is thought to share some outward similarities to skeletal mineralisation and has been associated with the transdifferentiation of vascular smooth muscle cells (VSMCs) to an osteoblast-like phenotype. We have previously shown that ATP, UTP and synthetic ATP-analogues (α, β-meATP, β, γ-meATP, Bz-ATP) (≥1 μM) act to potently inhibit both bone minera...

ba0005p433 | Other diseases of bone and mineral metabolism | ECTS2016

Genetic and clinical characteristics of Chinese pseudohypoparathyroidism patients

Chu Xueying , Zhu Yan , Nie Min , Wang Ou , Jiang Yan , Xia Weibo , Xing Xiaoping , Meng Xunwu , Li Mei

Objects: Seventy seven clinically diagnosed pseudohypoparathyroidism (PHP) patients from our hospital during 2000–2010 were recruited to analyze the clinical features and molecular genetics of Chinese PHP patients.Methods: The clinical data of the 77 PHP patients were retrospectively analyzed. Methylation status of GNAS was detected by combined bisulfiterestriction analysis. Genome DNA was extracted from peripheral blood lymphocytes. GN...

ba0005p434 | Other diseases of bone and mineral metabolism | ECTS2016

Cyclophilin B deficiency is associated with defective differentiation of bone cell populations and bone hypermineralization

Cabral Wayne , Fratzl-Zelman Nadja , Blouin Stephane , Roschger Paul , Klaushofer Klaus , Marini Joan

Deficiency of Cyclophilin B (CyPB) causes recessively inherited Type IX osteogenesis imperfecta, a moderately severe to lethal bone dysplasia. CyPB, encoded by PPIB, is an ER-resident peptidyl-prolyl cis-trans isomerase (PPIase) that catalyzes the rate-limiting step in collagen folding, and also functions as a component of the collagen prolyl 3-hydroxylation complex. We previously demonstrated in a Ppib−/− mouse model that CyPB PPIase activity r...

ba0005p435 | Other diseases of bone and mineral metabolism | ECTS2016

Association between serum levels of PPARγ and vertebral fractures in type 2 diabetes mellitus patients

Garcia-Fontana Beatriz , Morales-Santana Sonia , Novo-Rodriguez Cristina , Rozas-Moreno Pedro , Reyes-Garcia Rebeca , Munoz-Torres Manuel

Introduction: Type 2 diabetes mellitus (T2DM) is a risk factor for the development of fractures. Several studies have shown an inverse relationship between osteoblastogenesis and adipogenesis through a competition model between these processes.PPARγ acts as regulator of adipogenesis and its increased expression is associated to decreased osteoblastogenesis. The treatment of insulin resistance with glitazones, one of the ligands of PPARγ, reduce...

ba0005p436 | Other diseases of bone and mineral metabolism | ECTS2016

Determinants of health related quality of life in adults with osteogenesis imperfecta

Hald Jannie Dahl , Folkestad Lars , Harslof Torben , Brixen Kim , Langdahl Bente

Osteogenesis imperfecta (OI) is a systemic connective tissue caused by mutations in collagen type 1 related genes. Patients with OI suffer from multiple fractures and various degrees of growth deficiency and bone deformity. Other symptoms are early hearing loss, abnormal dental tissue and hypermobility. It is not known whether the systemic effect of a defect collagen type 1 influences the quality of life in people with OI. We aimed to investigate health related quality of life...

ba0005p437 | Other diseases of bone and mineral metabolism | ECTS2016

Evaluation of targeted next-generation sequencing in diagnosis of Chinese adult-onset idiopathic hypoparathyroidism

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

Objectives: Several genes have been recognized to be associated with nonsurgical hypoparathyroidism. Most previous studies focused on gene mutation among paediatric hypoparathyroidism patients. Data about gene mutations in adult-onset hypoparathyroidism patients is still lacking. This study was designed to evaluate the role of gene defects in the pathogenesis of adult-onset hypoparathyroidism in China through the targeted next-generation sequencing (NGS).<p class="abstext"...

ba0005p438 | Other diseases of bone and mineral metabolism | ECTS2016

DXA in clinical practice: invest in quality to improve accuracy and clinical relevance

Dawar Hitesh , Mughlakod Vinayak , Raina Deepak , Rastogi Surbhit , Wani Jahangir , Wani Sayim

Introduction: Osteopetrosis is a disorder with diminished bone resorption due to osteoclastic abnormality resulting in hard and brittle bones. Subtrochanteric area is quite susceptible to fractures because this is an area of high stress. Operative intervention has a high rate of perioperative complications.Methods and results: We present a series of four Subtrochanteric fractures treated surgically in three patients of Osteopetrosis in a tertiary level O...

ba0005p439 | Other diseases of bone and mineral metabolism | ECTS2016

Quality of life and psysical activicy in patients with non-surgical hypoparathyroidism and pseudohypoparathyroidism

Underbjerg Line , Sikjaer Tanja , Rejnmark Lars

Background: Non-surgical hypoparathyroidism (NS-HypoPT) and pseudohypoparathyroidism (Ps-HypoPT) are both rare diseases, with a prevalence of 2/100.000 and 1/100.000, respectively.Studies on Quality of Life, QoL, are sparse, but studies have shown an increased risk of fatigue and depression.Methods: Using the Danish version of SF36v2 and WHO-5 Well Being Index, we investigated the physical and mental QoL among patients with NS-Hypo...

ba0005p440 | Other diseases of bone and mineral metabolism | ECTS2016

Mice lacking periostin are resistant to bone microstructural alterations during lactation

Bonnet Nicolas , Brun Julia , Ferrari Serge

Periostin is a matricellular protein expressed in late osteoblasts/osteocytes, which levels increase in response to PTH and mechanical loading. In turn periostin contributes to modeling based bone formation while restraining bone remodeling. Periostin is also a substrate of cathepsin K and inhibition of periostin blunts the effects of cathepsin K inhibition on bone. Considering the important role of osteocytes and their cathepsin K expression on osteolysis during lactation, we...

ba0005p442 | Other diseases of bone and mineral metabolism | ECTS2016

Investigation of the Paget’s disease susceptibility locus on chromosome 15q24 using targeted next generation DNA sequencing approach

Wani Sachin , Ralston Stuart , Albagha Omar

Paget’s disease of bone (PDB) is a common disease characterised by focal abnormalities in bone turnover. Previous GWAS identified a susceptibility locus for PDB on chromosome 15q24 tagged by a coding SNP rs5742915 (p.Phe645Leu) located in PML. The aim of this study was to fine map this locus to identify functional genetic variants that predispose to PDB using targeted DNA sequencing and functional analysis in bone cells.A 200 kb region surr...

ba0005p444 | Other diseases of bone and mineral metabolism | ECTS2016

Deep characterization of a zebrafish model for dominant osteogenesis imperfecta

Tonelli Francesca , Gioia Roberta , Biggiogera Marco , Fisher Shannon , Leikin Sergey , Schinke Thorsten , Rossi Antonio , Forlino Antonella

Dominant osteogenesis imperfecta (OI) is a bone disease mainly caused by collagen type I mutations and characterized by bone fragility and growth delay. Nowadays no definitive cure is available. A zebrafish OI model (Chihuahua) carrying an heterozygous G574D substitution in the α1 chain of collagen type I was generated by ENU mutagenesis and is available in our laboratory. Control (WT) and mutant (Chi+/−) fish growth was followed up from day 1 post fertilization to ...

ba0005p445 | Other diseases of bone and mineral metabolism | ECTS2016

Clinical and genetic analysis of multiple endocrine neoplasia type 1-related primary hyperparathyroidism in Chinese: a single-center experience over ten years

Kong Jing , Wang Ou , Nie Min , Shi Jie , Hu Yingying , Jiang Yan , Li Mei , Xia Weibo , Meng Xunwu , Xing Xiaoping

Objective: Multiple endocrine neoplasia type 1-related PHPT (MHPT) differs in many aspects from sporadic PHPT (SHPT). The aims of the study were to summarize the clinical features of Chinese MHPT and compare the severity of the disease with SHPT.Design and methods: A total of 40 MHPT cases (27 sporadic, seven families) and 169 SHPT patients of Chinese descent were retrospectively analyzed. X-rays and ultrasound were used to assess the bone and urinary sy...

ba0005p446 | Other diseases of bone and mineral metabolism | ECTS2016

Impacting factors of serum 25-hydroxyvitamin D levels of elderly in community in Shanghai

Cheng Qun , Chen Minmn , Du Yanping , Hong Wei , Tang Wenjing , Fei Yang , Zheng Songbai

Objective: To analyse the influential factors of lifestyle on vitamin D status among aged people in Shanghai community.Method: Lifestyles of 3846 elderly men and women aged over 65 years were investigated using a self-designed questionnaire from ten communities of urban and suburb in Shanghai China, which contained sociodemographic factors and lifestyle factors and so on. The levels of serum 25(OH)D were measured by Cobas Diagnosis System of Roche. Univa...

ba0005p447 | Other diseases of bone and mineral metabolism | ECTS2016

The characteristics of bone mineral density in men of different ages with type 2 diabetes

Zhen Zhao

Objective: To investigate the characteristics and related factors of bone mineral density (BMD) in men of different ages with type 2 diabetes.Methods: Four hundred and forty four male patients diagnosed with type 2 diabetes and 208 healthy men were involved from 2013 to 2014. The BMD of all men including lumbar spine (L1–L4), femoral neck, trochanter, and total hip were detected using dual-energy X-ray absorptiometry produced by the US company. We g...

ba0005p448 | Other diseases of bone and mineral metabolism | ECTS2016

The characteristics and related factors of vascular calcification(VC) in lower limbs of patients with type 2 diabetes

Zhen Zhao

Objective: To investigate the characteristics and related factors of vascular calcification (VC) in lower limbs of patients with type 2 diabetes.Methods: 204 patients diagnosed with type 2 diabetes had suffered from the symptoms on lower limb and took ABI and CTA test. We collected their basic information and also study their biochemical index. VC was defined when the ABI >1.3 of posterior tibial artery and dorsalis pedis artery, while we scored VC o...

ba0005p449 | Other diseases of bone and mineral metabolism | ECTS2016

MSC injection modulates osteocyte number after high dose single limb irradiation in a murine model

Benaitreau Delphine , Wade-Gueye Marieme , Alexandre Ribault , Claire Squiban , Stephane Flamant , Radia Tamarat

Introduction: In accidental irradiations, skin, muscle and bone are altered. Mesenchymal Stem Cell (MSC) treatment has already been used for skin healing in accidental irradiations, but its effects on irradiated bone are still unknown.In this study, we characterised a mouse model of high dose local irradiation of bone and the effects of MSCs injections on osteoradionecrosis.Methods: Nude mice were locally irradiated in the left tib...

ba0005p450 | Other diseases of bone and mineral metabolism | ECTS2016

Cortical density is lower in patients with Graves' disease compared to healthy controls

Malmstroem Sofie , Grove-Laugesen Diana , Ebbehoj Eva , Hansen Klavs Wurgler , Watt Torquil , Rejnmark Lars

Objective: Hyperthyroidism leads to reduced mineral bone density and is associated with increased risk of fracture. Whether the effect of increased bone turnover is identical in cortical and trabecular bone in unknown. Using a cross sectional design we aimed to investigate which bone compartment is affected.Methods: Nineteen newly diagnosed patients with Graves’ disease (GD) and nineteen euthyroid controls matched on age, gender and menopausal statu...

ba0005p451 | Other diseases of bone and mineral metabolism | ECTS2016

Rankl−/− mesenchymal stromal cells have an unexpected osteogenic differentiation defect which is improved by a RANKL-expressing lentiviral vector

Menale Ciro , Schena Francesca , Diomede Lorenzo , Sergi Lucia Sergi , Susani Lucia , Palagano Eleonora , Traggiai Elisabetta , Sobacchi Cristina , Villa Anna

Osteoclast-poor RANKL-dependent autosomal recessive osteopetrosis (ARO) is a rare bone disease characterized by an increase in bone density due to the failure of bone resorption by impaired osteoclast formation. Haematopoietic stem cell transplantation is not an effective therapy for this ARO form, since in bone RANKL is produced mainly by cells of mesenchymal origin. Whether also these cells, besides the osteoclast, are in some way affected by RANKL deficiency is not known. T...

ba0005p452 | Other diseases of bone and mineral metabolism | ECTS2016

Micro-RNA expression profiling in Paget’s disease of bone

Bianciardi Simone , Merlotti Daniela , Sebastiani Guido , Valentini Marco , Gonnelli Stefano , Caffarelli Carla , Evangelista Isabella Anna , Cenci Simone , Nuti Ranuccio , Dotta Francesco , Gennari Luigi

Since their initial discovery, microRNAs (miRNAs) have emerged as critical post-transcriptional regulators of gene expression that are able to modulate bone remodeling. Nonetheless, despite the peculiar and aggressive phenotype of pagetic osteoclasts and the associated increase in osteoblast activity, whether deregulation of miRNAs is involved in Paget’s disease of bone (PDB) remains unknown. Here, we performed a serum miRNA expression profile (Taqman Human MicroRNA Array...

ba0005p453 | Other diseases of bone and mineral metabolism | ECTS2016

Two novel mutations of RUNX2 gene in two sporadic cleidocranial dysplasia patients

Zhang Cong , Jiang Yan , Xing Xiaoping , Li Mei , Wang Ou , Xia Weibo

Background: Cleidocranial dysplasia (CCD) is an autosomal-dominant skeletal dysplasia syndrome characterized by delayed closure of cranial sutures, remained-open fontanels, hypoplastic clavicles, abnormal dentition including retention of the primary teeth and delayed eruption of secondary dentition, and short stature. The responsible gene for CCD is RUNX2, which encodes an important transcription factor for osteoblast development and bone formation. CCD is caused by t...

ba0005p454 | Other diseases of bone and mineral metabolism | ECTS2016

Bone mineral density and vascular calcification in obesity

Bouquegneau Antoine , Walsh Jennifer , Evans Amy , Paggiosi Margaret , Eastell Richard

Background: The presence of vascular calcification (VC) is a predictive factor for the development of cardiovascular diseases, especially in the obese population. VC has also been inversely associated with bone mineral density (BMD) but the results have been inconsistent. The main aim of this study was to evaluate the associations between VC, obesity and volumetric BMD (vBMD).Methods: We studied 148 healthy men and women, aged 55–75 years, divided i...

ba0005p455 | Other diseases of bone and mineral metabolism | ECTS2016

An isoform of fibronectin is responsible for bone loss in hepatic osteodystrophy and its deleterious effects can be prevented by binding the mediating receptor

Sens Carla , Rau Katrin , Altrock Eva , Klemis Verena , Tiwari Sanjay , Nakchbandi Inaam

Cholestatic liver disease is often associated with increased fracture risk. We had found that circulating levels of a fibronectin isoform called oncofetal fibronectin (oFN) were elevated in patients with primary biliary cirrhosis. Indeed, injecting oFN to mice suppressed osteoblast differentiation and bone mineral density in vivo, suggesting it is responsible for bone loss in these patients. The aim of this study was to define the mechanism by which oFN affects osteob...

ba0005p456 | Other diseases of bone and mineral metabolism | ECTS2016

Bone mineral density and TBS in patients with mutations of the alkaline phosphatase gene

Lopez-Delgado Laura , Riancho-Zarrabeitia Leyre , Valero Carmen , Tenorio Jair A , Garcia-Unzueta Mayte , Lapunzina Pablo , Riancho Jose A.

Alkaline phosphatase activity is critical for the mineralization of the bone matrix. Indeed, inactivating mutations of the ALPL gene, encoding the isoenzyme expressed in bone and liver, may result in the severe abnormalities of bone and other connective tissues that characterize hypophosphatasia. Nevertheless, the clinical spectrum of hypophosphatasia is rather broad and variable between a within families. Thus, along severe infantile forms, there are adult forms with mild man...

ba0005p457 | Other diseases of bone and mineral metabolism | ECTS2016

Mutant TGFβ1 in Camurati-Engelamann disease causes systemic manifestations and reproductive disorders more often than previously thought: report of eight Chinese families

Jiajue Ruizhi , Zhao Zhen , Wu Bo , Jiang Yan , Wang Ou , Li Mei , Xing Xiaoping , Xia Weibo

Camurati-Engelmann disease (CED) is a rare autosomal dominant bone disease with transforming growth factor-β1 (TGFβ1) gene mutation. In order to expand our limited knowledge of Chinese CED patients, we reported eight Chinese families (11 patients) diagnosed with CED. The study was approved the Department of Scientific Research of Peking Union Medical College Hospital. All the patients were evaluated genetically, clinically, biochemically and radiographically...

ba0005p458 | Other diseases of bone and mineral metabolism | ECTS2016

Colony-stimulating factor 1 receptor a (Csf1ra)-deficient zebrafish as a model of unbalanced bone remodeling

Caetano-Lopes Joana , Urso Katia , Henke Katrin , Aliprantis Antonios O , Charles Julia F , Warman Matthew L , Harris Matthew P

Osteoclasts are multinucleated giant cells derived from the monocyte/macrophage lineage in the presence of receptor activator of nuclear factor kappa-B ligand (RANKL) and colony-stimulating factor 1 (CSF1). The bone remodeling process in zebrafish is incompletely understood. Here we describe several methods to quantify bone formation and resorption using a zebrafish mutant that lacks functional colony stimulating factor 1a receptor (csf1ramh5/mh5). Mice deficient in...

ba0005p459 | Other diseases of bone and mineral metabolism | ECTS2016

Clinical, Biochemical and Radiographic Spectrum of X-linked Hypophosphatemia in Adults

Wu Bo , Jiang Yan , Xu Lijun , Wang Ou , Li Mei , Xing Xiaoping , Xia Weibo

X-linked hypophosphatemic osteomalacia (XLH) is an inherited skeletal disorder. The pathogenesis of the disease is fibroblast growth factor 23 (FGF23) induced renal phosphate wasting, hypophosphatemia and inappropriate lower 1, 25-dihydroxy-vitamin D3 concentration, which lead to impaired bone mineralization. There are only a few studies focus on phenotype of XLH patients in adulthood. Therefore, this cross-sectional study systematically described anthropometric, cl...

ba0005p460 | Other diseases of bone and mineral metabolism | ECTS2016

Chloride channel voltage-sensitive 7 (CLCN7) loss-of-function zebrafish as a genetic model of osteoclast-rich osteopetrosis

Urso Katia , Caetano-Lopes J Joana , Sury Meera , Henke Katrin , Aliprantis Antonios , Warman Matt , Duryea Jeff , Harris Matt , Charles Julia

Osteoclasts are myeloid-derived cells that degrade bone through the localized production of acid and proteases. The catabolic action of osteoclasts is counterbalanced by formation of new matrix by osteoblasts. In mammals, bone resorption and formation are coupled through crosstalk between osteoclasts and osteoblasts. Zebrafish are emerging as a valuable model to study bone biology, but how closely zebrafish osteoclast function parallels that of higher vertebrates is unknown. T...

ba0005p461 | Other diseases of bone and mineral metabolism | ECTS2016

The role of bone morphogenetic proteins in muscle regeneration of osteoarthritic patients

Iundusi Riccardo , Gasbarra Elena , Scimeca Manuel , Pignatale Ilaria , Bonanno Elena , Tarantino Umberto

Introduction: Age-related bone diseases, such as osteoarthritis (OA) and osteoporosis (OP), are strongly associated with sarcopenia and muscle fiber atrophy. Potential mechanisms involved in the reduction of skeletal muscle mass during sarcopenia converge on the failure of satellite cells in replacing and repairing damaged muscle fibers. Myostatin and bone morphogenetic proteins (BMPs) are molecules able to regulate muscle mass homeostasis by activating satellite stem cells [4...

ba0005p462 | Other diseases of bone and mineral metabolism | ECTS2016

Secondary bone size deficit in patients with Ehlers–Danlos syndrome

Verroken Charlotte , Calders Patrick , Wandele Inge De , Malfait Fransiska , Zmierczak Hans , Goemaere Stefan , Kaufman Jean-Marc , Lapauw Bruno , Rombaut Lies

Background: Ehlers–Danlos syndrome (EDS) comprises a group of inherited connective tissue disorders, caused by various defects in the biosynthesis or secretion of fibrillar collagens. As collagen represents a major constituent of the bone matrix as well as of tendons and muscle, bone strength in EDS patients might be impaired both via direct and indirect pathways. Although decreased muscle strength, decreased areal bone mineral density (BMD) and increased fracture risk ha...

ba0005p463 | Other diseases of bone and mineral metabolism | ECTS2016

Change in bone mineral density with high-dose prednisone in patients with rheumatoid arthritis

Rasch Linda , van Tuyl Lilian , Kremer Martijn , Bultink Irene , Boers Maarten , Lems Willem

Background: Recently, we showed that treatment with COBRA-light therapy including prednisone with initially 30 mg/day was as effective as the original COBRA scheme, with initially 60 mg/day (Ter Wee, ARD 2015), in the treatment of rheumatoid arthritis (RA). Since high-dose glucocorticoids are associated with bone loss, we investigated the differences in bone mineral density (BMD) after 1 year of treatment in both arms.Objective: To determine whether ther...

ba0005p464 | Other diseases of bone and mineral metabolism | ECTS2016

The course and management of craniofacial fibrous dysplasia: a case series

Majoor Bas , Appelman-Dijkstra Natasha , Bruggemann Jens , van de Sande Michiel , Dijkstra Sander , Hamdy Neveen

Introduction: Cranialfacial fibrous dysplasia (CFD) presents with pain, facial asymmetry and/or neurological complications. It has been suggested that patients with CFD respond favourably to treatment with bisphosphonates, by a decrease in pain and arrest of progression. Therefore, we performed a retrospective study of 56 patients with CFD in our center.Methods: We assessed clinical characteristics and disease course. Furthermore, clinical and biochemica...

ba0005p465 | Other diseases of bone and mineral metabolism | ECTS2016

Tracking inflammation in mouse model of fibrodysplasia ossificans progressiva prior to the detection of heterotopic ossification as a potential biomarker

Nannuru Kalyan , Jimenez Johanna , Huang Lily , Wen Xialing , Wang Lili , Xie LiQin , Idone Vincent , Murphy Andrew , Hatsell Sarah , Economides Aris

Fibrodysplasia ossificans progressiva (FOP) is a rare debilitating genetic disease characterized by abnormal progressive heterotopic endochondrial ossification of soft tissues. FOP results from mutations in the intracellular domain of the type I BMP receptor ACVR1 (ALK2) the most common of which is R206H. FOP mutations alter the sensitivity of ACVR1 to Activin A from an antagonist to an agonist. We have previously shown that Activin A is necessary and sufficient for driving he...

ba0005p466 | Other diseases of bone and mineral metabolism | ECTS2016

Bone histomorphometric alterations and chronic kidney disease in patients with osteoarthritis and osteoporosis

Feola Maurizio , Rao Cecilia , Scimeca Manuel , Buharaja Rodrigo , Scialdoni Alessandro , Tarantino Umberto

Osteoarthritis and osteoporosis are two elderly conditions characterized by two different pathophysiological mechanisms. In patients with chronic kidney disease (CKD), there is a metabolic impairment of the muscular-skeletal tissue. The aim of our study is to evaluate the biochemical and morphostructural alterations in different states of CKD in patients with osteoarthritis or hip fracture.We evaluated all patients undergoing hip replacement surgery from...

ba0005p467 | Other diseases of bone and mineral metabolism | ECTS2016

Disease activity in patients with rheumatoid arthritis according to vitamin D status

Balatska Nataliya , Synenky Omelyan , Povoroznyuk Vladyslav

Introduction: Vitamin D deficiency is common in patients with rheumatoid arthritis and may be related to disease activity.The aim of the study was to evaluate the association between 25(OH)D level and disease activity in patients with rheumatoid arthritis.Materials and methods: The study included 61 patients with rheumatoid arthritis, 73.8% were women, 70.4 patients were younger 60 years old. Subjects suffering from liver and kidne...

ba0005p468 | Other diseases of bone and mineral metabolism | ECTS2016

In vitro model of antioxidant prevention of urolithiasis

Kizivat Tomislav , Smolic Martina , Bilic-Curcic Ines , Smolic Robert , Maric Ivana , Roguljic Hrvoje , Tolusic-Levak Maja , Kuna Lucija , Vcev Aleksandar , Tucak Antun

Urolithiasis is characterized by formation and retention of solid crystals within the urinary tract. There are numerous causes that may lead to urinary stone formation. However, kidney stones are mostly composed of calcium oxalate that predominantly generates free radicals that are toxic to renal tubular cells.The aim of the study is to explore the toxic effect of oxalate to renal epithelial cells and to explore possible effects of antioxidants on its in...

ba0005p469 | Other diseases of bone and mineral metabolism | ECTS2016

FGF23 and vitamin D metabolism in chronic kidney disease – mineral bone disorder

Piec Isabelle , Chipchase Allison , Nicholls Holly , Washbourne Christopher , Tang Jonathan , Fraser William D.

Fibroblast growth factor-23 (FGF23) is a major regulator of phosphate metabolism often elevated in genetic hypophosphataemic disorders and in chronic kidney disease–bone mineral disorder (CKD–BMD). Recent studies have identified relationships between FGF23 and vitamin D.Objectives: To determine the relationship between vitamin D and FGF23 metabolism in CKD.Method: We used randomized samples from patient...

ba0005p470 | Other diseases of bone and mineral metabolism | ECTS2016

Dose response radiation induced bone loss: FDG PET-CT shows a threshold effect in changes in metabolism and density

Oz Orhan K , Ramezani Saleh , Cuberovic Ivana , Anderson Jon , Brown Keenan , Medin Paul

Radiosurgery of the spine is used to treat patients with spinal metastases. Recent studies have shown increased fracture risk in patients treated with high doses of irradiation. This study tested if there is a dose response relationship between prescribed radiation and induced bone loss and metabolism.Methods: Vertebral bodies C5–C7 of ~50 week old female Yucatan minipigs were irradiated at 16, 20, and 24Gy (n=5/dose). The cervical spine re...