Searchable abstracts of presentations at key conferences on calcified tissues

ba0005oc5.6 | Risk factors for fracture, Pagets disease of bone and musle and bone | ECTS2016

The metabolic alterations behind bone fragility in Duchenne muscular dystrophy

Broggi Francesca , Vai Silvia , Maggi Lorenzo , Gorni Ksenija , D'Angelo Grazia , Pane Marika , Bianchi Maria Luisa

Low bone mineral density (BMD) and an increased rate of both peripheral and vertebral fractures have been observed in patients with Duchenne muscular dystrophy (DMD), but studies on bone metabolic alterations in this disease are still very few.We are now presenting the preliminary findings of an ongoing multicenter, prospective study aimed to identify the characteristics of DMD boys carrying a higher risk of bone loss and fractures, through the evaluatio...

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...

ba0006p053 | (1) | ICCBH2017

Determinants of bone density in Duchenne muscular dystrophy

Broggi Francesca , Vai Silvia , Baranello Giovanni , Gorni Ksenja , D'Angelo Grazia , Pane Marika , Vita Gianluca , Bianchi Maria Luisa

Objectives: Low bone mineral density (BMD) and increased frequency of peripheral and vertebral fractures have been reported in boys with Duchenne muscular dystrophy (DMD), but studies on the determinants of low BMD are still very few. We are currently carrying out a multicenter, prospective study aimed to identify the characteristics of DMD boys with a higher risk of bone loss and fractures.Methods: Forty-two DMD boys (mean age 9.9±3.3 years) underw...

ba0002p48 | (1) | ICCBH2013

Pubertal induction with testosterone of a boy with bilateral anorchia guided by the development of his monozygotic twin brother

Van Caenegem Eva , Vandewalle Sara , Taes Youri , Kaufman Jean-Marc , Craen Margarita , Guy T'Sjoen

Introduction: We describe a monozygotic twin pair, of which one boy was diagnosed with anorchia. Both were followed-up till age 17.Case report: At birth, in one twin 46 XY boy (A), testes were not palpable while his brother (B) was unaffected. Stimulation with human chorionic gonadotrophin (hCG) and orchidopexia were unsuccessful at age 3. A second hCG-stimulation test was performed at age 8, where serum testosterone response failed to increase. No testi...

ba0007p24 | (1) | ICCBH2019

The role of the RACK1-c-Src axis in regulation of osteoclast function

Park Jin Hee , Jeong Eutteum , Lee Soo Young

Activation of p38 MAPK by RANKL is regulated by the scaffolding protein receptor for activated C-kinase 1 (RACK1) in osteoclast precursors, whereas it is unclear whether RACK1 can also affect in mature osteoclasts. In this study, to identify that the interaction of RACK1 with c-Src is essential for osteoclast function, we generated several mutants affecting the RACK1-c-Src association. A RACK1 mutant protein (mutations of tyrosine 228 and 246 residues to phenylalanine) disrupt...

ba0001pp283 | Genetics | ECTS2013

Discovery and replication of several loci significantly associated with lean body mass: a large meta-analysis of genome wide association studies (GWAS) from the ‘charge’ and ‘gefos’ consortia

Kiel Douglas P , Yerges-Armstrong Laura M , Hsu Yi-Hsiang , Stolk Lisette , Karasik David , Loos Ruth J F , Gudnason Vilmundar , Smith Albert , O'Connell Jeffrey R , Fu Amish , Fu Mao , Streeten Elizabeth A , Cauley Jane A , Robbins John A , Psaty Bruce , Johnson Toby , Kutalik Zoltan , Mitchell Braxton D , Livshits Gregory , Harris Tamara B , Ohlsson Claes , Zillikens M Carola

Introduction: The creatine kinase (CK) is a dimeric enzyme, involved in energetical metabolism. It is present in many tissues, but higher concentration in skeletal and cardiac muscle.Therefore, conditions that involve muscle tissue may increase this serum enzyme. Such enzyme elevation is usually observed in inflammatory myopathies and others autoimmune diseases.Sometimes some elevation in CK is not fully understood out off these co...

ba0003pp297 | Osteoporosis: treatment | ECTS2014

Contribution of circulating sclerostin and estradiol for inadequate response to bisphosphonate therapy in women with postmenopausal osteoporosis

Munoz-Torres M , Diez-Perez A , Olmos J M , Nogues X , Sosa M , Diaz-Curiel M , Perez-Castrillon J L , Perez-Cano R , Torrijos A , Jodar E , Rio L Del , Caeiro-Rey J R , Rubio V Avila , Garcia-Martin A , Reyes-Garcia R , Garcia-Fontana B , Gonzalez-Macias J , Morales-Santana S

Bisphosphonate treatment reduces fracture risk in women with postmenopausal osteoporosis. However, some patients have an inadequate response to treatment. Estradiol and sclerostin play an important role in bone metabolism. Sclerostin is an endogenous inhibitor of osteoblastic activity and estrogen deficiency increases osteoclast activity and bone resorption.We examined the influence of both measures on fracture incidence in postmenopausal osteoporosis in...

ba0002p22 | (1) | ICCBH2013

Association of volumetric bone mineral density, bone morphometry and trabecular bone micro-architecture with leptin and soluble leptin receptor in adolescent idiopathic scoliosis

Tam Elisa M S , Yu Fiona W P , Hung Vivian W Y , Liu Zhen , Lam Tsz-Ping , Liu King Lok , Ng Bobby K W , Lee Simon K M , Qiu Yong , Cheng Jack C Y

Objectives: Low bone mass in adolescent idiopathic scoliosis (AIS) has been well reported, however the etiologies of the disease and this abnormal phenotype were still unknown. Leptin have profound effects on bone metabolism and skeletal growth, and was speculated to play a role in the etiopathogenesis of AIS. The objective of this study was to investigate the bone quality in AIS and its association with leptin and soluble leptin receptor (sOB-R).Methods...

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=...

ba0004p60 | (1) | ICCBH2015

Comparing two scanning protocols for high-resolution peripheral quantitative computed tomography for bone quality assessment in young subjects

Cheuk Ka Yee , Zhang Jiajun , Tsang Echo , Yu Fiona , Hung Vivian , Tam Elisa M S , Lam Tsz Ping , Lee Simon K M , Ng Bobby K W , Cheng Jack C Y

Objectives: High resolution peripheral quantitative computed tomography (HR-pQCT) was used to evaluate bone quality and volumetric bone mineral density (vBMD). However, manufacturers only provide a standard protocol for adult but not for growing subjects. The aim of this study was to investigate the difference on measurement between two different HR-pQCT scanning protocols in adolescence with unfused growth plate.Methods: 27 boys and 26 girls aged 13&#15...