Searchable abstracts of presentations at key conferences on calcified tissues

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...

ba0002p123 | (1) | ICCBH2013

Inadequately treated hypophosphataemic rickets in 14-year-old boy: a case report

Athanasakos Athanasios , Bizimi Vasiliki , Atsali Eri , Skaradavos Gregory , Sideri Natali , Oikonomoulas Georgios , Alexopoulou Efthymia , Papakonstantinou Olympia

: Inadequately treated hypophosphataemic rickets (HR) in 14-year-old boy: a case reportBackground: HR is a rare cause of short stature associated with limb deformities.Objective: To report the clinical, laboratory and radiologic features of HR in a 14-year-old boy.Presenting problem: We present the case of the 14-year-old boy, with short stature and deformities of extremities, who complained for limb pain and...

ba0002p130 | (1) | ICCBH2013

‘Bone in bone' sign in juvenile osteoporosis in a 13-year-old girl

Sakalidou Maria , Atsali Eri , Bizimi Vasiliki , Skaradavos Gregory , Balanika Alexia , Athanasakos Athanasios , Alexopoulou Efthymia , Papakonstantinou Olymbia

Background: We present an interesting case of a young child under bisphosphonates, for the treatment of juvenile osteoporosis (IJO), that developed a ‘bone in bone sign’, in several vertebral bodies, evident both on radiographs (CRX) and on magnetic resonance (MR) studies.Presenting problem: A 13-year-old girl was admitted in our hospital complaining with thoracolumbar pain. The patient had been diagnosed with IJO 2 years ago because of.a histo...

ba0007p163 | (1) | ICCBH2019

Prenatal oligohydramnios is associated with hip shape in adolescent males

Tobias Jon , Frysz Monika , Lawlor Debbie , Aspden Richard , Gregory Jennifer , Ireland Alex

Hip development is influenced by mechanical loading during fetal movement by joint and reaction forces equivalent to several times bodyweight. These forces increase with fetal size and gestation length, and are lower in oligohydramnios and breech presentation which are both risk factors for developmental hip disorders. However, associations between indicators of prenatal mechanical loading and hip shape in later life remain unexplored. We therefore examined associations betwee...

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...