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...

ba0001pp284 | Muscle, physical activity and bone | ECTS2013

Raising CK: what it means according to different clinical landscape?

Juan Jose Scali , Visentini Susana , Berruezo Ramiro , Sevilla Daniel , Pacheco Gonzalo , Garcia Rodrigo

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...

ba0002op11 | (1) | ICCBH2013

Artistic gymnasts display micro-architectural advantages over trampolining and tumbling gymnasts: a high resolution peripheral quantitative computed tomography study

Burt Lauren A , Stanger Scott P , Schipilow John D , Boyd Steven K

Participation in high impact sports during growth increases bone quality. Gymnasts have previously displayed increased bone mass and strength at both the upper and lower limbs compared with controls. However, it is not yet understood how bone microarchitecture is affected by gymnastics participation, and if this differs based on gymnastics discipline. Therefore, the objective of this study was to investigate the influence of gymnastics discipline on bone microarchitecture in a...

ba0002p57 | (1) | ICCBH2013

Heterozygous mutation in GALNT3 in a case of hyperphosphataemic familial tumoral calcinosis

Knight Katie , Cheung Moira , Allgrove Jeremy

Background: Hyperphosphataemic familial tumoral calcinosis (HFTC) is a rare autosomal recessive condition in which increased renal phosphate reabsorption is associated with elevated serum phosphate, inappropriately normal or raised PTH and extraosseous calcification. It is caused by mutations in genes related to phosphate metabolism: fibroblast growth factor 23 (FGF23), UDP-N-acetyl-D-galactosamine:polypeptide N-acetylgalactos...

ba0002p191 | (1) | ICCBH2013

Long-term follow-up in Stuve–Wiedemann syndrome: a case report

Sabrina Buonuomo Paola , Macchiaiolo Marina , Cambiaso Paola , Capolino Rossella , Digilio Maria Cristina , Andrea Bartuli

Background: Stuve–Wiedemann syndrome (SWS, OMIM 601559) is a severe autosomal recessive condition characterized by bowing of the lower limbs with cortical thickening, wide metaphyses, abnormal trabecular pattern and camptodactyly. Additional features include dysautonomia symptoms with temperature instability, respiratory distress and sucking/swallowing difficulties in the first months of life.Most SWS cases do not survive beyond the first y...

ba0003cu1.5 | Postmenopausal osteoporosis, vitamins and minerals | ECTS2014

Treatment of postmenopausal osteoporosis: long-term benefit and risk

Abrahamsen Bo

Effective treatments are available to reduce fracture risk in patients with postmenopausal osteoporosis. Though factors have been identified that modify the effect of treatment with one or more the currently available drugs, as a rule patients will benefit more from treatment the higher their base risk of fracture. From a societal and clinical point of view it is surprising that many guidelines for postmenopausal osteoporosis do not target treatment to patients at the highest ...

ba0004p65 | (1) | ICCBH2015

Results of a specialized rehabilitation approach in osteogenesis imperfecta

Semler Oliver , Hoyer-Kuhn Heike , Stark Christina , Schoenau Eckhard

Introduction: Osteogenesis imperfecta is a rare disease leading to immobility by recurrent fractures, immobilization, short stature and muscular weakness. Beside drug treatment and surgical procedures physiotherapy is the most important treatment approaches to increase mobility. The objective of our analysis was to evaluate the effect of a new standardized 12 months physiotherapy concept including whole body vibration over 6 months on motor function and bone mineral density in...

ba0005p363 | Osteoporosis: pathophysiology and epidemiology | ECTS2016

Lower FRAX scores but similar femoral neck aBMD in UK dwelling postmenopausal South Asian women as compared with same age Caucasian women

Darling Andrea L , Hart Kathryn H , Lanham-New Susan A

It is unclear as to whether western dwelling South Asian (SA) postmenopausal women have a different fracture risk to that of the native Caucasian (C) population. Moreover, the WHO Fracture Risk Assessment Tool (FRAX) has not been used previously to compare predicted risk of fractures in western dwelling South Asian women with same-age Caucasian women. This analysis used data from n=35 SA [mean (S.D.) age=59 (6) years] and n=136 C [mean (...

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...

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...