Searchable abstracts of presentations at key conferences on calcified tissues

ba0005p372 | Osteoporosis: pathophysiology and epidemiology | ECTS2016

Sex hormone-binding globulin is associated with markers of vertebral fracture and vertebral fracture risk

Koromani Fjorda , Muka Taulant , Oei Ling , Zillikens Carola , Hofman Albert , Uitterlinden Andre G , Oei Edwin , Hans Didier , Franco Oscar H , Rivadeneira Fernando

Background: The relation between sex hormone-binding globulin (SHBG) and vertebral fracture (VFx) is unclear.Aim: To examine whether SHBG is associated with bone mineral density at lumbar spine (LS-BMD), trabecular bone score (TBS) and prevalent VFx.Methods: Data of 6224 men and women participants in the third visit of the first cohort (I-3) and the first visit of the second cohort (II-1) of a prospective population based cohort, w...

ba0005p373 | Osteoporosis: pathophysiology and epidemiology | ECTS2016

The association between diabetes, trabecular bone score, bone mineral density and vertebral fractures

Koromani Fjorda , Muka Taulant , Oei Ling , Zillikens Carola , Hofman Albert , Franco Oscar H , Uitterlinden Andre G , Oei Edwin , Hans Didier , Rivadeneira Fernando

Background: Fracture risk is increased in Type 2 diabetes (T2D) individuals. Bone mineral density (BMD) is inversely associated with fracture risk but paradoxically high in T2D individuals. Trabecular bone score (TBS) reflects bone microarchitecture and predicts fracture risk.Objective: We aimed to compare mean lumbar spine TBS (LS-TBS) and lumbar spine BMD (LS-BMD) values, across individuals with and without i) vertebral fracture (VFx), ii) T2D; and iii...

ba0005p374 | Osteoporosis: pathophysiology and epidemiology | ECTS2016

Long term follow-up of fracture incidence and fracture prediction from bone mineral density

Trajanoska Katerina , de Jonge Ester A L , Kieboom Brenda C T , Mulder Marlies , Stricker Bruno H C , Franco Oscar H , Uitterlinden Andre G , Rivadeneira Fernando

Introduction: Due to the ‘greying’ of (industrialized) societies the incidence of osteoporosis and fragility fractures is expected to be increasing. Our aim was to investigate in an elderly population if the incidence of non-vertebral fractures (overall and site specific) has changed after a longer follow-up, and its relation with osteoporosis or osteopenia assessed by bone mineral density (BMD) at baseline.Methods: Incident non-vertebral fract...

ba0006p146 | (1) | ICCBH2017

Stature and longitudinal growth in glucocorticoid naive boys with Duchenne Muscular Dystrophy

Joseph S , Edwards G , DiMarco M , Abu-Arafeh I , Baxter A , Horrocks I , McWilliams K , Naismith K , Stephen E , Ahmed S F , Wong S C

Background: Previous studies with small number of boys with Duchenne Muscular Dystrophy (DMD) suggest that growth failure occurs in glucocorticoid naïve (GC) boys.Objective: To evaluate height and longitudinal growth in boys with DMD prior to GC.Method: Retrospective evaluation in boys with DMD with height measurements obtained for clinical purposes. Out of the 91 boys currently managed in Scotland, 51 had at least one height ...

ba0007p71 | (1) | ICCBH2019

Necessity of high dose and prolonged duration denosumab post stem cell transplant for TNFRSF11A osteoclast-poor autosomal recessive osteopetrosis

Taylor-Miller Tashunka , Doss Hemalatha , Weerdenburg Heather , Whiting Sam , Sivaprakasam Ponni , Gassass Adam , Smithson Sarah F , Steward Colin G , Burren Christine P

Background: Hypercalcaemia is a risk following stem cell transplant (SCT) for all types of autosomal recessive osteopetrosis (ARO) due to restored osteoclast differentiation. This can be particularly severe in the osteoclast-poor (OP) form involving the tumour necrosis factor receptor superfamily 11A (TNFRSF11A) gene, encoding RANK. Denosumab, a monoclonal antibody blocking RANK activation, has been described for refractory post-SCT hypercalcaemia in two cases. Our case adds n...

ba0007p156 | (1) | ICCBH2019

Patients with nephropatic cystinosis display lower cortical thickness and grip strength

Bechtold-Dalla Pozza Susanne , Froschauer Sonja , Harms Erik , Herzig Nadine , Holla Heike , Knerr C , Koeppel Christian , Landthaler I , Prilinger C , Steidle G , Vill Katharina , Treikauskas Ulrike , Hohenfellner Katharina

Objective: Nephropathic cystinosis is an orphan autosomal recessive lysosomal storage disease characterized by a deficiency of cystinosin, a cysteine transporter protein, encoded by CTNS. As a consequence of the disease cystine crystals accumulate leading to tissue damage, primarily in kidney and cornea. With improved medical care, new challenges like skeletal complications are a matter of concern. Only few data are available dealing with bone development. The aim of our study...

ba0001oc3.5 | Osteoporosis pathophysiology and genetics | ECTS2013

Genome-wide association identifies a new susceptibility locus at 4q35 associated with clinical vertebral fractures in post-menopausal women: the GEFOS-GENOMOS consortium

Alonso N , Estrada K , Herrera L , Kabir D , Olmos J M , Sanudo C , Riancho J A , Oei L , Medina-Gomez M C , Stenkjaer L , Bjerre L , Langdahl B , Brown M A , Duncan E L , Sims M , Kaptoge S , Reeve J , Lewis J , Prince R , Reppe S , Olstad O K , Gautvik K M , Garcia-Giralt N , Nogues X , Mencej-Bedrac S , Marc J , del Pino J , Gonzalez-Sarmiento R , Wolstein O , Eisman J , Feenstra B , Melbye M , Albagha O M E , WTCCC , Davies G , Starr J , Deary I , Quintela I , Fernandez C , Carracedo A , Lucas G , Elosua R , Uitterlinden A G , Rivadeneira F , Ralston S H

Vertebral fractures (VF) defined by morphometric analysis of spine radiographs are the most common complication of osteoporosis. Those that come to medical attention, with symptoms such as back pain and kyphosis are termed clinical vertebral fractures (CVF) and account for significant morbidity and mortality. Although much progress was made in identifying loci for bone mineral density, the genetic determinants of CVF remain unclear. Here we present the initial results from a g...

ba0007p18 | (1) | ICCBH2019

Bone mass and fracture prevalence in childhood brain cancer survivors (CBCS) 2 or 5 years after off therapy

Di Iorgi Natascia , Gallizia Annalisa , Mauro Vera , Crocco Marco , Garre Maria Luisa , Maghnie Mohamad

Background and aim: Multifaceted risk factors impair bone mass in childhood cancer survivors. Aims of the study were to evaluate bone mass and it’s determinant and fracture prevalence in CBCS 2 (G+2) or 5 (G+5) years after off therapy (OT).Methods: Seventy-three (G+2) and 87 (G+5) CBCS were evaluated at 12.9±4.2 and 14.9±4.4 yrs, respectively. Diagnoses were: astrocytic (G+2:n=25, G+5:n=24), embryonal (G+2:n=28, ...

ba0001pp282 | Genetics | ECTS2013

Phenotypic dissection of bone mineral density facilitates the identification of skeletal site specificity on the genetic regulation of bone

Kemp John P , Medina-Gomez Carolina , Estrada Karol , Heppe Denise , Zillikens Carola , Timpson Nicholas , Pourcain Beate , Ring Susan , Hofman Albert , Jaddoe Vincent V W , Smith George Davey , Uitterlinden Andre G , Tobias Jonathan H , Rivadeneira Fernando , Evans David M

Heritability of bone mineral density (BMD) varies at skeletal sites, possibly reflecting different relative contributions of environmental and genetic influences. To quantify shared genetic influences across different sites, we estimated the genetic correlation of BMD at the upper limb (UL), lower limb (LL), and skull (S) obtained from whole body DXA scans, using bivariate genome-wide complex trait analysis (GCTA). The study (n=9395) combined data from the Avon Longit...