Searchable abstracts of presentations at key conferences on calcified tissues

ba0001pp270 | Genetics | ECTS2013

SQSTM1/P392L post-zygotic mutations in unrelated patients with Paget's disease of bone

Guay-Belanger Sabrina , Gagnon Edith , Morissette Jean , Brown Jacques P , Michou Laetitia

Introduction: Paget’s disease of bone (PDB) has an autosomal-dominant mode of inheritance in one-third of cases. The germinal SQSTM1/P392L mutation is the most frequent mutation, present in 40% of patients with a familial form of PDB, and 8% of unrelated patients. Fibrous dysplasia (FD) is a rare bone disorder, mono or polyostotic, caused by post-zygotic mutations in GNAS gene, for which a PCR-clamping method was developed to ease their detection and avo...

ba0007is8 | (1) | ICCBH2019

Vitamin D in pregnancy and offspring immunology

Hawrylowicz Catherine , Hornsby Eve , Cheadle Charlotte , Pfeffer Paul , Laranjo Nancy , Cruikshank William , Tuzova Marina , Litonjua Augusto A , Weiss Scott T , Carey Vincent J , O'Connor George

Vitamin D deficiency in pregnancy is common, and is linked to increased risk of adverse outcomes including preterm birth, preeclampsia, infection, gestational diabetes and asthma. Vitamin D possesses well-recognized immunomodulatory functions, and programming of the immune system during foetal development can influence asthma-related risk factors and health outcomes in later life. We hypothesized that influencing vitamin D status during pregnancy would impact the immune profil...

ba0005p143 | Cell biology: osteoblasts and bone formation | ECTS2016

RUNX2, osterix and the human sclerostin gene: searching molecular and epidemiological interactions

Perez-Campo Flor , Santurtun Ana , Garcia-Ibarbia Carmen , Pascual Maria A , Valero Carmen , Garces Carlos , Sanudo Carolina , Zarrabeitia Maria T , Riancho Jose A

Sclerostin, encoded by the SOST gene, functions as an inhibitor of the Wnt pathway and thus it is an important regulator of bone homeostasis. The fact that osteoblasts, the only cells expressing SOST, lay buried deeply in the bone matrix, poses intrinsic difficulties to the study of the regulation of this gene. Since RUNX2 and SP7/OSX are two known regulators of the differentiation of cells of the osteoblastic lineage, the aim of this study was to determine t...

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...

ba0003oc1.6 | Phosphate metabolism, fracture repair and osteoarthritis | ECTS2014

The role of neuropeptide Y Y1 receptor signalling in fracture healing

Sousa Daniela M , McDonald Michelle M , Mikulec Kathy , Peacock Lauren , Little David G , Herzog Herbert , Lamghari Meriem , Baldock Paul A

Recent studies have demonstrated that the global or osteoblast-specific deletion of neuropeptide Y Y1 receptor (Y1R), as well as the pharmacological blockade of Y1R, leads to pronounced anabolic effects in bone metabolism. This suggests that anti-Y1R drug therapy might have clinical applications for the prevention/recovery of bone loss occurring in osteoporosis. Given the high fracture incidence in this target population, it remained...

ba0006lb1 | (1) | ICCBH2017

Treatment with a Novel activin receptor IIB ligand trap improves muscle mass and bone geometry in a mouse model of severe Osteogenesis Imperfecta

Tauer Josephine T. , Rauch Frank

Objective: Osteogenesis imperfecta (OI) is primarily characterized by bone fragility but is also associated with lower muscle mass and function. As muscle mass and bone mass are closely linked, an intervention that increases muscle mass should also increase bone mass. Here we investigated the effect of a novel activin receptor IIB ligand trap, ACE-2494 (Acceleron Pharma), on skeletal muscle mass and bone properties in a mouse model of severe dominant OI, the Col1a1<su...

ba0007p91 | (1) | ICCBH2019

Bone health index by hand X-ray compared with bone mineral density by dual-energy X-ray absorptiometry in children with Duchenne muscular dystrophy

Bowden Jonathan J , Krishnamurthy Ramkumar , Hu Houchun , Adler Brent , Krishnamurthy Rajesh , Bowden Sasigarn A

Objectives: Children with Duchenne muscular dystrophy (DMD) receiving long-term glucocorticoid (GC) therapy are at risk for osteoporosis and fragility fractures. Recent studies showed that cortical thickness and areas were associated with increased fracture risk. Digital X-ray measurement of the cortical thickness of the metacarpal bones has a potential role as a marker for bone health in children, but has not been evaluated in DMD. The aim of this study was to compare bone ag...

ba0002p67 | (1) | ICCBH2013

Dual-energy X-ray absorptiometry in predicting clinical bone disease in adults with childhood onset end-stage renal disease

van Huis Maike , Vogelzang Judith , van der Lee Hanneke , Boot Annemieke , Groothoff Jaap

Objectives: Metabolic bone disease is a frequent complication of end-stage renal disease, characterised by a decreased bone mineral density, which can be measured with dual-energy X-ray absorptiometry. Its validity as a marker for clinical bone disease and increased fracture risk has never been established in adults with pediatric onset of end-stage renal disease (1–3). Adult survivors of pediatric end stage renal disease have very low bone mineral density and small statu...

ba0006p009 | (1) | ICCBH2017

Sexual dimorphism in cortical bone morphology during adolescent growth in Chinese

Cheuk Ka-Yee , Wang Xiaofang , Yu Fiona W P , Tam Elisa M S , Ng Bobby K W , Ghasem-Zadeh Ali , Zebaze Roger , Seeman Ego , Cheng Jack C Y , Lam Tsz-Ping

Objective: Previous study in Hong Kong reported boy-to-girl ratio of limb fracture was 5.5:1 in the adolescent group. Chinese children have increased risk for forearm fracture during puberty. This study aimed to investigate cortical growth in healthy Chinese adolescents during pubertal growth.Methods: 214 boys and 219 girls aged between 7 and 17 years old with no bone diseases were recruited. Maturity was assessed by self-reported Tanner staging. Images ...

ba0002p152 | (1) | ICCBH2013

Zinc supplementation improves bone density in young adults with thalassemia

Fung Ellen B , Kwiatkowski Janet L , Huang James N , Gildengorin Ginny , King Janet C , Queisser Anne C , Vichinsky Elliott P

Poor bone mineralization remains a major health problem in patients with Thal and has been linked to functional zinc deficiency despite adequate dietary intake. The global etiology of poor bone mineralization includes inadequate dietary intake of calcium and vitamin D, endocrinopathies leading to disturbed calcium homeostasis, dysregulation of the GH–IGF1 axis, and delayed puberty, all resulting in limited growth, decreased bone formation and increased bone resorption. Th...