Searchable abstracts of presentations at key conferences on calcified tissues

ba0002p145 | (1) | ICCBH2013

The recurrent IFITM5 c.−14C>T transition which causes osteogenesis imperfecta type V occurs at a highly methylated CpG dinucleotide: a novel mutational hot-spot?

Monti Elena , Mottes Margherita , Venturi Giacomo , Corradi Massimiliano , Gandini Alberto , Maines Evelina , Morandi Grazia , Piona Claudia , Antoniazzi Franco

Background: Osteogenesis imperfecta (OI) is a heterogeneous group of disorders characterized by bone fragility. The current classification comprises five forms (OI types I–V) with autosomal dominant inheritance and seven rarer forms (OI types VI–XII) with recessive inheritance. OI type V (MIM 610967) has distinguishing radiological features, such as propensity to hyperplastic callus formation, calcification of the forearm interosseous membrane, radial-head dislocatio...

ba0001pp500 | Other diseases of bone and mineral metabolism | ECTS2013

IFITM5 c.−14C>T mutation causes variable type V osteogenesis imperfecta phenotype and decreased COL1A1 expression but increased mineralization by cultured proband osteoblasts

Reich Adi , Bae Alison S , Barnes Aileen M , Cabral Wayne A , Chitayat David , Marini Joan C

Introduction: Osteogenesis imperfecta (OI) is a genetically heterogeneous disorder characterized by bone fragility. OI type V, with autosomal dominant inheritance, is characterized by ossification of the forearm interosseus membrane, radiodense metaphyseal bands, propensity for hyperplastic callus formation, and mesh-like lamellation on bone histology. Type V OI probands are reported to have white sclerae and normal teeth. Recent reports identified the cause of type V OI as a ...

ba0005p228 | Energy metabolism and bone, fat and bone | ECTS2016

Effects of roux-en-Y gastric bypass surgery on bone quality: a pilot study

Hogestol I.K. , Paschalis E.P. , Gamsjaeger S. , Hassler N. , Shabestari M.G. , Gulseth H.L. , Mala T. , Klaushofer K. , Eriksen E.F.

Roux-en-Y gastric bypass surgery (RYGBP) is one of the leading surgical treatments for morbid obesity and leads to significant long-term weight loss, diabetes remission, decreased cardiovascular events, and reduced mortality. RYGBP is, however, also implicated in increased fracture risk, mainly due to higher bone turnover rates and malabsorption. In the present study we used Raman microspectroscopic analysis to determine bone quality (an important determinant of bone strength)...

ba0003w1.3 | Extracellular vesicles: from old to new frontiers | ECTS2014

Extracellular RNAs and cell to cell communication

Nolte-t Hoen Esther

Release of RNA into the extracellular space is a newly identified means of intercellular communication operating in many organisms. Such extracellular RNAs can be released via 50–1000 nm vesicles Almost all cell types produce such extracellular vesicles (EV) and the secretion and proteins/lipids per RNA content is regulated by the producing cell. Besides release of vesicle-enclosed genetic material, cells can also release RNA in association with macromolecular protein com...

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...

ba0003pp331 | Osteoporosis: treatment | ECTS2014

Prevalence of osteoporosis treatment depending on the risk evaluation of the osteoporotic fractures in patients with rheumatoid arthritis in Russia

Dydykina Irina , Vetkova Elizaveta , Podvorotova Marina , Taskina E , Smirnov A , Sinenko A , Ruskina T , Peshekhonov D , Myasoedova S , Zavodovski B , Dydykina P , Petrova E , Zhigulin V , Alekseeva L , Nasonov E

Background: It is known that one of the features of rheumatoid arthritis (RA) is a generalized bone loss, therefore important tasks for the physician are timely evaluating of the risk of fractures and approving osteoporosis treatment in patients with RA.Objectives: Through the Programme of the Russian Association of Rheumatology for the diagnosis, prevention and treatment osteoporosis (OP) in patients with RA we evaluated the 10 year probability of major...

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...

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...

ba0003pp223 | Osteoporosis: evaluation and imaging | ECTS2014

Bone mineral density and bone turnover markers in patients with thyroid cancer and L-T4 suppressive therapy after 25 years of follow-up

de Mingo Dominguez Maria Luisa , Iglesias Sonsoles Guadalix , Alvarez Maria Begona Lopez , Diaz-Guerra Guillermo Martinez , Carranza Federico Hawkins

Background: Patients with differentiated thyroid cancer (DTC) are treated with L-thyroxine (L-T4) in relatively hight doses to suppress endogenous TSH levels. Very long-term effect of thyroid hormones supplementation on bone are controversial.Objetive: To study the possible negative effects on bone mineral density (BMD) and bone markers in DTC patients followed in our center.Methods: A 46 po...

ba0007lb1 | (1) | ICCBH2019

Genetic inactivation of osteocalcin in Col1a1Jrt/+ mice, a model of dominant osteogenesis imperfecta, restores glucose metabolism to wild-type levels

Tauer Josephine T , Komarova Svetlana V

Objective: Osteocalcin, an osteoblast-derived hormone, is among the most abundant proteins in bone and is involved in the regulation of whole-body metabolism, muscle adaptation, and reproduction. High bone turnover and low bone mass are clinical hallmarks of Osteogenesis Imperfecta (OI), a bone disease mainly caused by mutations in the collagen-I gene. Recently, we have shown that growing mice with a severe dominant form of OI, Col1a1Jrt/+ mice, displayed significantly elevate...