Searchable abstracts of presentations at key conferences on calcified tissues

ba0002p111 | (1) | ICCBH2013

Vitamin D status and association to bone health in 781 healthy 8–11 years old Danish school children: preliminary results from the Opus school meal study

Petersen R A , Damsgaard C T , Dalskov S , Sorensen L B , Laursen R P , Hjorth M F , Andersen R , Tetens I , Krarup H , Astrup A , Michaelsen K F , Molgaard C

Background: Low vitamin D concentrations among children and adolescents at northern latitudes are frequently observed. Also, inverse associations between 25-hydroxyvitamin D (25(OH)D) and PTH concentrations have been found in children of different ages. More studies on the link between vitamin D status and childhood bone health are needed.Objective: To evaluate the status of serum 25(OH)D in autumn and the association between 25(OH)D concentrations and b...

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 ...

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...

ba0005p321 | Osteoporosis: evaluation and imaging | ECTS2016

The T-score standard in osteoporotic sheep model: insight into independent reference group

Khassawna Thaqif El , Engelhardt Markus , Weisweiler David , Bocker Wolfgang , Schmitt Jakob , Heiss Christian

FDA guidelines recommend the sheep as large animal model for osteoporosis. Studies of osteoporosis induction use dual energy x-ray absorptiometry (DEXA) to evaluate bone status. Experimentally, the T-score is calculated based on reference bone mineral density (BMD) values of animals before treatment (0 M). Whereas clinically the reference BMD represents values of an independent group of patients around 30 years old. The study hypothesize that the use of additional ind...

ba0005oc6.2 | Development and differentiation (or Aging) | ECTS2016

Bone with uncleavable type I collagen C-propeptide has abnormal development of multiple bone cell populations and increased bone mineral density with age

Barnes Aileen M , Perosky Joseph E , Blouin Stephane , Rajpar M Helen , Khoury Basma , Klaushofer Klaus , Roschger Paul , Fratzl-Zelman Nadja , Kozloff Kenneth M , Marini Joan C

Mutations in the C-propeptide cleavage site of both COL1A1 and COL1A2 cause dominant high bone mass (HBM) osteogenesis imperfecta (OI), characterized by bone hypermineralization. To elucidate the role of C-propeptide processing in bone formation, we generated heterozygous HBM mice in which both residues of the COL1A1 cleavage site were mutated to prevent cleavage by BMP1. HBM mice are smaller than WT in both weight and length and have extremely brittle bones....

ba0001pp252 | Chondrocytes and cartilage | ECTS2013

Modulation of c-Myb during chondrogenesis

Oralova Veronika , Buchtova Marcela , Janeckova Eva , Tucker Abigail , Matalova Eva

The c-Myb transcription factor is associated with proliferation of undifferentiated cells in number of tissues, but recent data suggests its role also in differentiation. c-Myb is important in formation of the cartilage, bone and apparently also in hard tissue mineralization (Matalova et al. 2011).Embryonic micromasses were established from mouse front limbs at the embryonic day E12. Micromass cultures represent an effective tool for experimenta...

ba0001pp14 | Arthritis and other joint diseases: translational and clinical | ECTS2013

Prophylaxis of gout flare with colchicine and vitamin C

Monov Simeon , Monova Daniela , Rashkov Rasho

Background: The incidence and prevalence of gout have markedly increased over the last few decades in keeping with the rise in prevalence of obesity and metabolic syndrome. The management of gout in patients with associated metabolic syndrome and comorbid illnesses such as renal impairment was difficult because of limited treatment options. Recent efficacy and safety data favour lower over higher doses of colchicine, and oral corticosteroids over non-steroidal anti-inflammator...

ba0006p051 | (1) | ICCBH2017

Low bone density and fragility fractures in unbalanced translocation T(9;11)

Vai Silvia , Broggi Francesca , Bianchi Maria Luisa

Background: Trisomy 9p is a rare abnormality caused by duplication of the short arm of chromosome 9. Translocation t(9;11) is a rarer variant. Both anomalies are compatible with long survival. Clinical manifestations are very variable, and include short height, mental retardation, hypertelorism, strabismus, foot/hand anomalies, delayed bone maturation. Low bone mineral density (BMD) or fragility fractures have never been reported.Presenting prob...

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...

ba0003pp40 | Bone development/growth and fracture repair | ECTS2014

NFI-C regulates osteoblast differentiation via control of osterix expression

Park Joo-Cheol , Lee Dong-Seol

In bone marrow, bone marrow stromal cells (BMSCs) have the capacity to differentiate into osteoblasts and adipocytes. Onset of osteoporosis with age stems in part from the enhanced bone marrow adipogenesis that represses osteogenesis. In this study, we demonstrate that disruption of nuclear factor I-C (NFI-C) impairs osteoblast differentiation and bone formation, and increases bone marrow adipocytes. Interestingly, NFI-C controls postnatal bone formation but does not influence...