Searchable abstracts of presentations at key conferences on calcified tissues

ba0007p28 | (1) | ICCBH2019

Duchenne muscular dystrophy: preliminary results of the Risbo-DMD study

Broggi Francesca , Vai Silvia , Baranello Giovanni , Sansone Valeria Sansone , D'Angelo Grazia , Pane Marika , Vita Gianluca , Bianchi Maria Luisa

Introduction: Reduced bone mineral density [BMD] and increased fracture risk are common complications in all conditions characterized by severely reduced physical activity and/or requiring long-term glucocorticoid [GC] treatment, including Duchenne Muscular Dystrophy [DMD].Objectives: The RisBo-DMD study (EudraCT 2011-005745-12) is a 24-month prospective multicenter study, aimed at identifying DMD patients at higher risk of fractures and improving the bo...

ba0002p36 | (1) | ICCBH2013

Vitamin D deficiency and its relationship to parathyroid hormone in morbidly obese adolescents prior to bariatric surgery

Censani Marisa , Stein Emily , Shane Elizabeth , Oberfield Sharon , McMahon Donald , Lerner Shulamit , Fennoy Ilene

Objectives: Obese adults commonly have vitamin D deficiency and secondary hyperparathyroidism prior to bariatric surgery. Whether similar metabolic abnormalities exist in morbidly obese adolescents is not known. This study investigated the prevalence of vitamin D deficiency and evaluated the relationship between vitamin D and parathyroid hormone (PTH) in morbidly obese adolescents undergoing evaluation for bariatric surgery.Methods: A cross-sectional stu...

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 ...

ba0002oc12 | Biology | ICCBH2013

Improvement of collagen synthesis in fibroblasts of Brtl model for osteogenesis imperfecta following lentiviral-shRNA-mediated down-expression of mutant Col1a1 allele

Trichet Valerie , Rousseau Julie , Gioia Roberta , Layrolle Pierre , Heymann Dominique , Rossi Antonio , Marini Joan , Forlino Antonella

Objectives: The Brtl mouse, a unique model for the autosomal dominant forms of osteogenesis imperfecta was used to prove the feasibility of a lentiviral-shRNA-based strategy to improve collagen quality by targeting the mutant Col1a1 allele at the point mutation responsible for the causative substitution Gly349Cys. The ability to specifically suppress the mutant allele should convert the moderate Brtl outcome to the mild one caused by quantitative defect.<p class="...

ba0005oc6.5 | Development and differentiation (or Aging) | ECTS2016

Absence of cyclophilin A impairs endochondral bone formation by altering intracellular signaling pathways required for osteoblast maturation

Sargent Brandi , Ishikawa Masaki , Clevenger Charles , Yamada Yoshihiko , Cabral Wayne , Marini Joan

Using a CyPB-null mouse model, we previously demonstrated delayed folding, abnormal post-translational modification and altered crosslinking of type I collagen synthesized by osteoblasts. However, intracellular folding of collagen molecules was further delayed by CsA treatment of CyPB-null cells, suggesting involvement of additional PPIases in collagen folding. Since studies of CyPA functions in osteoblasts have not been reported, we investigated the role of this cytoplasmic P...

ba0005p434 | Other diseases of bone and mineral metabolism | ECTS2016

Cyclophilin B deficiency is associated with defective differentiation of bone cell populations and bone hypermineralization

Cabral Wayne , Fratzl-Zelman Nadja , Blouin Stephane , Roschger Paul , Klaushofer Klaus , Marini Joan

Deficiency of Cyclophilin B (CyPB) causes recessively inherited Type IX osteogenesis imperfecta, a moderately severe to lethal bone dysplasia. CyPB, encoded by PPIB, is an ER-resident peptidyl-prolyl cis-trans isomerase (PPIase) that catalyzes the rate-limiting step in collagen folding, and also functions as a component of the collagen prolyl 3-hydroxylation complex. We previously demonstrated in a Ppib−/− mouse model that CyPB PPIase activity r...

ba0001pp289 | Muscle, physical activity and bone | ECTS2013

The outcomes and costs of falls in elderly women

Tamulaityte-Morozoviene Inga , Alekna Vidmantas , Stukas Rimantas , Tamulaitiene Marija

Objective: To examine the outcomes and costs of direct medical care for falls in elderly women in Lithuania.Methods: Women aged 65 years and older, who visited National Osteoporosis Center for diagnostic or treatment procedures. Thereafter a telephone survey was performed using the questionnaire with 28 questions about the number, circumstances, and consequences of falls. The cost of health care due to fall was estimated after calculating the sum of cost...

ba0003pp228 | Osteoporosis: evaluation and imaging | ECTS2014

Changes of health-related quality of life 36 months after vertebral and distal forearm fracture: results from Icuros in Lithuania

Tamulaitiene Marija , Sinkeviciene Violeta , Kalibatiene Danute , Borgstrom Fredrik , Alekna Vidmantas

Objective: To evaluate the changes of health-related quality of life (HRQoL) 36 months after fracture in patients from Lithuania following vertebral or forearm fractures.Material and methods: Patients aged 50 years and older, with low energy trauma clinical vertebral fracture (VFx) or distal forearm fracture (FFx), enrolled and observed for 18 months in the International Costs and Utilities Related to Osteoporotic fractures Study (ICUROS) in Lithuania, w...

ba0005p36 | Bone biomechanics and quality | ECTS2016

Finite element analysis of osteoporotic lumbar vertebrae L1 under dynamic loading

Ardatov Oleg , Alekna Vidmantas , Maknickas Algirdas , Tamulaitiene Marija , Kacianauskas Rimantas

The present study introduces in silico analysis of osteoporotic lumbar vertebrae L1 due to dynamic compressive load.Objective: To define the reduction of load carrying capacity caused by various grades of osteoporosis.Materials and methods: The three-dimensional inhomogeneous continuum problem was formulated for simulation purposes. The L1 vertebra model consists of cortical shell, trabecular network and poste...

ba0005p268 | Muscle, physical activity and bone | ECTS2016

Association of frailty with vitamin D in elderly women

Alekna Vidmantas , Mastaviciute Asta , Kilaite Justina , Tamulaitiene Marija

Objective: To investigate the relationship of frailty with vitamin D in community dwelling elderly women.Materials and methods: A retrospective cross-sectional study was performed on women over 60 years who were not using vitamin D supplementations. Frailty status was defined using Fried’s criteria: weakness, low walking speed, low physical activity, weight loss, exhaustion. Participants were classified as robust, prefrail and frail if they scored 0...