Searchable abstracts of presentations at key conferences on calcified tissues

Bone Abstracts

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ba0005p199 | Cell biology: osteoclasts and bone resorption | ECTS2016

Identification of G protein-coupled receptor 137B (GPR137b) function in mouse and zebrafish osteoclasts

Urso Katia , Caetano-Lopes Joana , Lee Pui , Henke Katrin , Sury Meera , Duryea Jeff , Nigrovic Peter , Aliprantis Antonios , Harris Matt , Charles Julia

Analysis of genome wide data such as transcriptomics can identify genes of potential interest to bone biology. These techniques are primarily hypothesis-generating. Determining the role of candidate factors in bone ultimately requires in vivo experiments. Gene expression analysis of mouse osteoclast differentiation identified G protein-coupled receptor 137B (GPR137b) as highly upregulated. GPR137b is an orphan seven-pass transmembrane receptor of unknown func...
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ba0007p51 | (1) | ICCBH2019

Higher dose of burosumab is needed for treatment of children with severe forms of X-linked hypophosphatemia

Zhukouskaya Volha V , Audrain Christelle , Lambert Anne-Sophie , Colao Annamaria , Kamenicky Peter , Adamsbaum Catherine , Nevoux Jerome , Chaussain Catherine , Wicart Philippe , Briot Karine , Di Rocco Federico , Trabado Severine , Prie Dominique , Rothenbuhler Anya , Linglart Agnes

Background and aim: Burosumab is a monoclonal antibody against anti-FGF23, which has been recently approved for treatment of X-linked hypophosphatemia (XLH). Beyond clinical trials, little is known about its efficacy/safety in clinical practice which is the aim of study.Patients/Methods: 39 children with XLH were switched from conventional therapy to burosumab (starting dose 0.4 mg/kg), because of following indications: non-responder to conventional ther...
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ba0007p99 | (1) | ICCBH2019

Pre and post-natal achondroplasia, retrospective series of 64 consecutives cases with analyze of the diagnostic methods and timing issues

Baujat Genevieve , Borghese Roxana , Sonigo Pascale , Bacrot Severine , Bengoa Joana , Michot Caroline , Millischer Anne-Elodie , Rondeau Sophie , Childs Beatrice , Attie-Bittach Tania , Bessieres Bettina , Salomon Laurent , Ville Yves , Bonnefont Jean-Paul , Steffann Julie , Cormier-Daire Valerie

The last years, diagnosis of achondroplasia benefited of the recent advances in prenatal imaging (including 3T-CD scan), and in invasive and non-invasive molecular screening.Objectives: To analyse stage/age, diagnosis procedures and outcome on a series of 64 consecutive cases of achondroplasia, in the French Centre of Reference for skeletal dysplasia, between 2008 and 2016.Methods: Confirmed achondroplasia were included in this sin...
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ba0005p128 | Cancer and bone: basic, translational and clinical | ECTS2016

The pharmacological profile of a novel highly potent bisphosphonate, OX14 (1-fluoro-2-(imidazo-[1,2 alpha]pyridin-3-yl)ethyl-bisphosphonate), with reduced bone affinity, which is as effective as zoledronate in the treatment of myeloma bone disease in JJN3-NOD/SCID-γ mice

Lawson Michelle , Chantry Andrew , Paton-Hough Julia , Evans Holly , Lath Darren , Tsoumpra Maria , Lundy Mark , Dobson Roy , Quijano Michael , Kwaasi Aaron , Dunford James , Duan Xuchen , Triffit James , Mazur Adam , Jeans Gwyn , Russell Graham , Ebetino Hal

Bisphosphonates are used in the treatment of a variety of diseases with skeletal complications. With the development of more potent compounds, there is the potential for further improvement. One concept is to use compounds with a reduced affinity for bone, reducing their long-term retention and possible adverse events, as well as potentially enhancing their non-skeletal benefits. We hypothesise that a highly potent bisphosphonate with low bone affinity, known as OX14, will be ...
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ba0001pp454 | Other diseases of bone and mineral metabolism | ECTS2013

Long bone fragility in NF1 is due to deficiency of architecture, micro-structure and matrix mineralization

Kuhnisch Jirko , Seto Jong , Lange Claudia , Schrof Susanne , Stumpp Sabine , Kobus Karolina , Grohmann Julia , Kossler Nadine , Varga Peter , Osswald Monika , Tinschert Sigrid , Seifert Wenke , el Khassawna Thaqif , Stevenson David , Elefteriou Florent , Kornak Uwe , Raum Kay , Fratzl Peter , Kolanczyk Mateusz , Mundlos Stefan

Neurofibromatosis type I (NF1) is a monogenetic disorder caused by mutations in the NF1 gene encoding for the Ras-GAP protein neurofibromin. Apart from benign tumour development NF1 is frequently associated with skeletal manifestations such as osteopenia or debilitating focal skeletal dysplasia. To assess a function of Nf1 in osteocytes we here apply a combinatorial approach of biophysical, histological and molecular techniques allowing differential analysis ...
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ba0006pl1 | (1) | ICCBH2017

Poster List

Poster No. Category Title Author P002 Bone development A 3-year longitudinal study of skeletal effects and growth in children after kidney transplantation <a href="ba...
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ba0004p132 | (1) | ICCBH2015

Bone structural characteristics and response to bisphosphonate treatment in children with Hajdu--Cheney syndrome

Sakka Sophia , RachelI Gafni , Clarke Bart , Rauch Frank , Hogler Wolfgang

Objectives: Hajdu–Cheney syndrome (HCS) is an ultra-rare, genetic bone disease caused by mutations in the NOTCH2 gene. HCS is characterised by dysmorphic features, acroosteolysis, and high turnover osteoporosis. Sparse evidence in adult HCS suggests increased BMD and reduced bone turnover during bisphosphonate (BP) therapy. A single paediatric case report indicated beneficial effects of i.v. pamidronate therapy. We present four paediatric patients with HCS, their...
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ba0003pp308 | Osteoporosis: treatment | ECTS2014

Association of gastrointestinal events and osteoporosis treatment initiation in newly diagnosed osteoporotic Israeli women

Yu Jingbo , Goldshtein Inbal , Ish-Shalom Sophia , Sharon Ofer , Modi Ankita

Objectives: To examine the association of gastrointestinal (GI) events and osteoporosis (OP) therapy initiation patterns among postmenopausal women following a diagnosis of OP from a large health plan in Israel.Methods: Women aged ≥55 years were included in the analysis if they had ≥1 OP diagnosis (ICD-9 733.0X) (date for first OP diagnosis was index date), no estrogen use, no diagnosis of Paget’s disease or malignant neoplasm. OP treatm...
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ba0006p031 | (1) | ICCBH2017

Valproic acid induces Fanconi syndrome and reversible hypophosphataemic rickets via upregulation of fibroblast growth factor 23

Saraff Vrinda , Padidela Raja , Mushtaq Talat , Sakka Sophia , Mughal Zulf , Hogler Wolfgang

Background: Valproic Acid (VPA) is a commonly used antiepileptic drug in the management of childhood epilepsy. Renal dysfunction presenting as Fanconi syndrome (FS) is a rare side effect of VPA use. This can lead to renal tubular phosphate loss, resulting in hypophosphataemic rickets, low bone mass and fractures. We report 6 children with VPA induced FS from three tertiary paediatric metabolic bone centres across England.Presenting problem: P1: Global de...
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ba0006p094 | (1) | ICCBH2017

Bone health assessment in children with thalassaemia major

Sakka Sophia , Crabtree Nicola , Kumar Aswath , Velangi Mark , Hogler Wolfgang , Shaw Nick J.

Objectives: Bone disease is a long-term complication in patients with thalassaemia and therefore current UK guidelines recommend biannual bone density assessment from the age of 10 years. The aim of this study was to evaluate bone health in children with thalassaemia major.Methods: Twenty-nine patients (11 boys) with a mean (S.D.) age of 13.07 year (2.29) with thalassaemia major had measurement of lumbar spine BMAD (L2-L4) and of total bod...
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Bone Abstracts
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