Searchable abstracts of presentations at key conferences on calcified tissues

ba0007p196 | (1) | ICCBH2019

Sleep related problems in children with osteogenesis imperfecta

Murphy Kieran , Hill Claire , Barker Nicki , Kingshott Ruth

Osteogenesis Imperfecta (OI) is a genetic disorder affecting 1 in 10,000 births with a wide variability in phenotypes. Clinical Manifestations include; recurrent fractures, bone pain, varying degrees of short stature and deformity, scoliosis, kyphosis, and respiratory failure in the severest types. Sleep disorders are under-acknowledged and are often more problematic in children with chronic illnesses. Moldosky1 identified the link between pain affecting quality of ...

ba0001pp229 | Cell biology: osteoclasts and bone resorption | ECTS2013

The D477N mutation in OPTN leads to increased bone turnover and enhanced osteoclast formation in OptnD477N/D477N mice

Wani Sachin , Obaid Rami , Jones Ruth , Cohen Philip , Ralston Stuart , Albagha Omar

Recent GWAS have identified variants in the OPTN gene that predispose to Paget’s disease of Bone (PDB), a disease characterised by focal areas of increased bone turnover and enhanced osteoclast activity, suggesting a role for this gene in bone metabolism. The aim of this study was to investigate the role of OPTN in bone metabolism using a mouse model (OptnD477N/D477N) which harbours a D477N point mutation in the polyubiquitin binding ...

ba0001pp456 | Other diseases of bone and mineral metabolism | ECTS2013

Altered bone material properties in HLA-B27 rats, an animal model for arthritis, ankylosing spondylitis, and gastrointestinal inflammation

Gamsjaeger Sonja , Paschalis Eleftherios P. , Zoehrer Ruth , Klaushofer Klaus , Tatakis Dimitris N.

HLA-B27 transgenic rats, developed by inserting into rat genome the gene for HLA-B27, a human Class I major histocompatibility molecule involved in antigen presentation, spontaneously develop arthritis, ankylosing spondylitis, gastrointestinal inflammation, and severe alveolar bone loss, among other signs of a generalized inflammatory response. Clinical manifestations in these rats closely resemble features of HLA-B27–associated diseases in humans. More recently, investig...

ba0004p122 | (1) | ICCBH2015

Phalangeal microgeodic disease: A rare cause of painful swollen toes

Govindan Ranjith , Green Ruth , Dyankova-Peeva Daniela , Keen Richard , Jacobs Benjamin

A healthy 8-year-old girl of Nigerian origin, presented in January 2014 with a 2 month history of progressive pain and swelling of the right 2nd, 3rd and 4th toe. There was no preceding trauma or illness. Those toes were swollen, tender and cold to touch, with bluish skin discoloration (Figure 1).She had normal peripheral pulses. Her inflammatory markers were normal, as was haemoglobin electrophoresis. A Doppler ultrasoun...

ba0004p137 | (1) | ICCBH2015

A slow and difficult diagnosis of a child with chronic recurrent multifocal osteomyelitis

Guha Ananya , Brown Mathew , Green Ruth , Keen Richard , Calder Peter , Jacobs Benjamin

Background: Chronic recurrent multifocal osteomyelitis (CRMO) is an auto-inflammatory bone disorder that has been difficult to diagnose in the past. Diagnosis used to depend on bone biopsy but can now be made with whole-body MRI scan.Presenting problem: A 9-year-old healthy girl had a 2-year history of pain, swelling, redness and heat in her right foot following a fall from bars in the park. She had an X-ray of her foot on the day of injury which was rep...

ba0001pp61 | Bone development/growth and fracture repair | ECTS2013

Vascularisation and progenitor cells of primary and secondary ossification centres in the human growth plate

Walzer Sonja M , Cetin Erdal , Grubl-Barabas Ruth , Sulzbacher Irene , Ruger Beate , Girsch Werner , Windhager Reinhard , Fischer Michael B

The switch from a cartilage template to bone during endochondralossification of the growth plate requires dynamic and close interaction between the cartilage and the developing vascular structures. Vascular invasion of hypertrophic cartilage, with blood vessels coming from the bone collar, serves to bring in osteoblast- andendothelial precursor cells along with chondroclasts and their precursors into future ossification centres of the growth plate.Potent...

ba0001pp192 | Cell biology: osteoblasts and bone formation | ECTS2013

Moderate hypothermia induces growth arrest in normal human osteoblast cells but retained mitochondrial metabolism in vitro

Aisha Mohd Din , Nor-Ashikin Mohamed Noor Khan , Sharanizax Ab. Rahim , Nawawi Hapizah , Kapitonova Marina , Froemming Gabriele Ruth Anisah

Ablation of osteosarcoma cells by sublethal hypothermia before radiation may increase sarcoma tissue sensitivity by inducing growth arrest. Normal cells that are not lethally damaged by hypothermia and radiation can undergo DNA repair thus promoting cell survival. Nevertheless, understanding of the response of normal bone forming osteoblast cells towards hypothermia is necessary before administering on osteosarcoma cells. In this study we evaluated the response of short-term m...

ba0001pp193 | Cell biology: osteoblasts and bone formation | ECTS2013

Normal human osteoblast cells exerts an adaptive effect towards moderate hypothermia by retaining bone metabolism and cellular function in vitro

Aisha Mohd Din , Nor-Ashikin Mohamed Noor Khan , Sharaniza Ab. Rahim , Nawawi Hapizah , Kapitonova Marina , Froemming Gabriele Ruth Anisah

Over the years, it has been demonstrated that the ability to maintain body core temperature in older adult’s declines with age. Temperature is a vital physical factor for cell growth and a downshift in core body temperature (<37 °C) might have a direct affect on maintaining bone density or repair fractures. Disruption in any of the cellular processes involved in bone remodelling leads to a net loss of bone mineral density and bone loss. Therefore our study looked...

ba0001pp283 | Genetics | ECTS2013

Discovery and replication of several loci significantly associated with lean body mass: a large meta-analysis of genome wide association studies (GWAS) from the ‘charge’ and ‘gefos’ consortia

Kiel Douglas P , Yerges-Armstrong Laura M , Hsu Yi-Hsiang , Stolk Lisette , Karasik David , Loos Ruth J F , Gudnason Vilmundar , Smith Albert , O'Connell Jeffrey R , Fu Amish , Fu Mao , Streeten Elizabeth A , Cauley Jane A , Robbins John A , Psaty Bruce , Johnson Toby , Kutalik Zoltan , Mitchell Braxton D , Livshits Gregory , Harris Tamara B , Ohlsson Claes , Zillikens M Carola

Introduction: The creatine kinase (CK) is a dimeric enzyme, involved in energetical metabolism. It is present in many tissues, but higher concentration in skeletal and cardiac muscle.Therefore, conditions that involve muscle tissue may increase this serum enzyme. Such enzyme elevation is usually observed in inflammatory myopathies and others autoimmune diseases.Sometimes some elevation in CK is not fully understood out off these co...