Searchable abstracts of presentations at key conferences on calcified tissues

ba0005p405 | Osteoporosis: treatment | ECTS2016

Lithium chloride enhances bone formation and implant osseointegration in osteoporotic condition

Jin Yifan , Zhang Hualin Zhang , Hu Xiaohui , Wu Gang , Dong Yiwen , Deng Zhennan , Huang Shengbin , Pathak Janak L , Liu Jinsong

Osteoporotic patients have poor bone quality and high risk of dental and orthopaedic implant failure. Lithium chloride (LICl) has been reported to enhance osteogenesis. However, the role of LiCl in bone formation and implant osseointegration in osteoporotic condition is still unknown. Therefore, we aimed to investigate the effect of LiCl on bone formation and implant osseointegration in osteoporotic rats.Three months old Sprague–Dawley female rats (...

ba0005p458 | Other diseases of bone and mineral metabolism | ECTS2016

Colony-stimulating factor 1 receptor a (Csf1ra)-deficient zebrafish as a model of unbalanced bone remodeling

Caetano-Lopes Joana , Urso Katia , Henke Katrin , Aliprantis Antonios O , Charles Julia F , Warman Matthew L , Harris Matthew P

Osteoclasts are multinucleated giant cells derived from the monocyte/macrophage lineage in the presence of receptor activator of nuclear factor kappa-B ligand (RANKL) and colony-stimulating factor 1 (CSF1). The bone remodeling process in zebrafish is incompletely understood. Here we describe several methods to quantify bone formation and resorption using a zebrafish mutant that lacks functional colony stimulating factor 1a receptor (csf1ramh5/mh5). Mice deficient in...

ba0006p038 | (1) | ICCBH2017

Hypophosphatasia associated with acute disseminated encephalomyelitis (ADEM): causal relationship or coincidence?

Jacobs Benjamin , Gall Angela , Peeva Daniela , Lacassagne Sandrine , Talwar Dinesh , Wakeling Emma L , Tenorio Jair , Mughal M Zulf

Background: Hypophosphatasia is generally regarded as a disease of bone and teeth. Lack of Tissue Non-Specific Alkaline Phosphatase (TNAP) leads to an accumulation of inorganic pyrophosphate and the Vitamin B6 metabolite pyridoxal 5′-phosphate (PLP), a reduction in pyridoxic acid (PA) and increased PLP/PA ratio. Vitamin B6 deficiency in the brain impairs synthesis of neurotransmitters, and is a well-recognised cause of neonatal seizures. We have found no previous reports...

ba0007p74 | (1) | ICCBH2019

Burosumab can improve pain and quality of life for children with X-linked hypophosphataemia and their families: a London centre's experience

Gilbey-Cross Robyn , Sandy Jessica L , Morris Mavali , Cocca Alessandra , Sakka Sophia D , Massey Jill , Cheung Moira S

Objectives: Burosumab, a monoclonal antibody that therapeutically targets the underlying elevated levels of fibroblast growth factor 23 (FGF23) in X-linked hypophosphatemia (XLH), is now available to children out of trial conditions. Our objective was to describe the effect of burosumab on quality of life, functionality and pain in a clinical setting.Methods: Questionnaire tools were completed at baseline, 6 and 9 months for 9 children with XLH starting ...

ba0007p145 | (1) | ICCBH2019

Nine-month follow-up data on biochemical, clinical, radiological and functional parameters in a clinical cohort of children at Evelina London Children's Hospital with X-linked hypophosphataemia treated with Burosumab

Sandy Jessica L , Gilbey-Cross Robyn , Santos Rui , Sakka Sophia D , Cocca Alessandra , Morris Mavali , Cheung Moira S

Burosumab, a monoclonal antibody targeting fibroblast growth factor 23, is now available for clinical use in children with X-linked hypophosphatemia (XLH). We aimed to explore the effects of burosumab in children with XLH in a clinical setting, considering: a) Biochemistry b) Growth c) Lower limb deformity (LLD) d) Radiology e) Motor function<p class="abstext"...

ba0001oc3.5 | Osteoporosis pathophysiology and genetics | ECTS2013

Genome-wide association identifies a new susceptibility locus at 4q35 associated with clinical vertebral fractures in post-menopausal women: the GEFOS-GENOMOS consortium

Alonso N , Estrada K , Herrera L , Kabir D , Olmos J M , Sanudo C , Riancho J A , Oei L , Medina-Gomez M C , Stenkjaer L , Bjerre L , Langdahl B , Brown M A , Duncan E L , Sims M , Kaptoge S , Reeve J , Lewis J , Prince R , Reppe S , Olstad O K , Gautvik K M , Garcia-Giralt N , Nogues X , Mencej-Bedrac S , Marc J , del Pino J , Gonzalez-Sarmiento R , Wolstein O , Eisman J , Feenstra B , Melbye M , Albagha O M E , WTCCC , Davies G , Starr J , Deary I , Quintela I , Fernandez C , Carracedo A , Lucas G , Elosua R , Uitterlinden A G , Rivadeneira F , Ralston S H

Vertebral fractures (VF) defined by morphometric analysis of spine radiographs are the most common complication of osteoporosis. Those that come to medical attention, with symptoms such as back pain and kyphosis are termed clinical vertebral fractures (CVF) and account for significant morbidity and mortality. Although much progress was made in identifying loci for bone mineral density, the genetic determinants of CVF remain unclear. Here we present the initial results from a g...

ba0001oc1.6 | Osteoporosis epidemiology and long term treatment complications | ECTS2013

Femur geometrical parameters in the pathogenesis of atypical femur fractures

Morin Suzanne N , Godbout Benoit , Wall Michelle , Belzile Etienne L , Michou Laetitia , Ste-Marie Louis-Georges , Karaplis Andrew C , de Guise Jacques A , Brown Jacques P

Background: Atypical femur fractures (AFF) arise in the subtrochanteric and diaphyseal regions. Because of this unique distribution, we hypothesized that patients with AFF demonstrate specific geometrical variations of their femur whereby baseline tensile forces applied to the lateral cortex are higher and might favor the appearance of these rare stress fractures, when exposed to bisphosphonates.Methods: Subjects who sustained AFF, as defined by the ASBM...

ba0001pp128 | Calciotropic and phosphotropic hormones and mineral metabolism | ECTS2013

Mass spectrometric immunoassay for intact parathyroid hormone: correlation with immunoassay and application to clinical samples

Couchman L , Taylor D , Krystans B , Lopez M , Prakash A , Sarracino D , Garces A , Vogelsang M , Peterman S , Vadali G , Robinson S , Moniz C

Introduction: Parathyroid hormone (PTH) measurement is of use in i) differential diagnosis of hypercalcaemia and ii) patients with renal impairment at risk of bone disease. PTH immunoassays are complicated by cross-reactivity with truncated (inactive) variant forms, which accumulate in patients with renal impairment. PTH assay variability is a critical governance issue in renal medicine, suggesting an MS-based reference method is required.Aim: To develop...

ba0001pp450 | Osteoporosis: treatment | ECTS2013

Transdermal delivery of BA058, a novel analog of hPTHrP (1-34), with a short wear time patch in preclinical and clinical studies

Hattersley Gary , Hansen Kris , Determan Amy , Brown Ken , Mckay Kate , Guerriero Jonathan , McCarthy Dan , Lyttle C Richard , St L O'Dea Louis

BA058 is being developed as an anabolic therapy for the treatment of osteoporosis. Daily BA058 SC injection has produced promising safety and efficacy results in early clinical studies, and is currently enrolling in a Phase 3 fracture prevention study. There is, however, a significant need for an alternative to injection that improves patient convenience and compliance. We have investigated the use of a solid Microstructured Transdermal System (3M) for transdermal (TD) deliver...

ba0002p70 | (1) | ICCBH2013

Isolated bilateral zeugo-autopodal segments agenesis of the lower limb: unusual malformation case report

Christiaens Antoine , Deprez Pierre M L , Mendola Antonella , Bernard Pierre , Gillerot Yves , Clapuyt Philippe , Lengele Benoit G , Vikkula Miikka , Nyssen-Behets Catherine

: Congenital limb abnormalities represent a prevalence of 0.79/1000 of live births in Massachusetts1. A better understanding of their physiopathology could improve the management of the patients. We report on a 23 weeks female fetus affected by an isolated bilateral terminal transverse defect of the lower limbs with nubbins. Both familial history and chromosomal analyses were irrelevant. We performed a deep morphological examination of the fetus in comparison with a...