Searchable abstracts of presentations at key conferences on calcified tissues

ba0001pp409 | Osteoporosis: treatment | ECTS2013

25-OH vitamin D and γ-δ TCR lymphocyte interplay in the pathogenesis of acute phase reaction after zoledronic acid infusion for osteoporosis treatment

Crotti Chiara , Cavaciocchi Francesca , De Santis Maria , Ceribelli Angela , Fabbriciani Gianluigi , Selmi Carlo

Background: Zoledronic acid (ZA) for the treatment of osteoporosis (OP) is associated with a transient post-infusional acute phase reaction (APR) due to ZA-mediated activation of γ-δ TCR lymphocytes (γ-δTCR) and production of cytokines.Primary objective: To investigate if OP patients developing APR (APR+) after ZA infusion have lower 25-OH vitamin D (25-OHvD) levels and a higher percentage of γ-δTCR compared to patients with...

ba0007p75 | (1) | ICCBH2019

Active vitamin D analogues and oral phosphate for the treatment of X-linked hypophosphataemia in paediatric patients: A systematic literature review and survey of expert opinion on current needs

Ariceta Gema , Collantes Carmen de Lucas , Jandhyala Ravi , Mughal Zulf

Objectives: X-linked hypophosphataemia (XLH) is a rare, inherited, genetic disease characterised by renal phosphate wasting, bone mineralisation defects, rickets, abnormal tooth development, poor growth and, often, bone pain. Common treatment of children involves supplementation with oral phosphate and active vitamin D (often termed ‘conventional therapy’). The objective of this study was to identify and understand the perceived limitations of conventional therapy fo...

ba0006p041 | (1) | ICCBH2017

A randomised double-blind placebo-controlled trial of vitamin D supplementation in juvenile-onset systemic lupus erythematosus: positive effect on trabecular microarchitecture using high resolution peripheral quantitative computed tomography

Paupitz Juliane , Lima Glauce , Aikawa Nadia , Alvarenga Jackeline , Pereira Rosa

Objectives: Vitamin D has an important effect on bone but there are no trials that directly address the boosting of serum levels of 25-hydroxyvitamin D (25OHD) in bone microarchitecture in Juvenile-onset Systemic Lupus patients (JoSLE). The aim of this study was to evaluate the effect of vitamin D supplementation on bone microarchitecture parameters using HR-pQCT in JoSLE patients.Methods: This study was a randomized double-blind placebo-controlled 24-we...

ba0006p065 | (1) | ICCBH2017

A novel form of congenital rickets due to a recurrent gain of function mutation in CYP3A4

Rodda Christine P , Levine Michael A , Roizen Jeffrey D , Javaid Muhammad K , Ebeling Peter R , Nguyen Hanh , Dewez Peter , Shaw Nicholas J

Although Vitamin D deficiency is the most common form of rickets worldwide, when there is a failure to respond to cholecalciferol, inborn errors of vitamin D metabolism should be considered. We describe two unrelated individuals who presented with early onset rickets characterised by reduced serum levels of 25(OH)D and 1,25(OH)2D, and a deficient response to Vitamin D2/D3 and calcitriol. Case 1: A Caucasian Australian girl with non-consanguineous parents ...

ba0004p128 | (1) | ICCBH2015

Patients treated with anti-epileptic drugs have a higher rate of fracture and impaired bone and muscle development compared with controls: results from a pilot study

Simm Peter J , Seah Sebastian , Mackay Mark , Freeman Jeremy , Petty Sandra J , Wark John D

Epilepsy is a relatively common condition of childhood, with anti-epileptic drugs (AEDs) the mainstay of medical therapy. AED use in adults has been shown to be associated with impaired bone density and increased risk of bone fracture. Paediatric data are more limited particularly in relation to fracture risk and skeletal geometry.This study aimed to examine the within-pair differences in fracture prevalence and bone, muscle and balance parameters in sex...

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"...

ba0003pp331 | Osteoporosis: treatment | ECTS2014

Prevalence of osteoporosis treatment depending on the risk evaluation of the osteoporotic fractures in patients with rheumatoid arthritis in Russia

Dydykina Irina , Vetkova Elizaveta , Podvorotova Marina , Taskina E , Smirnov A , Sinenko A , Ruskina T , Peshekhonov D , Myasoedova S , Zavodovski B , Dydykina P , Petrova E , Zhigulin V , Alekseeva L , Nasonov E

Background: It is known that one of the features of rheumatoid arthritis (RA) is a generalized bone loss, therefore important tasks for the physician are timely evaluating of the risk of fractures and approving osteoporosis treatment in patients with RA.Objectives: Through the Programme of the Russian Association of Rheumatology for the diagnosis, prevention and treatment osteoporosis (OP) in patients with RA we evaluated the 10 year probability of major...

ba0003pp388 | Other diseases of bone and mineral metabolism | ECTS2014

Late onset presentation of osteogenesis imperfecta with additional mutation on GNAS gene: case report

Stathopoulos Konstantinos D , Koromila Theodora , Paschalis Eleftherios P , Soultanis Konstantinos , Atsali Erato , Bournazos Ilias , Damianou Eirini , Zoubos Aristides B , Papaggelopoulos Panagiotis J , Skarantavos Grigoris

Aim: We present the case of a 36y female patient with multiple fragility fractures after the age of 21 and mutations in COL1A1, COL1A2 and GNAS genes.Material and methods: A 36y female patient with multiple fractures of the axial and appendicular skeleton was referred to us for consultation. The patient was born with hexadactyly of the left foot and had a history of mild thoracolumbar scoliosis (10°) and medium height (165 cm) with no other history ...