Searchable abstracts of presentations at key conferences on calcified tissues

ba0006lb4 | (1) | ICCBH2017

Serious adverse effects of denosumab in adolescents treated for giant cell tumour of the bone: osteonecrosis of the jaw and rebound hypercalcaemia with acute kidney injury

Uday Suma , Gaston Louie , Grimer Robert , Joffe Jonathan , Hoegler Wolfgang

Introduction: Giant cell tumour of the bone (GCTB) is a benign, locally aggressive tumour whose neoplastic stromal cells express receptor activator of nuclear factor kappa-B ligand (RANKL) and activate its receptor RANK on osteoclast-like giant cells. Denosumab (RANKL inhibitor) is an FDA/EMA approved treatment for GCTB in adults and ‘skeletally mature’ adolescents. Safety concerns include oversuppression of bone remodelling, with risk of osteonecrosis of the jaw [ON...

ba0007p62 | (1) | ICCBH2019

Tissue non-specific alkaline phosphatase activity and mineralization capacity of bi-allelic mutations from severe perinatal and asymptomatic hypophosphatasia phenotypes: Results from an in-vitro mutagenesis model

Uday Suma , Matsumara Tomohiro , Saraff Vrinda , Saito Shiho , Orimo Hideo , Hogler Wolfgang

Introduction: Hypophosphatasia (HPP) characterized by reduced mineralization occurs from mutations in the tissue non-specific alkaline phosphatase (ALPL) gene. Individuals harbouring bi-allelic mutations are generally reported to be severely affected. We report the findings of in vitro functional studies following site-directed mutagenesis in bi-allelic mutations causing extreme clinical phenotypes; severe perinatal and asymptomatic HPP.Objectiv...

ba0007p97 | (1) | ICCBH2019

Association of serum alkaline phosphatase with radiological rickets severity in children with X-linked hypophosphataemia on conventional therapy

Uday Suma , Shaw NJ , Mughal ZM , Randell Tabitha , Hogler Wolfgang , Santos Rui , Padidela Raja

Introduction: Conventional treatment of X-linked hypophosphataemic rickets (XLH) involves administration of oral phosphate and vitamin D analogues. An important treatment goal is to heal rickets which is assessed by normalisation of serum alkaline phosphatase (ALP) levels and resolution of radiological signs of rickets.Objectives: To determine the usefulness of serum ALP in assessing disease severity on wrist and knee radiographs as determined by rickets...

ba0007p98 | (1) | ICCBH2019

The effect of vitamin D on bone health assessed by radiogrammetry: a double-blind placebo-controlled vitamin D supplementation trial in infants

Uday Suma , Crowe Francesca , Bowie Jessica , Mughal Zulf , Manaseki-Holland Semira , Hogler Wolfgang

Introduction: The effect of vitamin D± calcium supplementation in children has traditionally been assessed using growth parameters, biochemical markers and radiographs.Objectives: To evaluate the utility of Bone Health Index (BHI), obtained using automated hand radiogrammetry, in assessing treatment effect in children participating in a vitamin D supplementation trial.Methods: In this double-blind placebo-controlled trial, Afg...

ba0004p169 | (1) | ICCBH2015

Comparison of the response to bisphosphonate treatment between acute lymphoblastic leukaemia and osteogenesis imperfecta type I

Kumaran Anitha , Uday Suma , Ginige Nimasari , Sakka Sophia , Saraff Vrinda , Sahota Jaskiran , Crabtree Nicola , Shaw Nick , Hogler Wolfgang

Background: Osteoporosis in children with osteogenesis imperfecta (OI) type 1 and acute lymphoblastic leukaemia (ALL) is characterised by high bone turnover. However the ability of spontaneous healing and reshaping of bone is retained in ALL even in the absence of bisphosphonate (BP) therapy, but impaired in OI.Aim: To compare the response to BP therapy in children with ALL and OI.Methods: Retrospective case note review of children...

ba0006p048 | (1) | ICCBH2017

A rare cause of rickets

Sakka Sophia , Uday Suma , Randell Tabitha , Davies Justin H , Arya Ved Bushan , Brain Caroline , Allgrove Jeremy , Hogler Wolfgang , Shaw Nick J

Background: The development of hypophosphataemic rickets in infants fed with the elemental formula (EF) Neocate® has been recently reported. We present seven cases of exclusively Neocate-fed babies who developed hypophosphataemic rickets.Presenting problem: Three patients (P1,3,4) had incidental findings of rickets on chest X-rays, two (P2,6) developed leg deformities and rickets was confirmed on X-rays, and two (P5,6) presented with femu...