Searchable abstracts of presentations at key conferences on calcified tissues

ba0004p113 | (1) | ICCBH2015

Comparison of cost benefits and efficacy of Zoledronic acid and Pamidronate in the treatment of osteogenesis imperfecta in children

Saraff Vrinda , Sahota Jaskiran , Crabtree Nicola , Shaw Nick , Hogler Wolfgang

Intravenous (IV) Pamidronate (PAM) has been used in the treatment of Osteogenesis Imperfecta (OI) and is known to increase bone mineral density (BMD) and reduce the incidence of fractures. However an attractive alternative is the more potent IV Zoledronic acid (ZOL).Objectives: To determine the clinical efficacy of IV PAM vs ZOL in children with mild to moderate OI and compare the cost benefits of the two drugs.Methods: A retrospec...

ba0007p31 | (1) | ICCBH2019

Determinants of survival in osteogenesis imperfecta (OI) Type II

Nadar Ruchi , Saraff Vrinda , Hogler Wolfgang , Desai Maya , Shaw Nick

Introduction: In 1979 Sillence described Type II OI as perinatal lethal. We report two children whose features were consistent with Type II OI who survived beyond infancy. Both have mutations previously reported in cases of lethal OI.Case 1: This girl was born full term, small for gestational age (SGA) following antenatal detection of short bowed femora. Skeletal survey showed multiple long bone fractures and a small chest with beaded ribs. A COL1A2 gene...

ba0007p66 | (1) | ICCBH2019

Bone densitometry and body composition in children with hypophosphatasia

Mciver William , Whittaker Lucy , Crabtree Nicola , Hogler Wolfgang , Saraff Vrinda

Hypophosphatasia (HPP) is a rare genetic disease characterised by low tissue-nonspecific alkaline phosphatase activity, causing defective mineralisation of bone and teeth. There is limited data on the measurement of bone mineral density (BMD) and body composition in these children.Objectives: To assess whether BMD and lean body mass (LBM) in treatment naïve children with HPP correlate with functional outcomes using the 6-minute walk test (6MWT)....

ba0007p208 | (1) | ICCBH2019

Motor developmental outcomes in 2 babies with very severe osteogenesis imperfecta (type II)

Sweeney Claire , O'Sullivan Lizzie , Sahota Jaskiran , Saraff Vrinda , Shaw Nick

Introduction: Although previously babies with genetic type II Osteogenesis Imperfecta (OI) would not have expected to survive, they are now surviving beyond the neonatal period. We describe two such children who have survived beyond infancy.Aim & methods: To identify differences in motor developmental progress between a typical severe (type III) OI child vs two Type II OI children and suggest possible causes. Medical, nursing and therapy (physiothera...

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...

ba0006p085 | (1) | ICCBH2017

Cumulative radiation exposure from diagnostic imaging and associated lifetime cancer risk in children with Osteogenesis Imperfecta

Thorby-Lister Amy , Hogler Wolfgang , Hodgson Kirsten , Crabtree Nicola , Shaw Nick , Saraff Vrinda

Background and objectives: Fracture rate in Osteogenesis Imperfecta (OI) is highest between 0 and 19 years, and associated radiation exposure also carries the highest lifetime cancer risk. Here, we investigate the cumulative effective radiation dose (E) and lifetime cancer risk from diagnostic imaging in OI children. We also explore the hypothesis that negative family history of OI will increase injury-related, fracture-negative X-rays due to parental anxiety.<p class="abs...

ba0006p204 | (1) | ICCBH2017

Is a modified version of the Childhood Health Assessment Questionnaire (CHAQ) a useful tool to identify the level of disability in children with osteogenesis imperfecta?

Ball Suzanne , Roberts Marie , Saraff Vrinda , Sakka Sophia , Shaw Nick , Hogler Wolfgang

Objectives: Different versions of the Childhood Health Questionnaire (CHAQ) have been used in Paediatric Rheumatology since 1994 to establish levels of functional disability. To date, use of the CHAQ has not been reported in Osteogenesis Imperfecta (OI). The aim of this study was to establish if disability scores generated from a modified CHAQ (MCHAQ) correlate with OI severity.Methods: The MCHAQ was developed to reflect the specific needs of children wi...

ba0007p32 | (1) | ICCBH2019

Successful use of oral acetazolamide in symptomatic subcutaneous calcifications in hyperphosphatemic tumoral calcinosis

Nadar Ruchi , Saraff Vrinda , Randell Tabitha , Ryan Fiona , Shaw Nick , Hogler Wolfgang

Introduction: Hyperphosphatemic familial tumoral calcinosis is a rare genetic disorder causing reduced FGF23 activity. Recurrent and occasionally disabling subcutaneous calcifications are major disease manifestations. We describe the successful use of acetazolamide in two cases presenting in childhood with a homozygous GALNT3 mutation.Case 1: A five year old girl developed tender subcutaneous calcifications in the right elbow which were surgically resect...

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...

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...