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43rd Meeting of the British Society for Paediatric Endocrinology and Diabetes


Oral Communications 7

ea0039oc7.1 | Oral Communications 7 | BSPED2015

Wolfram syndrome: natural history and genotype-phenotype correlation based on EURO-WABB registry show gender differences in disease severity

Dias Renuka , Richens Caitlin , Astuti Dewi , Nightingale Peter , Ayme Segolene , Lopez de Heredia Miguel , Maffei Pietro , McCafferty Susan , Mlynarski Wojciech , Nunes Virginia , Parkinson Kay , Paquis-Flucklinge Veronique , Rohayem Julia , Sinnott Richard , Tillmann Vallo , Tranebjaerg Lisbeth , Barrett Timothy

Background: Wolfram syndrome (WS) is a rare autosomal recessive disorder, characterised by early-onset diabetes and optic atrophy. It is caused by mutations in WFS1.Objective and hypotheses: This study aimed to comprehensively review the natural history of WS in a large cohort of patients from the EURO-WABB registry.Method: Data from EURO-WABB patients with WS was analysed in conjunction with the Leiden Open Variation Data...

ea0039oc7.2 | Oral Communications 7 | BSPED2015

Insulin and glucose profiles following an oral glucose tolerance test in patients with cystic fibrosis and classification tree modelling of insulin:glucose profiles as a tool to predict changes in lung function

Nicholson Simon , Aldag Ina , West Noreen , Wright Neil

Introduction: Individuals with cystic fibrosis (CF) frequently exhibit altered insulin and glucose metabolism and many develop cystic fibrosis related diabetes (CFRD). Lung function is influenced by glucose metabolism with changes in glucose metabolism resulting in deterioration in lung function. Recommendations suggest CF patients should have an OGTT annually to screen for the development of CFRD. We examined the OGTT profiles to ascertain whether simpler fasting measures of ...

ea0039oc7.3 | Oral Communications 7 | BSPED2015

Safety and efficacy of atorvastatin treatment in children with familial hypercholesterolaemia

Davis Nikki , Kerr Stephanie

Introduction: Familial hypercholesterolaemia (FH) has a gene frequency of at least 1/500 with >80% those affected remaining unidentified. Affected individuals have elevated LDL levels from birth which is a major cause of treatable premature coronary artery disease. NICE guidance recommends statin treatment from the age of 10 yrs for children with a confirmed diagnosis of FH. We were the first centre in England to have commissioned contact tracing and cascade testing to con...

ea0039oc7.4 | Oral Communications 7 | BSPED2015

The cost-effectiveness of the KIds in control of food structured education programme for adolescents with type 1 diabetes

Basirir Hasan , Brennan Alan , Jacques Richard , Pollard Daniel , Stevens Katherine , Freeman Jennifer , Wales Jeremy , Price Katherine

Objectives: Kids in control of food (KICK-OFF) is a 5-day structured education programme for 11–16 year olds with type 1 diabetes who use multiple daily insulin injections. This study evaluates whether KICk-OFF would be considered a cost effective use of NHS resources by decision makers in the UK.Methods: A cost effectiveness analysis comparing KICk-OFF to usual care was conducted. Data from the KICk-OFF trial were extrapolated to simulate lifetime ...

ea0039oc7.5 | Oral Communications 7 | BSPED2015

Investigating the impact of post-translational modification of Type 1 diabetes auto-antigens by tissue transglutaminase.

Donnelly Catherine , Williams Alistair

Background: Post-translational modification (PTM) of antigens has been shown to play a role in the pathogenesis of autoimmune disorders. In coeliac disease (CD), tissue transglutaminase (tTG) deamidates gliadin peptides to activate the immune response against gut endomysium. CD is six times more prevalent in Type 1 diabetes (T1D) patients than in the general population.Hypothesis: tTG also modifies auto-antigens implicated in the pathogenesis of T1D, lea...

ea0039oc7.6 | Oral Communications 7 | BSPED2015

The evolving phenotype of transient neonatal diabetes 1: findings from the international register

Lokulo-Sodipe Kemi , James Rowena S , Zalkapli N N , Docherty Louise E , Davies Justin H , Mackay Deborah J G , Temple I Karen

Introduction: Transient neonatal diabetes 1 (TNDM1) has an estimated incidence of 1 in 400 000 and is characterised by intra-uterine growth retardation and diabetes presenting soon after birth. Spontaneous remission of diabetes usually occurs within the first year of life. TNDM1 is caused by overexpression of imprinted genes at chromosome 6q24. Three causes have been described: paternal uniparental disomy for chromosome 6; paternally inherited duplication of 6q24; and maternal...