Endocrine Abstracts

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...

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 ...

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...

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 ...

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...

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...