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57th Annual ESPE

Athens, Greece
27 Sep 2018 - 29 Sep 2018

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ESPE 2018 57th European Society for Paediatric Endocrinology Annual Meeting 27-29 September 2018 Athens, Greece

Free Communications

Diabetes and Insulin 1

hrp0089fc3.1 | Diabetes and Insulin 1 | ESPE2018

Neonatal Diabetes Owned to Potassium Channel Mutation: Response to Sulfonylureas According to the Genotype

Garcin Laure , Fauret Anne-Laure , Cave Helene , Polak Michel , Beltrand Jacques

Introduction / aim: Neonatal diabetes owned to potassium channel mutation can be successfully treated by sulfonylureas (SU). No study has reported SU efficiency according to the genotype.Method: Review of literature conducted in accordance with the control criteria of Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA). Search engine used: PubMed and the Cochrane Library database. Selection of clinical report, case reviews and met...

hrp0089fc3.2 | Diabetes and Insulin 1 | ESPE2018

Genome-Wide Meta-Analysis Identifies a Novel Low Frequency STK39 Variant of Large Effect on Risk of Type 1 Diabetes

Forgetta Vincenzo , Manousaki Despoina , Ross Stephanie , Tessier Marie-Catherine , Marchand Luc , Qu Hui-Qi , Bradfield Jonathan P , Grant Struan FA , Hakonarson Hakon , Paterson Andrew , Piccirillo Ciriaco , Polychronakos Constantin , Richards J Brent

Background: The genetic etiology of Type 1 Diabetes (T1D) is well recognized, with over 60 loci being identified to date, mainly through genome-wide association studies (GWAS). Most of these genetic associations involve common variants, while a sizable portion of the missing heritability of T1D could be attributed to unidentified rare single nucleotide polymorphisms (SNPs) (minor allele frequency (MAF) < 5%). The recent availability of large human whole genome sequencing d...

hrp0089fc3.3 | Diabetes and Insulin 1 | ESPE2018

Pediatric Patients with Type 1 Diabetes and Abnormal Nerve Conduction Studies Demonstrate Higher Neopterin Levels: Potential Role as a Biochemical Marker for Peripheral Neuropathy

Elbarbary Nancy , Ismail Eman Abdel Rahman , El- Hilaly Rana Ahmed , Ahmed Fatma Salama

Background: Electrophysiological techniques allowed identification of sub-clinical pathological changes and early diagnosis of diabetic peripheral neuropathy (PN). Neopterin is a marker of inflammation and cellular immune response that is elevated in conditions of T-cell or macrophages activation. Diabetic peripheral neuropathy (PN) is associated with inflammatory/immune processes and therefore, we hypothesized that neopterin could be used as a marker of neuropathy in type 1 d...

hrp0089fc3.4 | Diabetes and Insulin 1 | ESPE2018

Is the Glycaemic Response from Fat in Meals Dose Dependent in Children and Adolescents with T1DM on Intensive Insulin Therapy?

O'Connell Susan M. , O'Toole Norma , Cronin Conor , Saat Chen , McElduff Patrick , King Bruce , Smart Carmel E.

Background: Management of people with T1DM on intensive insulin therapy (IIT) uses algorithms based on the meal carbohydrate (CHO) content (MCC) to calculate prandial insulin dose. Typically, these calculations do not consider the meal content of fat or protein.Objective: To determine if the postprandial blood glucose (BG) response to varying fat content is dose dependent when standard insulin bolus is given based on MCC.Methods: R...

hrp0089fc3.5 | Diabetes and Insulin 1 | ESPE2018

Genotype and Phenotype Correlation in Syndromic Forms of Hyperinsulinaemic Hypoglycaemia – a 10-year follow-up Study in a Tertiary Centre

Dastamani Antonia , Kostopoulou Eirini , Clements Emma , Caiulo Silvana , Shanmugananda Prateek , Morgan Kate , Gilbert Clare , Dattani Mehul , Flanagan Sarah , Ellard Sian , Hurst Jane , Shah Pratik

Introduction: Hyperinsulinaemic Hypoglycaemia (HH) is one of the commonest causes of hypoglycaemia in infancy. It is characterised by hypoketotic, hypofattyacidaemic and hyperinsulinaemic hypoglycaemia. The molecular basis of HH includes defects in pathways that regulate insulin release; to date, 12 genes have been associated with monogenic forms of HH (ABCC8, KCNJ11, GLUD1, GCK, HADH1, UCP2, MCT1, HNF4A, HNF1A, HK1, PGM1, PMM2). However, no genetic aetiology has been...

hrp0089fc3.6 | Diabetes and Insulin 1 | ESPE2018

Using CRISPR/Cas9 Gene Editing to Study the Molecular Genetics of Congenital Hyperinsulinism

Purushothaman Preetha , Aldossary Ahmad , Guerrini Ileana , Hart Stephen , Hussain Khalid

Background: Congenital Hyperinsulinism(CHI) is characterized by the unregulated secretion of insulin in the presence of hypoglycaemia. The mutations in ABCC8 and KCNJ11, which encode the sulfonylurea receptor 1 (SUR1) and potassium inward-rectifying 6.2 (Kir6.2) subunits of ATP-sensitive potassium channel (K channel), are the most common identified cause of the condition. Defects in the HADH gene are responsible for SCHAD- HI, a rare form of the disease caused by the disruptio...