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54th Annual ESPE

Barcelona, Spain
01 Oct 2015 - 03 Oct 2015

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Barcelona, Spain; 1-3 October 2015 Further information

hrp0084fc3.1 | Diabetes | ESPE2015

RNA-Based MAFA Over-Expression is Sufficient to Drive Human Pancreatic Duct-Derived Cells Toward a β-Cell-Like Phenotype

Corritore Elisa , Dugnani Erica , Pasquale Valentina , Piemonti Lorenzo , Vetere Amedeo , Bonner-Weir Susan , Sokal Etienne M , Lysy Philippe A

Background: Pancreatic epithelial cells represent an attractive cell source for replacement therapy of type 1 diabetes. Previously, we designed a protocol for expansion of human pancreatic duct-derived cells (HDDCs) and showed their β-cell engineering potential.Objective and hypotheses: In this study, we reprogrammed HDDCs into β-cell-like lineage by over-expressing mRNAs of key pancreatic transcription factors (TFs).Meth...

hrp0084fc3.2 | Diabetes | ESPE2015

Experience with Molecular Diagnosis in 48 Cases of Neonatal Diabetes Mellitus Using Targeted Next-Generation Sequencing

Tikhonvich Yulia , Vasilyev Evgeny , Petrov Vasily , Malievsky Oleg , Petryaikina Elena , Ribkina Irina , Stotikova Olga , Tiulpakov Anatoly

Background: Neonatal diabetes mellitus (NDM) comprises a group of monogenic disorders caused by mutations in genes involved in pancreatic development or insulin secretion. Accurate and rapid molecular diagnosis of NDM is pivotal for making decision on the treatment strategy. Next-generation sequencing (NGS) allows simultaneos analysis of several candidate genes, which facilitates the diagnostic procedure in NDM.Objective and hypotheses: To summarise our ...

hrp0084fc3.3 | Diabetes | ESPE2015

Clinical Characteristics and Molecular Genetic Analysis of Six Patients with Pancreas Aplasia and Neonatal Diabetes: Predominance of PTF1A-Enhancer Mutations

Raile Klemens , Gong Maolian , Spagnoli Francesca , Chen Wei , Hummel Oliver , Darendeliler Feiza , Bober Ece , Abaci Ayhan , Krill Winfried , Thiel Susanne , Kuhnen Peter , Hussain Khalid

Background: Pancreas aplasia (PA) and neonatal diabetes mellitus (NDM) syndrome is a rare disease that usually presents in the 1st months of life.Objective and hypotheses: We aimed to characterize molecular genetic defects in a cohort of six NDM/PA patients with up-to-date unknown pathogenesis with optimum genetic testing.Method: As part of our ESPE-RU-project ‘Understanding the molecular basis of diabetes mellitus associated ...

hrp0084fc3.4 | Diabetes | ESPE2015

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 , Heredia Miguel Lopez de , Nunes Virginia , Maffei Pietro , McCafferty Susan , Młynarski Wojciech , Parkinson Kay , Paquis-Flucklinger 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...

hrp0084fc3.5 | Diabetes | ESPE2015

C-Peptide Levels and Glycaemic Control in Children, Adolescents, and Young Adults with Type 1 Diabetes

Xatzipsalti Maria , Maravelia Vasiliki , Papadimitriou Eirini , Kitsiou Efrosini , Stamogiannou Lela , Delis Dimitris , Vazeou Andriani

Background: C-peptide, an indicator of own insulin production, is usually very low in patients with type 1 diabetes (T1D).Objective and hypotheses: The aim of the study was to evaluate C-peptide levels in children and adolescents and young adults with T1D and to correlate them with glycemic control.Method: Fasting C-peptide levels were measured with RIA, in 118 children, adolescents and young adults (60 females, mean age 13.3 <smal...

hrp0084fc3.6 | Diabetes | ESPE2015

First Report of Nationwide Incidence and Prevalence of Type 1 Diabetes Among Children in Turkey

Yesilkaya Ediz , Cinaz Peyami , Andiran Nesibe , Bideci Aysun , Hatun Sukru , Sari Erkan , Turker Turker , Akgul Ozgur , Saldir Mehmet , Kilicaslan Huseyin , Acikel Cengizhan , Craig Maria

Background: Data on the epidemiology of type 1 diabetes among children in Turkey are limited.Objective and hypotheses: The aim of this study was to report, for the first time, the incidence and prevalence of childhood type 1 diabetes in Turkey using a nationwide registry.Method: Information on birth date, city of birth, diagnosis date and gender of all type 1 diabetes patients aged less than 18 years were obtained from the Turkish ...