Volume 82 | ESPE2014 | Next issue

ESPE 2014

Dublin, Ireland
18 Sep 2014 - 20 Sep 2014

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Dublin, Ireland; 18-20 September 2014. Further information

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Beta cells

hrp0082fc9.1 | Beta cells | ESPE2014

Inappropriately High Rates of Cell Proliferation in Diffuse Congenital Hyperinsulinism are Linked to Nuclear Expression of CDK6

Salisbury Rachel , Han Bing , Mohamed Zainaba , De Krijger Ronald , Gardner Laurienne , Gardner Julia , Cosgrove Karen , Padidela Raja , Newbould Melanie , Banerjee Indraneel , Hanley Neil , Dunne Mark

Background: Congenital hyperinsulinism of infancy (CHI) mainly arises from loss-of-function mutations in the KATP channel genes. As a consequence, insulin release is uncontrolled and causes persistent or recurrent episodes of hypoglycaemia in neonates. In patients with diffuse-CHI (CHI-D) increased rates of cell proliferation has been reported, but the causes of proliferation are unknown.Objective/Hypotheses: To assess the extent of cell proliferation an...

hrp0082fc9.2 | Beta cells | ESPE2014

Characterising the Immunohistochemical Expression of Dipeptidyl Peptidase-4 in Pancreatic Tissue from Patients with Diffuse and Focal Congenital Hyperinsulinism

Rahman Sofia , Sherif Maha , Tahir Sophia , Hussain Khalid

Background: Congenital hyperinsulinism (CHI) is the commonest cause of persistent hypoglycaemia and is due to the unregulated secretion of insulin from the pancreatic β-cells. The role of glucagon like peptide-1, gastric inhibitory polypeptide (GLP1/GIP), and dipeptidyl peptidase-4 (DPP4), is currently unknown in patients with CHI.Objective and Hypotheses: To understand the expression pattern of DPP4 in focal and diffuse disease CHI.<p class="ab...

hrp0082fc9.3 | Beta cells | ESPE2014

In Search for New Monogenic Diabetes Genes: PCBD1

Simaite Deimante , Kofent Julia , Gong Maolian , Ruschendorf Franz , Jia Shiqi , Arn Pamela , Bentler Kristi , Ellaway Carolyn , Kuhnen Peter , Hoffmann Georg , Blau Nenad , Spagnoli Francesca , Hubner Norbert , Raile Klemens

Background: Mutations in more than 20 genes are described to cause monogenic diabetes. Nevertheless, numerous families with diabetes of unknown ethology and suspected genetic defect have no molecular diagnosis. This not only impedes our understanding of disease mechanisms but also prevents from predicting the clinical course of the patients and applying the pathogenesis-oriented treatment.Objective: To identify novel gene(s), causing monogenic adolescent...

hrp0082fc9.4 | Beta cells | ESPE2014

Clinical Characteristics and Molecular Genetics Analysis of 20 Patients with Neonatal Diabetes Mellitus from a Single Centre of the South-Eastern Region of Turkey

Demirbilek Huseyin , Arya Ved Bhushan , Nuri Ozbek Mehmet , Houghton Jayne , Baran Riza Taner , Tekkes Selahattin , Mackay Deborah , Flanagan Sarah E , Ellard Sian , Hussain Khalid

Background: Neonatal diabetes mellitus (NDM), either transient (TNDM) or permanent (PNDM), is a rare form of monogenic diabetes, and usually presents in the first 6 months of life.Objective and Hypotheses: To describe the clinical characteristics and molecular genetics of a large Turkish cohort of NDM from a single centre.Method: NDM patients presenting to Diyarbakır Children State Hospital between 2010 and 2013 were prospecti...

hrp0082fc9.5 | Beta cells | ESPE2014

Transient Neonatal Diabetes in Adulthood: Metabolic and Neurodevelopmental Outcomes

Le Bourgeois Fleur , Busiah Kanetee , Abu-Amara-Olivieri Sawsan , Bachere Nadege , Bertrand Anne-Marie , Bourron Olivier , David Paul , De Boisvilliers Fabienne , Deumier Bernard , deVries Liat , Jelliman Stephanie , Le Tallec Claire , Martin-Dessila Amelie , Nimri Paul , Paoli Anne , Perrin Mireille , Stuckens Chantal , Ythier Hubert , Pouvreaux Nathalie , Bellane-Chantelot Christine

Background: Transient neonatal diabetes mellitus (TNDM) is a rare genetic β-cell dysfunction leading to hyperglycaemia that resolves in early childhood. About 80% of patients relapse during adolescence or adulthood. Some of these patients suffer from neurodevelopmental defect. Long-term outcome has been poorly investigated.Objective and Hypotheses: To investigate metabolic and neurologic outcomes in adults affected with TNDM.M...

hrp0082fc9.6 | Beta cells | ESPE2014

Sulfonylurea Therapy Corrects Hypotonia, Attention Deficits, Improves Complex Neuropsychological Functions and Motricity in Patients with Neonatal Diabetes Secondary to Mutation in Potassium Channel Subunits, Through a CNS Effect

Beltrand Jacques , Vaivre-Douvret Laurence , Busiah Kanetee , Fournier Emmanuel , Boddaert Nathalie , Vera Myriam , Bahi-Buisson Nadia , Bui-Quoc Emmanuel , Ingster-Moati Isabelle , Flechtner Isabelle , Simon Albane , Scharfmann Raphael , Cave Helene , Elie Caroline , Polak Michel

Background: Sulfonylurea therapy (SU) allows a better metabolic control than insulin in patients with neonatal diabetes secondary to mutation in potassium channel subunits (ND-K). Most of these patients have neurological and neuromotor developmental impairments whose changes under SU has not been studied in a systematic and prospective way in a large cohort.Objective and Hypotheses: To demonstrate the beneficial effect of SU on neuropsychological functio...