ESPE Abstracts

ESPE Abstracts

Published by BioScientifica
Volume 82 | ESPE2014 | Next issue

53rd Annual ESPE (ESPE 2014)

Dublin, Ireland
18 Sep 2014 - 20 Sep 2014

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

Poster Presentations

Diabetes (1)

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Diabetes
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Diabetes (2)

hrp0082p1-d2-69 | Diabetes (1) | ESPE2014

Activation of Insulin/IGF1 Signaling Could Increase Hypothalamic Lipid Anabolism in Non-Diabetic IRS2-Deficient Mice

Barrios Vicente , Baquedano Eva , Canelles Sandra , Gonzalez-Rodriguez Agueda , Burgos-Ramos Emma , Chowen Julie A , Frago Laura M , Valverde Angela M , Argente Jesus

Background: Insulin/IGF1 signaling plays a critical role in central glucose bioavailability and lipid metabolism. An increase in glucose disposal can generate reducing agents through the pentose-phosphate pathway necessary for the synthesis of free fatty acids (FFA). Disturbances in lipid synthesis are related to the appearance of insulin resistance and diabetes. The insulin receptor substrate 2 (IRS2) deficient mice (IRS2−/−) is an excellent model to st...
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hrp0082p1-d2-70 | Diabetes (1) | ESPE2014

Evaluation of Subclinical Atherosclerosis by Non-Invasive Radiological Methods and its Relation with Endoglin and Nitric Oxide Levels

Emeksiz Hamdi Cihan , Bideci Aysun , Celik Nurullah , Yuce Ozge , Doger Esra , Damar Cagr , Boyunaga Oznur , Camurdan Orhun , Cinaz Peyami

Background: Endothelial dysfunction is thought to be a key event in the development of atherosclerosis. Demonstration of increased endoglin expression in atherosclerotic plaques suggested participation of endoglin in atherogenesis. Endoglin expression was also related to nitric oxide (NO) production in endothelium.Objective and hypotheses: Aim of the study was to evaluate the subclinical atherosclerosis in adolescents with type 1 diabetes mellitus (T1DM)...
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hrp0082p1-d2-71 | Diabetes (1) | ESPE2014

Identification of Novel Candidate Gene Variants for Mody by Whole Exome Sequencing in Korean Mody Families

Cho Un Mi , Shim Yae Ji , Choi Byung Ho , Ko Cheol Woo

Background: Maturity-onset diabetes of the young (MODY) is one of monogenic diabetes caused by a single gene defect. To date, 13 MODY genes have been identified. However, there is big discrepancy in genetic locus between the Asian MODY patients and Caucasian’s one.Objective and hypotheses: We conducted the whole exome sequencing in Korean clinical MODY families to identify novel variants for MODY and compare the result with Caucasian’s one....
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hrp0082p1-d2-72 | Diabetes (1) | ESPE2014

Abstract withdrawn....
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hrp0082p1-d2-73 | Diabetes (1) | ESPE2014

A Novel Mutation of wfs1 Gene in a Japanese Infant of Diabetes Mellitus, Deafness, and Congenital Cataract

Morikawa Shuntaro , Nakamura Akie , Ishizu Katsura , Kumaki Satoru , Tajima Toshihiro

Introduction: Wolfram syndrome (WS) is a rare autosomal recessive disorder characterized by the association of early-onset, insulin-dependent diabetes mellitus (DM), diabetes insipidus, deafness, and progressive optic atrophy. The disease is caused by mutations of wfs1 located on 4p16 encoding peptide that is called wolframin. Wolframin is a component of the endoplasmic reticulum (ER) membrane. It is considered that mutant Wolframin might cause increased misfolded and...
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hrp0082p1-d2-74 | Diabetes (1) | ESPE2014

Transient Hyperglycaemia Preceded by Neonatal Hyperinsulinaemic Hypoglycaemia in an Infant with a Novel HNF1A Mutation

Obermannova Barbora , Rozenkova Klara , Dusatkova Petra , Pruhova Stepanka , Sumnik Zdenek , Lebl Jan

Background: The phenotype associated with heterozygous HNF1A gene mutations has recently been extended to include neonatal hyperinsulinaemic hypoglycaemia (HH) in addition to maturity-onset diabetes of the young (HNF1A–MODY).Objective and hypotheses: The baby boy was born at 38th week of gestation; BW 4110 g; BL 53 cm (LGA). The mother had gestational diabetes; her father is treated for diabetes mellitus from the age of 50 years. The boy de...
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hrp0082p1-d2-75 | Diabetes (1) | ESPE2014

Lpl Gene Mutation and Polymorphism of Apoc2 and Apoc5 Genes in a Patient with Diabetes Mellitus Type 1

Nocon-Bohusz Julita , Wikiera Beata , Basiak Aleksander , Noczynska Anna

Background: The rise of TG in patients with ketoacidosis is connected with the impairment of lipoprotein lipase activity – the enzyme strictly dependent on insulin.Objective and hypotheses: The authors present a case report of 2.5 years old boy in whom diabetes manifestation was connected with severe metabolic disorders: ketoacidosis and extreme hyperlipidaemia.Method: The child without any significant medical history, admitte...
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hrp0082p1-d2-76 | Diabetes (1) | ESPE2014

Determinants of Serum Osteocalcin Concentrations in 12-Year-Old Children Born Small or Appropriate for Gestational Age

Tenhola Sirpa , Seppa Satu , Voutilainen Raimo

Background: Osteocalcin (OC) is an osteoblast derived marker of bone turnover, but it has also been linked to glucose metabolism. Specifically, the undercarboxylated form of OC has been proposed to act as a hormone that links bone to glucose homeostasis.Objective and hypotheses: Our aim was to study whether serum total OC associates with insulin sensitivity in 12-year-old children.Subjects and methods: A total of 192 children (109 ...
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hrp0082p1-d2-77 | Diabetes (1) | ESPE2014

Molecular Genetic Analysis of Maturity Onset Diabetes of the Young (Mody) Genes in Children by Using Targeted Next-Generation Sequencing

Anik Ahmet , Catli Gonul , Tuhan Hale Unver , Abaci Ayhan , Korkmaz Huseyin Anil , Ozkan Behzat , Sari Erkan , Yesilkaya Ediz , Altincik Ayca , Kizildag Sefa , Bober Ece

Background: MODY is an autosomal dominant inherited type of diabetes with significant genetic heterogeneity. To date, there are mutations in more than ten different genes that result in the MODY phenotype and new mutations causing MODY are still being found.Objective and hypotheses: In this study, we aimed to perform a molecular analysis of pediatric MODY patients by next-generation sequencing which enables the simultaneous analysis of multiple genes in ...
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hrp0082p1-d2-78 | Diabetes (1) | ESPE2014

Hormonal and Lipid Profile in Correlation with Anthropometric Measurements Among Offspring of Diabetic Mothers

Elbarbary Nancy , AboElAsrar Mohammed , El-Hadidy Eman , Maghrabi Marwa

Objective: This study was designed primarily to estimate whether there is an association between neonatal anthropometric parameters on one hand and cord blood levels of insulin, leptin, IGF1 and lipid profile on the other hand in offspring of diabetic mothers.Method: A total of 60 full term infants of diabetic mothers and 40 healthy infants of non-diabetic women participated in the study. Detailed anthropometric assessment of the newborn, head circumfere...
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hrp0082p1-d2-79 | Diabetes (1) | ESPE2014

Sequence Analysis of 11 Known Causative Genes in Clinically Diagnosed Children as Maturity Onset Diabetes of Youth by Next Generation Sequencing

Agladioglu Sebahat Yilmaz , Aycan Zehra , Cetinkaya Semra , Bas Veysel Nijat , Onder Asan , Kendirci Havva Nur Peltek , Dogan Haldun , Ceylaner Serdar

Introduction: Maturity-onset diabetes of the youth (MODY), is a genetically and clinically heterogeneous group of diseases in the pancreatic β–cell that impair insulin secreation. It mostly caused by heterozygous mutations in one of 11 different genes associated with β–cell function. The aim of this study is detection of the distribution of both known and novel point mutations of these genes in Turkish population.Pati...
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hrp0082p1-d2-80 | Diabetes (1) | ESPE2014

Methylmalonic Acidemia (MMA) with Unusual Presentation Mimicking Diabetic Ketoacidosis

Dejkhamron Prapai , Wejaphikul Karn , Katanyuwong Kamornwan , Unachak Kevalee , Wattanasirichaigoon Duangrurdee , Tanpaiboon Pranoot

Background: Hyperglycemic ketoacidosis is an acute, life threatening condition requiring early etiologic recognition and management to prevent serious morbidity/mortality. The most common cause is diabetic ketoacidosis (DKA). Organic acidaemias (OAs) are inheritable metabolic disorders caused by defects in protein metabolism resulting in acid accumulation. Patients with metabolic decompensation usually present with lactic and/or ketoacidosis, with/without hypoglycemia. Hypergl...
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