ESPE Abstracts

Objective: To explore the clinical and molecular genetic characteristics of congenital lipoid adrenal hyperplasia (CLAH), and to sequence the acute regulatory protein (steroid acute regulatory, StAR) gene of the infant patient and her pedigree.Methods: Physical examination, laboratory tests, and imaging examination of the 1-month- old patient with CLAH were collected. DNA was extracted from blood samples of the patient a...

Background: Type 1 diabetes (T1D) is an autoimmune disease (AID) whose primary features include progressive pancreatic β cell damage and absolute insufficient endogenous insulin secretion. Recent studies have shown that a Th1/Th2 cell subset unbalance and excessively activated B lymphocytes are important pathogenic mechanisms.Objective and hypotheses: To investigate the protective effects of Adenovirus-mediated IL-10 gene and anti-CD20 monoclonal an...

Introduction: To investigate the protective effects of combined intervention with adenovirus vector mediated interleukin 10 (IL10) and IGF1 genes on islet β cells in nonobese diabetes (NOD) mice with type 1 diabetes mellitus (T1D) at early stage.Methods: Twenty-four female NOD mice at onset of diabetes and aged 17–20 weeks old were randomly divided into four groups. Mouse 1, 2, and 3 groups were i.p. injected 0.1 ml of Ad-mIGF1, Ad-mIL10, and c...

Background: 3-Ketothiolase deficiency (3KTD) is an inherited error of metabolism affecting isoleucine catabolism and ketone body utilization. This disorder is clinically characterized by intermittent ketoacidotic episodes with no clinical symptoms.Objective and hypotheses: To research the gene mutation of 3 acetoacetyl-CoA thiolase in non-diabetic ketoacidosis and provide a basis for diagnosis of 3KTD.To reveal the role of 3 acetoacetyl-CoA thiolase in i...

Background: Notch1 – Delta-like ligand 4 (Dll4) signaling pathway has a biological effect of negative feedback regulation to VEGF in retinal vascular development process. There are few studies on the inhibition of Notch1-Dll4 signaling pathway in ROP and the regulatory pathway of VEGF.Objective and hypotheses: 67-day-old mice were divided into oxygen-induced retinopathy group and control group. We took ten mice from each group at postnatal day 7 (p7...

Background: Notch1-Delta-like ligand 4 (Dll4) signalling pathway has a biological effect of negative feedback regulation to VEGF in retinal vascular development process. There are few studies on the inhibition of Notch1-Dll4 signalling pathway in ROP and the regulatory pathway of VEGF.Objective and hypotheses: To investigate the role that Notch1-DLL4 signal pathway played in the oxygen-induced retinal neovascularization of mice by analyzing the expressio...

Key words: Type 1 diabetes mellitus; Intestinal flora; metagenomic sequencing; cytokines; AutoimmunityObjective: This study aims to verify the effect of intestinal microbiota diversity on the disease development of T1DM mice model, and to explore the mechanism of intestinal microbiota in the development of type 1 diabetes mediated by related cytokines.Method: T1DM mouse model was e...

Introduction: Treatment with recombinant human growth hormone (rhGH) is useful for growth failure in short stature children. But there are some reports of renal disease or complication occurring during rhGH treatment. GH and insulin-like growth factor-1 (IGF-1), together with other growth factors and cytokines, have important roles in adaptive morphological and functional changes in the kidney. This study was aimed to reveal the renal complication of hematuria...

Introduction: Hyperinsulinism–Hyperammonemia (HI/HA) syndrome is a rare autosomal disease characterized by episodes of hypoglycemia related to consumption of high-protein containing foods or fasting with associated hyperammonemia secondary to an activating mutation in the GLUD1 gene. It often remains unrecognized until later in childhood because symptomatic episodes can be misinterpreted as epilepsy if patterns of hypoglycemia with fasting and protein-rich meals are not i...

Aim: The most common cause of persistent hypoglycemia and related brain damage in infancy is congenital hyperinsulinism (CHI), due to inappropriate secretion of insülin by pancreatic βcells. The most frequent and most serious mutations are activating mutations in ABBC8 or KCNJ11 genes. Genetic analyses, which might predict the type of lesion, performed in early period and 18f dopa pet scanning are very valuable for treatment choice and follow-up of the patients. In t...