hrp0086p2-p797 | Pituitary and Neuroendocrinology P2 | ESPE2016

Report Two Cases of Dopa-Responsive Dystonia

Zhuannan Jiang , Liyang Liang , Zhe Meng , Lina Zhang , Lele Hou

Background: Dopa-responsive dystonia is a genetic disease that rarely reported in domestic and foreign. Its clinical characteristics is so complex and diverse that it is easy to lead to misdiagnosis and delayed treatment. However, early diagnosis and timely and appropriate treatment can completely improve symptoms. Fortunately, now we can take advantage of gene sequencing to diagnose this rare disease.Objective and hypotheses: Understand the research pro...

hrp0092p2-68 | Diabetes and Insulin | ESPE2019

Pancreatic β Cell Function and its Relationship with Iron Overload in Patients with β-Thalassemia Major

Zhang Lina , Liang Liyang , Jiang Zhuannan , Meng Zhe , Ou Hui , Liu Zulin , Hou Lele , Haung Siqi

Objective: The functional status and influencing factors of pancreatic beta cells in patients with β-thalassemia major (β-TM) were investigated.Methods: A cross-sectional study was conducted in 88 patients with β-TM, with an average age of 11.3±5.6 years. Thirty-two healthy subjects were selected as the control group. FBG, FINS, HOMA-IRI, HMOA-ISIand HOMA-β FI were calculated between ...

hrp0089p2-p006 | Adrenals and HPA Axis P2 | ESPE2018

Analysis of Phenotypes and Genotypes in 84 Patients with 21-hydroxylase Deficiency

Hou Lele , Lin Shaofen , Meng Zhe , Ou Hui , Liu Zulin , Zhang Lina , Jiang Zhuannan , Liang Liyang

Background and Aims: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterized by impaired cortisol synthesis. 21-hydroxylase deficiency (21-OHD) caused by mutations in CYP21A2 gene is the most common form of CAH. This study aims to analyze the phenotype-genotype correlation and the characteristics of gene mutation frequency of 21-OHD patients in China, helping to provide evidence for clinical practice and genetic counseling of 21-OHD patie...

hrp0089p3-p144 | Fat, Metabolism and Obesity P3 | ESPE2018

Serum Uric Acid and Its Correlation with Metabolic Syndrome Factors in Simple Obesity Children

Liu Zulin , Liang Liyang , Meng Zhe , Hou Lele , Zhang Lina , Jiang Zhuannan

Objective: To study the relationship between serum uric acid (SUA) and metabolic syndrome (MS) factors in simple obesity children.Methods: Data of 70 simple obesity children (50 boys and 20 girls, ages 10.50±3.44) and 30 age- and sex-matched children (17 boys and 13 girls, ages 9.96±2.48) with normal body mass index (BMI) were studied. Anthropometrics, SUA, lipid profiles, glucose and insulin concentration were determined. The differences of pa...

hrp0092p1-182 | Diabetes and Insulin (1) | ESPE2019

The Influence of Excess Iron on Pancreatic Beta Cells

Zhang Lina , Hou Lele , Liu Zulin , Li Pinggan , Huang Siqi , Meng Zhe , Ou Hui , Jiang Zhuannan , Liang Liyang

Objective: To establish INS-1 cell iron overload model, and study the effect on iron overload, proliferation, insulin secretion, mitochondria defect and oxidative stress change.Methods: INS-1 cells were cultured with different concentrations (0 as control and 5, 10, 20, 40, 80,160,320µmol/L respectively) of ferric ammonium citrate (FAC). Labile iron pool (LIP) were calculated by detecting calcein-AM fluorescence ...