hrp0098p3-90 | Fat, Metabolism and Obesity | ESPE2024

Gene variants and clinical characteristics of children with sitosterolemia

Zou Chao-Chun , Gu Rui , Wang Hui , Wang Chun-Lin , Lu Mei , Miao Miao , Huang Mengna , Chen Yi , Dai Yangli , Zhu Mingqiang , Zhou Qiong

Objective: To enhance the detection, management and monitoring of Chinese children afflicted with sitosterolemia by examining the physical characteristics and genetic makeup of pediatric patients.Methods: In this group, 26 children were diagnosed with sitosterolemia, 24 of whom underwent genetic analysis. Patient family medical history, physical symptoms, tests for liver function, lipid levels, standard blood tests, phyt...

hrp0089p2-p113 | Diabetes & Insulin P2 | ESPE2018

Detection and Analysis of Glycometabolism Related Genes in Children Diabetes

Chen Lin QI , Wang Xiao Yan , Wu Hai Ying , Chen Ting , Chen Xiu Li , Sun Hui , Wang Feng Yun

Objective: To know more about the etiology and mechanism of antibody-negative diabetes, screening MODY pathogenicity genes and deepening understanding of islet autoantibody-negative diabetes, so as to individualized precision treatment.Methods: A total of 31 subjects with diabetes who had negative islet autoantibodies and C-peptide ≥0.3 ng/ml were collected. Another group was the type 1 diabetes control group, After informed consent obtained patien...

hrp0094p1-141 | Sex Endocrinology and Gonads B | ESPE2021

Screening of serum differential proteins in girls with rapidly progressing central precocious puberty with TMT quantitative proteomics

Xie Rongrong , Zhang Dandan , Wu Haiying , Wang Fengyun , Chen Xiuli , Chen Ting , Sun Hui , Wang Xiaoyan , Song Mengjia , Chen Linqi

Objective: To screen and identify serum differentially expressed proteins in girls with rapidly progressing central precocious puberty and healthy girls by proteomics. Methods: 15 idiopathic central precocious puberty girls and 15 healthy children were admitted to the Children’s Hospital of Suzhou University from August 2017 to October 2018.After mixing in the group, the high-abundance protein was removed and quantified ...