ESPE Abstracts

Objective: Report 5 new variants of 7 KMT2D/KDM6A and summarize the clinical manifestations and the mutational spectrum of Kabuki syndrome (KS) by analyzing the reported Chinese cases.Methods: Blood samples were collected for whole-exome sequencing (WES) for 7 patients and their parents if available. Phenotypic and genotypic spectra of 39 previously published unrelated Chinese KS patients were summarized.<p ...

Objective: This study is to evaluate the association among plasma adropin, leptin, lipopolysaccharide-binding protein (LBP) levels and lipid characteristics in children with obesity.Methods: This was a cross-sectional study of children with obesity ranging from 5.5 to 12.5 years old, and age- and gender-matched children with normal weight were collected as control. Height, weight, waist circumference and hip circumference of all the participants were mea...

Objective: To investigate the co-relationship among glucolipid metabolism and inflammation, adipokines in obese and normal weight children.Methods: Children aged 5 to 15 year-old were collected. Fasting venous blood samples were collected to test liver function, triglyceride (TG), total cholesterol (TC), high density lipoprotein cholesterol (HDL), low-density lipoprotein cholesterol (LDL), fasting plasma glucose (FPG) and insulin. The inflammatory marker...