hrp0095p2-184 | Growth and Syndromes | ESPE2022

Clinical characteristics and genetic analysis of BLM gene mutation with Bloom syndrome without facial erythema changes

Huang Hui , Yang Yu , Shuai Xia , Xiong Xiangyu , Chen Ka

Objective: To retrospectively analyze the clinical data, laboratory examination, gene test results, diagnosis and treatment of a case of small gestational age, short stature and microcephaly in the department of Endocrinology, Genetics and Metabolism of Jiangxi Children's Hospital.Methods: The detailed clinical symptoms and family history of the children and their families were evaluated. 2ml peripheral blood of the...

hrp0097rfc3.5 | Fat, metabolism and obesity 1 | ESPE2023

Multi-omics Reveals molecule target Underlying Adolescent obesity with metabolic syndrome

Yang Yu , Huang Hui , Yang Li , Xie Liling , Zhang Dongguang , Xu Lei , Chen Ka , Shuai Xia , Xiong Xiangyu

Objective: The onset of obesity complicated with metabolic syndrome in children and adolescents is hidden, the mechanism is unknown, and early warning indicators are lacking clinically. This study conducted multi-omics research on children and adolescents with simple obesity and obesity complicated with metabolic syndrome to provide early clinical diagnosis and drug treatment targets for its occurrence and development mechanism.M...