hrp0089p1-p097 | Fat, Metabolism and Obesity P1 | ESPE2018

Circulating Exosomal miRNAs Involved in the Pathogenesis of Children Nonalcoholic Steatohepatitis

Zhou Xuelian , Fu Junfen , Dong Guanping , Huang Ke , Wu Wei

Circulating Exosomal miRNAs involved in the Pathogenesis of Children Nonalcoholic Steatohepatitis.Background: The incidence of children non-alcoholic fatty liver disease (NAFLD) increased rapidly paralleled with the global burden of obesity and diabetes. Although most patients are nonalcoholic fatty liver, there are still a small part of them will progress to nonalcoholic steatohepatitis (NASH), fibrosis and cirrhosis. However, the diagnosis of NASH is b...

hrp0092rfc4.2 | Fat Metabolism and Obesity Session | ESPE2019

Circulating Exosomal miRNAs in Children's Nonalcoholic Steatohepatitis and the Correlation with Serum Transaminase and Uric Acid

Zhou Xuelian , Huang Ke , Ni Yan , Yuan Jinna , Liang Xinyi , Lin Hu , Dong Guanping , Fu Junfen

Background: The incidence of non-alcoholic fatty liver disease (NAFLD) in children increased rapidly paralleled with the global burden of obesity and diabetes. Although most patients are nonalcoholic fatty liver (NAFL), once progress to nonalcoholic steatohepatitis (NASH), the risk of liver fibrosis and cirrhosis increase significantly. However, the pathogenesis of NAFLD, especially how NAFL progress to NASH is still unclear. Exosomal miRNAs have attracted att...

hrp0092p2-29 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Clinical and Genetic Characteristics of Pseudohypoparathyroidism Type 1A in Children Based on Single-center Cohort Study

Zhou Xuelian , Wu Wei , Huang Ke , Dong Guanping , Yuan Jinna , Liang Xinyi , Zhu Mingqiang , Fu Junfen

Background: Pseudohypoparathyroidism 1A (PHP1A) is a rare disease caused by mutations of GNAS gene, and characterized by Albright's hereditary osteodystrophy (AHO) and resistance to multiple hormones. Infantile onset is often missing diagnosed due to atypical clinical manifestations. This study aims to summarize the clinical and genetic characteristics of child onset PHP1A patients.Methods: 12 patients were ...

hrp0089fc2.4 | Bone, Growth Plate & Mineral Metabolism 1 | ESPE2018

Diagnostic Performance of Artificial Neural Network-based TW3 Skeletal Maturity Assessment

Zhou Xuelian , Fu Junfen , Dong Guanping , Wu Wei , Huang Ke , Ni Yan , LIN Qiang , Liu Lanxuan , Ni Hao , Lai Can

Purpose: To evaluate the efficacy of supervised Artificial Neural Network (sANN) in bone age assessment and compare the diagnostic performance of sANN-based TW3 skeletal maturity assessment on hand radiographs with that of experienced child endocrinologists.Materials and methods: This study developed an optimized artificial intelligence TW3 bone age assessment system by using the sANN and rating for the 20 hand bones (13RUS+7carpal) from A to I. 8332 of ...

hrp0092rfc1.2 | Diabetes and Insulin Session 1 | ESPE2019

Gabra5 Contributes to Sexual Dimorphism in POMC Neural Activity and Glucose Metabolism

Pei Zhou

Objectives: To test whether Gabra5 in POMC neurons regulates energy balance and glucose metabolism in sexually dimorphic fashion.Methods: POMC-Cre mice received stereotaxic injections of AAV-FLEX-scCAS9 and AAV-FLEX-Gabra5-sgRNA-tdTOMATO into ARH to generate pomc-Gabra5 KO mice. Both male and female mice were fed on regular chow diet or HFD. Food intake, body weight and anal temperature were measured every 4 days. Fat/le...

hrp0092p1-186 | Diabetes and Insulin (1) | ESPE2019

Efficacy of Autologous Hematopoietic Stem Cell Transplantation in the Treatment of Childhood Type 1 Diabetes

Pei Zhou , Wang Hongsheng , Luo Feihong

Objective: To observe and analyze the efficacy and safety of autologous stem cell transplantation (AHSCT) in children with type 1 diabetes.Methods: Twelve children were enrolled in our study who were newly diagnosed as type 1 diabetes in Children's Hospital of Fudan University from Sep. 2009 to Dec. 2011. Changes in the exogenous insulin requirement were observed and HbA1C and C peptide level were measured before and...

hrp0089p3-p236 | Growth & Syndromes P3 | ESPE2018

A Novel Homozygous Mutation in ERCC8 Cause Cockayne Syndrome a in a Chinese Family

Yang Yu , Huang Hui , Zhou Bin

Background: Short stature can be caused by mutations in a multitude of different genes. Cockayne Syndrome is a rare growth disorder marked by progressive growth failure, neurologic abnormality. The current report describes a patient with severe short stature and neurologic abnormality.Methods: Patient with clinical diagnosis and parents were analyzed in this study. The analysis included medical histories, clinical analysis, and genetic tests. The gene wa...

hrp0092rfc4.5 | Fat Metabolism and Obesity Session | ESPE2019

GDF5 Increased White Adipose Tissue Thermogenesis Through p38 MAPK Signaling Pathway in Fatty Acid-binding Protein 4-GDF5 Transgenic Mice

LUO Feihong , ZHANG Wenting , PEI Zhou , WU Xiaohui

Growth differentiation factor 5 (GDF5) was reported to regulate brown adipogenesis, however, its effects on insulin sensitivity, full metabolic syndrome spectrum and the thermogenesis in subcutaneous white adipose tissue (sWAT) haven't been elucidated yet. We thus generated fatty acid-binding protein 4 (Fabp4)-GDF5 transgenic mice and showed that GDF5 transgenic mice developed a relative lean phenotype on a high-fat diet (HFD) and showed increased insulin sensitivity. Over...

hrp0092p3-24 | Adrenals and HPA Axis | ESPE2019

Clinical Characteristics and Genetic Analysis in one Patient with Congenital Lipoid Adrenal Hyperplasia

Xi Li , Chang Zhuo , Pei Zhou , Li Xiaojing , Luo Feihong

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...