hrp0086fc9.4 | Pathophysiology of Disorders of Insulin Secretion | ESPE2016

The Protective Effects of Adenovirus-mediated IL-10 Gene and Anti-CD20 Monoclonal Antibody on the Pancreatic β Cells of NOD Mice in the Early Stage of Natural T1D Onset

Li Tang , Li Cheng , Fan Lei , Tian Fei , Tang Aiping

Background: Type 1 diabetes (T1D) is an autoimmune disease (AID) whose primary features include progressive pancreatic β cell damage and absolute insufficient endogenous insulin secretion. Recent studies have shown that a Th1/Th2 cell subset unbalance and excessively activated B lymphocytes are important pathogenic mechanisms.Objective and hypotheses: To investigate the protective effects of Adenovirus-mediated IL-10 gene and anti-CD20 monoclonal an...

hrp0082p1-d1-67 | Diabetes | ESPE2014

Protective Effects of Combined Intervention with Adenovirus Vector Mediated il10 and igf1 Genes on Endogenous Islet β Cells in Nonobese Diabetes Mice with Onset of Type 1 Diabetes Mellitus

Li Tang , Zhang Lijuan , Chen Yanyan , Li Cheng , Lin Xiaojie

Introduction: To investigate the protective effects of combined intervention with adenovirus vector mediated interleukin 10 (IL10) and IGF1 genes on islet β cells in nonobese diabetes (NOD) mice with type 1 diabetes mellitus (T1D) at early stage.Methods: Twenty-four female NOD mice at onset of diabetes and aged 17–20 weeks old were randomly divided into four groups. Mouse 1, 2, and 3 groups were i.p. injected 0.1 ml of Ad-mIGF1, Ad-mIL10, and c...

hrp0082p3-d1-886 | Perinatal and Neonatal Endocrinology | ESPE2014

3-Ketothiolase Deficiency Induced by ACAT1 Gene Mutation

Li Li , Min Zhu , Huiying Mao , Feng Xiong

Background: 3-Ketothiolase deficiency (3KTD) is an inherited error of metabolism affecting isoleucine catabolism and ketone body utilization. This disorder is clinically characterized by intermittent ketoacidotic episodes with no clinical symptoms.Objective and hypotheses: To research the gene mutation of 3 acetoacetyl-CoA thiolase in non-diabetic ketoacidosis and provide a basis for diagnosis of 3KTD.To reveal the role of 3 acetoacetyl-CoA thiolase in i...

hrp0084p2-504 | Perinatal | ESPE2015

Association of Dll4 Levels and VEGFR-1, VEGFR-2 in Mice Model of Oxygen-Induced Retinopathy

Liu Wangkai , Su Yihua , Zhuang Siqi , Li Xiaoyu , Li Yijuan

Background: Notch1 – Delta-like ligand 4 (Dll4) signaling pathway has a biological effect of negative feedback regulation to VEGF in retinal vascular development process. There are few studies on the inhibition of Notch1-Dll4 signaling pathway in ROP and the regulatory pathway of VEGF.Objective and hypotheses: 67-day-old mice were divided into oxygen-induced retinopathy group and control group. We took ten mice from each group at postnatal day 7 (p7...

hrp0084p3-1096 | Perinatal | ESPE2015

Role of Notch1-Dll4 Signalling Pathway in Mice Model of Oxygen-induced Retinopathy

Liu Wangkai , Su Yihua , Zhuang Siqi , Li Xiaoyu , Li Yijuan

Background: Notch1-Delta-like ligand 4 (Dll4) signalling pathway has a biological effect of negative feedback regulation to VEGF in retinal vascular development process. There are few studies on the inhibition of Notch1-Dll4 signalling pathway in ROP and the regulatory pathway of VEGF.Objective and hypotheses: To investigate the role that Notch1-DLL4 signal pathway played in the oxygen-induced retinal neovascularization of mice by analyzing the expressio...

hrp0097fc5.4 | Diabetes and insulin 1 | ESPE2023

Changes of intestinal flora in children with type 1 diabetes mellitus and its related immune mechanism

Liu Ying , Li Liman , Wu Jin , Li Hong

Key words: Type 1 diabetes mellitus; Intestinal flora; metagenomic sequencing; cytokines; AutoimmunityObjective: This study aims to verify the effect of intestinal microbiota diversity on the disease development of T1DM mice model, and to explore the mechanism of intestinal microbiota in the development of type 1 diabetes mediated by related cytokines.Method: T1DM mouse model was e...

hrp0095p1-463 | Fat, Metabolism and Obesity | ESPE2022

Clinical characteristics of sitosterolemic children with xanthomas as the first manifestation

Zhang Jun , Chen Qiu-li , Guo Song , Li Yan-hong , Li Chuan , Zheng Ru-jiang , Ma Hua-mei

Background: Sitosterolemia (STSL) is an extremely rare genetic disease. Xanthomas as the first symptom is frequently misinterpreted as familial hypercholesterolemia (FH) in children. Inappropriate treatment may deteriorate the condition.Objectives: The goal of this study was to summarize the clinical characteristics of children with STSL who had xanthomas as their first symptom and to provide clues for early clinical dia...

hrp0095p1-573 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Long-term follow-up of DHH variant-caused 46, XY disorders of sex development with multiple complications in a Chinese Child

Pan Lili , Li Zuoguang , Su Zhe

Background: The Hedgehog (HH) family plays an important role in the development, proliferation and homeostasis in various tissues and organs. Desert hedgehog(DHH), as a member of this family, is mainly involved in the normal development of testis and the formation of nerve sheath. DHH variation mainly causes 46, XY disorders of sex development (DSD) with or without minifascicular neuropathy(MN). Up to date, only 22 affected patients in detail have bee...

hrp0095p2-171 | Growth and Syndromes | ESPE2022

Case report of a child with cerebellar-facial-dental syndrome and multiple coexisting genetic, endocrine and neurological diagnoses

and neurological diagnoses endocrine , Li Tanya , Goonetilleke Rajiv

Cerebellar-facial-dental syndrome is a rare autosomal recessive disorder due to biallelic variants in the BRF1 gene. It is characterised by cerebellar hypoplasia, intellectual disability, dysmorphic facial features and short stature. There have been only 12 patients described in the literature to date. We report a case of a 9-year-old non-consanguineous Caucasian boy with cerebellar-facial-dental syndrome and multiple coexisting diagnoses, including Klinefelter syndrome (XXY k...

hrp0092p2-188 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Clinical and Molecular Genetic Characterizations of Five Patients Harboring Mutations in the GNAS Gene: A Case Series and Literature Review

Li Xin , Chang Guoying , Wang Yirou , Xu Yufei , Li Guoqiang , Li Xin , Li Juan , Ding Yu , Chen Yao , Wang jian , Wang Xiumin

Objective: Inactivating mutations in the gene encoding the alpha-subunit of Gs (GNAS) gene, which consists of exons 1-13 and encodes the alpha-subunit of the stimulatory G protein (Gsa), are associated with several clinical syndromes, including pseudohypoparathyroidism (PHP), pseudopseudohypoparathyroidism (PPHP), and progressive osseous heteroplasia (POH).Method: We documented patient clinical characteristics a...