hrp0082p3-d2-747 | Diabetes (3) | ESPE2014

Comparison the Clinical Efficacy of Autologous Hematopoietie Stem Cell Transplantation and Traditional Insulin Therapy in Newly Diagnosed Primary Childhood Type 1 Diabetes

Yi Gu , Chunxiu Gong , Xiaoxia Peng , Liya Wei , Chang Su , Fengting Li , Yi Wang

Objective: Evaluation the clinical efficacy of autologous hematopoietie stem cell transplantation and traditional insulin therapy.Methods: This is a case–control study. The subject investigated were diagnosed primary childhood type 1 diabetes in Beijing Children’s Hospital Endocrinology Centre, and there are 14 cases did the immune intervention combined with autologous hematopoietie stem cell transplantation in other hospital during the first 3...

hrp0089p1-p187 | Growth & Syndromes P1 | ESPE2018

A Novel Deadly Variant in the TP53 Gene Causing Li-Fraumeni Syndrome. The Importance of Clinical Awareness and the Contribution of Molecular Diagnosis in Active Prevention Within Families with Multiple Tumor Incidents at a Young Age

Bothou Christina , Spyridis Georgios P , Papantonatos Dionysios A , Stratakis Constantine A , Papadimitriou Dimitrios T

Background: Li-Fraumeni Syndrome (LFS) is an autosomal dominant hereditary cancer syndrome associated with germline pathogenic variants in in the TP53 gene and high risk of a broad range of early-onset malignancies. The 70-77% of LFS associated tumors are: breast cancer, soft-tissue sarcoma, brain tumor, osteosarcoma and adrenocortical carcinoma. However, ovarian, pancreatic and gastrointestinal track tumors are also LFS-related. The patients with LFS are at risk for a second ...

hrp0092p1-326 | Diabetes and Insulin (2) | ESPE2019

Copy Number Variation (CNV) Sequencing Identifies a Novel Mutation of the Glucokinase Gene in Maturity-Onset Diabetes of the Young

Li Yan , Li Pin

Backgrounds: Maturity-onset diabetes of the young (MODY) is a cluster of early-onset, monogenic disorders which is inherited in autosomal dominant form. It is mainly caused by genetic defects in beta-cell, which results in beta-cell dysfunction. Till now, 14 MODY types specified by mutation in respective 14 genes with their etiologies are known. Among them, glucokinase (GCK) gene encodes glucokinase enzyme which plays a crucial role in the regulation of insuli...

hrp0089p3-p413 | Growth & Syndromes P3 | ESPE2018

Conversion of Hypothyroidism to Hyperthyroidism in Children

Ju Li

Objective: To highlight conversion of hypothyroidism to hyperthyroidism by case reported and literatures reviewed.Methods: Case report and literature review.Results: Two children diagnosed as Hashimoto’s thyroiditis with hypothyroidism and treated with levothyrocine primary. During the following, hyperthyroidism was noted even the stop the administration of levothyrocine. thyroid receptor antibody (TRAb) was positive during th...

hrp0084p2-246 | Diabetes | ESPE2015

Protective Effects of Combined Intervention with Adenovirus Vector Mediated IL-10 and IGF1 Genes on Endogenous Islet β Cells in Nonobese Diabetes Mice with Onset of Type 1 Diabetes Mellitus

Li Tang

Introduction: To investigate the protective effects of combined intervention with adenovirus vector mediated interleukin 10 (IL-10) and insulin-like growth factor 1 (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 intraperitoneally ...

hrp0084p2-368 | Fat | ESPE2015

Effect of Visfatin on Gene Expression of Insulin Signaling Molecules in SW872 Adipocytes

Ruizhen Li

Background: To evaluate potential function of visfatin in SW872 adipocytes under the conditions which produce insulin resistance by free fatty acids (FFAs). Then to explore the mechanism of visfatin on the level of signal molecules.Objective and hypotheses: To evaluate the effects of visfatin on the mRNA expressions of the insulin signal molecules including insulin receptor substrate 1 (IRS1), IRS2, and phosphatidylinositol 3 kinase (PI3K) on the states ...

hrp0094fc3.5 | Growth Disorders | ESPE2021

Clinical profiles and genetic spectra of 814 Chinese children with short stature

Li Xin ,

Context: Data and studies based on exome sequencing for the genetic evaluation of short stature are limited, and more large-scale studies are warranted. Some factors increase the likelihood of a monogenic cause of short stature, including severe short stature (<–3 standard deviation scores) and small for gestational age (SGA) without catch-up growth. However, whether these factors can serve as predictors of molecular diagnosis remains unknown.<p c...

hrp0092p1-324 | Diabetes and Insulin (2) | ESPE2019

Cataract in Type 1 Diabetes Mellitus Patients- a Nationwide Population-Based Study

Chen Li-Min , Lu Wen-Li

Though most ophthalmologic emphasis has been stressed on the influence of retinopathy on the young diabetic community, lesser known is the complication of cataract, which has resulted in more than half of the blindness worldwide. This study attempts to stratify the epidemiology and risk factors of cataract in the type 1 diabetes mellitus (T1DM) population using data extracted from the National Health Insurance Research Database (NHIRD) in Taiwan.A two-st...

hrp0092p1-304 | Adrenals and HPA Axis (2) | ESPE2019

Identification of Novel and Rare CYP21A2 Variants in Chinese Patients with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

Xu Jing , Li Pin

Objective: 21-hydroxylase deficiency (21-OHD) is the most common cause of congenital adrenal hyperplasia due to CYP21A2 gene mutation. The aim of study is to expand CYP21A2 mutational spectrum in the Chinese population and to provide novel genetic information in terms of ethnic diversity.Methods: 95 Chinese suspected 21-OHD patients with phenotypes varying from salt-wasting (SW) to nonclassic symptoms w...

hrp0089p3-p282 | Multisystem Endocrine Disorders P3 | ESPE2018

Insight of Differential Diagnosis of DAX-1 from Two Patients with Elevated Testosterone in Early Infancy

Li Tang , Ge Juan

DAX-1 is Dosage-sensitive sex reversal - Adrenal hypoplasia congenita critical region on the X chromosome 1, caused by mutation of NR0B1. It commonly presents X-Linked adrenal hypoplasia congenital, hypogonadotropic hypogonadism and infertility. However, we observed two patients whose testosterone elevated in their early infancy. Both of them are males with uneventful gestation and birth, and have a primary symptom as jaundice. For patient 1, poor feeding and pigment genital a...