ESPE Abstracts

Objective: PWS is a rare genetic imprinting disorder resulting from the expression loss of genes on the paternally inherited chromosome 15q11-13. Early-onset life-thriving obesity and hyperphagia represent the clinical hallmarks of PWS. The noncoding RNA gene SNORD116 within the minimal PWS genetic lesion plays a critical role in the pathogenesis of the syndrome.Methods: We collected inguinal white adipose tissues (ingWA...

Background: In this study we anaysed the epidemiology, clinical characteristics, immunological and metabolic factors in children with type 1 diabetes (T1DM).Methods: From January 2009 to January 2023, children with T1DM. were enrolled in this study. 79 healthy children were recruited as the control group.Results: A total of 357 children with T1DM were included, including 177 males ...

Background: Simple obese is a worldwide public health problem. Recent studies suggested a possible relationship between obese and vitamin D deficiency.Objective and hypotheses: To discuss the relationship between 25-Hdroxyvitamin D with glucose and lipid metabolism of simple obese in Chinese children.Method: 65 children with obeses (35 mild-to-moderate, 50 severe) and sixty-two children with normal weight were enrolled in this tria...

The patient was a Chinese girl who born 40 weeks of gestation by caesarean section. Her birth weight was 2900g (10th–25th centile), birth length was 48cm (10th– 25thcentile). Both parents are in good health. The family history was unremarkable. She was first admitted to our hospital because of seizure afebrile at 6 months old. She presented discontinues generalized tonic-clonic seizures for 3~5minutes several times, it seemed that these onsets were not associate...

Background: Familial growth hormone deficiency (GHD) with an autosomal dominant inheritance pattern (isolated GHD type II) due to multiple different mutations in the GH1 gene have been described.Objective and hypotheses: Describe the clinical characteristics and mutation analysis of affected individuals in a family with growth hormone deficiency inherited in an autosomal dominant pattern.Method: Medical record review.<p class="...

The genotype-phenotype relationship in PWS patients is important for a better understanding of the clinical phenotype and clinical characteristics of different genotypes of PWS in children. We aimed to explore the influence of specific gene changes on the clinical symptoms of PWS and the value of early screening and early intervention of the condition. All data in this study were extracted from the database of the XiaoPang Weili Rare Disease Care Center. The collected informat...

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...

Objective: To research the the relationship between secular trends of puberty development and obesity in child and adolescent in area of southwest China.Methods: Selected respectively 4010 childs and adolescents aged between 6 and 17 years in April 2003 to May 2005, and 1387 childs and adolescents aged between 6 and 18 years in December 2013 to November 2015 in China Chongqing area.Height, weight and the breast, pubic hair development of girls, and the t...

Background: Type 1 diabetes is characterised by destruction of islet β cell by autoimmune insulitis and islet cell apoptosis. This study analysed the microRNA 125b how to regulate pancreatic β-cells dysfunction, aiming to elucidate the association between miRNA125b and type 1 diabetes.Objective and hypotheses: Recent study indicate miRNA may have role in the development of type 1 diabetes, so this study analyse the miRNA expression profile in t...

Background: Prader-Willi syndrome (PWS) is a rare and multisystemic genetic disorder that is characterized by severe hypotonia, hyperphagia, short stature, and global developmental delay. Although early recombinant human growth hormone (rhGH) treatment has been proven to rescue some symptoms and bring additional benefits to PWS patients, studies in patients under 2 years old are scarce. Thus, this study aims to investigate the effectiveness and safety of rhGH ...