Objective: To explore the application and effect of case teaching method combined with clinical pathway teaching method in clinical teaching of pediatricgastroenterology.Methods A total of 84 interns enrolled in the Department of Gastroenterology, Children''s Hospital Affiliated to Soochow University from January 2019 to June 2021 were randomly divided into experimental group (42) and control group (42).The control group adopted traditional teaching method, and the experimental group adopted case teaching method combined with clinical path teaching method.After the internship, the experimental group and the control group were evaluated for theoretical knowledge and practical operation ability, and the satisfaction evaluation was completed.The results of the two groups were compared.ResultsThe score of theoretical knowledge and practical operation ability of the experimental group were higher than those of the control group (P ＜0.05), and the satisfaction of the experimental group was higher than that of the control group (P ＜0.05), the difference was statistically significant.Conclusion Case teaching method combined with clinical pathway teaching method has achieved satisfactory results in pediatric gastroenterology department, standardized clinical teaching practice, and improved the ability of clinical diagnosis and treatment thinking of interns, which is worthy of further promotion.

Background NGLY1-related congenital disorder of deglycosylation (NGLY1-CDDG) is a multisystemic neurodevelopmental disorder in which affected individuals show developmental delay, epilepsy, intellectual disability, abnormal liver function, and poor growth. This study presents a 10-month-old female infant with elevated liver transaminases, developmental delay, epilepsy (subclinical seizures), and constipation who possesses two compound heterozygous mutations inNGLY1. Case presentation The proband was admitted to the Department of Gastroenterology, Children's Hospital of Soochow University, with elevated liver transaminases. She had a history of intrauterine growth retardation and exhibited elevated transaminases, global developmental delay, seizures and light constipation during early infancy. Whole-exome sequencing (WES) and Sanger sequencing revealed two compound heterozygous mutations inNGLY1that had been inherited in an autosomal recessive manner from her parents. One was a termination mutation, c.1168C > T (p.R390*), and the other was a missense mutation, c.1156G > T (p.D386Y). NGLY1-CDDG is a rare disorder, with a few dozen cases. The two mutations of this proband has not been previously identified. Conclusions This study investigated a Chinese proband with NGLY1-CDDG born from healthy parents who was studied using WES and Sanger sequencing to identify the causative mutations. We identified two novel compound heterozygous mutations inNGLY1, c.1168C > T (p.R390*)/c.1156G > T (p.D386Y), which are probably causative of disease.

Background and purpose: epidemiological studies that assess the association of dietary total carbohydrate intake and inflammatory bowel disease risk (IBD) have yielded controversial results. Therefore, this study of various epidemiological studies was conducted in order to explore this relationship. Methods: a systematic literature search of the PubMed, Embase, Web of Science and Medline databases was performed up to September 2017. Cohort, case-control or cross-sectional design studies were included that reported the association of dietary carbohydrate intake and IBD risk. Summary odds ratio (OR) and the corresponding 95% CI were calculated using the random effects model. Results: a total of eight articles with 15 individual studies that included 1,361 cases were eligible according to the inclusion criteria. Dietary carbohydrate intake had a non-significant relationship with the risk of IBD (OR = 1.091, 95% CI = 0.817-1.455,I-2=31.6%,p(for heterogeneity) = 0.116).The pooled OR and 95% CI for ulcerative colitis (UC) and Crohn's disease (CD) with regard to dietary carbohydrate intake was 1.167 (0.777-1.752) and 1.010 (0.630-1.618), respectively. These associations were also non-significant in both European and Asia populations. Conclusions: a higher dietary total carbohydrate intake had a non-significant relationship with IBD risk. Further studies with large populations are needed to verify this relationship.