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.

儿科临床教学是将儿科理论与实践有效结合的重要阶段,如何做好儿科临床教学工作,使学生能够更好地掌握儿科临床知识是一项艰巨的任务.文章探索翻转课堂融合TBL这种新颖的教学模式应用于儿科临床教学的可行性,从儿科临床教学的特点,翻转课堂融合TBL教学的实施过程,翻转课堂融合TBL教学的优点、存在的问题及解决的建议等方面进行论述,说明翻转课堂融合TBL教学是其他教学模式的补充、完善和优化,值得尝试.

目的 探讨苏州地区儿童肠道沙门菌感染的临床特征、分布及耐药情况,为儿童腹泻的临床诊疗提供参考.方法 收集2012年1月—2019年12月因腹泻在苏州大学附属儿童医院住院治疗的9096例患儿的粪培养结果,分析其沙门菌检出情况.回顾性分析沙门菌感染患儿的临床特点、血清型分布及药敏试验结果.结果 9096例患儿沙门菌总检出率为6.2％.2012年—2019年的检出率总体呈现上升趋势.每年6-8月为检出高峰,平均检出率为11.2％(289/2580),与其他月份相比差异具有统计学意义(χ2=155.813,P<0.001).大月龄婴儿及幼儿组(6个月～3岁)沙门菌检出率明显高于小月龄婴儿组(<6个月)、学龄前组(3～6岁)及学龄组(≥6岁),差异有统计学意义(χ2=110.704、12.768、92.086,均P<0.001).沙门菌血清型以鼠伤寒沙门菌(292株,51.9％)最多见,其次为肠炎沙门菌(101株,17.9％).<3岁儿童(婴幼儿组)和≥3岁儿童(学龄前及学龄组)相比,鼠伤寒沙门菌和肠炎沙门菌构成比的差异具有统计学意义(χ2=41.284,P<0.001).不同血清型沙门菌的耐药性存在差异,鼠伤寒沙门菌和肠炎沙门菌对氨苄西林、哌拉西林的耐药率均明显高于其他血清型,对环丙沙星的耐药率低于其他血清型;肠炎沙门菌对头孢哌酮的耐药率高于其他沙门菌,对复方新诺明耐药率低于其他沙门菌.鼠伤寒沙门菌多重耐药(MRD)率最高,为56.2％(164/292),与其他血清型相比差异具有统计学意义(χ2=11.764,P<0.01).结论 苏州地区儿童肠道沙门菌感染总体呈现上升趋势,血清型以鼠伤寒沙门菌为主,不同血清型沙门菌的耐药性存在差异,鼠伤寒沙门菌MRD率最高,值得临床重视.

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.

目的 分析先天性无痛无汗症患儿临床表现及基因突变,并复习相关文献.方法 分析2017年5月苏州大学附属儿童医院消化科收治的1例先天性无痛无汗症患儿临床资料,采集患儿及父母外周血对酪氨酸激酶受体1型(NTRK1)进行基因测序.结果 患儿主要临床表现为无痛、无汗、反复发热、严重舌咬伤及神经运动发育落后,基因分子遗传学分析结果显示存在两处杂合突变c.851-33T＞A和c.1958C＞T,这两处杂合突变分别来自于父母.其中c.851-33T＞A为既往已报道杂合突变,c.1958C＞T为未报道的杂合突变,使用Polyphen预测软件该突变为可能有害,Mutation Taster和SIFT软件预测该突变为有害.结论 先天性无痛无汗症临床罕见,容易漏诊及误诊,基因分子遗传学分析有助于诊断及发现新的基因突变.

Objective To analyze the common pathogens and prevalence characteristics of viral diarrhea of the children in hospital that under 5 years in Suzhou, in order to prevent and treat the children with viral diarrhea. Methods 1 735 fecal specimens were collected from the children under 5 years with viral diarrhea who were hospitalized in the digestive department of Children's Hospital Affiliated to Soochow University from January 2013 to December 2017, rotavirus (RV) was detected by ELISA, strain characterization was carried out by nested PCR, norovirus (NoV), spavirus (SaV), enteric adenoviruses (EAdV) and astrovirus (AstV) were detected by RT-PCR or PCR. Results A total of 1 735 fecal specimens were collected and tested. The positive rate of RV, NoV, SaV, EAdV and AstV was 31.6%, 16.9%, 2.3%, 2.6% and 1.9%. Co-infection with multiple enteric viruses were present in 9.0% of all samples. (1)RV G9 was the most serotype (83.6%), and P[8] (94.5%) was the most common genotype. The most common G-P combination was G9P[8]. Among the 549 RV positive specimens, the virus detection rate of 12～23 month age group was the highest, the peak of virus detection was concentrated in October to next February. (2)In 293 NoV positive specimens, the detection rate of 12～23 months and 36～60 months was the highest. The peak of virus detection was concentrated in October. (3)40 cases positive specimens of SaV, the virus detection rate of 12～60 month age group was high; 45 cases of EAdV positive specimens, of which ＜2 years old accounted for 73.3%, 33 cases of AstV positive specimens, of which ＜2 years old accounted for 81.8%. Conclusion Group A RV was the most important pathogen of viral diarrhea in children under 5 years in Suzhou, the second was NoV. The epidemic strains of group A RV was G9P[8], and the epidemiological characteristics of different kinds of viruses were different.

OBJECTIVE:To understand the epidemiological and clinical characteristics of <2 years old children hospitalized due to intussusceptions.METHODS:Clinical and demographic data of <2 years old children hospitalized due to intussusception between January 2007 and August 2013 were retrospectively collected in Affiliated Children' s Hospital of Soochow University in Suzhou. The incidence data, age distribution, seasonality and clinical characteristics of hospitalized intussusceptions cases were analyzed.RESULTS:A total of 594 intussusception-related hospitalizations were identified during this period in children aged <2 years, no death occurred. The crude incidence of hospitalized intussusception was 57.3 per 100,000 in children aged <2 years (95%CI: 52.8-62.1), and 100.6 per 100,000 in children aged <1 year (95%CI: 92.1-109.8). The male to female ratio was 1.90:1. Up to 85.4% (507/594) of the cases were aged <1 year, and 66.2% (393/594) of the cases were aged 3-8 months. The incidence peaked in age group 5-8 months. The median age of the cases was 6.8 months (QR=4.4), and increased from 6.3 months (QR=4.2) in 2007 to 7.3 months (QR=4.0) in 2013. No obvious seasonality was observed. Main symptoms or signs included vomiting (83.2%, 494/594), abdominal mass (81.1%, 482/594), and bloody stool (64.5%, 383/594). Abdominal ultrasonic testing was the most frequently used diagnostic approach (98.7%, 586/594). Up to 86.2% (512/594) of patients were successfully treated by surgical intervention. The main sites for acute intussusception in children aged <2 years were ileocolic (34.5%, 183/530), ileo-ileo (30.8%, 163/530) or ileo-ileo-colic (27.9%, 148/530).CONCLUSION:The incidence of hospitalized intussusception in children aged <2 years was high in Suzhou. It is necessary to establish an active surveillance system to provide baseline data for the evaluation of rotavirus vaccine safety.

Objective To evaluate the effect of low osmolarity ORS and smecta in children with diarrhea. Methods 153 diarrhea patients were recruited in this research, who were randomly selected from diarrhea outpatient clinics in our department. They were divided into 3 groups:Group A of 50 cases were treated with low osmolarity ORS, Group B of 53 cases were treated with ORSⅡand smecta, Group C of 50 cases were treated with low osmolarity ORS and smecta, then character and frequency of the stools, vomiting times were recorded on the 3rd and 5th day after treatment, and significant efficiency in 72 hours were compared. Results There were no significant differences among these 3 groups in age, sex and clinical manifestations (vomiting times, diarrhea frequency, dehydration and mental state). 2 days after treatment, character and frequency of the stools, vomiting times in Group C were significantly better than Group A and B (P<0.05), there were no significant difference in frequency of stools and vomiting between Group A and B. 4 days after treatment, all patients in three groups turned better, there were no difference among character and frequency of the stools, vomiting times (P>0.05), but Group C had a higher significant efficiency in 72 hours than Group A and B. Conclusion Low osmolarity ORS,together with smecta, can relieve vomiting, and decrease stool frequency, have a higher significant efficiency.