ObjectiveTo systematically investigate the pooled prevalence of Small Intestinal Bacterial Overgrowth (SIBO) in patients with Irritable Bowel Syndrome (IBS) compared to healthy individuals and to evaluate the therapeutic efficacy of rifaximin in IBS patients with concomitant SIBO.MethodsA comprehensive computer-based search was conducted across databases including PubMed and Embase from their inception until December 2025. Relevant cohort studies, case-control studies, and cross-sectional studies were included. Study quality was assessed using the Newcastle-Ottawa Scale (NOS). Meta-analysis was performed using a random-effects model.ResultsA total of 25 studies were included. The pooled risk of SIBO was significantly higher in IBS patients compared to healthy controls (OR = 5.71, 95% CI: 3.45–9.45). The Glucose Hydrogen Breath Test (GBT) subgroup showed a higher odds ratio and lower heterogeneity. Rifaximin treatment achieved a pooled SIBO eradication rate of 59% (95% CI: 0.48–0.68), with the medium-to-high dose group (≥ 1,200 mg/day) showing a slightly superior efficacy compared to the lower-dose group.ConclusionA significant association exists between SIBO and IBS. Rifaximin is an effective treatment for IBS patients with concomitant SIBO. The substrate choice for SIBO diagnosis involves a trade-off: while GBT offers greater diagnostic stability and specificity, LBT provides broader sensitivity for distal overgrowth. This evidence-based nuance should guide clinical substrate selection based on the diagnostic priority.Systematic review registrationINPLASY.COM, identifier NPLASY202630002.

IntroductionHypomorphic mutations of DCLRE1C cause an atypical severe combined immunodeficiency (SCID), and Epstein-Barr virus (EBV)-related colon lymphoma is a rare complication.Case presentationA teenage boy presented with colon EBV-related colon lymphoma, plantar warts, and a history of recurrent pneumonia. His peripheral blood lymphocyte count and serum level of immunoglobulin (Ig) G were normal, but he exhibited a T+B-NK+ immunophenotype. Genetic analysis by whole exome sequencing revealed compound heterozygous mutations of DCLRE1C (NM_001033855.3), including a novel paternal splicing donor mutation (c.109 + 2T>C) in intron 1, and a maternal c.1147C>T (p.R383X) nonsense mutation in exon 13. Based on his clinical features and genetic results, the diagnosis of atypical SCID with colon lymphoma was established. Our review shows that seven patients, including our patient, have been reported to develop lymphoma, all with hypomorphic DCLRE1C mutations. Among these cases, six had EBV-related B-cell lineage lymphoma, and one had Hodgkin lymphoma with EBV reactivation. Unfortunately, all of the patients died.ConclusionRecognizing the radiosensitivity of the disease is critical for the prognosis. Hematopoietic stem cell transplantation before being infected with EBV is an optimal treatment.

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.

Tumor microenvironment (e.g., stromal cells) has been suggested to be implicated in colorectal cancer (CRC) progression. Of which, cancer-associated fibroblasts (CAFs) are believed as one of the key stromal cells in tumors. Traditionally, matrine was used to treat cancers, including CRC. Unfortunately, little is known about whether matrine inhibited CRC progression via CAFs. In this research, we analyzed cell proliferation, invasion and apoptosis by cell colony formation assay, transwell assay and Annexin V staining, respectively. circSLC7A6 and CXCR5 expression levels were examined by RT-qPCR. Exosomes were analyzed by NanoSight Tracking Analysis and exosome markers were probed by westernblot. In the results, we found that matrine significantly led to inhibited cell proliferation and invasion, and increased apoptosis. Moreover, matrine blocked circSLC7A6 exosome secretion from CAFs. circSLC7A6 acted as promoter for CRC cell proliferation and invasion, whereas as inhibitor for apoptosis. Clinically, circSLC7A6 was upregulated in CRC tumor tissues compared to adjacent normal tissues. In addition, circSLC7A6 was associated with higher overall survival. Eventually, we confirmed that chemokine receptor CXCR5 was a crucial effector for circSLC7A6-modulated tumorigenesis. Here, our data suggest matrine inhibits CRC tumorigenesis through blocking exosomal circSLC7A6 release from CAFs. This finding will provide strong evidence for treating CRC using matrine.

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.

目的 为了更好的对儿童EB病毒感染的临床特征进行分析,给临床早期针对治疗提供帮助.方法 对我院2015年2月~2016年2月收治的21例EB病毒感染患者的临床资料进行了回顾性的分析.结果 21例EB病毒感染患儿中,发热者占到90.48%,扁桃体伴有膜样分泌物占到80.95%,肝脾淋巴结肿大者占76.19%,咳嗽占47.62%,EBV-DNA检测均呈阳性.急性喉炎占4.76%;皮疹占19.05%,头痛占14.29%.经过诊断表明,EB病毒感染有关疾病大部分都是传染性单核细胞增多症、上呼吸道感染、支气管肺炎等;对症治疗之后出现治愈好转的占到95.24%;再次感染的患者占到4.76%.结论 儿童EB病毒感染比较容易触及到其他系统,临床表现更加复杂,将加强对EB病毒的诊断治疗工作,改善患儿预后,临床上值得更加关注.

目的 探讨微生态制剂联合蒙脱石散治疗小儿慢性腹泻的临床效果观察.方法 方便选取2011年10月—2015年10月在该院儿科治疗的61例小儿慢性腹泻患儿随机分为两组,对照组30例采用蒙脱石散治疗,观察组31例采用微生态制剂联合蒙脱石散治疗,比较两组患儿的临床疗效、症状改善时间、再次腹泻率.结果 观察组临床有效率为93.55％,较对照组的76.67％明显上升,两组间差异有统计学意义(P<0.05);观察组止泻时间(2.6±1.1)d、腹痛消失时间(2.4±0.8)d、呕吐消失时间(1.6±0.6)d、退热时间(1.4±0.8)d、饮食恢复正常时间(3.5±0.7)d均明显短于对照组的(3.9±0.8)、(3.7±1.0)、(2.4±0.5)、(2.2±0.6)、(4.6±0.8)d,两组间差异有统计学意义(P<0.05);观察组3个月内复发率为3.23％明显低于对照组的26.67％,两组间差异有统计学意义(P<0.05).结论 微生态制剂联合蒙脱石散治疗小儿慢性腹泻疗效显著,利于腹泻症状的早期缓解,保护肠道黏膜功能,恢复肠道生态平衡,减少复发,具有积极的临床意义.

目的:探讨儿童炎症性肠病的临床特点、治疗和预后.方法:收治炎症性肠病患儿16例,回顾性分析其临床资料.结果:溃疡性结肠炎主要表现为发热、腹泻、腹痛、消瘦、便血等;克罗恩病主要表现为发热、腹痛、关节炎、口腔溃疡等.实验室检查结果显示ESR、CRP、WBC升高,ALB、HB下降,而CD患儿CRP升高显著,且优于对照组(P<0.05);经药物治疗,症状均好转.结论:根据炎症性肠病患儿的病变特点以及临床表现,选择适当病理学、影像学、实验室检查,能对患儿进行早期诊断和治疗,从而利于其预后改善.

目的:对60例再发性腹痛患儿进行幽门螺杆菌(HP)的检测,探讨小儿再发性腹痛与幽门螺杆菌感染之间的关系。方法:选择60例反复慢性腹痛的患儿为观察组,另设健康儿童30例作为对照组,两组均接受13C-尿素呼气试验(13C-UBT)检测。结果:60例反复性腹痛儿童中,HP感染人数为37例,阳性率61.67%,对照组HP感染人数7例,阳性率23.33%,两组比较,差异有显著性(P<0.05)。结论:小儿再发性腹痛与幽门螺杆菌感染有关。