Objective:To investigate the therapeutic effectiveness of endoscopic retrograde cholangiopancreatography (ERCP) and stent implantation in the treatment of pancreaticobiliary injuries in children.Methods:A retrospective analysis was conducted on the clinical data of children diagnosed with pancreaticobiliary injury and undergoing ERCP and stent implantation at Beijing Children′s Hospital, Capital Medical University from January 2021 to December 2022. Demographic information, clinical data, endoscopic treatment methods, postoperative complications and clinical prognosis of the children were collected. The etiology, location of pancreaticobiliary injury, occurrence of complications after endoscopic treatment, and the time for improvement and recovery after endoscopic treatment were analyzed. The patients were divided into five groups according to the etiologies of pancreaticobiliary duct injuries: post-surgical, pancreatic trauma, acute pancreatitis, chronic pancreatitis, and systemic lupus erythematosus groups. They were also classified into four groups according to the sites of pancreaticobiliary duct injuries: common bile duct, pancreatic head, pancreatic body, and pancreatic tail groups. Multi-factor analysis of variance was used for comparing the time of improvement and recovery among different groups.Results:Among 22 patients, there were 8 males and 14 females, and the age was 7.5 (3.3,10.8) years. There were 19 cases of pancreatic or bile duct fistula, and 3 cases of pancreatic or bile duct stenosis. A total of 33 endoscopic procedures were performed on the 22 patients, out of which, 3 duct stenosis were failed to insert the stent because the catheter failed to pass through the stenosis site. The success rate was 91% (30/33). The pancreatic duct or bile duct stent was inserted, with the stent located at pancreatic or bile duct fistula. Postoperative complications included pancreatitis in 3 cases (9%, 3/33), hyperamylasemia in 5 cases (15%, 5/33), and postoperative infection in 4 cases (12%, 4/33). All patients were followed up for more than 1 year. Significant improvement was observed in external drainage and imaging monitoring among patients with successfully placed stents. There was no significant difference in the improvement time of ERCP in the treatment of pancreaticobile duct injury caused by different etiology ( F=0.65, P=0.637). However, there were significant differences in healing time ( F=6.46, P=0.004), among which the healing time of injuries caused by systemic lupus erythematosus was significantly different from that after surgery, trauma, acute pancreatitis and chronic pancreatitis (all P<0.05). There was no significant difference in the improvement and healing time among different injury sites (all P>0.05). Conclusions:ERCP and stent implantation can safely and effectively improve the clinical symptoms of children with pancreaticobiliary injury. Early intervention can improve long-term prognosis.

Objective:To investigate the pathogenic mechanism and clinical characteristics of the novel splicing variant of ATP-binding cassette subfamily B member 4 (ABCB4) and provide a basis for subsequent genetic diagnosis.Methods:The clinical data of a 5-year-old child with cholestatic liver disease admitted to the Beijing Children′s Hospital of Capital Medical University was retrospectively analyzed. The pathogenic variations were detected by whole exome sequencing and verified by Sanger sequencing, and bioinformatics was used to predict the pathogenicity of the mutation sites. Possible pathogenic variations were verified in vitro by Minigene assay. The clinical outcome was followed after discharge from hospital.Results:The 5-year-old boy had developed cholestasis at the age of 11 months. His physical examination showed obvious enlargement of the liver and spleen. Cholestatic cirrhosis was diagnosed by liver function tests, abdominal ultrasonography, liver biopsy and pathology. The results of genetic analysis showed that the patient was a complex heterozygote of the ABCB4 gene, with a pathogenic mutation c.2860G>A and a novel mutation c.2065-8T>G, derived from the mother and father respectively. The conservative prediction of the c.2065-8T>G site showed that this region was highly conserved and may affect splicing. Minigene assay results confirmed that the c.2065-8T>G mutation resulted in a 7 bp retention of intron 16 in the mature mRNA. In the absence of nonsense-mediated mRNA decay, the amino acid frameshift forms a truncated protein, which is represented by p.Glu689ValfsTer19. The patient was diagnosed as progressive familial intrahepatic cholestasis type 3 (PFIC3) and treated with ursodeoxycholic acid (UDCA). His clinical symptoms improved during 18 months of follow-up.Conclusions:The c.2065-8T>G variant is confirmed to affect the splicing process and exhibits complex heterozygosity with c.2860G>A, which is identified as the cause of the disease. PFIC3 children with this variant showed cholestatic liver disease as the main manifestation with a slow progression and was sensitive to treatment with UDCA.

Objective:To investigate the clinical phenotype and prognosis among different genotypes of progressive familial intrahepatic cholestasis(PFIC) by cases analysis.Methods:The PFIC cases diagnosed at Beijing Children′s Hospital from 2015 to 2022 were collected, and the clinical phenotypic characteristics, treatment and prognosis were compared and analyzed.Results:A total of 628 cases of cholestatic liver disease were diagnosed, and 26 cases of PFIC were found, accounting for 4.1%.The number of PFIC 2 were the most, 14(53.8%)cases; three(11.5%) cases were PFIC 1; five(19.2%)cases were PFIC 3; while two(7.7%) cases were PFIC 4 and PFIC 6, respectively, and there was no case of PFIC 5.Type 1, 2, 4, and 6 had early onset ages(2 days to 21 months), while type 3 had a wide range of onset ages(8 to 145 months). The symptoms included jaundice(96.2%), pruritus(42.3%), and mucosal bleeding(15.4%). All three cases of type 1 had extrahepatic manifestations of diarrhea and malnutrition.Two cases of type 3 were found to have end-stage liver disease.Cases of PFIC 3 had increased serum γ-glutamyltransferase(97.2-439.5 U/L), while those of other types were normal.The bile acids were all increased(10.1-599.6 μmol/L). Abdominal ultrasound mainly showed liver enlargement(80.8%)and enhanced echogenicity of liver parenchyma(73.1%), enlargement of the spleen(61.5%). Ultrasound liver elastography ranged from 6.3 kPa to 23.1 kPa, there were 21(80.8%) cases ≥9 kPa.Among 26 cases, one case was lost to follow-up, and 11 cases were effective by oral medication alone.Fourteen children were still suffering from relapse or progress after drug treatment: four cases received liver transplantation (three cases had a good prognosis and one case died), two cases received biliary drainage, six cases were still taking drugs orally, and two cases died without active intervention in disease progress.Conclusion:Type 2 is the most common type in PFIC.The onset of most cases is in infancy.Jaundice, pruritus and hepatosplenomegaly are common clinical manifestations, and extrahepatic manifestations can be seen in type 1 cases.Type 3 cases can start with end-stage liver disease.Bile acid of all cases are increased.Except for type 3, the serum γ-glutamyltransferase of cases are normal.Oral medication has certain effects on some cases, but more than half progress, and some need biliary diversion or liver transplantation.

Objective:To investigate the expression and clinical significance of vitamin D receptor (VDR) and human β-defensin-2(HBD2) in children with Helicobacter pylori (Hp) infection and gastritis.Methods:Eighty-one children who were hospitalized in the Department of Gastroenterology at Beijing Children′s Hospital from January 2021 to June 2023 and underwent endoscopic examination were collected.They were divided into Hp infection group and non-Hp infection group according to whether they were infected with Hp.The expression levels of VDR and HBD2 between two groups, and the correlation between VDR, HBD2 expression levels and gastritis were compared and analyzed.Results:Among 81 cases, 48 cases were Hp positive, including 24 males and 24 females, with an average age of (11.4±2.7) years; 33 cases were Hp negative, including 14 males and 19 females, with an average age of (11.3±2.6) years.There were no significant differences in sex and age between two groups ( P>0.05). The positive rates of VDR and HBD2 expression in gastric mucosa of children with Hp infection were higher than those of children without Hp infection, and the differences were statistically significant (87.5% vs.39.4%, 79.2% vs.63.6%, all P<0.05). The expressions of VDR and HBD2 had no correlation with age and sex ( P>0.05). The expressions of VDR and HBD2 were positively correlated with granular degeneration of gastric mucosa ( r=0.384, P<0.001; r=0.258, P=0.020). The expression of VDR was positively correlated with the degree of gastric inflammation ( r=0.365, P=0.001), while the expression of HBD2 was not correlated with the degree of gastric inflammation ( P>0.05). Conclusion:The expression levels of VDR and HBD2 in gastric mucosa of children infected with Hp are increased.The expression level of VDR is correlated with the degree of gastritis and the granular degeneration of gastric mucosa.The expression level of HBD2 is correlated with the granular degeneration of gastric mucosa.But there is no correlation between the level of HBD2 expression and the degree of gastritis.

Due to the high mortality rate of severe acute pancreatitis in children, early and adequate evaluation of children with acute pancreatitis, early identification of risk factors leading to severe acute pancreatitis, and active intervention therapy have important impacts on the outcome of acute pancreatitis.This review summarized clinical guidelines or consensus worldwide, and elaborated the diagnosis and treatment of severe acute pancreatitis in children from the aspects of epidemiology, clinical features, early screening evaluation and treatment measures.

Objective:To clarify the M protein ( emm gene) types and drug susceptibility characteristic variations of Group A Streptococcus (GAS) in children in Beijing. Methods:The GAS strains isolated from throat swab samples of children diagnosed with scarlet fever and pharyngeal infection in scarlet fever etiology surveillance sentinel hospitals in 16 districts of Beijing in 2018, 2019 and 2021 were analyzed retrospectively.PCR amplification and sequencing were used for emm genotyping, and the minimum inhibitory concentrations (MIC) of 10 antibiotics were determined by the broth microdilution method.The data were analyzed using χ2 test and Fisher′ s exact method between groups. Results:A total of 557 GAS strains were collected, and 11 emm genotypes ( emm1, emm3, emm4, emm6, emm11, emm12, emm22, emm75, emm89, emm128, and emm212) were detected.Of 557 strains, 238 trains were of emm1 type (42.73%), 271 strains were of emm12 type (48.65%) and 48 strains were of other emm types (8.62%). The detection rates of emm1, emm12 and other emm type genes in 2018, 2019, and 2021 were [37.50% (105/280 strains), 57.14% (160/280 strains), 5.36% (15/280 strains)], [49.05% (129/263 strains), 39.54% (104/263 strains), 11.41% (30/263 strains)], and [28.57% (4/14 strains), 50.00% (7/14 strains), 21.43% (3/14 strains)], respectively.In children infected with emm12 in 2018 and 2019, there were more children under 6 years old than children over 6 years old (62.50% vs.46.88%, 46.36% vs.30.36%) (χ 2=7.182, 6.973; all P<0.05). Drug susceptibility testing results suggested that 225 randomly selected GAS strains were all 100.00% sensitive to 7 antibiotics including Penicillin, Levofloxacin, Meropenem, Linezolid, Cefotaxime, Cefepime and Vancomycin.The rates of resistance to Erythromycin, Tetracycline and Clindamycin were [88.57% (93/105 strains), 87.62% (92/105 strains), 86.67% (91/105 strains)], and [94.34% (100/106 strains), 94.34% (100/106 strains), 87.74% (93/106 strains)] in 2018 and 2019, respectively.The test strains were 100.00% (14/14 strains) resistant to the above 3 antibiotics in 2021.MIC 50 and MIC 90 values of Penicillin in 2018, 2019, and 2021 were (0.03 mg/L, 0.03 mg/L), (0.03 mg/L, 0.06 mg/L), and (0.06 mg/L, 0.06 mg/L), respectively.Among 225 GAS strains, 207 strains had drug resistance and were resistant to more than one drug.Specifically, 94.69% (196/207 strains) were resistant to Erythromycin, Tetracycline and Clindamycin.About 4.35% (9/207 strains) were resistant to both Erythromycin and Clindamycin.A total of 0.97% (2/207 strains) were resistant to Erythromycin and Tetracycline. Conclusions:The emm genotypes of GAS in children in Beijing are diverse in 2018, 2019 and 2021.The dominant genotypes are emm12 and emm1, and emm12 is the main epidemiological type.GAS strains maintain highly resistant to Erythromycin, Clindamycin and Tetracycline, and sensitive to Penicillin and other antibiotics.However, MIC 50 and MIC 90 of Penicillin shows an ascending trend.

Objective:To summarize and analyze the clinical features of food protein-induced enterocolitis syndrome (FPIES).Methods:The medical history and follow-up data of 5 children with FPIES diagnosed in Department of Gastroenterology, Beijing Children′s Hospital of Capital Medical University from July 2018 to September 2019 were collected, and their clinical characteristics were summarized and analyzed.Results:Five children with FPIES were all infants, including 3 females and 2 males.Before the onset of the disease, the cases visited multiple departments and the average number of visits before diagnosis was 3.There were 4 cases of milk protein allergy and 1 case of egg white allergy.The patients had acute vomiting [5 cases (100%)], diarrhea [4 cases (80%)], early shock symptoms [5 cases (100%)], transient fever [2 cases (40%)]. Hematogenous leukocytes were increased in 3 cases (60%), C-reactive protein was increased in 1 case (20%), faecal leukocytes(+ )[2 cases (40%)], occult blood (+ ) [1 case (20%)]. Four cases were tested for food allergen specific IgE, of which 2 cases (40%) were positive for milk protein.After avoiding allergens, 3 patients (60%) needed intravenous rehydration treatment and 2 cases (40%) received oral rehydration treatment.The above 5 cases recovered quickly.Three patients (60%) used antibiotics.Four cases (80%) of the first-degree relatives of FPIES had a clear history of allergy.Families of children with FPIES had low awareness of the disease before the diagnosis was made, and the allergens were strictly avoided according to the doctor′s instructions after the diagnosis was made.Similar allergic reactions did not occur again, and complementary foods were gradua-lly added under the guidance of the doctor.Two patients had multiple food allergies.The body weight and length of 2 children with growth retardation were catching up with each other.Conclusions:FPIES is a serious food allergy related gastrointestinal disease which is easy to be misdiagnosed clinically.The diagnosis requires a combination of the family and personal allergy history, diet records, the characteristic performance of disease onset, the effect of diet avoi-dance and the necessary differential diagnosis.The long-term management and monitoring after diagnosis is also very important.

Objective:To explore the self-management trajectory of patients with percutaneous coronary intervention (PCI) , in order to provide better guidance for disease self-management of patients with PCI.Methods:From April to December in 2019, a total of 15 patients with PCI who were treated and followed up in a Class Ⅲ Grade A hospital in Harbin and a Class Ⅲ Grade A hospital in Tianjin were selected as the research objects. All 15 patients were interviewed and recorded. Then the records were transcribed and analyzed with open coding, axial coding and selective coding according to the grounded theory put forward by Strass and Corbin, to identify the categories and core category.Results:The core category of disease self-management of patients undergoing PCI was "crisis-conscious path of PCI patient self-management", that was, the path of PCI patient self-management presented a dynamic process with the change of disease risk cognition. When patients were aware of the disease risk, they would enter the path of active health management, and when patients were unaware of the disease risk or risk cognition declines, they would enter the path of ignoring the disease self-management.Conclusions:Medical staff should pay attention to and strengthen the early postoperative risk awareness education of PCI patients; quantify patients' cognitive needs of health education and give targeted health education intervention measures; strengthen supervision and management outside the hospital, and establish the concept of lifelong self-management for patients.

Objective:To explore the infection rate and clinical characteristics of toxigenic Clostridium difficile in children with inflammatory bowel disease (IBD). Methods:From July 2015 to October 2016, the fecal samples and clinical data of 30 IBD children admitted to Department of Gastroenterology, Beijing Children′s Hospital, Capital Medical University, as well as the specimens and data of 30 healthy children were collected in the meantime. The toxin gene of Clostridium difficile was detected and clinical characteristics of children with positive toxin gene were analyzed retrospectively. χ 2 test was used to compare the variables between groups. Results:Among the 30 IBD patients, 15 were in ulcerative colitis (UC) group and 15 in Crohn′s disease (CD) group. In the IBD group, 6 (3 in UC and 3 in CD group) had positive result of toxigenic Clostridium difficile (20%), among whom 5 were toxin Clostridium difficile A (tcdA) +toxin Clostridium difficile B (tcdB) -, and 1 was tcdA+tcdB+. In the healthy group, only one had positive result of toxigenic Clostridium difficile (3%), which was tcdA+tcdB-. Binary toxin gene was negative in both groups. The infection rate of toxigenic Clostridium difficile in IBD group was significantly higher than that in healthy control group (χ 2=4.043, P=0.044). In UC group, no Clostridium difficile toxin gene was detected during the remission period (0/1), one case was positive for toxin gene (1/11) during mild active period, and 2 cases were (2/3) during moderately active period. There were significant differences in the infection rate of toxigenic Clostridium difficile between patients in different active period (χ 2=4.000, P=0.046). The main manifestations of the 6 cases were diarrhea, abdominal pain and bloody stool, and the relapsed case was characterized by sudden aggravation. TcdA was detected in all toxin gene positive samples, and 1 case combined with tcdB had more serious bloody mucopurulent stool. Five cases had colonoscopy, but there was no obvious characteristics of toxigenic Clostridium difficile colitis such as yellow white plaques or pseudomembranous spot. Three cases had antibiotic exposure history. All 6 cases were sensitive to metronidazole treatment, and stable without relapse during the 3-month follow-up. Conclusions:The infection rate of toxigenic Clostridium difficile in children with IBD is higher than that in healthy children. The patients with both tcdA and tcdB could have more serious clinical symptoms, although there may not be specific pathological changes of toxigenic Clostridium difficile colitis. The recognition of toxigenic Clostridium difficile infection in IBD children should be strengthened in clinical work.

Objective To explore the clinical features,efficacy and prognosis of different treatments for children with achalasia of cardia(AC).Methods In this retrospective study,the clinical features,laboratory examination and treatment of 36 children with AC who had been admitted to Department of Gastroenterology,Beijing Children's Hospital,Capital Medical University from August 2006 to September 2015 were reviewed,and the efficacy and prognosis of different treatments were compared.The symptoms of the children were graded using the AC clinical symptom score(Eckardt score),and the Eckardt score ≤ 3 scores was defined as the effective treatment.SPSS 19.0 statistical software was used to analyze the data,and P<0.05 for the difference was statistically significant.Results Thirty-six children with AC included 24 boys and 12 girls.Ages ranged from 1.4 to 15.5 years old,with a mean age of(10.0±3.4)years old.Course of disease ranged from 1 month to 9 years,with a mean course of 0.5(0.2,3.0)years.In the 36 children,33 cases(91.7％)had vomiting,23 cases(63.9％)had dysphagia,16 cases(44.4％)had weight loss,and 9 cases(25.0％)had chest pain.The effective rates of treatment in surgical treatment group and drug treatment group were 100.0％(13/13 cases)and 71.4％(5/7 cases),respectively in 3 months,and there was no significant difference between the 2 groups(P=0.111).The effective rates of treatment were 100.0％(13/13 cases)and 50.0％(3/6 cases),respectively in 6 months,and the difference was statistically significant between the 2 groups(P=0.021).Within 12 months,there was no recurrence in surgical treatment group and the effective rate was 100.0％.Children in drug treatment group had 1 case who stopped taking medicine,while the other children received surgical treatment in other hospitals due to poor drug treatment.Conclusions Drug and surgical treatment of AC both have good short-term effect,however,the medium and long-term efficacy of surgical treatment is higher than that of drug treatment in children.Symptomatic relief is more stable,and symptom is not easy to relapse for the children with surgical treatment.