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.

Objective:To explore the cognition and nursing needs of patients with urinary incontinence after prostate cancer surgery on "Internet+ nursing service", so as to provide basis for the implementation of high-quality continuous nursing service.Methods:According to the phenomenological research method, 15 patients with urinary incontinence after radical prostatectomy in the Urology Surgery Department of the Affiliated Hospital of Medical School, Ningbo University from October to December 2021 were selected as the research object by intentional sampling method. Semi-structured interview was used to collect data, and Colazzi method was used to sort out, analyze and refine the subject.Results:The patients' awareness of "Internet+ nursing service" was biased. Many factors affected the willingness of patients with urinary incontinence to use "Internet+ nursing service". Factors that promoted willingness to use included public health emergency, traffic, physical and psychological factors. Factors impeding willingness to use included information security, operational and economic factors. The need for the content of "Internet+ nursing service" included the need for rehabilitation treatment related knowledge and supportive relationships. The need for "Internet+ nursing service" included the need to establish a "circle of friends" to obtain support from patients, the need for "online consultation, offline nursing", and the need to enrich the form of health education.Conclusions:The medical and nursing staff should give full play to the role of "Internet+ nursing service", and according to the characteristics of patients with urinary incontinence, enrich the "Internet+ nursing service" in the form of combination of graphics and text, video games, punch card interaction, to meet the needs of patients in rehabilitation training, doctor-nurse communication, patient support and other aspects, while strengthening the convenience of the operation of "Internet+ nursing service" and the timeliness of the service, so as to promote the rapid development of "Internet+ nursing service".

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 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.

Objective: To learn the colonization of Clostridium difficile in local healthy children and to investigate the colonization rate and toxin types of Clostridium difficile at different ages. Method: From September 2014 to January 2015 in a case observational study, healthy children′s fecal specimens from the health care department of Beijing Children′s Hospital were collected. The children were divided into four groups according to age: <1 year old(n=53), 1-<3 years old(n=50), 3-<6 years old(n=50) and 6-<14 years old(n=50) respectively. Polymerase chain reaction (PCR) was used to detect Clostridium difficile toxin genes including tcdA, tcdB, binary toxin CDT (cdtA and cdtB), and toxin regulatory genes including tcdC, tcdD and tcdE. And then the positive samples were sequenced. Measurement data were compared by using t test and rank sum test, while, enumeration data were compared using chi-square test. Result: Fifteen (7.4%) specimens were positive for Clostridium difficile toxin genes in 203 stool specimens. Of the 15 positive specimens, eight(53.3%) were tcdA⁺ tcdB^-(A⁺ B^-), four were A⁺ B⁺ , 3(20.0%) were A^-B⁺ , the binary toxin-positive specimens were not detected. TcdC, tcdD, tcdE positive specimens were 8, 6 and 11, respectively. Gene mutations were not found in positive samples by DNA sequencing. In the 15 positive samples, four (7.5%) specimens were in <1 year old group; four (8.0%) specimens were in 1-<3 years old group; one(2.0%) specimen was in 3-<6 years old group; and 6(12.0%) specimens were in 6-<14 years old group. The colonization rate had no significance in different age groups. Conclusion The colonization rate of Clostridium difficile in healthy children was 7.4%. And toxigenic Clostridium difficile can be detected in all age groups.

Objective: To increase the recognition of pancreatic cystic fibrosis (PCF) in children and facilitate diagnosing and treatment of this rare entity. Method: This is a retrospective analysis of children who presented to Beijing Children′s Hospital affiliated to Capital Medical University from January 2010 to December 2015. We describe their clinical features, laboratory testing and management. Result: Eleven children were diagnosed with PCF by genetic testing or sweat chloride test during these 5 years, including 4 boys and 7 girls. Their age ranged from 0.5-14.3 (mean 9.0±3.9) years. Family history was positive in 3 children. Significant clinical findings on presentation were: malnutrition 6, including 2 cases of mild, moderate and severe malnutrition each; diarrhea 4 (yellow mushy or watery stool with frequency ranging from 2-5 times a day), including 1 case of acute diarrhea and 3 of chronic diarrhea, 3 of them had steatorrhea; abdominal pain 3. All of them had pancreatic lesions shown by abdominal ultrasound. Blood tests showed 6 cases had elevated serum amylase and lipase. The main treatment was pancreatic replacement therapy and nutritional support. Conclusion PCF is rare in children. Malnutrition, diarrhea and abdominal pain are the main clinical manifestations. Treatment is mostly pancreatic enzymes replacement and supportive care.

Objective To investigate the effect of haplotype and linkage disequilibrium of PPARγgene rs3856806, rs12490265, rs1797912, and rs1175543 in patients with metabolic syndrome ( MS) in Kazakhs of Xinjiang.Methods MALDI-TOF-MS was used to detect PPARγgene rs3856806, rs12490265, rs1797912, and rs1175543 genotypes in 489 subjects ( including 245 MS and 244 controls ) .Results ( 1 ) The frequencies of rs3856806T, rs12490265A, rs1797912C and rs1175543G alleles for MS group in Kazakhs were all significantly lower than those for controls [ rs3856806T allele:12.53% vs 17.01%; rs12490265A allele: 31.84% vs 38.52%;rs1797912C allele:35.31%vs 43.24%;rs1175543G allele:40.61%vs 47.54%(all P<0.05)].(2)Significant linkage disequilibrium were observed between PPARγgene rs1797912 and rs1175543, rs12490265, and rs1175543 polymorphisms.(3)AGCC and GAAT were significantly different between MS and control group in Kazakhs(both P<0.05).(4) Carrying rs3856806T, rs12490265A, rs1797912C, rs1175543G was 0.267 times that of carrying rs3856806C, rs12490265G, rs1797912A, rs1175543A.Conclusions The PPARγgene rs3856806, rs12490265, rs1797912 and rs1175543 polymorphisms were associated with metabolic syndrome in Kazakhs.There were very strong linkage disequilibrium between PPARγgene rs1797912 and rs1175543, rs12490265 and rs1175543 polymorphisms, The AGCC haplotype and GAAT haplotype may serve as protective factors of metabolic syndrome.Carrying rs3856806T, rs12490265A, rs1797912C, and rs1175543G may confer lower risk of MS in Kazakhs.

OBJECTIVEClostridium difficile is an obligate anaerobic Gram-positive bacillus, it can cause Clostridium difficile-associated diarrhea (CDAD). This study aimed to investigate the virulence genes and clinical features of CDAD in children by gene detection.

METHODFrom May 2012 to January 2013, the 121 inpatients in Beijing Children's Hospital who suffered from diarrhea after antibiotics treatment were detected for Clostridium difficile virulence genes including the five genes for pathogenic loci (tcdA, tcdB, tcdC, tcdD, tcdE) and the genes for binary toxin CDT (cdtA and cdtB) using polymerase chain reaction (PCR) in order to research the clinical features of CDAD, and analyze target products by sequencing.

RESULTSIn the 121 children with diarrhea, 60 (49.6%) were toxin B-positive,including 12 toxin A-positive and toxin B-positive (A+B+), 48 toxin A-negative but toxin B-positive (A-B+). The toxin A-positive but toxin B-negative (A+B-) specimens or binary toxin (cdtA and cdtB)-positive specimens were not detected. Of 60 tcdB-positive specimens, tcdC, tcdD and tcdE positive specimens were 24 (40%), 25 (42%), 24 (40%), respectively. The sequencing results of tcdA, tcdB, tcdC, tcdD, and tcdE gene were consistent with the reference sequence. In the 60 children with CDAD, infants (≤3 years) accounted for 62% (37/60). The duration of diarrhea was 3-77 days, and 42 (70%) cases had acute diarrhea; 39 (65%) patients had fever, 40 (67%) had anemia, 36 (60%) had abnormal white blood cell count, 30 (50%) had hypoalbuminemia, 25 (42%) had elevated C-reactive protein (CRP). The level of CRP in positive group was significantly higher compared to the negative group (45.0(16.0,89.0) mg/L vs. 19.0(14.5,41.5) mg/L, Z=-2.008, P=0.045). The level of plasma albumin in positive group was significantly lower compared to the negative group (35.3(29.7,39.8) g/L vs. 38.5(33.9,41.5) g/L, Z=-2.610, P=0.009). There were no significant differences in gender, age, duration of diarrhea, hospital staytime, time of using antibiotics and laboratory test between A+B+ group and A-B+ group (all P>0.05).

CONCLUSIONThe main virulence genotype of Clostridium difficile was toxin A-negative but toxin B-positive in this research. The clinical features of CDAD in children were acute diarrhea with fever. Laboratory examination showed that white blood cell count was abnormal, CRP was increased, hemoglobin and plasma albumin were reduced.

Anti-Bacterial Agents ; Bacterial Toxins ; genetics ; Beijing ; C-Reactive Protein ; Child ; Clostridium Infections ; microbiology ; Clostridium difficile ; genetics ; pathogenicity ; Diarrhea ; microbiology ; Fever ; Genes, Bacterial ; Genotype ; Humans ; Infant ; Leukocyte Count ; Polymerase Chain Reaction ; Virulence ; genetics