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1.
Chinese Journal of Digestive Endoscopy ; (12): 444-448, 2023.
Article in Chinese | WPRIM | ID: wpr-995401

ABSTRACT

Objectives:To investigate the clinical value of endoscopy and mucosal histology for digestive tract diseases in infants.Methods:Clinical data of 357 infants who underwent 422 gastrointestinal endoscopies from January 2010 to December 2021 were collected. The indications, endoscopic manifestations, histological features of mucosa and diagnosis were analyzed.Results:A total of 159 gastroscopies and 263 colonoscopies were performed. Diarrhea (185 cases), bloody stool (178 cases) and vomiting (46 cases) were common symptoms. Endoscopy showed manifestations including non-specific inflammatory changes (265 cases), ulcer-like changes (72 cases), and normal mucusa (48 cases). A total of 373 biopsies were performed, including 260 cases of abnormal mucosal histology, 109 cases of normal mucosal histology, and 4 cases of too small biopsy specimens for analysis. Diagnoses were 208 cases of anaphylactic disease, 45 cases of inflammatory bowel disease, 15 cases of variation of structure, 10 cases of intestinal lymphangiectasis, 2 cases of autoimmune enteropathy, and 1 case of celiac disease. There was only 1 colonic perforation complicating endoscopy in terms of endoscopic complication.Conclusions:It is safe and effective to perform endoscopy standardly for digestive tract diseases in infants. Endoscopy with biopsies is a greatly informative test for diagnosis in infants.

2.
Chinese Journal of General Practitioners ; (6): 839-843, 2023.
Article in Chinese | WPRIM | ID: wpr-994775

ABSTRACT

Objective:To analyze the clinical characteristics and genetic variants of children with hepatic Wilson disease (WD).Methods:The clinical data and genetic test results of 35 children, who were diagnosed as WD with primary hepatic manifestation in the Department of Gastroenterology, Children′s Hospital of Capital Institute of Pediatrics from March 2018 to March 2022, were retrospectively analyzed. The relationship between phenotype and genotype of patients was analyzed.Results:Among 35 children, there were 24 males and 11 females with a median age at diagnosis of 5.5 (4.0, 7.5) years. All patients had elevated transaminases. The elevated transaminases was found during routine physical examination in 33 cases (94.3%), in whom there was no fever, cough, recurrent vomiting, abdominal pain, diarrhea, jaundice, limb tremor, gait instability and other discomfort 2 weeks before admission, except 1 case with nausea; abdominal ultrasonography showed that 5 cases (15.2%) had no abnormality, and others had different degrees of hepatomegaly, splenomegaly, and echo enhancement in liver parenchyma. Among the remaining 2 cases, one 11-year-old child presented with edema, and had cirrhosis portal hypertension with esophageal varices; another 7-year-old child was diagnosed as acute liver failure manifested with nausea and jaundice. Thirty three patients(94.3%)had decreased serum ceruloplasmin levels (<100 mg/L); 24-h urinary copper concentration was>100 μg in 16 cases (45.7%) and<40 μg in 2 cases (5.7%). The tests of hepatitis B virus, hepatitis C virus, cytomegalovirus and EB virus were all negative in 35 children, and the autoimmune hepatitis antibodies were also negative. A total of 34 different ATP7B gene mutations were detected; the most frequent mutation was c.2333G>T (P.R778L) at exon 8, followed by c.2621C>T(p.A874V)at exon 11 and c.2621C>T(p.A874V)at exon 13. There was no significant difference in clinical phenotype between patients with nonsense mutation, frameshift mutation or splicing mutation and those with only missense mutations( Z=-1.00, t=-0.16, Z=-1.14, Z=-1.03,all P>0.05). Conclusions:The onset of WD in children is obscure, and clinicians should consider this disease in patients presenting with elevated transaminase. Ceruloplasmin and urine copper should be tested timely, the early diagnosis and treatment can improve the prognosis. And there is no significant correlation between genotype and clinical phenotype.

3.
Chinese Journal of General Practitioners ; (6): 603-607, 2023.
Article in Chinese | WPRIM | ID: wpr-994747

ABSTRACT

Objective:To investigate the factors related to gastroesophageal reflux disease (GERD) in children.Methods:Clinical data of 370 children who underwent 24h multi-channel impedance-pH monitoring (24h MII-pH) in Children′s Hospital Affiliated to Capital Institute of Pediatrics from January 2015 to December 2020 were enrolled in the study. The children were divided into GERD group ( n=202)and non-GERD group ( n=168) according to results of 24h MII-pH. The relationship of sex, age, body mass index (BMI), disease course, peripheral blood eosinophils count, IgE, Helicobacter pylori (Hp) infection, hiatus hernia of patients with GERD was analyzed by univariate and multivariate logistic regression analysis. Results:In GERD group 124 were males and 78 were females with a mean age of (6.4±4.1) years (2 months to 16.75 years), and in non-GERD group 82 were males and 86 were females with a mean age of (8.0±3.5) years (10 months to 15.17 years). Univariate logistic regression analysis showed that sex( OR=0.600,95% CI:0.396-0.908, P=0.016), age ( OR=0.537,95% CI:0.412-0.699, P<0.001)and hiatus hernia( OR=7.433,95% CI:2.567-21.520, P<0.001)were significantly associated with GERD of the children. Multivariate analysis showed that hiatus hernia ( OR=4.023,95% CI:1.298-12.470, P=0.016) was the independent risk factor, while male gender ( OR=0.567,95% CI:0.367-0.874, P=0.010) and younger age ( OR=0.613, 95%CI:0.459-0.819, P=0.001 ) were related factors of gastroesophageal reflux disease in children. Conclusion:Sex, age, and hiatal hernia are factors related to GERD in children.

4.
Chinese Pediatric Emergency Medicine ; (12): 994-997, 2022.
Article in Chinese | WPRIM | ID: wpr-990464

ABSTRACT

Objective:To investigate the clinical characteristics of hepatitis-associated aplastic anaemia(HAAA)in children.Methods:A retrospective analysis was performed on the clinical manifestations, laboratory examinations, treatments and other clinical data of five children with aplastic anemia(AA)diagnosed by bone marrow examination after admission with acute liver dysfunction admitted to the Department of Gastroenterology, Children′s Hospital Affiliated to Capital Institute of Pediatrics from January 2016 to December 2020.Results:All five children were boys and the onset age of these children ranged from 2 to 13 years.All of the five cases were acute onset and presented with jaundice.The time frame of the diagnosis of HAAA was 0 to 12 weeks from the presentation of the liver disease.One patient had simultaneous onset of hepatitis and aplastic anemia.The liver function was significantly improved at the diagnosis of HAAA in three patients and worsen in one patient.Only one patient showed CMV-DNA positive and the pathogen results of other patients were negative.Lymphocyte immunity disorders were found in all five patients, and the proportion of inhibitory/cytotoxic T lymphocytes(CD3 + CD8 + ) increased.Two children received hematopoietic stem cell transplantation, of which one died and one improved after transplantation.One child improved after treated with antithymocyteglobulin and cyclosporin.One child died due to severe infection.There was no significant improvement in one child treated with cyclosporine. Conclusion:HAAA should be alerted in acute hepatitis patients.Blood routine should be monitored even if liver function improves.Bone marrow tests are needed if patients have peripheral cytopenia in two or more lineages.Early and timely treatments with immunosuppressive therapy and hematopoietic stem cell transplantation can improve the prognosis.

5.
Chinese Journal of Medical Genetics ; (6): 139-142, 2022.
Article in Chinese | WPRIM | ID: wpr-928376

ABSTRACT

OBJECTIVE@#To explore the characteristics of SLC25A13 gene variants in 16 infants with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD).@*METHODS@#The infants were subjected to high-throughput DNA sequencing for coding exons and flanking regions of the target genes. Suspected variants were verified by Sanger sequencing and bioinformatic analysis.@*RESULTS@#Among the 16 NICCD cases, 15 were found to harbor pathogenic variants. Among these, IVS14-9A>G, c.1640G>A, c.762T>A, c.736delG, c.1098Tdel and c.851G>A were previously unreported.@*CONCLUSION@#Six novel SLC25A13 variants were found by high-throughput sequencing, which has enriched the spectrum of SLC25A13 gene variants and provided a basis for genetic counseling and prenatal diagnosis.


Subject(s)
Humans , Infant , Infant, Newborn , Calcium-Binding Proteins/genetics , Cholestasis, Intrahepatic/genetics , Citrullinemia/genetics , Mitochondrial Membrane Transport Proteins/genetics , Mutation , Organic Anion Transporters/genetics , Protein Deficiency
6.
Chinese Journal of Applied Clinical Pediatrics ; (24): 205-209, 2022.
Article in Chinese | WPRIM | ID: wpr-930402

ABSTRACT

Objective:To investigate the clinical and genetic characteristics of genetic and metabolic infantile cholestatic hepatopathy (ICH), and to provide evidence for its diagnosis and treatment.Methods:Clinical data and follow-up outcomes of hospitalized children diagnosed with ICH in the Department of Gastroenterology, Children′s Hospital, Capital Institute of Pediatrics from January 2014 to December 2019 were retrospectively analyzed.Among the 80 children, 27 were female and 53 were male, with a mean age of onset of (39±18) days old.Children with confirmed etiology by high-throughput sequencing analysis were included in the genetic metabolic group (44 cases), and those with idiopathic neonatal cholestasis(INC) of unknown etiology after the systematic examination were included in the INC group (36 cases). The t-test or independent sample rank sum test was used to compare the laboratory test results and biochemical indexes.The infection rate of cytomegalovirus was compared by the Chi- square test. Results:(1) A total of 80 cases were included, and 44 cases (55.0%)were confirmed as INC by high-throughput sequencing.Among those with a positive molecular diagnosis, there were 23 cases of citrin deficiency (CD), 10 cases of Alagille syndrome (ALGS), 6 cases of progressive familial intrahepatic cholestasis (PFIC), 2 cases of congenital bile acid synthesis defect, 2 cases of Nieman Pick disease, and 1 case of cystic fibrosis.(2) Serum total bile acid (TBA) and activated partial prothrombin time (APTT) levels in the genetic metabolic group were significantly higher than those in the INC group (all P<0.05). TBA and APTT levels in genetic metabolites were 180.6 (115.5, 271.6) μmol/L and 40.6 (37.1, 45.2) s, respectively, which were 123.3 (98.8, 163.4) μmol/L and 34.8 (31.7, 40.1) s in INC group, respectively.There was no significant difference in the cytomegalovirus infection rate between the 2 groups ( P>0.05). (3)The pathological examination of liver tissue in the genetic metabolic group was worse than that in the INC group, with spot-like and fusion focal-like necrosis, and 5 cases (4 cases of ALGS and 1 case of CD) showed a reduced number of bile ducts in the portal area and lumen stenosis. Conclusions:CD, ALGS and PFIC are the common causes of genetic and metabolic ICH.Fundamental cause of cholestasis should be actively examined in children with cytomegalovirus infection.High-throughput sequencing is of great significance in the accurate diagnosis of ICH.

7.
Chinese Pediatric Emergency Medicine ; (12): 631-634, 2022.
Article in Chinese | WPRIM | ID: wpr-955108

ABSTRACT

Objective:To explore the clinical characteristics of children with pancreatitis, aiming to analyze the clinical differences of acute pancreatitis(AP), recurrent acute pancreatitis(RAP)and chronic pancreatitis(CP)in children.Methods:The clinical characteristics of AP, RAP, CP in children admitted to the Department of Gastroenterology at Children′s Hospital Affiliated to Capital Institute of Pediatrics from January 2015 to December 2020 were analyzed.Results:One hundred and nine cases were included in this study, including 69 cases of AP(63.3%), 22 cases of RAP(20.2%)and 18 cases of CP(16.5%). The proportion of school-age and adolescent children was 48.6% and 29.4%, and there was statistical difference between the composition of children at different ages( P<0.001). Idiopathic was the main cause of AP, RAP and CP.The other causes included biliary, viral infection, structural abnormalities, drug-induced, hypercholesterolemia and heredity.97.2%(106 cases)of the children were accompanied by abdominal pain, mainly in middle and upper abdomen(75 cases, 70.8%)and around umbilical cord(22 cases, 20.8%). The pancreatic enlargement in preschool children was mainly diffuse enlargement(11/12), while the older children with local enlargement and diffuse enlargement accounted for the same proportion, the difference was statistically significant( P=0.037). The height score of CP children was lower than the overall average of the population(0 score), and lower than those of AP and RAP children, with statistically significant difference[-0.65(-1.57, 0.25) vs.0.36(-1.03, 1.05) and -0.09(-0.30, 0.41), H=6.021, P=0.044]. Eight (11.6%) cases with AP progressed to RAP, and six (8.7%) cases with AP progressed to CP. Conclusion:Pancreatitis tends to occur in school-age and adolescent children, and idiopathic is the first cause of all types of pancreatitis.AP, RAP, and CP share common features of pancreatitis in terms of etiology composition and clinical manifestations.Compared with AP and RAP, CP is more likely to affect the growth and development of children.Some children with AP could progress to RAP or CP, so we should pay more attention to the etiological investigation of AP and eliminate the etiological factors in time to avoid the disease progression.

8.
Chinese Pediatric Emergency Medicine ; (12): 951-954, 2021.
Article in Chinese | WPRIM | ID: wpr-908398

ABSTRACT

Objective:To investigate the clinical characteristics and non-infective etiological characteristics of children with lower gastrointestinal bleeding(LGIB), and to explore the application value of electronic colonoscopy in diagnosis and treatment of LGIB.Methods:A total of 311 cases of children with LGIB admitted to our hospital from June 2016 to June 2020 were analyzed retrospectively, and the relevant clinical data were summarized.Results:The ratio of boys to girls was 1.46∶1.The average age was(4.67±3.99)years old.Preschool children account for 67.85%.A total of 97.75% of the children had bloody stool with naked eyes, mainly with simple bloody stool.The main accompanying symptoms were abdominal pain(31.19%)and diarrhea(24.11%). The positive rate of occult blood test was 55.26%, and the positive rate of colonoscopy was 86.49%.The common causes of LGIB in children were intestinal polyps, colitis, inflammatory bowel disease, allergic colitis, allergic purpura and Meckel′s diverticulum.There were statistical differences in the number of cases of some etiology at different age stages, including colon polyps( P<0.001), colitis( P=0.020), ulcerative colitis( P<0.001), allergic colitis( P<0.001), Henoch-Schonlein purpura( P=0.031)and Behcet′s disease( P=0.033). Allergic colitis was more common in 1~6 months old, and the incidence rate gradually decreased with age.Inflammatory bowel disease was the primary cause of children aged 11~16 years.All children′s bleeding symptoms disappeared after treatment and the occult blood test was negative.The cure rate was 41.80% (130 cases) and the improvement rate was 58.20% (181 cases). Conclusion:The etiology of LGIB in children is complex, and the etiology is related to the age of onset.Intestinal polyps and colitis are the main causes of the disease, which are common in all ages.Colonoscopy is safe and efficient, playing an important role in the diagnosis and treatment of children with LGIB.

9.
Journal of Clinical Hepatology ; (12): 1158-1163., 2021.
Article in Chinese | WPRIM | ID: wpr-876663

ABSTRACT

ObjectiveTo investigate the clinical features and gene mutation characteristics of neonatal intrahepatic cholestasis caused citrin deficiency (NICCD) in northern China. MethodsA total of 23 pediatric patients in northern China who were diagnosed with NICCD by blood tandem mass spectrometry and/or gene detection in Department of Gastroenterology, Children’s Hospital Affiliated to Capital Institute of Pediatrics, from January 2015 to December 2018 were enrolled as NICCD group, and 36 pediatric patients with idiopathic neonatal cholestasis (INC) who had unclarified etiology after a series of examinations during the same period of time were enrolled as INC group. A retrospective analysis was performed for the clinical manifestation, laboratory examination, pathology, blood/urine metabolic screening, and gene sequencing results of the pediatric patients in the NICCD group, and follow-up was performed to observe their outcome; biochemical parameters were compared between the two groups. The independent samples t-test was used for comparison of normally distributed continuous data, and the Mann-Whitney U test was used for comparison of non-normally distributed continuous data; the chi-square test was used for comparison of categorical data between groups. ResultsAmong the 23 patients in the NICCD group, 10 had hypoglycemia, 13 had hypoalbuminemia, 17 had hyperammonemia, and 15 had hyperlactacidemia; 15 had an increase in low-density lipoprotein, 6 had an increase in cholesterol, and 7 had an increase in triglyceride; 17 had prolonged prothrombin time, and 16 had prolonged activated partial thromboplastin time (APTT). Compared with the INC group, the NICCD group had significantly higher gamma-glutamyl transpeptidase (GGT), total bile acid (TBA), and APTT and a significantly lower albumin (Alb) level (Z=-2.487, Z=-3.528, t=3.532, t=-2.24, all P<0.05). For the patients with NICCD, blood tandem mass spectrometry showed that the most common abnormalities were the increased levels of arginine, citrulline, methionine, free carnitine, and long-chain acylcarnitine, while urinary gas chromatography showed the increased levels of 4-hydroxyphenyllactic acid, galactose, galactitol, and galactonic acid. Gene detection was performed for all 23 patients and identified 16 pathogenic mutations, among which 7 were newly discovered, namely ivs14-9a>G, c1640 G>A, c.762T>A, c.736delG, c.1098 T del, c.851G>A, and c.550G>A. Except for the 2 patients who were lost to follow-up, the levels of aminotransferases and bilirubin gradually returned to normal in 21 patients after 2-6 months of treatment; none of them showed delayed growth and development after being followed up to the age of 1 year, and 2 of them developed dietary preference (they liked fish and meat and did not like staple food). ConclusionAbnormalities of blood GGT, TBA, Alb, and APTT may provide ideas for the differential diagnosis of NICCD and INC. NICCD gene mutations in northern China are heterogeneous and most patients tend to have a good prognosis.

10.
International Journal of Pediatrics ; (6): 548-551, 2020.
Article in Chinese | WPRIM | ID: wpr-863019

ABSTRACT

Cholestatic liver disease is a major liver disease in children and an important cause of death and disability in children.In recent years, the incidence rate has increased.Multiple evidences show that the gut microbiota plays an important role in the pathogenesis of cholestatic liver disease by regulating metabolism and immune responses.However, the progression of the disease may also affect the composition of the gut microbiota, thereby exacerbating the progression of cholestasis.This article focuses on the correlation between intestinal microbes and cholestasis syndrome, and reviews its research progress in the pathogenesis and treatment of cholestatic liver disease.

11.
Chinese Journal of Laboratory Medicine ; (12): 359-364, 2019.
Article in Chinese | WPRIM | ID: wpr-756436

ABSTRACT

Objective To analyze the bacterial etiology and drug resistance of pathogens from the outpatients with acute infectious diarrhea in the Children's Hospital Capital Institute of Pediatrics.Methods The children with acute infectious diarrhea in the outpatient department of our hospital were randomly enrolled in the period of August 2017 to July 2018.Enteric pathogenic bacteria were cultured and isolated from the fresh stool specimens.The serum of Salmonella spp were identified while five types of diarrheagenic Escherichia coli were detected by PCR method.Antibiotic susceptibility of Salmonella spp and diarrheagenic Escherichia coli were tested by Kirby-Bauer disk diffusion method.Chi-square or Fisher exact test was done for statistical analysis.Results Of the 356 stool specimens,103 strains of 6 pathogenic bacterial species were detected.The positive rate was 27.8% (99/356),and 2 strains were detected in four stool samples.The isolation rate of Salmonella spp,which was the highest in this study,was 10.7% (38/356).The isolation rate of Staphylococcus aureus,diarrheagenic Escherichia coli and Pseudomonas aeruginosa were 8.4% (30/356),5.6% (20/356) and 3.7% (13/356),respectively.No Shigella spp strain was isolated.Salmonella enteritidis and Salmonella typhimurium were the dominant serotype for 38 Salmonella spp stains with the isolation rate of 63.2% (24 / 38).Each 10 Enteropathogenic Escherichia coli and 10 Enteroaggregative Escherichia coli isolates were detected among the diarrheagenic Escherichia coli.Enterohemorrhagic Escherichia coli,Enteroinvasive Escherichia coli and Enterotoxigenic Escherichia colistrain was not found in this study.The resistant rates of Salmonella spp to ampicillin and ceftriaxone were 52.6% (20/38) and 13.2% (5/38),while the diarrheagenic Escherichia coli were 11/20 and 1/20,respectively.Three diarrheagenic Escherichia coli isolates produced extended spectrum beta-lactamase.Conclusions Salmonella spp was the major bacterial pathogen among the outpatients with infectious diarrhea in the hospital.The study indicated that the infection ratios of Staphylococcus aureus,diarrheagenic Escherichia coli and Pseudomonas aeruginosa increased.Shigella spp was no long the main pathogenic agent.The resistant rates of Salmonella spp and diarrheagenic Escherichia coli to ampicillin were high,but low resistant rates to ceftriaxone were found among these two kinds of bacteria.The third-generation cephalosporins should be the first choice for the treatment of childhood bacterial diarrhea.

12.
Chinese Journal of Pediatrics ; (12): 520-525, 2019.
Article in Chinese | WPRIM | ID: wpr-810684

ABSTRACT

Objective@#To analyze the clinical and genotypic characteristics of infantile inflammatory bowel disease (IBD).@*Methods@#The age of onset, family history, clinical manifestations, and treatment effect were retrospectively analyzed in 39 infants (male 23 cases, female 16 cases) with IBD who were admitted to the Department of Gastroenterology in Children′s Hospital, Capital Institute of Pediatrics from January 2007 to December 2017. Next generation sequencing (NGS) based on target gene panel was used for gene analysis in 17 patients.@*Results@#The median age of onset was 0.5 (0.5, 1.0) month. The most common clinical symptoms included diarrhea (39, 100%), malnutrition (38, 97%), hematochezia (34, 87%), fever (25, 64%), and perianal diseases (24, 61%). Four children had associated family history. Among the 17 patients whose gene was analyzed, 10 were found to have the pathogenic gene variation, within whom 7 had interleukin-10 receptor α subunit (IL-10RA) mutation, 2 had CYBB heterozygous mutation, 1 had interleukin-10 receptor β subunit (IL-10RB) mutation. The therapeutic medicine included mesalazine, steroids, and thalidomide. Eighteen children (46%) reached clinical remission (10 cases) or partial remission (8 cases).@*Conclusions@#The incidence of single gene mutation in infants with IBD is high, with IL-10RA mutation as the most common. Refractory diarrhea and malnutrition may indicate infantile IBD.

13.
Chinese Journal of Behavioral Medicine and Brain Science ; (12): 898-902, 2019.
Article in Chinese | WPRIM | ID: wpr-796983

ABSTRACT

Objective@#To explore the perception and evaluation of patients with somatic symptom disorder about their own diseases and treatment, and to provide theoretical basis for design of illness perception questionnaire for patients with somatic symptoms disorder.@*Methods@#A semi-structured interview was conducted among 15 initial and untreated patients with somatic symptom disorder using the descriptive qualitative study. The data were sorted, encoded, classified, summarized and refined using MAXQDA10 software.@*Results@#Three main themes and six sub-themes of illness perception in patients with somatic symptom disorder were analyzed and sorted out: (1) symptom recognition: including three sub-themes, low understanding of the disease and denial of somatic symptoms as mental illness; (2)drug taking concerns: including two sub-themes worrying about side effects of drugs, drug addiction and having difficulty to stick to the long-term regular medication; (3)emotional reaction: including the obvious negative emotions of depression and helplessness sub-theme.@*Conclusion@#Patients with somatic symptom disorder have a general bias in illness perception, which has a potential adverse effect on treatment compliance. Therefore, it is necessary for clinical medical staff to early estimate patients’illness perception, and carry out mental health education and rational emotional behavior therapy.

14.
Chinese Journal of Behavioral Medicine and Brain Science ; (12): 898-902, 2019.
Article in Chinese | WPRIM | ID: wpr-791122

ABSTRACT

Objective To explore the perception and evaluation of patients with somatic symptom disorder about their own diseases and treatment,and to provide theoretical basis for design of illness percep-tion questionnaire for patients with somatic symptoms disorder. Methods A semi-structured interview was conducted among 15 initial and untreated patients with somatic symptom disorder using the descriptive quali-tative study. The data were sorted,encoded,classified,summarized and refined using MAXQDA10 software. Results Three main themes and six sub-themes of illness perception in patients with somatic symptom dis-order were analyzed and sorted out:(1) symptom recognition:including three sub-themes,low understanding of the disease and denial of somatic symptoms as mental illness;(2)drug taking concerns:including two sub-themes worrying about side effects of drugs,drug addiction and having difficulty to stick to the long-term reg-ular medication;(3)emotional reaction:including the obvious negative emotions of depression and helpless-ness sub-theme. Conclusion Patients with somatic symptom disorder have a general bias in illness percep-tion,which has a potential adverse effect on treatment compliance. Therefore,it is necessary for clinical med-ical staff to early estimate patients’illness perception,and carry out mental health education and rational e-motional behavior therapy.

15.
Chinese Journal of Pediatrics ; (12): 753-758, 2018.
Article in Chinese | WPRIM | ID: wpr-810209

ABSTRACT

Objective@#To analyze the clinical features and interleukin-10 receptor gene mutations in six infants with very early onset inflammatory bowel disease (VEO-IBD).@*Methods@#Four girls and two boys with VEO-IBD admitted to Children's Hospital Affiliated to Capital Institute of Pediatrics from June 2016 to September 2017 were reviewed. The clinical data including general condition, clinical symptoms, laboratory tests, and colonoscopy and pathological results were collected and analyzed. Interleukin-10 receptor α subunit (IL-10RA) gene was examined in all patients.@*Results@#Persistent diarrhea and fever were the most common symptoms and were found within 1 month after birth in all 6 patients. Anemia, oral ulcer or perianal lesions and growth retardation were common concomitant symptoms. All patients had colonoscopy examination and the results showed multiple ulcers affecting the colon with biopsies revealing acute and chronic inflammation. Three patients were found to have cryptitis and crypt abscesses. Gene sequencing revealed IL-10RA gene mutations in all six patients, including 3 cases with homozygous mutations (one with c.537G>A and two with c.301C>T) and 3 heterozygous mutations (paternal c.301C>T in all cases; maternal c.299T>G, c.350G>A and c.537G>A, respectively) . After conventional treatment, one got clinical and pathological improvement according to colonoscopy, three improved clinically, one worsened and died, and one died of septic shock secondary to intestinal perforation.@*Conclusions@#VEO-IBD is associated with IL-10RA mutation, usually with severe intestinal symptoms and significant extra-intestinal symptoms, as well as varied responses to conventional treatment. In our study, c.301C>T and c.537G>A are the most common mutations.

16.
Journal of Clinical Pediatrics ; (12): 729-732, 2017.
Article in Chinese | WPRIM | ID: wpr-661042

ABSTRACT

Objective To explore the diagnosis and treatment of celiac disease in children. Method The clinical data of 2 children with celiac disease were analyzed retrospectively. Results Both of them were 8-year and 2-year-old males. Chronic diarrhea and malnutrition were the main manifestations combined with anemia and hypoalbuminemia in both of them. The examinations showed that stool Sultan III staining, anti-endometrial antibody IgA, and anti-gliadin IgA were all positive. Endoscopic examination revealed mucosal lesions in duodenal and small bowel. Pathology showed small intestinal villus atrophy, infiltration of lymphocytes in crypt epithelium, and infiltration of lymphocytes and plasma cells in the lamina propria. Diarrhea was quickly improved in both of them after the gluten diet was avoided, and weight increased significantly. However, one of them failed to maintain a gluten free diet and diarrhea recurred. Conclusions The celiac disease in children is rare in China. It needs to have early diagnosis and treatment, and should be strictly followed by a lifelong gluten free diet.

17.
Chongqing Medicine ; (36): 3180-3183, 2017.
Article in Chinese | WPRIM | ID: wpr-610734

ABSTRACT

Objective To investigate the effect of ANX A1 on the biological characteristics of papillary thyroid carcinom cells by interfering with the expression of Annexina A1 (ANX A1) in papillary thyroid carcinoma cells through small interfering RNAs (siRNA).Methods The designed highly efficient siRNA was used to conduct the specific interfence on ANXA1 expression in the papillary thyroid carcinoma TPC-1 cells.The effect of ANXA1 on TPC-1 apoptosis in PTC was observed by flow cytometry.Results The designed siRAN could efficiently inhibit the expression of ANXA1 mRNA in PTC,enhanced the cell apoptosis in TPC-1 cells in vitro.Conclusion siRNA can interfere with the expression of ANXA1 and promote the apoptosis of papillary thyroid carcinoma which suggesting that ANXA1 may be an important biological target for the treatment of papillary thyroid carcinoma.

18.
Journal of Clinical Pediatrics ; (12): 729-732, 2017.
Article in Chinese | WPRIM | ID: wpr-658207

ABSTRACT

Objective To explore the diagnosis and treatment of celiac disease in children. Method The clinical data of 2 children with celiac disease were analyzed retrospectively. Results Both of them were 8-year and 2-year-old males. Chronic diarrhea and malnutrition were the main manifestations combined with anemia and hypoalbuminemia in both of them. The examinations showed that stool Sultan III staining, anti-endometrial antibody IgA, and anti-gliadin IgA were all positive. Endoscopic examination revealed mucosal lesions in duodenal and small bowel. Pathology showed small intestinal villus atrophy, infiltration of lymphocytes in crypt epithelium, and infiltration of lymphocytes and plasma cells in the lamina propria. Diarrhea was quickly improved in both of them after the gluten diet was avoided, and weight increased significantly. However, one of them failed to maintain a gluten free diet and diarrhea recurred. Conclusions The celiac disease in children is rare in China. It needs to have early diagnosis and treatment, and should be strictly followed by a lifelong gluten free diet.

19.
Journal of Clinical Pediatrics ; (12): 853-856, 2015.
Article in Chinese | WPRIM | ID: wpr-477576

ABSTRACT

ObjectiveTo analyze clinical manifestations and treatment of eosinophilic gastroenteritis (EGE) in children.MethodsThe clinical data of 10 children with EGE under the treatment from June 2014 to June 2012 were analyzed retrospectively.ResultsThere were 10 children (6 males and 4 females) aged from 9 months to 14 years. Clin-ical symptoms of eight preschool and school age children included abdominal pain (8 cases), vomiting (4 cases), diarrhea (3 cases), ascites (3 cases), rash (3 cases), fever (2 cases) and hypoalbuminemia (2 cases). Clinical symptoms of two in-fant and toddler were diarrhea and hematochezia. Peripheral blood eosinophils were increased in 10 children. IgE was elevated in 9 children. One child had very high C-reactive protein. Endoscopic examination showed mucosal congestion, swelling, erythema, erosion. Multiple sites of biopsy showed eosinophil count> 20/HP. One child was diagnosed by lap-aroscopic exploration. The treatment included diet avoidance, omeprazole, anti-allergic drug. Four children were treated with corticosteroids. All children had been followed up for 6 months to 2 years. One child had relapsed.Conclusion The clinical manifestations of EGE are various. Endoscopic biopsy is necessary for diagnosis. Laparoscopy also is help-ful for diagnosis. Dietary and glucocorticoid therapy were effective.

20.
Chongqing Medicine ; (36): 3488-3490, 2015.
Article in Chinese | WPRIM | ID: wpr-482667

ABSTRACT

Objective To explore the correlations between Annexin A1 protein expression and clinicopathological character-istics in carcinoma of papillary thyroid.Methods The different expressions of annexin A1 in papillary thyroid tissue and para-cari-noma tissue were investigated by immunohistochemistry.Results Among 69 samples tissues of papillary thyriod carcinoma,the positive rate of annexin A1 was higher than that of 69 para-carcinoma tissues(88.41%vs .8.69%),there was a significant difference (P <0.05).Furthermore,the expression of annexin A1 was correlation with the lymph node metastasis and tumor size,which was higher in ≥1 cm diameter of tumor(P <0.05).Conclusion High AnnexinA1 positive expression in papillary thyroid cancer tissues is associated with tumor malignant progression,which might be a valuable predictor and potential target for the diagnosis and treat-ment of papillary thyroid carcinoma.

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