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1.
Case Rep Pediatr ; 2018: 4375434, 2018.
Article in English | MEDLINE | ID: mdl-29527374

ABSTRACT

Lysosomal acid lipase (LAL) deficiency is an autosomal recessive lysosomal storage disorder caused by mutations in the LIPA gene that leads to premature organ damage and mortality. We present retrospective data from medical records of 5 Brazilian patients, showing the broad clinical spectrum of the disease.

2.
Arq. gastroenterol ; 54(4): 281-285, Oct.-Dec. 2017. tab, graf
Article in English | LILACS | ID: biblio-888227

ABSTRACT

ABSTRACT BACKGROUND: Eosinophilic esophagitis is an emerging disease featured by eosinophilic esophageal infiltrate not responsive to proton pump inhibitors. OBJECTIVE: To characterize histological features of children and adolescents with eosinophilic esophagitis. METHODS: Cross-sectional study in a tertiary hospital. Biopsies from each esophageal third from 14 patients (median age 7 years) with eosinophilic esophagitis were evaluated. Histological features evaluated included morphometry of esophageal epithelium, esophageal density (per high power field), extracellular eosinophilic granules, eosinophilic microabscesses, surface disposition of eosinophils, epithelial desquamation, peripapillary eosinophilia, basal layer hyperplasia and papillary elongation. RESULTS: Several patients presented a normal esophageal macroscopy in the upper digestive endoscopy (6, 42.8%), and the most common abnormality were vertical lines (7, 50%) and whitish spots over esophageal mucosa (7, 50%). Basal layer hyperplasia was observed in 88.8%, 100% e 80% of biopsies from proximal, middle and lower esophagus, respectively (P=0.22). Esophageal density ranges from 0 to more than 50 per hpf. Extracellular eosinophilic granules (70%-100%), surface disposition of eosinophils (60%-93%), epithelial desquamation (60%-100%), peripapillary eosinophilia (70%-80%) were common, but evenly distributed among each esophageal third. Just one patient did not present eosinophils in the lower third, four in the middle third and four in the upper esophageal third. CONCLUSION: In the absence of hypereosinophilia, other histological features are present in eosinophilic esophagitis and may contribute to diagnosis. Eosinophilic infiltrate is focal, therefore multiple biopsies are needed for diagnosis.


RESUMO CONTEXTO: Esofagite eosinofílica é uma doença emergente caracterizada por infiltrado eosinofílico esofágico não responsivo a inibidores de bomba de prótons. OBJETIVO: Caracterizar os achados histopatológicos de uma coorte de crianças e adolescentes com diagnóstico de esofagite eosinofílica. MÉTODOS: Estudo transversal conduzido em hospital terciário. Biópsias de terços proximal, médio e distal de 14 pacientes (idade mediana 7 anos) com diagnóstico de esofagite eosinofílica. Estudo morfométrico e variáveis histológicas analisadas em fragmentos de biópsias nos terços esofágicos: contagem de eosinófilos/CGA, grânulos eosinofílicos extracelulares, microabscessos eosinofílicos, disposição superficial de eosinófilos, descamação epitelial, eosinofilia peripapilar, hiperplasia da camada basal e alongamento de papilas. RESULTADOS: Vários pacientes apresentaram aspecto macroscópico normal da mucosa esofágica à endoscopia (6, 42.8%), e a anormalidade mais comumente observada foi linhas verticais (7, 50%) e exsudato branco (7, 50%). Hiperplasia da camada basal foi observada em 88,8%, 100% e 80% das biópsias do terço proximal, médio e distal respectivamente (P=0,22); contagem de eosinófilos nos terços variou de 0 a ≥50/CGA, grânulos eosinofílicos extracelulares (70%-100%), disposição superficial de eosinófilos (60%-93%), descamação epitelial (60%-100%), eosinofilia peripapilar (70%-80%), sem diferença estatística entre os terços esofágicos. Ausência de eosinofilia ocorreu raramente em terço distal (uma do distal, quatro do proximal, quatro do médio). CONCLUSÃO: Na ausência de hipereosinofilia, outros achados histopatológicos de inflamação eosinofílica estão presentes. A infiltração eosinofílica apresentou caráter focal, sugerindo-se a realização de múltiplas biópsias de diversos segmentos.


Subject(s)
Humans , Male , Female , Infant , Child, Preschool , Child , Adolescent , Esophagus/pathology , Eosinophilic Esophagitis/pathology , Biopsy , Cross-Sectional Studies , Prospective Studies
3.
Arq Gastroenterol ; 54(4): 281-285, 2017 Dec.
Article in English | MEDLINE | ID: mdl-28954044

ABSTRACT

BACKGROUND: Eosinophilic esophagitis is an emerging disease featured by eosinophilic esophageal infiltrate not responsive to proton pump inhibitors. OBJECTIVE: To characterize histological features of children and adolescents with eosinophilic esophagitis. METHODS: Cross-sectional study in a tertiary hospital. Biopsies from each esophageal third from 14 patients (median age 7 years) with eosinophilic esophagitis were evaluated. Histological features evaluated included morphometry of esophageal epithelium, esophageal density (per high power field), extracellular eosinophilic granules, eosinophilic microabscesses, surface disposition of eosinophils, epithelial desquamation, peripapillary eosinophilia, basal layer hyperplasia and papillary elongation. RESULTS: Several patients presented a normal esophageal macroscopy in the upper digestive endoscopy (6, 42.8%), and the most common abnormality were vertical lines (7, 50%) and whitish spots over esophageal mucosa (7, 50%). Basal layer hyperplasia was observed in 88.8%, 100% e 80% of biopsies from proximal, middle and lower esophagus, respectively (P=0.22). Esophageal density ranges from 0 to more than 50 per hpf. Extracellular eosinophilic granules (70%-100%), surface disposition of eosinophils (60%-93%), epithelial desquamation (60%-100%), peripapillary eosinophilia (70%-80%) were common, but evenly distributed among each esophageal third. Just one patient did not present eosinophils in the lower third, four in the middle third and four in the upper esophageal third. CONCLUSION: In the absence of hypereosinophilia, other histological features are present in eosinophilic esophagitis and may contribute to diagnosis. Eosinophilic infiltrate is focal, therefore multiple biopsies are needed for diagnosis.


Subject(s)
Eosinophilic Esophagitis/pathology , Esophagus/pathology , Adolescent , Biopsy , Child , Child, Preschool , Cross-Sectional Studies , Female , Humans , Infant , Male , Prospective Studies
4.
Clin Immunol ; 156(2): 131-40, 2015 Feb.
Article in English | MEDLINE | ID: mdl-25546394

ABSTRACT

Early-life autoimmunity is an IPEX characteristic, however intrauterine forms had not yet been described. Here, two unrelated families with clear evidence of fetal-onset IPEX are reported. One had 5 miscarriages of males in two generations, and a newborn presenting type-1 diabetes mellitus immediately after birth, diarrhea, thrombocytopenia, eczematous dermatitis, eosinophilia, high IgE levels and autoantibodies to pancreatic islet antigens at 4-days-old. Maternal serology was negative. He presented a FOXP3 mutation, c.1189C>T, p.Arg397Trp, previously described only in another family with IPEX at birth. The second family had several miscarriages of males in three consecutive generations and a novel FOXP3 c.319_320delTC mutation was observed in two miscarried monochorionic twin male fetuses. These twins died at 21weeks of gestation due to hydrops, and CD3+ infiltrating lymphocytes were found in their pancreas. We demonstrate that: i) IPEX may develop in fetal life; and ii) c.1189C>T and c.319_320delTC mutations are associated with early-onset phenotype.


Subject(s)
Autoimmune Diseases/genetics , Fetal Diseases/genetics , Forkhead Transcription Factors/genetics , T-Lymphocytes, Regulatory/immunology , Autoimmune Diseases/immunology , Autoimmunity/genetics , Autoimmunity/immunology , Base Sequence , Diabetes Mellitus, Type 1/congenital , Diarrhea , Fetal Diseases/immunology , Genetic Diseases, X-Linked/genetics , Genetic Diseases, X-Linked/immunology , Genetic Diseases, X-Linked/mortality , Humans , Immune System Diseases/congenital , Infant, Newborn , Male , Mutation , Pedigree , Polymorphism, Single Nucleotide , Sequence Analysis, DNA
5.
J Pediatr Gastroenterol Nutr ; 57(5): 607-11, 2013 Nov.
Article in English | MEDLINE | ID: mdl-23783010

ABSTRACT

OBJECTIVE: The aim of this study was to evaluate the accuracy of reduced-dose ¹³C-urea breath test (¹³C-UBT) and early sampling of exhaled breath for the detection of Helicobacter pylori infection in children and adolescents. METHODS: Patients up to 20 years old that underwent upper gastrointestinal endoscopy with gastric biopsies were included. The ¹³C-UBT was performed after a 4-hour fasting period with 4 points of collection: baseline (T0), and at 10, 20, and 30 minutes (T10, T20, and T30) after ingestion of 25 mg ¹³C-urea diluted in 100 mL of apple juice. The infection status was defined through 3 invasive methods, and a patient was considered infected with a positive culture or concomitant positive histology and rapid urease test. The absence of infection was defined by all negative histology, rapid urease test, and culture. Analysis of exhaled breath samples was performed with an isotope-selective infrared spectrometer. A receiver-operating characteristic curve analysis was done to define cutoff delta over baseline (DOB) values. RESULTS: A total of 129 patients between the ages of 2.1 and 19 years (median 11.6 years; mean age ± standard deviation 11.5 ± 3.8 years; F:M 85:44) were included. The prevalence of infection was 41.1%. The sensitivity (S) and specificity (Sp) were at T10 (cutoff DOB 2.55‰), S 94.7% (95% confidence interval [CI] 90.9-98.5) and Sp 96.8% (95% CI 93.4-100); at T20 (DOB 2.5‰), S 96.2% (95% CI 92.9-99.5) and Sp 96.1% (95% CI 93.7-99.8); and at T30 (DOB 1.6‰), S 96.2% (95% CI 92.9-99.5) and Sp 94.7% (95% CI 90.8-98.6). CONCLUSIONS: Low-dose ¹³C-UBT with early sampling is accurate for diagnosing H pylori infection in children and adolescents.


Subject(s)
Gastric Mucosa/microbiology , Gastritis/diagnosis , Helicobacter Infections/diagnosis , Helicobacter pylori/isolation & purification , Urea , Adolescent , Adult , Brazil/epidemiology , Breath Tests , Carbon Isotopes , Child , Child, Preschool , Female , Follow-Up Studies , Gastritis/epidemiology , Gastritis/metabolism , Gastritis/microbiology , Helicobacter Infections/epidemiology , Helicobacter Infections/metabolism , Helicobacter Infections/microbiology , Helicobacter pylori/metabolism , Humans , Male , Prevalence , Sensitivity and Specificity , Urea/administration & dosage , Young Adult
6.
J Pediatr Gastroenterol Nutr ; 56(6): 645-8, 2013 Jun.
Article in English | MEDLINE | ID: mdl-23403439

ABSTRACT

OBJECTIVE: The aim of the present study was to assess the primary and secondary resistance of Helicobacter pylori strains to clarithromycin, amoxicillin, furazolidone, tetracycline, and metronidazole, the conventional antibiotics presently used in Brazilian children and adolescents. METHODS: Seventy-seven consecutive H pylori strains, 71 of 77 strains obtained from patients without previous eradication treatment for H pylori infection, and 6 strains from patients in whom previous eradication treatment had failed. RESULTS: Global rate of resistance was 49.3% (38/77): 40% of strains were resistant to metronidazole, 19.5% to clarithromycin, and 10.4% to amoxicillin. All of the tested H pylori strains were susceptible to furazolidone and tetracycline. Multiple resistance were detected in 18.2% (14/77 patients) of the strains: 6 of 14 (43%) simultaneously resistant to clarithromycin and metronidazole; 5 of 14 (36%) to amoxicillin and metronidazole; 2 of 14 (14%) to amoxicillin, clarithromycin, and metronidazole; and 1 of 14 (7%) to clarithromycin and amoxicillin. CONCLUSIONS: The high resistance rate to metronidazole and clarithromycin observed in clinical H pylori isolates can exclude these antimicrobials in empirical eradication treatment in Brazil. Otherwise, furazolidone and tetracycline presented no resistance. Properly assessing the risks and benefits, these 2 antimicrobials and their derivatives could be used in empirical eradication schedules, both associated with amoxicillin, which showed a low resistance rate despite its wide use in pediatric patients.


Subject(s)
Anti-Bacterial Agents/pharmacokinetics , Clarithromycin/pharmacology , Drug Resistance, Bacterial , Helicobacter Infections/microbiology , Helicobacter pylori/drug effects , Metronidazole/pharmacology , Adolescent , Adult , Amoxicillin/pharmacology , Amoxicillin/therapeutic use , Anti-Bacterial Agents/therapeutic use , Brazil , Child , Child, Preschool , Clarithromycin/therapeutic use , Developing Countries , Disease Eradication , Drug Resistance, Multiple, Bacterial , Female , Furazolidone/pharmacology , Furazolidone/therapeutic use , Helicobacter Infections/drug therapy , Helicobacter Infections/prevention & control , Helicobacter pylori/growth & development , Humans , Male , Metronidazole/therapeutic use , Microbial Sensitivity Tests , Tetracycline/pharmacology , Tetracycline/therapeutic use , Young Adult
7.
Rev. paul. pediatr ; 30(2): 283-287, jun. 2012. ilus, tab
Article in Portuguese | LILACS | ID: lil-641717

ABSTRACT

Relatar dois casos de doença celíaca (DC) com manifestação de constipação. DESCRIÇÃO DO CASO: Dois pacientes do sexo feminino, com 18 e 30 meses de idade, respectivamente, apresentando história de constipação crônica refratária ao tratamento. Como apresentavam concomitantemente baixo ganho ponderal e estatural, foi realizada investigação da função digestiva-absortiva, que resultou positiva para o anticorpo IgA antitransglutaminase tecidual. O diagnóstico de DC foi confirmado por biópsia de intestino delgado que revelou atrofia vilositária moderada/intensa e infiltrado linfocítico intraepitelial. Um mês após o início do tratamento com dieta isenta de glúten, ambas as pacientes passaram a apresentar fezes pastosas diariamente. COMENTÁRIOS: A DC pode se apresentar nas formas clássica, assintomática e atípica, em que manifestações isoladas como constipação podem retardar o diagnóstico.


To report two cases of patients with celiac disease (CD) whose main complaint was chronic constipation. CASE DESCRIPTION: Two girls, aged 18 and 30 months, had chronic constipation refractory to standard treatment. Both patients concomitantly evidenced low weight gain and short stature. The investigation of the digestive-absorptive function was positive for IgA antibodies against tissue transglutaminase. The diagnosis of CD was confirmed by a small bowel biopsy that showed moderate/severe villous atrophy and increased intraepithelial lymphocytic infiltration. One month after starting the dietary treatment with a gluten-free diet, both patients recovered from constipation, with the passage of soft stools daily. COMMENTS: CD may be presented in the classical, asymptomatic or atypical forms. In the latter form, isolated manifestations, surch as constipation, delay the diagnosis of the disease.


Relatar dos casos de enfermedad celíaca (EC) con manifestación de constipación. DESCRIPCIÓN DEL CASO: Dos pacientes del sexo femenino, con 18 y 30 meses de edad, respectivamente, presentando historia de constipación crónica refractaria al tratamiento. Como presentaban concomitantemente baja ganancia de peso ponderal y estatural, se realizó investigación de la función digestiva-absortiva, que resultó positiva para el anticuerpo IgA antitransglutaminasa tejidual. El diagnóstico de EC fue confirmado por biopsia de intestino delgado que reveló atrofia vellositaria moderada/intensa e infiltrado linfocítico intraepitelial. Un mes después del inicio del tratamiento con dieta exenta de gluten, ambas pacientes pasaron a presentar heces pastosas diariamente. COMENTARIOS: La EC puede presentarse en la forma clásica, asintomática y atípica, en que manifestaciones aisladas como constipación pueden retardar el diagnóstico.


Subject(s)
Humans , Female , Infant , Child, Preschool , Constipation/complications , Celiac Disease/complications
8.
Rev Esp Enferm Dig ; 103(9): 453-7, 2011 Sep.
Article in English | MEDLINE | ID: mdl-21951113

ABSTRACT

OBJECTIVE: a strong association has been observed between celiac disease, generally its silent clinical form, and autoimmune disorders. A potential correlation with inflammatory bowel disease has also been suggested. Anti-tissue transglutaminase antibodies have been detected in Crohn´s disease. We investigated the prevalence of celiac disease in patients with autoimmune diabetes and in Crohn´s disease patients and also evaluated the correlation between anti-transglutaminase antibody positivity and the clinical status of these diseases. METHODS: anti-tissue transglutaminase and anti-endomysium antibodies were assessed by enzyme-linked immunosorbent assay and indirect immunofluorescence, respectively. Upper digestive endoscopy and duodenal biopsy were indicated for cases with positive serology. RESULTS: anti-transglutaminase antibodies were detected in five diabetic patients (prevalence of 11.1%), only one serum sample was positive for IgG isotypes. Nine of thirty-three patients with Crohn´s disease had low positive levels for IgA anti-transglutaminase. Antiendomysium antibodies were detected only in celiac patients. Celiac disease was confirmed in all diabetic patients submitted to duodenal biopsies who presented both anti-transglutaminase and anti-endomisyum antibodies positivity. In Crohn´s disease, its clinical status and the diagnosis of celiac disease were not associated with positiveanti-transglutaminase result. CONCLUSIONS: the prevalence of celiac disease was high in diabetic patients. Anti-tissue transglutaminase antibodies were sensitive and specific markers of celiac disease in this diabetic group, while these antibodies were of limited value for celiac disease screening in patients with Crohn´s disease.


Subject(s)
Celiac Disease/complications , Crohn Disease/complications , Diabetes Mellitus, Type 1/complications , Immunoglobulin A/blood , Immunoglobulin G/blood , Transglutaminases/immunology , Adolescent , Adult , Aged , Biomarkers/blood , Celiac Disease/immunology , Celiac Disease/pathology , Crohn Disease/immunology , Crohn Disease/pathology , Diabetes Mellitus, Type 1/immunology , Diabetes Mellitus, Type 1/pathology , Duodenoscopy , Duodenum/pathology , Enzyme-Linked Immunosorbent Assay , Female , Fluorescent Antibody Technique, Indirect , Humans , Intestinal Mucosa/pathology , Male , Middle Aged , Young Adult
9.
Rev. esp. enferm. dig ; 103(9): 453-457, sept. 2011.
Article in English | IBECS | ID: ibc-91040

ABSTRACT

Objective: a strong association has been observed between celiac disease, generally its silent clinical form, and autoimmune disorders. A potential correlation with inflammatory bowel disease has also been suggested. Anti-tissue transglutaminase antibodies have been detected in Crohn’s disease. We investigated the prevalence of celiac disease in patients with autoimmune diabetes and in Crohn’s disease patients and also evaluated the correlation between anti-transglutaminase antibody positivity and the clinical status of these diseases. Methods: anti-tissue transglutaminase and anti-endomysium antibodies were assessed by enzyme-linked immunosorbent assay and indirect immunofluorescence, respectively. Upper digestive endoscopy and duodenal biopsy were indicated for cases with positive serology. Results: anti-transglutaminase antibodies were detected in five diabetic patients (prevalence of 11.1%), only one serum sample was positive for IgG isotypes. Nine of thirty-three patients with Crohn’s disease had low positive levels for IgA anti-transglutaminase. Antiendomysium antibodies were detected only in celiac patients. Celiac disease was confirmed in all diabetic patients submitted to duodenal biopsies who presented both anti-transglutaminase and anti-endomisyum antibodies positivity. In Crohn’s disease, its clinical status and the diagnosis of celiac disease were not associated with positive anti-transglutaminase result. Conclusions: the prevalence of celiac disease was high in diabetic patients. Anti-tissue transglutaminase antibodies were sensitive and specific markers of celiac disease in this diabetic group, while these antibodies were of limited value for celiac disease screening in patients with Crohn’s disease(AU)


Subject(s)
Humans , Male , Female , Immunoglobulin A/analysis , Immunoglobulin A/blood , Immunoglobulin A , Crohn Disease/complications , Crohn Disease/diagnosis , Immunologic Factors/administration & dosage , Immunologic Factors , Celiac Disease/complications , Celiac Disease/immunology
10.
Eur J Gastroenterol Hepatol ; 23(9): 759-65, 2011 Sep.
Article in English | MEDLINE | ID: mdl-21694599

ABSTRACT

BACKGROUND: Extrahepatic biliary atresia results from a progressive destruction of the bile ducts by an inflammatory fibrosing process which leads ultimately to cirrhosis of biliary type. The etiology of the disorder remains unknown. The histological features include cholestasis, ductular proliferation, eventual loss of intrahepatic bile ducts, and ducts with primitive embryonic shape (ductal plate malformation). PURPOSE: To examine the morphological changes of the biliary intrahepatic ducts, we aimed at investigating the cell proliferation and the diameter of the interlobular bile ducts in extrahepatic biliary atresia, and in normal liver children. METHODS: Liver samples from 35 patients with biliary atresia and 10 from control normal children were used. Immunoexpression of cytokeratin 19 was evaluated and a double-staining procedure was performed with cytokeratin 8/proliferating cell nuclear antigen. The stereological measurements of the intrahepatic bile ducts diameter were evaluated by a computerized system of image analysis. RESULTS: The patterns of intrahepatic cholangiopathy in biliary atresia were obstructive features (42.86%), paucity of intrahepatic bile ducts (20%), ductal plate malformation (28.57%), and ductal plate malformation associated with paucity of intrahepatic bile ducts (8.57%). The average external diameter of interlobular bile ducts in biliary atresia was smaller than that of the control infant livers. Among the four patterns of biliary atresia cholangiopathies, those associated with ductopenia showed the smallest bile duct diameter. There was a negative correlation between the bile duct to portal space ratio and the age of the child at the time of Kasai portoenterostomy. Only in biliary atresia are the bile duct cells stained with proliferating cell nuclear antigen. CONCLUSION: (i) In biliary atresia, both ductular metaplasia and ductular proliferation were observed; (ii) biliary atresia associated with ductopenia showed narrowing of interlobular ducts, probably as a consequence of degeneration with atrophy and fibrosis.


Subject(s)
Bile Ducts, Intrahepatic/pathology , Biliary Atresia/pathology , Age Factors , Bile Ducts, Intrahepatic/abnormalities , Bile Ducts, Intrahepatic/metabolism , Biliary Atresia/metabolism , Biopsy , Case-Control Studies , Cell Proliferation , Child, Preschool , Female , Hepatocytes/metabolism , Humans , Infant , Keratin-19/metabolism , Keratin-7/metabolism , Keratin-8/metabolism , Male , Proliferating Cell Nuclear Antigen/metabolism
11.
Pediatr Surg Int ; 26(5): 473-8, 2010 May.
Article in English | MEDLINE | ID: mdl-20405273

ABSTRACT

BACKGROUND/AIMS: Delayed gastric emptying may be an important contributing factor to gastroesophageal reflux disease (GERD) in children, but there are limited data on its evaluation in children with erosive-GERD. This study aims to evaluate the gastric emptying of a solid meal in patients with erosive-GERD. METHODS: Nineteen patients (age range 8.79-17.9 years) with erosive esophagitis and 14 healthy controls (age range from 8.04 to 18.7 years) were compared. Esophagitis was graded according to Los Angeles classification. The gastric emptying was evaluated by (13)C-octanoic breath test, which was performed after a 344 kcal standardized solid test meal. Symptoms were evaluated using a standardized questionnaire. RESULTS: The two most prevalent symptoms were nausea and epigastric pain, which were reported by 12 (63.2%) patients. Irritable bowel syndrome was present in 26.3% (5/19). The median gastric emptying half-time in patients was 160 min (interquartile range [IQR] 140-174 min), which was not different from the controls' figure (median 157 min, IQR 143-170 min). Additionally, the lag time and the gastric emptying coefficient were not significantly different between the study groups. CONCLUSION: Delayed gastric emptying is not associated with erosive esophagitis in children with GERD, when compared to controls.


Subject(s)
Gastric Emptying , Gastroesophageal Reflux/physiopathology , Adolescent , Breath Tests , Case-Control Studies , Chi-Square Distribution , Child , Endoscopy, Digestive System , Female , Humans , Male , Statistics, Nonparametric , Surveys and Questionnaires
12.
GED gastroenterol. endosc. dig ; 29(1): 4-8, jan.-mar. 2010. tab
Article in Portuguese | LILACS | ID: lil-571922

ABSTRACT

Objetivo: avaliar a relação entre a infecção por helicobacter pylori e a presença de giardia intestinalis, diagnosticada através do teste de impressão da mucosa duodenal em pacientes com dor abdominal. Material e métodos: foram avaliados prospectivamente 33 pacientes consecutivos com queixa de dor abdominal e que realizaram exame parasitológico de fezes; durante a endoscopia digestiva alta foram coletadas biópsias de duodeno para o teste de impressão e análise microscópica, e de mucosa do antro para pesquisa do H. pylori (teste rápido da urease e histologia). Resultados: o teste da impressão da mucosa duodenal foi positiva para giardia intestinalis em 9/33 pacientes (27,2%) e o H. pylori foi detectado em 21/33 (63,6%) pacientes, sendo 4/9 (44,4%) entre os pacientes infestados e 17/24 (70,8%) entre os não infestados por Giardia intestinalis. O exame parasitológico de fezes foi positivo em apenas 1/9 (11%) pacientes com o teste de impressão positivo; outros 3 pacientes apresentaram: ascaris lumbricoides, entamoeba coli e endolimax nana e a biópsia duodenal para giardia intestinalis foi positiva em 3/8 (37,5%). Conclusão: nossos resultados sugerem que não há associação entre parasitoses e infecção por Helicobacter pylori, sendo o teste de impressão da mucosa duodenal útil no diagnóstico da infestação por Giardia intestinalis durante investigação de pacientes com sintomas dispépticos submetidos à endoscopia digestiva. No entanto, são necessários mais estudos com maior amostragem.


Objective: to evaluate the relationship between helicobacter pylori infection and giardia intestinalis infestation, diagnosed by duodenal imprint test, in patients with abdominal pain. Material and methods: thirty three consecutive patients were prospectively evaluated by esophagogastroduodenoscopy and stool examination for ova and parasites. Duodenal biopsy was collected for imprint test and histological examination. H. pylori was diagnosed by histological examination of gastric antrum and rapid urease test. Results: duodenal imprint test was positive for giardia intestinalis in 9/33 patients (27.2%) and H. ylori was detected in 21/33 (63.6%) patients, 4/9 (44.4%) giardia intestinalis positive patients and 17/24 (70.8%) giardia intestinalis negative patients. Stool examination was positive in 1/9 (11%) patient with a positive duodenal imprint test, and another 3 patients presented ascaris lumbricoides, entamoeba coli e endolimax nana. Duodenal histology was positive for giardia intestinalis in 3/8 (37,5%). Conclusion: our results suggested that there is no association between giardiasis and Helicobacter pylori infection. Duodenal imprint test was useful to diagnose giardia intestinalis infestation in dyspeptic patients evaluated by esophagogastroduodenoscopy. Nevertheless, more studies with greater sampling are necessary.


Subject(s)
Humans , Male , Female , Child , Adolescent , Biopsy , Abdominal Pain , Child Health , Helicobacter pylori , Helicobacter Infections , Giardiasis , Giardia lamblia , Adolescent Health , Endoscopy, Digestive System
13.
J Pediatr Gastroenterol Nutr ; 50(4): 400-3, 2010 Apr.
Article in English | MEDLINE | ID: mdl-20179646

ABSTRACT

BACKGROUND AND OBJECTIVE: The monoclonal stool antigen test for diagnosing Helicobacter pylori infection in children has been tested in developed countries, showing sensitivity and specificity higher than 90%. However, its accuracy in young children from developing countries is not well established. The aim of the study was to determine the accuracy of the monoclonal stool antigen test for diagnosing H pylori infection in children up to 7 years old. PATIENTS AND METHODS: Two hundred seventy-six patients (53.6% female; ages 0.35-6.99 years) were evaluated. Gold standard positive culture or positive histology and rapid urease tests were performed. The test (Amplified IDEIATM Hp StAR) was done according to the manufacturer's instructions. Results were expressed as optical density (OD) and an OD more than or equal to 0.190 was considered positive. Additionally, a receiver operating characteristic curve was used to find the best cutoff. RESULTS: The monoclonal stool antigen test for diagnosing H pylori infection showed 100% sensitivity (95% confidence interval [CI] 92.7%-100%) and 76.2% specificity (95% CI 70.1%-81.4%), considering the manufacturer's cutoff. After setting a new cutoff with the receiver operating characteristic curve (OD = 0.400), sensitivity remained 100% (95% CI 92.7%-100%), but the specificity improved to 97.7% (95% CI 94.7%-99%). At ages up to 2 years, sensitivity was 100% (95% CI 43.8%-100%) and specificity was 100% (95% CI 92.4%-100%); at ages 2 to 4 years, 100% (95% CI 80.6%-100%) and 97.6% (95% CI 96%-99.2%); at ages older than 4 years, 100% (95% CI 88.6%-100%) and 96.6% (95% CI 94.7%-98%), respectively. CONCLUSIONS: The monoclonal stool antigen test is accurate for diagnosing H pylori in children younger than 7 years old, but it must be locally validated in order to find the best cutoff for each population.


Subject(s)
Antibodies, Monoclonal , Antigens, Bacterial/analysis , Feces/chemistry , Helicobacter Infections/diagnosis , Helicobacter pylori/immunology , Immunoenzyme Techniques/methods , Child , Child, Preschool , Female , Helicobacter Infections/immunology , Helicobacter Infections/microbiology , Humans , Infant , Male , ROC Curve , Reference Values , Sensitivity and Specificity
14.
Arq. gastroenterol ; 46(4): 328-332, out.-dez. 2009. tab
Article in English | LILACS | ID: lil-539632

ABSTRACT

Context: Although Helicobacter pylori infection is prevalent in our country, there are few studies evaluating the associated histological abnormalities in children. Objective: To evaluate the histological features of the gastric mucosa in children and adolescents with Helicobacter pylori gastritis. Methods: One hundred and thirty two gastric biopsies from 22 symptomatic patients infected with H. pylori (14F/8M, median age 10 y 5 mo, age range 2 y 11 mo to 16 y 9 mo) were evaluated. Evaluated gastric regions included: antrum (lesser and greater curvature), corpus (lesser and greater curvature), incisura angularis and fundus. Histological examination was performed according to the Updated Sydney System, and regional scores for polymorphonuclear and mononuclear cell infiltrate as well as bacterial density were generated. Results: Fifteen (68.2 percent) patients presented H. pylori-chronic active gastritis, six (27.3 percent) presented antrum-predominant H. pylori-chronic active gastritis, and one (4.5 percent) presented corpus-predominant H. pylori-chronic active gastritis. Polymorphonuclear cell infiltrate and mononuclear cell infiltrate were observed in 93.9 percent and 98.5 percent of the biopsy specimens, respectively. Higher histological scores for polymorphonuclear infiltrate, mononuclear infiltrate, and bacterial density were observed in the gastric antrum. Intestinal metaplasia and gastric atrophy were not identified in any patient. Lymphoid aggregates and lymphoid follicles were observed in the gastric antrum of three (13.6 percent) and seven (31.8 percent) patients, respectively, but they were not related to antral nodularity. Conclusions: Chronic active gastritis was observed in all patients with H. pylori infection. However, antral or corporeal predominance was not observed in most patients.


Contexto: Embora a infecção por Helicobacter pylori seja prevalente em nosso país, há poucos estudos avaliando a histologia gástrica de crianças infectadas. Objetivo: Avaliar as características histológicas da mucosa gástrica de crianças e adolescentes com gastrite por H. pylori. Métodos: Foram avaliadas 132 biopsias gástricas de 22 pacientes sintomáticos infectados por H. pylori (14F/8M, idade mediana 10 anos e 5 meses, variação: 2a 11m a 16a 9m). As regiões gástricas avaliadas foram: antro (pequena e grande curvatura), corpo (pequena e grande curvatura), incisura angular e fundo. A avaliação histológica foi feita de acordo com o Sistema Sydney Atualizado. Foram gerados escores regionais do infiltrado de células polimorfonucleares, de células mononucleares e de densidade bacteriana. Resultados: Quinze (68,2 por cento) pacientes apresentaram gastrite crônica ativa associada a H. pylori, seis (27,3 por cento) apresentaram gastrite crônica ativa com predominância antral associada a H. pylori, e um (4,5 por cento), gastrite crônica ativa com predominância corpórea associada a H. pylori. Infiltrado de células polimorfonucleares e de mononucleares foram observados em, respectivamente 93,9 por cento e 98,5 por cento dos fragmentos de biopsia. Maior escore histológico de infiltrado de células polimorfonucleares, mononucleares e de densidade bacteriana foi observado no antro gástrico. Metaplasia intestinal e atrofia gástrica não foram observadas em nenhum paciente. Agregados linfóides e folículos linfóides foram observados no antro gástrico de três (13,6 por cento) e sete (31,8 por cento) pacientes, respectivamente, mas não foram associados à ocorrência de nodularidade antral. Conclusão: Gastrite crônica ativa foi observada em todos os pacientes com infecção por H. pylori. Na maioria dos pacientes não houve predominância antral ou corpórea da gastrite.


Subject(s)
Adolescent , Child , Child, Preschool , Female , Humans , Male , Gastric Mucosa/pathology , Gastritis/pathology , Helicobacter pylori , Helicobacter Infections/pathology , Biopsy , Chronic Disease , Gastric Mucosa/microbiology , Gastritis/microbiology
15.
Pediatr. mod ; 45(6)nov.-dez. 2009.
Article in Portuguese | LILACS | ID: lil-540865

ABSTRACT

A síndrome megabexiga microcólon hipoperistaltismo intestinal (SMMHI) é uma doença rara, de provável herança genética, com prognóstico reservado, já no primeiro ano de vida. Relata-se um caso de SMMHI em criança do sexo feminino, atualmente com 16 anos de idade, com o objetivo de ressaltar o prognóstico favorável, não esperado, com sobrevida até a adolescência, de uma síndrome rara. Chama-se a atenção para a possibilidade de estabelecer o diagnóstico no período perinatal e para a importância de realizar o estudo urodinâmico.


Subject(s)
Humans , Female , Adolescent , Cystostomy , Urinary Bladder Diseases/complications , Urinary Bladder Diseases/pathology , Hydronephrosis/complications , Hydronephrosis/diagnosis , Urinary Tract/pathology
16.
Pediatr Diabetes ; 10(5): 316-20, 2009 Aug.
Article in English | MEDLINE | ID: mdl-19017282

ABSTRACT

BACKGROUND: An increased number of intraepithelial lymphocytes (IELs) can be the only histological feature in early stages of celiac disease (CD). This is also presented in duodenum of patients with Helicobacter pylori-associated gastritis and in autoimmune diseases. Because CD is frequently associated with type 1 diabetes mellitus, we analyzed the density of IELs in the distal duodenum of non-celiac diabetic patients associated or not with H.pylori infection. METHODS: IEL density and the presence of H.pylori were determined in biopsies of the distal duodenum and gastric antrum and body obtained from Brazilian diabetic adolescents who were negative for anti-human tissue transglutaminase and anti-endomysial. The results were compared with the histological findings of gastric and duodenal biopsies obtained from non-diabetic older children and adolescents. RESULTS: H.pylori was detected in 33.3% of diabetic patients and in 56.7% of the control group. No association was observed between the presence of H.pylori and an increased lymphocyte density in the distal duodenum in either group. Diabetic patients presented a duodenal IEL density similar to that of the control group. Lymphocytic gastritis was not identified in any of the biopsies analyzed. CONCLUSIONS: The density of IELs in the distal duodenum of diabetic adolescents did not differ from that observed in older children and adolescents without this autoimmune disease. H.pylori infection, which is frequent among adolescents from developing countries, did not modify lymphocyte density in the distal duodenum in the absence of lymphocytic gastritis.


Subject(s)
Diabetes Mellitus, Type 1/pathology , Duodenum/pathology , Gastritis/pathology , Helicobacter Infections/pathology , Lymphocytosis/pathology , Adolescent , Brazil , Diabetes Mellitus, Type 1/immunology , Diabetes Mellitus, Type 1/microbiology , Duodenum/cytology , Female , Gastritis/immunology , Gastritis/microbiology , Helicobacter Infections/immunology , Helicobacter Infections/microbiology , Helicobacter pylori/growth & development , Helicobacter pylori/immunology , Humans , Immunohistochemistry , Lymphocyte Count , Lymphocytosis/immunology , Lymphocytosis/microbiology , Male
17.
Arq Gastroenterol ; 46(4): 328-32, 2009.
Article in English | MEDLINE | ID: mdl-20232015

ABSTRACT

CONTEXT: Although Helicobacter pylori infection is prevalent in our country, there are few studies evaluating the associated histological abnormalities in children. OBJECTIVE: To evaluate the histological features of the gastric mucosa in children and adolescents with Helicobacter pylori gastritis. METHODS: One hundred and thirty two gastric biopsies from 22 symptomatic patients infected with H. pylori (14F/8M, median age 10 y 5 mo, age range 2 y 11 mo to 16 y 9 mo) were evaluated. Evaluated gastric regions included: antrum (lesser and greater curvature), corpus (lesser and greater curvature), incisura angularis and fundus. Histological examination was performed according to the Updated Sydney System, and regional scores for polymorphonuclear and mononuclear cell infiltrate as well as bacterial density were generated. RESULTS: Fifteen (68.2%) patients presented H. pylori-chronic active gastritis, six (27.3%) presented antrum-predominant H. pylori-chronic active gastritis, and one (4.5%) presented corpus-predominant H. pylori-chronic active gastritis. Polymorphonuclear cell infiltrate and mononuclear cell infiltrate were observed in 93.9% and 98.5% of the biopsy specimens, respectively. Higher histological scores for polymorphonuclear infiltrate, mononuclear infiltrate, and bacterial density were observed in the gastric antrum. Intestinal metaplasia and gastric atrophy were not identified in any patient. Lymphoid aggregates and lymphoid follicles were observed in the gastric antrum of three (13.6%) and seven (31.8%) patients, respectively, but they were not related to antral nodularity. CONCLUSIONS: Chronic active gastritis was observed in all patients with H. pylori infection. However, antral or corporeal predominance was not observed in most patients.


Subject(s)
Gastric Mucosa/pathology , Gastritis/pathology , Helicobacter Infections/pathology , Helicobacter pylori , Adolescent , Biopsy , Child , Child, Preschool , Chronic Disease , Female , Gastric Mucosa/microbiology , Gastritis/microbiology , Humans , Male
18.
J. bras. patol. med. lab ; 44(2): 107-114, abr. 2008. ilus, tab
Article in Portuguese | LILACS | ID: lil-486032

ABSTRACT

INTRODUÇÃO: Osteossarcoma (OS), o mais freqüente tumor primário maligno do osso, tem comportamento local agressivo e alto índice de disseminação sistêmica. Os eventos que permitem o crescimento e a disseminação tumoral ainda permanecem controversos. Os estudos sobre a carcinogênese e a progressão dessa neoplasia, com base na imunoexpressão de c-erb-B2, P-glicoproteína (P-gp) e p53, apresentam resultados conflitantes acerca do real valor prognóstico e suas correlações com parâmetros histológicos. A anaplasia, em neoplasias na infância, constitui parâmetro histológico de agressividade tumoral e quimiorresistência. Nos OS primários ou metastáticos, seu significado permanece controverso. Por outro lado, em outras neoplasias humanas, a expressão do c-erb-B2 relaciona-se com p53, grau nuclear e outros parâmetros de agressividade. OBJETIVO: Avaliar a imunoexpressão de p53, c-erb-B2 e P-gp em OS, correlacionando os parâmetros entre si e com a presença de anaplasia. MÉTODO: O estudo incluiu 96 biópsias pré-quimioterapia de pacientes com OS de alto grau, diagnosticados entre 1991 e 2000. A pesquisa imuno-histoquímica de p53, P-gp e c-erb-B2 foi feita pela técnica da estreptoavidina-biotina-peroxidase. Foram considerados positivos os casos onde havia imunoexpressão em 10 por cento ou mais das células neoplásicas. Somente colorações membranosa (para cerb-B2 e P-gp) e nuclear (para p53) foram consideradas positivas. Anaplasia foi definida como no tumor de Wilms, sendo considerada presente ou ausente. RESULTADOS: Anaplasia pôde ser avaliada em 82/96 casos, estando presente em 29 (35,36 por cento). Imunoexpressão de p53 foi detectada em 25 dos 60 casos (36,23 por cento); de P-gp, em 30 dos 73 casos (41,1 por cento); e de c-erb-B2, em 22 dos 55 casos (40 por cento). Os resultados demonstraram associação entre as imunoexpressões de c-erb-B2 e p53 (p = 0,042), p53 e o parâmetro anaplasia (p = 0,015), anaplasia e Pg (p = 0.034) CONCLUSÕES: A imunoexpressão...


BACKGROUND: Osteosarcomas (OS), the most frequent primary malignant bone tumors, have aggressive local behavior and high rate of metastatization. The events that allow tumor growth and dissemination are still controversial. The studies about carcinogenesis and tumor progression in this neoplasia, which are based on c-erb-B2, P-glycoprotein (P-gp) and p53 immunoexpression, show conflicting results as to the real prognostic value and its correlations with histological parameters. Anaplasia in childhood neoplasias is a histological parameter of tumor aggressiveness and chemoresistance. In primary or metastatic OS, its meaning remains controversial. On the other hand, in other human neoplasias, c-erb-B2 expression is associated with p53, nuclear grade and other aggressiveness parameters. OBJECTIVE: The aim of the present study was to evaluate p53, c-erb-B2 and P-gp immunoexpression in OS, correlating the parameters with the presence of anaplasia. METHODS: This study included 96 pre-chemotherapy biopsies in patients with high-grade OS diagnosed between 1991 and 2000. The immunohistochemical evaluation of p53 and c-erb-B2 was carried out with the streptavidin-biotin-peroxidase technique. Cases were considered positive when there was immunoexpression in 10 percent or more neoplastic cells. Only membrane staining (for c-erb-B2 and P-gp), and nuclear staining (for p53) were considered positive. Anaplasia was defined as Wilms' tumor, and considered present or absent. RESULTS: Anaplasia was present in 29 out of 82 cases (35.36 percent); p53 immunoexpression was detected in 25 out of 60 cases (36.23 percent); P-gp, in 30 out of 73 cases (41.1 percent); and c-erb-B2, in 22 out of 55 cases (40 percent). The results demonstrated an association between c-erb-B2 and p53 immunoexpression (p = 0.042), p53 and parameter of anaplasia (p = 0.015), anaplasia and P-gp (p = 0.034). CONCLUSIONS: The p53, c-erb-B2 and P-gp immunoexpression is relatively frequent in high-grade, metastic...


Subject(s)
Humans , Male , Female , Child, Preschool , Child , Adolescent , Adult , Middle Aged , Anaplasia/diagnosis , ATP Binding Cassette Transporter, Subfamily B, Member 1/analysis , Immunohistochemistry , Osteosarcoma , /analysis , /analysis , Biomarkers, Tumor/analysis , Osteosarcoma
19.
J Pediatr Gastroenterol Nutr ; 46(4): 403-8, 2008 Apr.
Article in English | MEDLINE | ID: mdl-18367952

ABSTRACT

AIM: To evaluate gastric emptying of solids in children and adolescents with functional dyspepsia with and without Helicobacter pylori infection. PATIENTS AND METHODS: The study included 27 female patients (mean age 13.38 +/- 2.81 y) with functional dyspepsia according to Rome II criteria who were selected after upper gastrointestinal endoscopy found no major mucosal abnormality. Fragments were collected from the esophagus, gastric antrum, and gastric body for histological examination and rapid urease test. H. pylori infection was diagnosed according to the rapid urease test and histological appearance. The histological appearance of the gastric mucosa was evaluated according to modified Sydney criteria. A C-octanoic breath test was performed after a test meal (2 slices of toasted bread, 10 g margarine, and 1 egg with 100 microL of the tracer dipped in the yolk) with 13 points of air collection in 4 hours. RESULTS: Infection with H. pylori was observed in 12 of 27 patients (44.4%). The gastric emptying half-time was shorter in infected patients than in uninfected patients (mean +/- SD 153.4 +/- 20.0 min vs 179.2 +/- 32.2 min; P = 0.019), as was the lag phase (106.3 +/- 22.6 vs 126.6 +/- 22.7 min; P = 0.038). There was no relationship between gastric emptying (half-time and lag phase) and degree of histological abnormality. Vomiting and nausea were associated with slower gastric emptying in patients without H. pylori gastritis more often than in infected patients. CONCLUSIONS: The study suggests that delayed gastric emptying can play an important role in a subgroup of dyspeptic patients, particularly those without H. pylori infection who have nausea and vomiting.


Subject(s)
Dyspepsia/physiopathology , Gastric Emptying/physiology , Helicobacter Infections/physiopathology , Helicobacter pylori , Adolescent , Breath Tests , Caprylates , Carbon Isotopes , Female , Humans
20.
Acta cir. bras ; 22(2): 120-124, Mar.-Apr. 2007. tab, graf, ilus
Article in English | LILACS | ID: lil-443688

ABSTRACT

PURPOSE: To evaluate tissue lesions, especially those of the intestinal innervation, in an excluded jejunal loop subjected to ischemia and reperfusion in rats. METHODS: To evaluate the role of ischemia and reperfusion lesions in an excluded intestinal loop, four groups of 20 rats were set up: control group (GCEI7) and three experimental groups (GIREI7, GIREI14 and GIREI28). They were all subjected to exclusion of an intestinal segment of six centimeters in length, at a distance of 10 centimeters from the Treitz angle. The 60 animals in the three experimental groups were additionally subjected to ischemia of the vascular pedicle for 30 minutes. The control group and the experimental group GIREI7 were evaluated on the 7th day after the operation. The groups GIREI14 and GIREI28 (which also underwent ischemia) were utilized to evaluate the evolution of the lesion over time, on the 14th and 28th days after the operation, respectively. From the intestinal excluded loop, we take one ring of 0,5 cm distal and proximal, that were fixed in formaline 10 percent solution in order to do histological (HE) and immuno-hystochemial (PS-100) evaluation (enteric nervous system.) The distal loop was exteriorized in stoma and the proximal part closed with polipropilene 6-0. RESULTS: It was observed a decrease in the number of ganglionic cells in the myenteric plexus in the group subjected to ischemia and reperfusion (GIREI7), in relation to the control group (GCEI7) at the 7th post-operative day (Mann-Whitney test: p = 0.0173 *. Comparing the numbers of ganglionic cells in the myenteric plexus before and after jejunal loop exclusion GCEI7 - (Wilcoxon test: p = 0.0577). GIREI7 - Comparing the numbers of ganglionic cells in the myenteric plexus before and after ischemia (*p = 0.0399). Comparing the percentage variations in ganglionic cells in the myenteric plexus on the 7th, 14th and 28th days after the procedure, in the groups GIREI7, GIREI14 and GIREI28,...


OBJETIVO: Avaliar lesões teciduais, especialmente aquelas da inervação intestinal em alça jejunal excluída submetida à isquemia e reperfusão em ratos. MÉTODOS: Para avaliar o papel da isquemia e reperfusão nas lesões em uma alça intestinal exclusa, quatro grupos de 20 ratos foram criados: Grupo controle (GCE17) e 3 Grupos experimentais (GIRE!7, GIREI14) e GIREI28) Todos foram submetidos à exclusão de um segmento intestinal de seis centímetros de extensão, a 10 centímetros do ângulo de Treitz . Os 60 animais dos 3 grupos experimentais foram também submetidos a isquemia do pedículo vascular por 30 minutos.O grupo controle e o grupo experimental GIREI7 foram avaliados no 7°. Dia após a operação. Os grupos GIREI14 e GIREI28 também submetidos à isquemia, foram utilizados para avaliar a evolução da lesão com o passar do tempo, no 14°. e 28°. dias respectivamente. Do segmento intestinal excluído do trânsito, foi retirada uma amostra de 0,5 cm em cada extremidade, proximal e distal, as quais foram fixadas em solução de formol 10 por cento para posterior avaliação histológica, com HE e imuno histoquímica pela proteína PS-100 para avaliação do sistema nervoso entérico. A luz distal da alça isolada foi estomizada e a proximal fechada com pontos de prolene 6-0. Esses dados foram analisados estatisticamente. RESULTADOS: Observamos uma diminuição do número de células ganglionares no plexo mioentérico do grupo submetido à isquemia e reperfusão (GIREI7) em relação ao grupo controle (GCEI7). Mann-Whitney: p=0,0173*. Comparando a variação percentual das células ganglionares do plexo mioentérico no 7°, 14° e 28° dia após procedimento nos grupos GIREI7, GIREI14 E GIREI28 observamos que não houve alterações significantes. Kruskal-Wallis p=0,6501. CONCLUSÃO: Houve uma diminuição das células ganglionares nos plexos mioentéricos devido à isquemia e reperfusão, não havendo recuperação no período pós-operatório tardio.


Subject(s)
Animals , Male , Rats , Enteric Nervous System/pathology , Intestine, Small/blood supply , Ischemia/pathology , Reperfusion Injury/pathology , Intestine, Small/pathology , Myenteric Plexus/blood supply , Myenteric Plexus/pathology , Rats, Wistar , Statistics, Nonparametric
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