Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum.

Lysosomal acid lipase (LAL) deficiency is an autosomal recessive lysosomal storage disorder caused by mutations in the 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.

HISTOLOGICAL FEATURES OF EOSINOPHILIC ESOPHAGITIS IN CHILDREN AND ADOLESCENTS.

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.

Fetal-onset IPEX: report of two families and review of literature.

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.

Diagnosis of Helicobacter pylori infection by means of reduced-dose ¹³C-urea breath test and early sampling of exhaled breath.

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.

Morphometrical and immunohistochemical study of intrahepatic bile ducts in biliary atresia.

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).

Evaluation of gastric histology in children and adolescents with Helicobacter pylori gastritis using the Update Sydney System.

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.

Validation of a monoclonal stool antigen test for diagnosing Helicobacter pylori infection in young children.

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.

Intraepithelial lymphocytes in duodenum from Brazilian adolescents with type 1 diabetes. Influence of Helicobacter pylori.

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.

Gastric emptying of solids is slower in functional dyspepsia unrelated to Helicobacter pylori infection in female children and teenagers.

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.

[Functional, microbiological and morphological intestinal findings among human immunodeficiency virus infected children].

Background: [corrected] Gastrointestinal tract disorders are frequent among human immunodeficiency virus infected children, with important repercussions on nutrition and survival. Most studies related to this subject were restricted to adults, being less investigated the problem in the children.

Aims: To study intestinal digestion, absorption, microbiological and morphological findings among human immunodeficiency virus infected children.

Do lesions of the enteric nervous system occur following intestinal ischemia/reperfusion?

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.

[Analysis of clinicopathological, tumor cell proliferation and apoptosis parameters in adenocarcinoma of the gastric cardia].

Background/aims: In view of the increased incidence of carcinoma of the cardia over recent years, this work had the aim of studying the clinicopathological aspects, cell proliferative and tumor apoptotic indices of this neoplasm, their interrelations and possible influences on the prognosis.

Material And Methods: Forty cases of adenocarcinoma of the cardia were studied between 1988 and 2001, with a minimum clinical follow-up of 3 years. Patients were excluded if they had previous chemotherapy or radiotherapy treatment, presented early neoplasia, or died during the operations or for other reasons unrelated to cancer.

Furazolidone-based triple therapy for H pylori gastritis in children.

Aim: To evaluate the furazolidone-based triple therapy in children with symptomatic H pylori gastritis.

Methods: A prospective and consecutive open trial was carried out. The study included 38 patients with upper digestive symptoms sufficiently severe to warrant endoscopic investigation.

Glycine reduces tissue lipid peroxidation in hypoxia-reoxygenation-induced necrotizing enterocolitis in rats.

Purpose: To assess the protective effect of glycine in an experimental model of Neonatal Necrotizing Enterocolitis (NEC).

Methods: Fifty (50) neonatal Wistar rats, from a litter of six female rats and weighing 4 to 6 grams, were used. Five animals were cannibalized and the 45 remaining were distributed into three groups: the G1 normal control group (n=12); the G2 Group (n=16), of animals that underwent hypoxia-reoxygenation (HR); the G3 Group of animals (n=17) that underwent HR following a 5% intraperitoneal glycine infusion.

[Evaluation of an experimental model of necrotizing enterocolitis in rats].

Objective: To evaluate an experimental model of necrotizing enterocolitis in rats proposed by OKUR e col. in 1995.

Methods: On their first day of life, 28 EPM-Wistar rats weighing between 4 and 6 grams were submitted to hypoxia (H) by placing them in a CO2 gas chamber for rodents' sacrifice, where they received a 100% CO2 air flow for 5 minutes.

Evaluation of a protocol for postmortem examination of stillbirths and neonatal deaths with congenital anomalies.

A study was conducted on 75 perinatal deaths with congenital anomalies through clinical, radiographic, cytogenetic, and autopsy evaluation, and the diagnoses of 72 patients (96%) were determined. In 11 patients with chromosomal anomalies, the cytogenetic study was sufficient to determine the diagnosis and the reproductive risk. In these cases, the value of the autopsy results resided above all in the description of the clinical variability.

[Clinical and histological features of duodenal ulcer in children and adolescents].

Objective: To evaluate clinical and histological features of duodenal ulcer in children and adolescents.

Methods: Forty-three children with duodenal ulcer were prospectively and consecutively evaluated in a 6-year period (7.2 patients per year).

13C-urea breath test to diagnose Helicobacter pylori infection in children aged up to 6 years.

Background: 13C-urea breath test (13C-UBT) is an accurate noninvasive tool for diagnosis of Helicobacter pylori infection. It is considered the best method for epidemiological studies, but there are few studies to evaluate the 13C-UBT in infants and toddlers.

Aim: To evaluate the 13C-UBT performed with infrared spectroscopy in children aged up to 6 years.

[Hemorrhagic gastritis due to cow's milk allergy: report of two cases].

Objective: To report two cases of infants with hemorrhagic gastritis due to cow's milk allergy.

Description: The clinical features included hematemesis, vomiting and malnutrition. All patients had eosinophilic infiltrate in gastric biopsies and got favorable clinical outcome after cow's milk free diet.

[Allergic colitis: clinical and morphological aspects in infants with rectal bleeding].

Background: Recent studies indicate the importance of eosinophilis infiltrated in the rectal mucous which jointly with the clinical features can serve to establish the diagnostic of allergic colitis.

Aim: To describe prospectively, the clinical features and morphological abnormalities of the rectal mucosa in patients with rectal bleeding and clinical diagnosis of cow's milk allergy.

Methods: Clinical features of 20 infants under 6 months of age were described.

[Reflux esophagitis in children: histological and morphometric study].

Background: Gastroesophageal reflux disease is a frequent cause of morbidity in childhood, including esophagitis and recurrent respiratory symptoms; however histological and morphometric studies in esophageal biopsies of children are scarce.

Aim: To study histological and morphometric findings in children with reflux esophagitis.

Patients And Methods: We studied 26 esophageal biopsies of children (mean age: 4.

[Bilateral occipital calcification, epilepsy and coeliac disease: case report].

We report a case of a six-year-old girl with frequent diarrhea episodes associated with ferroprive anemia from 6 months of age, normal neuromotor development and partial seizures initiated in her 3rd year which was controlled with carbamazepine. CT scan in her 5th year of age demonstrated gyral calcifications in the occipital and posterior parietal regions bilaterally. MRI has shown low signal areas in the axial T2 sequences corresponding to the gyral calcifications evident on the CT.

13 C-urea breath test with infrared spectroscopy for diagnosing helicobacter pylori infection in children and adolescents.

Background And Objective: Studies support the accuracy of 13C-urea breath test for diagnosing and confirming cure of Helicobacter pylori infection in children. Three methods are used to assess 13CO2 increment in expired air: mass spectrometry, infrared spectroscopy, and laser-assisted ratio analysis. In this study, the 13C-urea breath test performed with infrared spectroscopy in children and adolescents was evaluated.