RESUMEN
Background: Primary lactose intolerance (PLI) is a gradual decrease of lactase activity that usually manifests at the age of 1-5 years. It has been proved that PLI is related to a single-nucleotide polymorphism of the lactase (LCT) gene. Objective: An evaluation was performed on the usefulness of genetic tests in detecting LCT 13910C>T and 22018G>A polymorphisms in diagnosing lactose intolerance in children. Methods: The study group included 99 children aged from 2 months to 16.5 years with different digestive tract symptoms. In all patients a hydrogen breath test (HBT) was conducted and blood samples were collected to determine LCT polymorphisms. PLI was defined as the presence of the 13910CC and/or 22018GG polymorphism in patients with a positive HBT result. Results: In the group younger than 6 years, no statistically significant correlation was observed between the 13910CC and/or 22018GG LCT polymorphisms and HBT result. In the group of children older than 6, a statistically significant correlation between the 13910CC (p = 0.0011) and 22018GG (p = 0.003) LCT polymorphisms and HBT result was detected. Conclusions: In children older than 6, the result of genetic testing based on LCT 13910C>T and 22018G>A polymorphisms may diagnose lactose intolerance.
Asunto(s)
Alelos , Lactasa/genética , Intolerancia a la Lactosa/diagnóstico , Intolerancia a la Lactosa/genética , Polimorfismo de Nucleótido Simple , Adolescente , Niño , Preescolar , Pruebas Genéticas , Genotipo , Humanos , LactanteRESUMEN
The aim of the study was to examine the prevalence of Helicobacter pylori (H. pylori) in children in Lódz (Poland). The study was a serological survey of IgG antibodies to H. pylori in randomly chosen 240 children aged 6 months to 17 years. The serum was tested by ELISA technique (Porton-Cambridge, England) and by immunoenzymatic test (Quidel, USA). Some aspects of the family environment were studied. We found 15% infected children under 2 years, 16.6% infected children aged 3-5 years, 28.3% aged 6-10 years and 41.6% aged 11-17 years. We observed much higher prevalence of H. pylori infection in children from poor living conditions and in children from families with seropositive adults.
Asunto(s)
Infecciones por Helicobacter/epidemiología , Helicobacter/aislamiento & purificación , Adolescente , Niño , Preescolar , Femenino , Infecciones por Helicobacter/etiología , Humanos , Lactante , Masculino , Polonia/epidemiología , Prevalencia , Factores de Riesgo , Estudios SeroepidemiológicosRESUMEN
The study evaluates the frequency of Helicobacter pylori (H. pylori) infection, as well as systemic cellular immune response to H. pylori in children with duodenal ulcer (DU). The study group comprised 47 children with DU, aged 6-17 (mean 13, 1 +/- 4, 2). H. pylori detection was based on urease test, histology, culture and serologic tests. Endoscopic and morphologic findings were analysed according to Sydney System criteria. In 12 children from the overmentioned group subsets of blood lymphocytes B and T (CD3, CD4, CD8, CD3/DR, CD19) and NK cells, some neutrophils functions (phagocytosis, chemiluminescence) and phagocytes receptors before and one month after H. pylori triple treatment were investigated. H. pylori infection was detected in 44 of the investigated children. In addition, pathologic examination revealed chronic gastritis in 44 children and chronic duodenitis in 42 of them. In immunosystemic examination decreased percentage of CD8 lymphocytes and NK cells, increased CD4/CD8 ratio, decreased mitogen-induced response and changes of function and receptor expression of neutrophils were found. After H. pylori treatment in follow-up endoscopy no ulcers were found and histologic examination did not reveal chronic active gastroduodenitis, while the rate of nonactive gastritis was increased. Eradication of H. pylori infection in 41 children and normalisation of immune parameters in 11 children were obtained. The results of our investigation indicate, that H. pylori infection plays an important role in the pathogenesis of DU in children.
Asunto(s)
Úlcera Duodenal/etiología , Gastritis/complicaciones , Infecciones por Helicobacter/complicaciones , Helicobacter pylori , Adolescente , Pruebas Respiratorias , Relación CD4-CD8 , Niño , Úlcera Duodenal/inmunología , Duodeno/patología , Mucosa Gástrica/patología , Gastritis/inmunología , Infecciones por Helicobacter/inmunología , Helicobacter pylori/inmunología , Humanos , Recuento de Leucocitos , Subgrupos Linfocitarios/inmunología , Urea/análisisRESUMEN
Mannan-binding lectin (MBL) is an important factor of innate immunity contributing to the clearance of microorganisms. Recently, an antitumourigenic role of MBL has been suggested. We investigated mbl2 genotypes, MBL concentrations, and MBL-MASP-2 complex activity in patients with ovarian cancer. The expression of both mbl2 and masp-2 genes were investigated in ovarian tissue sections. Additionally, samples from patients with other malignant and benign tumours of the reproductive tract were tested. A significantly higher incidence of MBL deficiency/insufficiency-associated genotypes was found among patients with malignant disease compared to age-matched controls. Unexpectedly, no differences in median MBL level or MBL-MASP-2 complex activity were found between the groups. This was partly a reflection of higher MBL concentrations and MBL-MASP-2 activity in cancer patients compared with healthy women carrying corresponding genotypes. MBL-specific mRNA expression was detected in several normal and malignant ovarian tissues, as well as in ovarian epithelial cell lines. Intracellular staining with MBL-specific antibodies demonstrated the presence of MBL in ovarian cell lines, and in normal as well as malignant ovarian tissue sections. In contrast, MASP-2-specific mRNA expression was detected only in the ovary tissues of patients with malignant disease. No significant changes in MBL concentration during 3 months of chemotherapy were noticed. MBL was detected in ascites and in the fluid of benign ovarian cysts. Our findings may reflect anti-tumourigenic activity of MBL protein which might suggest potential therapeutic application. However, it cannot be excluded that mbl-2 mutant alleles may be in linkage disequilibrium with an unidentified tumour susceptibility gene(s).
Asunto(s)
Lectina de Unión a Manosa/metabolismo , Neoplasias Ováricas/genética , Neoplasias Ováricas/metabolismo , Adulto , Anciano , Anciano de 80 o más Años , Línea Celular Tumoral , Femenino , Citometría de Flujo , Expresión Génica , Perfilación de la Expresión Génica , Genotipo , Haplotipos , Humanos , Inmunohistoquímica , Lectina de Unión a Manosa/análisis , Serina Proteasas Asociadas a la Proteína de Unión a la Manosa/análisis , Serina Proteasas Asociadas a la Proteína de Unión a la Manosa/metabolismo , Persona de Mediana Edad , Neoplasias Ováricas/patología , Reacción en Cadena de la Polimerasa de Transcriptasa InversaRESUMEN
The involvement of mannan-binding lectin (MBL) insufficiency in the pathogenesis of chronic gastritis (CG) in children was investigated. Blood samples were collected from 78 paediatric patients suffering from CG associated with Helicobacter pylori infection (group Hp(+)) and from 41 with the disease not associated with such an infection (group Hp(-)). Control group consisted of 77 children. The frequency of mbl-2 gene mutations and serum protein concentrations did not differ significantly in both groups as compared with controls. An expression of mbl-2 gene in gastric biopsies of CG patients was demonstrated. It was found to be stronger in H. pylori-infected children. The results presented in this paper suggest that MBL deficit/dysfunction probably does not contribute to an increased risk of CG (both associated and not associated with H. pylori infection) in children. However, MBL opsonic effect and/or the lectin pathway of complement activation may be taken into account as possible host defence mechanisms in gastric patients.
Asunto(s)
Gastritis/genética , Lectina de Unión a Manosa/genética , Adolescente , Alelos , Biopsia , Niño , Enfermedad Crónica , ADN/química , ADN/genética , Gastritis/sangre , Gastritis/inmunología , Gastritis/microbiología , Expresión Génica , Genotipo , Infecciones por Helicobacter/sangre , Infecciones por Helicobacter/genética , Infecciones por Helicobacter/inmunología , Helicobacter pylori , Humanos , Lectina de Unión a Manosa/biosíntesis , Lectina de Unión a Manosa/sangre , Reacción en Cadena de la Polimerasa , Polimorfismo de Longitud del Fragmento de Restricción , Regiones Promotoras Genéticas , Análisis de Secuencia de ADN , Estadísticas no ParamétricasRESUMEN
OBJECTIVE: To investigate the relationship between helical and coccoid forms of Helicobacter pylori and gastric epithelial cells. METHODS: Gastric antral and body biopsies were obtained from eight children, aged 10-17 yr, who underwent diagnostic gastroscopy. Specimens were processed for electron microscopy. The location of organisms and ultrastructural features were assessed with a transmission electron microscope. RESULTS: We observed two morphological forms of bacteria in three of eight H. pylori-positive patients. Helical forms were localized only in the proximity to unchanged or variously damaged mucous cells, but coccoid forms were present only above strongly damaged epithelial cells. CONCLUSION: Coccoid forms of H. pylori are closely associated with damaged gastric mucous cells. Possible explanations for this phenomenon are discussed.
Asunto(s)
Mucosa Gástrica/microbiología , Infecciones por Helicobacter/microbiología , Helicobacter pylori/ultraestructura , Adolescente , Niño , Epitelio/microbiología , Epitelio/ultraestructura , Mucosa Gástrica/ultraestructura , Infecciones por Helicobacter/patología , HumanosRESUMEN
98 subjects (78 children and 20 adults) with diagnosed food allergy underwent endoscopic and pathomorphologic evaluation of the GI mucosa (stomach, duodenum and colon). Endoscopic features of acute and chronic inflammation were found in all the analyzed segments. Typical inflammatory changes were not observed in the pathomorphologic examinations, although in half of the examined patients, inflammatory infiltrations consisting mainly of oesinophilic granulocytes were observed.
Asunto(s)
Sistema Digestivo/patología , Hipersensibilidad a los Alimentos/patología , Adolescente , Adulto , Niño , Preescolar , Endoscopía , Eosinófilos/patología , Femenino , Humanos , Masculino , Membrana MucosaRESUMEN
The aim of this study was to investigate the consequence of Helicobacter pylori eradication on gastric mucosa and antral G and D-cells. Forty children, aged 5-17 years with Helicobacter pylori infection were assessed. Helicobacter pylori was detected by a urease test and identified by serological and microbiological methods. Twenty children were again assessed after the therapy (the combination of colloid bismuth subcitrate, amoxycillin and metronidazole). Gastroscopic examination was performed and at least six bioptic specimens were taken from the antrum, body and fundus. Tissue samples, processed with the paraffin method and stained with hematoxyllin and eosin, were assessed. Monoclonal antiserum Gastrin PAP kit 516 and somatostatin PAP kit 512 (DAKO) in the peroxidase-antiperoxidase technique (PAP) have been used to detect G and D-cells. Helicobacter pylori in the gastric mucosa was demonstrated with the Giemsa method. The results show the coincidence of Helicobacter pylori infection and the count of antral G and D-cells and active chronic gastritis in children. After the treatment Helicobacter pylori was eradicated in 70% of children. In 34% of these cases the eradication was followed by a diminution of activity of gastric antral mucosa inflammation and in 20% of these children the resolution of the inflammatory infiltration in the gastric mucosa was seen. A decrease of the antral G and D-cells count and also a diminution of G/D index in these cases were observed.
Asunto(s)
Mucosa Gástrica/microbiología , Mucosa Gástrica/patología , Infecciones por Helicobacter/patología , Adolescente , Niño , Preescolar , Femenino , Mucosa Gástrica/metabolismo , Gastrinas/biosíntesis , Humanos , Inmunohistoquímica , Masculino , Somatostatina/biosíntesisRESUMEN
The aim of the study was to evaluate the incidence and the etiology of Mallory-Weiss syndrome in children. The study population comprised 2720 children aged 5 months to 18 years who had undergone upper gastrointestinal endoscopy. Mallory-Weiss syndrome was diagnosed in eight (0.3%) of the examined children. Endoscopic examination in five of them revealed linear mucosal tears, mostly above and in one case also below the gastroesophageal junction. In three children a linear scar in the lower portion of the esophagus was seen. No signs of active bleeding were revealed in any of the cases. In four children, Mallory-Weiss syndrome was accompanied by gastritis and duodenitis; two of these children had Helicobacter pylori infection. The concomitant diseases were H. pylori-positive duodenal ulcer (1), bronchial asthma and gastroesophageal reflux disease (1), carbon monoxide poisoning (1). In one case Mallory-Weiss syndrome was diagnosed in early pregnancy. Mallory-Weiss syndrome should be considered, along with others, as a cause of acute upper gastrointestinal bleeding in children. There is a great variety of etiologic factors in Mallory-Weiss syndrome in children.
Asunto(s)
Síndrome de Mallory-Weiss/epidemiología , Adolescente , Niño , Preescolar , Endoscopía Gastrointestinal , Femenino , Humanos , Incidencia , Lactante , Síndrome de Mallory-Weiss/diagnóstico , Síndrome de Mallory-Weiss/etiología , Polonia/epidemiología , Embarazo , Complicaciones del Embarazo/diagnósticoRESUMEN
Blood samples were collected over a 4-year period from 335 children (aged 1-16 years) suffering from recurrent respiratory infections and 78 controls. The patients were subdivided into four groups: I, children with no immune system defects detected (n = 101); II, children with allergies (n = 94); III, children with humoral response defects (n = 93); and IV, children with disturbances of cellular immunity (n = 66). Nineteen patients had both humoral and cellular abnormalities. All patients and controls were investigated to determine the exon 1 and promoter region variants of the mbl-2 gene. MBL serum concentrations were also determined in samples from 291 patients and 75 controls. The proportion of O (B, D or C) alleles was significantly higher in the patient group compared to controls, and this association was strongest for subgroup III. The promoter LX variant frequency was also commoner in the patients as a whole, and significantly so in subgroups II and IV. Genotypes markedly influenced MBL concentrations in all groups, and correlated with ability to activate the lectin pathway of complement activation. The strongest and most significant inverse correlations between serum MBL and respiratory disease were found in patient group III and in 17 patients with multiple humoral and/or cellular abnormalities. Among nine patients with unexpectedly low LP activity in view of their MBL concentrations, one person was found to be MASP-2 deficient. Our results indicate that mannan-binding lectin insufficiency, with or without a coexisting immune defect, is associated with the occurrence of recurrent respiratory infections in childhood, and this relationship is particularly strong and statistically significant in children with concomitant impairments of humoral immunity.
Asunto(s)
Síndromes de Inmunodeficiencia/inmunología , Lectina de Unión a Manosa/análogos & derivados , Lectina de Unión a Manosa/deficiencia , Lectina de Unión a Manosa/genética , Infecciones del Sistema Respiratorio/inmunología , Estudios de Casos y Controles , Niño , Preescolar , Complemento C4b/análisis , Exones , Genotipo , Humanos , Lectina de Unión a Manosa/sangre , Serina Proteasas Asociadas a la Proteína de Unión a la Manosa , Mutación , Regiones Promotoras Genéticas , Recurrencia , Serina Endopeptidasas/genética , Estadísticas no Paramétricas , Linfocitos T/inmunologíaRESUMEN
The lectin pathway of complement activation is used by a collectin, mannan-binding lectin (MBL), and two ficolins, L-ficolin and H-ficolin, to opsonize microorganisms for phagocytosis. We published evidence recently that MBL insufficiency is associated with recurrent respiratory infections in childhood. We have now measured serum L-ficolin in 313 respiratory infection patients and 74 healthy control children. L-ficolin concentrations below the lower limit of the control group were found in 6% of the patients (P <0.02) and were associated most strongly with children having co-existing atopic disorders (11%; P=0.002). We suggest that L-ficolin may have a role in protection from microorganisms complicating allergic disease.