Browsing by Author "Miquel, Isabel"
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Item Accuracy of a Genetic Test for the Diagnosis of Hypolactasia in Chilean Children: Comparison With the Breath Test.(Philadelphia, PA : Lippincott Williams & Wilkins, 2016) Alliende, Francisco; Vial, Cecilia; Espinoza, Karen; Schnettle, Daniela; Romero, Victoria; Miquel, Isabel; Arancibia, María Eugenia; Ríos, Gloria; Rodríguez, Lorena; Quesada, Soledad; Lucero, Yalda; Repetto, GabrielaBACKGROUND: Lactase nonpersistence (LNP) in humans is a genetically determined trait. This age-dependent decrease of lactase expression is most frequently caused by single nucleotide polymorphisms in the regulatory region of the lactase (LCT) gene. The homozygous LCT-13,910C/C genotype (rs 4988235) predominates in Caucasian adults with LNP, and is useful for its diagnosis in this population. The accuracy of this genetic test (GT) has not been completely established in children or in a Latin-American population. OBJECTIVES: The aim of the study was to determine diagnostic accuracy of GT for LNP in Chilean children using the lactose breath test (BT) as a reference, and to compare diagnostic yield in preschool- (<6 years) and in school-age (≥6 years) children. METHODS: Children referred for BT for diagnosis of lactose malabsorption to the Gastroenterology Laboratory at Clínica Alemana, Santiago, from October 2011 to March 2012 were invited to participate. After informed consent, symptom questionnaires, both historic and post lactose ingestion were completed. H2 and CH4 in expired air and -13,910 C>T single nucleotide polymorphism by polymerase chain reaction, restriction enzyme analysis, and/or Sanger sequencing were determined. GT accuracy was calculated compared to BT as reference method. Diagnostic yield of GT in preschool- and school-age children was compared. RESULTS: Lactose malabsorption was detected by BT in 42 of 60 children (70%). Genotype -13,910C/C was identified in 41 of 60 patients (68%). GT showed 80% sensitivity, 63% specificity, and 74% accuracy for LNP in the preschool population. In school-age children values were higher, 85%, 80%, and 84%, respectively. CONCLUSIONS: GT results were significantly concordant with BT results for hypolactasia detection in Chilean children, particularly in those of age 6 years and older.Item Association of Cow's Milk Protein Allergy Prevalence With Socioeconomic Status in a Cohort of Chilean Infants(2020-09) Arancibia, María; Yalda, Lucero; Miquel, Isabel; Marchant, Pamela; Rodríguez, Lorena; Alliende, Francisco; Ríos, Gloria; Maturana, AndrésObjectives: The aim of the study was to compare the cow's milk protein allergy (CMPA) prevalence in 2 cohorts of children from different socioeconomic strata. Methods: Prospective birth cohort that included patients from 2 hospitals providing care for a low- and high-income population, respectively. Healthy newborns >= 34 gestational weeks were recruited and followed up to 12 months by a monthly telephone survey. If >= 2 predefined symptoms/signs suggestive of CMPA were detected, the patient was evaluated by a pediatric gastroenterologist. Diagnosis was confirmed by exclusion diet followed by open oral food challenge. Results: Overall the prevalence of CMPA was 5.2%, with a 6 times higher prevalence in the high income cohort (9.2%) compared with the low-income group (1.5%; relative risk 6.2; 95% confidence interval 1.8-20.7;P = 0.0005). All the cases were non-immunoglobulin E-mediated with predominantly gastrointestinal symptoms. High-income cohort did have higher frequency of Csection, mother's previous chronic disease, mother's history of atopy/food allergy, older age, and higher educational level of parents. Parent smoking and presence of pets at home were more frequent in the low-income cohort. Multiple logistic regression showed that the high-income cohort did have older age and higher educational level of both parents. Conclusion: In these cohorts the prevalence of CMPA was higher than reported previously in other developing countries and significantly higher in the high-income group. Our findings were associated with sociodemographic characteristics of the parents.Item Limpieza intestinal para colonoscopia en niños: efectividad, adherencia y efectos adversos de esquemas diferenciados por edad(Sociedad Chilena de Pediatria, 2017) Miquel, Isabel; Arancibia, María Eugenia; Alliende, Francisco; Ríos, Gloria; Rodríguez, Lorena; Lucero, Yalda; Saelzer, EricIntroduction: Adequate intestinal cleanliness is crucial to achieve optimal colonoscopy performance. Several bowel preparation (BP) schemes have been proposed, but there is still no consensus as regards which is the most suitable in paediatric patients. Objective: To describe the effectiveness, adherence, and adverse effects of BP protocols differentiated by age group in paediatric patients subjected to colonoscopy. Patients and Method: Prospective study that included patients < 18 years subjected to colonoscopy. BP protocols differentiated by age group were indicated as follows: < 6 m (glycerine suppository); 6 m-3y 11 m (poly-ethylene-glycol (PEG 3350 without electrolytes); 4y-9y 11 m (PEG 3350 without electrolytes + bisacodyl); 10 y-18 y (PEG 3350 with electrolytes). Demographic, clinical information, adherence and adverse effects were registered. Effectiveness was determined using a validated scale (Boston modified) during colonoscopy. Results: A total of 159 patients were included, of which 87 (55%) were males, and with a median age of 4 years (range 1 m-17 years). Seventy eight percent of patients achieved successful BP. The higher effectiveness was observed in the groups of < 6 m (96%) and 10-18 y (91%). Constipation was significantly more frequent (29%) in the 4 yo-9 yo 11 m in which lower effectiveness was observed (69%). Good adherence was observed in 87% of patients. Adverse effects were observed in a third of patients, although they were mild and did not lead to the suspension of the BP. Conclusions: Satisfactory results were achieved with the BP schemes used, with a successful BP being obtained in 4 out of 5 patients. Results were different between groups, which is probably related to previous bowel transit and indicated medication