Polimorfismo genético relacionado al metabolismo de la aflatoxina y el riesgo de cáncer vesicular en mujeres chilenas / Aflatoxin metabolism-related genetic polymorphisms and the risk of gallbladder cancer in Chilean women

Background/aim: High consumption of red chili pepper has been shown to be a risk factor for gallbladder cancer (GBC) in Chilean women with gallstones (GS). GS are the main cause of GBC, but not all patients with gallstones develop GBC. Since red chili pepper is a widely consumed spice among the Chilean population, the development of GBC in Chilean women cannot be completely explained by the presence of GS and red chili pepper consumption alone. Genetic factors in addition to these and other environmental factors may also be associated with an increased risk of GBC. We aimed to study whether genetic polymorphisms involved in aflatoxin metabolism are associated with the risk of GBC in Chilean women, because we detected aflatoxins B1 and B2 in red chili pepper purchased in Santiago, Chile. Methods: We conducted a hospital-based case-control study whose subjects were 57 patients with GBC, 119 patients with GS, and 70 controls. DNA was extracted from subjects’ blood or paraffin block samples using standard commercial kits. The statuses of the genetic polymorphisms of cytochrome P450 (CYP) 1A2 rs762551 and CYP3A4 rs2740574 were assayed using the TaqMan® SNP Genotyping Assay or the Custom TaqMan® SNP Genotyping Assay, respectively. Results: In the assay for the CYP1A2 polymorphism, of the 57 GBC patients, 23 (40.3 percent) had at least one minor allele (A/C or C/C). However, there were no significant differences in the genotypic or allelic frequencies among the three subject groups. In the assay for the CYP3A4 polymorphism, the minor G/G genotype was not detected in the three groups, and there were no significant differences in the genotypic or allelic frequencies among the three groups. Conclusion: These genetic polymorphisms were not related to the risk of GBC in Chilean women. Further studies including a greater number of controls and cases are needed to confirm this preliminary exploratory result.

Introducción/objetivo: El alto consumo de ají rojo ha demostrado ser un factor de riesgo de cáncer vesicular (CV) en mujeres chilenas con cálculos vesiculares. Los cálculos vesiculares son la causa principal de CV, no obstante, no todos los pacientes con cálculos vesiculares desarrollan CV. Debido a que el ají rojo es una especia ampliamente consumida entre la población chilena, el desarrollo de CV en las mujeres chilenas no puede ser explicado en su totalidad sólo por la presencia de cálculos vesiculares y consumo de ají rojo. Factores genéticos además de éstos y otros factores ambientales, también podrían estar relacionados con un aumento del riesgo de CV. Nuestro objetivo es estudiar si los polimorfismos genéticos involucrados en el metabolismo de la aflatoxina están relacionados con el riesgo de CV en mujeres chilenas, porque detectamos aflatoxinas B1 y B2 en ajíes rojos comprados en Santiago de Chile. Métodos: El estudio caso control, incluyó 57 pacientes con CV, 119 pacientes con cálculos vesiculares, y 70 controles. Se extrajo ADN de la sangre de los sujetos o de bloques de parafina, usando kits comerciales estándar. El estado de los polimorfismos genéticos del citocromo P450 (CYP) 1A2 rs762551 y CYP3A4 rs2740574 fueron estudiados usando el ensayo de genotipo SNP TaqMan® o el ensayo de genotipo SNP Custom TaqMan®, respectivamente. Resultados: En el ensayo para el polimorfismo CYP1A2, de los 57 pacientes con CV, 23 (40,3 por ciento) tuvieron al menos un alelo menor (A/C o C/C). No obstante, no hubo diferencias significativas en las frecuencias genotípicas o alélicas entre los tres grupos. En el ensayo para el polimorfismo CYP3A4, el genotipo menor G/G no fue detectado en los tres grupos, y no hubo diferencias significativas en las frecuencias genotípicas o alélicas entre los tres grupos. Conclusión: Estos polimorfismos genéticos no estaban relacionados con el riesgo de CV en mujeres chilenas...

Infección por Helicobacter pylori en pacientes sintomáticos con patología gastroduodenal benigna: análisis de 5.664 pacientes / Helicobacter pylori infection in symptomatic patients with benign gastroduodenal diseases: analysis of 5.664 cases

Infection with Helicobacter pylori (H. pylori) is highly prevalent in Chile, but there are no systematic studies in patients with upper gastrointestinal symptoms. Aim: To determine the prevalence of H. pylori infection, according to age, gender and endoscopic pathology in a large sample of patients. Methods: We studied 7,893 symptomatic patients submitted to upper gastrointestinal endoscopy between July 1996 and December 2003 in the context of a screening program of gastric cancer in a high risk population. H. pylori infection was determined by rapid urease test (RUT) in antral mucosa. We excluded 158 patients with gastric cancer (2 percent) and 2,071 patients without RUT. Results: We included 5,664 patients, mean age 50.7 ± 13.9 years, women 72.1 percent. Endoscopic diagnoses were normal in 59.3 percent, erosive esophagitis in 20 percent, gastric ulcer (GU) in 8.1 percent, duodenal ulcer (DU) in 6.4 percent, and erosive gastropathy in 6.2 percent. RUT was positive in 78 percent of patients. After adjusting for age and sex and with respect to patients with normal endoscopy, frequency of H. pylori infection was 86.6 percent in DU (OR 2.1, 95 percent CI 1.5-2.8, p < 0.001); 81.4 percent in GU (OR 1.8, 95 percent CI 1.4-2.4; p < 0.001 ); 79.9 percent in erosive gastropathy (OR 1.4, 95 percent CI 1.03-1.8; p = 0.03) and 77.4 percent in erosive esophagitis (OR 1.1, 95 percent CI: 0.9-1.3; p = NS). The probability of H. pylori infection decreased significantly with age, more markedly in men with normal endoscopy. Conclusions: Prevalence of H. pylori infection is very high in symptomatic Chilean patients and even higher in those with gastroduodenal ulcer or erosions, while in patients with erosive esophagitis is similar to those with normal endoscopy. The frequency of infection decreases with age, probably as a consequence of rising frequency of gastric mucosal atrophy.

Gota en un lactante / Gout in an infant

Se presenta un caso anátomo-clínico de Gota en un paciente de 1 mes y medio de edad, cuyo diagnóstico, confirmado por la autopsia, no fue sospechado durante su evolución. Son muy pocos los casos publicados a tan corta edad y puede concluirse que se trata de un caso excepcional de interés pediátrico