RESUMEN
Background: Congenital heart defects (CHDs) are the most common type of birth defects and a major cause of infant mortality. Although knowledge of genetic risk variants for CHDs is scarce, most cases of CHDs are considered to be due to multifactorial inheritance. Objective: To analyze the association of 14 single nucleotide polymorphic variants previously associated with a risk of CHDs in a Mexican population with isolated CHDs. Materials and Methods: DNA samples obtained from healthy subjects and from subjects with isolated atrial, ventricular, or atrioventricular septal defects living in Northeastern Mexico were analyzed by real time-polymerase chain reaction for allelic discrimination of genetic variants of the genes TBX1, TBX20, ASTX-18-AS1, AXIN1, MTHFR, NKX2.5, BMP4, and NFATc1. The odds ratios (ORs) for allele and genotype frequencies and inheritance models were obtained. Results: Forty-two patients and 138 controls were included. Two variants were found to confer a risk of CHDs: variant rs4720169 of TBX20 in which the OR for the heterozygous state was 1.88 (95% confidence interval [CI]: 1.12-3.14, p = 0.010), whereas the OR for the homozygous state was 3.82 (95% CI: 1.18-12.3, p = 0.010); and variant rs12921862 of AXIN1 in which the OR for the heterozygous state was 4.15 (95% CI: 2.42-7.10; p ≤ 0.001), whereas the OR for the homozygous state was 9.2 (95% CI: 1.31-64.7, p = 0.008) for allele A. Conclusion: Genetic variants of the TBX20 and AXIN1 genes confer a significantly increased risk of congenital septal heart defects in a population from Northeastern Mexico.
Asunto(s)
Proteína Axina/genética , Defectos de la Almohadilla Endocárdica/genética , Defectos de los Tabiques Cardíacos/genética , Proteínas de Dominio T Box/genética , Alelos , Estudios de Casos y Controles , Niño , Preescolar , Femenino , Genotipo , Humanos , Lactante , Recién Nacido , Masculino , México , Proyectos Piloto , Polimorfismo de Nucleótido Simple , Estudios ProspectivosRESUMEN
OBJECTIVE: Acute respiratory diseases occupy the first 5 places in infantile morbidity and mortality around the world, two million children directly dying from such cause annually. Environmental tobacco smoke (ETS) contains toxic and irritating compounds having an injurious effect on health, producing increased risk of morbidity and mortality in non-smoking adults and children. Our main objective was determining the association between ETS and pneumonia in children. MATERIAL AND METHODS: This was an unmatched case and controls hospital-based study. Odds ratio (OR) and 95% confidence interval (CI) were calculated. RESULTS: A total of 285 patients (142 cases and 143 controls) were studied; 47,4 % of the patients were female and average age was 4,5,+2,7. OR for patients being exposed to ETS developing pneumonia was 3,44 (CI: 2,11-5,6). DISCUSSION: Children being exposed to ETS increases the risk of developing pneumonia by more than threefold.
Asunto(s)
Neumonía/epidemiología , Neumonía/etiología , Contaminación por Humo de Tabaco/efectos adversos , Estudios de Casos y Controles , Preescolar , Femenino , Humanos , Masculino , MéxicoRESUMEN
Objetivo Las enfermedades respiratorias agudas ocupan en el mundo los primeros 5 lugares en morbilidad y mortalidad infantil, anualmente mueren más de dos millones de niños por esa causa. El humo del tabaco ambiental (HTA) contiene compuestos irritantes y tóxicos nocivos para la salud, que incrementan el riesgo de morbilidad y mortalidad en lactantes, niños y adultos no fumadores. Nuestro principal objetivo fue determinar la asociación entre HTA y la presencia de neumonías en niños. Material y métodos Se realizó un estudio de casos y controles no pareados. Se calcularon las razones de momios (RM) e intervalo de confianza 95 por ciento (IC) para cada variable. Resultados Se analizaron 285 pacientes, 142 casos y 143 controles, 47,4 por ciento femeninos, la edad promedio fue 4,5+2,7 años. La RM para expuestos al HTA fue 3,44, IC 2,1- 5,6. Discusión La exposición a HTA incrementa más de tres veces el riesgo de padecer neumonías en niños.
Objective Acute respiratory diseases occupy the first 5 places in infantile morbidity and mortality around the world, two million children directly dying from such cause annually. Environmental tobacco smoke (ETS) contains toxic and irritating compounds having an injurious effect on health, producing increased risk of morbidity and mortality in non-smoking adults and children. Our main objective was determining the association between ETS and pneumonia in children. Material and methods This was an unmatched case and controls hospital-based study. Odds ratio (OR) and 95 percent confidence interval (CI) were calculated. Results A total of 285 patients (142 cases and 143 controls) were studied; 47,4 percent of the patients were female and average age was 4,5,+2,7. OR for patients being exposed to ETS developing pneumonia was 3,44 (CI: 2,11-5,6). Discussion Children being exposed to ETS increases the risk of developing pneumonia by more than threefold.
