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1.
Front Med (Lausanne) ; 10: 1258395, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37964883

RESUMEN

Background and aims: Latin American populations remain underrepresented in genetic studies of inflammatory bowel diseases (IBDs). Most genetic association studies of IBD rely on Caucasian, African, and Asian individuals. These associations have yet to be evaluated in detail in the Andean region of South America. We explored the contribution of IBD-reported genetic risk variants to a Chilean cohort and the ancestry contribution to IBD in this cohort. Methods: A total of 192 Chilean IBD patients were genotyped using Illumina's Global Screening Array. Genotype data were combined with similar information from 3,147 Chilean controls. The proportions of Aymara, African, European, and Mapuche ancestries were estimated using the software ADMIXTURE. We calculated the odds ratios (ORs) and 95% confidence intervals (CIs) for gender, age, and ancestry proportions. We also explored associations with previously reported IBD-risk variants independently and in conjunction with genetic ancestry. Results: The first and third quartiles of the proportion of Mapuche ancestry in IBD patients were 24.7 and 34.2%, respectively, and the corresponding OR was 2.30 (95%CI 1.52-3.48) for the lowest vs. the highest group. Only one variant (rs7210086) of the 180 reported IBD-risk SNPs was associated with IBD risk in the Chilean cohort (adjusted P = 0.01). This variant is related to myeloid cells. Conclusion: The type and proportion of Native American ancestry in Chileans seem to be associated with IBD risk. Variants associated with IBD risk in this Andean region were related to myeloid cells and the innate immune response.

2.
Int J Mol Sci ; 24(19)2023 Oct 03.
Artículo en Inglés | MEDLINE | ID: mdl-37834314

RESUMEN

Lactose intolerance (LI) and vitamin D deficiency (VDD) have been linked to inflammatory bowel disease (IBD). We conducted an observational study in 192 Chilean IBD patients to investigate the prevalence of a specific gene variant (LCT-13910 CC genotype) associated with LI and the prevalence of VDD/Vitamin D Receptor (VDR) gene variants. Blood samples were analyzed using Illumina's Infinium Global Screening Array. The LCT-13910 CC genotype was found in 61% of IBD patients, similar to Chilean Hispanic controls and lower than Chilean Amerindian controls. The frequency of the LCT-13910-C allele in Chilean IBD patients (0.79) was comparable to the general population and higher than Europeans (0.49). Regarding VDR and VDD variants, in our study, the rs12785878-GG variant was associated with an increased risk of IBD (OR = 2.64, CI = 1.61-4.32; p-value = 0.001). Sixty-one percent of the Chilean IBD cohort have a genetic predisposition to lactose malabsorption, and a significant proportion exhibit genetic variants associated with VDD/VDR. Screening for LI and VDD is crucial in this Latin American IBD population.


Asunto(s)
Enfermedades Inflamatorias del Intestino , Lactosa , Receptores de Calcitriol , Humanos , Chile/epidemiología , Predisposición Genética a la Enfermedad , Genotipo , Enfermedades Inflamatorias del Intestino/epidemiología , Enfermedades Inflamatorias del Intestino/genética , Enfermedades Inflamatorias del Intestino/complicaciones , Lactosa/deficiencia , Polimorfismo de Nucleótido Simple , Prevalencia , Receptores de Calcitriol/genética , Vitamina D , Deficiencia de Vitamina D/complicaciones , Deficiencia de Vitamina D/epidemiología , Deficiencia de Vitamina D/genética
3.
Medicine (Baltimore) ; 101(36): e30216, 2022 Sep 09.
Artículo en Inglés | MEDLINE | ID: mdl-36086782

RESUMEN

Inflammatory bowel disease (IBD), including ulcerative colitis (UC) and Crohn disease (CD), has emerged as a global disease with an increasing incidence in developing and newly industrialized regions such as South America. This global rise offers the opportunity to explore the differences and similarities in disease presentation and outcomes across different genetic backgrounds and geographic locations. Our study includes 265 IBD patients. We performed an exploratory analysis of the databases of Chilean and North American IBD patients to compare the clinical phenotypes between the cohorts. We employed an unsupervised machine-learning approach using principal component analysis, uniform manifold approximation, and projection, among others, for each disease. Finally, we predicted the cohort (North American vs Chilean) using a random forest. Several unsupervised machine learning methods have separated the 2 main groups, supporting the differences between North American and Chilean patients with each disease. The variables that explained the loadings of the clinical metadata on the principal components were related to the therapies and disease extension/location at diagnosis. Our random forest models were trained for cohort classification based on clinical characteristics, obtaining high accuracy (0.86 = UC; 0.79 = CD). Similarly, variables related to therapy and disease extension/location had a high Gini index. Similarly, univariate analysis showed a later CD age at diagnosis in Chilean IBD patients (37 vs 24; P = .005). Our study suggests a clinical difference between North American and Chilean IBD patients: later CD age at diagnosis with a predominantly less aggressive phenotype (39% vs 54% B1) and more limited disease, despite fewer biological therapies being used in Chile for both diseases.


Asunto(s)
Colitis Ulcerosa , Enfermedad de Crohn , Enfermedades Inflamatorias del Intestino , Chile/epidemiología , Colitis Ulcerosa/genética , Etnicidad , Humanos , Enfermedades Inflamatorias del Intestino/diagnóstico , América del Norte/epidemiología , Fenotipo
4.
J Transplant ; 2017: 5646858, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-28246556

RESUMEN

Background. Tacrolimus is the primary immunosuppressive drug used in kidney transplant patients. Replacing brand name products with generics is a controversial issue that we studied after a Chilean Ministry of Health mandate to implement such a switch. Methods. Forty-one stable Prograf (Astellas) receiving kidney transplant patients were switched to a generic tacrolimus (Sandoz) in a 1 : 1 dose ratio and were followed up for up to 8 months. All other drugs were maintained as per normal practice. Results. Neither tacrolimus doses nor their trough blood levels changed significantly after the switch, but serum creatinine did: 1.62 ± 0.90 versus 1.75 ± 0.92 mg/dL (p < 0.001). At the same time, five graft biopsies were performed, and two of them showed cellular acute rejection. There were nine infectious episodes treated satisfactorily with proper therapies. No patient or graft was lost during the follow-up time period. Conclusion. Switching from brand name tacrolimus to a generic tacrolimus (Sandoz) is feasible and appears to be safe, but it must be monitored carefully by treating physicians.

5.
Cienc. enferm ; 20(2): 93-101, ago. 2014.
Artículo en Español | LILACS | ID: lil-724780

RESUMEN

Durante los últimos años la sociedad ha experimentado profundos cambios en materia de salud. Estos cambios se deben a una serie de factores del entorno que gatillan el desarrollo de determinados estilos de vida, pudiendo ser éstos de riesgo o protectores para la salud de las personas. Objetivo: Indagar respecto al concepto de estilo de vida y los estilos de vida de estudiantes universitarios iberoamericanos según la evidencia disponible. Material y método: Se realizó una revisión bibliográfica, manual y electrónica de artículos vinculados a estilos de vida en población universitaria iberoamericana a partir del año 2002. Adicionalmente, se recabó información referida al concepto de estilos de vida y se recopilaron antecedentes estadísticos disponibles del Ministerio de Salud de Chile y de otras entidades que investigan estilos de vida en los jóvenes. Resultados: La mayor parte de los trabajos desarrollados han estudiado de manera descriptiva los estilos de vida. La alimentación y ejercicio, la conducta sexual, el consumo de tabaco, alcohol y drogas, son las prácticas más estudiadas. Conclusión: Los jóvenes universitarios son una población vulnerable que debe ser investigada de manera particular, para crear y evaluar programas de intervención acorde a sus necesidades.


During the last years, our society has experienced profound changes on health matters. These changes are due to a number of environmental factors that trigger the development of certain lifestyles which could either endanger or protect people's health. Objective: To research about the concept of lifestyle and Iberoamerican university students' lifestyles considering the available evidence. Methods: A manual and electronic bibliographic review of articles concerning lifestyles in a Iberoamerican university population from the year 2002, was done. In addition, information about the concept of lifestyles and statistical data available from the Ministry of Health in Chile and other research organizations about young people's lifestyles, were collected. Results: Most of the researches carried out, have studied lifestyles in a descriptive form. Nutrition and physical exercising, sexual behavior, tobacco, alcohol and drug consumption are the most studied habits. Conclusions: Young university students are a vulnerable population that must be studied in a particular way in order to create and assess intervention programs according to their needs.


Asunto(s)
Humanos , Masculino , Adolescente , Adulto , Femenino , Adulto Joven , Estilo de Vida , Estudiantes , Américas , Factores de Riesgo , España , Universidades
6.
Cienc. enferm ; 10(1): 41-56, jun. 2004. ilus, tab
Artículo en Español | LILACS | ID: lil-366201

RESUMEN

La presente investigación tuvo como objetivo valorar las conductas de autocuidado y manifestaciones características de la mujer del período perimenopáusico, y su relación con el perfil bio demográfico y social de estas, entre los 45 y 54 años. Se trata de un estudio explicativo, transversal, correlacional. La muestra estuvo formada por 148 mujeres de la comuna de Concepción, Octava Región, Chile. Los instrumentos recolectores de datos utilizados fueron: Cuestionario elaborado por la autora de este estudio, sobre antecedentes generales de la mujer en periodo perimenopáusico, Cuestionario especifico de Calidad de Vida en la menopausia, Universidad de Toronto adaptado por la Fundación PROSAM en Chile en 1997 y Cuestionario de autocuidado de Voda. El análisis de los datos fue a través de estadística descriptiva y prueba de ANOVA. De acuerdo con los resultados de este estudio, el perfil bio demográfico y social de las mujeres no influenciaría la aparición de manifestaciones características del período, y las actividades de autocuidado generadas por las mujeres serían independientes de estos perfiles. Entre las manifestaciones observadas, las vasomotoras no son significativas; de las manifestaciones psicológicas, lo más sobresaliente es la presencia de nerviosismo y ansiedad, como también sentirse deprimida o triste. Priman las manifestaciones físicas, principalmente presencia de flatulencia, gases o hinchazón abdominal, los dolores musculares y/o articulares, cansancio, disminución de la fuerza y de la resistencia física como también cambios en el deseo sexual y el evitar las relaciones sexuales. Las actividades de autocuidado que más se destacan, son las de promoción de bienestar, percibiéndose la necesidad de recibir mayor información respecto a este período de sus vidas, el cual es necesario enfrentarlo, desde un punto de vista sanitario y social con una programación acorde y la misma naturalidad con que se enfrentan otras etapas de la mujer, como la reproductiva, pero contando con el apoyo adecuado y necesario para su bienestar.


Asunto(s)
Humanos , Femenino , Climaterio , Promoción de la Salud , Autocuidado , Mujeres , Salud de la Mujer , Chile
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