Factores genéticos y ambientales asociados al fenotipo longevo / Genetic and environmental factors associated with the longevity phenotype

Introducción: La prevalencia de la longevidad en la población abierta ha aumentado en los últimos cien años. Existen coincidencias en la literatura sobre la importancia de varios factores relacionados con el estilo de vida como elementos favorecedores de la longevidad. Objetivo: Demostrar la influencia de factores genéticos y ambientales en el fenotipo longevo. Métodos: Se estudiaron 178 individuos provenientes del municipio Santa Clara: 86 longevos de 80 años y más, y 92 no longevos (menores de 80 años). A todos se les aplicó un instrumento de recogida de información genealógica sobre antecedentes de longevidad y factores genéticos y ambientales favorecedores. Para los análisis de asociación se procedió a la confección de tablas de contingencia tetracóricas. Se evaluó la asociación mediante la prueba Ji cuadrado de Mantel-Haenszel, así como V de Cramer para medir la magnitud de asociación; cuando el nivel de significación fue p<0,05, se calculó la oportunidad relativa y el intervalo de confianza al 95 %. Resultados: Las asociaciones resultaron significativas para las siguientes variables: no hábito de fumar, no beber alcohol, tener índice de masa corporal normopeso, no padecer enfermedades respiratorias, tener madre longeva, y ser del sexo femenino. Las razones de ventajas más elevadas se alcanzaron en dos factores: no padecer de enfermedades respiratorias y no beber alcohol. La asociación más fuerte fue con la longevidad de la madre (V Cramer=0,234). Conclusiones: Los factores genéticos y ambientales que, de manera consistente, se asociaron a la longevidad, indicaron que en los individuos estudiados existen factores favorecedores de la longevidad.

Introduction: prevalence of longevity in open population has increased in the last hundred years. There are coincidences in the literature on the importance of various factors related to lifestyle as elements that favour longevity. Objective: to demonstrate the influence of genetic and environmental factors on the longevity phenotype. Methods: 178 individuals from Santa Clara municipality were studied: 86 longevous people aged 80 years and over and 92 non-longevous ones aged less than 80 years. An instrument for collecting genealogical information on longevity antecedents and favorable genetic and environmental factors was applied to all of them. Tetrachoric contingency tables were prepared for the association analysis. This association was evaluated using the Mantel-Haenszel chi-square test, as well as the Cramer's V test to measure the magnitude of association; an odds ratio and a 95% confidence interval were calculated when the significance level was p<0.05. Results: the associations were significant for the following variables: not-smoking and not-drinking alcohol, not suffering from respiratory diseases, having a normal weight body mass index and a longevous mother, as well as being female. The highest odds ratios were achieved in two factors: not suffering from respiratory diseases and not drinking alcohol. The strongest association was with maternal longevity (V Cramer=0.234). Conclusions: the genetic and environmental factors that were consistently associated with longevity indicated that there are factors that favour longevity in the studied individuals.

The first instrument for complex PTSD assessment: psychometric properties of the ICD-11 Trauma Questionnaire

Objective: The ICD-11 Trauma Questionnaire (ITQ) was developed as a joint effort by researchers from several countries to evaluate post-traumatic stress (PTSD) and complex-PTSD (C-PTSD) symptoms. This study is part of a multi-center international collaborative research project that aims to provide psychometric support for this initial instrument in different languages, considering the specific contexts related to complex traumatization. This study verified the psychometric characteristics of the Portuguese version of the ITQ, evaluating symptoms beyond those described the existing literature. Methods: We examined the results of a convenience sample totaling 268 Portuguese and Angolan participants. Two instruments were applied: the ITQ, which evaluates symptoms resulting from a traumatic life event, and the Life Events Checklist (LEC), which evaluates stressful life events. The general characteristics of the scales are described, and reliability analysis and validity studies were performed. Results: Cronbach's alpha varied between 0.84 and 0.88, and the exploratory factorial analysis results were consistent with the concept of C-PTSD, with five components explaining 61.58% of scale variance. Conclusion: The results suggest good psychometric characteristics for the Portuguese version of the ITQ, and thus it can be included in protocols intended evaluating complex traumatic symptoms.

Indicators of oxidative stress in long-lived individuals belonging to the municipality of Santa Clara

Aim: To determine indicators of oxidative stress in long-lived individuals. Methods: 120 subjects were studied and two groups were formed: 50 individuals older than 85 years of nuclear families and 70 adults under 60 years old taken as a control group, all belonging to the municipality of Santa Clara. Indicators of antioxidant defense status included enzymatic activities superoxide dismutase (SOD) and catalase (CAT), as well as reduced glutathione (GSH) concentrations. The determinations were made with the use of spectrophotometric techniques, and the comparisons between the groups were made through the statistical program SPSS with a level of significance of 95 percent. Results: The activity of the antioxidant enzyme SOD and GSH levels showed significant differences when comparing both study groups. In the case of the SOD enzyme, the group of long-lived individuals showed a significant reduction in their activity compared to the controls, while GSH levels also decreased in this group. The CAT enzyme activity showed no significant differences between the two study groups. Conclusions: The decrease in enzymatic activity SOD accompanied by a decrease in GSH levels could be an indicator of a state of oxidative imbalance in individuals older than 85 years, which increases their susceptibility to the action of reactive oxygen species(AU)

Epidemiología genética en una muestra de gemelos con cáncer en Santa Clara / Genetic epidemiology in a sample of twins with cancer in Santa Clara

Objetivo: Se realizó un estudio para investigar la participación genética en el origen del cáncer y encontrar la concordancia para esta enfermedad en gemelos. Métodos: Se efectuó un estudio analítico transversal en el año 2009, y el universo se obtuvo del Registro Cubano de Gemelos en Santa Clara, constituido por 17 parejas, de las que al menos uno de los miembros estaba afectado por cáncer; se integró una muestra de 12 parejas de gemelos, las cuales tenían al menos un miembro del par actualmente vivo. Se calculó la concordancia para el par y para el caso índice, y se realizó el estimado de la heredabilidad. Se consideró como factor de riesgo la presencia de antecedentes familiares en parientes de primer grado, y cuando se comprobó riesgo, se interpretó que la probabilidad de enfermar el cogemelo monocigótico, cuando tenía antecedentes familiares, era mayor que la del dicigótico. En otro análisis, con los pares de gemelos (concordantes y discordantes), se interpretó que la presencia de familiares de primer grado afectados constituye un riesgo para que el cogemelo sea concordante. Resultados: Las concordancias para el par y para el caso índice fueron mayores en los gemelos monocigóticos. El componente genético medido por la heredabilidad fue de 16 por ciento, lo que no resultó muy elevado, y debe interpretarse con cautela. El riesgo de enfermar un cogemelo monocigótico fue de 33,3 pior ciento y el dicigótico de 25 por ciento Conclusiones: Los estudios en gemelos constituyen una vía para dilucidar el componente genético del cáncer, y las concordancias más elevadas en parejas monocigóticas atestiguaron el interés de su contribución.

Objectives: A study was carried out in order to investigate the genetic participation in the origin ofcancer, as well as, to find the concordance for this disease in twins. Methods: A transversalanalytic study was made in 2009, Santa Clara, and the universe was obtained from the CubanRegister of Twins, it was constituted by 17 couples, in which at least, one of the members wasaffected due to cancer; a sample of 12 couples of twins was integrated, considering that they had atleast, one member of the pair currently alive. Concordance for the pair and the index case wascalculated; and the estimated of heritability was performed. It was considered as a risk factor thepresence of family antecedents in first- grade relatives, and when it was proved that existed somerisk, it was interpreted that the probability of making sick the monozygotic co- twin when they hadsome family antecedents, is higher than making sick the dizygotic one. In another analysis, withpairs of twins (concordants and disconcordants), it was interpreted that the presence of first-graderelatives affected, constitutes a risk for the co- twin being concordant. Results: Concordances forthe pair and the index case were higher in monozygotic twins. The measured genetic component forthe heritability was the 16 %, which didn't mean very high, but must be interpreted with precaution.The risk of making sick a monozygotic co-twin was the 33, 3 % and a dizygotic one was the 25 %.Conclusions: The studies of twins constituted a way for clearing up the genetic component ofcancer, and the most elevated concordances in monozygotic couples confirmed the interest of itscontribution.

Alterações da função hepática de camundongos desnutridos e infectados pelo Schistosoma mansoni / Liver function abnormalities in undernourished and Schistosoma mansoni-infected mice

Existem poucos estudos sobre as alterações da função hepática em camundongos com esquistossomose associada à desnutrição. Neste trabalho, os animais foram divididos em quatro grupos, de acordo com as dietas (normal ou hipoprotéica) e infectados ou não pelo Schistosoma mansoni. Todos os grupos desenvolveram-se menos que o grupo controle (p<0,0001). A mortalidade nos animais foi devida à infecção. Níveis altos de aminotransferases nos animais nutridos e infectados sugerem um processo inflamatório intenso (p<0,0001). Todos os grupos apresentaram elevação da fosfatase alcalina. Houve aumento da aspartato transferase e da fosfatase alcalina em animais nutridos infectados. As dietas modificaram os níveis de albumina (p>0,001), e das proteínas séricas. Os grupos, comparados ao controle, mostraram baixos níveis de glicose (p<0,001). Este estudo verificou que ambas, infecção e/ou desnutrição, interferiram nos níveis dos indicadores bioquímicos, mas as alterações mais importantes da função hepática ocorreram durante a inflamação intensa causada pela esquistossomose.

There are few studies on liver function abnormalities in mice with schistosomiasis associated with malnutrition. In this study, animals were divided into four groups, according to their diet (normal or low protein) and whether they were infected with Schistosoma mansoni or not. All the groups grew slower than the control did (p < 0.0001). Mortality among the animals occurred because of the infection. High levels of aminotransferases in well-fed animals with infection suggested that there was an intensive inflammatory process (p < 0.0001). All the groups presented high levels of alkaline phosphatase. There were increases in aspartate transferase and alkaline phosphatase in infected well-fed animals. The diets modified the albumin levels (p > 0.001) and the serum proteins. Compared with the controls, the groups showed low levels of glucose (p < 0.001). This study found that both infection and malnutrition interfered with the biochemical indicator levels, but the most important liver function abnormalities occurred during the intense inflammation caused by schistosomiasis.