ABSTRACT
RESUMO Introdução: As doenças cardiovasculares são responsáveis por alto grau de morbidade e mortalidade na população mundial. Em populações saudáveis, a estimativa do risco cardiovascular tem sido calculada a partir de modelos de predição derivados de estudos prospectivos e observacionais. O escore de Framingham é um algoritmo tradicionalmente utilizado como estratégia primária de prevenção de doenças cardiovasculares em pessoas assintomáticas em um período de 10 anos. Para a determinação desse escore são considerados como fatores de risco os níveis séricos de colesterol total, colesterol HDL, pressão sistólica, diabetes mellitus, tabagismo e idade dos pacientes. Objetivo: Avaliar se a prática de atividade física é uma variável importante capaz de modular o risco obtido pelo escore de Framingham. Métodos: Foram considerados dados de 1004 indivíduos, divididos em adultos (18 a 59 anos) e idosos (> 60 anos), usando o software Statistical Package for Social Sciences (SPSS) para as análises estatísticas e adotando-se o nível de significância de 5% (P < 0,05) para todos os testes aplicados. Resultados: A correlação entre os fatores idade, sexo, tabagismo, hipertensão arterial e níveis séricos de HDL e o escore de Framingham foi confirmada tanto no grupo adulto como no idoso. Adicionalmente, nossas análises demonstraram correlação estatisticamente significativa entre a prática de atividade física e o risco calculado por esse escore, ficando evidente que indivíduos adultos ou idosos que praticam atividade física moderada ou intensa apresentam menor risco de desenvolver doença cardiovascular num período de 10 anos. Conclusão: Nossos dados demonstram que a prática de atividade física moderada ou intensa pode modular o escore de Framingham e assim como idade, sexo, tabagismo, hipertensão arterial e níveis séricos de colesterol total e HDL, deve ser considerada entre os fatores de risco de doenças cardiovasculares.
ABSTRACT Introduction: Cardiovascular diseases are responsible for a high degree of morbidity and mortality in the world population. In healthy populations, the estimated cardiovascular risk has been calculated from predictive models derived from prospective and observational studies. The Framingham score is an algorithm traditionally used as a primary strategy to prevent cardiovascular disease in asymptomatic patients over a period of 10 years. Some risk factors are considered to determine this score such as serum levels of total cholesterol, HDL cholesterol, systolic blood pressure, diabetes mellitus, smoking and age of patients. Objective: To evaluate if the practice of physical activity is an important variable capable of modulating cardiovascular risk obtained by the Framingham score. Methods: Data from 1004 individuals, divided into adults (18 to 59 years) and elderly (>60 years) were considered using Statistical Package for Social Sciences (SPSS) software for statistical analyses and the significance level was established at 5% (P<0.05) for all tests applied. Results: The correlation between age, sex, smoking, hypertension and serum levels of HDL and the Framingham score was confirmed in both the adult and elderly group. Additionally, our analyses demonstrate a statistically significant correlation between the practice of physical activity and the risk calculated by this score, making it clear that adult or elderly individuals who practice moderate or intense physical activity have a lower risk of developing cardiovascular disease within 10 years. Conclusion: Our data demonstrate that moderate or intense physical activity can modulate the Framingham score and, as well as the age, sex, smoking, hypertension and serum levels of total cholesterol and HDL cholesterol, should be considered as a risk factor for cardiovascular diseases.
RESUMEN Introducción: Las enfermedades cardiovasculares son responsables de un alto grado de morbilidad y mortalidad en la población mundial. En las poblaciones sanas, la estimación del riesgo cardiovascular se ha calculado a partir de modelos de predicción derivados de estudios prospectivos y de observación. La puntuación de Framingham es un algoritmo usado tradicionalmente como una estrategia primaria para la prevención de la enfermedad cardiovascular en personas asintomáticas en un período de 10 años. Para determinar esta puntuación son considerados factores de riesgo como los niveles de colesterol total, colesterol HDL, presión arterial sistólica, diabetes mellitus, tabaquismo y edad de los pacientes. Objetivo: Evaluar si la actividad física es una variable importante que puede modular el riesgo obtenido por la puntuación de Framingham. Métodos: Se consideraron los datos de 1004 sujetos, divididos en adultos (18-59 años) y ancianos (> 60 años) utilizando el software Statistical Package for Social Sciences (SPSS) para el análisis estadístico, siendo adoptado el nivel de significación estadística del 5% (P < 0,05) para todas las pruebas. Resultados: La correlación entre los factores edad, sexo, tabaquismo, hipertensión y niveles séricos de HDL y la puntuación de Framingham fue confirmada tanto en el grupo de adultos como en los ancianos. Además, nuestro análisis mostró una correlación estadísticamente significativa entre la actividad física y el riesgo calculado por esta puntuación, dejando claro que los adultos o ancianos que practican actividad física moderada o intensa tienen menor riesgo de desarrollar enfermedad cardiovascular en un periodo de 10 años. Conclusión: Nuestros datos demuestran que la práctica de actividad física moderada o intensa puede modular la puntuación de Framingham y, así como edad, sexo, tabaquismo, hipertensión y los niveles séricos de colesterol total y HDL, debe ser considerada entre los factores de riesgo de enfermedad cardiovascular.
ABSTRACT
Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth disorder of complex and heterogeneous etiology involving alterations in genomic imprinting. The cause of isolated hemihyperplasia (IHH) is unknown but might be due to partial or incomplete expression of BWS because both these conditions share predisposition for the same types of neoplasias. We investigated the methylation pattern of the putative imprinting control region H19DMR using peripheral blood from 12 patients, six with clinical features of BWS and six with IHH. All the patients had normal karyotypes and paternal uniparental disomy (UPD) was excluded in 10 informative cases. The normal H19DMR methylation pattern was found in eight informative patients, indicating that H19DMR methylation was not related to their condition. We suggest that the absence of neoplasias in the BWS and IHH patients studied might be related to the absence of UPD and to the presence of normal H19DMR methylation.
Subject(s)
Humans , Male , Female , Beckwith-Wiedemann Syndrome , DNA Methylation , Genomic Imprinting , Uniparental DisomyABSTRACT
CONTEXT: Beckwith-Wiedemann syndrome is a complex and heterogeneous overgrowth syndrome with genetic and epigenetic alterations, involving genomic imprinting and cancer predisposition. Isolated hemihyperplasia is of unknown cause, and it may represent a partial or incomplete expression of Beckwith-Wiedemann syndrome. OBJECTIVES: A clinical and molecular review and proposal of the use of an experimental protocol to provide a practical approach for the physician. DATA SYNTHESIS: This review demonstrates the genetic and epigenetic mechanisms involved in the Beckwith-Wiedemann syndrome and isolated hemihyperplasia, and the candidate genes. To our knowledge, this is the first Brazilian protocol for research into these disorders. The results have been used at the Faculdade de Medicina de Ribeiräo Preto, Universidade de Säo Paulo, to elucidate the basis of Beckwith-Wiedemann syndrome and isolated hemihyperplasia, and have been applied at the Hospital Universitário of the Faculdade de Medicina. CONCLUSIONS: Elucidation of the etiological mechanisms and use of a laboratory protocol to detect alterations in these disorders may be useful for guiding the management of such patients and genetic counseling of the families