La consulta por chequeo médico en adultos / Periodic health checkup in adult

La medicina preventiva clínica nos provee de los fundamentos para realizar un chequeo médico individual en forma sistemática y profesional. Las recomendaciones de la USPSTF son un referente a tener en cuenta porque, están construídas sobre evidencias, pero deben ser adaptadas a la epidemiología y a la cultura de donde proviene el consultante. Junto con las alteraciones biológicas (biomédicas), deben ser considerados los determinantes psico-sociales dentro de los factores de riesgo, ya que pueden ser tanto o más importante para la salud de las personas, que aquellos biológicos

Preventive medicine provide a unique perspective useful, to get effective and professional clinical screening. USPSTF provide important evidence based recommendations to be considered in clinical practice; but it should be adapted according local epidemiological conditions. The psychosocial perspective should be considered together with the biomedical approach in order to improve the screening effectiveness

Prevalencia de la deleción 185AG del gen BRCA1 en mujeres chilenas con cáncer de mama / Prevalence of BRCA1 gene 185AG deletion in Chilean women with breast cancer

Background: The most important identified pathogenic factor for breast cancer is the presence of mutations in BRCA1 gene. These are associated with familial breast cancer in up to 80 percent of cases. The most frequent mutation of BRCA1 gene in Caucasian populations is the exon 2 185AG deletion. Aim: To study the presence of 185AG deletion in Chilean women with sporadic or familial breast cancer. Patients and methods: We studied 15 women with familial breast cancer, in whom at least one close relative was affected, and 40 women with sporadic breast cancer. In genomic DNA obtained from a blood sample, an allele specific polymerase chain reaction was done. This reaction allows the identification of 185AG deletion and uses two pairs of primers. One for the native form that renders a 118 base pairs product and one for the deletion that renders a 170 base pairs product, both with a respective 280 base pairs internal control. Results: The diagnosis of breast cancer was done at 40ñ5 and 65ñ10 years old in women with familial and sporadic breast cancer, respectively. In none of the samples, the amplification of the 170 base pairs band that corresponds to 185AG deletion, was obtained. In both groups, the product of the amplification was the 118 base pairs band, that corresponds to the native form of BRCA1 gene. The polymerase chain reaction was optimized for a duration of 90 minutes. Conclusions: 185AG deletion of BRCA1 gene was not detected in this group of Chilean women with sporadic or familial breast cancer