BRCA1 and BRCA2 founder mutations account for 78% of germline carriers among hereditary breast cancer families in Chile.

Identifying founder mutations in BRCA1 and BRCA2 in specific populations constitute a valuable opportunity for genetic screening. Several studies from different populations have reported recurrent and/or founder mutations representing a relevant proportion of BRCA mutation carriers. In Latin America, only few founder mutations have been described. We screened 453 Chilean patients with hereditary breast cancer for mutations in BRCA1 and BRCA2. For recurrent mutations, we genotyped 11 microsatellite markers in BRCA1 and BRCA2 in order to determine a founder effect through haplotype analysis. We found a total of 25 mutations (6 novel) in 71 index patients among which, nine are present exclusively in Chilean patients. Our analysis revealed the presence of nine founder mutations, 4 in BRCA1 and 5 in BRCA2, shared by 2 to 10 unrelated families and spread in different regions of Chile. Our panel contains the highest amount of founder mutations until today and represents the highest percentage (78%) of BRCA1 and BRCA2 mutation carriers. We suggest that the dramatic reduction of Amerindian population due to smallpox and wars with Spanish conquerors, a scarce population increase during 300 years, and the geographic position of Chile constituted a favorable scenario to establish founder genetic markers in our population

A multiscale climate emulator for long-term morphodynamics (MUSCLE-morpho)

Interest in understanding long-term coastal morphodynamics has recently increased as climate change impacts become perceptible and accelerated. Multiscale, behavior-oriented and process-based models, or hybrids of the two, are typically applied with deterministic approaches which require considerable computational effort. In order to reduce the computational cost of modeling large spatial and temporal scales, input reduction and morphological acceleration techniques have been developed. Here we introduce a general framework for reducing dimensionality of wave-driver inputs to morphodynamic models. The proposed framework seeks to account for dependencies with global atmospheric circulation fields and deals simultaneously with seasonality, interannual variability, long-term trends, and autocorrelation of wave height, wave period, and wave direction. The model is also able to reproduce future wave climate time series accounting for possible changes in the global climate system. An application of long-term shoreline evolution is presented by comparing the performance of the real and the simulated wave climate using a one-line model

A multiscale climate emulator for long-term morphodynamics (MUSCLE-morpho)

Interest in understanding long-term coastal morphodynamics has recently increased as climate change impacts become perceptible and accelerated. Multiscale, behavior-oriented and process-based models, or hybrids of the two, are typically applied with deterministic approaches which require considerable computational effort. In order to reduce the computational cost of modeling large spatial and temporal scales, input reduction and morphological acceleration techniques have been developed. Here we introduce a general framework for reducing dimensionality of wave-driver inputs to morphodynamic models. The proposed framework seeks to account for dependencies with global atmospheric circulation fields and deals simultaneously with seasonality, interannual variability, long-term trends, and autocorrelation of wave height, wave period, and wave direction. The model is also able to reproduce future wave climate time series accounting for possible changes in the global climate system. An application of long-term shoreline evolution is presented by comparing the performance of the real and the simulated wave climate using a one-line model.Keywords: climate variability, long-term, morphodynamics, multivariate wave climate emulator, statistical downscaling, climate changeKeywords: climate variability, long-term, morphodynamics, multivariate wave climate emulator, statistical downscaling, climate chang

Performance assessment of the database downscaled ocean waves (DOW) on Santa Catarina coast, South Brazil

ABSTRACT: This work presents a validation of wave parameters from the new sixty years Downscaled Ocean Waves (DOW) reanalysis database. This study compares quantiles of the Gumbel distribution of Hs (significant wave height) and Tp (peak period) from simulated data with an 11 months' time series obtained from a buoy moored seaward on the Santa Catarina coast. Analysis by means of Gumbel distribution quantiles allows more weight to be given to the highest values of the time series, which are especially important in design projects. The statistical parameters used to verify the fit between the measured and the modeled data included: RMSE, BIAS, Scatter Index and Pearson Correlation Coefficient. Mean direction (9m) validation was conducted qualitatively. The database showed good fit of the mean conditions, especially Hs which was well Reproduced by the wave model. Underestimation of Tp, related mainly to the low spatial and temporal resolution of wind data used to generate waves, highlights this general modeling problem. Based on calculated statistical parameters, DOW data were considered comparable to the values obtained by measurements; however, such data must be cautiously used for extreme events analysis and in areas of bimodal sea conditions, where major deficiencies in the database were observed.The authors are also thankful to the Brazilian government through the Ministério do Meio Ambiente (MMA) and the Agência Brasileira de Cooperação (ABC) for the financial support of this research (within the project Transference of Methodologies and Tools to Support the Brazilian Coastal Management)

Prophylactic mastectomy versus surveillance for the prevention of breast cancer in women's BRCA carriers

Resumen INTRODUCCIÓN Las mujeres que poseen mutaciones en genes BRCA tienen un alto riesgo de desarrollar cáncer de mama. Por lo anterior, se han planteado múltiples estrategias preventivas dentro de las cuales se encuentra la mastectomía profiláctica. Existe controversia sobre si los beneficios de esta intervención superan al de una vigilancia activa, en especial considerando el impacto físico y psicológico asociado. MÉTODOS Para responder esta pregunta utilizamos Epistemonikos, la mayor base de datos de revisiones sistemáticas en salud, la cual es mantenida mediante búsquedas en múltiples fuentes de información, incluyendo MEDLINE, EMBASE, Cochrane, entre otras. Extrajimos los datos desde las revisiones identificadas, analizamos los datos de los estudios primarios, realizamos un metanálisis y preparamos una tabla de resumen de los resultados utilizando el método GRADE. RESULTADOS Y CONCLUSIONES Identificamos 13 revisiones sistemáticas que en conjunto incluyen 50 estudios primarios. Concluímos que si bien la mastectomía profiláctica se asocia a efectos adversos frecuentes, reduce la incidencia de cáncer de mama y la mortalidad, y podría asociarse a altos niveles de satisfacción

626. Pescadores artesanales, Estado nacional y modernización capitalista en los espacios litorales y marítimos de Chile en el siglo XX

This article seeks to show how the relationships between the different actors involved in the productive activity of fishing in Chile, during the 20th century, were modified by the introduction of capital as a new phenomenon favored by the State. These new relations took place within the framework of a tension between productivist and conservationist models on the part of the State and an industrial capital interested in the large-scale exploitation of the ocean, as well as in a concern for the environment that challenges the institutional framework and the environment resistance and adaptation of artisanal fishermen to these modifications.Este artículo busca evidenciar cómo las relaciones entre los distintos actores involucrados en la actividad productiva de la pesca en Chile, durante el siglo XX, fueron modificadas por la introducción del capital como un nuevo fenómeno propiciado por el Estado. Estas nuevas relaciones se dieron en el marco de una tensión entre modelos productivistas y conservacionistas por parte del Estado y un capital industrial interesado en la explotación a gran escala del océano, así como en una preocupación por el medio ambiente que interpela a la institucionalidad y la resistencia y adaptación de los pescadores artesanales a estas modificaciones. Así, este artículo plantea que la tensión provocada por el Estado generó políticas públicas que incentivaron la entrada de la pesca industrial y el cercamiento en la configuración social y geográfica de la pesca artesanal

ATM allelic variants associated to hereditary breast cancer in 94 Chilean women: susceptibility or ethnic influences?

Artículo de publicación ISIBesides BRCA1 and BRCA2, two genes accounting for a small proportion of breast cancer cases, ATM has been widely proposed as a low-penetrance susceptibility gene. Several nucleotide changes have been proposed to be associated with breast cancer, still remaining a high controversy in this sense. We screened the ATM gene in 94 breast cancer patients selected from 78 high-risk families, not presenting a mutation in BRCA1 or BRCA2. We found three novel allelic variants: IVS64 + 51delT and p.L752L, not showing association with hereditary breast cancer, and p.L694L found in one family in two breast cancer patients. Two amino acid substitutions p.S707P and p.F858L, previously reported to be associated with breast cancer, were present in our study in cases and controls, lacking of association with breast cancer. A positive association of c.5557G>A (p.D1853N) was found (OR 2.52, P = 0.008), when analyzed alone and in combination with an intronic variant IVS24-9delT (OR 3.97; P = 0.0003). We postulate that our discrepancies with other reports related to the associated ATM alleles to hereditary breast cancer, as well as discrepancies in the literature between other groups, could be explained by the diversity in the ethnic origins of families gathered in a sole study, and the selection of the control group. In relation to this issue, and based on genetic markers, we found that the Chilean group of breast cancer families in this study has a stronger European genetic component than our control sample selected randomly from the Chilean population

ANGÚSTIA PSICOLÓGICA, CONSCIÊNCIA DA MORTALIDADE E FADIGA LABORAL NOS PROFISSIONAIS DE SAÚDE DURANTE O TRABALHO EM PANDEMIAS

La pandemia de Covid-19 ha causado una tensión extrema en los sistemas de salud. Los trabajadores involucrados directa o indirectamente en el tratamiento de los pacientes han experimentado un aumento de la carga de trabajo y de eventos negativos asociados a la falta de tratamientos efectivos, la elevada mortalidad y la posibilidad del colapso sanitario Objetivo: Caracterizar mediante una encuesta respondida por 1009 profesionales de la salud, la autopercepción de síntomas de ansiedad, depresión, desgaste laboral y trastornos del sueño, así como de la conciencia de mortalidad durante el trabajo en pandemia por Covid-19. Métodos: Se aplicó una encuesta autoadministrada, elaborada ad hoc en Google Forms. Los datos estadísticos se analizaron mediante el programa RStudio. Resultados: El 35% de los encuestados presentó síntomas de depresión, el 45% de ansiedad, el 78% de alteraciones del sueño y en el 15% se evidenció desgaste profesional, mientras que en el 67% aumentó la conciencia de mortalidad. Los factores más relacionados con la presencia de malestar psíquico son: el trabajo directo con pacientes con Covid-19, el género femenino, la menor edad y la profesión de enfermería.  Conclusiones: Los profesionales de la salud que se encuentran involucrados directamente en la atención a pacientes contagiados con Covid-19, experimentan síntomas, que en su conjunto constituyen la evidencia del malestar psíquico asociado al trabajo con un gran número de personas que sufren, simultáneamente, una enfermedad potencialmente letal y que ha generado también cambios en la conciencia de mortalidad. El presente estudio contribuye a la objetivación de los desfavorables efectos del trabajo en pandemia sobre los trabajadores sanitarios y aporta evidencias para el desarrollo de medidas de cuidado psicofísico, en una situación que se mantiene tensa, en virtud de las sucesivas olas de contagios.     The Covid-19 pandemic has caused extreme stress on healthcare systems. Workers directly or indirectly involved in the treatment of patients have experienced increased workload and negative events associated with the lack of effective treatments, high mortality and the possibility of health care collapse Objective: To characterize through a survey answered by 1009 health care professionals, the self-perception of symptoms of anxiety, depression, job burnout and sleep disorders, as well as awareness of mortality during work in the Covid-19 pandemic. Methods: A self-administered survey, developed ad hoc in Google Forms, was administered. Statistical data were analyzed using RStudio software. Results: 35% of the respondents presented symptoms of depression, 45% anxiety, 78% sleep disturbances and 15% showed professional burnout, while 67% had increased awareness of mortality. The factors most related to the presence of psychic distress are: direct work with patients with Covid-19, female gender, younger age and nursing profession.  Conclusions: Health professionals who are directly involved in the care of patients infected with Covid-19 experience symptoms, which together constitute evidence of the psychic distress associated with working with a large number of people who suffer, simultaneously, from a potentially lethal disease and which has also generated changes in mortality awareness. The present study contributes to the objectification of the unfavorable effects of pandemic work on health care workers and provides evidence for the development of psychophysical care measures in a situation that remains tense due to successive waves of contagions.A pandemia de Covid-19 causou uma tensão extrema nos sistemas de saúde. Os trabalhadores directa ou indirectamente envolvidos no tratamento de pacientes sofreram um aumento da carga de trabalho e eventos negativos associados à falta de tratamentos eficazes, elevada mortalidade e possibilidade de colapso dos cuidados de saúde Objectivo: Caracterizar através de um inquérito respondido por 1009 profissionais de saúde, a auto-percepção dos sintomas de ansiedade, depressão, esgotamento do trabalho e distúrbios do sono, bem como a consciência da mortalidade durante o trabalho na pandemia de Covid-19. Métodos: Um inquérito auto-administrado, desenvolvido ad hoc em Google Forms, foi administrado. Os dados estatísticos foram analisados utilizando o software RStudio. Resultados: 35% dos inquiridos mostraram sintomas de depressão, 45% de ansiedade, 78% de distúrbios do sono e 15% de esgotamento profissional, enquanto 67% mostraram uma maior consciência da mortalidade. Os factores mais relacionados com a presença de sofrimento psicológico são: trabalho directo com doentes de Covid-19, sexo feminino, idade mais jovem e profissão de enfermagem.  Conclusões: Os profissionais de saúde que estão directamente envolvidos no tratamento de doentes infectados com Covid-19 experimentam sintomas que, no seu conjunto, constituem provas do sofrimento psicológico associado ao trabalho com um grande número de pessoas que sofrem simultaneamente de uma doença potencialmente letal e que também gerou alterações na consciência da mortalidade. O presente estudo contribui para a objectivação dos efeitos desfavoráveis do trabalho pandémico nos trabalhadores da saúde e fornece provas para o desenvolvimento de medidas de cuidados psicofísicos numa situação que permanece tensa devido a sucessivas ondas de infecção

Manual de elaboración de proyectos deportivos para alumnos de Pedagogía en Educación Física

Tesis (Profesor de Educación Física, Licenciado en Educación)Desde la creación de la Ley del Deporte (Ley 19712), promulgada en el año 2001, ha habido una importante preocupación por parte de los organismos encargados del fomento y difusión. La inyección de recursos destinados a la práctica deportiva va en alza, donde la promoción de la actividad física cada vez es mayor. Como dice el Artículo 2° de esta ley “es deber del estado crear condiciones necesarias para el ejercicio, fomento, protección y desarrollo de las actividades físicas y deportivas, estableciendo al efecto una política nacional del deporte orientada a la consecución de tales objetivos”, es de esta manera que, debido a una carencia detectada en el área de la gestión institucional y deportiva en las mallas curriculares impartidas a lo largo del país en la educación física se ha vuelto necesario el poder orientar a los docentes de la educación física en el ámbito de la gestión y obtención de recursos con el fin de concretar proyectos deportivos, ya sea financiados por el estado, por medio del Instituto Nacional del Deporte o bien financiados por privados