Browsing by Author "Gonzalez, Patricio"

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    Aspectos médicos, éticos y legales de la criopreservación de embriones humanos
    (Sociedad Médica de Santiago, 2014) Beca, Juan Pablo; Lecaros, Juan Alberto; Gonzalez, Patricio; Sanhueza, Pablo; Mandakovic, Borislava
    Embryo cryopreservation improves efficiency and security of assisted reproduction techniques. Nonetheless, it can be questionable, so it must be justified from technical, legal and ethical points of view. This article analyses these perspectives. Embryo cryopreservation maximizes the probability of pregnancy, avoids new ovary stimulations and reduces the occurrence of multiple gestations. There is consensus that the in vitro embryo deserves legal protection by its own, although not as a newborn. Very few countries prohibit embryo cryopreservation based on the legal duty to protect human life since fecundation. Those countries that allow it, privilege women’s reproductive rights. In Chile and in Latin America, no laws have been promulgated to regulate human assisted reproduction. The moral status of the embryo depends on how it is considered. Some believe it is a potential person while others think it is just a group of cells, but all recognize that it requires some kind of respect and protection. There is lack of information about the number of frozen embryos and their final destination. As a conclusion the authors propose that women or couples should have the right to decide autonomously, while institutions ought to be clear in their regulations. And the legislation must establish the legal status of the embryo before its implantation, the couples’ rights and the regulation of the embryo cryopreservation. Personal, institutional or legal decisions must assume a concept about the moral status of the human embryo and try to avoid their destruction or indefinite storage.
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    Mutations in BRCA1, BRCA2 and other breast and ovarian cancer susceptibility genes in Central and South American populations
    (BioMed Central, 2017) Jara, Lilian; Morales, Sebastian; de Mayo, Tomas; Gonzalez, Patricio; Carrasco, Valentina; Godoy, Raul
    Breast cancer (BC) is the most common malignancy among women worldwide. A major advance in the understand‑ ing of the genetic etiology of BC was the discovery of BRCA1 and BRCA2 (BRCA1/2) genes, which are considered high-penetrance BC genes. In non-carriers of BRCA1/2 mutations, disease susceptibility may be explained of a small number of mutations in BRCA1/2 and a much higher proportion of mutations in ethnicity-specifc moderate- and/or low-penetrance genes. In Central and South American populations, studied have focused on analyzing the distribu‑ tion and prevalence of BRCA1/2 mutations and other susceptibility genes that are scarce in Latin America as com‑ pared to North America, Europe, Australia, and Israel. Thus, the aim of this review is to present the current state of knowledge regarding pathogenic BRCA variants and other BC susceptibility genes. We conducted a comprehensive review of 47 studies from 12 countries in Central and South America published between 2002 and 2017 reporting the prevalence and/or spectrum of mutations and pathogenic variants in BRCA1/2 and other BC susceptibility genes. The studies on BRCA1/2 mutations screened a total of 5956 individuals, and studies on susceptibility genes analyzed a combined sample size of 11,578 individuals. To date, a total of 190 diferent BRCA1/2 pathogenic mutations in Central and South American populations have been reported in the literature. Pathogenic mutations or variants that increase BC risk have been reported in the following genes or genomic regions: ATM, BARD1, CHECK2, FGFR2, GSTM1, MAP3K1, MTHFR, PALB2, RAD51, TOX3, TP53, XRCC1, and 2q35.
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    Recomendaciones en el manejo de pacientes de medicina reproductiva en tiempos de SARS-CoV-2: Un resumen de la literatura
    (2020) Errázuriz, Joaquín; Díaz, Elisa; Sanhueza, Pablo; Gonzalez, Patricio; Donoso, Patricio
    La pandemia de SARS-CoV-2 es una emergencia sanitaria sin precedentes, que ha implicado un reordenamiento en la priorización de procedimientos médicos electivos, frente a un potencial colapso del sistema de salud a nivel mundial y riesgo de contagio del personal y pacientes. Al igual que en el resto del mundo, en Chile la mayoría de los centros de medicina reproductiva han debido suspender sus diferentes terapias de reproducción asistida (TRA). Sin embargo, a raiz de la disminución del número de contagios y mayor evidencia científica disponible, la Sociedad Europea de Reproducción Humana y Embriología (ESHRE) ha recomendado reiniciar los ciclos de medicina reproductiva de forma gradual, a través de sistemas de triage, priorizando pacientes por medio de la generación de distintos escenarios. Considerando esta recomendación, se realizó una revisión sobre la evidencia existente respecto a SARS-CoV-2 / COVID-19 en medicina reproductiva recopilando diferentes directrices de las principales sociedades internacionales, con el objetivo de generar una recomendación ajustada a la realidad nacional.

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