Browsing by Author "Carrasco, Valentina"
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Item Genetic Variants in pre-miR-146a, pre-miR-499, pre-miR-125a, pre-miR-605, and pri-miR-182 Are Associated with Breast Cancer Susceptibility in a South American Population(2018) Morales, Sebastián; De Mayo, Tomas; Gulppi, Felipe Andrés; Gonzalez-Hormazabal, Patricio; Carrasco, Valentina; Reyes, José Miguel; Gómez, Fernando; Waugh, Enrique; Jara, LilianAbstract: Breast cancer (BC) is one of themost frequent tumors affecting women worldwide. microRNAs (miRNAs) single-nucleotide polymorphisms (SNPs) likely contribute to BC susceptibility. We evaluated the association of five SNPs with BC risk in non-carriers of the BRCA1/2-mutation from a South American population. The SNPs were genotyped in 440 Chilean BRCA1/2-negative BC cases and 1048 controls. Our data do not support an association between rs2910164:G>C or rs3746444:A>G and BC risk. The rs12975333:G>T is monomorphic in the Chilean population. The pre-miR-605 rs2043556-C allele was associated with a decreased risk of BC, both in patients with a strong family history of BC and in early-onset non-familial BC (Odds ratio (OR) = 0.5 [95% confidence interval (CI) 0.4–0.9] p = 0.006 and OR = 0.6 [95% CI 0.5–0.9] p = 0.02, respectively). The rs4541843-T allele is associated with increased risk of familial BC. This is the first association study on rs4541843 and BC risk. Previously, we showed that the TOX3-rs3803662:C>T was significantly associated with increased risk of familial BC. Given that TOX3 mRNA is a target of miR-182, and that both the TOX3 rs3803662-T and pri-miR-182 rs4541843-T alleles are associated with increased BC risk, we evaluated their combined effect. Risk of familial BC increased in a dose-dependent manner with the number of risk alleles (p-trend = 0.0005), indicating an additive effect.Item 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, RaulBreast 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.Item Percepción del profesional de enfermería en relación a la entrega de cuidados espirituales a sus pacientes(Universidad del Desarrollo. Facultad de Medicina. Escuela de Enfermería, 2020-08-17) Bustos, Fernanda; Carrasco, Valentina; Garrido, Catalina; Ramírez, Javiera; Villela, Beatriz; Lizana Ovalle, MarceloIntroducción: Se busca evidenciar la relevancia del cuidado espiritual en todo proceso patológico, ya que las creencias son una necesidad del ser humano, por lo que afecta directamente la recuperación del paciente, calidad de vida y sensación de bienestar. Objetivo general: Explorar la percepción de los profesionales de enfermería acerca de la entrega de cuidados espirituales a sus pacientes. Metodología: Se incluyeron 13 artículos según criterios de inclusión y exclusión, estos se agruparon según los objetivos del estudio. Se utilizaron los términos MESH y DeSC en las bases de datos de PUBMED, SciELO y Medline. Resultados: El personal refiere un déficit en la preparación y educación con respecto a la espiritualidad y su cuidado, además estos mencionan no tener tiempo para cubrir esta necesidad. Por otro lado, se evidencia que las culturas más apegadas a la religión y/o espiritualidad tienen mejor preparación, siendo también importante los años de experiencia, vivencias, autoconocimiento y lugar de trabajo. Discusión: Existe una inconsistencia con respecto al concepto espiritualidad, el personal de enfermería logra reconocer demandas espirituales en sus pacientes pero no las atiende debido a la poca preparación y conocimiento. Los profesionales con más años de experiencia y autoconocimiento espiritual tienen una ventaja a la hora de reconocer, jerarquizar y otorgar cuidados espirituales. Conclusiones: La entrega de cuidados espirituales es fundamental para la recuperación integral del paciente y es de suma importancia la capacitación en relación a los cuidados espirituales a profesionales de salud.