Base de dados : LILACS
Pesquisa : D13.444.154 [Categoria DeCS]
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Id: biblio-910469
Autor: Abraham, J; Singh, S; Joshi, S.
Título: Liquid biopsy: emergence of a new era in personalized cancer care
Fonte: Appl. cancer res;38:1-17, jan. 30, 2018. tab, ilus.
Idioma: en.
Resumo: The most successful treatment for cancer involves identifying druggable, biological markers for targeted therapy. In the clinical setting, surgical removal of tumors is the only procedure for identifying such targetable molecules. Shed from tumor cells, these markers are also present in circulating blood, albeit in very negligible amounts. Liquid biopsy is a procedure performed on a blood sample to look for such circulating cancer markers cells or pieces of nucleic acid from the tumor. The procedure shows promise in revolutionizing personalized cancer treatments. Here we briefly review the technique, characterization, and its utilization in clinics
Descritores: Biomarcadores
Terapia de Alvo Molecular
Ácidos Nucleicos Livres
Biópsia Líquida
Células Neoplásicas Circulantes
Limites: Humanos
Tipo de Publ: Revisão
Responsável: BR30.1 - Biblioteca


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Id: biblio-1097344
Autor: Jaraba-Álvarez, Wendy V(edt); Torres-Gómez, Isaura P(com); Manrique-Hernández, Rubén D(com); Gallo-Bonilla, Juan E(com).
Título: Estado actual de las aplicaciones del ADN libre de célula circulante / Current status of circulating cell-free DNA applications
Fonte: Med. lab;23(11-12):551-564, 2017.
Idioma: es.
Resumo: el diagnóstico y tamizaje prenatal, así como el diagnóstico y seguimiento de enfermedades en diversos campos de la medicina, se hace, en la actualidad, de manera más sencilla gracias al ADN libre en plasma. Este ADN representa una pequeña parte de la información genética de un tejido en particular o, en el caso de las mujeres en embarazo, una proporción del ADN fetal. En la oncología, por ejemplo, dada la heterogeneidad del cáncer, la aplicación del ADN libre en plasma ha sido difícil de implementar ya que solo existen algunos biomarcadores tumorales específicos para su uso en investigación. Metodologías como la reacción en cadena de la polimerasa (PCR) en tiempo real muestran una gran sensibilidad para detectar mutaciones que permitan establecer un correcto dignóstico y tratamiento de algunas enfermedades como las fetales o las tumorales, al mismo tiempo que disminuye costos. Lo anterior, no deja de ser una gran oportunidad para continuar los procesos de investigación y desarrollo de pruebas que permitan, en un futuro cercano, implementar el uso del ADN libre de células en el área clínica, con resultados confiables en el diagnóstico y tratamiento de enfermedades sin poner en riesgo la integridad del paciente

The prenatal diagnosis and screening, as well as the diagnosis and monitoring of diseases in various medicine fields, is now made more easily thanks to the cell free DNA present in plasma. This DNA represents a small part of the genetic information of a particular tissue or, in the case of pregnant women, a proportion of the fetal DNA. In oncology, for example, given the heterogeneity of cancer, the application of cell free DNA has been difficult to implement since there are only some specific tumoral biomarkers for research use. Methodologies such as real-time polymerase chain reaction (PCR) show a high sensitivity to detect mutations that allow a correct diagnosis and treatment of fetal or tumoral diseases, at the same time reducing costs. This represents a great opportunity to continue the research and developmental processes of tests that allow its implementation in the clinical area in the near future, with reliable results in diagnosis and treatment of diseases without compromising the patient's integrity
Descritores: Ácidos Nucleicos Livres
-Diagnóstico Pré-Natal
Biópsia Líquida
Aneuploidia
Neoplasias
Limites: Humanos
Tipo de Publ: Revisão
Responsável: CO373.9 - EDIMECO - Editora Médica Colombiana S.A.


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Id: biblio-1097008
Autor: Díaz-Hernández, David J(edt); Torres-Gómez, Isaura P(com); Arango-Martínez, Adriana M(com); Manrique-Hernández, Rubén D(com); Gallo-Bonilla, Juan E(com).
Título: Aspectos genómicos, transcriptómicos y del diagnóstico en el síndrome de Down / Genomic, transcriptomic, and diagnostic features of Down syndrome
Fonte: Med. lab;24(1):24-37, 2020.
Idioma: es.
Resumo: El síndrome de Down es causado por la presencia de una tercera copia del cromosoma 21 y fue descrito por primera vez en 1838 por Jean-Etienne-Dominique, y más tarde por John Langdon Haydon Down en 1866, mientras trabajaba como superintendente médico en el Asilo Real de Earlswood. Desde ese momento, la comunidad científica puso grandes esfuerzos en tratar de elucidar diversos aspectos que influyen en la naturaleza de esta condición, y que determinan su incidencia y factores de riesgo. De igual manera, se ha puesto interés en los genes involucrados en esta enfermedad, la relación genotipo-fenotipo, la expresión del fenotipo, la variabilidad del material genético y las consecuencias transcripcionales que se producen al tener una tercera copia, ya sea parcial o total, del cromosoma 21. Además, se han invertido esfuerzos en identificar biomarcadores y en diseñar metodologías de diagnóstico prenatal no invasivo que sean altamente eficientes para un mejor diagnóstico del síndrome de Down, y así reducir su impacto negativo en las madres gestantes, al proveerlas de información neutral y precisa acerca de vivir con un hijo con síndrome de Down, y darles autonomía en la decisión de la continuación de su embarazo

Down syndrome is caused by the presence of a third copy of chromosome 21 and was first described by Jean-Etienne-Dominique in 1838, and later by John Langdon Haydon Down in 1866, while working as a medical superintendent in the Royal Earlswood Asylum. Since, the scientific community has placed great efforts in trying to elucidate different influencing features in the nature of this condition that determine their incidence and risk factors. In addition, especial attention has been given to the genes involved in this disease, the genotype-phenotype relationship, the expression of the phenotype, the variability of the genetic material and the transcriptional consequences that are produced by having a third copy, either partial or total, of chromosome 21. Additionally, efforts have been invested in identifying biomarkers and designing noninvasive prenatal methodologies that are highly efficient for a better diagnosis of Down syndrome, in order to reduce its negative impact in pregnant mothers, by providing them with neutral and accurate information about life with a child with Down syndrome, as well as providing the autonomy in the decision to continue their pregnancy
Descritores: Cromossomos Humanos Par 21
-Fenótipo
Síndrome de Down
Ácidos Nucleicos Livres
Tipo de Publ: Revisão
Responsável: CO373.9 - EDIMECO - Editora Médica Colombiana S.A.


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Id: biblio-951907
Autor: Oliveira, Isadora Bernardo David de; Hirata, Rosario Dominguez Crespo.
Título: Circulating cell-free DNA as a biomarker in the diagnosis and prognosis of colorectal cancer
Fonte: Braz. J. Pharm. Sci. (Online);54(1):e17368, 2018. tab, graf.
Idioma: en.
Resumo: Abstract Colorectal cancer (CRC) is a disease without evident clinical symptoms in early stages, leading to late diagnosis and disease management. Current diagnostic and prognostic tools require invasive procedures and circulating molecular biomarkers fail to have optimal sensitivity and specificity. Circulating biomarkers with high clinical performance may be valuable for early diagnosis and prognosis of CRC. The purpose of this review was to investigate the application of circulating cell-free DNA (ccfDNA) in CRC diagnosis and prognosis and the analytical methods used in blood samples in articles published between 2005 and 2016. Based on specific inclusion and exclusion criteria, 26 articles were selected. Most studies used ccfDNA quantification as the molecular biomarker. The analytical method was mainly based on the quantitative polymerase chain reaction (qPCR). Biomarkers based on aberrantly methylated genes (n=6) and ccfDNA integrity/fragmentation (n=2) were also used for the CRC diagnosis. The CRC prognosis used the detection of oncogene mutations, such as KRAS and BRAF, in ccfDNA. Significant differences were found in variables among the studies revealing potential bias. ccfDNA quantification as a diagnostic biomarker for CRC has promising results but it lacks clinical specificity since other diseases present a similar increase in ccfDNA content. However, increasing research in the epigenomic field can lead the way to a clinically specific biomarker for the CRC early diagnosis. As for the analytical method, qPCR and derivatives seem to be a perfectly valid technique. The use of ccfDNA quantification in CRC prognosis seems promising. The attempt to use the ccfDNA quantification in clinical practice may reside in the prognosis using a qPCR technique.
Descritores: Prognóstico
Neoplasias Colorretais/diagnóstico
Ácidos Nucleicos Livres/efeitos adversos
-Biomarcadores
Diagnóstico Precoce
Células Neoplásicas Circulantes
Tipo de Publ: Revisão
Responsável: BR40.1 - DBD - Divisão de Biblioteca e Documentacão do Conjunto das Químicas


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Id: lil-737130
Autor: Musci, Thomas J.
Título: Cell-free DNA: a new era in aneuploidy testing
Fonte: Femina;42(4):161-164, jul-ago. 2014.
Idioma: pt.
Descritores: Análise Citogenética/métodos
Ácidos Nucleicos Livres/análise
Aneuploidia
-Cuidado Pré-Natal
Fatores de Risco
Síndrome de Down/embriologia
Testes para Triagem do Soro Materno/métodos
Limites: Feminino
Gravidez
Tipo de Publ: Editorial
Responsável: BR1365.1 - Biblioteca Biomédica A - CB/A


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Id: lil-749122
Autor: Fonseca, Eduardo Borges da; Cruz, Jader; Sá, Renato de Augusto; Di Renzo, Gian Carlo; Nicolaides, Kypros.
Título: Rastreamento de aneuploidias no primeiro trimestre de gestação: evolução da idade materna à avaliação do DNA fetal livre no sangue materno / Screening for aneuploidies in the first trimester of pregnancy: evolution from maternal age to cell-free DNA testing in maternal blood
Fonte: Femina;42(2):87-93, mar-abr. 2014. tab, ilus.
Idioma: pt.
Resumo: O rastreamento fetal de aneuploidia apresentou uma evolução fantástica a partir da avaliação individual da idade materna até os dias atuais, na qual evidências sugerem que o teste de avaliação do DNA fetal livre no sangue materno detecta mais de 99% dos casos de trissomia do cromossomo 21 e, aproximadamente, 98% dos casos de trissomia do 18 e 92%, do 13, com taxas de falso-positivo de 0,1; 0,1 e 0,3%, respectivamente. Recentemente, o grupo de trabalho em boas práticas médicas da Federação Internacional de Ginecologia e Obstetrícia recomendou que todas as gestantes, independentemente da idade, deveriam realizar uma avaliação de risco para aneuploidias por meio da translucência nucal, do teste combinado ou do teste de DNA fetal livre no sangue materno. O teste invasivo para diagnóstico de aneuploidia não deveria ser realizado considerando apenas a idade materna como fator de risco. O objetivo desta revisão foi apresentar esta nova ferramenta de rastreio, presente em muitos centros, e descrever as estratégias para implementação de tal tecnologia na prática clínica diária.(AU)

Screening for fetal aneuploidy has a tremendous evolution from maternal age to now where recent evidence suggests that cell-free DNA testing in maternal blood can detect more than 99% of cases of trisomy 21, about 98% of trisomy 18, and 92% of trisomy 13, with respective false-positive rates of 0.1, 0.1, and 0.3%. Recently, the working group on the best practice on maternal fetal medicine of the International Federation of Gynecology and Obstetrics has recommended as a good medical practice that pregnant women, regardless of maternal age, be offered prenatal assessment for aneuploidy through nuchal translucency, combined test, or cell-free DNA testing. The invasive procedure for diagnosis of aneuploidy should be avoided taking into account only the maternal age as a risk factor nowadays. The purpose of this review was to present this new screening tool available in most centers and to describe the strategies for implementation of this technology on the daily clinical practice.(AU)
Descritores: Primeiro Trimestre da Gravidez
Testes para Triagem do Soro Materno/métodos
Ácidos Nucleicos Livres/química
Aneuploidia
-Cuidado Pré-Natal/métodos
Fatores de Risco
Limites: Humanos
Feminino
Gravidez
Responsável: BR1.1 - BIREME



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