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1.
Oncología (Ecuador) ; 32(1): 1-14, 30-04-2022.
Article in Spanish | LILACS | ID: biblio-1368924

ABSTRACT

Introducción: El cáncer de mama es la principal neoplasia en mujeres y se ha reportado un aumento de la incidencia en jóvenes menores a 40 años. El objetivo del presente estudio fue describir las características clínicas y patológicas, de pacientes con cáncer de mama invasor, ≤40 años, atendidas en un centro de referencia oncológico en Medellín-Colombia. Metodología: Se realizó un estudio transversal, realizado en la Clínica Vida (Fundación Colombiana de Cancerología), en el período enero del 2015 a diciembre del 2019. La muestra fue no probabilística, de pacientes con diagnóstico oncológico de cáncer de mama invasor. Se registró edad, tipo de cáncer, antecedentes familiares, recidivas y mortalidad. Se utiliza estadística descriptiva. Resultados: De 2332 casos de nuevos de cáncer de mama invasor, 261 se identificaron en mujeres ≤ 40 años, 11.19 % (IC 95 % 11.17-11.22 %), edad de 34.2 ± 4 años. 16.5 % en menores de 30 años, 40.2 % en edad de 30 a 45 años y 42.2 % en mujeres de 35 a 40 años. La presentación principal fue masa palpable auto detectada. El subtipo molecular Luminal A 16 %, Luminal B 48.3 %, Her2 enriquecido 11.2 % y Triple negativo 21.6 %. El 27 % tuvo algún antecedente familiar. La recidiva fue del 14 % y la mortalidad del 14.9 %. Conclusión: El 11 % de pacientes con cáncer de mama en esta serie corresponde a mujeres jóvenes, con una presentación en estadios más avanzados y biología molecular desfavorable, lo cual requirió un manejo más agresivo y radical. Esto resalta la importancia del diagnóstico oportuno en pacientes de lesiones mamarias en mujeres jóvenes.


Introduction: Breast cancer is the main neoplasm in women, and an increased incidence has been reported in young people under 40 years of age. The objective of the present study was to describe the clinical and pathological characteristics of patients with invasive breast cancer, ≤40 years old, treated at a reference oncology center in Medellín-Colombia. Methodology: A cross-sectional study was carried out by the Vida Clinic (Colombian Cancer Foun-dation) from January 2015 to December 2019. The sample was nonprobabilistic of patients with an oncological diagnosis of invasive breast cancer. Age, type of cancer, family history, recurrence, and mortality were recorded. Descriptive statistics are used. Results: Of 2332 cases of new invasive breast cancer, 261 were identified in women ≤ 40 years, 11.19% (95% CI 11.17-11.22%), age 34.2±4 years. 16.5% in those under 30 years of age, 40.2% in women between 30 and 45 years of age, and 42.2% in women between 35 and 40 years of age. The main presentation was a self-detected palpable mass. The molecular subtypes luminal A 16%, luminal B 48.3%, Her2 enriched 11.2%, and triple-negative 21.6%. A total of 27% had a family history. Recurrence was 14%, and mortality was 14.9%. Conclusion: Eleven percent of patients with breast cancer in this series were young women, with a presentation in more advanced stages and unfavorable molecular biology, which requires more aggressive and radical management. This highlights the importance of timely diagnosis in young women with breast injuries.


Subject(s)
Humans , Female , Breast Neoplasms , Adult , Neoadjuvant Therapy , Molecular Biology
2.
Rev. bras. anal. clin ; 53(3): 232-238, 20210930. ilus
Article in Portuguese | LILACS | ID: biblio-1368042

ABSTRACT

O câncer do colo do útero é o quarto tumor mais comum entre mulheres no mundo e o terceiro no Brasil. A detecção precoce e a identificação das lesões cervicais são essenciais no rastreamento do câncer cervical. Nos últimos anos, vários marcadores têm sido apresentados como possíveis candidatos para a triagem eficiente de exames citológicos com anormalidades das células epiteliais. O objetivo deste trabalho é analisar a correlação com a expressão imuno-histoquimica dos biomarcadores p16 e Ki-67 com lesão intraepitelial cervical de alto grau na detecção molecular DNA/HPV de alto risco. A metodologia de pesquisa empregada é uma revisão sistemática, realizada por meio de buscas nas bases de dados eletrônica Literatura Latino-Americana em Ciência e Saúde (LILACS), Scientific Electronic Library Online (SCIELO), National Library of Medicine (MEDLINE) de artigos publicados no período de 2005 a 2019 nos idiomas português, inglês e espanhol. Concluiu-se que o uso das proteínas p16 e Ki67 auxilia na identificação das mudanças que acontecem durante a progressão da lesão cervical, aprimorando os métodos de rastreio atuais. O gene p53, a pRb e ciclinas também têm um papel crítico na carcinogênese e, desta maneira, também têm sido indicados para entrar nos painéis de estudo.


Introduction: Acute myeloid leukemia (AML) is a genetically heterogeneous malignant clonal disorder of the hematopoietic system, characterized by the uncontrolled proliferation of abnormal and immature blast cells and impaired production of normal blood cells. Objective: to present the advances in diagnosis in Acute Myeloid Leukemia through the techniques of molecular biology. Methodology: The research was carried out in the electronic databases for scientific articles of the search portal PubMed, NCBI, BVSMS, also SciELO. Results: Molecular techniques, including real-time quantitative PCR (RT-qPCR), digital PCR and technologies based on new generation sequencing, can be standardized and used to detect AML-associated gene changes. Conclusion: The advance in molecular diagnosis can be promising in the ideal and personalized treatment.


Subject(s)
Leukemia, Myeloid, Acute/diagnosis , Molecular Biology , Prognosis , Technology , Blood Cells , Systematic Reviews as Topic
3.
Article in Spanish | LILACS, CUMED | ID: biblio-1341396

ABSTRACT

Introducción: La leucemia promielocítica es un subtipo de leucemia mieloide aguda que se presenta frecuentemente con una coagulopatía potencialmente mortal, por lo que representa una emergencia médica. En la gran mayoría de los pacientes ocurre la t(15;17)(q24;q21) que genera el gen aberrante PML-RARA. Mediante diferentes técnicas de citogenética y de la biología molecular que detectan dichas aberraciones es posible diagnosticar la entidad de manera inequívoca y estudiar la enfermedad mínima residual. Objetivo: Describir, comparar y analizar las técnicas de citogenética y de la biología molecular que son útiles para el diagnóstico y el seguimiento del paciente con leucemia promielocítica. Así como señalar sus ventajas y limitaciones. Métodos: Se realizó revisión de la bibliografía científica de los últimos cinco años relacionada con el tema a través de PUBMED. Se realizó análisis y resumen de la información. Análisis y síntesis de la información: Se describen dos técnicas de citogenética y tres moleculares basadas en la aplicación de la reacción en cadena de la polimerasa. Se comparan y analizan sus ventajas y limitaciones. Conclusiones: Algunas de estas técnicas son útiles únicamente para el diagnóstico, mientras que otras, por su alta sensibilidad, se recomiendan para el seguimiento del paciente con leucemia promielocítica(AU)


Introduction: Promyelocytic leukemia (PML) is a subtype of acute myeloid leukemia that frequently presents with a potentially fatal coagulopathy, therefore it represents a medical emergency. In the vast majority of patients, the t (15; 17) (q24; q21) occurs, which generates the aberrant gene PML-RARA. Using different cytogenetic and molecular biology techniques that detect these aberrations, it is possible to unequivocally diagnose the entity and study minimal residual disease. Objective: To describe, compare and analyze cytogenetics and molecular biology techniques that are useful for diagnosis and follow-up of the patient with Promyelocytic leukemia. As well as pointing out its advantages and limitations. Methods: A review of the scientific bibliography of the last five years related to the subject was carried out through PUBMED. An analysis and summary of the information was made. Analysis and synthesis of the information: Two cytogenetic and three molecular techniques are described based on the application of the polymerase chain reaction. Its advantages and limitations are compared and analyzed. Conclusions: Some of these techniques are only useful for diagnosis, while others, due to their high sensitivity, are recommended for monitoring the patient with Promyelocytic leukemia(AU)


Subject(s)
Humans , Leukemia, Promyelocytic, Acute/diagnosis , Polymerase Chain Reaction/methods , Aftercare , Cytogenetics/methods , Molecular Biology
4.
Rev. cuba. med. trop ; 73(2): e503, 2021. tab, graf
Article in Spanish | LILACS, CUMED | ID: biblio-1347482

ABSTRACT

Introdución: Las ß-lactamasas AmpC son enzimas con capacidad hidrolítica, pueden ser de tipo constitutivo o inducible. No existe un método estandarizado para su determinación fenotípica por normas internacionales; la detección de estas mediante el uso de la biología molecular podría ser una alternativa útil para vigilancia y control de la diseminación de clones circulantes en el entorno hospitalario. Objetivo: Determinar el fenotipo de resistencia y genes expresados en la producción de ß-lactamasas AmpC en bacilos gramnegativos de aislados clínicos en un centro hospitalario. Métodos: Estudio observacional, descriptivo y de corte transversal. Se seleccionaron 78 cepas bacterianas como portadoras de ß- lactamasas AmpC. Se les realizó prueba de aproximación de disco; a las cepas con resultado positivo se seleccionaron para extracción de ADN y PCR multiplex para detección de 6 familias genes AmpC. Se determinó la frecuencia por tipo de muestra, servicio y comparación con el perfil de susceptibilidad. Resultados: De las cepas seleccionadas con fenotipo AmpC, el 57,6 por ciento (45/78) se consideró caso confirmado ß-lactamasas AmpC por su positividad para la prueba confirmatoria. La técnica molecular utilizada confirmó en el 40 por ciento (18/45) la presencia de genes AmpC. Se obtuvo con mayor frecuencia el gen MIR n= 9 (20 por ciento), seguido de DHA n= 7 (15 por ciento). Conclusiones: La detección oportuna de genes que codifican para ß-lactamasas AmpC permite establecer estrategias para evitar la circulación mediada por plásmidos en hospitales, así como utilizar mejores opciones terapéuticas que no induzcan a otros mecanismos de resistencia(AU)


Introduction: AmpC ß--lactamases are enzymes with hydrolytic activity. They may be either constitutive or inducible. No standardized method is available for their phenotypical determination by international standards. Their detection by molecular biology could be a useful alternative for the surveillance and control of the spread of clones circulating in hospital environments. Objective: Determine the resistance phenotype and genes expressed in the production of AmpC ß-lactamases in Gram-negative bacilli from clinical isolates in a hospital. Methods: An observational descriptive cross-sectional study was conducted. A total 78 bacterial strains were selected as carriers of AmpC ß-lactamases. Disc approximation tests were performed. The strains testing positive were selected for DNA extraction and multiplex PCR for detection of six AmpC gene families. Determination was made of the frequency per sample type, service and comparison with the susceptibility profile. Results: Of the strains selected with AmpC phenotype, 57.6 percent (45/78) were considered to be AmpC β-lactamase confirmed cases, due to their positive confirmatory test. The molecular technique used confirmed the presence of AmpC genes in 40 percent (18/45) of the cases. The gene most commonly obtained was MIR n= 9 (20 percent), followed by DHA n= 7 (15 percent). Conclusions: Timely detection of genes encoding for AmpC ß-lactamases makes it possible to set up strategies to prevent plasmid-mediated circulation in hospitals, as well as apply better therapeutic options that do not induce other resistance mechanisms(AU)


Subject(s)
Humans , Male , Female , Drug Resistance, Microbial/drug effects , beta-Lactam Resistance/drug effects , Multiplex Polymerase Chain Reaction , Molecular Biology , Epidemiology, Descriptive , Cross-Sectional Studies , Genes/physiology
5.
Rev. cuba. inform. méd ; 13(1): e456, ene.-jun. 2021.
Article in Spanish | LILACS, CUMED | ID: biblio-1251723

ABSTRACT

Cuando Gregor Mendel descubrió las leyes de la herencia, la primera acogida fue la incomprensión. Más de treinta años después, la reacción fue dividida: algunos comenzaron a aplicar su enfoque hasta lograr gigantescos avances en los estudios genéticos durante toda la primera mitad del siglo XX, otros proclamaron a la genética como una pseudociencia. La cabeza visible de esta segunda tendencia fue el ingeniero agrónomo soviético Trofim Denísovich Lysenko (1898-1976), quien afirmaba que los seres vivos podían ser modificados únicamente por el ambiente, sin tener en cuenta su herencia genética. El gran perdedor de aquella polémica fue Lysenko, y con él, la ciencia soviética, y todo lo que ello pudo implicar para el desarrollo de la medicina y la agricultura de aquel gran país. A partir de 1952 los avances de la genética y la biología molecular han marchado a pasos agigantados, y nuestro país no se ha quedado atrás: las vacunas cubanas son resultado de la aplicación de la biotecnología al combate contra el horrendo flagelo de la Covid-19. Crucial en ese avance fue el éxito del proyecto del genoma humano, cuando se lograron descifrar 3200 millones de pares de bases de ADN que contienen unos 20,500 genes. Con la culminación del proyecto del genoma humano en 2003, y en concordancia con las ideas prevalecientes entre los biólogos de aquel momento, se anticipaba que los novedosos métodos genómicos permitirían encontrar las causas y sugerir el tratamiento para las enfermedades crónicas responsables de la mayor parte de la mortalidad entre los seres humanos. Como resultado, se impulsaron estudios de asociación a escala genómica (genome-wide association studies, GWAS). Sin embargo, los resultados de tales estudios fueron bastante modestos. Así, en gemelos se encontró que las bases genéticas comunes podían explicar solamente el 8 por ciento...(AU)


Subject(s)
Humans , Tooth, Deciduous , Exposome , Genetics , Molecular Biology
6.
Infectio ; 25(2): 135-137, abr.-jun. 2021. graf
Article in Spanish | LILACS, COLNAL | ID: biblio-1250080

ABSTRACT

Resumen Se presenta el caso de un paciente a quien se le diagnosticó una Infección de Transmisión Sexual (ITS) por la técnica de PCR múltiple y en quién se logró por esta técnica, detectar cuatro agentes diferentes simultáneamente: Neisseria gonorreae, Mycoplasma hominis, Ureaplasma urealyticum/parvum y Trichomonas vaginalis, situación esta, que no hubiera sido posible utilizando el procedimiento estándar.


Summary Here we report the case of a patient with a Sexually Transmitted Disease (STI) in whom four different agents were detected by a multiple PCR technique: Neisseria gonorreae, Mycoplasma hominis, Ureaplasma urealyticum / parvum and Trichomonas vaginalis. This detection of multiple agents would not have been possible using conventional procedures.


Subject(s)
Humans , Male , Adult , Sexually Transmitted Diseases , Diagnosis , Molecular Biology , Trichomonas vaginalis , Polymerase Chain Reaction , Ureaplasma urealyticum , Mycoplasma hominis , Methods
7.
Rev. cuba. pediatr ; 93(2): e1255, fig
Article in Spanish | LILACS, CUMED | ID: biblio-1280373

ABSTRACT

Introducción: Las adenopatías, linfadenopatías o linfoadenomegalias constituyen causas frecuentes de consulta pediátrica. Estas entidades nosológicas pueden variar desde infecciones benignas transitorias hasta procesos malignos como linfoma, metástasis de tumores y otros. Objetivo: Describir un caso clínico con un síndrome adénico que por las características semiológicas sugería un proceso oncoproliferativo y los resultados de los estudios complementarios confirmaron un proceso infeccioso causado por Toxoplasma gondii. Presentación de caso: Adolescente femenina de 11 años de edad, eutrófica, con antecedentes personales de salud. Ingresó en el Hospital Pediátrico Universitario "William Soler " por presentar aumento de volumen en la región cérvico-lateral derecha. Al examen físico se palpó una adenopatía de aproximadamente 2 x 3 cm de diámetro, dura, inmóvil, no dolorosa, sin signos de inflamación, no adherida a planos profundos; evolutivamente, apareció otra adenopatía en posición cervical derecha baja, de iguales características. Se indicó hemograma, velocidad de sedimentación globular, proteína C reactiva, transaminasas, glicemia, proteínas totales, albúmina, triglicéridos, colesterol, marcadores tumorales, ecografía, rayos X de tórax, serología para detectar anticuerpos anti citomegalovirus, virus de inmunodeficiencia humana y Toxoplasma gondii. Se realizó, además, biopsia para estudio por anatomía patológica y biología molecular. Se concluyó el caso como un síndrome adénico de etiología toxoplásmica. Conclusiones: En pacientes adolescentes con adenopatías cervicales, independientemente de tamaño, tiempo de evolución y consistencia, se debe realizar diagnóstico diferencial por infección por Toxoplasma gondii, teniendo en cuenta que las adenopatías causadas por este parásito pueden tener algunas características similares a las ocasionadas por procesos oncoproliferativos que pueden presentarse a esta edad(AU)


Introduction: Adenopathies, lymphadenopathies or lymphadenomegalies are common causes of pediatric consultation. These nosological entities can range from transient benign infections to malignant processes such as lymphoma, tumor metastases, and others. Objective: Describe a clinical case with an adenic syndrome that from the semiological characteristics suggested an onco-proliferative process and the results of the complementary studies confirmed an infectious process caused by Toxoplasma gondii. Case presentation: 11-year-old female adolescent, eutrophic, with a personal health history. She was admitted at "William Soler" University Pediatric Hospital after presenting volume increase in the right lateral cervical region. An adenopathy of approximately 2 x 3 cm in diameter, hard, motionless, non-painful, with no signs of inflammation, not attached to deep planes was found at the physical examination; in the evolution, another adenopathy appeared in a lower right cervical position, with equal characteristics. Blood counts, globular sedimentation rate, C-reactive protein, transaminases, glycemia, total proteins, albumin, triglycerides, cholesterol, tumor markers, ultrasound, chest x-rays, serology for anti-cytomegalovirus antibodies, human immunodeficiency virus and Toxoplasma gondii tests were indicated. Biopsy was also performed for study by pathological anatomy and molecular biology. The case was concluded as an adenic toxoplasmic syndrome. Conclusions: In adolescent patients with cervical adenopathies, regardless of size, evolution time and consistency, differential diagnosis for Toxoplasma gondii infection should be made, taking into account that adenopathies caused by this parasite may have some characteristics similar to those caused by onco-proliferative processes that may occur at this age(AU)


Subject(s)
Humans , Child , Biopsy , Biomarkers, Tumor , Cytomegalovirus , Molecular Biology
8.
Rev. ADM ; 78(2): 90-94, mar.-abr. 2021.
Article in Spanish | LILACS | ID: biblio-1247690

ABSTRACT

La biología molecular tiene mayor afinidad en las áreas de la salud, en odontología su principal aplicación ha sido en la identificación de microorganismos orales patógenos mediante el uso de secuencias genéticas específicas (ácido desoxirribonucleico [DNA], ácido ribonucleico [RNA] y proteínas). Las pruebas a nivel molecular se caracterizan por su rapidez, reproductibilidad, sensibilidad y especificidad de los microorganismos diana. El presente artículo de revisión bibliográfica servirá como herramienta para comprender los principios de las técnicas más destacadas como son: PCR estándar y RT-PCR en tiempo real, PCR con transcriptasa inversa, microarreglos y ensayo por inmunoabsorción ligado a enzimas (ELISA), además de sus ventajas y desventajas respecto a las pruebas convencionales (AU)


Molecular biology has a greater affinity in the areas of health. In dentistry, its main application has been the identification of pathogenic oral microorganisms, through the use of specific genetic sequences (deoxyribonucleic acid [DNA], ribonucleic acid [RNA] and proteins). Molecular tests are characterized by their rapidity, reproducibility, sensitivity and specificity of target microorganisms. This literature review article will serve as a tool to understand the principles of the most prominent techniques such as: Standard PCR, Real-time RT-PCR, Reverse transcriptase PCR, microarrays and Enzyme-linked immunosorbent assay (ELISA), in addition to their advantages and disadvantages with respect to conventional tests (AU)


Subject(s)
Humans , Sensitivity and Specificity , Diagnosis, Oral/methods , Molecular Biology , Mouth Diseases/diagnosis , Enzyme-Linked Immunosorbent Assay , Polymerase Chain Reaction , RNA-Directed DNA Polymerase , Reverse Transcriptase Polymerase Chain Reaction , Databases, Genetic
9.
Rev. cuba. pediatr ; 93(1): e1384, ene.-mar. 2021. tab
Article in Spanish | LILACS, CUMED | ID: biblio-1251753

ABSTRACT

Introducción: Los probíóticos de próxima generación son novedosa bioterapia activa surgida en el último decenio basados en bacterias comensales desconocidas, aisladas por métodos de biología molecular y que representan nuevo desafío para ser usadas en afecciones específicas relacionadas con severas alteraciones de disbiosis en la microbiota intestinal. Objetivo: Analizar las características de los candidatos a probióticos de próxima generación por sus mecanismos de acción y valor de su aplicación para el tratamiento de afecciones metabólicas y sistémicas específicas. Métodos: Se revisaron publicaciones en español e inglés en PubMed, Scimago, ScIELO, desde enero 2010 a julio 2020, se usaron los términos: probiótico de próxima generación, probióticos, microbiota intestinal, disbiosis. Resultados: Se actualizaron criterios sobre probióticos de próxima generación, concepto, mecanismos de acción, especificidades, resultados de investigaciones en ratones y limitados estudios en humanos en enfermedades específicas sistémicas y síndromes metabólicos, como obesidad, diabetes mellitus tipo 2, enfermedades inflamatorias intestinales y cáncer. Se revisaron antecedentes históricos, indicaciones como bioterapéuticos en enfermedades intestinales y rasgos diferenciales de probióticos de próxima generación con probióticos tradicionales. Consideraciones finales: Los conocimientos surgidos en el último decenio en estudios con bacterias comensales intestinales, no aisladas previamente, surgen como probióticos de próxima generación para bioterapia activa en el tratamiento de elección en alteraciones de disbiosis severa de la microbiota intestinal, asociadas a enfermedades específicas sistémicas que cursan con síndrome metabólico. Las evidencias experimentales abren promisorio camino para influir en mejoría o resolución de dichas afecciones(AU)


Introduction: Next-generation probiotics are novel active biotherapy that has emerged over the past decade based on unknown commensal bacteria, isolated by molecular biology methods and representing a new challenge to be used in specific conditions related to severe alterations of dysbiosis in the gut microbiota. Objective: Analyze the characteristics of next generation probiotic candidates due to their mechanisms of action and the value of their application for the treatment of specific metabolic and systemic conditions. Methods: Publications from January 2010 to July 2020 in Spanish and English were reviewed on PubMed, Scimago, ScIELO, and were used the terms: next generation probiotics, probiotics, gut microbiota, dysbiosis. Results: There were updated criteria on next-generation probiotics, concept, mechanisms of action, specificities, results of research in mice and limited human studies in specific systemic diseases and metabolic syndromes, such as obesity, type 2 diabetes mellitus, inflammatory bowel diseases and cancer. Historical background, indications such as biotherapeutics in bowel diseases and next-generation probiotic differential traits with traditional probiotics were reviewed. Final Considerations: Knowledge gained over the past decade in studies with non-previously isolated intestinal commensal bacteria emerges as next-generation probiotics for active biotherapy as the treatment of choice in severe intestinal microbiota dysbiosis alterations, associated with specific systemic diseases that lead to metabolic syndrome. Experimental evidence opens up promising path to influence improvement or resolution of such conditions(AU)


Subject(s)
Humans , Inflammatory Bowel Diseases , Intestinal Diseases , Molecular Biology , Probiotics , Obesity
10.
São Paulo; s.n; 2021. 32 p. ilus.
Thesis in Portuguese | ColecionaSUS, LILACS, ColecionaSUS, SES-SP, SESSP-SUCENPROD, SES-SP, SESSP-ESPECIALIZACAOSESPROD, SES-SP | ID: biblio-1178996

ABSTRACT

A malária é considerada uma doença infecciosa não contagiosa e de transmissão vetorial, apenas cinco espécies causam malária no ser humano: Plasmodium vivax, Plasmodium falciparum, Plasmodium malariae, Plasmodium ovale e Plasmodium knowlesi, sendo o vetor mosquito do gênero Anopheles. Na região da Mata Atlântica o principal vetor é o Anopheles do subgênero Kerteszia, em especial Anopheles (Kerteszia) cruzii e Anopheles (Kerteszia) bellator, que são os principais vetores da malária humana e símia na Mata Atlântica. Objetivo: Realizar uma revisão bibliográfica e atualização sobre a detecção por plasmódios em anofelinos na Mata Atlântica e conhecer técnicas de Biologia Molecular aplicadas ao tema. Métodos: Para a realização da revisão bibliográfica, foram realizadas buscas nas seguintes bases de dados: Scielo, PubMed, Ministério da Saúde, BVS, entre outros, com as seguintes palavras chaves Malaria, Anopheles, Plasmodium, Mata Atlântica, vetor. Nas práticas laboratoriais foram realizadas: Extração de DNA de anofelinos (kit Quiagen), técnica de PCR em tempo real (TaqMan 18S rRNA) e PCR convencional (Cyt b) para detecção de plasmódios. Resultados: Foram analisados 45 artigos sobre o tema e no treinamento das técnicas foram realizadas extrações de DNA de 60 pools de fêmeas de anofelinos da região de Parelheiros (pesquisa coordenada pela Dra. Ana Maria R. de C. Duarte, FAPESP 2014/10.919-4) e realizadas as reações de PCR para a detecção de plasmódio. Discussão: Foi observado que na região de Mata Atlântica as taxas de infecção dos anofelinos variam nos diferentes estudos, sendo em alguns locais é maior do que em outros, contudo mais estudos deverão ser feitos para uma melhor compreensão da dinâmica de transmissão nos vetores no bioma Mata Atlântica. O principal vetor o An. cruzii, mas foi foram encontrados vetores secundários positivos para P. vivax e P. malariae, como An. strodei, e An. triannulatus, sugerindo que em áreas de borda de floresta, com maior atividade antrópica, esses vetores potencialmente tenham um papel na transmissão, inclusive considerando a circulação de outras espécies de plasmódio, como de P. falciparum. Conclusão: Os estudos analisados apontaram que a taxa de infeção de mosquitos é variável nos anofelinos na Mata Atlântica de acordo com a localização geográfica e existem muitas (AU)


Subject(s)
Polymerase Chain Reaction , Communicable Diseases , Molecular Biology
11.
Neotrop. ichthyol ; 19(2): e200109, 2021. tab, graf
Article in English | LILACS, VETINDEX | ID: biblio-1279484

ABSTRACT

The fishes of the Haemulidae family are currently allocated to 19 genera with a worldwide distribution in the tropical and subtropical waters of the world's oceans. Brachygenys and Haemulon are important genera of reef fish in Brazil, as they occur in large shoals, which are both ecologically and commercially valuable. This study identified the Brazilian species of the genera Brachygenys and Haemulon using DNA barcodes. While we found only a single lineage in Brachygenys chrysargyrea, Haemulon melanurum, H. parra, and H. squamipinna, more than one molecular operational taxonomic unit (MOTU) was identified in H. atlanticus, H. aurolineatum, and H. plumieri, indicating the possible existence of discrete populations or cryptic species.(AU)


Os peixes da família Haemulidae estão atualmente distribuídos em 19 gêneros, com distribuição mundial em águas oceânicas tropicais e subtropicais. Brachygenys e Haemulon são importantes gêneros de peixes recifais do Brasil, visto que ocorrem em grandes cardumes, de valores ecológicos e comerciais. Este estudo identificou as espécies brasileiras dos gêneros Brachygenys e Haemulon usando o código de barras de DNA. Embora apenas uma única linhagem de Brachygenys chrysargyrea, Haemulon melanurum, H. parra e H. squamipinna tenha sido encontrada em nosso conjunto de dados, mais de uma unidade taxonômica operacional molecular (MOTU) foi identificada em H. atlanticus, H. aurolineatum e H. plumieri, indicando a possível existência de populações discretas ou espécies crípticas.(AU)


Subject(s)
Animals , Perciformes , Products Distribution , Molecular Biology , Sequence Analysis, DNA , Fishes
12.
Pesqui. vet. bras ; 41: e06485, 2021.
Article in English | LILACS, VETINDEX | ID: biblio-1340350

ABSTRACT

The increasing expansion of visceral leishmaniasis (VL) in the Brazilian territory evidences the need for studies focused on the main reservoir of this parasite: the dog. This study aimed to conduct an epidemiological survey in the municipality of Barão de Melgaço, Pantanal region of the state of Mato Grosso (MT), Brazil. Conventional polymerase chain reaction (PCR) and qualitative SYBR®Green real-time PCR (qPCR) were used to diagnose canine VL (CVL) and characterize the factors associated with this infection. Of the 402 dogs that had blood samples collected, 31 presented the parasite DNA, representing a prevalence of 7.71% in the population studied. Positivity indices for PCR and qPCR were 3.48 (14/402) and 7.21% (29/402), respectively. Comparison of the results obtained by both techniques showed moderate agreement (Kappa = 0.5364). Of the independent variables analyzed, presence of clinical signs (p≤0.05) was the only one associated with CVL. Based on this study, we conclude that VL is a circulating disease, with relatively low prevalence, in dogs of Barão de Melgaço/MT, and that the presence of clinical signs is the only variable associated with canine infection.(AU)


A crescente expansão da leishmaniose visceral (LV) no território brasileiro evidencia a necessidade de estudos voltados ao principal reservatório doméstico do parasito: o cão. Sendo assim, o objetivo deste estudo foi realizar um inquérito epidemiológico no município de Barão de Melgaço, região do Pantanal Mato-grossense, utilizando as técnicas de reação em cadeia pela polimerase convencional (PCR) e teste qualitativo SYBR®Green real-time PCR (qPCR) para o diagnóstico da LV canina (LVC), além de caracterizar os fatores associados a infecção. Do total de 402 cães que tiveram amostras sanguíneas coletadas, 31 apresentaram o DNA do parasito, perfazendo uma prevalência de 7,71% na população estudada. Os índices de positividade para a PCR e qPCR foram de 3,48% (14/402) e 7,21% (29/402), respectivamente. A comparação dos resultados obtidos por ambas técnicas apresentou moderada concordância (Kappa = 0,5364). Das variáveis independentes analisadas, a presença de sinais clínicos (p≤0,05) foi a única associada a ocorrência de LVC. Com base neste estudo, concluímos que a LV está circulando, com prevalência relativamente baixa, em cães de Barão de Melgaço/MT, sendo a presença de sinais clínicos a única variável associada à infecção canina.(AU)


Subject(s)
Animals , Dogs , Zoonoses/microbiology , Dogs/microbiology , Leishmaniasis, Visceral/microbiology , Molecular Biology/methods , Polymerase Chain Reaction , Public Health
13.
Pesqui. vet. bras ; 41: e06903, 2021. ilus
Article in English | LILACS, VETINDEX | ID: biblio-1346695

ABSTRACT

Goose parvovirus (GPV), also called Derzsy's disease, is a viral pathogen that causes high morbidity and mortality in goslings and ducklings. In this study, we perform the molecular characterization of the GPV in Turkey. The definition of similarity to the world of GPV isolates in Turkey and construction of a phylogenetic tree was aimed. For this purpose, the presence of GPV in the liver, spleen, and intestine tissues of nine goslings with symptoms such as dysphagia, bilateral ocular swelling, eye discharge, diarrhea, and fatigue were investigated by real-time PCR method and all samples were detected as positive. According to the data obtained by molecular characterization, phylogenetic analysis of GPV has been presented in Turkey. As a result of this study, it was determined that the GPVs available in Turkey are virulent strains.(AU)


O parvovírus do ganso (GPV), também chamado de doença de Derzsy, é um patógeno viral que causa alta morbidade e mortalidade em gansos e patinhos. Neste estudo, objetivou-se a determinação da caracterização molecular do GPV na Turquia, a definição da similaridade com o mundo dos isolados de GPV na Turquia e a construção de uma árvore filogenética. Para tanto, a presença de GPV no fígado, baço e tecidos do intestino de nove gansos com sintomas como disfagia, edema ocular bilateral, secreção ocular, diarreia e fadiga foram investigados pelo método de PCR em tempo real e todas as amostras foram detectadas tão positivo. À luz dos dados obtidos por caracterização molecular, a análise filogenética do GPV foi apresentada na Turquia. Como resultado deste estudo, foi determinado que os GPVs disponíveis na Turquia são cepas virulentas.(AU)


Subject(s)
Animals , Phylogeny , Spleen , Parvovirus , Geese , Liver , Real-Time Polymerase Chain Reaction , Molecular Biology
14.
Article in Chinese | WPRIM | ID: wpr-922032

ABSTRACT

OBJECTIVE@#To analyze the clinical features and molecular genetic etiology of a patient with 3-M (Miller McKusick Malvaux) syndrome from a consanguineous parentage family, and to explore the relationship between genotype and phenotype.@*METHODS@#After the consent of the proband's guardian and the informed consent form was signed, DNA was extracted from peripheral blood samples of the proband and her parents for chromosome microarray analysis, medical exome sequencing and parental verification.@*RESULTS@#A total of 247.1 Mb loss of heterozygosity was found in the proband with a CytoScan 750K array. Furthermore, a homozygous variant (c.458dupG) of the OBSL1 gene was found using high-throughput sequencing, which was inherited from her parents. Based on the criteria and guidelines of genetic variation of American College of Medical Genetics and Genomics, the variant is predicted to be pathogenic (PVS1+PM2+PP4), and only one case was reported previously.@*CONCLUSION@#Spina bifida occulta and lower eyelid fat pad may be a special phenotype of c.458dupG variant of the OBSL1 gene. Our study may provide a useful reference for evaluating the relationship between genotype and phenotype of 3-M syndrome type 2.


Subject(s)
Cytoskeletal Proteins , Dwarfism , Female , Genomics , Humans , Molecular Biology , Muscle Hypotonia , Mutation , Pedigree , Spine/abnormalities , Whole Exome Sequencing
15.
Article in Chinese | WPRIM | ID: wpr-922020

ABSTRACT

OBJECTIVE@#To explore the clinical characteristics, genetic basis and clinical treatment of seven neonates with congenital nephrogenic diabetes insipidus (NDI).@*METHODS@#Clinical data of the patients were collected. High-throughput sequencing was carried out to detect potential variants. Sanger sequencing was used to verify the results.@*RESULTS@#The patients were all males, with the age of onset being 10 to 21 days. All patients were admitted to the hospital for intermittent fever as the first symptom during the neonatal period. Additional symptoms had included polydipsia and polyuria. After the treatment, 5 patients had recovered, the remainders still had NDI symptoms and developmental retardation. Five children were found to harbor pathogenic variants of the AVPR2/AQP2 gene, which included one in-frame mutation of c.645_646insGCACCTACCCTGGGTATCGCC, two missense mutations of c.541C>T and c.419C>A, and two hemizygous deletions of the AVPR2/AQP2 gene. Among these, two were unreported previously. Cases 6 and 7 were a pair of twins. Both had carried homozygous missense variants of c.538G>A of the AVPR2/AQP2 gene, which was known to be pathogenic.@*CONCLUSION@#AVPR2/AQP2 is the main pathogenic gene for congenital NDI, for which two novel pathogenic variants have been discovered in this study. Above results have provided a basis for clinical diagnosis and genetic counseling for the affected pedigrees.


Subject(s)
Aquaporin 2/genetics , Child , Diabetes Insipidus, Nephrogenic/genetics , Diabetes Mellitus , Humans , Infant, Newborn , Male , Molecular Biology , Mutation , Pedigree , Receptors, Vasopressin/genetics
16.
Chinese Journal of Biotechnology ; (12): 4446-4454, 2021.
Article in Chinese | WPRIM | ID: wpr-921520

ABSTRACT

Molecular biology is a biology course containing multiple core concepts and complex biological processes, which are organized in a strong logic. In order to help the medical students in college of traditional Chinese medicine (TCM) understand the content of this professional foundation course, we integrated the mind mapping model into the three sessions of teaching this course. First, putting forward teaching questions through a "nine grids analysis" model before the class teaching; second, transforming class teaching through a "six thinking hats" model; third, reviewing teaching content through a "pyramid principle" model, which helps students develop closed-loop thinking skills. The students' understandings to the course content were enhanced by connecting, merging and diverging the relevant knowledge through thinking visualization. According to the questionnaire, 91% of the students believe that the application of mind mapping model is an effective teaching method, which improves the teaching efficiency and effect. Furthermore, 76% of the students deem this method helps them improve their thinking ability and they also try to apply this method to the study process of other courses. Therefore, the application of mind mapping model in teaching plays an important role in fostering students' high-order thinking skills and provides a new approach for college curriculum teaching.


Subject(s)
Curriculum , Humans , Molecular Biology , Students , Thinking
17.
Article in Chinese | WPRIM | ID: wpr-888392

ABSTRACT

OBJECTIVE@#To review the clinical data of a fetus with false positive result of non-invasive prenatal testing (NIPT) due to confined placental mosaicism (CPM).@*METHODS@#Amniotic fluid sample was taken from a pregnant women with high risk for chromosome 16 aneuploidy for karyotyping analysis, single nucleotide polymorphism array (SNP array) and interphase fluorescence in situ hybridization (FISH). Genetic testing was also conducted on the fetal and maternal surface of the placenta, root of umbilical cord and fetal skin tissue after induced abortion.@*RESULTS@#Cytogenetic analysis of the amniotic fluid sample yielded a normal karyotype. SNP array revealed mosaicism (20%) of trisomy 16 in the fetus. FISH confirmed the presence of mosaicism (25%) for trisomy 16. After induced labor, all sampled sites of placenta were confirmed to contain trisomy 16 by SNP array, while the analysis of fetal skin tissue yielded a negative result.@*CONCLUSION@#CPM is an important factor for false positive NIPT result. Prenatal identification of CPM and strengthened pregnancy management are important to reduce adverse pregnancy outcomes.


Subject(s)
Amniocentesis , Chromosomes, Human, Pair 16/genetics , Cytogenetic Analysis , Female , Fetus , Humans , In Situ Hybridization, Fluorescence , Molecular Biology , Mosaicism , Placenta , Pregnancy , Prenatal Diagnosis , Trisomy/genetics
18.
Article in Chinese | WPRIM | ID: wpr-879611

ABSTRACT

OBJECTIVE@#To explore the molecular basis of two individuals with weak D variant of the Rh blood type.@*METHODS@#Routine serological testing was carried out to detect the D, C, c, E and e antigens of the Rh blood group. The D antigen was further detected with an indirect antiglobulin test. The presence of Rhesus box was detected by PCR to determine the homozygosity of the RHD gene.@*RESULTS@#Both samples were determined as weak D phenotype by the indirect antiglobulin test. DNA sequencing revealed that case 1 harbored a heterozygous 208C>T variant in exon 2 and a heterozygous 1227G>A variant in exon 9; while case 2 harbored homozygous 779A>G variants of exon 5 of the RHD gene. Case 1 was determined as RHD+/RHD+, while case 2 was determined as RHD+/RHD-. The two samples were respectively named as weak D type 122 and weak D type 149 based on the rules of Rhesus Base Nomenclature.@*CONCLUSION@#D negative blood donors should subject to indirect antiglobulin testing and molecular analysis for safer transfusion.


Subject(s)
Alleles , Blood Donors , Blood Grouping and Crossmatching , Genotype , Humans , Molecular Biology , Phenotype , Rh-Hr Blood-Group System/genetics
19.
Article in Chinese | WPRIM | ID: wpr-879569

ABSTRACT

OBJECTIVE@#To explore the clinical and genetic characteristics of a child with MEGDEL syndrome.@*METHODS@#Clinical data of the child was reviewed. Peripheral blood samples of the child and his parents were collected. Mitochondrial genome and the whole exome of the child were analyzed by next-generation sequencing. Candidate variants and its origin were verified by Sanger sequencing and fluorescence quantitative PCR.@*RESULTS@#The patient, a 2-year-and-6-month-old male, has featured hypoglycemia, mental and motor retardation with regression. Cranial MRI showed bilateral putamen damage suggestive of Leigh syndrome. Testing of urine organic acid indicated that the level of 3-methylpentenoic acid was slightly increased. Whole exome sequencing revealed that the child has harbored heterozygous deletion of exons 6 to 17 and c.307A>T nonsense variant of the SERAC1 gene, which were respectively inherited from his parents who were asymptomatic. Treatment with Levocarnitine, vitamin B1, vitamin B2, coenzyme Q10, baclofen and glucuronolactone resulted in improvement of sleep and mental state.@*CONCLUSION@#A case of MEGDEL syndrome without deafness was diagnosed. Discovery of the nonsense mutation and large fragment deletion have enriched the spectrum of SERAC1 gene variants.


Subject(s)
Child, Preschool , Hearing Loss, Sensorineural/genetics , Humans , Leigh Disease , Male , Metabolism, Inborn Errors/genetics , Molecular Biology , Mutation
20.
Med. lab ; 25(2): 463-465, 2021.
Article in Spanish | LILACS | ID: biblio-1292929

ABSTRACT

No hace muchos años la aproximación hacia las neoplasias malignas en seres humanos tenía un enfoque diagnóstico principalmente basado en los hallazgos morfológicos, y aunque teníamos conocimiento de la oncogénesis por virus desde hace casi medio siglo, este conocimiento no se había logrado integrar al diagnóstico, prevención y manejo oncológico [1]. En la década de los cincuenta, el entendimiento de la historia natural del cáncer de cuello uterino, con tiempos largos de evolución, permitió la implementación de protocolos de tamización, que hasta hace menos de una década, estaban basados en citologías cervicovaginales seriadas y regulares [2,3], sin mucho protagonismo en los algoritmos diagnósticos de la detección de variantes de alto riesgo del virus del papiloma humano (VPHAR) [4]. A pesar de que las pruebas moleculares se encuentran aprobadas para uso clínico desde aproximadamente el año 2001 [5], solo hasta el 2014 en países como Estados Unidos, se incorporó la detección de genotipos de VPH-AR como prueba de tamización principal, que determina la necesidad de estudios adicionales para la detección temprana del cáncer cervicouterino


Subject(s)
Humans , Alphapapillomavirus , Uterine Cervical Neoplasms , Molecular Biology , Neoplasms
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