Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 1.859
Filter
2.
Rev. epidemiol. controle infecç ; 13(3): 158-163, jul.-set. 2023. ilus
Article in English | LILACS | ID: biblio-1532001

ABSTRACT

Background and Objectives: Recently, complementary resources and equipment have emerged to improve prevention of healthcare-associated infections (HAIs). Our aim is to verify availability and use of different resources/ equipment by infection controllers. Methods: We conducted a survey with infection controllers from the State of Rio de Janeiro, Brazil, by invitation using a social media group, in August 2022. Nine different resources and equipment were evaluated. Categorical and continuous variables were evaluated by the chi-square test and Mann­Whitney U test, respectively. A p value of less than 0.05 was considered statistically significant. Results: One hundred and eight persons answered the questionnaire. The mean age was 42.8 years (SD +/- 8.5 years) and 53 (49.1%) reported most of their workload in public hospitals, 45 (41.7%) in private hospitals and 10 (9.2%) reported the same workload in public and private hospitals. Sixty-there percent reported teaching activities in their institutions. There was no correlation between the existence of teaching activities and hospital profile (p=0.42). The most common resource available was molecular biology (PCR) for microbiological samples research for 73 (67.6%) participants. The second resource most available was applications (Apps) for HAIs prevention and control for 33 (30.6%), 19 (17.6%) reported no availability of resource/equipment technology. Conclusion: Molecular biology (PCR) for microbiological samples research was the most common resource available for infection controllers of an important state of Brazil.(AU)


Justificativas e Objetivos: Recentemente, recursos e equipamentos complementares têm surgido para melhorar a prevenção de infecções relacionadas à assistência à saúde. O objetivo deste artigo é verificar a disponibilidade e o uso de diferentes recursos e equipamentos pelos controladores de infecção. Métodos: Realizamos uma pesquisa do tipo survey com controladores de infecção do estado do Rio de Janeiro, por meio de convite pela mídia social, em agosto de 2022. Nove diferentes recursos e equipamentos foram avaliados quanto à disponibilidade e ao uso. Variáveis categóricas e contínuas foram avaliadas pelo teste qui-quadrado e Mann-Whitney, respectivamente. Um valor de p menor que 0,05 foi considerado estatisticamente significativo. Resultados: Cento e oito pessoas responderam ao questionário. A média de idade foi de 42,8 anos (DP +/- 8,5 anos), e 53(49,1%) relataram maior carga de trabalho em hospitais públicos, 45 (41,7%) em hospitais privados e 10(9,2%) carga horária similar nos dois tipos de hospitais. Dos 108, 63% relataram a existência de atividades de ensino nas instituições. Não houve correlação entre existência de atividades de ensino e tipo de hospital (p=0,42). O recurso mais disponível foi o uso de biologia molecular (reação em cadeia de polimerase) por 73 (67,6%) participantes. A segunda ferramenta mais encontrada foi o uso de aplicativos para prevenção e controle de infecção para 33 (30,6%) desses participantes. Dezenove deles (17,6%) relataram ausência de todos os recursos/equipamentos. Conclusão: O uso de biologia molecular para pesquisa de amostras biológicas foi o recurso mais disponível para controladores de infecção de um importante estado brasileiro.(AU)


Antecedentes y objetivos: Recientemente han surgido recursos y equipos complementarios para mejorar la prevención de las infecciones asociadas a la atención de la salud. El objetivo es verificar la disponibilidad y el uso de diferentes recursos/equipos por los controladores de infecciones. Métodos: Realizamos una encuesta entre los controladores de infecciones del estado de Rio de Janeiro, Brasil, por invitación en redes sociales, en agosto de 2022. Se evaluó la disponibilidad y uso de nueve recursos y equipos diferentes. Las variables categóricas y continuas se evaluaron mediante las pruebas de chi-cuadrado y Mann-Whitney, respectivamente. Se consideró estadísticamente significativo un valor de p < 0.05. Resultados: Ciento ocho personas respondieron al cuestionario. La edad media fue de 42,8 años (DE +/- 8,5 años) y 53 (49,1%) reportaron mayor carga de trabajo en hospitales públicos, 45 (41,7%) en privados y 10 (9,2%) reportaron la misma carga en hospitales públicos y privados. De los 108, el 63% reportó actividades docentes en sus instituciones. No hubo correlación entre la existencia de actividades docentes y el tipo de hospital (p=0,42). El recurso más disponible fue el uso de la biología molecular (reacción en cadena de la polimerasa) por 73 (67,6%) participantes. El segundo más común fue el uso de aplicaciones de prevención y control de infecciones por 33 (30,6%) participantes. Diecinueve participantes (17,6%) señalaron la ausencia de todos los recursos/equipos. Conclusiones: El uso de la biología molecular para investigar muestras microbiológicas fue el recurso/equipo más disponible para los controladores de infecciones de un importante estado brasileño.(AU)


Subject(s)
Humans , Cross Infection , Infection Control , Biomedical Technology , Surveys and Questionnaires , Molecular Biology
3.
Med. infant ; 30(2): 168-171, Junio 2023.
Article in Spanish | LILACS, UNISALUD, BINACIS | ID: biblio-1443722

ABSTRACT

Las técnicas de Biología Molecular de última generación, como es la secuenciación masiva en paralelo o NGS (Next Generation Sequencing), permite obtener gran cantidad de información genómica, la cual muchas veces va más allá de la detección de una variante patogénica en un gen que explique la patología (hallazgo primario). Es así como surgió desde hace años la discusión internacional respecto a la decisión a tomar frente a los hallazgos secundarios accionables, es decir, aquellos hallazgos de variantes clasificadas como patogénicas o probablemente patogénicas que no están relacionadas con el fenotipo del paciente, pero que tiene alguna medida preventiva o tratamiento posible y, por lo tanto, podría ser de utilidad para la salud del paciente. Luego de revisar la bibliografía internacional y debatir entre los expertos del Hospital de Pediatría Garrahan, se logró establecer una política institucional y reforzar el hecho de que se trata de una disciplina multidisciplinaria. Así, fue posible definir que solo se atenderá las cuestiones relacionadas con la edad pediátrica, dejando para un tratamiento posterior aquellas variantes detectadas en genes que sean accionables en edad adulta. En el Hospital Garrahan, ha sido posible definir claramente cómo proceder frente a los hallazgos secundarios, al adaptar el consentimiento informado a esta necesidad, definiendo cuándo serán informados, y sabiendo que serán buscados intencionalmente en los genes clínicamente accionables enlistados en la última publicación del American College of Medical Genetics and Genomics, siempre y cuando el paciente/padre/tutor lo consienta (AU)


The latest generation of molecular biology techniques, including massive parallel sequencing or NGS (Next Generation Sequencing), allows us to obtain a whealth of genomic information, which often goes beyond the detection of a pathogenic variant in a gene that explains the pathology (primary finding). As a result, an international discussion has arisen over the years regarding the decision-making concerning actionable secondary findings, it means, those findings of variants classified as pathogenic or probably pathogenic that are not related to the patient's phenotype, but which have some possible preventive measure or treatment and, therefore, could be useful for the patient's health. After reviewing the international literature and discussing among the experts of the Hospital de Pediatría Garrahan, an institutional policy was established and the concept that this is a multidisciplinary discipline was reinforced. Consequently, it has been defined that only issues related to children will be addressed, reserving those variants detected in genes that are actionable in adulthood for later treatment. At Garrahan Hospital, we were able to clearly define how to proceed with secondary findings by adapting the informed consent to this need, defining when they will be reported, and knowing that they will be intentionally searched for in the clinically actionable genes listed in the latest publication of the American College of Medical Genetics and Genomics, as long as the patient/parent/guardian consents (AU)


Subject(s)
Humans , Genome, Human/genetics , Incidental Findings , High-Throughput Nucleotide Sequencing , Genomic Medicine/trends , Hospitals, Pediatric , Molecular Biology/trends , Informed Consent
4.
Int. j. morphol ; 41(2): 591-599, abr. 2023. ilus, tab
Article in English | LILACS | ID: biblio-1440342

ABSTRACT

SUMMARY: Obesity is commonly associated with chronic tissue inflammation and skeletal muscle dysfunction. The study aimed to investigate the effects of High-Intensity Interval training (HIIT) on myokines and endoplasmic reticulum (ER) stress of diet- induced obese (DIO) mice. Three-month-old C57BL/6 male mice were fed a control (C) diet (n=20) or a high-fat (HF) diet (n=20) for 16 weeks. Then, half of the groups underwent HIIT (treadmill running) for an additional four weeks. HIIT increased calf muscles' contribution to BW (+24 %) and reduced weight gain in HF/HIIT than in HF (-120 %). Intramuscular fat accumulation was observed in HF and HF/ HIIT. Peak velocity was higher in HF/HIIT compared to HF (+26 %). Plasma insulin did not change, but glycemia was lower in HF/HIIT than in HF (-30 %). Fndc5 (+418 %) and Irisin (+72 %) were higher in HF/HIIT than in HF. Muscle Fgf21 was higher in HF/HIIT compared to HF (+30 %). In addition, NfKb (-53 %) and Tnfa (-63 %) were lower in HF/HIIT than in HF. However, Il1b (-86 %), Il6 (- 48 %), Il7 (-76 %), and Il15 (-21 %) were lower in HF/HIIT than in HF. Finally, HIIT reduced ER stress in HF/HIIT compared to HF: Atf4, -61 %; Chop, -61 %; Gadd45, -95 %. In conclusion, HIIT leads to weight loss and avoids muscle depletion. HIIT improves blood glucose, Irisin-Fndc5, and peak velocity. In addition, HIIT mitigates muscle inflammation and ER stress.


La obesidad es asociada comúnmente con inflamación tisular crónica y disfunción del músculo esquelético. El estudio tuvo como objetivo investigar los efectos del entrenamiento de intervalos de alta intensidad (HIIT) en las mioquinas y el estrés del retículo endoplásmico (ER) de ratones obesos inducidos por dieta (DIO). Se alimentó a ratones macho C57BL/6 de tres meses de edad con una dieta control (C) (n=20) o una dieta rica en grasas (HF) (n=20) durante 16 semanas. Luego, la mitad de los grupos se sometieron a HIIT (carrera en una trotadora) durante cuatro semanas más. HIIT aumentó la contribución de los músculos de la pantorrilla al BW (+24 %) y redujo el aumento de peso en HF/HIIT en HF (-120 %). Se observó acumulación de grasa intramuscular en HF y HF/HIIT. La velocidad máxima fue mayor en HF/HIIT en comparación con HF (+26 %). La insulina plasmática no cambió, pero la glucemia fue menor en HF/HIIT que en HF (-30 %). Fndc5 (+418 %) e Irisin (+72 %) fueron mayores en HF/HIIT que en HF. El Fgf21 muscular fue mayor en HF/ HIIT en comparación con HF (+30 %). Además, NfKb (-53 %) y Tnfa (-63 %) fueron menores en HF/HIIT que en HF. Sin embar- go, Il1b (-86 %), Il6 (-48 %), Il7 (-76 %) e Il15 (-21 %) fueron más bajos en HF/HIIT que en HF. Finalmente, HIIT redujo el estrés de RE en HF/HIIT en comparación con HF: Atf4, -61 %; Picar, - 61 %; Gadd45, -95 %. En conclusión, HIIT conduce a la pérdida de peso y evita el agotamiento muscular. HIIT mejora la glucosa en sangre, Irisin-Fndc5 y la velocidad máxima. Además, HIIT mitiga la inflamación muscular y el estrés ER.


Subject(s)
Animals , Male , Mice , Cytokines/physiology , Muscle, Skeletal/physiology , Endoplasmic Reticulum Stress/physiology , High-Intensity Interval Training , Obesity , Gene Expression , Inflammation , Mice, Inbred C57BL , Molecular Biology
5.
São Paulo; s.n; 2023. 165 p.
Thesis in Portuguese | LILACS | ID: biblio-1517885

ABSTRACT

Introdução - As fêmeas do gênero Mansonia Blanchard, 1901 depositam seus ovos na face inferior das folhas de plantas aquáticas presentes em coleções de água doce. Após a eclosão, as larvas e, depois, as pupas se mantêm fixadas aos tecidos submersos das plantas. Assim que emergem, as fêmeas adultas hematófagas buscam, voraz e agressivamente, vertebrados que possam lhes servir como fontes de repasto sanguíneo. Esse comportamento pode prejudicar severamente a Saúde Pública e a economia em áreas com altas densidades populacionais de Mansonia spp. Para além do incômodo causado pelas picadas, algumas espécies transmitem patógenos aos humanos em certas regiões geográficas. Para que sejam eficazes, as medidas de monitoramento e controle das populações de Mansonia spp. devem ser planejadas com base na biologia de cada espécie e seus padrões de interação com fatores bióticos e abióticos nos ecossistemas. Dessa forma, a identificação acurada dos exemplares coletados em pesquisas de campo é fundamental, mas é dificultada pelos padrões de heteromorfismo intraespecífico e isomorfismo interespecífico historicamente observados. Objetivo - Adquirir conhecimentos inéditos para o planejamento de ações de monitoramento e controle populacional de Mansonia (Mansonia) spp. Métodos - Realizaram-se: ampla revisão bibliográfica narrativa; coletas de espécimes imaturos e adultos em três regiões do Brasil; identificação morfológica das amostras em nível específico; sequenciamento da região código de barras do gene mitocondrial codificador da subunidade I da enzima oxidase do citocromo c (COI); e análise das sequências por meio de cinco métodos diferentes, baseados em distâncias genéticas estimadas com o modelo Kimura dois-parâmetros (Neighbor joining, ABGD, ASAP e RESL) e em inferência filogenética de máxima verossimilhança (mPTP). Resultados - Os conteúdos bibliográficos examinados foram enfeixados em um único manuscrito que apresenta, em síntese, dados de Mansonia spp. sobre desenvolvimento, interações com hospedeiros, padrões alimentares, importância epidemiológica e adaptabilidade a ambientes antropogênicos, entre outros. A análise das amostras de imaturos do lago da Usina Hidrelétrica Santo Antônio revela evidências de alternância na associação com as diferentes espécies de macrófitas do local e o registro inédito de larvas de Mansonia humeralis associadas às raízes de Limnobium laevigatum. Trezentas e vinte e sete novas sequências da região código de barras do gene COI foram geradas a partir de exemplares de Mansonia (Mansonia) spp. A identificação baseada na morfologia apontou oito espécies na amostra de culicídeos. Os resultados dos cinco métodos implementados para a segregação das sequências em unidades taxonômicas operacionais (UTOs) foram majoritariamente congruentes. Os padrões de polimorfismo das sequências permitiram distinguir as oito espécies, corroborando a prévia identificação morfológica. No entanto, há evidências de que ao menos três dos táxons morfologicamente definidos podem representar complexos de espécies taxonomicamente desconhecidas. Foram obtidos os primeiros registros da região código de barras do gene COI para Mansonia fonsecai, Mansonia iguassuensis e Mansonia pseudotitillans. Conclusões - A reunião de informações referenciadas no manuscrito resultante da revisão bibliográfica facilitará a consulta para pesquisas futuras. A publicação dos dados inéditos sobre taxonomia molecular e associação com macrófitas aquáticas beneficiará o planejamento para o monitoramento e controle populacional de Mansonia spp.


Introduction - Females of the genus Mansonia Blanchard, 1901 lay their eggs on the underside of aquatic plant leaves in freshwater collections. After hatching, the larvae and later the pupae remain attached to the submerged plant tissues. As soon as they emerge, the hematophagous adult females search, voraciously and aggressively, for vertebrate sources of blood meal. In areas with high population densities of Mansonia spp. this behavior can severely harm Public Health and economics. In addition to the nuisance caused by bites, some species transmit pathogens to humans in certain geographic regions. To be effective, Mansonia spp. monitoring and control should be planned on the basis of the biology each species and its patterns of interaction with biotic and abiotic factors. Therefore, accurate field-collected specimens identification is essential, but it is hampered by historically observed patterns of intraspecific heteromorphism and interspecific isomorphism. Objective - To acquire unprecedented knowledge for planning actions to monitor and control population of Mansonia (Mansonia) spp. Methods - The following activities were carried out: a broad narrative bibliographical review; collections of immature and adult specimens in three Brazilian regions; morphological identification of samples at the species level; cytochrome c oxidase subunit I (COI) mitochondrial gene barcode region sequencing; and sequence analysis using five different methods, based on Kimura two-parameter genetic distances (Neighbor joining, ABGD, ASAP and RESL) and maximum likelihood phylogenetic inference (mPTP). Results - The bibliographic contents examined were assembled into a single manuscript that summarizes data on Mansonia spp. development, hosts, feeding patterns, epidemiological importance and adaptability to anthropogenic environments, among others. The analysis of immature samples from the Santo Antônio Hydroelectric Power Plant dam shows evidence of alternation in the attachment to host plant species and the unprecedented record of Mansonia humeralis larvae attached to Limnobium laevigatum roots. Three hundred and twenty-seven new COI barcode sequences were generated from Mansonia (Mansonia) spp. specimens. Morphology-based identification found eight species in the sample. The results for sequence segregation into operational taxonomic units (OTUs) were mostly congruent among five analysis methods. Sequence polymorphism patterns allowed the identification of eight species, corroborating the previous morphological identification. However, there is evidence that at least three of the morphology-based taxa may represent taxonomically unknown species complexes. The first records of COI barcodes for Mansonia fonsecai, Mansonia iguassuensis and Mansonia pseudotitillans were obtained. Conclusions - The referenced information gathered into the resulting manuscript from bibliographic review will contribute to future research. The publication of unprecedent data on molecular taxonomy and attachment to aquatic macrophytes will benefit the planning for Mansonia spp. monitoring and population control.


Subject(s)
Arbovirus Infections , Dams , Impoundments , Vector Control of Diseases , Hydroelectric Power Plants (Environmental Health) , Ecology , DNA Barcoding, Taxonomic , Filariasis , Mosquito Vectors , Molecular Biology
6.
Edumecentro ; 152023.
Article in Spanish | LILACS | ID: biblio-1440044

ABSTRACT

Fundamento: la asignatura Biología Molecular ha presentado insuficiencias en el proceso enseñanza aprendizaje en la Facultad de Ciencias Médicas de Holguín, las que requieren solución. Objetivo: valorar la efectividad de una metodología de aprendizaje profesional basada en proyectos en la asignatura Biología Molecular como forma de perfeccionar el proceso de enseñanza aprendizaje. Métodos: se realizó una investigación de desarrollo en la Facultad de Ciencias Médicas de Holguín durante el curso 2021. Se emplearon los métodos teóricos: histórico-lógico, analítico-sintético y el inductivo-deductivo; empíricos: el análisis documental y el registro de las calificaciones de las preguntas de la primera convocatoria del examen final de la asignatura. Se realizaron pruebas estadísticas a los resultados de la evaluación final. Se utilizó una metodología de aprendizaje basada en proyectos para la implementación de la Biología Molecular, aplicada a una parte del contenido del programa analítico de la asignatura, que utilizó guías didácticas para los estudiantes y orientaciones metodológicas a los profesores, con el soporte de videos complementarios a las conferencias y a contenidos de currículo oculto, relacionados con la vinculación básico-clínica con orientación profesionalizante. Resultados: las preguntas del examen final cuyo contenido fue tratado según la metodología de proyecto de aprendizaje mostraron significativamente mejores resultados que aquellas tratadas de forma convencional. Conclusiones: la metodología de aprendizaje basada en proyectos para la asignatura Biología Molecular se determinó factible para su aplicación y proporcionó la flexibilidad necesaria para el tránsito de la docencia presencial a la modalidad a distancia.


Background: the Molecular Biology subject has presented insufficiencies in the teaching-learning process Holguín Faculty of Medical Sciences, which require a solution. Objective: to assess the effectiveness of a project-based professional learning methodology in the Molecular Biology subject as a way to improve the teaching-learning process. Methods: a development investigation was carried out at the Holguín Faculty of Medical Sciences during the 2021 academic year. Theoretical methods were used: historical-logical, analytical-synthetic and inductive-deductive; Empirical ones: the documentary analysis and the record of the qualifications of the questions of the first call of the final exam of the subject. Statistical tests were performed on the results of the final evaluation. A project-based learning methodology was used for the implementation of Molecular Biology, applied to a part of the content of the analytical program of the subject, which used didactic guides for students and methodological orientations for teachers, with the support of complementary videos to the lectures and hidden curriculum contents, related to the basic-clinical link with a professional orientation. Results: the final exam questions where its content was treated according to the learning project methodology showed significantly better results than those treated conventionally. Conclusions: the project-based learning methodology for the Molecular Biology subject was determined feasible for its application and provided the necessary flexibility for the transition from face-to-face teaching to distance learning.


Subject(s)
Students , Education, Distance , Education, Medical , Faculty , Learning , Molecular Biology
7.
Med. lab ; 27(3): 197-198, 2023.
Article in Spanish | LILACS | ID: biblio-1444004

ABSTRACT

De acuerdo con las estadísticas de GLOBOCAN 2020, el cáncer de tiroides ocupa el noveno lugar de incidencia a nivel mundial [1]. Afecta en su mayoría a mujeres en un 75 %, y aunque puede presentarse a cualquier edad, la mediana al momento del diagnóstico es alrededor de los 50 años [2]. En los últimos 5 a 10 años, el manejo del cáncer de tiroides ha sufrido una transformación, con nuevas opciones de diagnóstico, incluyendo las pruebas moleculares, y de tratamiento. El Laboratorio Clínico Hematológico y la revista Medicina & Laboratorio realizaron el pasado mes de junio el Segundo Simposio de Medicina Diagnóstica. Conversemos de: Nódulo Tiroideo y Cáncer de Tiroides, con la participación de expositores nacionales e internacionales expertos en el tema. Los resúmenes han sido incluidos en el presente número de la revista. El doctor Alejandro Román-González en su conferencia "Actualización en el estudio del nódulo tiroideo", abarca paso a paso la conducta a seguir desde la detección de un nódulo tiroideo, su clasificación y posible tratamiento. Además, alerta a la sensibilización del clínico ante la angustia que padece un paciente que presenta un nódulo tiroideo. El doctor Alejandro Vélez-Hoyos con su presentación "Actualización del sistema de reporte Bethesda de citología de tiroides 2023", hace un recuento de dicho sistema desde su creación, y expone la clasificación más reciente del sistema Bethesda para tiroides, tanto en adultos como en niños. El doctor Roberto Ruiz-Cordero en su conferencia "La relevancia del análisis molecular en el diagnóstico y manejo de los nódulos tiroideos, y su utilidad como medida de control de calidad entre citopatólogos", menciona cómo el estudio genómico ha alcanzado grandes avances en el cáncer de tiroides, permitiendo la identificación de mutaciones de los genes RAS y la mutación BRAF p.V600E, entre otras. Adicionalmente, expone cómo el análisis molecular ha surgido como una herramienta crítica en el diagnóstico y manejo de los nódulos tiroideos, al mejorar significativamente la precisión diagnóstica y el número de intervenciones quirúrgicas innecesarias.


The Clinical Hematology Laboratory and the Medicina & Laboratorio Journal held the Second Diagnostic Medicine Symposium last June. Let's talk about: Thyroid Nodule and Thyroid Cancer, with the participation of national and international speakers who are experts on the subject. The abstracts have been included in this issue of the journal.


Subject(s)
Humans , Thyroid Nodule , Thyroid Neoplasms , Molecular Biology
8.
Chinese Journal of Pathology ; (12): 599-605, 2023.
Article in Chinese | WPRIM | ID: wpr-985739

ABSTRACT

Objective: To investigate the clinicopathological and molecular features of primary cardiac angiosarcoma (PCAS), and to analyze the correlation between KDR mutation and the clinicopathological features of PCAS. Methods: Thirteen cases of PCAS were collected at Beijing Anzhen Hospital, Capital Medical University from January 2007 to December 2021. The clinicopathological features, diagnosis, differential diagnosis and outcome were retrospectively analyzed. KDR mutation was detected by next-generation sequencing (NGS) and then the expression of KDR (VEGFR2) was determined by immunohistochemistry (IHC), with review of relevant literatures. Results: There were eight males and five females with a mean age of 45 years. The primary tumor was in the right atrium in 10 cases, left atrium in two cases and right ventricle in one case. The histomorphology was mainly poorly differentiated angiosarcoma (11 cases), with highly pleomorphic spindle or round cells in solid sheets, brisk mitotic activity and extensive necrosis. Vascular lumen formation was observed in two cases of high to moderate differentiation, and biphenotypic differentiation was seen in five cases. IHC staining showed CD34, CD31, Fli1, ERG and vimentin were diffusely positive, pan-cytokeratin was positive, Ki-67 index ranged from 3% to 90%, which was positively correlated with the differentiation degree and grade of the PCASs (P<0.05). At the end of follow-up period, one patient was alive, two patients were lost to follow-up, and the remaining 10 patients had an average survival time of 4.6 months. Finally, NGS sequencing was performed on seven samples after screening, and the results showed that KDR and NF1 mutations were both present in three cases. VEGFR2 expression had no significant correlation with the differentiation degree and grade of PCAS (P>0.05), and it was not related to KDR mutation. Conclusions: PCASs mainly occur in the right atrium, and are mainly poorly differentiated. Ki-67 index is helpful to assess the degree and grade of tumor differentiation. The occurrence and development of PCAS may be related to the pathway involved in KDR mutation, but KDR mutation has no clear correlation with clinicopathological characteristics of PCAS, and immunohistochemical staining can not replace gene detection to determine whether the tumor had KDR mutation.


Subject(s)
Male , Female , Humans , Middle Aged , Hemangiosarcoma/genetics , Retrospective Studies , Ki-67 Antigen , Immunohistochemistry , Molecular Biology , Biomarkers, Tumor/analysis
9.
Chinese Journal of Biotechnology ; (12): 780-789, 2023.
Article in Chinese | WPRIM | ID: wpr-970407

ABSTRACT

Biochemistry and Molecular Biology are the cornerstone courses of talent training in the field of life science. Taking these course as an example, this study explored reconstructing the knowledge framework, developing teaching cases, sharing teaching resources, innovating teaching means and establishing ideological education patterns. Supported by the scientific research achievements with discipline characteristics and online teaching platform, this research explored and practiced an integrated curriculum reform mode. This mode is guided by scientific research and education, based on the course development, and driven by communication and cooperation. A shared space of "exchange, practice, openness and informatization" was developed to achieve free and independent integration of undergraduate and graduate teaching motivated by learning knowledge, resulting in an effective student training.


Subject(s)
Humans , Curriculum , Students , Learning , Molecular Biology/education , Biochemistry/education
10.
Chinese Journal of Preventive Medicine ; (12): 253-258, 2023.
Article in Chinese | WPRIM | ID: wpr-969875

ABSTRACT

The molecular genetic characteristics of a family with rare -88 C>G (HBB: c.-138 C>G) β-thalassemia gene mutation were studied using cohort study. The cohort study was conducted from June to August 2022 by Prenatal Diagnosis Center of Sanya Women and Children's Hospital Managed by Shanghai Children's Medical Center. The phenotype and genotype were analyzed by hematological cytoanalyzer, automatic electrophoretic analysis system, and next-generation sequencing (NGS). And then, Sanger sequencing was used to verify the rare gene results. The results showed that the proband, her father, her uncle and her younger male cousin had discrete microcytosis (MCV 70.1 fl, 71.9 fl, 73.1 fl and 76.6 fl, respectively) and hypochromia (MCH 21.5 pg,22.0 pg,22.6 pg and 23.5 pg, respectively), elevated hemoglobin A2 level (5.3%, 5.4%, 5.4% and 5.5%, respectively), slightly elevated or normal fetal hemoglobin (Hb F), but no anemia. The proband was identified to have co-inherited ɑ-thalassemia (Hb Westmead gene heterozygous mutation, ɑwsɑ/ɑɑ) and β-thalassemia with a rare -88 C>G (HBB: c.-138 C>G) heterozygous mutation (β-88 C>G/βN). Her mother had the same α-thalassemia as the proband. Her father, her uncle and her younger male cousin had the same rare -88 C>G heterozygous mutations as the proband. While her grandmother and younger brother were not carrier of thalassemia. In conclusion, 4 cases of rare -88 C>G(HBB:c.-138 C>G) heterozygous mutation had been detected in a Chinese family. Carriers of this beta-thalassemia are clinically asymptomatic. This study enriches the knowledge of the thalassemia mutation spectrum in Chinese people and provides valuable information for genetic counseling, prenatal diagnosis, and prevention of thalassemia, providing a scientific basis for improving the quality of birth population and preventing birth defects.


Subject(s)
Female , Humans , Male , alpha-Thalassemia/genetics , beta-Globins/genetics , beta-Thalassemia/diagnosis , China , Cohort Studies , Genotype , Molecular Biology , Mutation
11.
Journal of Forensic Medicine ; (6): 161-167, 2023.
Article in English | WPRIM | ID: wpr-981850

ABSTRACT

With the advance of molecular biology, DNA analysis technology has been widely applied in forensic science. Non-human DNA analysis can be used in some special cases and has unique forensic value to provide investigation clues and trial basis. Animal DNA typing plays a more prominent role in the detection of all kinds of non-human DNA related cases and is the main content of forensic non-human DNA analysis. This paper reviews the development history, present situation, advantages and disadvantages of animal DNA typing according to its technology, characteristic, challenges facing forensic science application scenarios, and also its future development.


Subject(s)
Animals , DNA Fingerprinting , Forensic Medicine , DNA/analysis , Forensic Sciences , Molecular Biology , Forensic Genetics
12.
Chinese Journal of Medical Genetics ; (6): 856-859, 2023.
Article in Chinese | WPRIM | ID: wpr-981836

ABSTRACT

OBJECTIVE@#To analyze the clinical features and genotype of a child with Schmid type metaphyseal chondrodysplasia.@*METHODS@#Clinical data of the child and her parents was collected. The child was subjected to high-throughput sequencing, and candidate variant was verified by Sanger sequencing of her family members.@*RESULTS@#Whole exome sequencing revealed that the child has harbored a heterozygous c.1772G>A (p.C591Y) variant of the COL10A1 gene, which was not found in either of her parents. The variant was not found in the HGMD and ClinVar databases, and was rated as likely pathogenic based on the guidelines from the American College of Medical Genetics and Genomics (ACMG).@*CONCLUSION@#The heterozygous c.1772G>A (p.C591Y) variant of the COL10A1 gene probably underlay the Schmid type metaphyseal chondrodysplasia in this child. Genetic testing has facilitated the diagnosis and provided a basis for genetic counselling and prenatal diagnosis for this family. Above finding has also enriched the mutational spectrum of the COL10A1 gene.


Subject(s)
Humans , Child , Female , Mutation , Osteochondrodysplasias/diagnosis , Heterozygote , Molecular Biology
13.
Chinese Journal of Medical Genetics ; (6): 750-755, 2023.
Article in Chinese | WPRIM | ID: wpr-981820

ABSTRACT

OBJECTIVE@#To explore the serological characteristics of ABO blood group and molecular genetic mechanism for a Chinese pedigree with cisAB09 subtype.@*METHODS@#A pedigree undergoing ABO blood group examination at the Department of Transfusion, Zhongshan Hospital Affiliated to Xiamen University on February 2, 2022 was selected as the study subjects. Serological assay was carried out to determine the ABO blood group of the proband and his family members. Activities of A and B glycosyltransferases in the plasma of the proband and his mother were measured with an enzymatic assay. Expression of A and B antigens on the red blood cells of the proband was analyzed by flow cytometry. Peripheral blood samples of the proband and his family members were collected. Following extraction of genomic DNA, exons 1 to 7 of the ABO gene and their flanking introns were sequenced, and Sanger sequencing of exon 7 was carried out for the proband, his elder daughter and mother.@*RESULTS@#The results of serological assay suggested that the proband and his elder daughter and mother had an A2B phenotype, whilst his wife and younger daughter had an O phenotype. Measurement of plasma A and B glycosyltransferase activity suggested that the titers of B-glycosyltransferase activity were 32 and 256 for the proband and his mother, which were respectively below and above that of A1B phenotype-positive controls (128). Flow cytometry analysis showed that the expression of A antigen on the red blood cell surface of the proband has decreased, whilst the expression of B antigen was normal. Genetic sequencing confirmed that, in addition to an ABO*B.01 allele, the proband, his elder daughter and mother have harbored a c.796A>G variant in exon 7, which has resulted in substitution of the methionine at 266th position of the B-glycosyltransferase by valine and conformed to the characteristics of ABO*cisAB.09 allele. The genotypes of the proband and his elder daughter were determined as ABO*cisAB.09/ABO*O.01.01, his mother was ABO*cisAB.09/ABO*B.01, and his wife and younger daughter were ABO*O.01.01/ABO*O.01.01.@*CONCLUSION@#The c.796A>G variant of the ABO*B.01 allele has resulted in an amino acid substitution p.Met266Val, which probably underlay the cisAB09 subtype. The ABO*cisA B.09 allele encodes a special glycosyltransferase which can synthesize normal level of B antigen and low level of A antigen on the red blood cells.


Subject(s)
Humans , ABO Blood-Group System/genetics , Pedigree , East Asian People , Genotype , Phenotype , Alleles , Glycosyltransferases/genetics , Molecular Biology
14.
Chinese Journal of Medical Genetics ; (6): 609-613, 2023.
Article in Chinese | WPRIM | ID: wpr-981798

ABSTRACT

OBJECTIVE@#To screen for Jk(a-b-) phenotype among blood donors from Jining area and explore its molecular basis to enrich the rare blood group bank for the region.@*METHODS@#The population who donated blood gratuitously at Jining Blood Center from July 2019 to January 2021 were selected as the study subjects. The Jk(a-b-) phenotype was screened with the 2 mol/L urea lysis method, and the result was confirmed by using classical serological methods. Exons 3 to 10 of the SLC14A1 gene and its flanking regions were subjected to Sanger sequencing.@*RESULTS@#Among 95 500 donors, urea hemolysis test has identified three without hemolysis, which was verified by serological method as the Jk(a-b-) phenotype and demonstrated no anti-Jk3 antibody. The frequency of the Jk(a-b-) phenotype in Jining area is therefore 0.0031%. Gene sequencing and haplotype analysis showed that the genotypes of the three samples were JK*02N.01/JK*02N.01, JK*02N.01/JK-02-230A and JK*02N.20/JK-02-230A, respectively.@*CONCLUSION@#The splicing variant of c.342-1G>A in intron 4, missense variants of c.230G>A in exon 4, and c.647_ 648delAC in exon 6 probably underlay the Jk(a-b-) phenotype in the local population, which is different from other regions in China. The c.230G>A variant was unreported previously.


Subject(s)
Humans , Phenotype , Blood Donors , Hemolysis , Kidd Blood-Group System/genetics , Urea , Molecular Biology
15.
Journal of Peking University(Health Sciences) ; (6): 181-185, 2023.
Article in Chinese | WPRIM | ID: wpr-971293

ABSTRACT

To summarize the clinical diagnosis and treatment process and genetic test results and characteristics of one child with Angelman syndrome (AS) complicated with oculocutaneous albinism type 2 (OCA2), and to review the literature. "Angelman syndrome" "P gene" and "Oculocutaneous albinism type 2" were used as keywords to search at CNKI, Wanfang, and PubMed databases (from creation to December 2019). Then all the patients were analyzed. The patient in this study was a girl aged 1 year. After birth, she was found to present as white body, yellow hair, and nystagmus. She could raise her head at the age of 2 months and turn over at the age of 7 months. The head circumference was 42 cm and she could not sit alone or speak at present. Trio-based exome sequencing revealed that the patient carried a homozygous mutation of c.168del (p.Gln58ArgfsTer44) in the P gene, and her father was heterozygous and her mother was wild-type. The detection of copy number variation showed deletion on the maternal chromosome at 15q11.2-13.1 region (P gene located in this region) in the patient. Until December 2019, a total of 4 cases in the 4 literature had been reported. Adding our case here, the 5 cases were summarized and found that all the cases showed white skin, golden hair, and shallow iris after birth. Comprehensive developmental delay was found around 6 months of age after birth, and the language remained undeveloped in 2 cases till follow-up into childhood. Seizures occurred in 4 patients. Two cases had ataxia. All the 5 cases had acquired microcephaly. Two cases had a family history of albinism. Electroencephalogram monitoring was completed in 3 cases and the results were abnormal. Genetic tests showed that all the 5 cases had deletion on maternal chromosome at 15q11-13 region. Four cases carried mutation of P gene on paternal chromosome. And 1 case was clinically diagnosed as OCA2 without P gene test. AS combined with OCA2 is relatively rare. OCA2 is easily diagnosed based on the obvious clinical manifestations after birth. When combined with clinical manifestations such as neurodevelopmental delay, it might indicate the possibility of AS that is hardly diagnosed clinically at an early stage. Genetic tests can reveal the cross-genetic phenomenon of AS and OCA2 and the complex of them can be eventually diagnosed.


Subject(s)
Female , Humans , Infant , Albinism, Oculocutaneous/genetics , DNA Copy Number Variations , Membrane Transport Proteins/genetics , Molecular Biology , Mutation
16.
Rev. ADM ; 79(5): 257-263, sept.-oct. 2022. ilus, tab
Article in Spanish | LILACS | ID: biblio-1426815

ABSTRACT

Introducción: existen diversos patógenos que pueden afectar no sólo la salud periodontal, sino también la salud general de los pacientes. Objetivo: determinar la Porphyromonas gingivalis (PG) en el primer molar superior derecho de adolescentes, de entre 12 y 18 años, con al menos un mes de tratamiento de ortodoncia con aparatología fija. Material y métodos: se realizó un estudio observacional, descriptivo, transversal de casos en un grupo de 26 adolescentes con tratamiento de ortodoncia, compuesto de brackets metálicos, tubos o bandas, arcos NiTi termoactivos, módulos, cadenas o ligaduras; sin importar sexo, edad, tiempo de tratamiento o maloclusión. Se formaron dos pares de grupos 1 y 2 (15 mujeres y 11 hombres), A y B (13 mujeres y 13 hom- bres) comparando los resultados obtenidos entre los grupos. Resulta- dos: dentro del grupo 1 y 2 la detección molecular de microorganismos arroja que 80% fueron positivas a la PG, 58.33% presenta maloclusión y en promedio 89% de las pacientes son positivas a PG. La detección molecular del grupo A y B indica que 54.54% fueron positivos a PG, mientras que 83.3% presenta maloclusión y en promedio 47% son positivos a PG. Conclusión: la explicación de los eventos moleculares que se desencadenan en la cavidad oral y los sistemas afectados por PG contribuyen a la prevención de complicaciones al tener una mejor comprensión de los fenómenos infecciosos (AU)


Introduction: there are various pathogens that can affect not only periodontal health, but also the general health of patients. Objective: to determine Porphyromonas gingivalis (PG) in the upper right first molar of adolescents, between 12 and 18 years old, with at least one month of orthodontic treatment with fixed appliances. Material and methods: a cross-sectional descriptive observational study of cases was carried out in a group of 26 adolescents with orthodontic treatment, consisting of metal brackets, tubes or bands, thermoactive NiTi archwires, modules, chains or ligatures; regardless of sex, age, treatment time or malocclusion. Two pairs of groups 1 and 2 (15 women and 11 men), A and B (13 women and 13 men) were formed, comparing the results obtained between the groups. Results: within group 1 and 2, the molecular detection of microorganisms shows that 80% were positive for PG, 58.33% presented malocclusion and an average of 89% of patients were positive for PG. The molecular detection of group A and B indicates that 54.54% were positive for PG while 83.3% presented malocclusion and on average 47% were positive for PG. Conclusion: the explanation of the molecular events that are triggered in the oral cavity and the systems affected by PG contribute to the prevention of complications by having a better understanding of the infectious phenomena (AU)


Subject(s)
Humans , Male , Female , Child , Adolescent , Orthodontic Brackets/adverse effects , Porphyromonas gingivalis/isolation & purification , Dental Plaque/microbiology , Orthodontic Appliances, Fixed/adverse effects , Epidemiology, Descriptive , Cross-Sectional Studies , Gingival Crevicular Fluid/microbiology , Observational Study , Mexico , Molecular Biology/methods
17.
Rev. ADM ; 79(5): 276-283, sept.-oct. 2022. tab
Article in Spanish | LILACS | ID: biblio-1427970

ABSTRACT

El diagnóstico molecular, mediante la aplicación de técnicas molecu- lares, ha permitido estudiar microorganismos presentes en el inicio y progresión de la caries dental, enfermedad periodontal, y en los fracasos endodónticos. Las técnicas moleculares permiten la detección y cuan- tificación del material genético del ácido desoxirribonucleico (DNA), ácido ribonucleico (RNA) o proteínas, lo que posibilita el estudio del genoma completo o secuencias de DNA específicas. Estas técnicas surgen como una necesidad de detectar microorganismos de difícil o lento crecimiento en cultivos; la técnica más utilizada es la reacción en cadena de la polimerasa (PCR) que permite la amplificación de peque- ños segmentos de material genético al utilizar cebadores, por lo que es un método económico, preciso, sensible y rápido para la detección de microorganismos. El presente artículo de revisión bibliográfica servirá para informar sobre los avances de las técnicas moleculares utilizadas para el diagnóstico en la práctica odontológica (AU)


Molecular diagnosis, through the application of molecular techniques, has made it possible to study microorganisms present in the onset and progression of dental caries, periodontal disease, and endodontic failures. Molecular techniques allow the detection and quantification of the genetic material of deoxyribonucleic acid (DNA), ribonucleic acid (RNA) or proteins, allowing the study of the complete genome or specific DNA sequences, they arise as a need to detect difficult or slow growing microorganisms in cultures. The most widely used technique is the polymerase chain reaction (PCR) that allows the amplification of small segments of genetic material using primers, it is an economical, precise, sensitive and fast method for the detection of microorganisms. This bibliographic review article will serve to report on the advances in molecular techniques used for diagnosis in dental practice (AU)


Subject(s)
Polymerase Chain Reaction , Molecular Biology/methods , Periodontitis/diagnosis , Dental Caries/diagnosis , Dental Pulp Diseases/diagnosis
18.
Oncología (Guayaquil) ; 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
19.
Chinese Journal of Biotechnology ; (12): 1640-1648, 2022.
Article in Chinese | WPRIM | ID: wpr-927808

ABSTRACT

Teaching quality is directly related to the performance of universities in fostering talents. Being innovative, high-level, and challenging (IHC) is the basic goal of course reform at universities in the new era. It is essential to reform the contents and teaching mode to improve the IHC properties of the existing courses. We first designed the three-dimensional goals of Molecular Biology Experiment teaching and the contents to support these goals. Then, we pinpointed the common points shared by blended teaching and experiment course, and designed the ways of blended teaching for the course. The reformed course contents and teaching mode have enhanced its IHC properties, and achieved good teaching performance. This paper provides a reference for the reform of experiment courses in universities.


Subject(s)
Humans , Molecular Biology , Students , Universities
20.
Chinese Journal of Pathology ; (12): 425-430, 2022.
Article in Chinese | WPRIM | ID: wpr-935557

ABSTRACT

Objective: To investigate the clinicopathologic and molecular genetic characteristics, diagnosis, differential diagnosis, treatment and prognosis of histiocyte-rich rhabdomyoblastic tumor (HRRMT). Methods: The clinical data of two cases of HRRMT diagnosed in Fujian Provincial Hospital and Fujian University of Traditional Chinese Medicine Affiliated People's Hospital from 2020 to 2021 were collected. Histopathology and immunohistochemical (IHC) staining were used to assess morphological changes; the genetic changes were analyzed with next-generation sequencing. The relevant literature was reviewed. Results: Both cases showed well-defined solid nodules and soft masses. Microscopically, the tumors had a fibrous pseudocapsule with lymphocytic aggregation, and locally invaded the surrounding skeletal muscle tissue, and the tumor cells were fusiform to epithelioid with an intensive foamy histiocytic infiltrate. No necrosis or mitosis was observed. Immunophenotyping showed the tumor cells were positive for desmin, either one or both skeletal muscle markers (myogenin or MyoD1), and negative for h-caldesmon, ALK and SMA. The Ki-67 index was<5%. Using next-generation sequencing, one case was found to harbour KRAS (G12D) and MSH3 (Q470*) mutations. Conclusions: HRRMT is a newly described skeletal muscle tumor with uncertain malignant potential. Its diagnosis and differential diagnosis depend on morphologic and IHC staining. No specific molecular genetics changes have been identified so far.


Subject(s)
Humans , Biomarkers, Tumor/analysis , Diagnosis, Differential , Histiocytes/pathology , Molecular Biology , Muscle Neoplasms/pathology , Prognosis
SELECTION OF CITATIONS
SEARCH DETAIL