Evaluación del curso virtual de Genética Humana en estudiantes universitarios de ciencias de la salud / Evaluation of the Human Genetics virtual course by university health sciences students

Introducción: Los entornos de aprendizaje en línea ofrecen nuevas formas de comunicación que permiten a docentes y estudiantes intercambiar información, conocimientos e ideas, tanto en espacios asincrónicos como en tiempo real. En esta modalidad se desarrolló un curso electivo de Genética Humana para complementar la formación de estudiantes de pregrado del área de la salud. Objetivo: Evaluar la satisfacción con el uso y la percepción del trabajo en una asignatura virtual de Genética Humana en estudiantes universitarios pertenecientes a carreras del área de la salud de la Universidad de Concepción. Métodos: Estudio de tipo cuantitativo, no experimental y transversal. Mediante una encuesta de preguntas cerradas y abiertas, se determinó el grado de satisfacción de los estudiantes con respecto a los aspectos pedagógicos, tecnológicos y el ambiente virtual de aprendizaje. Resultados: Los estudiantes evaluaron en forma satisfactoria el curso virtual. En cuanto a la percepción del ambiente virtual, las opiniones positivas estuvieron centradas en la autonomía (40 por ciento) y en la experiencia de aprendizaje (38 por ciento). Los aspectos negativos se enfocaron en la responsabilidad hacia el aprendizaje (75 por ciento) y la relación con el docente (25 por ciento). Conclusiones: El curso virtual es útil para el aprendizaje de la Genética Humana, y constituye un espacio que favorece la adquisición de conocimientos y el desarrollo de competencias como la autonomía y el trabajo en equipo(AU)

Introduction: Online learning environments offer new forms of communication allowing teachers and students to exchange information, knowledge and ideas, either asynchronously or in real time. An elective Human Genetics course was taught online to complement the training of undergraduate health sciences students. Objective: Evaluate the satisfaction with and perception of the work done in a virtual Human Genetics course taught to university health sciences students from the University of Concepción. Methods: A quantitative cross-sectional non-experimental study was conducted. A survey containing open-ended and closed-ended questions was used to determine the students' level of satisfaction with pedagogical and technological aspects of the course, and with the virtual learning environment. Results: Students ranked the virtual course as satisfactory. Concerning perception of the virtual environment, positive opinions referred to the students' autonomy (40 percent) and the learning experience itself (38 percent). Negative opinions focused on the students' responsibility towards learning (75 percent) and their relationship to the teacher (25 percent). Conclusions: The virtual course proved to be useful to learn about Human Genetics, as well as an environment fostering the acquisition of knowledge and the development of competences such as autonomy and team work(AU)

Epigenética y ontogenia humana, baluarte inestimable en la promoción de salud y prevención de enfermedad / Epigenetics and human ontogeny, invaluable bulkward in health promotion and disease prevention

RESUMEN La ontogenia humana está basada en fundamentos genéticos y epigenéticos. Con el objetivo de estructurar los referentes teóricos sobre el papel relevante de la epigenética en la ontogenianormal y defectuosa que contribuyan a la promoción de salud y prevención de enfermedad, se realizó la revisión de 37 referencias bibliográficas. La epigenética es el conjunto de procesos químicos dependientes del ambiente que modifican la expresión del ácido desoxirribonucleico, sin alterar su secuencia. Su acción está presente durante toda la vida, especialmente en la prenatal cuando, por modificaciones ambientales intraútero ocurre la programación epigenética que hace al humano susceptible a defectos en la ontogenia, incluso a padecer ulteriormente de enfermedades crónicas no transmisibles. Se han reportado factores ambientales inductores de marcas epigenéticas, entre ellos: alimentación, hábitos tóxicos, estrés, consumo inadecuado de ácido fólico y técnicas de reproducción asistida, todos modificables; su conocimiento constituye un baluarte inestimable en la promoción de salud y prevención de enfermedad.

ABSTRACT Human ontogeny is based in genetic and epigenetic fundaments. 37 bibliographic references were reviewed with the objective of structuring the theoretical referents on the relevant role of epigenetics in normal and defective ontogeny to contribute to health promotion and disease prevention. Epigenetics is the whole of chemical processes depending from the environment that modify the deoxyribonucleic acid expression without modifying its sequence. Its action is present during all lifetime, especially at pre-natal times; when due to intrauterine environmental modifications the epigenetic programming takes place, making humans susceptible to defects in ontogeny, even to subsequently suffer non-communicable chronic diseases. Environmental factors inducing epigenetic marks have been reported: food, toxic habits, stress, folic acid inadequate intake and assisted reproduction techniques, all modifiable. Its knowledge is an invaluable bulkward in health promotion and disease prevention.

Karyotyping and population genetics in Cold War Mexico: Armendares's and Lisker's characterization of child and indigenous populations, 1960s-1980s / Cariotipia e genética de populações no México da Guerra Fria: as caracterizações de Armendares e Lisker sobre as populações infantil e indígena, 1960-1980

Abstract This paper focuses on geneticists Salvador Armendares's and Rubén Lisker's studies from the 1960s to the 1980s, to explore how their work fits into the post-1945 human biological studies, and also how the populations they studied, child and indigenous, can be considered laboratories of knowledge production. This paper describes how populations were considered for different purposes: scientific inquiry, standardization of medical practices, and production or application of medicines. Through the narrative of the different trajectories and collaborations between Armendares and Lisker, this paper also attempts to show the contact of their scientific practices, which brought cytogenetics and population genetics together at the local and global levels from a transnational perspective.

Resumo Aborda o trabalho dos geneticistas Salvador Armendares e Rubén Lisker, entre 1960 e 1980, para analisar como se insere nos estudos biológicos humanos do pós-1945, e demonstra como as populações estudadas por eles, a infantil e a indígena, podem ser consideradas laboratórios de produção de conhecimento. O artigo revela como as populações foram consideradas para diversos propósitos: investigação científica, padronização das práticas médicas e produção ou aplicação de suas medicinas. Por meio da narrativa das diferentes trajetórias e colaborações entre Armendares e Lisker, também procura discutir o contato de suas práticas científicas, que colocaram a citogenética e a genética de populações lado a lado nos níveis local e global a partir de uma perspectiva transnacional.

O processo e a prática do aconselhamento genético no Brasil: uma revisão de escopo / The process and practice of genetic counseling in Brazil: a scope review

Nessa dissertação foi realizada uma scoping review (SR) com objetivo de buscar na literatura o que existe, até o presente momento, para verificar as principais evidências científicas referentes ao processo e à prática do aconselhamento genético (AG) no Brasil. O método apresentado nessa revisão, scoping review, é utilizado para investigar conceitos-chave subjacentes a uma nova área de pesquisa, explorar de forma sistematizada os conceitos, teorias, evidências e lacunas referentes a um tema específico. O estudo propôs como questão de pesquisa: "Quais são as evidências científicas referentes ao processo e à prática do AG no Brasil?" Os descritores e palavras-chave prioritariamente utilizados para realizar a busca nas bases de dados foram: genetic counseling OR genetic service, Latin America OR South America OR Brazil OR Brazilian. Após utilizar a estratégia de busca, específica para cada uma das seis bases de dados (PubMed, EMBASE, SCOPUS e Web of Science, CINAHL e LILACS), foram encontrados 1028 artigos, os quais foram exportados para o software Rayyan QCRI e removidos aqueles que se encontravam em duplicata. Foram excluídos artigos em duplicata entre as bases supracitadas; trabalhos que se referiam a modelos animais, relatos de casos, editoriais, cartas, revisões de literatura, resumos e dissertações e teses; literatura cinzenta; e que não haviam sido produzidos no Brasil. Por meio desse software, dois revisores executaram, de forma independente, a leitura dos títulos e resumos de 609 artigos e 62 foram selecionados para a leitura na íntegra. Dentre esses últimos, apenas 25 de fato respondiam à questão de pesquisa. De acordo com os estudos que compuseram a amostra final desta revisão, percebe-se que ainda não há um consenso sobre os modelos de prática de AG utilizados no Brasil e nem clareza sobre as ações que compôem o processo de aconselhamento. O AG, marjoritariamente é realizado por médicos, embora esteja evidenciado na literatura a importância da equipe multiprofissional. Vale salientar, que se trata de uma área de estudo em ascenção, pois possui uma grande demanda e apresenta um número de publicações crescente a cada ano

In the present dissertation, the author carries out a scoping review (SR) to analyse the main scientific evidences concerning the process and the practice of Genetic Counselling (GR) in Brazil. The scoping review method is used to investigate key-concepts present in a new area of research and to explore, in a systematized way, the concepts, theories, evidences and omissions regarding a specific subject. This study proposes as its subject of research the following question: "what are the scientific evidences regarding the process and the practice of GR in Brazil?". The descriptors and key-words primarily used in the research in databases were: genetic counselling OR genetic service, Latin America OR South America OR Brazil OR Brazilian. Research strategies tailored to each one of the six databases (PubMed, EMBASE, SCOPUS, y Web of Science, CINAHL y LILACS) led to 1028 articles, which were exported to the Rayyan QCRI software. Articles that were published in more than on database, works regarding animal models, case reports, editorials, letters, literature reviews, summaries, dissertations, theses, grey literature, and works that were not published in Brazil were all excluded. Making use of this software, two independent reviewers read the titles and summaries of 609 articles, from among which 62 were selected to be fully read. Only 25 of these 62 articles effectively answered the question proposed in the dissertation. The studies present in the final sample of this revision show that there is not a consensus regarding the models of practice of GR used in Brazil, as well as that there is a lack of clarity concerning the actions that are part of the counselling process. RG is mainly performed by doctors, in spite of the fact that the specialized literature shows the importance of multiprofessional teams. It is important to highlight the importance of this area of research, as shown by an increasing demand and by a growing number of studies published every year

El viroma humano. Implicaciones en la salud y enfermedad / The human virome. Its implications in health and disease

Introducción: El viroma humano se refiere al conjunto de todos los virus encontrados en el organismo humano. La diversidad viral del organismo humano bajo condiciones no patológicas ha sido subestimada. Se estima que hay 100 veces más virus en el cuerpo humano que células eucariotas. Objetivo: Realizar una revisión sistemática sobre las implicaciones del viroma humano para la salud y la enfermedad. Material y Métodos: Se realizó una revisión de artículos científicos publicados entre 2012 y 2017 en diversas bases de datos en línea. Se utilizaron en total 26 fuentes bibliográficas, incluidos artículos originales y revisiones. Desarrollo: Se presenta el conocimiento existente hasta el momento sobre las comunidades virales encontradas en diferentes sitios anatómicos como el sistema digestivo, respiratorio, genitourinario y sangre, los bacteriófagos y los Anellovirus son los virus más frecuentemente detectados. Si bien se hace evidente que el viroma tiene un papel tanto en el mantenimiento de la salud como en la enfermedad, estos mecanismos aún no se han esclarecido. Conclusiones: El organismo humano tiene una alta diversidad viral incluso bajo condiciones no patológicas. Aunque mucho se desconoce aún sobre las implicaciones del viroma, los avances en este campo abren nuevas perspectivas en la biomedicina(AU)

Introduction: The human virome refers to the collection of all viruses found in the human body. The viral diversity of the human body under non-pathological conditions has been underestimated. It is estimated that there are 100 times more viruses in the human body than eukaryotic cells. Objective: To carry out a systematic review of the human virome and its implications in health and disease. Materials and Methods: A review of scientific papers published between 2012 and 2017 in different online databases was made. A total of 26 bibliographic sources were used, including both original articles and reviews. Development: We present the existing knowledge to date about the viral communities found in different anatomical sites such as the digestive, respiratory, and genitourinary systems and the bloodstream; being the bacteriophages and Anellovirus the most frequently detected viruses. Although it is clear that the human virome plays a role both in maintaining health and in disease, these mechanisms have not yet been clarified. Conclusions: The human body has a high viral diversity even under non-pathological conditions. Although much is still unknown about the implications of these viruses on health and disease, advances in this field open new perspectives in the world of biomedicine(AU)

Description of a novel variant in the MAMLD1 gene in isolated hypospadias / Descripción de una nueva variante del gen MAMLD1 en hipospadias aislado

Introduction Hypospadias is a multifactorial malformation. Among previously described genes, the MAMLD1 has recently been identified in association with the development of hypospadias. So far, there are no studies in Latin America addressing this gene. The aim of this paper is to describe the presence of variants in exon 3 of the MAMLD1 in our population. Materials and Methods Using the Bio-Repository's database of the Human Genetics Institute, we identified 51 patients between 2008 and 2012 with varying degrees of isolated hypospadias. Exon 3 was sequenced looking for polymorphisms. These were assessed with in silico prediction algorithms to describe the effect of these changes on the function and structure of the protein. Results Four patients with 3 variants were identified. The p.S364P variant has not been previously described and has a deleterious effect. The other two, rs41313406 and rs61740566, have been previously described and are not considered variations with harmful effect on the protein function. The genotype-phenotype correlation varies in severity between the variables described. Conclusions For the first time a Latin American population is molecularly analyzed. The p.S364P variation has never been described before. Variations with different degrees of hypospadias are described.

Introducción El hipospadias es una malformación multifactorial. Dentro de los genes asociados descritos, el MAMLD1 se ha identificado recientemente como asociado al desarrollo de esta enfermedad. Hasta el momento no hay estudios en Latinoamérica sobre este gen. El objetivo del presente trabajo es describir la presencia de variantes en el exón 3 del MAMLD1 en nuestra población. Material and Métodos Basados en los registros del Biorrepositorio del Instituto de Genética Humana, se identificaron 51 pacientes entre el año 2008 y el 2012 con diferentes grados de hipospadias aislado. A estos se les realizó la secuenciación del exón 3. Los polimorfismos identificados fueron evaluados con algoritmos de predicción in silico para evaluar el efecto de estos cambios sobre la función y estructura de la proteína. Resultados Se encontraron 4 pacientes con 3 variantes. La variante p.S364P no ha sido descrita previamente y tiene un efecto deletéreo. Las otras 2, rs41313406 y rs61740566, han sido descritas previamente y no se consideran variaciones con potencial de efecto deletéreo sobre la función de la proteína. La correlación fenotipo-genotipo varía en severidad entre las variables descritas. Conclusiones Por primera vez se analiza molecularmente una población latinoamericana, encontrando la variante p.S364P no descrita previamente, y 2 variantes ya descritas previamente.

Laços de sangue: hereditariedade e coprodução das ordens social e natural no século XIX / Blood ties: heredity and coproduction of social and natural orders in the 19th century

Resumo: O presente artigo, baseado em revisão bibliográfica, busca estabelecer relações entre o discurso científico acerca da hereditariedade, surgido no século XIX, e um mito, que fornecerá à burguesia pós-revolucionária de então uma oportuna arma simbólica, que conciliará a noção de justiça com a admissão do caráter natural da desigualdade social. Moldando-se à perfeição ao mito do Gênesis, a Genética, inscrevendo as diferenças em uma espécie de justiça natural, desempenhará este papel. Desta forma, vê-se como uma teoria científica se apresenta como sublimação dos fantasmas de uma sociedade. Mas se a ciência os veste, a ficção os irá despir. Por esta razão, Émile Zola, cujos romances aprofundam a dimensão mítica dos enunciados da ciência, terá aqui uma de suas obras analisadas. O resultado é que algo vem à luz que, de outro modo, permaneceria oculto, sob a máscara transparente da Ciência. Dito de outra forma, o seu impensado, aquilo que ela não se atreveria a verbalizar: a noção de que a falta pesa.

Abstract: This article, based on a bibliographical review, seeks to establish relations between the scientific discourse on heredity, which emerged in the 19th century, and a myth, which will provide the post-revolutionary bourgeoisie with an opportune symbolic weapon that will reconcile the notion of justice with the admission of the natural character of social inequality. Shaping itself perfectly to the myth of Genesis, Genetics, inscribing differences into a kind of natural justice, will play this role. So it is seen as a scientific theory presents itself as sublimation of the phantoms of a society. But if science wears them, fiction will undress them. For this reason, Émile Zola, whose novels deepen the mythical dimension of the statements of science, will have here one of his works analyzed. The result is that something comes to light that would otherwise remain hidden under the transparent mask of Science. Put another way, its unthinking, what it would not dare to verbalize: the notion that lack weighs.

História da genética no Brasil: um olhar a partir do Museu da Genética da Universidade Federal do Rio Grande do Sul / History of genetics in Brazil: a view from the Museu da Genética at the Universidade Federal do Rio Grande do Sul

Aborda o contexto de criação do Museu da Genética, em 2011 no Departamento de Genética na Universidade Federal do Rio Grande do Sul, em Porto Alegre, e apresenta sua estrutura e conteúdo. Argumenta-se que os materiais disponibilizados no Museu da Genética constituem uma rica fonte para pesquisas sobre a história da genética no Brasil (e da genética de populações humanas em particular) a partir da segunda metade do século XX, tema ainda pouco investigado, apesar da proeminência dessa área do conhecimento no Brasil.

This work addresses the context of the creation, as well as the structure and contents, of the Museum of Genetics (Museu da Genética), created in 2011 and located in the Department of Genetics of the Federal University of Rio Grande do Sul (Universidade Federal do Rio Grande do Sul), in Porto Alegre, Brazil. The materials available at the Museum of Genetics are a rich resource for research on the history of genetics in Brazil (and especially the genetics of human populations) beginning with the second half of the twentieth century. Despite the prominence of the field of genetics in Brazil, little research has been done on this topic.

Genómica funcional y medicina molecular del siglo XXI / Functional genomics and molecular medicine in the 21st century

Durante la última década del siglo pasado, en decenas de laboratorios de investigación científica, se desarrolló en una aparente calma la carrera que condujo al inicio de una nueva era de la investigación biomédica y de la medicina molecular. Lo cierto es que prestigiosos científicos, como James Watson, descubridor de la estructura del ADN y ganador del premio Nobel de Medicina en 1962, o Craig Venter, un excéntrico investigador disidente de la academia, protagonizaban una frenética competencia. Estos y otros genios-orates trabajaban por un mismo objetivo: la descripción del primer genoma humano (GH). Entre el 2000 y 2001, luego de años de trabajo y de un emocionante photofinish científico, finalmente se reportó la información correspondiente al patrimonio genético de la especie hu-mana. Diez años han transcurrido desde entonces y poco o nada se habla en los medios clínicos y académicos del país sobre el alcance de estas investigaciones y sobre la evolución de sus aplicaciones. ¿Qué representa para la comunidad médica y científica, para los pacientes y para la población sana la información contenida en el GH?

During the last decade of the last century, in dozens of scientific research laboratories, the race that led to the beginning of a new era of biomedical research and molecular medicine developed in apparent calm. The truth is that prestigious scientists, such as James Watson, discoverer of the structure of DNA and winner of the Nobel Prize for Medicine in 1962, or Craig Venter, an eccentric researcher who dissented from academia, were engaged in a frenetic competition. These and other genius-orates were working towards the same goal: the description of the first human genome (HG). Between 2000 and 2001, after years of work and an exciting scientific photofinish, the information corresponding to the genetic heritage of the human species was finally reported. Ten years have passed since then and little or nothing is said in the country's clinical and academic circles about the scope of this research and the evolution of its applications. What does the information contained in the GH represent for the medical and scientific community, for patients and for the healthy population?