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1.
Rev. med. cine ; 19(4): 303-316, 11/14/2023. ilus
Artigo em Espanhol | IBECS | ID: ibc-227599

RESUMO

Si bien la hemofilia era conocida como una enfermedad que perturbaba solo a las familias reales de Europa, actualmente afecta a uno de cada 5.000 y a uno de cada 30.000 varones recién nacidos vivos tanto para la de Tipo A como B, respectivamente. La hemofilia es un trastorno de la coagulación sanguínea que afecta principalmente a varones por su carácter de herencia recesiva ligada al X, siendo su manifestación principal las hemorragias que pueden llegar a ser mortales si no son tratadas correctamente. En Bombardier Blood (2020) de Patrick James Lynch, un documental enfocado al recorrido de Chris Bombardier, una persona hemofílica cuyo sueño es escalar las siete cumbres más altas del mundo, incluyendo en su paso el monte Everest en el Himalaya. El documental además de destacar los aspectos médicos sobre esta enfermedad hace ver los diferentes estilos de vida de acuerdo a su localización, las normativas y sistemas de salud que los rige y como esto incide en el diagnóstico, seguimiento y tratamiento. (AU)


While hemophilia was considered a disease that disturbed only the royal families of Europe, it currently affects one in 5.000 and one in 30.000 live newborn males for both Type A and B, respectively. Hemophilia is a blood clotting disorder that mainly affects men due to its character of recessive inheritance linked to X, its main manifestation hemorrhaging that can become fatal if they are not treated correctly. Bombardier Blood (2020) by Patrick James Lynch is a documentary focused on the journey of Chris Bombardier, a hemophilic person whose dream is to climb the seven highest summits in the world, including Mount Everest in the Himalayas. The documentary, in addition to highlighting the medical aspects of this disease, shows the different lifestyles according to their location, the regulations and health systems that govern them, and how these affect diagnosis, monitoring, and treatment. (AU)


Assuntos
Humanos , Hemofilia A/diagnóstico , Hemofilia A/terapia , Doenças Genéticas Inatas/diagnóstico , Doenças Genéticas Inatas/psicologia , Doenças Genéticas Inatas/terapia , Transtornos Herdados da Coagulação Sanguínea/diagnóstico , Transtornos Herdados da Coagulação Sanguínea/terapia , Hereditariedade , Nepal
3.
Rev. med. cine ; 18(1): 15-27, ene.-mar. 2022. ilus
Artigo em Espanhol | IBECS | ID: ibc-210041

RESUMO

Un enfoque cinematográfico sobre la realidad que viven las familias de los niños que padecen enfermedades raras, es lo que vemos en la película «Mi hija, mi vida» ( Tu Vivras ma fille, 2018) de Gabriel Aghion. La primera hija de un matrimonio feliz nace su hija con el Síndrome de Sanfilippo, una patología de carácter genético poco frecuente donde existe un deterioro de las funcionalidades a partir de los 3 años y para la cual no existe un tratamiento efectivo. Está película, basada en hechos de la vida real, nos muestra el esfuerzo que algunas personas son capaces de hacer con la finalidad de encontrar nuevas opciones de tratamiento con la finalidad de mejorar la vida de los seres que amamos, y en esa búsqueda desarrollan un tratamiento basado en los últimos desarrollos de la biotecnología, la terapia génica, que logra la disminución de síntomas o conductas puntuales, propias de la patología. En este artículo hacemos un enfoque de la investigación para la búsqueda de un tratamiento con las nuevas herramientas biotecnológicas existentes, además del impacto social y afectivo, que sufren las personas y familias afectadas por este tipo de enfermedades. (AU)


We can see depicted the reality lived by families of children with rare diseases in the movie "My daughter, my life" (Tu vivras ma fille, 2018) by Gabriel Aghion. The first daughter of a marriage is born with Sanfilippo syndrome, an unusual genetic pathology which affects functionality in children from 3 years up and for which there is no effective treatment. This movie, based on a real life story, that show us the effort of some people in search of new treatment options to improve the life of the loved ones, and in that quest, they have developed a treatment based upon the last biotechnological findings, gene therapy, that decreases symptoms from the pathology itself. In this article we are focusing on the search of a treatment based on the existing biotechnological tools, in addition of the social and affective impact suffered by the people and families living these types of illnesses. (AU)


Assuntos
Humanos , História do Século XXI , Biotecnologia , Mucopolissacaridose III/tratamento farmacológico , Mucopolissacaridose III/história , Filmes Cinematográficos , Doenças Genéticas Inatas , Doenças Raras , Medicina nas Artes
4.
Curr Genomics ; 18(2): 106-131, 2017 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-28367072

RESUMO

Natural compounds from various plants, microorganisms and marine species play an important role in the discovery novel components that can be successfully used in numerous biomedical applications, including anticancer therapeutics. Since uncontrolled and rapid cell division is a hallmark of cancer, unraveling the molecular mechanisms underlying mitosis is key to understanding how various natural compounds might function as inhibitors of cell cycle progression. A number of natural compounds that inhibit the cell cycle arrest have proven effective for killing cancer cells in vitro, in vivo and in clinical settings. Significant advances that have been recently made in the understanding of molecular mechanisms underlying the cell cycle regulation using the chemotherapeutic agents is of great importance for improving the efficacy of targeted therapeutics and overcoming resistance to anticancer drugs, especially of natural origin, which inhibit the activities of cyclins and cyclin-dependent kinases, as well as other proteins and enzymes involved in proper regulation of cell cycle leading to controlled cell proliferation.

5.
Acta bioquím. clín. latinoam ; 50(4): 665-668, dic. 2016. ilus, tab
Artigo em Espanhol | LILACS | ID: biblio-837640

RESUMO

Fueron estudiadas, para la búsqueda de rotavirus, 341 muestras fecales obtenidas de sendos niños menores de cinco años con diarrea aguda, atendidos en dos centros de salud de la ciudad de Loja - Ecuador. De ellas, 56 (16%) fueron positivas para rotavirus, siendo genotipificadas 33 muestras para la determinación de genotipos G y P. Los genotipos más frecuentes fueron G4 (42%), P[6] (36%) y la combinación mixta G4+9P[6] (21%). Este es el primer estudio de carácter molecular en rotavirus realizado en el sur de Ecuador y los datos obtenidos ratifican la variabilidad de cepas de rotavirus circulantes en este país.


A total of 341 fecal samples obtained from children under five years of age with acute diarrhea disease, attending two nursing homes in Loja city, Ecuador were studied for rotavirus diagnosis. Out of them, 56 (16%) were rotavirus positive and 33 samples were genotyped for the determination of genotypes G and P. The most frequent genotypes were G4 (42%), P [6] (36%) and +9 mixed combination G4 P [6] (21%). This is the first molecular study on rotavirus carried out in Southern Ecuador and the obtained data confirms the variability of the rotavirus circulating strains in Ecuador.


Foram estudadas, para a pesquisa de rotavírus, 341 amostras fecais obtidas de igual número de crianças menores de cinco anos, com diarreia aguda, atendidos em dois centros de saúde da cidade de Loja - Equador. Delas, 56 (16%) foram positivas para rotavírus, sendo genotipadas 33 amostras para a determinação de genótipos G e P. Os genótipos mais frequentes foram G4 (42%), P[6] (36%) e a combinação mista G4+9P[6] (21%). Este é o primeiro estudo de caráter molecular em rotavírus realizado no sul do Equador. Os dados obtidos ratificam a variabilidade de cepas de rotavírus circulantes neste país.


Assuntos
Recém-Nascido , Lactente , Pré-Escolar , Disenteria , Equador , Genótipo , Rotavirus , Disenteria/virologia , Mortalidade/tendências , Infecções por Rotavirus/etiologia , Estatística
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