Características moleculares, funciones y mutaciones de los Colágenos tipo I, III y V, de la Tenascina XB, y de la Proteína Similar a la Carboxipeptidasa Aórtica (ACLP), en la matriz extracelular: la relación fenotipo-genotipo en el Síndrome de Ehlers-Danlos Clásico, similar al clásico y vascular. Una Revisión de alcance

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dc.contributor.advisorGarcía Cardona, Ananías
dc.contributor.advisorGaravito Rodríguez, Édgar
dc.contributor.authorRodríguez Hernández, Andrea Esperanza
dc.contributor.orcidANDREA ESPERANZA RODRíGUEZ HERNÁNDEZ [0000000322868516]spa
dc.contributor.researchgroupEvaluacion de Tecnologias y Politicas en Saludspa
dc.date.accessioned2023-08-08T20:53:19Z
dc.date.available2023-08-08T20:53:19Z
dc.date.issued2023
dc.descriptionilustraciones, diagramasspa
dc.description.abstractOBJETIVO: Describir la relación genotipo-fenotipo en el Síndrome de Ehlers-Danlos vascular (vEDS), el Síndrome Ehlers-Danlos Clásico y el Síndrome de Ehlers-Danlos similar al Clásico (clEDS). METODOLOGÍA: Revisión de alcance desarrollada bajo metodología del Instituto Joanna Briggs (The University Adelaide, South Australia). Se consultaron las bases de datos Pubmed, Embase, OVID, LILACS, Cochrane Library y Open Gray. Se incluyeron estudios observacionales descriptivos y analíticos que describieran las manifestaciones clínicas y mutaciones asociadas a síndromes descritos. También se incluyeron artículos de revisión que describieran las características de las proteínas asociadas a los síndromes: vEDS(Colágeno Tipo III), cEDS(Colágenos tipo V y tipo I), clEDS(Tenascina XB y ACLP). Los resultados se exportaron al software Rayyan®, para la tamización de las referencias. Las variables fueron registradas en formato electrónico. Se incluyeron estudios en español, inglés, alemán, francés, italiano y portugués. Se realizó una síntesis narrativa con los estudios seleccionados. RESULTADOS: Se obtuvieron 6.120 referencias, se removieron 1.797 duplicados, las 4.323 referencias restantes fueron tamizadas por título y abstract en el software Rayyan®, teniendo en cuenta criterios de selección previamente definidos. Se obtuvieron 689 referencias para ser revisadas en texto completo y fueron seleccionados 342 artículos para síntesis de evidencia (vEDS: 187, cEDS: 67, clEDS:44, artículos de revisión:44). La relación entre manifestaciones clínicas y tipos de mutación (nonsense, missense, exón skipping, frameshift, etc.) fue descrita para cEDS, clEDS, vEDS. CONCLUSIONES: Existe una mejor relación genotipo-fenotipo para vEDS en comparación con cEDS. Se requieren más estudios para establecer una mejor relación genotipofenotipo en el clEDS. (Texto tomado de la fuente)spa
dc.description.abstractOBJECTIVE: To describe the phenotype-genotype relationship in Vascular Ehlers-Danlos Syndrome(vEDS), Classical Ehlers-Danlos Syndrome(cEDS) and Classical-Like EhlersDanlos Syndrome(clEDS). METHODS: A scoping review was carried out based on the Joanna Briggs Institute Guide. The search was conducted in the Pubmed, Embase, OVID, LILACS, Cochrane Library and Open Gray medical databases. The search included analytical and descriptive observational studies that described the clinical manifestations and associated mutations to the type of EDS. Review articles describing the characteristics of the proteins associated with the syndromes were also included: vEDS:Col III, cEDS:Col I-V, clEDS:TenascinXB and ACLP. The researchers selected the studies using Rayyan® software and extracted data in an electronic format. Studies in English, Spanish, German, French, Italian and Portuguese were included. A narrative synthesis of the findings is made. RESULTS: The literature search in the databases generated a total of 6,120 results, of which 1,797 were duplicates; 4,323 references were obtained to be screened by title and abstract. The screening was carried out using the Rayyan® software, taking into account the previously defined selection criteria, 689 titles were selected to be reviewed in full text, of which 342 studies were selected to carry out the evidence synthesis (vEDS:187, cEDS:67, clEDS:44 and Review articles:44). The correlation of clinical manifestations and type of mutation (nonsense, missense, exon skipping, frameshift, etc.) was performed for cEDS, clEDS and vEDS. CONCLUSIONS: vEDS type allows a better phenotype-genotype correlation compared to cEDS. More studies are required to establish a phenotype-genotype correlation in clEDS.eng
dc.description.degreelevelMaestríaspa
dc.description.degreenameMagíster en Morfología Humanaspa
dc.description.methodsScoping Review (Revisión de Alcance) en la que se utilizó la metodología del Instituto Joanna Briggs JBI (The University Adelaide, South Australia).spa
dc.description.researchareaGenética e Histologíaspa
dc.format.extent177 páginasspa
dc.format.mimetypeapplication/pdfspa
dc.identifier.instnameUniversidad Nacional de Colombiaspa
dc.identifier.reponameRepositorio Institucional Universidad Nacional de Colombiaspa
dc.identifier.repourlhttps://repositorio.unal.edu.co/spa
dc.identifier.urihttps://repositorio.unal.edu.co/handle/unal/84500
dc.language.isospaspa
dc.publisherUniversidad Nacional de Colombiaspa
dc.publisher.branchUniversidad Nacional de Colombia - Sede Bogotáspa
dc.publisher.facultyFacultad de Medicinaspa
dc.publisher.placeBogotá, Colombiaspa
dc.publisher.programBogotá - Medicina - Maestría en Morfología Humanaspa
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dc.rights.accessrightsinfo:eu-repo/semantics/openAccessspa
dc.rights.licenseAtribución-NoComercial-SinDerivadas 4.0 Internacionalspa
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/spa
dc.subject.ddc610 - Medicina y salud::611 - Anatomía humana, citología, histologíaspa
dc.subject.ddc610 - Medicina y salud::616 - Enfermedadesspa
dc.subject.ddc610 - Medicina y salud::618 - Ginecología, obstetricia, pediatría, geriatríaspa
dc.subject.ddc570 - Biología::576 - Genética y evoluciónspa
dc.subject.lembGENOTIPOS
dc.subject.lembGenotypes
dc.subject.lembFENOTIPOS
dc.subject.lembPhenotype
dc.subject.lembSINDROME DE EHLERS-DANLOS
dc.subject.lembEhlers-Danlos syndrome
dc.subject.proposalCollagen Type Veng
dc.subject.proposalCollagen Type IIIeng
dc.subject.proposalCollagen Type Ieng
dc.subject.proposalEhlers-Danlos Syndromeeng
dc.subject.proposaltenascin-X deficiencyeng
dc.subject.proposalAEBP1 proteineng
dc.subject.proposalColágeno Tipo Ispa
dc.subject.proposalColágeno Tipo IIIspa
dc.subject.proposalColágeno Tipo Vspa
dc.subject.proposalSíndrome de Ehlers-Danlosspa
dc.subject.proposalTenascina XBspa
dc.subject.proposalProteína del gen AEBP1spa
dc.titleCaracterísticas moleculares, funciones y mutaciones de los Colágenos tipo I, III y V, de la Tenascina XB, y de la Proteína Similar a la Carboxipeptidasa Aórtica (ACLP), en la matriz extracelular: la relación fenotipo-genotipo en el Síndrome de Ehlers-Danlos Clásico, similar al clásico y vascular. Una Revisión de alcancespa
dc.title.translatedMolecular characteristics, functions and mutations of type I, III and V Collagens, Tenascin XB, and Aortic Carboxypeptidase-like Protein (ACLP) in the extracellular matrix: the phenotype-genotype relationship in Classical Ehlers-Danlos Syndrome, Classical-like Ehlers-Danlos Syndrome and Vascular Ehlers-Danlos Syndrome. A scoping revieweng
dc.typeTrabajo de grado - Maestríaspa
dc.type.coarhttp://purl.org/coar/resource_type/c_bdccspa
dc.type.coarversionhttp://purl.org/coar/version/c_ab4af688f83e57aaspa
dc.type.contentTextspa
dc.type.driverinfo:eu-repo/semantics/masterThesisspa
dc.type.redcolhttp://purl.org/redcol/resource_type/TMspa
dc.type.versioninfo:eu-repo/semantics/acceptedVersionspa
dcterms.audience.professionaldevelopmentInvestigadoresspa
oaire.accessrightshttp://purl.org/coar/access_right/c_abf2spa

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