Richard Baquero Rodriguez, Ana Katherina Serrano Gayubo, Juan Carlos Prieto Rivera, Juan Guillermo Cardenas Aguilera, Carmen Inés Rodríguez Cuéllar, Maria Fernanda Reina Ávila, Mayra Alexandra Estévez Capacho, Heidy Mateus, Maylin Valencia González, Kelly Rocío Chacón Acevedo, Maria Paula Gutiérrez Sepúlveda, Dominique P Germain, Juan Politei, Alejandro Fabian Fainboim, Magdalena Cerón Rodríguez, Gustavo Cabrera, Edicson Rodríguez Ibarra, Martha Isabel Carrascal Guzmán, Lida Esperanza Martínez Cáceres, Sandra Yaneth Ospina Lagos, Hernán Trimarchi, Miguel Liern
{"title":"Consenso colombiano de expertos sobre recomendaciones basadas en evidencia para el diagnóstico, tratamiento y seguimiento de enfermedad de Fabry en pediatría","authors":"Richard Baquero Rodriguez, Ana Katherina Serrano Gayubo, Juan Carlos Prieto Rivera, Juan Guillermo Cardenas Aguilera, Carmen Inés Rodríguez Cuéllar, Maria Fernanda Reina Ávila, Mayra Alexandra Estévez Capacho, Heidy Mateus, Maylin Valencia González, Kelly Rocío Chacón Acevedo, Maria Paula Gutiérrez Sepúlveda, Dominique P Germain, Juan Politei, Alejandro Fabian Fainboim, Magdalena Cerón Rodríguez, Gustavo Cabrera, Edicson Rodríguez Ibarra, Martha Isabel Carrascal Guzmán, Lida Esperanza Martínez Cáceres, Sandra Yaneth Ospina Lagos, Hernán Trimarchi, Miguel Liern","doi":"10.12804/revistas.urosario.edu.co/revsalud/a.12504","DOIUrl":"https://doi.org/10.12804/revistas.urosario.edu.co/revsalud/a.12504","url":null,"abstract":"Antecedentes: La enfermedad de Fabry (EF) es una enfermedad rara ligada a X secundaria al depósito lisosomal de glicoesfingolípidos debido a la deficiencia de la enzima alfa galactosidasa A (α-Gal A). A pesar de su baja frecuencia, es una condición que afecta la calidad de vida de los pacientes y disminuye su esperanza de vida.
 Objetivo: Generar recomendaciones informadas en evidencia para el diagnóstico y tratamiento de pacientes pediátricos (menores de 8 años) con EF.
 Métodos: Se realizó una revisión de literatura en bases de datos y literatura gris a partir del 2010, incluyendo guías de práctica clínica, revisiones sistemáticas, estudios primarios. La calidad de evidencia se evalúo de acuerdo con el tipo de evidencia. Las recomendaciones se sometieron a consenso de expertos a través de metodología Delphi modificada. El acuerdo se definió a partir del 80%.
 Resultados: A partir del análisis de la evidencia recolectada, se formularon un total de 45 recomendaciones para tamización, diagnóstico y tratamiento de paciente pediátrico con enfermedad de Fabry. El panel revisor estuvo conformado por once expertos en el tema. Las recomendaciones fueron aprobadas con puntuaciones entre 82.3% y 100%.
 Conclusiones: Las recomendaciones resultantes del consenso de expertos permitirán la toma de decisiones clínicas y estandarización de la práctica en la atención de pacientes pediátricos con EF a nivel nacional y regional; el diagnóstico temprano y oportuno garantiza una disminución del impacto en la calidad de vida de los pacientes y sus familiares.
 Palabras clave: Enfermedad de Fabry, niños, diagnóstico, terapeutica, biomarcadores","PeriodicalId":21189,"journal":{"name":"Revista Ciencias de la Salud","volume":"12 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136214054","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Explorando el discurso de enfermos crónicos sobre la legalización de la muerte médicamente asistida","authors":"Norma Alicia Ordóñez Vázquez","doi":"10.12804/revistas.urosario.edu.co/revsalud/a.12112","DOIUrl":"https://doi.org/10.12804/revistas.urosario.edu.co/revsalud/a.12112","url":null,"abstract":"Introducción: Las enfermedades crónicas van en aumento, y conllevan múltiples consecuencias que en un determinado momento, con el paso de los años, puede llegar a un estado terminal de la enfermedad. Es importante conocer la visión de estos enfermos sobre la muerte médicamente asistida. 
 Objetivo: Conocer y analizar el discurso de enfermos crónicos sobre la muerte digna, la eutanasia y el suicidio médicamente asistido para visibilizar la necesidad de la regulación de la muerte digna.
 Método: Se realizó una investigación cualitativa que se inserta dentro del paradigma del construccionismo social. Se llevaron a cabo entrevistas utilizando una guía semiestructurada. Se utilizó el análisis del discurso para encontrar convergencias y diferencias en los discursos.
 Resultados: Se entrevistaron siete participantes que padecen una enfermedad crónica. Los discursos convergen hacia una muerte digna sin dolor, sufrimiento, tranquila y en casa. Coinciden sus discursos en legalizar la eutanasia y el suicidio médicamente asistido; sin embargo, algunas difieren en cuanto a solicitarlas. Las experiencias previas de muerte de sus seres queridos es un factor que influye para desear una muerte digna. 
 Discusión y conclusiones: La experiencia de la enfermedad crónica es un factor importante para aceptar en un futuro la muerte médicamente asistida, si ser una carga para otros y evitar el dolor y sufrimiento al final de la vida. La religión influye en las decisiones, pero se puede observar una mayor apertura para aceptar la legalización de la muerte médicamente asistida.
 Palabras clave: enfermedad crónica, muerte digna, eutanasia, suicidio médicamente asistido, análisis del discurso.","PeriodicalId":21189,"journal":{"name":"Revista Ciencias de la Salud","volume":"74 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135552413","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Veline Martinez, Esteban Echeverri, Maria Alejandra Urbano, Laura Juliana Ballen, Guillermo Edinson Guzman
{"title":"Hemorrhagic Cerebrovascular Disease","authors":"Veline Martinez, Esteban Echeverri, Maria Alejandra Urbano, Laura Juliana Ballen, Guillermo Edinson Guzman","doi":"10.12804/revistas.urosario.edu.co/revsalud/a.12671","DOIUrl":"https://doi.org/10.12804/revistas.urosario.edu.co/revsalud/a.12671","url":null,"abstract":"Introduction: Stroke is a major cause of morbidity and mortality worldwide, with hemorrhagic stroke being the deadliest form of acute stroke. Therefore, the cause of the event should be determined to direct the associated therapy and take preventive measures. Hyperhomocysteinemia has been described as a rare etiology of stroke. Although hyperhomocysteinemia has been associated with venous thrombotic events, altered endothelial function, and procoagulant states, its clinical role in stroke remains controversial. Case description: We present a case of a 60-year-old male patient with primary autoimmune hypothyroidism who presented with dysarthria, facial paresis, and left upper-limb monoparesis after sexual intercourse. A simple skull computed tomography scan showed hyperintensity in the right basal ganglion, indicating an acute hemorrhagic event. Etiological studies were performed, including ambulatory blood pressure monitoring, cerebral angiography, and transthoracic echocardiogram, which ruled out underlying vascular pathology. During follow-up, vitamin B12 deficiency and hyperhomocysteinemia were detected, without other blood biochemical profile alterations. Supplementation was initiated, and homocysteine levels gradually decreased, without new neurological deficits observed during follow-up. Conclusion: Quantification of homocysteine should be considered in patients with a cerebrovascular disease without apparent cause, as documenting hyperhomocysteinemia and correcting its underlying etiology are essential not only for providing appropriate management but also for preventing future events.","PeriodicalId":21189,"journal":{"name":"Revista Ciencias de la Salud","volume":"70 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135552627","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Presentación del número especial de RIECS 2023","authors":"Gabriel De Arriba de la Fuente","doi":"10.37536/riecs.2023.8.s1.390","DOIUrl":"https://doi.org/10.37536/riecs.2023.8.s1.390","url":null,"abstract":"","PeriodicalId":21189,"journal":{"name":"Revista Ciencias de la Salud","volume":"150 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135368773","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Trabajos Fin de Grado/Máster de Medicina G215 (2022/23) de la Universidad de Alcalá","authors":"None Estudiantes y Tutores de Grado en Medicina","doi":"10.37536/riecs.2023.8.s1.385","DOIUrl":"https://doi.org/10.37536/riecs.2023.8.s1.385","url":null,"abstract":"","PeriodicalId":21189,"journal":{"name":"Revista Ciencias de la Salud","volume":"24 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136342194","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Trabajos Fin de Grado de Enfermería, Guadalajara (2022/23) de la Universidad de Alcalá","authors":"None Estudiantes y Tutores de Grado en Enfermería","doi":"10.37536/riecs.2023.8.s1.388","DOIUrl":"https://doi.org/10.37536/riecs.2023.8.s1.388","url":null,"abstract":"","PeriodicalId":21189,"journal":{"name":"Revista Ciencias de la Salud","volume":"44 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136342195","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Trabajos Fin de Grado/Máster de Medicina G216, CUD/UAH (2022/23)","authors":"None Estudiantes y Tutores de Grado en Medicina","doi":"10.37536/riecs.2023.8.s1.386","DOIUrl":"https://doi.org/10.37536/riecs.2023.8.s1.386","url":null,"abstract":"","PeriodicalId":21189,"journal":{"name":"Revista Ciencias de la Salud","volume":"2013 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136279431","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
None Estudiantes y Tutores de Grado en Fisioterapia
{"title":"Trabajos Fin de Grado de Fisioterapia (2022/23) de la Universidad de Alcalá","authors":"None Estudiantes y Tutores de Grado en Fisioterapia","doi":"10.37536/riecs.2023.8.s1.389","DOIUrl":"https://doi.org/10.37536/riecs.2023.8.s1.389","url":null,"abstract":"","PeriodicalId":21189,"journal":{"name":"Revista Ciencias de la Salud","volume":"67 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136280083","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Trabajos Fin de Grado de Enfermería, G209 (2022/23) de la Universidad de Alcalá","authors":"None Estudiantes y Tutores de Grado en Enfermería","doi":"10.37536/riecs.2023.8.s1.387","DOIUrl":"https://doi.org/10.37536/riecs.2023.8.s1.387","url":null,"abstract":"","PeriodicalId":21189,"journal":{"name":"Revista Ciencias de la Salud","volume":"160 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136280251","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Trabajos Fin de Grado de Ciencias de la Actividad Física y el Deporte (2022/23) de la Universidad de Alcalá","authors":"None Estudiantes y Tutores de Grado en CCAFYDE","doi":"10.37536/riecs.2023.8.s1.384","DOIUrl":"https://doi.org/10.37536/riecs.2023.8.s1.384","url":null,"abstract":"","PeriodicalId":21189,"journal":{"name":"Revista Ciencias de la Salud","volume":"62 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136341320","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}