Caracterización de pacientes con polineuropatía amiloidótica hereditaria por transtiretina, usando la prueba cuantitativa sensitiva en un centro de investigación electrofisiológica en la ciudad de Bogotá

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dc.contributor.advisorRuiz Ospina, Edicson
dc.contributor.authorLasso Benavides, Jairo Fernando
dc.contributor.researchgroupCIFEL (Centro de Investigación en Fisiatría y Electrodiagnóstico)spa
dc.coverage.cityBogotá - Colombia
dc.date.accessioned2023-02-02T16:33:41Z
dc.date.available2023-02-02T16:33:41Z
dc.date.issued2023-02-01
dc.descriptionilustracionesspa
dc.description.abstractCaracterización de Pacientes con Polineuropatía Amiloidótica Hereditaria por Transtiretina, Usando la Prueba Cuantitativa Sensitiva en un Centro de Investigación Electrofisiológica en la Ciudad de Bogotá Introducción: La amiloidosis hereditaria por transtiretina (hATTR) es una condición genética rara caracterizada por la polineuropatía de fibra pequeña, que causa síntomas como dolor neuropático y disautonomías. Metodología: Investigación retrospectiva de casos que examina la correlación entre la variante genética de la hATTR, los umbrales de la prueba cuantitativa sensitiva, los puntajes de las escalas Norfolk QOL y COMPASS 31. Se recolectaron datos de pacientes en el centro de investigación en fisiatría y electrodiagnóstico (CIFEL) en la ciudad de Bogotá y se realizó un análisis estadístico no paramétrico de Spearman. Resultados: 11 pacientes con polineuropatía amiloidótica hereditaria por transtiretina (hATTR-PN) en Colombia mostraron que la variante genética más frecuente fue ATTRVal142Ile, se encontraron alteraciones del QST en 5 pacientes, síntomas disautonómicos en el 90,6% y compromiso cardiaco en el 72,9%. Se encontraron correlaciones significativas entre las escalas de valoración y los umbrales del QST. Discusión: El perfil clínico en el país coincide con la literatura mundial. Altos puntajes en la escalas de valoración asocian alteraciones en el QST. Conclusión: Existe un incremento en la prevalencia de ATTR en Colombia, con la evidencia de correlaciones estadísticamente significativas entre las escalas Norfolk y COMPASS 31 y los umbrales del QST. La prueba cuantitativa sensitiva se ha demostrado como un método útil para el diagnóstico, seguimiento y monitoreo de esta neuropatía. Palabras clave: Polineuropatía amiloidótica hereditaria por transtiretina, Prueba cuantitativa sensitiva, Fibra pequeña (Texto tomado de la fuente)spa
dc.description.abstractCharacterization of Patients with Hereditary Transthyretin Amyloid Polyneuropathy Using Quantitative Sensory Testing at an Electrophysiological Research Center in Bogotá Introduction: Hereditary transthyretin amyloidosis (hATTR) is a rare genetic condition characterized by small-fiber polyneuropathy, causing symptoms such as neuropathic pain and dysautonomias. Methodology: Retrospective case study examining the correlation between hATTR genetic variant, quantitative sensory testing thresholds, Norfolk QOL scale scores and COMPASS 31 scores. Data was collected from patients at the Center for Research in Physical Medicine and Electrodiagnosis (CIFEL) in the city of Bogota and a non-parametric Spearman statistical analysis was performed. Results: 11 patients with hereditary amyloidotic polyneuropathy due to transthyretin (hATTR-PN) in Colombia showed that the most frequent genetic variant was ATTRVal142Ile, QST alterations were found in 5 patients, autonomic symptoms in 90.6% and cardiac involvement in 72.9%. Significant correlations were found between the assessment scales and the QST thresholds. Discussion: The clinical profile in the country coincides with the world literature. High scores on the assessment scales associate with changes in the QST. Conclusion: There is an increase in the prevalence of ATTR in Colombia, with evidence of statistically significant correlations between the Norfolk and COMPASS 31 scales and the QST thresholds. Quantitative sensory testing has been shown to be a useful method for the diagnosis, monitoring, and monitoring of this neuropathy. Keywords: Hereditary transthyretin amyloid polyneuropathy, Quantitative Sensory Testing, Small Fiber  eng
dc.description.degreelevelEspecialidades Médicasspa
dc.description.degreenameEspecialista en Medicina Física y Rehabilitaciónspa
dc.description.researchareaEstudio electrofisiológico de fibra pequeñaspa
dc.format.extentxv, 98 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/83246
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 - Especialidad en Medicina Física y Rehabilitaciónspa
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dc.subject.decsDiagnosisspa
dc.subject.decsDiagnósticospa
dc.subject.decsAmiloidosisspa
dc.subject.lembAmyloidosiseng
dc.subject.proposalPolineuropatía amiloidótica hereditaria por transtiretinaspa
dc.subject.proposalPrueba cuantitativa sensitivaspa
dc.subject.proposalFibra pequeñaspa
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dc.title.translatedCharacterization of Patients with Hereditary Transthyretin Amyloid Polyneuropathy Using Quantitative Sensory Testing at an Electrophysiological Research Center in Bogotá
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