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dc.contributor.advisorGómez Mazuera, Angela 
dc.creatorDíaz Campos, Andrés 
dc.creatorCastro, José 
dc.creatorConceição, Isabel 
dc.date.accessioned2014-02-12T15:33:52Z
dc.date.available2014-02-12T15:33:52Z
dc.date.created2014-01-16
dc.date.issued2014 
dc.identifier.urihttp://repository.urosario.edu.co/handle/10336/4963
dc.descriptionIntroducción La mutación genética Val30Met de la proteína transtiretina (TTR) es causante de la polineuropatía amiloidótica familiar, comprometiendo en fases iniciales las fibras nerviosas pequeñas (mielinizadas Aδ y amielínicas tipo C), involucradas en funciones autonómicas, nocicepción, percepción térmica y sudoración. Los métodos neurofisiológicos convencionales, no logran detectar dichas anormalidades, retardando el inicio de tratamientos específicos para la enfermedad. Metodología El objetivo principal fue evaluar el test de cuantificación sensitiva (QST) como método de detección temprana de anormalidades de fibra pequeña, en individuos Val30Met, seguidos en el Hospital Universitario Santa María, Lisboa. Se clasificaron los pacientes en 3 grupos, según sintomatología y examen neurológico. Se analizaron los umbrales para percepción de frío, dolor con el calor y vibración en los grupos, en correlación con controles sanos. Resultados 18 registros de controles sanos y 33 de individuos con la mutación, divididos en asintomáticos (24,2%), sintomáticos con examen neurológico normal (42,4%) y sintomáticos con examen neurológico anormal (33,3%). No se encontraron diferencias entre los pacientes asintomáticos y los controles. Los umbrales para frío (p=0,042) y en el dolor intermedio con el calor (HP 5) (p=0,007) se encuentran elevados en individuos Val30Met sintomáticos con examen normal. En los pacientes sintomáticos con alteraciones al examen, también se presentaron alteraciones en el intervalo entre el inicio y el dolor intermedio con el calor (HP 5-0,5) (p=0,009). Discusión Los umbrales de frío y de percepción de dolor con el calor, permiten detectar anormalidades en personas con la mutación TTR Val30Met, sintomáticos, incluyendo aquellos sin cambios objetivos al examen neurológico.
dc.description.abstractIntroduction The small fiber neuropathies alter myelinized Aδ fibers and non-myelinized type C fibers, involved in autonomic functions, nociception, thermal perception and sweating. Genetic mutation TTR-Val30Met a most common etiology of Familial Amyloid Polineuropathy, compromised earlier the small nerve fibers. Conventional neurophysiological studies are unable to detect those abnormalities, delaying specific treatments. Methods The main goal of the present study was to evaluate the Quantitative Sensory Testing –QST, as an early diagnostic tool, identifying abnormalities in patients with the genetic mutationVal30Met in transthyretin (TTR) gene, followed at Santa María Hospital, Lisbon, Portugal. Patients were classified in 3 groups according to symptoms and neurological examination. Thresholds for cold perception, heat-pain and vibration were assessed in the different groups, compared to healthy controls. Results 33 cases and 18 controls, divided in asymptomathic (24.2%), symptomatic with normal neurological examination (42.4%) and symptomatic with abnormal neurological examination (33.3%). There were no differences between asymptomatic patients and healthy controls. The abnormalities on cold threshold detection (p=0,042) and intermediate severity of heat-pain response (HP5) (p=0,007), can occur before changes in the neurological examination. In patients with abnormal neurological examination differences also include the stimulus-response slope (HP 5-0,5) between intermediate severity (HP 5.0) and onset perception of pain with heat (HP 0.5) (p=0,009). Discussion The Quantitative Sensory Testing showed to be a useful tool in the detection of earlier abnormalities in patients withTTR Val30Met mutation.
dc.description.sponsorshipInternational Federation of Clinical Neurophysiology
dc.format.mimetypeapplication/pdf
dc.language.isospa
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/2.5/co/
dc.sourceinstname:Universidad del Rosario
dc.sourcereponame:Repositorio Institucional EdocUR
dc.subjectPolineuropatía amiloidótica familiar
dc.subjectfibra pequeña
dc.subjectumbral
dc.subjectcalor
dc.subjectfrío
dc.subjectvibración
dc.titleUso del test de cuantificación sensitiva para el estudio de la neuropatía de fibra pequeña
dc.typebachelorThesis
dc.publisherUniversidad del Rosario
dc.creator.degreeEspecialista en Neurofisiología Clínica
dc.publisher.programEspecialización en Neurofisiología Clínica
dc.publisher.departmentFacultad de Medicina
dc.subject.keywordamilial amyloidotic polyneuropathy
dc.subject.keywordsmall fiber
dc.subject.keywordhreshold
dc.subject.keywordheat
dc.subject.keywordcold
dc.subject.keywordvibration
dc.rights.accesRightsinfo:eu-repo/semantics/openAccess
dc.subject.decsAmiloidosis familiar
dc.subject.decsPolineuropatía paraneoplásica
dc.subject.decsSupresión genética
dc.type.spaTrabajo de grado
dc.rights.accesoAbierto (Texto completo)
dc.type.hasVersioninfo:eu-repo/semantics/acceptedVersion
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dc.rights.ccAtribución-NoComercial-SinDerivadas 2.5 Colombia
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