Mostrar el registro sencillo del documento

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

dc.rights.licenseAtribución-NoComercial 4.0 Internacional
dc.contributor.advisorRuiz Ospina, Edicson
dc.contributor.authorLasso Benavides, Jairo Fernando
dc.date.accessioned2023-02-02T16:33:41Z
dc.date.available2023-02-02T16:33:41Z
dc.date.issued2023-02-01
dc.identifier.urihttps://repositorio.unal.edu.co/handle/unal/83246
dc.descriptionilustraciones
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)
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  
dc.format.extentxv, 98 páginas
dc.format.mimetypeapplication/pdf
dc.language.isospa
dc.publisherUniversidad Nacional de Colombia
dc.rights.urihttp://creativecommons.org/licenses/by-nc/4.0/
dc.subject.ddc610 - Medicina y salud::616 - Enfermedades
dc.titleCaracterización de pacientes con polineuropatía amiloidótica hereditaria por transtiretina, usando la prueba cuantitativa sensitiva en un centro de investigación electrofisiológica en la ciudad de Bogotá
dc.typeTrabajo de grado - Especialidad Médica
dc.type.driverinfo:eu-repo/semantics/masterThesis
dc.type.versioninfo:eu-repo/semantics/acceptedVersion
dc.publisher.programBogotá - Medicina - Especialidad en Medicina Física y Rehabilitación
dc.contributor.researchgroupCIFEL (Centro de Investigación en Fisiatría y Electrodiagnóstico)
dc.coverage.cityBogotá - Colombia
dc.description.degreelevelEspecialidades Médicas
dc.description.degreenameEspecialista en Medicina Física y Rehabilitación
dc.description.researchareaEstudio electrofisiológico de fibra pequeña
dc.identifier.instnameUniversidad Nacional de Colombia
dc.identifier.reponameRepositorio Institucional Universidad Nacional de Colombia
dc.identifier.repourlhttps://repositorio.unal.edu.co/
dc.publisher.facultyFacultad de Medicina
dc.publisher.placeBogotá - Colombia
dc.publisher.branchUniversidad Nacional de Colombia - Sede Bogotá
dc.relation.referencesAdams, D. (2013). Recent advances in the treatment of familial amyloid polyneuropathy. Ther Adv Neurol Disord, 6(2), 129-139. https://doi.org/10.1177/1756285612470192
dc.relation.referencesAdams, D., Algalarrondo, V., Polydefkis, M., Sarswat, N., Slama, M. S., & Nativi-Nicolau, J. (2021). Expert opinion on monitoring symptomatic hereditary transthyretin-mediated amyloidosis and assessment of disease progression. Orphanet J Rare Dis, 16(1), 411. https://doi.org/10.1186/s13023-021-01960-9
dc.relation.referencesAdams, D., Coelho, T., Obici, L., Merlini, G., Mincheva, Z., Suanprasert, N., . . . Dyck, P. J. (2015). Rapid progression of familial amyloidotic polyneuropathy: a multinational natural history study. Neurology, 85(8), 675-682. https://doi.org/10.1212/wnl.0000000000001870
dc.relation.referencesAdams, D., Gonzalez-Duarte, A., O'Riordan, W. D., Yang, C. C., Ueda, M., Kristen, A. V., . . . Suhr, O. B. (2018). Patisiran, an RNAi Therapeutic, for Hereditary Transthyretin Amyloidosis. N Engl J Med, 379(1), 11-21. https://doi.org/10.1056/NEJMoa1716153
dc.relation.referencesAdams, D., Koike, H., Slama, M., & Coelho, T. (2019). Hereditary transthyretin amyloidosis: a model of medical progress for a fatal disease. Nat Rev Neurol, 15(7), 387-404. https://doi.org/10.1038/s41582-019-0210-4
dc.relation.referencesAdams, D., Samuel, D., Goulon-Goeau, C., Nakazato, M., Costa, P. M., Feray, C., . . . Said, G. (2000). The course and prognostic factors of familial amyloid polyneuropathy after liver transplantation. Brain, 123 ( Pt 7), 1495-1504. https://doi.org/10.1093/brain/123.7.1495
dc.relation.referencesAdams, D., Suhr, O. B., Dyck, P. J., Litchy, W. J., Leahy, R. G., Chen, J., . . . Coelho, T. (2017). Trial design and rationale for APOLLO, a Phase 3, placebo-controlled study of patisiran in patients with hereditary ATTR amyloidosis with polyneuropathy. BMC Neurol, 17(1), 181. https://doi.org/10.1186/s12883-017-0948-5
dc.relation.referencesAdams, D., Suhr, O. B., Hund, E., Obici, L., Tournev, I., Campistol, J. M., . . . Coelho, T. (2016). First European consensus for diagnosis, management, and treatment of transthyretin familial amyloid polyneuropathy. Curr Opin Neurol, 29 Suppl 1(Suppl 1), S14-26. https://doi.org/10.1097/wco.0000000000000289
dc.relation.referencesAkinc, A., Querbes, W., De, S., Qin, J., Frank-Kamenetsky, M., Jayaprakash, K. N., . . . Maier, M. A. (2010). Targeted delivery of RNAi therapeutics with endogenous and exogenous ligand-based mechanisms. Mol Ther, 18(7), 1357-1364. https://doi.org/10.1038/mt.2010.85
dc.relation.referencesAndersson, R. (1976). Familial amyloidosis with polyneuropathy. A clinical study based on patients living in northern Sweden. Acta Med Scand Suppl, 590, 1-64.
dc.relation.referencesAndo, Y., Coelho, T., Berk, J. L., Cruz, M. W., Ericzon, B. G., Ikeda, S., . . . Salvi, F. (2013). Guideline of transthyretin-related hereditary amyloidosis for clinicians. Orphanet J Rare Dis, 8, 31. https://doi.org/10.1186/1750-1172-8-31
dc.relation.referencesAndrade, C. (1952). A peculiar form of peripheral neuropathy; familiar atypical generalized amyloidosis with special involvement of the peripheral nerves. Brain, 75(3), 408-427. https://doi.org/10.1093/brain/75.3.408
dc.relation.referencesAraki, S., Mawatari, S., Ohta, M., Nakajima, A., & Kuroiwa, Y. (1968). Polyneuritic amyloidosis in a Japanese family. Arch Neurol, 18(6), 593-602. https://doi.org/10.1001/archneur.1968.00470360015001
dc.relation.referencesArda, O., Göksügür, N., & Tüzün, Y. (2014). Basic histological structure and functions of facial skin. Clin Dermatol, 32(1), 3-13. https://doi.org/10.1016/j.clindermatol.2013.05.021
dc.relation.referencesBakkers, M., Faber, C. G., Hoeijmakers, J. G. J., Lauria, G., & Merkies, I. S. J. (2014). Small fibers, large impact: Quality of life in small-fiber neuropathy. Muscle & Nerve, 49(3), 329-336. https://doi.org/https://doi.org/10.1002/mus.23910
dc.relation.referencesBaron, R., Maier, C., Attal, N., Binder, A., Bouhassira, D., Cruccu, G., . . . Treede, R. D. (2017). Peripheral neuropathic pain: a mechanism-related organizing principle based on sensory profiles. Pain, 158(2), 261-272. https://doi.org/10.1097/j.pain.0000000000000753
dc.relation.referencesBeirão, J. M., Malheiro, J., Lemos, C., Beirão, I., Costa, P., & Torres, P. (2015). Ophthalmological manifestations in hereditary transthyretin (ATTR V30M) carriers: a review of 513 cases. Amyloid, 22(2), 117-122. https://doi.org/10.3109/13506129.2015.1015678
dc.relation.referencesBenson, M. D., & Kincaid, J. C. (2007). The molecular biology and clinical features of amyloid neuropathy. Muscle Nerve, 36(4), 411-423. https://doi.org/10.1002/mus.20821
dc.relation.referencesBenson, M. D., Waddington-Cruz, M., Berk, J. L., Polydefkis, M., Dyck, P. J., Wang, A. K., . . . Coelho, T. (2018). Inotersen Treatment for Patients with Hereditary Transthyretin Amyloidosis. N Engl J Med, 379(1), 22-31. https://doi.org/10.1056/NEJMoa1716793
dc.relation.referencesBerk, J. L., Suhr, O. B., Obici, L., Sekijima, Y., Zeldenrust, S. R., Yamashita, T., . . . Dyck, P. J. (2013). Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial. Jama, 310(24), 2658-2667. https://doi.org/10.1001/jama.2013.283815
dc.relation.referencesBitzi, L. M., Lehnick, D., & Wilder-Smith, E. P. (2021). Small fiber neuropathy: Swiss cohort characterization. Muscle Nerve, 64(3), 293-300. https://doi.org/10.1002/mus.27340
dc.relation.referencesBonaïti, B., Alarcon, F., Bonaïti-Pellié, C., & Planté-Bordeneuve, V. (2009). Parent-of-origin effect in transthyretin related amyloid polyneuropathy. Amyloid, 16(3), 149-150. https://doi.org/10.1080/13506120903093944
dc.relation.referencesBouhassira, D., Attal, N., Alchaar, H., Boureau, F., Brochet, B., Bruxelle, J., . . . Vicaut, E. (2005). Comparison of pain syndromes associated with nervous or somatic lesions and development of a new neuropathic pain diagnostic questionnaire (DN4). Pain, 114(1), 29-36. https://doi.org/https://doi.org/10.1016/j.pain.2004.12.010
dc.relation.referencesBouhassira, D., Lantéri-Minet, M., Attal, N., Laurent, B., & Touboul, C. (2008). Prevalence of chronic pain with neuropathic characteristics in the general population. PAIN, 136(3), 380-387. https://doi.org/https://doi.org/10.1016/j.pain.2007.08.013
dc.relation.referencesBrannagan, T. H., 3rd. (2012). Current issues in peripheral neuropathy. J Peripher Nerv Syst, 17 Suppl 2, 1-3. https://doi.org/10.1111/j.1529-8027.2012.00387.x
dc.relation.referencesBril, V. (1999). NIS-LL: the primary measurement scale for clinical trial endpoints in diabetic peripheral neuropathy. Eur Neurol, 41 Suppl 1, 8-13. https://doi.org/10.1159/000052074
dc.relation.referencesBuxbaum, J. N., & Ruberg, F. L. (2017). Transthyretin V122I (pV142I)* cardiac amyloidosis: an age-dependent autosomal dominant cardiomyopathy too common to be overlooked as a cause of significant heart disease in elderly African Americans. Genet Med, 19(7), 733-742. https://doi.org/10.1038/gim.2016.200
dc.relation.referencesCappellari, M., Cavallaro, T., Ferrarini, M., Cabrini, I., Taioli, F., Ferrari, S., . . . Fabrizi, G. M. (2011). Variable presentations of TTR-related familial amyloid polyneuropathy in seventeen patients. J Peripher Nerv Syst, 16(2), 119-129. https://doi.org/10.1111/j.1529-8027.2011.00331.x
dc.relation.referencesCasellini, C. M., Parson, H. K., Richardson, M. S., Nevoret, M. L., & Vinik, A. I. (2013). Sudoscan, a noninvasive tool for detecting diabetic small fiber neuropathy and autonomic dysfunction. Diabetes Technol Ther, 15(11), 948-953. https://doi.org/10.1089/dia.2013.0129
dc.relation.referencesCastro, J., Miranda, B., Castro, I., de Carvalho, M., & Conceição, I. (2016). The diagnostic accuracy of Sudoscan in transthyretin familial amyloid polyneuropathy. Clin Neurophysiol, 127(5), 2222-2227. https://doi.org/10.1016/j.clinph.2016.02.013
dc.relation.referencesChong, P. S. T., & Cros, D. P. (2004). Technology literature review: Quantitative sensory testing. Muscle & Nerve, 29(5), 734-747. https://doi.org/https://doi.org/10.1002/mus.20053
dc.relation.referencesCoelho, T., Maia, L. F., Martins da Silva, A., Waddington Cruz, M., Planté-Bordeneuve, V., Lozeron, P., . . . Grogan, D. R. (2012). Tafamidis for transthyretin familial amyloid polyneuropathy: a randomized, controlled trial. Neurology, 79(8), 785-792. https://doi.org/10.1212/WNL.0b013e3182661eb1
dc.relation.referencesCoelho, T., Vinik, A., Vinik, E. J., Tripp, T., Packman, J., & Grogan, D. R. (2017). Clinical measures in transthyretin familial amyloid polyneuropathy. Muscle & Nerve, 55(3), 323-332. https://doi.org/https://doi.org/10.1002/mus.25257
dc.relation.referencesContijoch Roqueta, C., Izquierdo, M. F., & Arrabal Solano, L. (2020). Neuropatía de fibras pequeñas: una revisión. Medicina de Familia. SEMERGEN, 46(4), 277-282. https://doi.org/https://doi.org/10.1016/j.semerg.2019.11.003
dc.relation.referencesDebanne, D., Campanac, E., Bialowas, A., Carlier, E., & Alcaraz, G. (2011). Axon physiology. Physiol Rev, 91(2), 555-602. https://doi.org/10.1152/physrev.00048.2009
dc.relation.referencesDerry, S., Bell, R. F., Straube, S., Wiffen, P. J., Aldington, D., & Moore, R. A. (2019). Pregabalin for neuropathic pain in adults. Cochrane Database Syst Rev, 1(1), Cd007076. https://doi.org/10.1002/14651858.CD007076.pub3
dc.relation.referencesDevigili, G., Rinaldo, S., Lombardi, R., Cazzato, D., Marchi, M., Salvi, E., . . . Lauria, G. (2019). Diagnostic criteria for small fibre neuropathy in clinical practice and research. Brain, 142(12), 3728-3736. https://doi.org/10.1093/brain/awz333
dc.relation.referencesDevigili, G., Tugnoli, V., Penza, P., Camozzi, F., Lombardi, R., Melli, G., . . . Lauria, G. (2008). The diagnostic criteria for small fibre neuropathy: from symptoms to neuropathology. Brain, 131(Pt 7), 1912-1925. https://doi.org/10.1093/brain/awn093
dc.relation.referencesDohrn, M. F., Röcken, C., De Bleecker, J. L., Martin, J. J., Vorgerd, M., Van den Bergh, P. Y., . . . Claeys, K. G. (2013). Diagnostic hallmarks and pitfalls in late-onset progressive transthyretin-related amyloid-neuropathy. J Neurol, 260(12), 3093-3108. https://doi.org/10.1007/s00415-013-7124-7
dc.relation.referencesDyck, P. J., Davies, J. L., Litchy, W. J., & O'Brien, P. C. (1997). Longitudinal assessment of diabetic polyneuropathy using a composite score in the Rochester Diabetic Neuropathy Study cohort. Neurology, 49(1), 229-239. https://doi.org/10.1212/wnl.49.1.229
dc.relation.referencesDyck, P. J., Kratz, K. M., Lehman, K. A., Karnes, J. L., Melton, L. J., 3rd, O'Brien, P. C., . . . et al. (1991). The Rochester Diabetic Neuropathy Study: design, criteria for types of neuropathy, selection bias, and reproducibility of neuropathic tests. Neurology, 41(6), 799-807. https://doi.org/10.1212/wnl.41.6.799
dc.relation.referencesDyck, P. J., Zimmerman, I. R., Johnson, D. M., Gillen, D., Hokanson, J. L., Karnes, J. L., . . . O'Brien, P. C. (1996). A standard test of heat-pain responses using CASE IV. J Neurol Sci, 136(1-2), 54-63. https://doi.org/10.1016/0022-510x(95)00277-9
dc.relation.referencesDyck, P. J. B., González-Duarte, A., Obici, L., Polydefkis, M., Wiesman, J. F., Antonino, I., . . . Dyck, P. J. (2019). Development of measures of polyneuropathy impairment in hATTR amyloidosis: From NIS to mNIS + 7. Journal of the Neurological Sciences, 405. https://doi.org/10.1016/j.jns.2019.116424
dc.relation.referencesDyck, P. J. B., González-Duarte, A., Obici, L., Polydefkis, M., Wiesman, J. F., Antonino, I., . . . Dyck, P. J. (2019). Development of measures of polyneuropathy impairment in hATTR amyloidosis: From NIS to mNIS + 7. J Neurol Sci, 405, 116424. https://doi.org/10.1016/j.jns.2019.116424
dc.relation.referencesEriczon, B. G., Wilczek, H. E., Larsson, M., Wijayatunga, P., Stangou, A., Pena, J. R., . . . Suhr, O. (2015). Liver Transplantation for Hereditary Transthyretin Amyloidosis: After 20 Years Still the Best Therapeutic Alternative? Transplantation, 99(9), 1847-1854. https://doi.org/10.1097/tp.0000000000000574
dc.relation.referencesFabry, V., Gerdelat, A., Acket, B., Cintas, P., Rousseau, V., Uro-Coste, E., . . . Pavy-Le Traon, A. (2020). Which Method for Diagnosing Small Fiber Neuropathy? [Original Research]. Frontiers in Neurology, 11. https://doi.org/10.3389/fneur.2020.00342
dc.relation.referencesFernández Fuertes, J., Rodríguez Vicente, Ó., Sánchez Herráez, S., & Ramos Pascua, L. R. (2017). Early diagnosis of systemic amyloidosis by means of a transverse carpal ligament biopsy carried out during carpal tunnel syndrome surgery. Med Clin (Barc), 148(5), 211-214. https://doi.org/10.1016/j.medcli.2016.10.046
dc.relation.referencesGonzalez-Duarte, A. (2019). Autonomic involvement in hereditary transthyretin amyloidosis (hATTR amyloidosis). Clinical Autonomic Research, 29(2), 245-251. https://doi.org/10.1007/s10286-018-0514-2
dc.relation.referencesGonzález-López, E., López-Sainz, Á., & Garcia-Pavia, P. (2017). Diagnóstico y tratamiento de la amiloidosis cardiaca por transtiretina. Progreso y esperanza [10.1016/j.recesp.2017.05.018]. Revista Española de Cardiología, 70(11), 991-1004. https://doi.org/10.1016/j.recesp.2017.05.018
dc.relation.referencesGorson, K. C., Herrmann, D. N., Thiagarajan, R., Brannagan, T. H., Chin, R. L., Kinsella, L. J., & Ropper, A. H. (2008). Non-length dependent small fibre neuropathy/ganglionopathy. J Neurol Neurosurg Psychiatry, 79(2), 163-169. https://doi.org/10.1136/jnnp.2007.128801
dc.relation.referencesHawkins, P. N., Ando, Y., Dispenzeri, A., Gonzalez-Duarte, A., Adams, D., & Suhr, O. B. (2015). Evolving landscape in the management of transthyretin amyloidosis. Ann Med, 47(8), 625-638. https://doi.org/10.3109/07853890.2015.1068949
dc.relation.referencesHellman, U., Alarcon, F., Lundgren, H. E., Suhr, O. B., Bonaiti-Pellié, C., & Planté-Bordeneuve, V. (2008). Heterogeneity of penetrance in familial amyloid polyneuropathy, ATTR Val30Met, in the Swedish population. Amyloid, 15(3), 181-186. https://doi.org/10.1080/13506120802193720
dc.relation.referencesHoitsma, E., Reulen, J. P. H., de Baets, M., Drent, M., Spaans, F., & Faber, C. G. (2004). Small fiber neuropathy: a common and important clinical disorder. Journal of the Neurological Sciences, 227(1), 119-130. https://doi.org/https://doi.org/10.1016/j.jns.2004.08.012
dc.relation.referencesHolmgren, G., Steen, L., Ekstedt, J., Groth, C. G., Ericzon, B. G., Eriksson, S., . . . et al. (1991). Biochemical effect of liver transplantation in two Swedish patients with familial amyloidotic polyneuropathy (FAP-met30). Clin Genet, 40(3), 242-246. https://doi.org/10.1111/j.1399-0004.1991.tb03085.x
dc.relation.referencesKaku, M., & Berk, J. L. (2019). Neuropathy Associated with Systemic Amyloidosis. Semin Neurol, 39(5), 578-588. https://doi.org/10.1055/s-0039-1688994
dc.relation.referencesKim, D. H., Zeldenrust, S. R., Low, P. A., & Dyck, P. J. (2009). Quantitative sensation and autonomic test abnormalities in transthyretin amyloidosis polyneuropathy. Muscle Nerve, 40(3), 363-370. https://doi.org/10.1002/mus.21332
dc.relation.referencesKlein-Weigel, P. F., Volz, T. S., & Richter, J. G. (2018). Erythromelalgia. Vasa, 47(2), 91-97. https://doi.org/10.1024/0301-1526/a000675
dc.relation.referencesKoike, H., & Katsuno, M. (2020). Transthyretin Amyloidosis: Update on the Clinical Spectrum, Pathogenesis, and Disease-Modifying Therapies. Neurol Ther, 9(2), 317-333. https://doi.org/10.1007/s40120-020-00210-7
dc.relation.referencesKoike, H., Kawagashira, Y., Iijima, M., Yamamoto, M., Hattori, N., Tanaka, F., . . . Sobue, G. (2008). Electrophysiological features of late-onset transthyretin Met30 familial amyloid polyneuropathy unrelated to endemic foci. J Neurol, 255(10), 1526-1533. https://doi.org/10.1007/s00415-008-0962-z
dc.relation.referencesKucera, P., Goldenberg, Z., & Kurca, E. (2004). Sympathetic skin response: review of the method and its clinical use. Bratisl Lek Listy, 105(3), 108-116.
dc.relation.referencesKuritzky, L., Espay, A. J., Gelblum, J., Payne, R., & Dietrich, E. (2015). Diagnosing and treating neurogenic orthostatic hypotension in primary care. Postgrad Med, 127(7), 702-715. https://doi.org/10.1080/00325481.2015.1050340
dc.relation.referencesLangford, J. S., Tokita, E., Martindale, C., Millsap, L., Hemp, J., Pace, L. A., & Cortez, M. M. (2022). Quantitative gastrointestinal function and corresponding symptom profiles in autonomic neuropathy. Front Neurol, 13, 1027348. https://doi.org/10.3389/fneur.2022.1027348
dc.relation.referencesLauria, G., Bakkers, M., Schmitz, C., Lombardi, R., Penza, P., Devigili, G., . . . Merkies, I. S. (2010). Intraepidermal nerve fiber density at the distal leg: a worldwide normative reference study. J Peripher Nerv Syst, 15(3), 202-207. https://doi.org/10.1111/j.1529-8027.2010.00271.x
dc.relation.referencesLefaucheur, J. P. (2014). Neuropathies douloureuses et atteinte des petites fibres. Revue Neurologique, 170(12), 825-836. https://doi.org/https://doi.org/10.1016/j.neurol.2014.10.008
dc.relation.referencesLefaucheur, J. P., Wahab, A., Planté-Bordeneuve, V., Sène, D., Ménard-Lefaucheur, I., Rouie, D., . . . Ng Wing Tin, S. (2015). Diagnosis of small fiber neuropathy: A comparative study of five neurophysiological tests. Neurophysiologie Clinique/Clinical Neurophysiology, 45(6), 445-455. https://doi.org/https://doi.org/10.1016/j.neucli.2015.09.012
dc.relation.referencesLehrke, S., Steen, H., Kristen, A. V., Merten, C., Lossnitzer, D., Dengler, T. J., . . . Giannitsis, E. (2009). Serum levels of NT-proBNP as surrogate for cardiac amyloid burden: new evidence from gadolinium-enhanced cardiac magnetic resonance imaging in patients with amyloidosis. Amyloid, 16(4), 187-195. https://doi.org/10.3109/13506120903421538
dc.relation.referencesLiampas, A., Rekatsina, M., Vadalouca, A., Paladini, A., Varrassi, G., & Zis, P. (2021). Pharmacological Management of Painful Peripheral Neuropathies: A Systematic Review. Pain Ther, 10(1), 55-68. https://doi.org/10.1007/s40122-020-00210-3
dc.relation.referencesLoavenbruck, A. J., Singer, W., Mauermann, M. L., Sandroni, P., PJ, B. D., Gertz, M., . . . Low, P. A. (2016). Transthyretin amyloid neuropathy has earlier neural involvement but better prognosis than primary amyloid counterpart: an answer to the paradox? Ann Neurol, 80(3), 401-411. https://doi.org/10.1002/ana.24725
dc.relation.referencesLobato, L., & Rocha, A. (2012). Transthyretin amyloidosis and the kidney. Clin J Am Soc Nephrol, 7(8), 1337-1346. https://doi.org/10.2215/cjn.08720811
dc.relation.referencesLuigetti, M., Romano, A., Di Paolantonio, A., Bisogni, G., & Sabatelli, M. (2020). Diagnosis and Treatment of Hereditary Transthyretin Amyloidosis (hATTR) Polyneuropathy: Current Perspectives on Improving Patient Care. Ther Clin Risk Manag, 16, 109-123. https://doi.org/10.2147/tcrm.s219979
dc.relation.referencesMahfouz, M., Maruyama, R., & Yokota, T. (2020). Inotersen for the Treatment of Hereditary Transthyretin Amyloidosis. Methods Mol Biol, 2176, 87-98. https://doi.org/10.1007/978-1-0716-0771-8_6
dc.relation.referencesMariani, L. L., Lozeron, P., Théaudin, M., Mincheva, Z., Signate, A., Ducot, B., . . . Adams, D. (2015). Genotype-phenotype correlation and course of transthyretin familial amyloid polyneuropathies in France. Ann Neurol, 78(6), 901-916. https://doi.org/10.1002/ana.24519
dc.relation.referencesMartins, A. C., Rosa, A. M., Costa, E., Tavares, C., Quadrado, M. J., & Murta, J. N. (2015). Ocular Manifestations and Therapeutic Options in Patients with Familial Amyloid Polyneuropathy: A Systematic Review. Biomed Res Int, 2015, 282405. https://doi.org/10.1155/2015/282405
dc.relation.referencesMathias, C. J., & Bannister, S. R. (2013). Autonomic FailureA Textbook of Clinical Disorders of the Autonomic Nervous System: A Textbook of Clinical Disorders of the Autonomic Nervous System. Oxford University Press. https://doi.org/10.1093/med/9780198566342.001.0001
dc.relation.referencesMatsunaga, N., Anan, I., Forsgren, S., Nagai, R., Rosenberg, P., Horiuchi, S., . . . Suhr, O. B. (2002). Advanced glycation end products (AGE) and the receptor for AGE are present in gastrointestinal tract of familial amyloidotic polyneuropathy patients but do not induce NF-kappaB activation. Acta Neuropathol, 104(5), 441-447. https://doi.org/10.1007/s00401-002-0574-0
dc.relation.referencesMaurer, M. S., Hanna, M., Grogan, M., Dispenzieri, A., Witteles, R., Drachman, B., . . . Rapezzi, C. (2016). Genotype and Phenotype of Transthyretin Cardiac Amyloidosis: THAOS (Transthyretin Amyloid Outcome Survey). J Am Coll Cardiol, 68(2), 161-172. https://doi.org/10.1016/j.jacc.2016.03.596
dc.relation.referencesMenorca, R. M., Fussell, T. S., & Elfar, J. C. (2013). Nerve physiology: mechanisms of injury and recovery. Hand Clin, 29(3), 317-330. https://doi.org/10.1016/j.hcl.2013.04.002
dc.relation.referencesMunsat, T. L. (1989). Quantification of neurologic deficit 1ª Edición (Butterworths, Ed.).
dc.relation.referencesO'Brien, P. C., & Dyck, P. J. (1995). Procedures for setting normal values. Neurology, 45(1), 17-23. https://doi.org/10.1212/wnl.45.1.17
dc.relation.referencesObayashi, K., Ando, Y., Nakamura, M., Yamashita, T., Ueda, M., Haraoka, K., . . . Uchino, M. (2004). Near-infrared spectrophotoscopy of finger venules in assessment of autonomic dysfunction. Neurology, 63(1), 164-166. https://doi.org/10.1212/01.wnl.0000133135.10172.f3
dc.relation.referencesPark, J. W., Okamoto, L. E., Shibao, C. A., & Biaggioni, I. (2020). Pharmacologic treatment of orthostatic hypotension. Auton Neurosci, 229, 102721. https://doi.org/10.1016/j.autneu.2020.102721
dc.relation.referencesPetropoulos, I. N., Ponirakis, G., Ferdousi, M., Azmi, S., Kalteniece, A., Khan, A., . . . Malik, R. A. (2021). Corneal Confocal Microscopy: A Biomarker for Diabetic Peripheral Neuropathy. Clin Ther, 43(9), 1457-1475. https://doi.org/10.1016/j.clinthera.2021.04.003
dc.relation.referencesPicken, M. M., Herrera, G. A., & Dogan, A. (2015). Amyloid and related disorders: surgical pathology and clinical correlations. Humana Press.
dc.relation.referencesPlanté-Bordeneuve, V., Ferreira, A., Lalu, T., Zaros, C., Lacroix, C., Adams, D., & Said, G. (2007). Diagnostic pitfalls in sporadic transthyretin familial amyloid polyneuropathy (TTR-FAP). Neurology, 69(7), 693-698. https://doi.org/10.1212/01.wnl.0000267338.45673.f4
dc.relation.referencesPlanté-Bordeneuve, V., & Said, G. (2011). Familial amyloid polyneuropathy. Lancet Neurol, 10(12), 1086-1097. https://doi.org/10.1016/s1474-4422(11)70246-0
dc.relation.referencesPérez Zauner, A. M. (2016). Caracterización sociodemográfica de las enfermedades huérfanas en Colombia Universidad del Rosario].
dc.relation.referencesRapezzi, C., Quarta, C. C., Obici, L., Perfetto, F., Longhi, S., Salvi, F., . . . Perlini, S. (2013). Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective. Eur Heart J, 34(7), 520-528. https://doi.org/10.1093/eurheartj/ehs123
dc.relation.referencesRichardson, S. J. (2007). Cell and molecular biology of transthyretin and thyroid hormones. Int Rev Cytol, 258, 137-193. https://doi.org/10.1016/s0074-7696(07)58003-4
dc.relation.referencesRuberg, F. L., & Berk, J. L. (2012). Transthyretin (TTR) cardiac amyloidosis. Circulation, 126(10), 1286-1300. https://doi.org/10.1161/circulationaha.111.078915
dc.relation.referencesRubinow, A., & Cohen, A. S. (1986). Scalloped pupils in familial amyloid polyneuropathy. Arthritis Rheum, 29(3), 445-447. https://doi.org/10.1002/art.1780290323
dc.relation.referencesSaid, G., Grippon, S., & Kirkpatrick, P. (2012). Tafamidis. In Nat Rev Drug Discov (Vol. 11, pp. 185-186). https://doi.org/10.1038/nrd3675
dc.relation.referencesSaraiva, M. J., Magalhaes, J., Ferreira, N., & Almeida, M. R. (2012). Transthyretin deposition in familial amyloidotic polyneuropathy. Curr Med Chem, 19(15), 2304-2311. https://doi.org/10.2174/092986712800269236
dc.relation.referencesSattianayagam, P. T., Hahn, A. F., Whelan, C. J., Gibbs, S. D., Pinney, J. H., Stangou, A. J., . . . Gillmore, J. D. (2012). Cardiac phenotype and clinical outcome of familial amyloid polyneuropathy associated with transthyretin alanine 60 variant. Eur Heart J, 33(9), 1120-1127. https://doi.org/10.1093/eurheartj/ehr383
dc.relation.referencesSchmidt, H. H., Waddington-Cruz, M., Botteman, M. F., Carter, J. A., Chopra, A. S., Hopps, M., . . . Amass, L. (2018). Estimating the global prevalence of transthyretin familial amyloid polyneuropathy. Muscle Nerve, 57(5), 829-837. https://doi.org/10.1002/mus.26034
dc.relation.referencesSekijima, Y., Tojo, K., Morita, H., Koyama, J., & Ikeda, S. (2015). Safety and efficacy of long-term diflunisal administration in hereditary transthyretin (ATTR) amyloidosis. Amyloid, 22(2), 79-83. https://doi.org/10.3109/13506129.2014.997872
dc.relation.referencesSekijima, Y., Ueda, M., Koike, H., Misawa, S., Ishii, T., & Ando, Y. (2018). Diagnosis and management of transthyretin familial amyloid polyneuropathy in Japan: red-flag symptom clusters and treatment algorithm. Orphanet J Rare Dis, 13(1), 6. https://doi.org/10.1186/s13023-017-0726-x
dc.relation.referencesSekijima, Y., Yazaki, M., Oguchi, K., Ezawa, N., Yoshinaga, T., Yamada, M., . . . Ikeda, S. (2016). Cerebral amyloid angiopathy in posttransplant patients with hereditary ATTR amyloidosis. Neurology, 87(8), 773-781. https://doi.org/10.1212/wnl.0000000000003001
dc.relation.referencesSletten, D. M., Suarez, G. A., Low, P. A., Mandrekar, J., & Singer, W. (2012). COMPASS 31: a refined and abbreviated Composite Autonomic Symptom Score. Mayo Clin Proc, 87(12), 1196-1201. https://doi.org/10.1016/j.mayocp.2012.10.013
dc.relation.referencesSmith, S. C., Lamping, D. L., & Maclaine, G. D. H. (2012). Measuring health-related quality of life in diabetic peripheral neuropathy: A systematic review. Diabetes Research and Clinical Practice, 96(3), 261-270. https://doi.org/10.1016/j.diabres.2011.11.013
dc.relation.referencesSnell, R. S. (2007). Neuroanatomía clínica. Ed. Médica Panamericana.
dc.relation.referencesStewart, J. D., Low, P. A., & Fealey, R. D. (1992). Distal small fiber neuropathy: results of tests of sweating and autonomic cardiovascular reflexes. Muscle Nerve, 15(6), 661-665. https://doi.org/10.1002/mus.880150605
dc.relation.referencesSuanprasert, N., Berk, J. L., Benson, M. D., Dyck, P. J., Klein, C. J., Gollob, J. A., . . . Karsten, V. (2014). Retrospective study of a TTR FAP cohort to modify NIS+7 for therapeutic trials. J Neurol Sci, 344(1-2), 121-128. https://doi.org/10.1016/j.jns.2014.06.041
dc.relation.referencesSuhr, O. B., Larsson, M., Ericzon, B. G., & Wilczek, H. E. (2016). Survival After Transplantation in Patients With Mutations Other Than Val30Met: Extracts From the FAP World Transplant Registry. Transplantation, 100(2), 373-381. https://doi.org/10.1097/tp.0000000000001021
dc.relation.referencesSène, D. (2018). Small fiber neuropathy: Diagnosis, causes, and treatment. Joint Bone Spine, 85(5), 553-559. https://doi.org/10.1016/j.jbspin.2017.11.002
dc.relation.referencesTerkelsen, A. J., Karlsson, P., Lauria, G., Freeman, R., Finnerup, N. B., & Jensen, T. S. (2017). The diagnostic challenge of small fibre neuropathy: clinical presentations, evaluations, and causes. Lancet Neurol, 16(11), 934-944. https://doi.org/10.1016/s1474-4422(17)30329-0
dc.relation.referencesTesfaye, S., Boulton, A. J., Dyck, P. J., Freeman, R., Horowitz, M., Kempler, P., . . . Valensi, P. (2010). Diabetic neuropathies: update on definitions, diagnostic criteria, estimation of severity, and treatments. Diabetes Care, 33(10), 2285-2293. https://doi.org/10.2337/dc10-1303
dc.relation.referencesThaisetthawatkul, P., Fernandes Filho, J. A., & Herrmann, D. N. (2013). Contribution of QSART to the diagnosis of small fiber neuropathy. Muscle Nerve, 48(6), 883-888. https://doi.org/10.1002/mus.23891
dc.relation.referencesThemistocleous, A. C., Ramirez, J. D., Serra, J., & Bennett, D. L. (2014). The clinical approach to small fibre neuropathy and painful channelopathy. Pract Neurol, 14(6), 368-379. https://doi.org/10.1136/practneurol-2013-000758
dc.relation.referencesTreede, R. D., Lorenz, J., & Baumgärtner, U. (2003). Clinical usefulness of laser-evoked potentials. Neurophysiol Clin, 33(6), 303-314. https://doi.org/10.1016/j.neucli.2003.10.009
dc.relation.referencesTreister, R., O'Neil, K., Downs, H. M., & Oaklander, A. L. (2015). Validation of the composite autonomic symptom scale 31 (COMPASS-31) in patients with and without small fiber polyneuropathy. Eur J Neurol, 22(7), 1124-1130. https://doi.org/10.1111/ene.12717
dc.relation.referencesTsuzuki, T., Mita, S., Maeda, S., Araki, S., & Shimada, K. (1985). Structure of the human prealbumin gene. J Biol Chem, 260(22), 12224-12227.
dc.relation.referencesVetrugno, R., Liguori, R., Cortelli, P., & Montagna, P. (2003). Sympathetic skin response: basic mechanisms and clinical applications. Clin Auton Res, 13(4), 256-270. https://doi.org/10.1007/s10286-003-0107-5
dc.relation.referencesVieira, M., & Saraiva, M. J. (2014). Transthyretin: a multifaceted protein. Biomol Concepts, 5(1), 45-54. https://doi.org/10.1515/bmc-2013-0038
dc.relation.referencesVinik, E. J., Hayes, R. P., Oglesby, A., Bastyr, E., Barlow, P., Ford-Molvik, S. L., & Vinik, A. I. (2005). The development and validation of the Norfolk QOL-DN, a new measure of patients' perception of the effects of diabetes and diabetic neuropathy. Diabetes Technol Ther, 7(3), 497-508. https://doi.org/10.1089/dia.2005.7.497
dc.relation.referencesVinik, E. J., Vinik, A. I., Paulson, J. F., Merkies, I. S., Packman, J., Grogan, D. R., & Coelho, T. (2014). Norfolk QOL-DN: validation of a patient reported outcome measure in transthyretin familial amyloid polyneuropathy. J Peripher Nerv Syst, 19(2), 104-114. https://doi.org/10.1111/jns5.12059
dc.relation.referencesWalk, D., Sehgal, N., Moeller-Bertram, T., Edwards, R. R., Wasan, A., Wallace, M., . . . Backonja, M. M. (2009). Quantitative sensory testing and mapping: a review of nonautomated quantitative methods for examination of the patient with neuropathic pain. Clin J Pain, 25(7), 632-640. https://doi.org/10.1097/AJP.0b013e3181a68c64
dc.relation.referencesWang, Q., Liu, C., & Zhang, Z. (2016). Transthyretin and Normal Human Pregnancy: Mini Review. Crit Rev Eukaryot Gene Expr, 26(3), 273-277. https://doi.org/10.1615/CritRevEukaryotGeneExpr.2016017323
dc.relation.referencesWaxman, S. G., Arias Rebatet, G., & Medina Soriano, C. A. (2004). Neuroanatomía clínica.
dc.relation.referencesWieczorek, E., & Ożyhar, A. (2021). Transthyretin: From Structural Stability to Osteoarticular and Cardiovascular Diseases. Cells, 10(7). https://doi.org/10.3390/cells10071768
dc.relation.referencesWilczek, H. E., Larsson, M., & Ericzon, B. G. (2011). Long-term data from the Familial Amyloidotic Polyneuropathy World Transplant Registry (FAPWTR). Amyloid, 18 Suppl 1, 193-195. https://doi.org/10.3109/13506129.2011.574354072
dc.relation.referencesWixner, J., Mundayat, R., Karayal, O. N., Anan, I., Karling, P., & Suhr, O. B. (2014). THAOS: gastrointestinal manifestations of transthyretin amyloidosis - common complications of a rare disease. Orphanet J Rare Dis, 9, 61. https://doi.org/10.1186/1750-1172-9-61
dc.relation.referencesWixner, J., Suhr, O. B., & Anan, I. (2018). Management of gastrointestinal complications in hereditary transthyretin amyloidosis: a single-center experience over 40 years. Expert Rev Gastroenterol Hepatol, 12(1), 73-81. https://doi.org/10.1080/17474124.2018.1397511
dc.relation.referencesYamashita, T., Ando, Y., Okamoto, S., Misumi, Y., Hirahara, T., Ueda, M., . . . Uchino, M. (2012). Long-term survival after liver transplantation in patients with familial amyloid polyneuropathy. Neurology, 78(9), 637-643. https://doi.org/10.1212/WNL.0b013e318248df18
dc.relation.referencesYee, A. W., Aldeghi, M., Blakeley, M. P., Ostermann, A., Mas, P. J., Moulin, M., . . . Forsyth, V. T. (2019). A molecular mechanism for transthyretin amyloidogenesis. Nat Commun, 10(1), 925. https://doi.org/10.1038/s41467-019-08609-z
dc.rights.accessrightsinfo:eu-repo/semantics/openAccess
dc.subject.decsDiagnosis
dc.subject.decsDiagnóstico
dc.subject.decsAmiloidosis
dc.subject.lembAmyloidosis
dc.subject.proposalPolineuropatía amiloidótica hereditaria por transtiretina
dc.subject.proposalPrueba cuantitativa sensitiva
dc.subject.proposalFibra pequeña
dc.title.translatedCharacterization of Patients with Hereditary Transthyretin Amyloid Polyneuropathy Using Quantitative Sensory Testing at an Electrophysiological Research Center in Bogotá
dc.type.coarhttp://purl.org/coar/resource_type/c_bdcc
dc.type.coarversionhttp://purl.org/coar/version/c_ab4af688f83e57aa
dc.type.contentText
dc.type.redcolhttp://purl.org/redcol/resource_type/TM
oaire.accessrightshttp://purl.org/coar/access_right/c_abf2
dcterms.audience.professionaldevelopmentPúblico general


Archivos en el documento

Thumbnail
Nombre:
79953271.2022.pdf
Tamaño:
2.714Mb
Formato:
PDF
Descripción:
Trabajo de grado - Especialidad ...
Descargar

Este documento aparece en la(s) siguiente(s) colección(ones)

Mostrar el registro sencillo del documento

Atribución-NoComercial 4.0 InternacionalEsta obra está bajo licencia internacional Creative Commons Reconocimiento-NoComercial 4.0.Este documento ha sido depositado por parte de el(los) autor(es) bajo la siguiente constancia de depósito