Prevalencia y coprevalencia de los factores inmuno genéticos en pacientes con miopatías inflamatorias idiopáticas de un centro de tercer nivel de complejidad

dc.contributor.advisorRondón Herrera, Federicospa
dc.contributor.advisorPatricia Rojas, Angelaspa
dc.contributor.authorDelgado Marrugo, Raul Davidspa
dc.contributor.researchgroupBiología Celular y Autoinmunidadspa
dc.coverage.cityBogotáspa
dc.coverage.countryColombiaspa
dc.coverage.temporal2016-2022
dc.date.accessioned2024-09-05T18:33:09Z
dc.date.available2024-09-05T18:33:09Z
dc.date.issued2024
dc.descriptionilustraciones, diagramas, tablasspa
dc.description.abstractIntroducción: En pacientes con miopatías inflamatorias idiopáticas (MII) se han correlacionado autoanticuerpos y alelos HLA con fenotipos clínicos en diferentes regiones del mundo. Objetivo: Evaluamos las características inmunogénicas en una población de la ciudad de Bogotá, Colombia. Métodos: Estudio transversal de 68 pacientes con MII. Panel de 15 autoanticuerpos específicos y asociados a miositis. Se realizó determinación de alelos HLA-DQA1, DQB1, DR mediante técnica de reacción en cadena de la polimerasa en tiempo real. Resultados: La población del estudio tenía una edad media de 52,2 años, y el 73% de los participantes eran mujeres. En el grupo, los tipos de MII más frecuentemente observados fueron Dermatomiositis (DM) (58%), Polimiositis (PM) (25%), Síndrome Antisintetasa (ASyS) (5,8%), Miositis Necrotizante Inmunomediada (MNIM) (5,8%) y Miositis por Cuerpos de Inclusión (MCI) (4%). Se realizó un panel de autoanticuerpos en 23 pacientes. Los resultados mostraron que Mi-2 (52%) era el anticuerpo más prevalente relacionado con DM (83%), características clínicas Gottron (75%) y Heliotropo (58%) con HLA-DQB1*03 (50%); ASyS Jo-1 (7; 30%) relacionados con PM (85%), neumonía intersticial inespecífica (NINE) (14%) y HLA-DQB1*03 (28%); anticuerpos asociados a Ku (13%) relacionados con DM (66%), Gottron y Heliotropo (66%), NINE (33%) y HLA-DQB1*03 (33%) Conclusiones: Este es el primer estudio realizado en Colombia que determina alelos HLA y autoanticuerpos de miositis en pacientes con MII, se encontraron diferentes co-prevalencias entre las manifestaciones clínicas y el perfil inmunogénico, lo que permite conocer las características de la población en nuestra comunidad e incentiva la investigación para estudios con una población mayor (Texto tomado de la fuente).spa
dc.description.abstractIntroduction: In patients with idiopathic inflammatory myopathies (IIM) autoantibodies and HLA alleles have been correlated with clinical phenotypes in different regions worldwide. Aim: We evaluated immunogenic characteristics in a population from the city of Bogota, Colombia. Methods: A cross-sectional study of 68 patients with IIM. Panel of 15 specific and myositisassociated autoantibodies, determination of HLA-DQA1, DQB1, DR alleles was performed by real-time polymerase chain reaction technique. Results: The study population had a mean age of 52.2 years, with 73% of the participants being female. Among the group, the most frequently observed types of IIM were Dermatomyositis (DM) (58%), Polymyositis (PM) (25%), Antisynthetase Syndrome (ASyS) (5.8%), Immune-Mediated Necrotizing Myositis (IMNM) (5.8%), and Inclusion Body Myositis (IBM) (4%). Table 1 shows other clinical features. An autoantibody panel was performed on 23 patients. Results showed that Mi-2 (52%) was the most prevalent antibody, relating to DM (83%), clinical features Gottron′s (75%) and Heliotrope (58%) with HLA-DQB1*03 (50%); ASyS Jo-1 (7; 30%) related to PM (85%), Nonspecific interstitial pneumonia (NSIP) (14%) and HLA-DQB1*03 (28%); Ku-associated antibodies (13%) related to DM (66%), Gottron and Heliotrope (66%), NSIP (33%) and HLA-DQB1*03 (33%). Conclusions: This is the first study conducted in Colombia determining HLA alleles and myositis autoantibodies in patients with MI, different co-prevalences were found between clinical manifestations and immunogenic profile, which allows us to know the characteristics of the population in our community and encourages research for studies with a larger population.eng
dc.description.degreelevelEspecialidades Médicasspa
dc.description.degreenameEspecialista en Medicina Internaspa
dc.description.methodsEstudio observacional corte transversal descriptivo. Pacientes >18 años con diagnóstico de miopatía inflamatoria probable o definitiva dado por los criterios EULAR/ACR 2017 en pacientes hospitalizados o que asistieron a consulta externa de reumatología en el Hospital Universitario Nacional, durante el periodo entre enero de 2016 a julio de 2022. Pacientes con miopatías inflamatorias probables o definitivas secundarias a procesos neoplásicos.spa
dc.format.extent73 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/86796
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 Internaspa
dc.relation.referencesDamoiseaux J, Vulsteke JB, Tseng CW, Platteel ACM, Piette Y, Shovman O, et al. Autoantibodies in idiopathic inflammatory myopathies: Clinical associations and laboratory evaluation by mono- and multispecific immunoassays. Autoimmun Rev. 2019 Mar 1;18(3):293–305.spa
dc.relation.referencesOldroyd A, Lilleker J, Chinoy H. Idiopathic inflammatory myopathies-a guide to subtypes, diagnostic approach and treatment. Clinical Medicine. 2017;17(4):322– 30.spa
dc.relation.referencesSmoyer-Tomic KE, Amato AA, Fernandes AW. Incidence and prevalence of idiopathic inflammatory myopathies among commercially insured, Medicare supplemental insured, and Medicaid enrolled populations: An administrative claims analysis. BMC Musculoskelet Disord. 2012;13.spa
dc.relation.referencesMcHugh NJ, Tansley SL. Autoantibodies in myositis. Nat Rev Rheumatol. 2018 May 1;14(5):290–302.spa
dc.relation.referencesPina Cruellas MG, Trindade Viana V dos S, Levy-Neto M, Carlos de Souza FH, Shinjo SK. Myositis-specific and myositis-associated autoantibody profiles and their clinical associations in a large series of patients with polymyositis and dermatomyositis. Clinics. 2013 Jul;68(7):909–14.spa
dc.relation.referencesO’Hanlon TP, Carrick DM, Arnett FC, Reveille JD, Carrington M, Gao X, et al. Immunogenetic risk and protective factors for the idiopathic inflammatory myopathies: Distinct HLA-A, -B, -Cw, -DRB1 and -DQA1 allelic profiles and motifs define clinicopathologic groups in Caucasians. Medicine. 2005 Nov;84(6):338–49.spa
dc.relation.referencesMiller FW, Chen W, O’Hanlon TP, Cooper RG, Vencovsky J, Rider LG, et al. Genome-wide association study identifies HLA 8.1 ancestral haplotype alleles as major genetic risk factors for myositis phenotypes. Genes Immun. 2015 Oct 1;16(7):470–80.spa
dc.relation.referencesPatricia K, Castro V. Descripción de los anticuerpos, y manifestaciones clínicas de pacientes con polimiositis y dermatomiositis. 2014.spa
dc.relation.referencesRothwell S, Cooper RG, Lundberg IE, Miller FW, Gregersen PK, Bowes J, et al. Dense genotyping of immune-related loci in idiopathic inflammatory myopathies confirms HLA alleles as the strongest genetic risk factor and suggests different genetic background for major clinical subgroups. Ann Rheum Dis. 2016 Aug 1;75(8):1558–66.spa
dc.relation.referencesTieu J, Lundberg IE, Limaye V. Idiopathic inflammatory myositis. Best Pract Res Clin Rheumatol [Internet]. 2016;30(1):149–68. Available from: https://www.sciencedirect.com/science/article/pii/S1521694216300225spa
dc.relation.referencesMammen AL. Autoimmune Myopathies. Continuum (N Y) [Internet]. 2016;22(6):1852–70. Available from: www.ContinuumJournal.comspa
dc.relation.referencesMcGrath ER, Doughty CT, Amato AA. Autoimmune Myopathies: Updates on Evaluation and Treatment. Neurotherapeutics [Internet]. 2018 Oct 14;15(4):976–94. Available from: https://doi.org/10.1007/s13311-018-00676-2spa
dc.relation.referencesDalakas MC. Pathophysiology of inflammatory and autoimmune myopathies.Presse Med [Internet]. 2011;40(4, Part 2):e237–47. Available from: https://www.sciencedirect.com/science/article/pii/S0755498211000534spa
dc.relation.referencesHilton-Jones D. Inflammatory muscle diseases. Curr Opin Neurol [Internet]. 2001;14(5). Available from: https://journals.lww.com/coneurology/fulltext/2001/10000/inflammatory_muscle_diseases.7.aspxspa
dc.relation.referencesDimachkie MM, Barohn RJ, Amato AA. Idiopathic inflammatory myopathies. Vol.32, Neurologic Clinics. W.B. Saunders; 2014. p. 595–628.spa
dc.relation.referencesHill CL, Zhang Y, Sigurgeirsson B, Pukkala E, Mellemkjaer L, Airio A, et al. Frequency of specific cancer types in dermatomyositis and polymyositis: a population-based study. The Lancet [Internet]. 2001 Jan 13;357(9250):96–100. Available from: https://doi.org/10.1016/S0140-6736(00)03540-6spa
dc.relation.referencesClark KEN, Isenberg DA. A review of inflammatory idiopathic myopathy focusing on polymyositis. Eur J Neurol [Internet]. 2018 Jan 1;25(1):13–23. Available from: https://doi.org/10.1111/ene.13357spa
dc.relation.referencesStenzel W, Goebel HH, Aronica E. Review: Immune-mediated necrotizing myopathies – a heterogeneous group of diseases with specific myopathological features. Neuropathol Appl Neurobiol [Internet]. 2012 Dec 1;38(7):632–46. Available from: https://doi.org/10.1111/j.1365-2990.2012.01302.xspa
dc.relation.referencesGrable-Esposito P, Katzberg HD, Greenberg SA, Srinivasan J, Katz J, Amato AA. Immune-mediated necrotizing myopathy associated with statins. Muscle Nerve [Internet]. 2010 Feb 1;41(2):185–90. Available from: https://doi.org/10.1002/mus.21486spa
dc.relation.referencesNoguchi E, Uruha A, Suzuki S, Hamanaka K, Ohnuki Y, Tsugawa J, et al. Skeletal Muscle Involvement in Antisynthetase Syndrome. JAMA Neurol [Internet]. 2017 Aug 1;74(8):992–9. Available from: https://doi.org/10.1001/jamaneurol.2017.0934spa
dc.relation.referencesDalakas MC. Inflammatory muscle diseases: a critical review on pathogenesis and therapies. Curr Opin Pharmacol [Internet]. 2010;10(3):346–52. Available from: https://www.sciencedirect.com/science/article/pii/S1471489210000275spa
dc.relation.referencesSchmidt J, Dalakas MC. Pathomechanisms of inflammatory myopathies: recent advances and implications for diagnosis and therapies. Expert Opin Med Diagn [Internet]. 2010 May 1;4(3):241–50. Available from: https://doi.org/10.1517/17530051003713499spa
dc.relation.referencesFrikha F, Saidi N, Snoussi M, Ben Salah R, Ben Ayed M, Daoud E, et al. Le syndrome des antisynthétases : à propos de quatre observations et revue de la littérature. Rev Pneumol Clin [Internet]. 2012;68(6):351–60. Available from: https://www.sciencedirect.com/science/article/pii/S0761841712000971spa
dc.relation.referencesBenveniste O, Stenzel W, Allenbach Y. Advances in serological diagnostics of inflammatory myopathies. Curr Opin Neurol [Internet]. 2016;29(5). Available from: https://journals.lww.com/coneurology/fulltext/2016/10000/advances_in_serological_diagnostics_of.18.aspxspa
dc.relation.referencesBevilacqua JA, Earle N. Inflammatory myopathies. Vol. 29, Revista Medica Clinica Las Condes. Ediciones Doyma, S.L.; 2018. p. 611–21.spa
dc.relation.referencesLundberg IE, Tjärnlund A, Bottai M, Werth VP, Pilkington C, Visser M de, et al. 2017 European League Against Rheumatism/American College of Rheumatology classification criteria for adult and juvenile idiopathic inflammatory myopathies and their major subgroups. Ann Rheum Dis. 2017 Dec 1;76(12):1955–64.spa
dc.relation.referencesNakashima R. Clinical significance of myositis-specific autoantibodies. Immunol Med [Internet]. 2018 Jul 3;41(3):103–12. Available from: https://doi.org/10.1080/25785826.2018.1531188spa
dc.relation.referencesZampeli E, Venetsanopoulou A, Argyropoulou OD, Mavragani CP, Tektonidou MG, Vlachoyiannopoulos PG, et al. Myositis autoantibody profiles and their clinical associations in Greek patients with inflammatory myopathies. Clin Rheumatol [Internet]. 2019;38(1):125–32. Available from: https://doi.org/10.1007/s10067-018-4267-zspa
dc.relation.referencesTemmoku J, Sato S, Fujita Y, Asano T, Suzuki E, Kanno T, et al. Clinical significance of myositis-specific autoantibody profiles in Japanese patients with polymyositis/dermatomyositis. Medicine (United States). 2019 May 1;98(20).spa
dc.relation.referencesPlatteel ACM, Wevers BA, Lim J, Bakker JA, Bontkes HJ, Curvers J, et al. Frequencies and clinical associations of myositis-related antibodies in The Netherlands: A one-year survey of all Dutch patients. J Transl Autoimmun [Internet]. 2019;2:100013. Available from: https://www.sciencedirect.com/science/article/pii/S2589909019300139spa
dc.relation.referencesSelva-O’Callaghan A, Pinal-Fernandez I, Trallero-Araguás E, Milisenda JC, GrauJunyent JM, Mammen AL. Classification and management of adult inflammatory myopathies. Lancet Neurol [Internet]. 2018 Sep 1;17(9):816–28. Available from: https://doi.org/10.1016/S1474-4422(18)30254-0spa
dc.relation.referencesJoyce NC, Oskarsson B, Jin LW. Muscle Biopsy Evaluation in Neuromuscular Disorders. Phys Med Rehabil Clin N Am [Internet]. 2012;23(3):609–31. Available from: https://www.sciencedirect.com/science/article/pii/S1047965112000459spa
dc.relation.referencesStaron RS, Hagerman FC, Hikida RS, Murray TF, Hostler DP, Crill MT, et al. Fiber Type Composition of the Vastus Lateralis Muscle of Young Men and Women. Journal of Histochemistry & Cytochemistry [Internet]. 2000 May 1;48(5):623–9. Available from: https://doi.org/10.1177/002215540004800506spa
dc.relation.referencesWitt LJ, Curran JJ, Strek ME. The diagnosis and treatment of antisynthetase syndrome. Clin Pulm Med. 2016;23(5):218–26.spa
dc.relation.referencesBarsotti S, Lundberg IE. Current Treatment for Myositis. Curr Treatm Opt Rheumatol. 2018 Dec;4(4):299–315.spa
dc.relation.referencesSasaki H, Kohsaka H. Current diagnosis and treatment of polymyositis and dermatomyositis. Mod Rheumatol [Internet]. 2018 Nov 2;28(6):913–21. Available from: https://doi.org/10.1080/14397595.2018.1467257spa
dc.relation.referencesRothwell S, Cooper RG, Lamb JA, Chinoy H. Europe PMC Funders Group Strategies for Evaluating Idiopathic Inflammatory Myopathy Disease Susceptibility Genes. 2015;16(10).spa
dc.relation.referencesSalazar-Villa G, Rodríguez-Prada C, Bonfante-Tamara M, Restrepo-Correa R, Rodríguez-Padilla LM, Mesa-Navas MA, et al. Clinical characterisation of patients with inflammatory myopathy in 2 tertiary care hospitals in Colombia: A descriptive survey. Revista Colombiana de Reumatologia. 2022 Jan 1;29(1):9–18.spa
dc.relation.referencesSantos VA, Aragón CC, Posso-Osorio I, Obando MA, Barrera T, Zamorano L, et al. Caracterización epidemiológica de pacientes con miopatía inflamatoria en un hospital de cuarto nivel en Cali, Colombia. Revista Colombiana de Reumatología [Internet]. 2022;29(1):83–8. Available from: https://www.elsevier.es/es-revistarevista-colombiana-reumatologia-374-articulo-caracterizacion-epidemiologicapacientes-con-miopatia-S0121812320301638spa
dc.relation.referencesBernal-Macías S, Fernández-Ávila DG, Rincón-Riaño DN, Gutiérrez JM, Rosselli D. Prevalence of inflammatory myopathies in Colombia: Demographic analysis from the National Health Registry 2012–2018. Revista Colombiana de Reumatología [Internet]. 2023;30(2):81–6. Available from: https://www.sciencedirect.com/science/article/pii/S0121812321001262spa
dc.relation.referencesValenzuela A, Torres M, Devés JD. Performance of the 2017 EULAR/ACR criteria for idiopathic inflammatory myopathies in a cohort of patients from Latin America. Medicine (United States). 2022 Oct 28;101(43):E31015.spa
dc.relation.referencesZamudio GL, Barbosa Cobos RE, Solorzano Ruiz A, Morales EL, Delgado Ochoa D. HLA class I and II alleles may influence susceptibility to adult dermatomyositis in a Mexican mestizo population. Int J Clin Rheumtol. 2018;13(2).spa
dc.relation.referencesArechiga T, Villareal M, Villafranca J, Perez I, Lozoya A, Delgado D. Seventeen myositis autoantibodies: serological profile of hispanic patients with idiopathic inflammatory myopathies. In BMJ; 2018. p. 1536.3-1537.spa
dc.relation.referencesNuño L, Nuño N, Joven B, Carreira P, Maldonado V, Larena C, et al. Multicenter Registry on Inflammatory Myositis From the Rheumatology Society in Madrid, Spain: Descriptive Analysis. Vol. 13, Reumatol Clin. 2017.spa
dc.relation.referencesLeclair V, Galindo-Feria AS, Rothwell S, Kryštůfková O, Zargar SS, Mann H, et al. Distinct HLA associations with autoantibody-defined subgroups in idiopathic inflammatory myopathies. EBioMedicine. 2023 Oct 1;96.spa
dc.relation.referencesSatoh M, Tanaka S, Ceribelli A, Calise SJ, Chan EKL. A Comprehensive Overview on Myositis-Specific Antibodies: New and Old Biomarkers in Idiopathic Inflammatory Myopathy. Vol. 52, Clinical Reviews in Allergy and Immunology. Humana Press Inc.; 2017.spa
dc.rights.accessrightsinfo:eu-repo/semantics/openAccessspa
dc.rights.licenseReconocimiento 4.0 Internacionalspa
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/spa
dc.subject.ddc610 - Medicina y salud::616 - Enfermedadesspa
dc.subject.ddc610 - Medicina y salud::615 - Farmacología y terapéuticaspa
dc.subject.decsMiotoxicidadspa
dc.subject.decsMyotoxicityeng
dc.subject.decsMiositisspa
dc.subject.decsMyositiseng
dc.subject.decsAutoanticuerposspa
dc.subject.decsAutoantibodieseng
dc.subject.decsAnticuerpos Fosfo-Específicosspa
dc.subject.decsAntibodies, Phospho-Specificeng
dc.subject.proposalDermatomiositisspa
dc.subject.proposalPolimiositisspa
dc.subject.proposalAutoanticuerposspa
dc.subject.proposalHLAeng
dc.subject.proposalDermatomyositiseng
dc.subject.proposalPolymyositiseng
dc.subject.proposalAutoantibodieseng
dc.titlePrevalencia y coprevalencia de los factores inmuno genéticos en pacientes con miopatías inflamatorias idiopáticas de un centro de tercer nivel de complejidadspa
dc.title.translatedPrevalence and co-prevalence of immunogenetic factors in patients with idiopathic inflammatory idiopathic myopathies in a third level of complexityeng
dc.typeTrabajo de grado - Especialidad Médicaspa
dc.type.coarhttp://purl.org/coar/resource_type/c_db06spa
dc.type.coarversionhttp://purl.org/coar/version/c_ab4af688f83e57aaspa
dc.type.contentTextspa
dc.type.driverinfo:eu-repo/semantics/doctoralThesisspa
dc.type.redcolhttp://purl.org/redcol/resource_type/TDspa
dc.type.versioninfo:eu-repo/semantics/acceptedVersionspa
dcterms.audience.professionaldevelopmentEstudiantesspa
dcterms.audience.professionaldevelopmentInvestigadoresspa
dcterms.audience.professionaldevelopmentMaestrosspa
oaire.accessrightshttp://purl.org/coar/access_right/c_abf2spa

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