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Knowledge and Current Practices in Monogenic Uveitis: An International Survey by IUSG and AIDA Network

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dc.creatorSobrin, Lucia
dc.creatorCantarini, Luca
dc.creatorFonollosa, Alex
dc.creatorGoldstein, Debra
dc.creatorCarreño, Ester
dc.creatorCunningham, Emmett T.
dc.creatorDavis, Janet L.
dc.creatorYang, Peizeng
dc.creatorde la Torre Cifuentes, Ligia Alejandra
dc.creatorBabu, Kalpana
dc.creatorDenisova, Ekaterina V.
dc.creatorPleyer, Uwe
dc.creatorPavesio, Carlos E.
dc.creatorSridharan, Sudharshan
dc.creatorParoli, Maria Pia
dc.creatorTosi, Gian Marco
dc.creatorFrediani, Bruno
dc.creatorDe Smet, Marc D.
dc.creatorAgrawal, Rupesh
dc.creatorGupta, Vishali
dc.creatorGaggiano, Carla
dc.creatorFabiani, Claudia
dc.date.accessioned2024-01-31T18:27:32Z
dc.date.available2024-01-31T18:27:32Z
dc.date.created2023-11-04spa
dc.date.issued2023spa
dc.descriptionIntroduction: This study aims to explore awareness, knowledge, and diagnostic/therapeutic practices in monogenic uveitis (mU) among uveitis experts. Methods: This is an explorative, cross-sectional survey study. An anonymous, semi-structured, electronic survey was delivered to uveitis experts from the Autoinflammatory Diseases Alliance (AIDA) Network and International Uveitis Study Group (IUSG). We included respondents answering???50% of the survey. Results: Seventy-seven participants rated their knowledge of mU as proficient (3.9%), adequate (15.6%), sufficient (16.9%), or poor (63.6%). When asked about the first mU gene they thought of, 60.4% mentioned NOD2, 3.9% mentioned NLRP3 or MEFV, and 49.4% provided incorrect or no answers. Success rates in clinical scenarios varied from 15.6% to 55.8% and were higher for ophthalmologists working in multidisciplinary teams (p??0.01). Genetic testing was ordered for suspected mU by 41.6% of physicians. The availability of molecular techniques did not significantly differ based on geography (p??0.05). The public healthcare system ensured a higher percentage of tests prescribed were obtained by patients compared to private insurances (p??0.00). In terms of disease-modifying anti-rheumatic drugs (DMARDs), tumor necrosis factor-? inhibitors were the most familiar to uveitis experts. The difficulties with off-label therapy procedures were the primary barrier to DMARDs prescription for patients with mU and correlated inversely with the obtained/prescribed drug ratio for interleukin-1 (p??0.01) and interleukin-6 (p??0.01) inhibitors.Conclusions: This survey identifies proficiency areas, gaps, and opportunities for targeted improvements in patients care. The comprehensive outputs may inform evidence-based guidelines, empowering clinicians with standardized approaches, and drive an AIDA Network—IUSG unified effort to advance scientific knowledge and clinical practice.spa
dc.format.mimetypeapplication/pdfspa
dc.identifier.doihttps://doi.org/10.1007/s40123-023-00839-1spa
dc.identifier.issn2193-8245spa
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/42133
dc.language.isoengspa
dc.publisherUniversidad del Rosariospa
dc.relation.urihttps://link.springer.com/content/pdf/10.1007/s40123-023-00839-1.pdfspa
dc.rightsAttribution-NonCommercial 4.0 Internationalspa
dc.rights.accesRightsinfo:eu-repo/semantics/openAccessspa
dc.rights.accesoAbierto (Texto Completo)spa
dc.rights.urihttps://creativecommons.org/licenses/by-nc/4.0/spa
dc.sourceOphthalmology and Therapyspa
dc.source.instnameinstname:Universidad del Rosariospa
dc.source.reponamereponame:Repositorio Institucional EdocURspa
dc.subjectAutoinflammatory diseasesspa
dc.subjectDifferential diagnosisspa
dc.subjectGenetic uveitisspa
dc.subjectPathogenesisspa
dc.subjectRare diseasesspa
dc.titleKnowledge and Current Practices in Monogenic Uveitis: An International Survey by IUSG and AIDA Networkspa
dc.typearticlespa
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersionspa
dc.type.spaArtículospa
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