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      La transdisciplinariedad en el abordaje de la amiloidosis Translated title: Transdisciplinarity in the approach to amyloidosis Translated title: Transdisciplinaridade na abordagem da amiloidose

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          Resumen

          La creciente complejidad en el abordaje de las enfermedades desafía a desarrollar un nuevo paradigma de atención que atraviese los límites disciplinarios, donde profesionales de diferentes especialidades abordan un problema aplicando su expertise, respetando el conocimiento del otro y contribuyendo a la mirada global de la problemática.

          Las amiloidosis son enfermedades raras. El diagnóstico se basa en la biopsia de aquellos órganos en los que se sospecha de infiltración amiloidea. Existe un aumento del riesgo de sangrado asociado con estos procedimientos. Por ello, la disponibilidad de obtener muestras de determinados sitios con accesos menos invasivos, como las glándulas salivales menores (GSM), representan una alternativa. Objetivos: Describir las experiencias de biopsias GSM como herramienta diagnóstica en la detección de amiloidosis y sus complicaciones intra y postoperatorias. Estimar la performance diagnóstica. El diseño es de cohorte transversal. Se incluyeron consecutivamente todos los pacientes con sospecha de diagnóstico de amiloidosis, entre agosto 2018-septiembre 2020. Resultados: Se efectuaron 23 biopsias con procedimientos mínimamente invasivos. El 60,86 % fueron de sexo masculino y la media de edad 66 años. La prevalencia de amiloidosis fue del 33%. La sensibilidad fue del 55% y la especificidad del 100 %. Un paciente presentó mayor sangrado que lo habitual durante el procedimiento y ninguno presentó complicaciones postoperatorias. Conclusiones: Se describieron las experiencias de biopsia de GSM como herramienta diagnóstica de amiloidosis, reportando una leve complicación intraoperatoria y nula posoperatoria. La prueba alcanzó una sensibilidad del 55 % y una especificidad del 100 %.

          Abstract

          The increasing complexity in the approach to diseases challenges the development of a new paradigm of care that crosses disciplinary limits, where professionals from different disciplines approach a problem applying their expertise, respecting the knowledge of the other and contributing to the global view of the problem. Amyloidoses are rare diseases. The diagnosis is based on the biopsy of those organs in which amyloid infiltration is suspected. There is an increased risk of bleeding associated with these procedures. Therefore, the availability of obtaining samples from certain sites with less invasive accesses, such as the minor salivary glands (GSM), represent an alternative. Objectives: Describe the experiences of GSM biopsies as a diagnostic tool in the detection of amyloidosis and its intra and postoperative complications. - Estimate the diagnostic performance. The design is a cross-sectional cohort. All patients with a suspected diagnosis of amyloidosis were consecutively included, between August 2018-September 2020. Results: 23 biopsies were performed with minimally invasive procedures. 60.86% were male and the average age was 66 years. The prevalence of amyloidosis was 33%. The sensitivity was 55% and the specificity 100%. One patient had more bleeding than usual during the procedure and none had postoperative complications. Conclusions: GSM biopsy experiences were described as a diagnostic tool for amyloidosis, reporting a slight intraoperative complication and no postoperative complication. The test achieved a sensitivity of 55% and a specificity of 100%.

          Resumo

          A crescente complexidade na abordagem das doenças desafia o desenvolvimento de um novo paradigma de cuidado que extrapola os limites disciplinares, onde profissionais de diferentes disciplinas abordam um problema aplicando suas competências, respeitando o conhecimento do outro e contribuindo para a visão global do problema. As amiloidoses são doenças raras. O diagnóstico é baseado na biópsia dos órgãos em que há suspeita de infiltração amilóide. Há um risco aumentado de sangramento associado a esses procedimentos. Portanto, a disponibilidade de obtenção de amostras em determinados locais com acessos menos invasivos, como as glândulas salivares menores (GSM), representa uma alternativa. Metas: Descrever as experiências das biópsias GSM como ferramenta diagnóstica na detecção da amiloidose e suas complicações intra e pós-operatórias. - Estimar o desempenho diagnóstico. O desenho é uma coorte transversal. Todos os pacientes com suspeita de diagnóstico de amiloidose foram incluídos consecutivamente, entre agosto de 2018 e setembro de 2020. Resultados: 23 biópsias foram realizadas com procedimentos minimamente invasivos. 60,86% eram do sexo masculino e a idade média era de 66 anos. A prevalência de amiloidose foi de 33%. A sensibilidade foi de 55% e a especificidade de 100%. Um paciente teve mais sangramento que o normal durante o procedimento e nenhum apresentou complicações pós-operatórias. Conclusões: Foram descritas experiências de biópsia GSM como ferramenta diagnóstica para amiloidose, relatando uma leve complicação intra-operatória e nenhuma complicação pós-operatória. O teste atingiu uma sensibilidade de 55% e uma especificidade de 100%.

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          Most cited references15

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          Protein Misfolding, Amyloid Formation, and Human Disease: A Summary of Progress Over the Last Decade.

          Peptides and proteins have been found to possess an inherent tendency to convert from their native functional states into intractable amyloid aggregates. This phenomenon is associated with a range of increasingly common human disorders, including Alzheimer and Parkinson diseases, type II diabetes, and a number of systemic amyloidoses. In this review, we describe this field of science with particular reference to the advances that have been made over the last decade in our understanding of its fundamental nature and consequences. We list the proteins that are known to be deposited as amyloid or other type of aggregates in human tissues and the disorders with which they are associated, as well as the proteins that exploit the amyloid motif to play specific functional roles in humans. In addition, we summarize the genetic factors that have provided insight into the mechanisms of disease onset. We describe recent advances in our knowledge of the structures of amyloid fibrils and their oligomeric precursors and of the mechanisms by which they are formed and proliferate to generate cellular dysfunction. We show evidence that a complex proteostasis network actively combats protein aggregation and that such an efficient system can fail in some circumstances and give rise to disease. Finally, we anticipate the development of novel therapeutic strategies with which to prevent or treat these highly debilitating and currently incurable conditions. Expected final online publication date for the Annual Review of Biochemistry Volume 86 is June 20, 2017. Please see http://www.annualreviews.org/page/journal/pubdates for revised estimates.
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            Definition of organ involvement and treatment response in immunoglobulin light chain amyloidosis (AL): a consensus opinion from the 10th International Symposium on Amyloid and Amyloidosis, Tours, France, 18-22 April 2004.

            We undertook this study to develop uniformly accepted criteria for the definition of organ involvement and response for patients on treatment protocols for immunoglobulin light-chain amyloidosis (AL). A consensus panel was convened comprising 13 specialists actively involved in the treatment of patients with amyloidosis. Institutional criteria were submitted from each, and a consensus was developed defining each organ involved and the criteria for response. Specific criteria have been developed with agreed on definitions of organ and hematologic response as a result of discussions at the 10th International Symposium on Amyloid and Amyloidosis held in Tours, France, April 2004. These criteria now form the working definition of involvement and response for the purposes of future data collection and reporting. We report criteria that centers can now use to define organ involvement and uniform response criteria for reporting outcomes in patients with light-chain AL. Copyright (c) 2005 Wiley-Liss, Inc.
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              Nomenclature 2014: Amyloid fibril proteins and clinical classification of the amyloidosis.

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                Author and article information

                Contributors
                Journal
                Rev Fac Cien Med Univ Nac Cordoba
                Rev Fac Cien Med Univ Nac Cordoba
                Revista de la Facultad de Ciencias Médicas
                Universidad Nacional de Córdoba (Argentina postmaster@ucbscm.edu.ar, postmaster@bfcmcb.sld.ar, cielo@fcmcb.sld.ar, bfcmcb@biomed.uncor.ar )
                0014-6722
                1853-0605
                23 August 2021
                23 August 2021
                : 78
                : 3
                : 313-316
                Affiliations
                [1 ] Hospital Italiano de Buenos Aires Buenos Aires Argentina
                [2 ] Instituto de Medicina Traslacional e Ingeniería Biomédica (IMTIB), CONICET-IUHI-HIBA Buenos Aires Argentina
                [3 ] Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET) Buenos Aires Argentina
                Author information
                https://orcid.org/0000-0002-5399-0197
                https://orcid.org/0000-0003-2177-7727
                https://orcid.org/0000-0001-9690-2284
                https://orcid.org/0000-0003-1403-7069
                https://orcid.org/0000-0002-2278-2950
                Article
                32341
                10.3105310.31053/1853.0605.v78.n3.32341
                8760903
                34617706
                a436d819-db51-4404-97f9-8eded8e9afba

                Esta obra está bajo una licencia internacional Creative Commons Atribución-NoComercial 4.0.

                History
                : 04 March 2021
                : 21 May 2021
                Page count
                Figures: 2, Tables: 0, Equations: 0, References: 15, Pages: 4
                Categories
                Originales Breves

                amiloidosis,glándulas salivales,biopsia,amyloidosis,salivary glands,biopsy,amiloidose,glândulas salivares,biópsia

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