RESUMEN
Thyroid dysfunction has been reported in association with several chronic diseases, including advanced liver disease. â¢The bundle discussed here is aimed at proposing systematic assistance according to the best evidence-based practices available. â¢The process of constructing and validating the bundle was carried out in the following stages: a) bibliographic survey; b) bundle elaboration; and c) content validation. â¢The bundle was considered valid to facilitate medical decision making, aiding physicians to manage, in a practical and effective manner, the thyroid function of patients with liver cirrhosis. Background - Thyroid dysfunction has been reported in association with several chronic diseases, including advanced liver disease. This disease and its management are often neglected in clinical practice. The bundle discussed here is aimed at proposing systematic assistance according to the best evidence-based practices available. Objective - To construct and validate a bundle to evaluate thyroid function in patients with liver cirrhosis. Methods - The process of constructing and validating the bundle was carried out in the following stages: a) bibliographic survey; b) bundle elaboration; and c) content validation. The bibliographic survey was carried out in an integrative review about evidence related with the thyroid function of patients with liver cirrhosis. The findings from the integrative review were considered as supporting evidence for the elaboration of the bundle. The tool then created used accessible language and was evidence-based, ensuring that information was based on current literature. Results - The bundle was restructured to provide guidance on the management of patients with liver dysfunctions, including: cirrhosis due to general causes, cirrhosis due to hepatitis C, non-alcoholic fatty liver disease, primary biliary cholangitis, and hepatocellular carcinoma. The orientations in the bundle included: exams to be requested to screen for thyroid disorders, and guidance about the treatment of these dysfunctions and their associated complications. We analyzed specialist evaluation of the bundle using the Content Validity Index (CVI). We carried out a binomial test to evaluate consistency and specialist agreement regarding the items in the bundle, considering values >0.61 as a good level. The items in the bundle were considered to be valid (CVI >0.80). The general CVI of the instrument was 0.95 (CI95%: 0.91-0.98). Conclusion - The bundle was considered valid to facilitate medical decision making, aiding physicians to manage, in a practical and effective approach, the thyroid function of patients with liver cirrhosis. This tool should not be used as a replacement for individual, evaluation of the physician providing assistance. We recommend the structured bundle to be added to medical practice, considering its simple application, low cost, and potential to contribute for the management of these patients.
Asunto(s)
Carcinoma Hepatocelular , Neoplasias Hepáticas , Humanos , Glándula Tiroides/patología , Cirrosis Hepática/patología , Carcinoma Hepatocelular/patología , Neoplasias Hepáticas/patología , Enfermedad CrónicaRESUMEN
ABSTRACT Background: Thyroid dysfunction has been reported in association with several chronic diseases, including advanced liver disease. This disease and its management are often neglected in clinical practice. The bundle discussed here is aimed at proposing systematic assistance according to the best evidence-based practices available. Objective: To construct and validate a bundle to evaluate thyroid function in patients with liver cirrhosis. Methods: The process of constructing and validating the bundle was carried out in the following stages: a) bibliographic survey; b) bundle elaboration; and c) content validation. The bibliographic survey was carried out in an integrative review about evidence related with the thyroid function of patients with liver cirrhosis. The findings from the integrative review were considered as supporting evidence for the elaboration of the bundle. The tool then created used accessible language and was evidence-based, ensuring that information was based on current literature. Results: The bundle was restructured to provide guidance on the management of patients with liver dysfunctions, including: cirrhosis due to general causes, cirrhosis due to hepatitis C, non-alcoholic fatty liver disease, primary biliary cholangitis, and hepatocellular carcinoma. The orientations in the bundle included: exams to be requested to screen for thyroid disorders, and guidance about the treatment of these dysfunctions and their associated complications. We analyzed specialist evaluation of the bundle using the Content Validity Index (CVI). We carried out a binomial test to evaluate consistency and specialist agreement regarding the items in the bundle, considering values >0.61 as a good level. The items in the bundle were considered to be valid (CVI >0.80). The general CVI of the instrument was 0.95 (CI95%: 0.91-0.98). Conclusion: The bundle was considered valid to facilitate medical decision making, aiding physicians to manage, in a practical and effective approach, the thyroid function of patients with liver cirrhosis. This tool should not be used as a replacement for individual, evaluation of the physician providing assistance. We recommend the structured bundle to be added to medical practice, considering its simple application, low cost, and potential to contribute for the management of these patients.
RESUMO Contexto: A disfunção tireoidiana tem sido relatada em associação com várias doenças crônicas, incluindo a doença hepática avançada. O seu reconhecimento e manejo são, muitas vezes, negligenciados na prática clínica. O bundle consiste em um pacote de cuidados, com a finalidade de promover a assistência de forma sistematizada, a partir da melhor prática baseada em evidências. Objetivo: Construir e validar um bundle para avaliação da função tireoidiana em pacientes com cirrose hepática. Métodos: O processo de construção e validação do bundle foi realizado a partir das seguintes etapas: a) levantamento bibliográfico; b) elaboração do bundle; e c) validação do conteúdo. O levantamento bibliográfico foi realizado a partir de revisão integrativa sobre as evidências relacionadas à função tireoidiana em pacientes com cirrose hepática. Os achados encontrados na revisão integrativa foram considerados como subsídios para construção do bundle. A ferramenta construída se baseou em evidências científicas, de forma a garantir informação pautada em literatura atual e com linguagem acessível. Resultados: O bundle foi estruturado com base nas seguintes finalidades: fornecer orientações sobre o manejo de pacientes com disfunção hepática, categorizado por: cirrose por causas gerais, cirrose por vírus da hepatite C, doença hepática gordurosa não alcoólica, colangite biliar primária e carcinoma hepatocelular. As orientações do bundle incluíram: exames a serem solicitados no rastreio dos distúrbios tireoidianos; orientações sobre indicação de tratamento destas disfunções e possíveis complicações associadas. A análise da avaliação do bundle pelos especialistas foi realizada a partir do cálculo do Índice de Validade do Conteúdo (IVC). Foi feito o cálculo do teste binomial para avaliar a concordância e consistência dos especialistas em relação aos itens do bundle, aceitando-se como bom nível o valor >0,61. Os itens do bundle foram considerados validados (IVC >0,80). O instrumento apresentou IVC geral de 0,95 (IC95%: 0,91-0,98). Conclusão: O bundle foi considerado válido para facilitar a tomada de decisão para o médico conduzir, de maneira prática e efetiva, o manejo da função tireoidiana em pacientes com cirrose hepática. Defende-se que a ferramenta não deve ser utilizada em substituição à avaliação individualizada e autonomia do médico assistente. Recomenda-se que a forma estruturada seja incorporada ao atendimento médico tendo em vista a fácil aplicabilidade, o baixo custo e o potencial para contribuir com o manejo desses pacientes.
RESUMEN
ABSTRACT Objective: Initial diagnosis of medullary thyroid carcinoma (MTC) is frequently associated with advanced stages and a poor prognosis. Thus, the need for earlier diagnoses and detection in relatives at risk for the disease has led to increased use of RET genetic screening. Subjects and methods: We performed RET screening in 247 subjects who were referred to the Brazilian Research Consortium for Multiple Endocrine Neoplasia (BRASMEN) Center in the State of Ceará. Direct genetic sequencing was used to analyze exons 8, 10, 11, and 13-16 in MTC index cases and specific exons in at risk relatives. Afterward, clinical follow-up was offered to all the patients with MTC and their affected relatives. Results: RET screening was performed in 60 MTC index patients and 187 at-risk family members. At the initial clinical assessment of the index patients, 54 (90%) were diagnosed with apparently sporadic disease and 6 (10%) diagnosed with hereditary disease. After RET screening, we found that 31 (52%) index patients had sporadic disease, and 29 (48%) had hereditary disease. Regarding at-risk relatives, 73/187 were mutation carriers. Mutations in RET codon 804 and the rare p.M918V mutation were the most prevalent. Conclusions: Performing RET screening in Ceará allowed us to identify a different mutation profile in this region compared with other areas. RET screening also enabled the diagnosis of a significant number of hereditary MTC patients who were initially classified as sporadic disease patients and benefited their relatives, who were unaware of the risks and the consequences of bearing a RET mutation.
Asunto(s)
Humanos , Masculino , Femenino , Adolescente , Adulto , Persona de Mediana Edad , Anciano , Anciano de 80 o más Años , Adulto Joven , Neoplasias de la Tiroides/diagnóstico , Neoplasias de la Tiroides/genética , Mutación de Línea Germinal/genética , Carcinoma Neuroendocrino/diagnóstico , Carcinoma Neuroendocrino/genética , Proteínas Proto-Oncogénicas c-ret/genética , Tamización de Portadores Genéticos/métodos , Factores de Tiempo , Brasil , Neoplasias de la Tiroides/patología , Inmunohistoquímica , Transfección/métodos , Reordenamiento Génico/genética , Reproducibilidad de los Resultados , Factores de Riesgo , Factores de Edad , Carcinoma Neuroendocrino/patología , Medición de Riesgo , Detección Precoz del Cáncer , Estudios de Asociación GenéticaRESUMEN
OBJECTIVE: Initial diagnosis of medullary thyroid carcinoma (MTC) is frequently associated with advanced stages and a poor prognosis. Thus, the need for earlier diagnoses and detection in relatives at risk for the disease has led to increased use of RET genetic screening. SUBJECTS AND METHODS: We performed RET screening in 247 subjects who were referred to the Brazilian Research Consortium for Multiple Endocrine Neoplasia (BRASMEN) Center in the State of Ceará. Direct genetic sequencing was used to analyze exons 8, 10, 11, and 13-16 in MTC index cases and specific exons in at risk relatives. Afterward, clinical follow-up was offered to all the patients with MTC and their affected relatives. RESULTS: RET screening was performed in 60 MTC index patients and 187 at-risk family members. At the initial clinical assessment of the index patients, 54 (90%) were diagnosed with apparently sporadic disease and 6 (10%) diagnosed with hereditary disease. After RET screening, we found that 31 (52%) index patients had sporadic disease, and 29 (48%) had hereditary disease. Regarding at-risk relatives, 73/187 were mutation carriers. Mutations in RET codon 804 and the rare p.M918V mutation were the most prevalent. CONCLUSIONS: Performing RET screening in Ceará allowed us to identify a different mutation profile in this region compared with other areas. RET screening also enabled the diagnosis of a significant number of hereditary MTC patients who were initially classified as sporadic disease patients and benefited their relatives, who were unaware of the risks and the consequences of bearing a RET mutation.