Caracterización clínica de pacientes chilenos con displasia fibrosa/síndrome de McCune-Albright / Clinical features of Chilean patients with Fibrous Dysplasia/McCune-Albright Syndrome

BACKGROUND: Fibrous Dysplasia/McCune-Albright Syndrome (FD/MAS) is characterized by a spectrum of manifestations that may include fibrous dysplasia of bone and multiple endocrinopathies. AIM: To describe the clinical spectrum, the study and follow-up of patients with FD/MAS cared at our institution. MATERIAL AND METHODS: Review of medical records of 12 pediatric and adult patients (11 women) who met the clinical and genetic diagnostic criteria for FD/ MAS. RESULTS: The patients' mean age at diagnosis was 4.9 ± 5.5 years. The most common initial clinical manifestation was peripheral precocious puberty (PPP) in 67% of patients and 75% had café-au-lait spots. Fibrous dysplasia was present in 75% of patients and the mean age at diagnosis was 7.9 ± 4.7 years. Ten patients had a bone scintigraphy, with an age at the first examination that varied between 2 and 38 years of age. The most frequent location of dysplasia was craniofacial and appendicular. No patient had a recorded history of cholestasis, hepatitis, or pancreatitis. In four patients, a genetic study was performed that was positive for the pathogenic variant of guanine nucleotide binding protein, alpha stimulating (GNAS). CONCLUSIONS: These patients demonstrate the variable nature of the clinical presentation and study of FD/MAS. It is essential to increase the index of diagnostic suspicion and adherence to international recommendations.

Pseudohipoparatiroidismo de presentación tardía: reporte de dos casos / Pseudohypoparathyroidism: report of two cases of late presentation

Pseudohypoparathyroidism (PHP) is a group of rare genetic disorders that share organ targeted resistance to the action of parathyroid hormone (PTH) as a common feature. Biochemically, they may present with hypocalcemia, hyperphosphatemia and elevated PTH. Some forms present with a specific phenotype: short stature, round facies, short neck, obesity, brachydactyly and subcutaneous calcifications, called Albrigth's Hereditary Osteodystrophy (AHO). This spectrum of disorders are caused by several alterations in the gene coding for the alpha subunit of the G protein (GNAS): an ubiquitous signaling protein that mediates the action of numerous hormones such as PTH, TSH, gonadotropins, and ACTH, among others. According to their inheritance with maternal or paternal imprinting, they may manifest in a diversity of clinical forms. Although most commonly diagnosed during childhood, PHP may manifest clinically during adolescence or early adulthood. We report two late presenting cases of pseudohypoparathyroidism. A 21-year-old female with biochemical abnormalities characteristic of pseudohypoparathyroidism who was misdiagnosed as epilepsy and a 13-year-old boy with the classic AHO phenotype but without alterations in phospho-calcium metabolism, compatible with pseudopseudohypoparathyrodism.

Cómo interpretar guías de práctica clínica elaboradas con metodología GRADE / Clinical guidelines using the GRADE system (Grading of Recommendations Assessment, Development and Evaluation)

The Ministry of Health of Chile, aiming to improve the quality of clinical practice guidelines, gradually incorporated the GRADE system (Grading of Recommendations, Assessment, Development and Evaluation) to develop evidence based recommendations. This system summarizes and evaluates the certainty of the available evidence. It moves from evidence to decision in a systematic and transparent manner, based on four main dimensions: balance between benefits and harms, certainty of evidence, patient's values and preferences and use of resources. The GRADE system produces strong and conditional recommendations. Strong recommendations provide confidence that the favorable consequences of an intervention clearly outweigh the adverse consequences, or vice versa. These recommendations apply to a broad range of patients and circumstances. Conditional recommendations, however, indicate that there is a close balance between favorable and unfavorable consequences of the intervention, there is uncertainty in the magnitude of benefits or adverse effects, there is uncertainty or variability in values and preferences of individuals or costs are not justified. These recommendations apply to many patients, but not all of them: ideally they should be discussed with each person. To achieve a better implementation of the recommendations made with GRADE methodology, health professionals should know the meaning of strong and conditional recommendations and they should be able to critically assess of them.

Guías de práctica clínica: estudio cualitativo sobre su implementación en el sistema de salud de Chile / Clinical practice guidelines: qualitative study of their implementation in the Chilean health system / Guias de prática clínica: estudo qualitativo sobre sua implementação no sistema de saúde do Chile

RESUMEN Objetivo Caracterizar el proceso de implementación, barreras y facilitadores de recomendaciones basadas en evidencia en el contexto del desarrollo de guías prácticas clínicas (GPC) generadas por el Ministerio de Salud de Chile, a fin de brindar propuestas para la optimización del proceso. Métodos Estudio cualitativo del tipo “investigación-acción”. Se realizaron 19 entrevistas semiestructuradas y se armaron nueve grupos de discusión a distintos niveles del sistema público de salud chileno. El análisis se realizó mediante el software Atlas ti® y en forma manual, desde un marco de análisis de contenido, mediante la categorización y codificación de la información según dimensiones preespecificadas y con la inclusión de categorías emergentes cuando fue pertinente. Resultados El principal desafío de implementación de recomendaciones mencionado es la falta de un proceso explícito y estructurado. Los actores del sistema de salud reconocen dificultades dependientes del contexto al momento de usar las recomendaciones. En esta experiencia inédita de revisión institucional, los participantes sugirieron una serie de estrategias a poner en práctica para superar dichos desafíos, representadas en un flujograma de gestión optimizada para el desarrollo e implementación de GPC. El mismo proceso ha permitido tomar conciencia de la importancia de la implementación de GPC en Chile. Conclusión Tras caracterizar el proceso de implementación, barreras y facilitadores se articuló un plan de implementación de recomendaciones que permitiría orientar y monitorizar dicho proceso. Hacer partícipes del proceso de revisión a informantes claves dentro y fuera del Ministerio de Salud facilitaría la implementación de estrategias y la introducción de mejoras al proceso de desarrollo de GPC. Estudios de este tipo deberían ser realizados en médicos y pacientes para complementar la información recogida.

ABSTRACT Objective Characterize the implementation process, barriers, and facilitators of evidence-based recommendations in the context of developing clinical practice guidelines (CPGs) generated by the Ministry of Health of Chile, in order to make proposals to optimize the process. Methods Qualitative “action-oriented research” study. Nineteen semi-structured interviews were conducted and nine discussion groups were organized at various levels of the Chilean public health system. The analysis was conducted using Atlas.ti® software and manually, in a content analysis framework, by categorizing and coding information according to pre-specified dimensions and with the inclusion of emerging categories where relevant. Results The main challenge mentioned with regard to implementing recommendations is the lack of an explicit and structured process. Actors in the health system recognize difficulties specific to the context in which the recommendations are followed. In this unprecedented institutional review, participants suggested a series of strategies that could be implemented to overcome these challenges, presented in a management flow chart optimized for the development and implementation of CPGs. This process has raised awareness of the importance of implementing CPGs in Chile. Conclusion After characterizing the implementation process, barriers, and facilitators, a plan to implement recommendations was developed in order to guide and monitor the process. It would facilitate the implementation of strategies and the introduction of improvements to the CPG development process if key informants inside and outside of the Ministry of Health were included in the review process. Studies of this kind should be conducted with physicians and patients in order to complement the collected information.

RESUMO Objetivo Caracterizar o processo de implementação, as barreiras e os fatores facilitadores de recomendações baseadas em evidências no contexto do desenvolvimento de guias de prática clínica (GPCs) criados pelo Ministério da Saúde do Chile, a fim de fazer propostas para a otimização do processo. Métodos Estudo qualitativo do tipo “investigação-ação”. Foram realizadas 19 entrevistas semiestruturadas e organizados nove grupos de discussão em diferentes níveis do sistema público de saúde chileno. A análise foi realizada com o software Atlas ti® e de forma manual utilizando um quadro de análise de conteúdo, mediante a categorização e codificação das informações segundo dimensões pré-especificadas e com a inclusão de categorias emergentes, quando pertinente. Resultados O principal desafio identificado para a implementação das recomendações foi a falta de um processo explícito e estruturado. Os atores do sistema de saúde reconhecem dificuldades dependentes do contexto no momento de usar as recomendações. Nesta experiência inédita de revisão institucional, os participantes sugeriram uma série de estratégias que podem ser postas em prática para superar tais desafios, representadas em um fluxograma de gestão otimizada para o desenvolvimento e a implementação dos GPCs. O mesmo processo tem gerado conscientização sobre a importância da implementação de GPCs no Chile. Conclusão Uma vez caracterizado o processo de implementação, as barreiras e os fatores facilitadores, articulou-se um plano de implementação de recomendações que permitirá orientar e monitorar esse processo. O envolvimento de informantes-chave dentro e fora do Ministério da Saúde no processo de revisão poderá facilitar a implementação de estratégias e a introdução de melhorias no processo de desenvolvimento de GPCs. É preciso realizar estudos deste tipo com médicos e pacientes para complementar as informações coletadas.

Cáncer gástrico avanzado / Advanced gastric cancer

En este trabajo se presentan los aspectos clínicos, diagnósticos y de tratamiento del cáncer gástrico. Se estudiaron todos los pacientes ingresados con el diagnóstico de cáncer gástrico avanzado observados durante 6 años. En esta serie se analizan sólo los cánceres avanzados (n = 162). La edad promedio fue de 56.7 años (rango 32-81 años), 129 pacientes (76,9%) eran hombres y 33 mujeres (20,4%). El diagnóstico se sospechó en la primera consulta en 67 casos (53,7%). Transcurrió un promedio de 9,9 meses entre la aparición de los síntomas y el diagnóstico de certeza. Entre los exámenes, la radiología se utilizó sólo en 103/162 pacientes (90,2%) con un rendimiento de un 88,3%. Se tomaron biopsias en sólo 130 de los 146 pacientes sometidos a endoscopía (70,5%), confirmándose el diagnóstico por histología en un 83,5% de los casos. No fueron operados 18 pacientes (11,1%). De los sometidos a cirugía en 80/144 (49,4%) se efectuó sólo una laparotomía exploradora. En 29 pacientes (17,9%) se efectuó algún procedimiento paliativo. La resección curativa fue posible sólo en 35 pacientes (21,6%). En 28 (80%) se efectuó una gastrectomía total y en 7 (20%) una gastrectomía distal con una mortalidad operatoria de un 14,3%. La mayoría de los pacientes portadores de un cáncer gástrico consultan en forma tardía. Existen dificultades para la obtención de algunos exámenes diagnósticos y aunque el rendimiento es aceptable puede ser mejorado. Aproximadamente 4/5 de los pacientes no tienen posibilidades de curación al momento del diagnóstico. El pronóstico de esta patología puede mejorar sólo al implementar medidas para la pesquisa y tratamiento de cáncer gástrico en sus primeras etapas. Los resultados inmediatos del tratamiento quirúrgico son satisfactorios