Guía de práctica clínica multidisciplinar española sobre la enfermedad de Anderson-Fabry en adultos. I: Método y recomendaciones / Spanish multidisciplinary clinical practice guidelines for Anderson-Fabry Disease in Adults. I. Method and recommendations

La enfermedad de Anderson-Fabry es una afección multisistémica progresiva y grave de origen genético que afecta tanto a hombres como a mujeres y que reduce sus expectativas y calidad de vida. La gran variabilidad en su expresión clínica, las dificultades para su diagnóstico y la disponibilidad actual de varias alternativas para su tratamiento suponen un gran reto que justifica la realización de una guía de práctica clínica basada en la evidencia que pueda ayudar a los profesionales sanitarios en la toma de decisiones en el manejo de estos pacientes. Para elaborarla se ha realizado una búsqueda sistemática en las principales bases de datos bibliográficas mediante estrategias adaptadas a cada una de las 32 preguntas clínicas consideradas. Se confeccionaron fichas para la síntesis y evaluación de la calidad de las evidencias para cada una de las preguntas. La metodología empleada se basa en el Manual metodológico español para la elaboración de guías de práctica clínica e incorpora en la evaluación de la evidencia científica y en la elaboración de las recomendaciones la metodología GRADE, considerando la calidad de la evidencia, el balance entre beneficios y riesgos, valores y preferencias de los pacientes, equidad y uso de recursos. Para la elaboración definitiva de las recomendaciones se llevó a cabo un proceso de consenso estructurado basado en la metodología Delphi-RAND en 2 rondas, con un panel de expertos propuesto por diferentes sociedades científicas, centros de investigación y asociaciones de pacientes. Finalmente, se han elaborado 92 recomendaciones específicas para el manejo de la enfermedad de Fabry

Anderson-Fabry disease is a severe progressive multisystem condition of genetic origin that affects men and women, reducing their life expectancy and quality of life. The considerable variability in its clinical expression, the difficulties in diagnosing the condition and the current availability of several alternatives for its treatment represent a considerable challenge that justifies the development of evidence-based clinical practice guidelines that can help health professionals in the decision-making process for managing these patients. To develop these guidelines, we conducted a systematic search of the main reference databases using strategies adapted to each of the 32 clinical questions considered. We prepared documents to synthesise the evidence and assess its quality for each of the questions. The methodology employed is based on the Spanish methodology manual for preparing clinical practice guidelines, incorporating the GRADE methodology in the assessment of the scientific evidence and the preparation of the recommendations, considering the quality of the evidence, the risk-benefit balance, patient values and preferences, equity and use of resources. For the definitive preparation of the recommendations, we conducted a structured consensus process based on the Delphi-RAND methodology in 2 rounds, with an expert panel proposed by various scientific societies, research centres and patient associations. Ultimately, we developed 92 specific recommendations for managing Fabry disease

Spanish multidisciplinary clinical practice guidelines for Anderson-Fabry Disease in Adults. I. Method and recommendations. / Guía de práctica clínica multidisciplinar española sobre la enfermedad de Anderson-Fabry en adultos. I: Método y recomendaciones.

Anderson-Fabry disease is a severe progressive multisystem condition of genetic origin that affects men and women, reducing their life expectancy and quality of life. The considerable variability in its clinical expression, the difficulties in diagnosing the condition and the current availability of several alternatives for its treatment represent a considerable challenge that justifies the development of evidence-based clinical practice guidelines that can help health professionals in the decision-making process for managing these patients. To develop these guidelines, we conducted a systematic search of the main reference databases using strategies adapted to each of the 32 clinical questions considered. We prepared documents to synthesise the evidence and assess its quality for each of the questions. The methodology employed is based on the Spanish methodology manual for preparing clinical practice guidelines, incorporating the GRADE methodology in the assessment of the scientific evidence and the preparation of the recommendations, considering the quality of the evidence, the risk-benefit balance, patient values and preferences, equity and use of resources. For the definitive preparation of the recommendations, we conducted a structured consensus process based on the Delphi-RAND methodology in 2 rounds, with an expert panel proposed by various scientific societies, research centres and patient associations. Ultimately, we developed 92 specific recommendations for managing Fabry disease.

Consensus method to update the GINF formulary request form

Objective: To update the Guideline for the Introduction of New Drugs in the Formulary (GINF form) using the RAND/UCLA appropriateness method, which combines the best available evidence and an expert panel’s judgement. Study Design/Methods: Two procedures were employed to detect where improvements could be made to the former versions of the request form and to transform them into concrete scenarios, found from a telephone survey with GINF form users, and a structured review of the scientific literature. The list of scenarios was later assessed by an expert panel. In a series of successive rounds, the rest of the research team critically assessed the expert panel’s result, applying a score. Results: A total of 52 improvement proposals were registered; 31 of them dealt with the form structure and the remaining 21 referred to the form process. Six formulary request forms were selected from the literature review. The final version included 24 assessed scenarios mainly addressing clinical trials’ validity, qualitative assessment and local implications of the requested drug. Conclusions: A new version of the GINF form has been developed. Much improvement has been made based on the guide users’ opinion, available evidence and similar experiences that have been carried out internationally. The whole process has been subject to the experts’ opinion following a contrasted, consensus methodology: RAND/UCLA appropriateness method (AU)

Objetivo: Diseñar una nueva versión de la Guía para la Introducción de Nuevos Fármacos (GINF), ˜utilizando para ello la metodología RAND/UCLA sobre el uso adecuado, que combina la mejor evidencia disponible con el juicio de un panel de expertos. Diseño del estudio/métodos: ˜ Se emplearon 2 procedimientos para detectar oportunidades de mejora de las versiones anteriores de la guía, que fueron transformadas en escenarios concretos: una encuesta telefónica a usuarios de la GINF, y una revisión estructurada de la literatura científica. Esta lista de escenarios fue evaluada por un panel de expertos mediante rondas sucesivas. El resto del equipo de investigación evaluó críticamente el resultado del panel de expertos. Resultados: Se registraron 52 propuestas de mejora, 31 de ellas se refieren a la estructura de la guía y las 21 restantes se refieren al procedimiento de utilización de la guía. En cuanto a la búsqueda bibliográfica, 6 de las guías de inclusión de nuevos medicamentos fueron seleccionadas. La versión final incluyó 24 de los escenarios propuestos orientados principalmente a la validez del ensayo clínico, la evaluación cualitativa y las consecuencias locales del fármaco solicitado. Conclusiones: La nueva versión de la guía GINF llevada a cabo incluye muchas mejoras extraídas tanto de la opinión de los usuarios de guía como de la mejor evidencia disponible y las experiencias similares que se han llevado a cabo a nivel internacional. Todo el proceso ha sido sometido a la opinión de los expertos tal como indica la metodología de consenso RAND/UCLA (AU)

Consensus method to update the GINF formulary request form.

OBJECTIVE: To update the Guideline for the Introduction of New Drugs in the Formulary (GINF form) using the RAND/UCLA appropriateness method, which combines the best available evidence and an expert panel's judgement. STUDY DESIGN/METHODS: Two procedures were employed to detect where improvements could be made to the former versions of the request form and to transform them into concrete scenarios, found from a telephone survey with GINF form users, and a structured review of the scientific literature. The list of scenarios was later assessed by an expert panel. In a series of successive rounds, the rest of the research team critically assessed the expert panel's result, applying a score. RESULTS: A total of 52 improvement proposals were registered; 31 of them dealt with the form structure and the remaining 21 referred to the form process. Six formulary request forms were selected from the literature review. The final version included 24 assessed scenarios mainly addressing clinical trials' validity, qualitative assessment and local implications of the requested drug. CONCLUSIONS: A new version of the GINF form has been developed. Much improvement has been made based on the guide users' opinion, available evidence and similar experiences that have been carried out internationally. The whole process has been subject to the experts' opinion following a contrasted, consensus methodology: RAND/UCLA appropriateness method.

[Implementation of the guidelines for the introduction of new drugs (GINF) in Andalusian hospitals]. / Implantación de la guía para la incorporación de nuevos fármacos (GINF) en los hospitales andaluces.

OBJECTIVE: To measure the level of implementation of the GINF (guidelines for the introduction of new drugs) in Andalusian hospitals, describe the characteristics of this implementation and analyse if any of the hospital s dependent variables could influence these characteristics. METHOD: A telephone survey was carried out in the hospitals included in the Department of Health list. The survey consisted of 11 closed questions on different variables in the hospital and the GINF use profile, and an open question about the improvements carried out and proposals for improvement. The results were analysed according to the type of hospital (category, training, geographical location) in order to detect possible differences. RESULTS: A target population of 31 hospitals was identified. The survey was carried out in 29 of these; the level of implementation was 96.5% in the responding hospitals. 23 hospitals used the GINF for 100% of drugs, 6 had carried out local modifications and 80% made proposals for improvement. Significant differences were found in the implementation of the GINF according to resident/intern pharmacist training (p = 0.049), the geographical location (p = 0.004) and the hospital category (p < 0.001). CONCLUSIONS: The GINF have been implemented in almost all public Andalusian hospitals as the guidelines for requesting new drugs. Very few local modifications have been carried out to the guidelines, although numerous proposals for improvement have been made. Differences in use have been identified (No. of drugs, different versions) according to the hospital characteristics (location, training and complexity classification). They are considered a useful tool and influence the drug selection process, in particular in training hospitals with a higher classification.

Implantación de la guía para la incorporación de nuevos fármacos (GINF) en los hospitales andaluces / No disponible

Objetivo: Medir el grado de implantación de la guía GINF enlos hospitales andaluces, describir las características de dichaimplantación y analizar si algunas variables dependientes del hospitalpudieran influir en las mismas.Método: Se realizó una encuesta telefónica a los hospitalesincluidos en catálogo de la Consejería de Salud. La encuesta constabade 11 cuestiones cerradas sobre diferentes variables del hospitaly del perfil de utilización de la GINF, y una cuestión abiertaque recogía mejoras realizadas y propuestas de mejora. Se analizaronlos resultados en función del tipo de hospital (categoría, docencia,localización geográfica) para detectar posibles diferencias.Resultados: Se identificó una población diana de 31 hospitales.La encuesta pudo realizarse en 29; el grado de implantaciónfue del 96,5% en los hospitales respondedores. Veintitrés hospitalesutilizaban la GINF para el 100% de los fármacos, seis habíanrealizado modificaciones locales pero el 80% realizó propuestasde mejora. Se encontraron diferencias significativas en la implantaciónde la GINF en función de la docencia FIR (p = 0,049), lalocalización geográfica (p = 0,004) y la categoría de los hospitales(p < 0,001).Conclusiones: La guía GINF ha sido implantada en la prácticatotalidad de los hospitales públicos andaluces para la solicitudde nuevos fármacos. La guía apenas ha sido modificada localmente,aunque se recogen numerosas propuestas de mejora. Se identificandiferencias en su utilización (número de fármacos, diferentesversiones) en función de las características del hospital (localización,docencia y complejidad). Es considerada una herramientaútil e influyente en el proceso de selección de medicamentos,sobre todo en los hospitales docentes de mayor complejidad

Objective: To measure the level of implementation of theGINF (guidelines for the introduction of new drugs) in Andalusianhospitals, describe the characteristics of this implementation andanalyse if any of the hospital’s dependent variables could influencethese characteristics.Method: A telephone survey was carried out in the hospitalsincluded in the Department of Health list. The survey consisted of11 closed questions on different variables in the hospital and theGINF use profile, and an open question about the improvementscarried out and proposals for improvement. The results wereanalysed according to the type of hospital (category, training, geographicallocation) in order to detect possible differences.Results: A target population of 31 hospitals was identified.The survey was carried out in 29 of these; the level of implementationwas 96.5% in the responding hospitals. 23 hospitals usedthe GINF for 100% of drugs, 6 had carried out local modificationsand 80% made proposals for improvement. Significant differenceswere found in the implementation of the GINF according toresident/intern pharmacist training (p = 0.049), the geographicallocation (p = 0.004) and the hospital category (p < 0.001).Conclusions: The GINF have been implemented in almost allpublic Andalusian hospitals as the guidelines for requesting newdrugs. Very few local modifications have been carried out to theguidelines, although numerous proposals for improvement havebeen made. Differences in use have been identified (No. of drugs,different versions) according to the hospital characteristics (location,training and complexity classification). They are considered auseful tool and influence the drug selection process, in particularin training hospitals with a higher classification

Rehabilitación respiratoria: aproximación a la situación en España / Respiratory rehabilitation: situation in Spain

Objetivo. Estimar la implantación y la coberturade los programas de rehabilitación respiratoria en el sistemasanitario público español, describir las características delos programas existentes y explorar las barreras para la ampliaciónde su implantación.Métodos. Se realizó una entrevista semiestructurada, caraa cara, a seis informadores clave, elegidos por destacar comoinvestigadores en el campo de la rehabilitación respiratoria ocomo representantes de las sociedades científicas, siendoclínicos al mismo tiempo.Resultados. Los informadores clave están de acuerdo enque la rehabilitación respiratoria entendida como fisioterapiarespiratoria está bien difundida por los hospitales de primernivel y que se dirige principalmente a pacientes con enfermedadpulmonar obstructiva crónica (EPOC). Sin embargo,sólo una minoría de centros públicos incluye en el programade rehabilitación el entrenamiento al esfuerzo, que es el componentede beneficio mejor demostrado y la rehabilitaciónrespiratoria sólo llega a una pequeña proporción de los pacientesque la necesitan. La enseñanza de técnicas de relajacióny el apoyo para dejar de fumar no son constantes.Conclusiones. Actualmente, la atención al paciente conEPOC, con una correcta rehabilitación respiratoria, está lejosde quedar garantizada en el sistema sanitario público español

Objective. To consider the implantation andthe cover of the programs of respiratory rehabilitation in theSpanish Health System; to describe the characteristics ofthe existing programs and to explore the barriers for theextension them. Methods. Semistructured interview, to six key informants,chosen by prestige criteria in the field of the respiratory rehabilitationresearch or by the scientific societies, being clinicalat the same time.Results. The informants agree in which the respiratory fisiotherapyas a component of RR programs is extended bythe first level hospitals and that mainly goes to patients withchronic obstructive pulmonary disease (COPD). Nevertheless,the exercise training, the more effective intervention, isinclude in only a minority of public centers (hospitals) withrehabilitation program, and only a small proportion of the patientswho need RR are provided. The relax techniques andthe smoking cessation support are not always included.Conclusions. At the moment, the attention to the patientwith COPD with a correct respiratory rehabilitation is farfrom being guaranteed in the Spanish Health System

Síndrome de Sjögren y gestación. A propósito de un caso / Sjörgren syndrome and gestation. A case study

En este artículo hablamos del síndrome de Sjögren, enfermedad autoinmune de etiología desconocida que cursa con una clínica muy diversa y que no tiene tratamiento específico, sólo sintomático. Presentamos el caso de una paciente gestante con esta enfermedad que le fue diagnosticada en la infancia y que tuvo un embarazo que cursó sin mayores complicaciones. La clínica preexistente no se exacerbó en el curso del embarazo y la enfermedad no influyó en el desarrollo de la gestación (AU)

Trasplante hepático y gestación. Revisión bibliográfica / Liver transplant and pregnancy. A bibliographical review

Durante los ultimos 10 años el transplante hepático ha experimentado un avance terapéutico sustancial en la mejora del tiempo de supervivencia y la calidad de vida en los pacientes con enfermedades hepáticas terminales. Actualmente, la supervivencia en estos pacientes es del 90% y 75-80% a los 5 y 10 años respectivamente después del trasplante (AU)

Porfiria aguda intermitente. Visión ginecoobstétrica / Acute intermitent porphyria.a gynaecological/obstetric view

La porfiria aguda intermitente (PAI) es la variedad más frecuente de porfiria entre las poblaciones del norte de Europa con una incidencia media de 1/200.000 habitantes. La prevalencia de la PAI y de otras porfirias agudas en los Estados Unidos, y en la mayoría de los países es de alrededor de 5/100.000, pudiendo ser más alta en poblaciones psiquiátricas. Según el gran porfirinólogo Gold-Berg, la prevalencia de portadores de PAI es aún mayor, siendo aproximadamente de 1/20.000; además, por su especial frecuencia en el norte de Suecia (1/10.000), es comúnmente denominada porfiria sueca. Es una enfermedad genética, autosómica dominante, caracterizada por una excesiva excreción de materias precursoras del grupo hem. De forma característica, cursa con crisis de dolor abdominal, síntomas gastrointestinales y alteraciones del sistema nervioso central que se manifiestan clínicamente después de la pubertad y con más frecuencia en mujeres; pueden ser desencadenadas por: anticonceptivos orales, embarazo, hiperemesis gravídica, estrógenos, progesterona y menstruación, fundamentalmente en la segunda mitad del ciclo, en lo que a nuestra especialidad concierne. Aunque existen otros factores desencadenantes de las crisis agudas60-64, como son: alcohol, infecciones, dietas, fármacos, etc (AU)

Vólvulo de divertículo de Meckel. Complicación poslaparoscopia. A propósito de un caso / Volvulus of a Meckel´s diverticulum. As a post-laparoscopic complication. A case study

Describimos un interesante caso de un vólvulo de divertículo de Meckel ocurrido tras una laparoscopia, para un bloqueo tubárico bilateral. Realizando una posterior revisión de la escasa bibliografía actual existente. (AU)

[Mapping the scientific evidence for bedside care to unstable angina. A preliminary step to develop clinical guidelines. The name of the study group CAMBIE Change in the Medical services based on the clinical practice guidelines]. / Mapa de evidencias para el tratamiento de la angina inestable en la cabecera del paciente. Etapa preliminar para el desarrollo de una guía de práctica clínica. Nombre del grupo del estudio CAMBIE (Cambio en la Actuación Médica Basado en la Información de Evaluación).

BACKGROUND: The uncertainty in clinical practice arise from the need of physicians to make decisions on a limited ground of knowledges. Guidelines are supposed to facilitate clinical decisions in such circumstances. Sharing knowledges on natural history of diseases and clinical expertise allow to define and array of steps structured on a formal flow-chart. The node of algorithms identifies decisions to analyze. This paper presents a taxonomy of specific questions related to each decision nodes for management of unstable angina and assesses the level of evidence available for each question. MATERIAL AND METHOD: A flow chart diagram display the conceptualized key nodes for clinical management of unstable angina. A set of specific question related to clinical exclusive circumstances, diagnostic approach, utility of diagnostic procedures, definition of prognosis and outcomes was raised for each decision node. From a systematic literature review the best available evidence was gathered. Each recommendation was linked to a level (A-C) of evidence, and to a body of consensus expert panel decisions. RESULTS: 34 decision nodes were identified, related with at least 1 question for appraisal of the best evidence. The solution to these questions yielded 40 recommendations scored by the strength of the evidence available. Five recommendations of diagnostic, 20 at prognostic and 15 at therapeutic step. The strength of evidence was A for 73% of recommendations at therapeutic step versus 40% at the two other steps. CONCLUSIONS: A clinical complex problem can be displayed in a continuous process, to allow identification and appraisal of decisions at different clinical nodes. The work-up to achieve a conceptualization of a clinical problem is the preliminary step to develop clinical practice guidelines. Identification of decision nodes allows to manage uncertainty in a explicit way and make policy statement more acceptable by managers and physicians.

[A reproducibility and validity study of a systematic review on ischemic cardiopathy. The Study Group of the Quality of Care (GRECA)]. / Estudio de la reproducibilidad y validez de una revisión sistemática sobre cardiopatía isquémica. Grupo de Estudio de la Calidad Asistencial (GRECA).

BACKGROUND: The systematic literature reviews have been proposed as a method of scientific evidence identification since they protect the final product from the subjectivity of each primary source reviewer. However, it is not known whether the different ways of evidence synthesis accomplish suitable criteria of objectivity, reliability and biases protection so as to be considered scientifically valid. An experiment of reliability and validity of a systematic literature review about coronary heart disease was carried out. MATERIAL AND METHODS: Study of blind concordance between two independent reviewers for the identification, selection, retrieval and quality evaluation of the articles by using the same protocol. The concordance was analysed by the kappa index for two observers in different categories. The validity was evaluated throughout the acceptability of the review users. RESULTS: The concordance for their identification capacity was poor although they used the same key words (869 versus 476). But the concordance improved when considering selection (26.6% versus 29.2%), retrieval (agreement = 76%) classification by kind of article (kappa = 0.60) and scoring by strength of the evidence (kappa = 0.87). The acceptability was high among review users. CONCLUSIONS: It would be assumed that, even under tight rules of performance, the systematic literature reviews are not completely protected against some biases which could damage their validity in a non easily controllable form. The implication of reviewers, experts in documentation and users of the literature, together with pilot studies performed previous to the review, seems to be the best way to yield better results.