Patient organizations

Aproximadamente a partir del año 2010, los usos terapéuticos del cannabis se han extendido en nuestras sociedades latinoamericanas. Dichas terapias se construyen mayormente en el ámbito doméstico y en redes por fuera de instituciones oficiales de salud. Así, la biomedicina tiende a subalternatizar cualquier saber-hacer alternativo al modelo médico hegemónico. Nuestro objetivo es describir cómo se produce saber-hacer popular en torno a los usos terapéuticos del cannabis, identificando las tensiones y diferencias con la biomedicina. Metodológicamente nos basamos en experiencias documentadas en investigaciones propias y de otres, para construir una descripción sobre ese saber-hacer popular en contraste con el biomédico. Nuestros resultados dan cuenta de las singularidades epistémicas, metodológicas y valorativas en la construcción de los usos terapéuticos del cannabis, acompañada de una negación autoridad epistémica y marginalización en la producción, circulación y reconocimiento sobre su valor terapéutico. Recurrimos al concepto de violencia epistémica como analizador para comprender dicho proceso violencia que en ocasiones puede abonar a una violencia institucional. Consideramos necesario visibilizar la violencia epistémica que impide el desarrollo de saberes, conocimientos y terapias alternativos que vienen a complementar y (re)crear, y no a reemplazar, formas de pensar e intervenir en el ámbito salud.  Palabras clave: Usos terapéuticos del cannabis. Sabe-hacer popular. Biomedicina. Violencia epistémica.

This paper examines the testing and the pricing of orphan drugs, e.g. drugs for patients suffering from rare diseases. Due to the small size of these populations, orphan molecules question established evidentiary practices, namely randomized controlled trials (RCT) and health technology assessments (HTA), driven by numbers and statistical reasoning. Drawing on the notions of "statactivism" (Bruno et al. 2014) and "evidence-based activism" (Rabeharisoa et al. 2014), this paper shows how stakeholders in the field of rare diseases come to test a variety of solutions, ranging from adapting RCT and HTA on the fringe, advocating for exceptional procedures, to recomposing RCT and HTA from within. These initiatives offer new insights into the pricing of orphan drugs as a testing device of who is accountable for the evaluation of these molecules, and of how rare diseases are made to count for society at large.

This paper examines the testing and the pricing of orphan drugs, e.g. drugs for patients suffering from rare diseases. Due to the small size of these populations, orphan molecules question established evidentiary practices, namely randomized controlled trials (RCT) and health technology assessments (HTA), driven by numbers and statistical reasoning. Drawing on the notions of “statactivism” (Bruno et al. 2014) and “evidence-based activism” (Rabeharisoa et al. 2014), this paper shows how stakeholders in the field of rare diseases come to test a variety of solutions, ranging from adapting RCT and HTA on the fringe, advocating for exceptional procedures, to recomposing RCT and HTA from within. These initiatives offer new insights into the pricing of orphan drugs as a testing device of who is accountable for the evaluation of these molecules, and of how rare diseases are made to count for society at large.

The purpose of this paper is to analyse the dynamics of problematization of ADHD in France and to understand how it emerged as a public issue in the last 15 years, drawing on the abundant production of reports related to the disorder during this period. Until the end of the 1990s, the massive lack of academics’ interest in ADHD, may have delayed its coming as an issue worth debating and enquiring about. As a consequence, ADHD emerged as a public issue in quite peculiar circumstances: -Firstly, the INSERM collective expertises on various disorders, in which ADHD surfaced as an unsettled condition, provided high visibility to international bodies of literature and brought in a biological-oriented conception of these disorders, opening up debates on their very nature. -Secondly, Hypersupers, the main French group of patients and families concerned with ADHD, took initiatives for assembling scientists and clinicians who manifested an interest in ADHD, though holding divergent views, an ...

The aim of this synthesized literature review is to provide an overview of patient-reported outcomes (PROs), a term we use to refer to both health outcomes reported directly by patients, and the tools used for their collection and measurement. Developed from the 2000s onwards, PROs have multiplied as their uses have diversified. We review approximately 50 articles authored by clinical researchers, public health physicians, and to a lesser extent, health economists, as well as approximately 10 practice guidelines distributed by public agencies, research consortia, and think tanks that develop PROs. The overview begins with descriptions of a few historical milestones that reveal the decisive role played by the FDA in the use of PROs when reviewing new treatments tested in clinical trials. These descriptions are followed by a formal definition of PROs that has now been adopted by most of the parties involved. The review continues with a focus on the different categories of PROs developed over the last two decades, well beyond the framework of clinical trials alone. Finally, it addresses recent debates on the capacity of PROs to collect and measure patient experiences, the methodological issues involved in the design of these tools, and in particular, the participation of patient organizations in the construction of PROs that better reflect the specific concerns of the people affected.

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Las Organizaciones No Gubernamentales (ONG´s) han generado una creciente atención debido a la importancia que sus participaciones han tenido en el ámbito político, económico y social en las naciones establecidas, donde han podido abordar problemas sociales más diversos y focalizados desenvolviéndose en entorno dinámico, de incertidumbre y de profundos cambios. En este contexto, esta investigación se trazó como objetivo analizar el comportamiento estratégico de una ONG; Fundahígado, antes y durante un entorno hiperinflacionario. La pregunta que guió esta investigación fue: ¿Cuáles han sido las estrategias implementadas por Fundahígado frente a un entorno de hiperinflación, durante el período 2014 – 2019? Para responder esa interrogante, se utilizó como estrategia de investigación el estudio de caso abordado a través de la Teoría Fundamentada, tomando como referencia documentos oficiales y entrevistas a miembros y exmiembros de la fundación. Se empleó como herramienta de análisis la Matriz FODA y el Mapa Estratégico de Kaplan y Norton (2004). Esta ONG ha llevado a cabo acciones que representan mejoras en su ámbito de acción, al ser analizadas derivan en un set de estrategias de tipo ofensivas, defensivas, adaptativas y de supervivencia que le permitieron hacer frente a condiciones de alta incertidumbre, como lo es el escenario hiperinflacionario venezolano.


Palabras claves: ONG, Hiperinflación, Incertidumbre, Estrategias.

Metapsiquiatría y Nuevas Teorías de la Democracia: Injusticia en la fijación del Modelo Ideal de Agente Epistémico
Análisis y propuesta de alternativas desde la epistemología social y la revisión crítica del DSM-V

El presente estudio pretende explicar cómo las Nuevas Teorías de la Democracia y la psiquiatría occidental moderna están contribuyendo a la fijación de un Modelo Ideal de Agente Epistémico, en la medida en que reconocen la necesidad de estados mentales y cognitivos específicos, habilidades perceptivas, y capacidades de relación social como condiciones necesarias para que el ciudadano pueda formar parte del input y del proceso político, y para que una persona sea considerada mentalmente sana, respectivamente.

El propósito final de esta disertación filosófica es advertir al lector del peligro de este binomio interseccional, en la medida en que constituye un proceso discriminativo que excluye a una gran diversidad de personas, impidiendo así que disfruten de las ventajas de unas sociedades políticas presumiblemente más democráticas. De igual manera, se presentarán alternativas al paradigma psiquiátrico actual que faciliten el desarrollo de modelos deliberativos y participativos más inclusivos.

Palabras clave: Agente Epistémico, Metapsiquiatría, Locura, Deliberación, Participación.

Aproximadamente a partir del año 2010, los usos terapéuticos del cannabis se han extendido en nuestras sociedades latinoamericanas. Dichas terapias se construyen mayormente en el ámbito doméstico y en redes por fuera de instituciones oficiales de salud. Así, la biomedicina tiende a subalternatizar cualquier saber-hacer alternativo al modelo médico hegemónico. Nuestro objetivo es describir cómo se produce saber-hacer popular en torno a los usos terapéuticos del cannabis, identificando las tensiones y diferencias con la biomedicina. Metodológicamente nos basamos en experiencias documentadas en investigaciones propias y de otres, para construir una descripción sobre ese saber-hacer popular en contraste con el biomédico. Nuestros resultados dan cuenta de las singularidades epistémicas,
metodológicas y valorativas en la construcción de los usos terapéuticos del cannabis, acompañada de una negación autoridad epistémica y marginalización en la producción, circulación y reconocimiento sobre su valor terapéutico. Recurrimos al concepto de violencia epistémica como analizador para comprender dicho proceso violencia que en ocasiones puede abonar a una violencia institucional. Consideramos necesario visibilizar la violencia epistémica que impide el desarrollo de saberes, conocimientos y terapias alternativos que vienen a complementar y (re)crear, y no a reemplazar, formas de pensar e intervenir en el ámbito salud.

ne of the major challenges in obtaining consent from patients participating in patient registries is ensuring that participants receive all the information and background material necessary to make a fully informed decision and understand what his/her participation and signature mean. One challenge is how to include all of the regulatory elements in a short consent document that is easily understood. In addition to a well-written consent form, much thought and attention need to be given to the consent process itself. The patient registry process will be helped by having a common template for an informed consent document and common consent processes adopted by the rare disease registries will be part of the GRDR. Based on recommendations from the subject matter experts that participated in a workshop organized by the Office of Rare Disease Research at the National Center for Advancing Translational Sciences, NIH, a template for informed consent for patient participation in patient registries was developed. This template addresses key aspects and regulatory issues related to participating in a patient registry and can be used for any registry and modified according to the specific needs of the individual registry.

The aim of this synthesized literature review is to provide an overview of patient-reported outcomes (PROs), a term we use to refer to both health outcomes reported directly by patients, and the tools used for their collection and measurement. Developed from the 2000s onwards, PROs have multiplied as their uses have diversified. We review approximately 50 articles authored by clinical researchers, public health physicians, and to a lesser extent, health economists, as well as approximately 10 practice guidelines distributed by public agencies, research consortia, and think tanks that develop PROs. The overview begins with descriptions of a few historical milestones that reveal the decisive role played by the FDA in the use of PROs when reviewing new treatments tested in clinical trials. These descriptions are followed by a formal definition of PROs that has now been adopted by most of the parties involved. The review continues with a focus on the different categories of PROs developed over the last two decades, well beyond the framework of clinical trials alone. Finally, it addresses recent debates on the capacity of PROs to collect and measure patient experiences, the methodological issues involved in the design of these tools, and in particular, the participation of patient organizations in the construction of PROs that better reflect the specific concerns of the people affected.

Rare diseases are those whose prevalence is below 5 cases per 10,000 inhabitants in the European Community. Most cases are diagnosed during paediatric age due to their genetic origin, while some others are congenital malformations. Nevertheless, a higher prevalence is seen during adulthood as most of the former diseases are very severe and patients die during childhood. At the same time, higher survival rates are related to some chronic rare diseases in adults. The Spanish Network of Research Epidemiology for Rare Diseases (REpIER) developed the first atlas showing the geographical distribution of rare diseases in Spain, assessed the Spanish rare disease registries, contributed to the further development of regional plans on rare diseases, as well as to social and health actions, and established the real group of needs to be solved. These have been included in the Communication of the European Commission on Rare Diseases as well as in the Spanish Senate Presentation. K Ke ey y w wo or rd ds s. Rare Diseases. Orphan drugs. Epidemiology.

Patient organisations (POs) play a significant role in the transformation of contemporary health systems. This article concentrates on the mundane and invisible work that enables and maintains POs, including the contextual inscription of such work and its relational becoming with visible practices. Grounded in ethnographic study within the Russian Multiple Sclerosis Society (RuMSS), I analyse how visible and invisible work are articulated in particular situations. Though this analysis, I bring forth the work of composition – the continuous situated work of putting together a PO, with care for heterogeneity of its visible and invisible practices and without an expectation of a predetermined result. The strategically visible work builds up RuMSS expertise, making it a legitimate mediator between different health actors. Meanwhile, the invisible tactics maintain the internal porosity and flexibility of the PO, allowing its members to escape surveillance and achieve efficacy despite strategic limitations. The articulation of these two streams of work within a given situation is a specific invisible practice performed by the RuMSS members – the composition work. This work requires collective and embodied sensitivity to the effects of making work (in)visible in specific time-spaces or chronotopes, and it manifests a modality of care within POs.

Rare diseases (RDs) represent a wide, varied group of illnesses characterised by their low prevalence among the population. Moreover, they can appear at any time of life, including in infancy. For this reason, the aim of this article was to review and analyse research in the field of education to find out what kind of educational response is offered by schools to pupils with RDs. The following databases were used to find the pertinent bibliography: Web of Science, Scopus, Education Database (Proquest) and Eric. After retrieving the publications included in this study, each paper was reviewed and analysed on the basis of what journal they were published in and their abstracts. Out of the 53 studies included, only six bore any relation to the school context. The results showed that while there are scientific papers on RDs, most of them are restricted to the medical sphere. It was therefore concluded that further research is needed in the field of education to advance in the schooling of pupils with RDs.

Resumen: El principio de subsidiariedad, ampliamente definido en filosofía política y social, se refiere no solo a la relación de las comunidades entre sí, sino también a las relaciones del individuo con cualquier tipo de comunidad social. La subsidiariedad, por medio de la participación, promueve la dignidad de la persona, como ser individual y social, y reconoce como primario al bien de la persona individual. Según este principio, los individuos o comunidades predominantes adoptan una actitud de ayuda-apoyo, promoción y respeto-respecto de las menores. Adaptado, puede ser utilizado como un parámetro para comprender el concepto de empoderamiento de los pacientes para el cuidado de la salud. Para que este proceso pueda establecerse se requiere, por un lado, una relación médico-paciente, centrada en el paciente y su familia, en la que reciban las herramientas necesarias para la toma de decisiones en salud y, por otro, se creen entidades sociales intermedias en las que los pacientes y sus familias puedan desarrollar estrategias que permitan mejorar el cuidado de salud. El objetivo de este trabajo es profundizar en este principio y ofrecer un marco bioético que facilite la comprensión y desarrollo del concepto de empoderamiento en salud. Palabras clave: principio de subsidiariedad, empoderamiento para la salud, enfermedades raras The application of the subsidiary principle for patients' empowerment for health care: the case of rare diseases in Argentina

The global increase of health demands pushes administrators and policy makers to provide good quality health care at sustainable costs. Many approaches have been developed, among which value-based health care (VBHC) is one of the most promising: value is given by outcomes achieved per dollar spent. Best value is given by shared benefits between all the stakeholders involved in the process: patients, providers, suppliers, payers and citizens. However, VBHC implementation is a current challenge for hospitals and healthcare providers, that may find it difficult to adapt their organization into a patient-centered clinical pathway based on both classical outcomes and innovative patient-evaluation. If any contribution to improve cost-effectiveness over the full cycle of care is welcome, laboratory medicine is achieving increasing importance, by generating useful knowledge to reduce costs and improve patient care, provided by a biunivocal relationship with clinicians. On the one hand, pathologists have to emphasize the importance of laboratory data to improve diagnostic and prognostic traditional thinking. On the other hand, the same data are useful only when supported by strong evidence. Introducing laboratory medicine professionals to VBHC would be useful to achieve better skills on data outline, comparable methodologies, quality control, cost assessment, multidisciplinary coordination and patient-specific procedures.

The aim of this synthesized literature review is to provide an overview of patient-reported outcomes (PROs), a term we use to refer to both health outcomes reported directly by patients, and the tools used for their collection and measurement. Developed from the 2000s onwards, PROs have multiplied as their uses have diversified. We review approximately 50 articles authored by clinical researchers, public health physicians, and to a lesser extent, health economists, as well as approximately 10 practice guidelines distributed by public agencies, research consortia, and think tanks that develop PROs. The overview begins with descriptions of a few historical milestones that reveal the decisive role played by the FDA in the use of PROs when reviewing new treatments tested in clinical trials. These descriptions are followed by a formal definition of PROs that has now been adopted by most of the parties involved. The review continues with a focus on the different categories of PROs developed over the last two decades, well beyond the framework of clinical trials alone. Finally, it addresses recent debates on the capacity of PROs to collect and measure patient experiences, the methodological issues involved in the design of these tools, and in particular, the participation of patient organizations in the construction of PROs that better reflect the specific concerns of the people affected.

This article investigates how the engagement of patients' organisations (POs) in research relates to the dynamics of their activism in the area of rare diseases. It traces back how certain concerned families and groups elaborated rareness as an issue of equity and social justice, gave shape to what we call a 'politics of numbers' for stating the fact of rare diseases as a major public health problem, and promoted patients' critical involvement in biomedical and therapeutic research as a solution for mainstreaming rare diseases in regular health systems. It then studies three Portuguese and three French POs, which point to the limits of the epidemiological notion of rareness for capturing the compounded and intersecting nature of the bio-psycho-social make-up of their conditions. It finally shows how these critics progressively lead to the emergence of an alternative politics, which we call a 'politics of singularisation'. At the core of this politics stands a collective and ongoing profiling of conditions and patients, whose similarities and differences relates to the ubiquity of biological pathways and diseases categories. Our contention is that this 'politics of singularisation' not only pictures a politics of illnesses which questions the rationale for nosological classifications, but also, and consequently, affects the making of social links by suggesting the simultaneous identification of individual patients and constitution of collectives to which they partake while asserting their specificities.

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1. El debate social sobre la salud y la enfermedad Dice Richard Gwyn (8) que en la actualidad todos los periódicos incluyen a diario informaciones y columnas de opinión en las que se habla de salud, al margen de los suplementos y de las numerosas páginas electrónicas y programas de televisión existentes sobre la materia. Dado ese volumen de textos y de interacciones, no es casualidad que, en relación a estos temas, surja con frecuencia el término 'debate social' (Boorse, 77; Martínez Olmos, 112). Como dijimos en otro lugar (Bañón 2002 y 2011), es adecuado pensar en el valor teórico y metadiscursivo de ese término, convirtiéndolo en un hipergénero propicio para el análisis de 'galaxias discursivas' como las propias de la salud y de la enfermedad y dando así respuesta, en parte, a la reclamación de Liz Jones y Bernadette Watson (117) a propósito de la necesidad de ofrecer nuevas categorías y modelos que puedan ayudar a dar cuenta de la complejidad de la comunicación cu...

Performance management has considerable influence in today's society and is almost a ubiquitous management action. Due to the value of new public management, users can raise expectations, check quality, complain to suppliers, etc. Currently, the delivery of public or medical services is almost always under the control of performance management. Therefore, this study intends to explore the sources of performance indicators and the characteristics of performance management practices of medical social workers, as well as the corresponding practices of medical social workers for performance management, and to put forward research suggestions. This study conducted in-depth interviews with 5 senior managers directly under the social work department of the hospital, 5 medical social work supervisors, 5 medical social worker staff, and 3 representatives of medical social work organizations, for a total of 18 research participants.

Medical social workers show suppression of hospital managerialism and expectations of medical teams. This study aimed to investigate the responsive strategies of clinical medical social workers toward managerialism based on the interaction between its and medical teams. This study conducted 18 in-depth interviews. The effects of managerialism on clinical medical social workers were derived from cognition and the expectation gap between medical teams and clinical medical social workers. This study generalized the professional responsive strategies of clinical medical social workers as follows: (1) communication and persuade: demonstration of discussions and communication competency to reveal professional functions, (2) support and internal control: stability of internal aspect of social workers to facilitate self-care and growth, and (3) education and spread: making changes to construct a friendly environment. Finally, this study proposes discussions and suggestions and concludes the responsive strategies of medical social work.

Objectives: The Joint ISPOR-ISPE Special Task Force on Real-World Evidence included patient/stakeholder engagement as a recommended good procedural practice when designing, conducting, and disseminating real-world evidence (RWE). However, there are no guidelines describing how patient experience data (PED) can be applied when designing real-world data (RWD) studies. This article describes development of consensus recommendations to guide researchers in applying PED to develop patient-centered RWE. Methods: A multidisciplinary advisory board, identified through recommendations of collaborators, was established to guide development of recommendations. Semistructured interviews were conducted to identify how experienced RWD researchers (n = 15) would apply PED when designing a hypothetical RWD study. Transcripts were analyzed and emerging themes developed into preliminary methods recommendations. An eDelphi survey (n = 26) was conducted to refine/develop consensus on the draft recommendations. Results: We identified 13 recommendations for incorporating PED throughout the design, conduct, and translation of RWE. The recommendations encompass themes related to the development of a patient-centered research question, designing a study, disseminating RWE, and general considerations. For example, consider how patient input can inform population/ subgroups, comparators, and study period. Researchers can leverage existing information describing PED and may be able to apply those insights to studies relying on traditional RWD sources and/or patient registries. Conclusions: Applying these emerging recommendations may improve the patient centricity of RWE through improved relevance of RWE to patient communities of interest and foster greater multidisciplinary participation and transparency in RWD research. As researchers gather experience by applying the methods recommendations, further refinement of these consensus recommendations may lead to "best practices."

Highlights the emergence of a "hybrid collective model" of collaboration between patients and experts through a systematic study in the field of rare diseases in France and Portugal, with attention to the reflexive work carried out by patients' organizations on the notion of rareness.

El proyecto COMPAX nacio con el objetivo de mejorar la experiencia del paciente, especialmente en aquellas cuestiones en la que la comunicacion juega un papel fundamental, como por ejemplo la atencion sanitaria. De esta manera, el proyecto COMPAX interviene desde el ambito de la comunicacion en aquellos aspectos claves de la relacion del medico-paciente entendida como “una relacion interpersonal con connotaciones eticas, filosoficas y sociologicas, de tipo profesional que sirve de base a la gestion de salud” 1 . Por ello, la informacion que el paciente recibe debe ser comprensible, sin dejar de ser objetiva y constructiva, adaptada al contexto de cada paciente 2 . Como resultado de este enfoque, COMPAX ha determinado un protocolo de actuacion, basado en la co-creacion, donde el paciente es el centro del sistema y desde el cual se han construido una serie de materiales que permiten mejorar la comunicacion y el entendimiento del paciente sobre su enfermedad, procedimientos y pruebas c...

Introduction:Co-production relates to patients and health professionals working in equal partnership with shared decision-making. Patient-reported outcome measures (PROMs) and patient-reported experience measures (PREMs) are increasingly being used to involve patients and measure healthcare quality. We set out to develop a set of universal experience questions for use across Wales. These will be used in various settings, including the national electronic PROMs and PREMs platform, which is already collecting outcome data across Wales and has received over 7,000 responses to date.Methods:Patient experience leads and clinical leads were invited to a workshop to discuss standardized PREMs collection in Wales, with all health boards and trusts represented. It was agreed that quantitative patient experience data collection, while limited, would be a pragmatic way to collect responses from a large cohort. It was agreed that a previously developed set of PREMs questions could be adapted for...

Resumen Se presenta el análisis de los resultados del tratamiento que los medios españoles hicieron de las llamadas enfermedades raras durante los meses de abril, mayo y junio del año 2014. Este informe tiene el mismo objetivo general que tenía el primer informe de los tres meses anteriores: comprender cómo presentan estas patologías los medios españoles y, correlativamente, cómo evoluciona esta representación de los medios. En este informe se intenta comparar los datos de aquel primer trimestre con los del ahora objeto de estudio.

The aim of this synthesized literature review is to provide an overview of patient-reported outcomes (PROs), a term we use to refer to both health outcomes reported directly by patients, and the tools used for their collection and measurement. Developed from the 2000s onwards, PROs have multiplied as their uses have diversified. We review approximately 50 articles authored by clinical researchers, public health physicians, and to a lesser extent, health economists, as well as approximately 10 practice guidelines distributed by public agencies, research consortia, and think tanks that develop PROs. The overview begins with descriptions of a few historical milestones that reveal the decisive role played by the FDA in the use of PROs when reviewing new treatments tested in clinical trials. These descriptions are followed by a formal definition of PROs that has now been adopted by most of the parties involved. The review continues with a focus on the different categories of PROs developed over the last two decades, well beyond the framework of clinical trials alone. Finally, it addresses recent debates on the capacity of PROs to collect and measure patient experiences, the methodological issues involved in the design of these tools, and in particular, the participation of patient organizations in the construction of PROs that better reflect the specific concerns of the people affected.

1. El debate social sobre la salud y la enfermedad Dice Richard Gwyn (8) que en la actualidad todos los periódicos incluyen a diario informaciones y columnas de opinión en las que se habla de salud, al margen de los suplementos y de las numerosas páginas electrónicas y programas de televisión existentes sobre la materia. Dado ese volumen de textos y de interacciones, no es casualidad que, en relación a estos temas, surja con frecuencia el término 'debate social' (Boorse, 77; Martínez Olmos, 112). Como dijimos en otro lugar (Bañón 2002 y 2011), es adecuado pensar en el valor teórico y metadiscursivo de ese término, convirtiéndolo en un hipergénero propicio para el análisis de 'galaxias discursivas' como las propias de la salud y de la enfermedad y dando así respuesta, en parte, a la reclamación de Liz Jones y Bernadette Watson (117) a propósito de la necesidad de ofrecer nuevas categorías y modelos que puedan ayudar a dar cuenta de la complejidad de la comunicación cu...

ObjectiveTo report the results of a survey exploring the experience of patients with SLE facing hydroxychloroquine (HCQ) shortage that occurred during the early phases of the COVID-19 pandemic.MethodsA survey was designed by Lupus Europe’s patient advisory network and distributed through its social media, newsflash and members' network. People with lupus were asked about their last HCQ purchases and their level of anxiety (on a 0–10 scale) with regard to not being able to have access to HCQ, once in April 2020 (first wave) and after 11 August (second wave). The results were compared.Results2075 patients responded during the first wave; 1001 (48.2%) could get HCQ from the first place they asked, 230 (11.1%) could get the drug by going to more than one pharmacy, 498 (24.0%) obtained HCQ later from their usual pharmacy and 126 (6.1%) from other sources. 188 (9.1%) could not get any; 32 (1.5%) did not respond to this question. All countries showed significant improvement in HCQ avai...

ObjectiveThe aim of this study was to analyse the 2020 burden of Systemic Lupus Erythematosus (SLE) in Europe, from the patients’ perspective.MethodsIn May 2020, Lupus Europe, the European umbrella patient association for SLE, designed and disseminated a multilingual anonymous online survey to individuals with a self-reported physician’s diagnosis of SLE living in Europe.ResultsData from 4375 SLE survey respondents (95.9% women, median age: 45 (IQR: 36–54) years, 70.7% Caucasians) from 35 European countries were analysed. The median age at SLE diagnosis was 30 years (IQR: 22–40) and the median diagnosis delay was 2 years (IQR: 0–6). The most commonly affected organ-systems included the joints (81.8%) and skin (59.4%), with renal involvement in 30%. Another diagnosis was given before that of SLE in 45.0%, including psychological/mental disorders in 9.1% and fibromyalgia in 5.9%. The median number of symptoms reported was 9 (IQR: 6–11) out of 21, with fatigue most common (85.3%) and m...

RESUMEN Este trabajo tiene como primer objetivo describir críticamente los distintos modelos de interacción entre médico y paciente. En las últimas décadas se ha hablado fundamentalmente del patrón biomédico, del prototipo psicosocial y del modelo combinado de ambos. El segundo objetivo será observar la aplicabilidad de estos modelos al contexto específico de las enfermedades poco frecuentes. Hablamos de enfermedades que afectan a menos de 5 por 10.000 habitantes y que tardan una media de 5 años en ser diagnosticadas. Apenas hay tratamientos disponibles para las aproximadamente 7.000 enfermedades de este tipo identi-ficadas y el desconocimiento, incluso entre profesionales, sigue siendo notable. Este perfil repercute directamente sobre el marco en el que se desarrolla el inter-cambio de discursos entre profesionales y afectados. Además de la actualización bibliográfica correspondiente, hemos analizado las menciones que 9 personas adultas con enfermedades poco frecuentes han hecho de...

Nursing clinical performance examinations have become a central professional and corporate issue. The purpose of this study was, by means of evaluation by experts, opinions of psychiatric nurses, and the results of the examinations, to explore the objectivity, acceptability, comparability and fairness of the Basic Psychiatric Nurses' Clinical Performance Examination. The 10 experts were highly knowledgeable about the form and content of the examination. Structured questionnaires were used to collect data from the 112 psychiatric nurses. These 112 psychiatric nurses, who participated in the examinations, had intermediate and high degrees of knowledge about the form and content of the examination. The results of this study support that the objectivity, comparability, acceptability, and fairness of the psychiatric clinical examinations can be effectively demonstrated and foster an evidence-based performance examination approach to psychiatric nursing professional.

Fornieles Alcaraz, J. (2013): "Internacionalización, formación y análisis de la realidad. Tres conceptos esenciales en el desarrollo de acciones positivas por parte de FEDER (Federación Española de Enfermedades Raras)". Revista Española de Discapacidad, I (2): 135-141.

Rare diseases (RDs) are often neglected because they affect a small percentage of the population (6-8 %), which makes research and development of new therapies challenging processes. Easy access to high-quality samples and associated clinical data is therefore a key prerequisite for biomedical research. In this context, Genetic Biobanks are critical to developing basic, translational and clinical research on RDs. The Telethon Network of Genetic Biobanks (TNGB) is aware of the importance of biobanking as a service for patients and has started a dialogue with RD-Patient Organisations via promotion of dedicated meetings and round-tables, as well as by including their representatives on the TNGB Advisory Board. This has enabled the active involvement of POs in drafting biobank policies and procedures, including those concerning ethical issues. Here, we report on our experience with RD-Patient Organisations who have requested the services of existing biobanks belonging to TNGB and descri...

Within the myriad articles about participants' opinions of genomics research, the views of a distinct group - people with a rare disease (RD) - are unknown. It is important to understand if their opinions differ from the general public by dint of having a rare disease and vulnerabilities inherent in this. Here we document RD patients' attitudes to participation in genomics research, particularly around large-scale, international data and biosample sharing. This work is unique in exploring the views of people with a range of rare disorders from many different countries. The authors work within an international, multidisciplinary consortium, RD-Connect, which has developed an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for RD research. Focus groups were conducted with 52 RD patients from 16 countries. Using a scenario-based approach, participants were encouraged to raise topics relevant to their own experiences, rather than these ...

Resumen Se presenta el análisis de los resultados del tratamiento que los medios españoles hicieron de las llamadas enfermedades raras durante los meses de abril, mayo y junio del año 2014. Este informe tiene el mismo objetivo general que tenía el primer informe de los tres meses anteriores: comprender cómo presentan estas patologías los medios españoles y, correlativamente, cómo evoluciona esta representación de los medios. En este informe se intenta comparar los datos de aquel primer trimestre con los del ahora objeto de estudio.

Se presenta el análisis de los resultados del tratamiento que los medios españoles hicieron de las llamadas enfermedades raras durante los meses de abril, mayo y junio del año 2014. Este informe tiene el mismo objetivo general que tenía el primer informe de los tres meses anteriores: comprender cómo presentan estas patologías los medios españoles y, correlativamente, cómo evoluciona esta representación de los medios. En este informe se intenta comparar los datos de aquel primer trimestre con los del ahora objeto de estudio.

Background: Alleviating the burden of rare diseases requires research into new diagnostic and therapeutic strategies. We undertook a systematic review to identify and compare the impact of stand-alone registries, registries with biobanks, and rare disease biobanks on research outcomes in rare diseases. Methods: A systematic review and meta-aggregation was conducted using the preferred reporting items for systematic reviews and meta-analyses (the PRISMA statement). English language publications were sourced from PubMed, Medline, Scopus, and Web of Science. Original research papers that reported clinical, epidemiological, basic or translational research findings derived from data contained in stand-alone registries, registries with biobanks, and rare disease biobanks were considered. Articles selected for inclusion were assessed using the critical appraisal instruments by JBI-QARI. Each article was read in its entirety and findings were extracted using the online data extraction software from JBI-QARI. Results: Thirty studies including 28 rare disease resources were included in the review. Of those, 14 registries were not associated to biobank infrastructure, 9 registries were associated with biobank infrastructure, and 6 were rare disease biobank resources. Stand-alone registries had the capacity to uncover the natural history of disease and contributed to evidence-based practice. When annexed to biobank infrastructure, registries could also identify and validate biomarkers, uncover novel genes, elucidate pathogenesis at the Omics level, and develop new therapeutic strategies. Rare disease biobanks in this review had similar capacity for biological investigations, but in addition, had far greater sample numbers and higher quality laboratory techniques for quality assurance processes.

Rare Disease registries have now been recognized as a global priority for progress in monitoring, documenting the natural course, preventing and treating Rare Diseases. However, a disease registry is only one element of Rare Disease translational research. Here, we outline what we believe are ten key components in comprehensive Rare Disease translational research and describe critical relationships between them. These components are: i) Client-practitioner partnerships; ii) Disease registries; iii) Biobanks; iv) Genomics and other-omics platforms; v) Community-based and population-wide studies; vi) Bioinformatics and high performance computing; vii) Interactions with pharma to facilitate drug discovery; viii) Personalised treatments based on genotype-phenotype correlations; ix) eHealth and a whole of life record; and x) Regulatory frameworks, particularly with regard to specimen and data sharing, and return of results. Each component has its own inherent complexity, but if effectively integrated they will provide for a comprehensive approach to the future management of Rare Diseases, and aid health care providers in delivering services for individuals affected with Rare Diseases. We demonstrate that navigating through the Roadmap can provide relevant health stakeholders with a blueprint to understand the challenges and barriers which need to be overcome within and across the constituent components. The Rare Disease Roadmap will assist decision-making at all health stakeholder levels and enable the seamless integration of new knowledge, standard operating procedures and the implementation of best practice.

Based on the Mandala model for Chinese self-proposed by Prof. Hwang(2011) and the structure of destiny existing in traditional Chinese culture, the article analyzed the qualitative interview data collected by this research team in the Kaohsiung Drug Abuser Treatment Center, Agency of Corrections, Ministry of Justice, in order to understand the causes of drug addiction and its consequence of psychosocial disturbances, and proposed a holistic model of correction with the practice of Naikan therapy. It is expected that this model can be used for correction treatment and moral education at institutions in Chinese society.

Rare diseases are diseases with a particularly low prevalence. The specificities of rare diseases-limited number of patients and scarcity of relevant knowledge and expertise-single them out as a distinctive domain of very high added value. The international reference for classification of diseases and conditions is the International Classification of Diseases (ICD), coordinated by the World Health Organization (WHO). Patient registries and databases constitute key instruments for the development of clinical research in the field of rare diseases. Rare disease registries include not only diseases that are inherently rare, but also common diseases that are rare in specific populations, especially those defined by demographics. Disease registries create the possibility of assessing the long-term safety and benefit of different treatments, perhaps leading to treatment algorithms that allow more choices for patients and clinicians.

Sánchez-Teruel, D. (2011). Las enfermedades raras en niños de 0 a 6 años: una aproximación clínica. En Mª A. Robles-Bello y D. Sánchez-Teruel (2011) (Coord). Evaluación e intervención en Atención Infantil Temprana: hallazgos recientes y casos prácticos (pp.345-382).

Rare diseases (RDs) are often neglected because they affect a small percentage of the population (6-8 %), which makes research and development of new therapies challenging processes. Easy access to high-quality samples and associated clinical data is therefore a key prerequisite for biomedical research. In this context, Genetic Biobanks are critical to developing basic, translational and clinical research on RDs. The Telethon Network of Genetic Biobanks (TNGB) is aware of the importance of biobanking as a service for patients and has started a dialogue with RD-Patient Organisations via promotion of dedicated meetings and round-tables, as well as by including their representatives on the TNGB Advisory Board. This has enabled the active involvement of POs in drafting biobank policies and procedures, including those concerning ethical issues. Here, we report on our experience with RD-Patient Organisations who have requested the services of existing biobanks belonging to TNGB and descri...

in SLE, defined according the ACR criteria of 1999. Study selection and data extraction was made in duplicate. We secured salient study characteristics, composition of cohorts, the definitions and the frequencies of neuropsychiatric manifestations. We assessed heterogeneity across reports and investigated sources of variation using meta-regression models. Results The frequencies of severe manifestations found in the SSLE were 7.1% (49/688) for cerebrovascular events, 5.3% (37/688) for seizures and 6.5% (45/688) for psychosis. The time-to-event analysis showed a linear relationship between duration of SLE and cumulative incidence of severe neuropsychiatric manifestations. Searches identified 530 studies and authors' contact yielded another unpublished report. We included 28 studies. The mean rates of the most commonly reported severe neuropsychiatric manifestations ranged in the magnitude of 50 percent points. Study characteristics and composition of cohorts could not explain heterogeneity of reported manifestation rates. Conclusions The spectrum of neuropsychiatric manifestations in SLE is widely dispersed. The diagnostic work-up and the reporting of manifestations varied substantially across studies which may explain inconsistencies to some extent. We call for concerted efforts and a broad consensus regarding stringent definitions of neuropsychiatric SLE manifestations that allow targeted detection, particularly with view to timely intervention and patient outcomes.