CIBERER : Spanish national network for research on rare diseases: A highly productive collaborative initiative

Altres ajuts: Instituto de Salud Carlos III (ISCIII); Ministerio de Ciencia e Innovación.CIBER (Center for Biomedical Network Research; Centro de Investigación Biomédica En Red) is a public national consortium created in 2006 under the umbrella of the Spanish National Institute of Health Carlos III (ISCIII). This innovative research structure comprises 11 different specific areas dedicated to the main public health priorities in the National Health System. CIBERER, the thematic area of CIBER focused on rare diseases (RDs) currently consists of 75 research groups belonging to universities, research centers, and hospitals of the entire country. CIBERER's mission is to be a center prioritizing and favoring collaboration and cooperation between biomedical and clinical research groups, with special emphasis on the aspects of genetic, molecular, biochemical, and cellular research of RDs. This research is the basis for providing new tools for the diagnosis and therapy of low-prevalence diseases, in line with the International Rare Diseases Research Consortium (IRDiRC) objectives, thus favoring translational research between the scientific environment of the laboratory and the clinical setting of health centers. In this article, we intend to review CIBERER's 15-year journey and summarize the main results obtained in terms of internationalization, scientific production, contributions toward the discovery of new therapies and novel genes associated to diseases, cooperation with patients' associations and many other topics related to RD research

Validación del Cuestionario de Preferencias de Soporte Vital (LSPQ) para su uso en la población española

ObjetivoValidar el Cuestionario de Preferencias de Soporte Vital (LSPQ) para su uso en población española.DiseñoEstudio realizado en tres fases: a) traducción y adaptación idiomática; b) evaluación de su validez, y c) validación de sus propiedades psicométricas.EmplazamientoEl estudio se ha llevado a cabo en 9 consultas de enfermería de atención primaria y en 2 aulas universitarias de Granada.ParticipantesSe incluyeron pacientes mayores de edad y estudiantes universitarios de primer y segundo cursos, sin deterioro cognitivo.Mediciones principalesEquivalencia de la traducción con el original verificada por bilingües. Corrección lingüística y gramatical evaluada por expertos en lengua española. Validez del cuestionario evaluada por 15 jueces-expertos y 20 pacientes.Complejidad lingüística (índice de Szigriszt). Estabilidad temporal (test de McNemar). Consistencia interna (alfa de Cronbach).Resultadosa) 2 personas bilingües realizaron una traducción que fue revisada por 6 expertos en lengua española. Tras las modificaciones que sugirieron, las personas bilingües aseguraron su equivalencia con el original; b) 15 expertos afirmaron que cada ítem era buen indicador de las preferencias de cuidado al final de la vida; c) 20 usuarios confirmaron la aceptabilidad y comprensibilidad del cuestionario; d) en relación con la fiabilidad, completaron el cuestionario 299 participantes (de los 369 inicialmente seleccionados), y e) la estabilidad del cuestionario es de 0,92 y su consistencia interna de 0,85.ConclusiónEl cuestionario LSPQen español (LSPQ-e) es una herramienta fiable diseñada para ayudar a los pacientes a clarificar sus preferencias de cuidado y tratamiento al final de la vida.ObjectiveTo validate the Life-Support Preferences Questionnaire (LSPQ) for its use in Spain.DesignThree-stage study: a) translation and linguistic adaptation; b) evaluation of its validity; and c) validation of its psychometric properties.SettingNine primary care nursing clinics and 2 university classes in Granada, Spain.ParticipantsPatients who were of age and were first- or second-year university students, without any cognitive deterioration.Main measurementsThe equivalence of the translation and the original was checked by bilingual people; its linguistic and grammatical standard was appraised by experts in Spanish. The validity of the questionnaire was evaluated by 15 judges-experts and 20 patients; linguistic complexity (Szigriszt index); stability in time (McNemar test); internal consistency (Cronbach's alpha).Resultsa) 2 bilingual people did a translation that was reviewed by 6 experts in Spanish. After alterations suggested by the experts, the bilingual people ratified its equivalence with the original; b) 15 experts affirmed that each item was a good indicator of care preferences atthe end of life; c) 20 users confirmed the acceptability and comprehensibility of the questionnaire; d) reliability: 299 participants out of the 369 initially selected filled in the questionnaire; and e) its stability was 0.92; and its internal consistency, 0.85.ConclusionThe LSPQ questionnaire in Spanish (LSPQ-e) is a reliable tool, designed to help patients to clarify their care and treatment preferences at the end of their lives

Derecho y Sociedad: La responsabilidad de los profesionales desde un enfoque jurídico y social

Este proyecto de investigación ha analizado una parte relevante de las responsabilidades en las que pueden incurrir los profesionales desde una aproximación interdisciplinar, con un claro componente jurídico, social y práctico. Analizar la responsabilidad profesional es referirse inevitablemente a un fenómeno actual. La sociedad consumista y, al mismo tiempo, reivindicativa de unas actuaciones intachables promueven las reclamaciones de todo aquel profesional que ocasiona un daño en el desempeño de su profesión, siendo preciso analizar esta responsabilidad. Por un lado, debe tenerse en cuenta que prácticamente todas las actividades profesionales son susceptibles de generar un riesgo y, en consecuencia, un daño. Es la relevancia social de cualquier profesión la que justifica la responsabilidad de aquellos que la ejercen. Por otro lado, el desempeño de una actividad diligente de los profesionales, ajustada a unos estándares de calidad en cada ámbito de actuación, resulta necesaria para el adecuado funcionamiento de la actividad económica, especialmente de la actividad empresarial como núcleo de la economía de mercado. Además, téngase en cuenta que si no resulta claro qué actuaciones generan responsabilidad, no será posible delimitar sus efectos ni sus posibilidades de aseguramiento. Precisamente, el desempeño de la práctica profesional constituye un aspecto de gran trascendencia y actualidad práctica, englobando una diversidad de materias que se rige por una normativa especial en función del sector en el que se desarrolle la actividad, siendo preciso analizar su responsabilidad desde distintos ámbitos, las normas que regulan estas cuestiones de cambiante normativa, sus contradicciones jurídicas y sus planteamientos jurisprudenciales. La propia relación jurídica actualmente existente arroja un panorama que se ensombrece cuando se constata que las normas que tratan de regular estas cuestiones, ya de por sí muy complicadas, no son elaboradas con la ayuda de una adecuada técnica jurídica y se mueven en la dispersa, desordenada y cambiante normativa donde proliferan lagunas, contradicciones y reenvíos a otras disposiciones. En otros casos, hemos constatado que no existe una regulación específica sobre la responsabilidad profesional ni encontramos un sistema que delimite claramente los tipos contractuales con precisión, por lo que deben aplicarse los criterios generales previstos por el ordenamiento.Fundación HERGAR. Convocatoria de ayudas a proyectos de investigación 20162015-2016 y 2016-201

COVID-19 in hospitalized HIV-positive and HIV-negative patients : A matched study

CatedresObjectives: We compared the characteristics and clinical outcomes of hospitalized individuals with COVID-19 with [people with HIV (PWH)] and without (non-PWH) HIV co-infection in Spain during the first wave of the pandemic. Methods: This was a retrospective matched cohort study. People with HIV were identified by reviewing clinical records and laboratory registries of 10 922 patients in active-follow-up within the Spanish HIV Research Network (CoRIS) up to 30 June 2020. Each hospitalized PWH was matched with five non-PWH of the same age and sex randomly selected from COVID-19@Spain, a multicentre cohort of 4035 patients hospitalized with confirmed COVID-19. The main outcome was all-cause in-hospital mortality. Results: Forty-five PWH with PCR-confirmed COVID-19 were identified in CoRIS, 21 of whom were hospitalized. A total of 105 age/sex-matched controls were selected from the COVID-19@Spain cohort. The median age in both groups was 53 (Q1-Q3, 46-56) years, and 90.5% were men. In PWH, 19.1% were injecting drug users, 95.2% were on antiretroviral therapy, 94.4% had HIV-RNA < 50 copies/mL, and the median (Q1-Q3) CD4 count was 595 (349-798) cells/μL. No statistically significant differences were found between PWH and non-PWH in number of comorbidities, presenting signs and symptoms, laboratory parameters, radiology findings and severity scores on admission. Corticosteroids were administered to 33.3% and 27.4% of PWH and non-PWH, respectively (P = 0.580). Deaths during admission were documented in two (9.5%) PWH and 12 (11.4%) non-PWH (P = 0.800). Conclusions: Our findings suggest that well-controlled HIV infection does not modify the clinical presentation or worsen clinical outcomes of COVID-19 hospitalization

How do women living with HIV experience menopause? Menopausal symptoms, anxiety and depression according to reproductive age in a multicenter cohort

CatedresBackground: To estimate the prevalence and severity of menopausal symptoms and anxiety/depression and to assess the differences according to menopausal status among women living with HIV aged 45-60 years from the cohort of Spanish HIV/AIDS Research Network (CoRIS). Methods: Women were interviewed by phone between September 2017 and December 2018 to determine whether they had experienced menopausal symptoms and anxiety/depression. The Menopause Rating Scale was used to evaluate the prevalence and severity of symptoms related to menopause in three subscales: somatic, psychologic and urogenital; and the 4-item Patient Health Questionnaire was used for anxiety/depression. Logistic regression models were used to estimate odds ratios (ORs) of association between menopausal status, and other potential risk factors, the presence and severity of somatic, psychological and urogenital symptoms and of anxiety/depression. Results: Of 251 women included, 137 (54.6%) were post-, 70 (27.9%) peri- and 44 (17.5%) pre-menopausal, respectively. Median age of onset menopause was 48 years (IQR 45-50). The proportions of pre-, peri- and post-menopausal women who had experienced any menopausal symptoms were 45.5%, 60.0% and 66.4%, respectively. Both peri- and post-menopause were associated with a higher likelihood of having somatic symptoms (aOR 3.01; 95% CI 1.38-6.55 and 2.63; 1.44-4.81, respectively), while post-menopause increased the likelihood of having psychological (2.16; 1.13-4.14) and urogenital symptoms (2.54; 1.42-4.85). By other hand, post-menopausal women had a statistically significant five-fold increase in the likelihood of presenting severe urogenital symptoms than pre-menopausal women (4.90; 1.74-13.84). No significant differences by menopausal status were found for anxiety/depression. Joint/muscle problems, exhaustion and sleeping disorders were the most commonly reported symptoms among all women. Differences in the prevalences of vaginal dryness (p = 0.002), joint/muscle complaints (p = 0.032), and sweating/flush (p = 0.032) were found among the three groups. Conclusions: Women living with HIV experienced a wide variety of menopausal symptoms, some of them initiated before women had any menstrual irregularity. We found a higher likelihood of somatic symptoms in peri- and post-menopausal women, while a higher likelihood of psychological and urogenital symptoms was found in post-menopausal women. Most somatic symptoms were of low or moderate severity, probably due to the good clinical and immunological situation of these women

Discovering HIV related information by means of association rules and machine learning

Acquired immunodeficiency syndrome (AIDS) is still one of the main health problems worldwide. It is therefore essential to keep making progress in improving the prognosis and quality of life of affected patients. One way to advance along this pathway is to uncover connections between other disorders associated with HIV/AIDS-so that they can be anticipated and possibly mitigated. We propose to achieve this by using Association Rules (ARs). They allow us to represent the dependencies between a number of diseases and other specific diseases. However, classical techniques systematically generate every AR meeting some minimal conditions on data frequency, hence generating a vast amount of uninteresting ARs, which need to be filtered out. The lack of manually annotated ARs has favored unsupervised filtering, even though they produce limited results. In this paper, we propose a semi-supervised system, able to identify relevant ARs among HIV-related diseases with a minimal amount of annotated training data. Our system has been able to extract a good number of relationships between HIV-related diseases that have been previously detected in the literature but are scattered and are often little known. Furthermore, a number of plausible new relationships have shown up which deserve further investigation by qualified medical experts

Podcasts como ferramenta para aprender sobre Direito

La proliferación de nuevas formas de transmisión del conocimiento, así como de su difusión constituye una oportunidad que la enseñanza del Derecho no puede dejar pasar. La elaboración de podcast o podcasting con fines educativos o de aplicación a la docencia ha sido ya objeto de utilización en el contexto anglosajón y, en un nivel mucho menor, en el contexto español. Como ya alude Piñero-Otero, T. en su investigación “La utilización de los podcasts en la universidad española: entre la institución y la enseñanza”, la incorporación de los podcasts como herramienta docente en las universidades españolas fue tardía respecto a otras universidades, como las norteamericanas. Y, no sólo eso, sino que su aplicación en la práctica es escasa. Los podcasts muestran relevantes potencialidades para la formación universitaria y, en específico, para la formación en Derecho. El formato de fragmentos o episodios de audio que desarrollan conocimiento, online, público, gratuito y accesible en cualquier momento se evidencia pertinente para captar el interés del estudiantado. Evidencia que queda patente en los estudios que ya han aplicado esta herramienta. El presente proyecto busca fomentar la extensión de este instrumento en el entorno universitario como recurso formativo complementario y de apoyo a la clase magistral y práctica establecida en la regulación de las enseñanzas superiores. Tal y como se ha apuntado en numerosas ocasiones por docentes que ya han aplicado los podcasts en la educación, se trata de una fuente más que, en ningún caso, se propone como sustitutoria de las clases ordinarias. Ello supondría el desencadenamiento de efectos negativos como una insuficiencia de formación, falta de intercambio de pensamiento y debate y riesgo de asistencia y participación en el aula, entre otros. Respecto de este último aspecto, estudios como el de Parson, V., Reddy, P., Wood, J. y Senior, C. (2009), “Educating and iPod generation: undergraduate attitudes, experiences and understanding of vodcast and podcast use”, reflejan que los estudiantes consideran como un aspecto muy positivo el hecho de que los podcasts permitan aprender y revisar el contenido de la asignatura; aspecto que quedaría desvirtuado si la docencia tradicional quedará completamente subsumida al empleo del podcast.El objetivo del Proyecto de Innovación Docente es ofrecer una herramienta para el aprendizaje del Derecho, basada en la digitalización mediante podcast, que permita a los estudiantes disponer de contenidos jurídicos para su proceso formativo.The aim of the Teaching Innovation Project is to offer a tool for learning law, based on digitalisation through podcasts, which allows students to have access to legal content for their learning process.L'obiettivo del Progetto di Innovazione Didattica è quello di offrire uno strumento per l'apprendimento del diritto, basato sulla digitalizzazione attraverso i podcast, che permetta agli studenti di avere accesso a contenuti giuridici per il loro processo di formazione.O objetivo do Projeto de Inovação Didática é oferecer uma ferramenta de aprendizagem do direito, baseada na digitalização através de podcasts, que permita aos estudantes ter acesso a conteúdos jurídicos para o seu processo de formação.Depto. de Derecho del Trabajo y Seguridad SocialFac. de DerechoFALSEsubmitte