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

Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2

The pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2, COVID-19) had an estimated overall case fatality ratio of 1.38% (pre-vaccination), being 53% higher in males and increasing exponentially with age. Among 9578 individuals diagnosed with COVID-19 in the SCOURGE study, we found 133 cases (1.42%) with detectable clonal mosaicism for chromosome alterations (mCA) and 226 males (5.08%) with acquired loss of chromosome Y (LOY). Individuals with clonal mosaic events (mCA and/or LOY) showed a 54% increase in the risk of COVID-19 lethality. LOY is associated with transcriptomic biomarkers of immune dysfunction, pro-coagulation activity and cardiovascular risk. Interferon-induced genes involved in the initial immune response to SARS-CoV-2 are also down-regulated in LOY. Thus, mCA and LOY underlie at least part of the sex-biased severity and mortality of COVID-19 in aging patients. Given its potential therapeutic and prognostic relevance, evaluation of clonal mosaicism should be implemented as biomarker of COVID-19 severity in elderly people. Among 9578 individuals diagnosed with COVID-19 in the SCOURGE study, individuals with clonal mosaic events (clonal mosaicism for chromosome alterations and/or loss of chromosome Y) showed an increased risk of COVID-19 lethality

Evolving Trends in Neuropsychological Profiles of Post COVID-19 Condition: A 1-Year Follow-up in Individuals with Cognitive Complaints

Background: Cognitive difficulties are reported as lasting sequelae within post COVID-19 condition. However, the chronicity of these difficulties and related factors of fatigue, mood, and perceived health have yet to be fully determined. More longitudinal studies are needed to clarify the trends of cognitive test performance and cognitive domain impairment following COVID-19 onset, and whether hospitalization influences outcomes. Methods: 57 participants who reported subjective cognitive difficulties after confirmed COVID-19 infection were assessed at baseline (~6 months post COVID-19) and follow-up (~15 months later) visits. Assessments included measures across multiple cognitive domains and self-report questionnaires of fatigue, mood, and overall health. Analyses were conducted in three stages: at the test score level (raw and adjusted scores), at the cognitive domain level, and stratified by hospitalization status during infection. Results: Impacts on cognitive test scores remain stable across assessments. Cognitive domain analyses indicate significant reductions in attention and executive functioning impairment, while memory impairment is slower resolve. On self-report measures, there was a significant improvement in overall health ratings at follow-up. Finally, those hospitalized during infection performed worse on timed cognitive measures across visits and accounted for a larger proportion of cases with short-term and working memory impairment at follow-up. Conclusions: Cognitive difficulties persist both at test score and cognitive domain levels in many cases of post COVID-19 condition, but evidence suggests some improvement in global measures of attention, executive functioning and overall self-rated health. An effect of hospitalization on cognitive symptoms post COVID-19 may be more discernible over time

Post-COVID-19 fatigue: the contribution of cognitive and neuropsychiatric symptoms

Fatigue in its many forms of physical, mental, and psychosocial exhaustion is a common symptom of post-COVID-19 condition, also known as “Long COVID.” Persistent fatigue in COVID-19 patients is frequently accompanied by cognitive dysfunction and neuropsychiatric symptoms; however, less is known about the relationships between these components of post-COVID-19 condition and fatigue itself. Consequently, the present study sought to (1) distinguish the types of fatigue experienced by participants, and (2) investigate whether cognitive deficits across various domains and neuropsychiatric conditions predicted these different types of fatigue. The study included 136 COVID-19 patients referred for neuropsychological evaluation due to cognitive complaints 8 months on average after SARS-CoV-2 infection. Measures included self-reported fatigue (physical, cognitive, and psychosocial), neuropsychiatric questionnaires (assessing symptoms of depression, anxiety, apathy, and executive functioning), a comprehensive neuropsychological assessment, and self-reported quality of life and everyday functioning. Results showed that reports of clinical significant fatigue were pervasive in our sample (82.3% of participants), with physical fatigue rated highest on average relative to the subscale maximum. Elevated levels of apathy, anxiety, and executive dysfunction in neuropsychiatric measures along with executive and attentional difficulties on cognitive tests were found to be consistently important predictors among different types of fatigue. This implicates both cognitive and neuropsychiatric symptoms as predictors of fatigue in post-COVID-19 condition, and stresses the importance of a holistic approach in assessing and considering potential treatment for COVID-19 patients experiencing fatigue

Training programs in the practice of psychoterapy: development of evidence-based protocols and standards

PsiCall UCM, el servicio de atención psicológica por vía telemática a estudiantes de la UCM, recibe y forma a un porcentaje importante de cada promoción del MPGS, en un sistema de práctica clínica supervisada que recibe excelentes valoraciones. Sin embargo, hay espacio para la mejora de este sistema de supervisión, incorporando valoraciones objetivas de competencias clínicas mediante la observación directa. Para este fin El objetivo de este proyecto ha sido traducir al castellano y adaptar las escalas al contexto práctico de PsiCall UCM, para proceder a la hetero y auto observación sistemática de las competencias del estudiantado que se forma en PsiCall, antes, durante, y al final del sus prácticas. En el inicio del proyecto se partió de la traducción de las escalas CTS-R y CTACS. Una vez traducidas las escalas, se desarrollo un proceso de reflexión en varias rondas para señalar la adecuación de las diferentes competencias incluidas en las mismas al contexto de la Clínica Universitaria de Psicología UCM y el PsiCall UCM. Posteriormente, se desarrolló una ronda de revisión con los equipos de dirección, los becarios de ambos servicios, y con los profesionales externos. Todos ellos estudiaron el borrador de la escala y aportaron sugerencias que dieron lugar a modificaciones menores (cambios en la redacción del manual) o mayores (cambios en la estructura de la escala). Una vez alcanzada una versión final de la Escala de Competencias Clínicas, se derivaron versiones auto y hetero aplicadas mediante formularios en la suite de formularios de Google Drive. Se seleccionaron al azar una serie de interacciones de atención que fueron valoradas por el Coordinador del servicio, cuya valoración de las mismas mediante la escala se estableció como criterio experto. Posteriormente, los supervisores del PsiCall accedieron a las grabaciones ya valoradas, en primer lugar a modo de demostración, teniendo disponibles las valoraciones del Coordinador, en segundo lugar a modo de ensayo, pudiendo comparar sus valoraciones con las del Coordinador tras emitirlas mediante un formulario adaptado como cuestionario, y finalmente a modo de prueba de competencia con la escala. A partir de las valoraciones de esta última ronda se calculó el Índice de Correlacion Intraclase mediante un modelo mixto de acuerdo absoluto, con un intervalo de confianza del 95%. Se observo un buen índice de correlación intraclase de acuerdo con los valores convencionales de Fleiss (1986) (ICCA = 0,704; IC95% [,391 - ,897]; Fvv0(11,66) = 4,052, p < ,001). Este proceso ha culminado con el desarrollo de una escala de 12 elementos, en versiones auto y hetero aplicadas. Además de su validación mediante la consulta y las aportaciones del conjunto de profesionales implicados, la escala, en su versión hetero aplicada ha sido estudiada psicométricamente en cuanto a su fiabilidad interjueces, encontrado valores muy adecuados de acuerdo al índice de correlación intraclase en un modelo mixto de acuerdo absoluto. Las escalas, por tanto, están desarrolladas y listas para su uso en el contexto asistencial y docente del PsiCall UCM. Se dispone de un manual, de una guía de respuestas, y de formularios de recogida de información implementados en la plataforma Google Drive que permiten la recogida de datos de manera automatizada y totalmente pseudononimizada.PsiCall UCM, the online psychological care service for UCM students, receives and trains a significant percentage of each MPGS promotion in a supervised clinical practice system that receives excellent ratings. However, there is room for improvement in this supervision system, incorporating objective assessments of clinical competencies through direct observation. To this end, the objective of this project has been to translate into Spanish and adapt the scales to the practical context of PsiCall UCM, in order to proceed to the hetero and systematic self-observation of the competencies of the students who are trained in PsiCall, before, during, and at end of their practices. At the beginning of the project, we started with the translation of the CTS-R and CTACS scales. Once the scales were translated, a process of reflection was developed in several rounds to indicate the adequacy of the different competencies included in them to the context of the University Clinic of Psychology UCM and the PsiCall UCM. Subsequently, a review round was developed with the management teams, the interns from both services, and with external professionals. All of them studied the draft of the scale and provided suggestions that led to minor modifications (changes in the wording of the manual) or major (changes in the structure of the scale). Once a final version of the Clinical Competences Scale had been reached, self and hetero applied versions were derived using forms in the Google Drive suite of forms. A series of care interactions were randomly selected and assessed by the Service Coordinator, whose assessment of them using the scale was established as an expert criterion. Subsequently, the PsiCall supervisors accessed the already assessed recordings, firstly as a demonstration, having the Coordinator's assessments available, secondly as a trial, being able to compare their assessments with those of the Coordinator after issuing them using an adapted form as a questionnaire, and finally as a test of competence with the scale. From the evaluations of this last round, the Intraclass Correlation Index was calculated using a mixed model of absolute agreement, with a 95% confidence interval. A good intraclass correlation index was observed according to the conventional values ​​of Fleiss (1986) (ICCA = 0.704; 95% CI [.391 - .897]; Fvv0 (11.66) = 4.052, p <.001). This process has culminated in the development of a 12-element scale, in auto and hetero applied versions. In addition to its validation through consultation and the contributions of the group of professionals involved, the scale, in its hetero-applied version, has been psychometrically studied in terms of its inter-judge reliability, finding very adequate values ​​according to the intraclass correlation index in a mixed model in absolute agreement. The scales, therefore, are developed and ready for use in the PsiCall UCM healthcare and teaching context. There is a manual, a response guide, and information collection forms implemented on the Google Drive platform that allow the collection of data in an automated and totally pseudonymised way.Depto. de Personalidad, Evaluación y Psicología ClínicaFac. de PsicologíaFALSEUniversidad Complutense de Madridsubmitte

Impact on clinical practice of the implementation of guidelines for the toxicity management of targeted therapies in kidney cancer. The protect-2 study.

Journal Article;BACKGROUND The impact of such recommendations after their implementation of guidelines has not usually been evaluated. Herein, we assessed the impact and compliance with the Spanish Oncology Genitourinary Group (SOGUG) Guidelines for toxicity management of targeted therapies in metastatic renal cell carcinoma (mRCC) in daily clinical practice. METHODS Data on 407 mRCC patients who initiated first-line targeted therapy during the year before and the year after publication and implementation of the SOGUG guideline program were available from 34 Spanish Hospitals. Adherence to SOGUG Guidelines was assessed in every cycle. RESULTS Adverse event (AE) management was consistent with the Guidelines as a whole for 28.7 % out of 966 post-implementation cycles compared with 23.1 % out of 892 pre-implementation cycles (p = 0.006). Analysis of adherence by AE in non-compliant cycles showed significant changes in appropriate management of hypertension (33 % pre-implementation vs. 44.5 % post-implementation cycles; p < 0.0001), diarrhea (74.0 % vs. 80.5 %; p = 0.011) and dyslipemia (25.0 % vs. 44.6 %; p < 0.001). CONCLUSIONS Slight but significant improvements in AE management were detected following the implementation of SOGUG recommendations. However, room for improvement in the management of AEs due to targeted agents still remains and could be the focus for further programs in this direction.This study was funded by Pfizer, S.L.U. Medical writing assistance was provided by Esther Tapia, PhD and was founded by Pfizer.Ye

Manual de soporte vital avanzado en urgencias prehospitalarias: normas de actuación

O Manual de soporte vital avanzado en urgencias prehospitalarias adapta os procedementos e técnicas de actuación ás urxencias prehospitalarias ás últimas recomendacións en resucitación cardiopulmonar aprobadas polo International Liaison Commitee on Resuscitation en outubro do ano 2010.El Manual de soporte vital avanzado en urgencias prehospitalarias adapta los procedimientos y técnicas de actuación a las urgencias prehospitalarias a las últimas recomendaciones en resucitación cardiopulmonar aprobadas por el International Liaison Commitee on Resuscitation en octubre del año 2010

Revolution: Museo de las estrellas un paseo por la fama : Hollywood

Convocatoria proyectos de innovación de Extremadura 2020/2021Se describe un proyecto llevado a cabo entre 13 centros educativos extremeños que consistió en desarrollar cinco unidades de trabajo gamificadas, cinco historias detectivescas con misterios por resolver, donde se ponían a prueba las habilidades de lógica, la capacidad de observación, de concentración y de atención de los alumnos. Los objetivos principales de la propuesta fueron: promover la puesta en práctica de proyectos intercentros; impulsar pedagogías activas; desarrollar la competencia digital a través del uso de las pedagogías emergentes lo que ha permitido llevar a cabo una enseñanza presencial, híbrida y virtual y atender a la diversidadExtremaduraES

Contemporary use of cefazolin for MSSA infective endocarditis: analysis of a national prospective cohort

Objectives: This study aimed to assess the real use of cefazolin for methicillin-susceptible Staphylococcus aureus (MSSA) infective endocarditis (IE) in the Spanish National Endocarditis Database (GAMES) and to compare it with antistaphylococcal penicillin (ASP). Methods: Prospective cohort study with retrospective analysis of a cohort of MSSA IE treated with cloxacillin and/or cefazolin. Outcomes assessed were relapse; intra-hospital, overall, and endocarditis-related mortality; and adverse events. Risk of renal toxicity with each treatment was evaluated separately. Results: We included 631 IE episodes caused by MSSA treated with cloxacillin and/or cefazolin. Antibiotic treatment was cloxacillin, cefazolin, or both in 537 (85%), 57 (9%), and 37 (6%) episodes, respectively. Patients treated with cefazolin had significantly higher rates of comorbidities (median Charlson Index 7, P <0.01) and previous renal failure (57.9%, P <0.01). Patients treated with cloxacillin presented higher rates of septic shock (25%, P = 0.033) and new-onset or worsening renal failure (47.3%, P = 0.024) with significantly higher rates of in-hospital mortality (38.5%, P = 0.017). One-year IE-related mortality and rate of relapses were similar between treatment groups. None of the treatments were identified as risk or protective factors. Conclusion: Our results suggest that cefazolin is a valuable option for the treatment of MSSA IE, without differences in 1-year mortality or relapses compared with cloxacillin, and might be considered equally effective