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

Micro-trayectorias de pensamiento científico, colaboración y compromiso cognitivo en niños escolares interactuando con un videojuego

Objetivo. Caracterizar las trayectorias de la colaboración y el compromiso en estudiantes en segundo y tercer grado de primaria, al enfrentarse a un videojuego que implica pensamiento científico. Método. Se realizó un estudio cuantitativo de diseño microgenético, a través de la aplicación de un videojuego durante 9 sesiones a 7 diadas en edades entre 8 y 10 años. Resultados. Se categorizaron las diadas de acuerdo a su colaboración, encontrando que la diada 3 mostró una tendencia a colaborar, las diadas 4 y 6 oscilaron en los tipos de colaboración (trabajo colaborativo, trabajo paralelo, trabajo pasivo y no trabajo) a lo largo del proyecto y la diada 5 se concentró en el trabajo pasivo. Las diadas reportaron altos niveles de compromiso durante las primeras sesiones y solo algunas de ellas disminuyeron hacia el final de las aplicaciones. El índice de error que arrojaron las diadas varió dependiendo de la categoría de la colaboración, la diada 3 y la diada 5 mostraron disminución del error, mientras que en la diada 4 y 6 el error osciló en niveles altos y bajos. Conclusiones. Las diadas que presentaron un tipo de colaboración organizada (trabajo colaborativo y trabajo pasivo) mostraron una disminución en su índice de error, a diferencia de las diadas con trabajos más oscilante. Las variables de compromiso e índice de error son emergentes y no se ven directamente relacionadas entre ellas, sino que hacen parte de las múltiples variables que se presentan durante el uso del videojuego

Micro-trayectorias de pensamiento científico y colaboración en estudiantes de primaria interactuando con un videojuego

Objetivo: Caracterizar las trayectorias de la colaboración entre estudiantes en segundoy tercer grado de primaria, al resolver un videojuego que demanda pensamiento científico. Método: Se realizó un estudio cuantitativo de diseño microgenético, a través de la aplicación de un videojuego de resolución de problema multivariado durante 9 sesiones a 4 diadas de niños entre 8 y 10 años de edad. Resultados: Se categorizaron las diadas de acuerdo a su colaboración, una diada mostró una tendencia a colaborar, dos diadas oscilaron en los tipos de colaboración (trabajo colaborativo, trabajo paralelo, trabajo pasivo y no trabajo) y la última diada se concentró en el trabajo pasivo. El desempeño en pensamiento científico varió dependiendo de la categoría de la colaboración, dos diadas mostraron mejora en el desempeño, mientras que en los dos restantes el desempeño osciló en niveles altos y bajos. Conclusiones: Las diadas que presentaron un tipo de interacción organizada (trabajo colaborativo y trabajo pasivo) mostraron un mejor desempeño en pensamiento científico, comparadas con las diadas que mostraron una colaboración más oscilant

Micro-trayectorias de pensamiento científico y colaboración en estudiantes de primaria interactuando con un videojuego

Objetivo: Caracterizar las trayectorias de la colaboración entre estudiantes en segundo y tercer grado de primaria, al resolver un videojuego que demanda pensamiento científico. Método: Se realizó un estudio cuantitativo de diseño microgenético, a través de la aplicación de un videojuego de resolución de problema multivariado durante 9 sesiones a 4 diadas de niños entre 8 y 10 años de edad. Resultados: Se categorizaron las diadas de acuerdo a su colaboración, una diada mostró una tendencia a colaborar, dos diadas oscilaron en los tipos de colaboración (trabajo colaborativo, trabajo paralelo, trabajo pasivo y no trabajo) y la última diada se concentró en el trabajo pasivo. El desempeño en pensamiento científico, varió dependiendo de la categoría de la colaboración, dos diadas mostraron mejora en el desempeño, mientras que en los dos restantes el desempeño osciló en niveles altos y bajos. Conclusiones: Las diadas que presentaron un tipo de interacción organizada (trabajo colaborativo y trabajo pasivo) mostraron un mejor desempeño en pensamiento científico, comparadas con las diadas que mostraron una colaboración más oscilante

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

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