Utilidad del cariotipo molecular (array CGH) para el diagnóstico etiológico en los niños afectos de discapacidad intelectual

Introducción. El retraso mental en la infancia es un problema que afecta aproximadamente a un 3% de la población, estimándose que en más de un 50% puede existir una causa genética subyacente. El diagnóstico etiológico de estos pacientes puede llegar a ser sumamente difícil, requiriendo en muchos casos una aproximación estructurada. La aparición de nuevas herramientas diagnósticas, como el cariotipo molecular (array CGH) está permitiendo diagnosticar y, consecuentemente, asesorar adecuadamente a las familias sobre las causas del problema en su hijo y sus consecuencias reproductivas, a un grupo de pacientes que antes no era susceptible de dichos diagnósticos. Objetivos del presente trabajo. Objetivo principal. Analizar los resultados de la utilización del cariotipo molecular para el diagnóstico etiológico de pacientes con discapacidad intelectual/ retraso mental, con o sin malformaciones congénitas asociadas y con o sin trastornos del espectro autista en pacientes pediátricos atendidos en el Hospital Universitario Virgen del Rocío de Sevilla, determinando las alteraciones cromosómicas encontradas en este grupo de pacientes. -Relacionar las alteraciones encontradas con las alteraciones padecidas por los pacientes estudiados. -Establecer cuando ello sea posible, patrones de herencia específicos de estas alteraciones. -Analizar qué datos clínicos son más susceptibles de ser sugerentes de presentar alteraciones que puedan ser detectadas mediante array CGH con objeto de seleccionar mejor a la población diana de esta patología en el futuro. Material y métodos. Estudio retrospectivo de los pacientes pediátricos atendidos en las consultas de neuropediatría y dismorfología del Hospital Universitario Virgen del Rocío desde el año 2012 a 2014 afectos de retraso mental, dismorfias, malformaciones o trastornos del espectro autista en los cuales no se había llegado a un diagnóstico etiológico. Esto ocupa 142 pacientes diferentes que son TODOS los pacientes en los que se ha solicitado esta prueba diagnóstica. Resultados. Se han analizado 142 pacientes, fundamentalmente pediátricos. Del total de los pacientes, se encontraron alteraciones en el array CGH en 37 de ellos, 18 varones y 19 mujeres, un 29,5 % de los casos, de los cuales 29 pacientes (un 20,4% del total) se consideraron como patológicos, y 8 (5,6% del total) se consideraron como de significado clínico incierto. Conclusiones. 1.-La utilización del cariotipo molecular permite el diagnóstico etiológico en más de un 20 % de pacientes afectos de discapacidad intelectual con o sin dismorfias o malformaciones congénitas, diagnóstico etiológico difícilmente alcanzable con otras técnicas diagnósticas. 2.-La detección de una alteración detectada mediante el cariotipo molecular, complementada con estudios adicionales en los padres y/o el paciente como FISH, permite determinar si dicha alteración ocurrió de novo o existen en los progenitores factores de riesgo adicionales como la presencia de una traslocación equilibrada. El conocimiento de esta información en los pacientes en que ha sido posible obtenerla permite un adecuado consejo genético y asesoramiento reproductivo. 3.-No hemos encontrado diferencias significativas desde el punto de vista clínico entre los pacientes con retraso mental, dismorfias y/o malformaciones congénitas que nos permitan afinar más para aumentar el rendimiento del cariotipo molecular por lo que dicha prueba consideramos que debe aplicarse a todos los pacientes que cumplan alguna de estas condiciones y en los que no se haya podido establecer el diagnóstico etiológico por otros medios. 4.-Dado que en todos los pacientes con array alterado se han realizado con anterioridad estudios metabólicos o genéticos de otra naturaleza con resultados normales, la aplicación más precoz del array CGH podría adelantar el proceso diagnóstico evitando así pruebas infructuosas. No obstante, este punto concreto no ha sido específicamente abordado en el trabajo por lo que no pueden establecerse conclusiones específicas. 5.-La interpretación de los resultados del cariotipo molecular no siempre coincide con el sugerido por el técnico interpretador del estudio tras su realización y es tras la correlación clínico-genética cuando pueden establecerse conclusiones coherentes en muchos casos. Esto implica que la utilización de estos estudios debe acompañarse de una adecuada formación en genética de los médicos solicitadores de estudios genéticos o que puedan interactuar con los realizadores de los estudios para poder mejorar dicha interpretación de resultados

Digital Education and Artistic-Visual Learning in Flexible University Environments: Research Analysis

The constant development of digital technologies has allowed living in a digital environment based on connections, also transforming the context of the educational process. Experiences show that digital technologies have influenced the way of learning and, consequently, the way of teaching. Learning in the digital age is a complex process since it is a multifaceted and diverse action. The aim of this research is to identify global trends in digital education and its link with the learning of artistic and visual education in higher education settings, during the period 2000–2019. For this, bibliometric techniques have been applied to 1291 documents, obtaining results from the scientific activity of the main authors, research institutions, and countries that promote this topic. The data show increasing relevance, particularly in the last three years. The main subject area is the social sciences. The study has detected the lines of research that are related to the Internet, education, visuals, computer programs, learning, digital media literacy, and educational technology. This work contributes to the academic, scientific, and institutional debate to enhance decision-making based on existing information

Evaluation of an innovative teaching methodology for engineering involving companies and ICTs in a flipped classroom

This work presents an innovative education experience for engineering students, with the objective of connecting students to labor market, in the context of the regular subject practices, with the analysis of real cases of companies, and using as tools the ICTs and the flipped learning methodology. The assessment of the impact of this innovation education action consisted on the creation of data bases, and the organization of lecturers´ panels, and surveys for students and teachers. The most outstanding drawback raised by teachers was the lack of alignment between the companies’ needs and the curricula of the students. The students appreciated this kind of activity in the subject practices. The students also considered positive the use of ICTs as part of this innovative teaching-learning process, which are familiar technologies for them. According to the teachers, the action contributed to improve autonomous and collaborative teaching in Higher Education

C-reactive protein cut-off for early tocilizumab and dexamethasone prescription in hospitalized patients with COVID-19

Dexamethasone and tocilizumab have been associated with reduction in mortality, however, the beneficial effect is not for all patients and the impact on viral replication is not well defined. We hypostatized that C-reactive protein (CRP) could help in the identification of patients requiring anti-inflammatory therapy. Patients admitted for > 48 h in our hospital for a confirmed or suspected infection by SARS-CoV-2 from February 2020 to February 2021 were retrospectively evaluated. The primary outcome was mortality at 30 days. Demographics and the most relevant variables related with the outcome were included. CRP was stratified by percentiles. Univariate and multivariate analysis were performed. A total of 3218 patients were included with a median (IQR) age of 66 (74-78) years and 58.9% were males. The rate of intensive care unit admission was 24.4% and the 30-day mortality rate was 11.8%. Within the first 5 days from admission, 1018 (31.7%) patients received dexamethasone and 549 tocilizumab (17.1%). The crude analysis showed a mortality reduction in patients receiving dexamethasone when CRP was > 13.75 mg/dL and > 3.5 mg/dL for those receiving tocilizumab. Multivariate analysis identified the interaction of CRP > 13.75 mg/dL with dexamethasone (OR 0.57; CI 95% 0.37-0.89, P = 0014) and CRP > 3.5 mg/dL with tocilizumab (0.65; CI95%:0.44-0.95, P = 0.029) as independent predictors of mortality. Our results suggest that dexamethasone and tocilizumab are associated with a reduction in mortality when prescribed to patients with a certain inflammatory activity assessed by C-reactive protein

Les Qüestions socialment vives i l'ensenyament de les ciències socials

Ponències presentades a les VII Jornades Internacionals de Recerca en Didàctica de les Ciències Socials, organitzades per la Unitat de Didàctica de les Ciències Socials de la Universitat Autònoma de Barcelona, febrer de 2010

Compromising between European and US allergen immunotherapy schools: Discussions from GUIMIT, the Mexican immunotherapy guidelines

Background: Allergen immunotherapy (AIT) has a longstanding history and still remains the only disease-changing treatment for allergic rhinitis and asthma. Over the years 2 different schools have developed their strategies: the United States (US) and the European. Allergen extracts available in these regions are adapted to local practice. In other parts of the world, extracts from both regions and local ones are commercialized, as in Mexico. Here, local experts developed a national AIT guideline (GUIMIT 2019) searching for compromises between both schools. Methods: Using ADAPTE methodology for transculturizing guidelines and AGREE-II for evaluating guideline quality, GUIMIT selected 3 high-quality Main Reference Guidelines (MRGs): the European Academy of Allergy, Asthma and Immunology (EAACI) guideines, the S2k guideline of various German-speaking medical societies (2014), and the US Practice Parameters on Allergen Immunotherapy 2011. We formulated clinical questions and based responses on the fused evidence available in the MRGs, combined with local possibilities, patient's preference, and costs. We came across several issues on which the MRGs disagreed. These are presented here along with arguments of GUIMIT members to resolve them. GUIMIT (for a complete English version, see Supplementary data) concluded the following: Results: Related to the diagnosis of IgE-mediated respiratory allergy, apart from skin prick testing complementary tests (challenges, in vitro testing and molecular such as species-specific allergens) might be useful in selected cases to inform AIT composition. AIT is indicated in allergic rhinitis and suggested in allergic asthma (once controlled) and IgE-mediated atopic dermatitis. Concerning the correct subcutaneous AIT dose for compounding vials according to the US school: dosing tables and formula are given; up to 4 non-related allergens can be mixed, refraining from mixing high with low protease extracts. When using European extracts: the manufacturer's indications should be followed; in multi-allergic patients 2 simultaneous injections can be given (100% consensus); mixing is discouraged. In Mexico only allergoid tablets are available; based on doses used in all sublingual immunotherapy (SLIT) publications referenced in MRGs, GUIMIT suggests a probable effective dose related to subcutaneous immunotherapy (SCIT) might be: 50–200% of the monthly SCIT dose given daily, maximum mixing 4 allergens. Also, a table with practical suggestions on non-evidence-existing issues, developed with a simplified Delphi method, is added. Finally, dissemination and implementation of guidelines is briefly discussed, explaining how we used online tools for this in Mexico. Conclusions: Countries where European and American AIT extracts are available should adjust AIT according to which school is followed

Role of age and comorbidities in mortality of patients with infective endocarditis

[Purpose]: The aim of this study was to analyse the characteristics of patients with IE in three groups of age and to assess the ability of age and the Charlson Comorbidity Index (CCI) to predict mortality. [Methods]: Prospective cohort study of all patients with IE included in the GAMES Spanish database between 2008 and 2015.Patients were stratified into three age groups:<65 years,65 to 80 years,and ≥ 80 years.The area under the receiver-operating characteristic (AUROC) curve was calculated to quantify the diagnostic accuracy of the CCI to predict mortality risk. [Results]: A total of 3120 patients with IE (1327 < 65 years;1291 65-80 years;502 ≥ 80 years) were enrolled.Fever and heart failure were the most common presentations of IE, with no differences among age groups.Patients ≥80 years who underwent surgery were significantly lower compared with other age groups (14.3%,65 years; 20.5%,65-79 years; 31.3%,≥80 years). In-hospital mortality was lower in the <65-year group (20.3%,<65 years;30.1%,65-79 years;34.7%,≥80 years;p < 0.001) as well as 1-year mortality (3.2%, <65 years; 5.5%, 65-80 years;7.6%,≥80 years; p = 0.003).Independent predictors of mortality were age ≥ 80 years (hazard ratio [HR]:2.78;95% confidence interval [CI]:2.32–3.34), CCI ≥ 3 (HR:1.62; 95% CI:1.39–1.88),and non-performed surgery (HR:1.64;95% CI:11.16–1.58).When the three age groups were compared,the AUROC curve for CCI was significantly larger for patients aged <65 years(p < 0.001) for both in-hospital and 1-year mortality. [Conclusion]: There were no differences in the clinical presentation of IE between the groups. Age ≥ 80 years, high comorbidity (measured by CCI),and non-performance of surgery were independent predictors of mortality in patients with IE.CCI could help to identify those patients with IE and surgical indication who present a lower risk of in-hospital and 1-year mortality after surgery, especially in the <65-year group

Las unidades de deshabituación tabáquica como oportunidad para el diagnóstico de EPOC: el proyecto 1000-200

This study received an unconditional grant from GlaxoSmithKline Laboratories Spain