De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits:report of 25 new individuals and review of the literature

TBR1, a T-box transcription factor expressed in the cerebral cortex, regulates the expression of several candidate genes for autism spectrum disorders (ASD). Although TBR1 has been reported as a high-confidence risk gene for ASD and intellectual disability (ID) in functional and clinical reports since 2011, TBR1 has only recently been recorded as a human disease gene in the OMIM database. Currently, the neurodevelopmental disorders and structural brain anomalies associated with TBR1 variants are not well characterized. Through international data sharing, we collected data from 25 unreported individuals and compared them with data from the literature. We evaluated structural brain anomalies in seven individuals by analysis of MRI images, and compared these with anomalies observed in TBR1 mutant mice. The phenotype included ID in all individuals, associated to autistic traits in 76% of them. No recognizable facial phenotype could be identified. MRI analysis revealed a reduction of the anterior commissure and suggested new features including dysplastic hippocampus and subtle neocortical dysgenesis. This report supports the role of TBR1 in ID associated with autistic traits and suggests new structural brain malformations in humans. We hope this work will help geneticists to interpret TBR1 variants and diagnose ASD probands

Effects of ecosystem protection on scallop populations within a community-led temperate marine reserve

This study investigated the effects of a newly established, fully protected marine reserve on benthic habitats and two commercially valuable species of scallop in Lamlash Bay, Isle of Arran, United Kingdom. Annual dive surveys from 2010 to 2013 showed the abundance of juvenile scallops to be significantly greater within the marine reserve than outside. Generalised linear models revealed this trend to be significantly related to the greater presence of macroalgae and hydroids growing within the boundaries of the reserve. These results suggest that structurally complex habitats growing within the reserve have substantially increased spat settlement and/or survival. The density of adult king scallops declined threefold with increasing distance from the boundaries of the reserve, indicating possible evidence of spillover or reduced fishing effort directly outside and around the marine reserve. However, there was no difference in the mean density of adult scallops between the reserve and outside. Finally, the mean age, size, and reproductive and exploitable biomass of king scallops were all significantly greater within the reserve. In contrast to king scallops, the population dynamics of queen scallops (Aequipecten opercularis) fluctuated randomly over the survey period and showed little difference between the reserve and outside. Overall, this study is consistent with the hypothesis that marine reserves can encourage the recovery of seafloor habitats, which, in turn, can benefit populations of commercially exploited species, emphasising the importance of marine reserves in the ecosystem-based management of fisheries

Extracorporeal Membrane Oxygenation for Severe Acute Respiratory Distress Syndrome associated with COVID-19: An Emulated Target Trial Analysis.

RATIONALE: Whether COVID patients may benefit from extracorporeal membrane oxygenation (ECMO) compared with conventional invasive mechanical ventilation (IMV) remains unknown. OBJECTIVES: To estimate the effect of ECMO on 90-Day mortality vs IMV only Methods: Among 4,244 critically ill adult patients with COVID-19 included in a multicenter cohort study, we emulated a target trial comparing the treatment strategies of initiating ECMO vs. no ECMO within 7 days of IMV in patients with severe acute respiratory distress syndrome (PaO2/FiO2 <80 or PaCO2 ≥60 mmHg). We controlled for confounding using a multivariable Cox model based on predefined variables. MAIN RESULTS: 1,235 patients met the full eligibility criteria for the emulated trial, among whom 164 patients initiated ECMO. The ECMO strategy had a higher survival probability at Day-7 from the onset of eligibility criteria (87% vs 83%, risk difference: 4%, 95% CI 0;9%) which decreased during follow-up (survival at Day-90: 63% vs 65%, risk difference: -2%, 95% CI -10;5%). However, ECMO was associated with higher survival when performed in high-volume ECMO centers or in regions where a specific ECMO network organization was set up to handle high demand, and when initiated within the first 4 days of MV and in profoundly hypoxemic patients. CONCLUSIONS: In an emulated trial based on a nationwide COVID-19 cohort, we found differential survival over time of an ECMO compared with a no-ECMO strategy. However, ECMO was consistently associated with better outcomes when performed in high-volume centers and in regions with ECMO capacities specifically organized to handle high demand. This article is open access and distributed under the terms of the Creative Commons Attribution Non-Commercial No Derivatives License 4.0 (http://creativecommons.org/licenses/by-nc-nd/4.0/)

Defensas ribereñas con gaviones en el Norte del Perú

El presente informe tiene la finalidad de optar el título de Ingeniero Civil por Experiencia Profesional en la modalidad de Actualización de Conocimientos. Este informe tiene como propósito enfocar los pasos a tener en cuenta, para la elaboración de los estudios y construcción de Defensas Ribereñas, teniendo como experiencia las obras o defensas ribereñas en el Norte del País, que se ejecutaron por parte del INDECI (Instituto Nacional de Defensa Civil) para prevenir los efectos que produjera el último fenómeno denominado El Niño (1997 - 1998), cuando algunas de las obras colapsaron. Así mismo se plantea una alternativa en el tipo de material a utilizar, con ventajas respecto al material tipo convencional con que se vienen construyendo las defensas ribereñas (concreto armado, concreto ciclópeo, enrocados, etc.) a nivel nacional. La alternativa planteada ya es conocida en el medio de la construcción hidráulica, y se denomina “Gaviones”. Estas se definen como elementos en forma de prisma rectangular que están conformados por mallas de alambre tejidas, de sección hexagonal y que van rellenas de piedras. Estos productos fueron utilizados y creados por primera vez a finales del siglo pasado en Italia, y a través de los años su aplicación se ha extendido a todo el mundo. Hoy son empleados habitualmente para las sistematizaciones de cursos de agua, para contención y protección de carreteras, poblados e instalaciones para las defensas de riberas, costas, etc. Los gaviones están constituidos por alambres que se tejen, los mismos que pueden ser de Zinc, Aluminio o también recubiertos por PVC dependiendo de la zona donde se construya la estructura. Las mallas al ser rellenadas con piedras nos brindan estructuras más flexibles, monolíticas, permeables y armadas, que encuentran una adecuada aplicación en distintas áreas. También representa una solución más rápida y económica debido a que no se necesita de mano de obra calificada en la construcción. Además, un punto muy importante a favor de los gaviones es su un impacto ambiental positivo sobre la naturaleza, debido a que con el tiempo crece vegetación entre los espacios vacíos de las piedras, haciendo más estable el sistema ecológico. Los materiales de los gaviones y colchones reno que se trataran en este informe, son redes de alambre tejidas a doble torsión, que han sido utilizados durante más de un siglo para la construcción de obras hidráulicas y viales. Por su propia naturaleza, estos materiales tienen la capacidad de integrarse al terreno circundante, asegurando así el éxito de la obra llevada a cabo. Cabe señalar que su extrema simplicidad, a veces no pareciera no estar acorde con la era de innovaciones tecnológicas que vivimos. Sin embargo, la realidad indica que su capacidad para drenar libremente y tolerar asentamientos, así como el desarrollo de vegetación, todo esto junto a su gran resistencia, nos permite documentar su gran confiabilidad y su armonía con el medio ambiente.Trabajo de suficiencia profesiona

Le portage de bactéries multi-résistantes est-il associé à un risque d'infections liées aux cathéters veineux centraux ?

PARIS6-Bibl.Pitié-Salpêtrie (751132101) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

Étude clinique de 39 observations d'hypothermie accidentelle de l'adulte

SCOPUS: ar.jinfo:eu-repo/semantics/publishe

Liderazgo juvenil universitario marcando oportunidades laborales a través del emprendimiento social

Ante la significativa tasa de desempleo juvenil, los jóvenes universitarios han visto en el emprendimiento social, una salida viable y coherente con sus aspiraciones donde el liderazgo juega un papel decisivo en el desarrollo de sus proyectos, de allí que en el presente artículo se pretende analizar el efecto de los estilos de liderazgo en la intención emprendedora social de jóvenes de la Universidad de Cuenca desde la Teoría de Rango Completo, puesto que presenta un modelo integrador para su análisis. Metodológicamente, se emplea un diseño mixto cuantitativo-cualitativo empleando como técnicas de recolección de información a la encuesta y la entrevista. Para el procesamiento de los datos se utilizan las técnicas de análisis: estadística descriptiva, análisis ANOVA de un factor, análisis de regresión múltiple y análisis de discurso. Así se encontró que los jóvenes universitarios que trabajan tienen una mayor intención emprendedora social, los estilos de liderazgo tienen diferencias extremadamente significativas en la intención emprendedora social de los estudiantes hombres y diferencias muy significativas en el caso de las estudiantes mujeres, además que los estilos de liderazgo explican en un 20% la intención emprendedora social y por último, los tres estilos de liderazgo explican el resultado de extraesfuerzo y el liderazgo transformacional y transaccional los resultados de: satisfacción y eficacia. Con esta información se verifica la hipótesis de que quienes ejercen el liderazgo transformacional tienen una mayor intención emprendedora social. Por esto, se recomienda profundizar la investigación en estas áreas y fomentar su formación en el entorno universitario.Faced with the significant youth unemployment rate, young university students have seen in social entrepreneurship, a viable and coherent solution with their aspirations where leadership plays a decisive role in the development of their projects, hence the aim of this article to analyze the effect of leadership styles on the social entrepreneurial intention of young people from the University of Cuenca from the Full Range Theory, since it presents an integrative model for its analysis. Methodologically, a mixed quantitative-qualitative design is used, using the survey and interview as information gathering techniques. Analysis techniques are used for data processing: descriptive statistics, one-factor ANOVA analysis, multiple regression analysis, and discourse analysis. Thus, it was found that young university students who work have a greater social entrepreneurial intention, leadership styles have extremely significant differences in the social entrepreneurial intention of male students and very significant differences in the case of female students, in addition to the styles of Leadership explains the social entrepreneurial intention by 20% and finally, the three leadership styles explain the result of extra effort and transformational and transactional leadership the results of: satisfaction and effectiveness. With this information, the hypothesis that those who exercise transformational leadership have a greater social entrepreneurial intention is verified. For this reason, it is recommended to deepen research in these areas and promote their training in the university environment.SociólogoCuenc

An holistic approach of international collaborations in marine sciences.: From Buzios 2013 to Brest 2014

Cover illustration and graphic design : Sébastien Hervé / UBO-IUEM ;Coord : Dominique SimonFrom the beginning, the Buzios whorkshop was conceived and built to be an exceptional workshop or meeting, based firmly on a common desire to determine new shared perspectives on the marine sciences. Six months later, we can look back and say that it was a highly original and ambitious venture

The relevance of motivation in schizophrenia

Lately there is a growing interest in the negative symptoms in schizophrenia and their mechanisms of action, with special focus on the motivation process. The lack of motivation is increasingly recognized to be a very important impediment to positive management in schizophrenic pathology. In this mini-review, we described the current understanding of the nature and causes of the specific motivational deficits in schizophrenia in order to find better management strategies for this heterogeneous disorder. All the data and theories presented here clearly demonstrate that amotivation is a fundamental aspect of the negative symptomatology in schizophrenia and could represent a useful factor in understanding and improving the mechanisms and further management of schizophrenia