Familial Psychosis Associated With a Missense Mutation at MACF1 Gene Combined With the Rare Duplications DUP3p26.3 and DUP16q23.3, Affecting the CNTN6 and CDH13 Genes

Psychosis is a highly heritable and heterogeneous psychiatric condition. Its genetic architecture is thought to be the result of the joint effect of common and rare variants. Families with high prevalence are an interesting approach to shed light on the rare variant's contribution without the need of collecting large cohorts. To unravel the genomic architecture of a family enriched for psychosis, with four affected individuals, we applied a system genomic approach based on karyotyping, genotyping by whole-exome sequencing to search for rare single nucleotide variants (SNVs) and SNP array to search for copy-number variants (CNVs). We identified a rare non-synonymous variant, g.39914279 C \textgreater G, in the MACF1 gene, segregating with psychosis. Rare variants in the MACF1 gene have been previously detected in SCZ patients. Besides, two rare CNVs, DUP3p26.3 and DUP16q23.3, were also identified in the family affecting relevant genes (CNTN6 and CDH13, respectively). We hypothesize that the co-segregation of these duplications with the rare variant g.39914279 C \textgreater G of MACF1 gene precipitated with schizophrenia and schizoaffective disorder

Integración IoT en servicios Web

[ES] En este trabajo esta orientado a Internet of Things, se ha desarrollado un sistema de coreografía en una RaspberryPI, para procesar los datos enviados por pequeños sensores y enviarlos a grandes grandes servicios como los servicios web o servicios en la nube. En este caso se implementará en un instituto de secundaria, con la finalidad de recibir los datos enviados por sensores de humedad instalados en el huerto de dicho instituto, para su posterior análisis y envío a distintos servicios. El sistema permite almacenar los datos recibidos en una base de datos local , la descarga de los datos a través de un navegador, la visualización por pantalla de dichos datos, la configuración del propio sistema para adaptarse al entorno, así como notificaciones al correo de los usuarios.[EN] This project is oriented to the Internet of Things scope.It has been an implementation of a coreography system in a RaspberryPI, in order to collect the data sended by small sensors and send it to big platforms like web services or cloud services. In this case, it’s going to be deployed in a high school where there are several humidity sensors installed in this high school’s yard. The data will be procesed by the system and sended to different services. The systems allows to store the data in a local database, fetching the data using a web browser, data visualization, configuring the system in order to fit the local enviroment and sending notifications to the user’s email.Benedito Fuster, J. (2018). Integración IoT en servicios Web. http://hdl.handle.net/10251/111154TFG

Resistencialisme i normalització: usos del passat i discursos culturals en la Catalunya contemporània

Peer-reviewedThe six articles comprising this Digithum dossier are revised versions of talks given at the international seminar ¿Resistencialisme i normalització: usos del passat i discursos culturals en la Catalunya contemporània¿ (Resistance and normalization: uses of the past and cultural discourses in contemporary Catalonia). That seminar, held in Barcelona on 13 and 14 December 2012, was the first in an annual series forming a part of the research project ¿Funcions del passat en la cultura catalana contemporània: institucionalització, representacions i identitat¿ (Functions of the past in contemporary Catalan culture: institutionalization, representations and identity) (FFI2011-24751), which will culminate in 2014 with an international congress. The project is associated with the research group on Language, Culture and Identity in the Global Age (Indenti.Cat) at the Universitat Oberta de Catalunya (Open University of Catalonia, UOC).Els sis articles que componen aquest dossier de Digithum són versions revisades de ponències presentades en el seminari internacional "Resistencialisme i normalització: usos del passat i discursos culturals en la Catalunya contemporània". Aquest seminari, dut a terme a Barcelona els dies 13 i 14 de desembre de 2012, és el primer d'una sèrie anual inscrita en el projecte de recerca Funcions del passat en la cultura catalana contemporània: institucionalització, representacions i identitat (FFI2011-24751), que haurà de culminar l'any 2014 amb la celebració d'un congrés internacional. El projecte està associat al grup de recerca (GRE) Llengua, cultura i identitat en l'era global (Identi.Cat) de la Universitat Oberta de Catalunya.Los seis artículos que componen este dossier de Digithum son versiones revisadas de ponencias presentadas en el seminario internacional "Resistencialismo y Normalización: Usos del Pasado y Discursos Culturales en la Cataluña Contemporánea". Este seminario, llevado a cabo en Barcelona los días 13 y 14 de diciembre de 2012, es el primero de una serie anual inscrita en el proyecto de investigación Funciones del pasado en la cultura catalana contemporánea: institucionalización, representaciones e identidad (FFI2011-24751), que deberá culminar en 2014 con la celebración de un congreso internacional. El proyecto está asociado al grupo de investigación (GRE) Lengua, cultura e identidad en la era global (Identi.cat) de la Universitat Oberta de Catalunya

Smart tourism city governance: exploring the impact on stakeholder networks

Purpose – Building on new trends in tourism and smart city governance, this study aims to examine the degree of interrelation between stakeholder networks involved in tourism governance and smart city development. A model describing the transition towards smart tourism city governance is proposed. Design/methodology/approach – The proposed model is tested through a multiple case study of seven European cities. This choice of sample makes the study highly representative. Data collection is based on an exhaustive search and analysis of available data on smart city initiatives, destination management organisations and tourism plans. Social network analysis using Gephi software is used to build stakeholder networks. Findings – Analysis of the stakeholder networks that shape tourism governance and smart initiatives in several cities reveals a disconnection between the two types of networks. The results show limited progress towards the expected synergies of true smart tourism city governance. Practical implications – Theoretically, the study contributes to the debate on new forms of governance for the complex evolution of urban tourism. In practice, the relationship between tourism governance and smart city initiatives needs to be redefined to achieve synergies that increase the inclusiveness and efficiency of urban tourism policies. Originality/value – This study examines the under-researched topic of the interrelation between tourism governance and smart city initiatives. By comparing the networks of actors resulting from these two processes, it assesses the extent to which this interrelation helps the emergence of new governance models (smart tourism city governance)

Cost-effectiveness of adjuvant therapy for hepatocellular carcinoma during the waiting list for liver transplantation.

Background: Survival after liver transplantation for early hepatocellular carcinoma (HCC) is worsened by the increasing dropout rate while waiting for a donor. Aims: To assess the cost effectiveness of adjuvant therapy while waiting for liver transplantation in HCC patients. Method: Using a Markov model, a hypothetical cohort of cirrhotic patients with early HCC was considered for: (1) adjuvant treatment—resection was limited to Child-Pugh's A patients with single tumours, and percutaneous treatment was considered for Child-Pugh's A and B patients with single tumours unsuitable for resection or with up to three nodules < 3 cm; and (2) standard management. Length of waiting time ranged from six to 24 months. Results: Surgical resection increased the transplantation rate (>10%) and provided gains in life expectancy of 4.8–6.1 months with an acceptable cost ($40 000/ year of life gained) for waiting lists ≥1 year whereas it was not cost effective ($74 000/life of year gained) for shorter waiting times or high dropout rate scenarios. Percutaneous treatment increased life expectancy by 5.2–6.7 months with a marginal cost of approximately $20 000/year of life gained in all cases, remaining cost effective for all waiting times. Conclusions: Adjuvant therapies for HCC while waiting for liver transplantation provide moderate gains in life expectancy and are cost effective for waiting lists of one year or more. For shorter waiting times, only percutaneous treatment confers a relevant survival advantage

La castellanización de la población de origen autóctono en la Cataluña contemporánea

Es presenta un estat de la qüestió de la recerca sobre la castellanització de la població d’origen autòcton a la Catalunya del segle xx. Aquest procés castellanitzador ha tingut lloc principalment en les classes altes i mitjanes altes. A partir de dades qualitatives (entrevistes i fragments autobiogràfics), s’exemplifiquen tant l’abast del fenomen com les dificultats per abordar-lo. Finalment se suggereixen algunes línies de recerca que caldria encetar per tal d’aprofundir en la comprensió sobre aquest tema. A state of the art concerning research into the process of endogenous Castilianization in Catalonia in the twentieth century is discussed. This process of Castilianization has mainly taken place among the middle and upper-middle-class sectors. Using qualitative data (interviews and autobiographical materials), examples are provided of the scope of the phenomenon and the difficulties in addressing it. Finally, several research lines for deepening our understanding on this subject are proposed.Se presenta un estado de la cuestión de la investigación sobre la castellanización de la población de origen autóctono en la Cataluña del siglo xx. Este proceso castellanizadora ha tenido lugar principalmente en las clases altas y medias altas. A partir de datos cualitativos (entrevistas y fragmentos autobiográficos), se ejemplifican tanto el alcance del fenómeno como las dificultades para abordarlo. Finalmente se sugieren algunas líneas de investigación que se tendrían que iniciar para profundizar en la comprensión sobre este tema

Lack of Benefit of Extending Temozolomide Treatment in Patients with High Vascular Glioblastoma with Methylated MGMT

[EN] Despite the complete treatment with surgery, chemotherapy and radiotherapy, patients with glioblastoma have a devasting prognosis. Although the role of extending temozolomide treatment has been explored, the results are inconclusive. Recent evidence suggested that tumor vascularity may be a modulating factor in combination with methylation of O6-methylguanine-DNA methyltransferase (MGMT) promotor gene on the effect of temozolomide-based therapies, opening new possibilities for personalized treatments. Before proposing a prospective interventional clinical study, it is necessary to confirm the beneficial effect of the combined effect of MGMT methylation and moderate tumor vascularity, as well as the lack of benefit of temozolomide in patients with a highly vascular tumor.In this study, we evaluated the benefit on survival of the combination of methylation of O6-methylguanine-DNA methyltransferase (MGMT) promotor gene and moderate vascularity in glioblastoma using a retrospective dataset of 123 patients from a multicenter cohort. MRI processing and calculation of relative cerebral blood volume (rCBV), used to define moderate- and high-vascular groups, were performed with the automatic ONCOhabitats method. We assessed the previously proposed rCBV threshold (10.7) and the new calculated ones (9.1 and 9.8) to analyze the association with survival for different populations according to vascularity and MGMT methylation status. We found that patients included in the moderate-vascular group had longer survival when MGMT is methylated (significant median survival difference of 174 days, p = 0.0129*). However, we did not find significant differences depending on the MGMT methylation status for the high-vascular group (p = 0.9119). In addition, we investigated the combined correlation of MGMT methylation status and rCBV with the prognostic effect of the number of temozolomide cycles, and only significant results were found for the moderate-vascular group. In conclusion, there is a lack of benefit of extending temozolomide treatment for patients with high vascular glioblastomas, even presenting MGMT methylation. Preliminary results suggest that patients with moderate vascularity and methylated MGMT glioblastomas would benefit more from prolonged adjuvant chemotherapy.M.A-T was supported by DPI2016-80054-R (Programa Estatal de Promocion del Talento y su Empleabilidad en I+D+i). This work was partially supported by the ALBATROSS project (National Plan for Scientific and Technical Research and Innovation 2017-2020, No. PID2019-104978RB-I00). This study was partially funded by the Fundacio La Marato TV3 (665/C/2013) (http://www.ccma.cat/tv3/marato/projectes-financats/2012/231/ Accessed on 8th September 2021). (JMGG); H2020-SC1-2016-CNECT Project (No. 727560) (JMGG), and H2020-SC1-BHC-2018-2020 (No. 825750) (JMGG). EFG was supported by the European Unions Horizon 2020 research and innovation program under the Marie Sklodowska-Curie grant agreement No 844646 and South-Eastern Norway Regional Health Authority Grant 2021057.Álvarez-Torres, MDM.; Fuster García, E.; Balaña, C.; Puig, J.; Garcia-Gomez, JM. (2021). Lack of Benefit of Extending Temozolomide Treatment in Patients with High Vascular Glioblastoma with Methylated MGMT. Cancers. 13(21):1-14. https://doi.org/10.3390/cancers13215420S114132

Metastatic Tissue Proteomic Profiling Predicts 5-Year Outcomes in Patients with Colorectal Liver Metastases

Colorectal cancer (CRC) is one of the most common cancers in the developed countries, and nearly 70% of patients with CRC develop colorectal liver metastases (CRLMs). During the last decades, several scores have been proposed to predict recurrence after CRLM resection. However, these risk scoring systems do not accurately reflect the prognosis of these patients. Therefore, this investigation was designed to identify a proteomic profile in human hepatic tumor samples to classify patients with CRLM as 'mild' or 'severe' based on the 5-year survival. The study was performed on 85 CRLM tumor samples. Firstly, to evaluate any distinct tumor proteomic signatures between mild and severe CRLM patients, a training group of 57 CRLM tumor samples was characterized by surface-enhanced laser desorption/ionization time-of-flight mass spectrometry, and a classification and regression tree (CART) analysis was subsequently performed. Finally, 28 CRLM tumor samples were used to confirm and validate the results obtained. Based on all the protein peaks detected in the training group, the CART analysis was generated, and four peaks were considered to be the most relevant to construct a diagnostic algorithm. Indeed, the multivariate model yielded a sensitivity of 85.7% and a specificity of 86.1%, respectively. In addition, the receiver operating characteristic (ROC) curve showed an excellent diagnostic accuracy to discriminate mild from severe CRLM patients (area under the ROC: 0.903). Finally, the validation process yielded a sensitivity and specificity of 68.8% and 83.3%, respectively. We identified a proteomic profile potentially useful to determine the prognosis of CRLM patients based on the 5-year survival

An Unbalanced Trilingualism: Linguistic Ideologies at the University of Barcelona

Due to the heterogeneous onglll of university students and the diverse language use guidelines in their departments, as welI as the peculiar language contact that takes place in the territory of Catalonia, the University of Barcelona is one of the most linguisticalIy complex universities of the occidental world. Catalan, Spanish and English are seen as enriching elements although dissenting voices do arise concerning the use of each of these languages. For this reason, we carried out a qualitative study, asking thirty-two students of the University of Barcelona (UB), the firsr Caralan University, how they perceive and face the chalIenges of their sociolinguistic environment. Briefly, in this article we study-in the first place-how students view the fact that English is becoming a language of insrruction; and secondly, we analyse the main arguments that local students use to justify their linguistic ideology regarding Erasmus students