Desarrollo de un control anti surge usando redes neuronales en una planta virtual

L’objectiu principal d’aquest projecte consisteix en la regulació automàtica d’una vàlvula “anti surge” des d’un codi escrit en Pytohn que té la funció de controlar el correcte funcionament d’un compressor centrífug radial que es troba en un entorn de simulació virtual, concretmanet en UniSim. Aquest projecte dóna la continuació a un Treball de Fi de Màster de l’escola en el qual es va aconseguir establir connexió entre els programes de UniSim y Python, on es va aconseguir fer una sèrie de funcions, concretament: obrir el cas de simulació, llegir valors de la simulació en el codi provinents de UniSim i modificar valors de la simulació des de Pytohn. Per a aquest treball s’han estudiat els diferents tipus de fallades que es poden produir en un compressor, dels quals s’ha triat a tractar els fenòmens de “surge” i “stone wall” que, encara que siguin diferents estan molt relacionats entre ells. Per a la realització del treball en si mitjançant els valors llegits en Python del cas de simulació, aquests són tractats mitjançant un model matemàtic el qual determina en quina zona de treball es troba el compressor, si es troba en zona de treball no actúa, no obstant això, al trovar-se en zones de trball no desitjades, mitjançant el codi escrit en Python regula la vàlvula “anti surge” del cas de simulació per a tornar a portar el compressor a la zona de treball correcta. A més s’ha implementat una xarxa neuronal per a millorar l’eficiència del procés, ja que en implementar aquesta xarxa el sistema funciona de forma més ràpida i eficient. En la finalització d’aquest treball s’ha obtingut el sistema de regulación de la vàlvual “anti surge” de forma satisfactòria, així com la xarxa neuronal. També s’ha realitzat una guia d’usuari perquè en futurs treballs relactionats amb el tema sigui més fàcil i ràpid comprender el funcionament de la utilització del codi abans de posar-se a programar.El objetivo principal de este proyecto consiste en la regulación automática de una válvula “anti surge” desde un código escrito en Python que tiene la función de controlar el correcto funcionamiento de un compresor centrífugo radial que se encuentra en un entorno de simulación virtual, concretamente en UniSim. Este proyecto da continuación a un Trabajo de Fin de Máster de la escuela en el cual se consiguió establecer conexión entre los programas de UniSim y Python, donde se consiguió hacer una serie de funciones, concretamente: abrir el caso de simulación, leer valores de la simulación en el código provenientes de UniSim y modificar valores de la simulación desde Python. Para este trabajo se han estudiado los diferentes tipos de fallos que se pueden producir en un compresor, de los cuales se ha elegido a tratar los fenómenos de “surge” y “stone wall” que, aunque sean diferentes están muy relacionados entre ellos. Para la realización del trabajo en sí, mediante los valores leídos en Python del caso de simulación, estos son tratados mediante un modelo matemático el cual determina en que zona de trabajo se encuentra el compresor, si se encuentra en zona de trabajo no actúa, sin embargo, el encontrarse en zonas de trabajo no deseadas, mediante el código escrito en Python regula la válvula “anti surge” del caso de simulación para volver a llevar el compresor a la zona de trabajo correcta. Además, se ha implementado una red neuronal para mejorar la eficiencia del proceso, ya que al implementar esta red el sistema funciona de forma más rápida y eficiente. En la finalización de este trabajo se ha obtenido el sistema de regulación de la válvula “anti surge” de forma satisfactoria, así como de la red neuronal. También se ha realizado una guía de usuario para que en futuros trabajos relacionados con el tema sea más fácil y rápido comprender el funcionamiento de la utilización del código antes de ponerse a programar.The main aim of this project consists in the automatic regulation of a valve “anti surge” from a code written in Python that has the function to control the correct operation of a radial centrifugal compressor that finds in some surroundings of virtual simulation, specifically in UniSim. This project gives continuation to a Work of End of Master of the school in which it achieved establish connection between the programs of UniSim and Python, where achieved do a series of functions, specifically: open the case of simulation, read values of the simulation in the code from UniSim and modify values of the simulation from Python. For this work have studied the different types of failures that can produce in a compressor, of which has chosen to treat the phenomena of “surge” and “stone wall” that, although they are different are very related between them. For the realization of the work in yes by means of the values read in Python of the case of simulation, these are treated by means of a mathematical model which determines in that zone of work finds the compressor, if it finds in zone of work does not act, however, the find in zones of work no wished, by means of the code written in Python regulates the valve anti arises of the case of simulation to go back to carry the compressor to the zone of correct work. Besides, it has implemented a neural network to improve the efficiency of the process, since when implementing this network, the system works of form faster and efficient. In the ending of this work has obtained the system of regulation of the valve anti arises of satisfactory form, as well as of the neural network. Also, it has made a guide of user so that in future works related with the subject was easier and fast comprise the operation of the utilization of the code before putting to program.

Global assessment of marine plastic exposure risk for oceanic birds

Plastic pollution is distributed patchily around the world’s oceans. Likewise, marine organisms that are vulnerable to plastic ingestion or entanglement have uneven distributions. Understanding where wildlife encounters plastic is crucial for targeting research and mitigation. Oceanic seabirds, particularly petrels, frequently ingest plastic, are highly threatened, and cover vast distances during foraging and migration. However, the spatial overlap between petrels and plastics is poorly understood. Here we combine marine plastic density estimates with individual movement data for 7137 birds of 77 petrel species to estimate relative exposure risk. We identify high exposure risk areas in the Mediterranean and Black seas, and the northeast Pacific, northwest Pacific, South Atlantic and southwest Indian oceans. Plastic exposure risk varies greatly among species and populations, and between breeding and non-breeding seasons. Exposure risk is disproportionately high for Threatened species. Outside the Mediterranean and Black seas, exposure risk is highest in the high seas and Exclusive Economic Zones (EEZs) of the USA, Japan, and the UK. Birds generally had higher plastic exposure risk outside the EEZ of the country where they breed. We identify conservation and research priorities, and highlight that international collaboration is key to addressing the impacts of marine plastic on wide-ranging species

Global assessment of marine plastic exposure risk for oceanic birds

Plastic pollution is distributed patchily around the world’s oceans. Likewise, marine organisms that are vulnerable to plastic ingestion or entanglement have uneven distributions. Understanding where wildlife encounters plastic is crucial for targeting research and mitigation. Oceanic seabirds, particularly petrels, frequently ingest plastic, are highly threatened, and cover vast distances during foraging and migration. However, the spatial overlap between petrels and plastics is poorly understood. Here we combine marine plastic density estimates with individual movement data for 7137 birds of 77 petrel species to estimate relative exposure risk. We identify high exposure risk areas in the Mediterranean and Black seas, and the northeast Pacific, northwest Pacific, South Atlantic and southwest Indian oceans. Plastic exposure risk varies greatly among species and populations, and between breeding and non-breeding seasons. Exposure risk is disproportionately high for Threatened species. Outside the Mediterranean and Black seas, exposure risk is highest in the high seas and Exclusive Economic Zones (EEZs) of the USA, Japan, and the UK. Birds generally had higher plastic exposure risk outside the EEZ of the country where they breed. We identify conservation and research priorities, and highlight that international collaboration is key to addressing the impacts of marine plastic on wide-ranging species

Development and Validation of a Risk Score for Chronic Kidney Disease in HIV Infection Using Prospective Cohort Data from the D:A:D Study

Ristola M. on työryhmien DAD Study Grp ; Royal Free Hosp Clin Cohort ; INSIGHT Study Grp ; SMART Study Grp ; ESPRIT Study Grp jäsen.Background Chronic kidney disease (CKD) is a major health issue for HIV-positive individuals, associated with increased morbidity and mortality. Development and implementation of a risk score model for CKD would allow comparison of the risks and benefits of adding potentially nephrotoxic antiretrovirals to a treatment regimen and would identify those at greatest risk of CKD. The aims of this study were to develop a simple, externally validated, and widely applicable long-term risk score model for CKD in HIV-positive individuals that can guide decision making in clinical practice. Methods and Findings A total of 17,954 HIV-positive individuals from the Data Collection on Adverse Events of Anti-HIV Drugs (D:A:D) study with >= 3 estimated glomerular filtration rate (eGFR) values after 1 January 2004 were included. Baseline was defined as the first eGFR > 60 ml/min/1.73 m2 after 1 January 2004; individuals with exposure to tenofovir, atazanavir, atazanavir/ritonavir, lopinavir/ritonavir, other boosted protease inhibitors before baseline were excluded. CKD was defined as confirmed (>3 mo apart) eGFR In the D:A:D study, 641 individuals developed CKD during 103,185 person-years of follow-up (PYFU; incidence 6.2/1,000 PYFU, 95% CI 5.7-6.7; median follow-up 6.1 y, range 0.3-9.1 y). Older age, intravenous drug use, hepatitis C coinfection, lower baseline eGFR, female gender, lower CD4 count nadir, hypertension, diabetes, and cardiovascular disease (CVD) predicted CKD. The adjusted incidence rate ratios of these nine categorical variables were scaled and summed to create the risk score. The median risk score at baseline was -2 (interquartile range -4 to 2). There was a 1: 393 chance of developing CKD in the next 5 y in the low risk group (risk score = 5, 505 events), respectively. Number needed to harm (NNTH) at 5 y when starting unboosted atazanavir or lopinavir/ritonavir among those with a low risk score was 1,702 (95% CI 1,166-3,367); NNTH was 202 (95% CI 159-278) and 21 (95% CI 19-23), respectively, for those with a medium and high risk score. NNTH was 739 (95% CI 506-1462), 88 (95% CI 69-121), and 9 (95% CI 8-10) for those with a low, medium, and high risk score, respectively, starting tenofovir, atazanavir/ritonavir, or another boosted protease inhibitor. The Royal Free Hospital Clinic Cohort included 2,548 individuals, of whom 94 individuals developed CKD (3.7%) during 18,376 PYFU (median follow-up 7.4 y, range 0.3-12.7 y). Of 2,013 individuals included from the SMART/ESPRIT control arms, 32 individuals developed CKD (1.6%) during 8,452 PYFU (median follow-up 4.1 y, range 0.6-8.1 y). External validation showed that the risk score predicted well in these cohorts. Limitations of this study included limited data on race and no information on proteinuria. Conclusions Both traditional and HIV-related risk factors were predictive of CKD. These factors were used to develop a risk score for CKD in HIV infection, externally validated, that has direct clinical relevance for patients and clinicians to weigh the benefits of certain antiretrovirals against the risk of CKD and to identify those at greatest risk of CKD.Peer reviewe

La libertad condicional en Cataluña

La investigación analiza cuáles son las claves actuales del uso de la libertad condicional (LC) en Cataluña. Para hacerlo, primero explica cuáles son las realidades de las políticas criminales y de ejecución penal practicadas en Cataluña y España y las compara con otras realidades europeas. Los resultados de esta primera parte fundamentan la conveniencia de aumentar de manera significativa su aplicación y cómo este aumento repercutiría positivamente en la mejora de las tasas de reincidencia, en el desistimiento del delito y en la reinserción social de las personas encarceladas. En la segunda parte del estudio se analiza el perfil de las personas que llegan a LC, pero también de las que no llegan, a pesar de cumplir algunas de las condiciones objetivas para hacerlo. Del estudio de estos perfiles se analizan las similitudes y diferencias en las características de los penados y se hacen propuestas de mejora en la clasificación de grado penitenciario y la posibilidad de progresión sin que aumente el riesgo teórico de reincidencia ni el de recursos a asignar, aunque sí hacer una redistribución de los actualmente existentes. La tercera parte del estudio analiza los obstáculos que tiene la Administración para poder hacer propuestas de mejora para aumentar la aplicación de la LC. Entre las dificultades analizadas se comentan: el modelo de aplicación español sobre la LC, la satisfacción de la responsabilidad civil, los extranjeros que se encuentran en situación administrativa irregular en España, los retrasos en la concesión de los permisos ordinarios y las progresiones de grado y el seguimiento y control de la LC. El estudio ha utilizado metodologías cuantitativas y cualitativas simultáneamente. La información obtenida se triangula y se señalan aquellos puntos donde el consenso es más global y aquellos puntos más controvertidos donde los resultados no permiten extraer conclusiones fehacientes. En la parte cuantitativa se han analizado 3.340 casos que se encontraban en 2012 en LC, 3 º grado y 2 º grado utilizando diferentes técnicas estadísticas. En la parte cualitativa, se han hecho análisis de casos, entrevistas en profundidad, grupos focales, técnica Delphi y recopilación bibliográfica y de legislación comparada. La investigación termina proponiendo 23 propuestas de mejora agrupadas en 6 bloques de intervención.La recerca analitza quines són les claus actuals de l’ús dela LCa Catalunya. Per fer-ho, primer de tot explica quina és la realitat de les polítiques criminals i d’execució penal practicades a Catalunya i a Espanya i les compara amb altres realitats europees. Els resultats d’aquesta primera part fonamenten la conveniència de fer augmentar de manera significativa la seva aplicació i com aquest augment repercutiria positivament en la millora de les taxes de reincidència, en el desistiment del delicte i en la reinserció social de les persones encarcerades. En la segona part de l’estudi s’analitza el perfil de les persones que arriben a la LC però també de les que no hi arriben, tot i complir algunes de les condicions objectives per fer-ho. De l’estudi d’aquests perfils s’analitzen les similituds i diferències en les característiques dels penats i es fan propostes de millora en la classificació de grau penitenciari i la possibilitat de progressió sense que augmenti el risc teòric de reincidència ni el de recursos a assignar, tot i que sí resulti necessari pensar i fer-ne una redistribució dels actualment existents. La tercera part de l’estudi es dedica a analitzar els obstacles que té l’Administració per poder fer propostes de millora per augmentar la seva implementació. Entre les dificultats analitzades es comenten: el model d’aplicació espanyol sobre la LC, la satisfacció de la responsabilitat civil, els estrangers que es troben en situació administrativa irregular a Espanya, els retards en la concessió dels permisos ordinaris i les progressions de grau i el seguiment i control de la LC. L’estudi ha fet servir metodologies quantitatives i qualitatives simultàniament. La informació obtinguda es triangula i s’assenyalen aquells punts on el consens és més global i aquells punts més controvertits on els resultats no permeten extreure’n conclusions fefaents. En la part quantitativa s’han analitzat utilitzant diferents tècniques estadístiques 3.340 casos que es trobaven l’any 2012 en LC, 3r grau i 2n grau. En la part qualitativa, s’ha fet anàlisi de casos, entrevistes en profunditat, grups focals, tècnica Delphi i recull bibliogràfic i de legislació comparada. La recerca acaba proposant 23 propostes de millora agrupades en 6 blocs d’intervenció.In 2012, the Catalan Prison Service and the Centre for Legal Studies and Specialized Training (CEJFE) identified the need of studying in depth the application of conditional release (CR) in Catalonia. The aim is to find out how CR is being currently managed and to describe the best way of extending its application to all the prisoners who meet the objective and subjective conditions provided for the Spanish legal framework. The aim of extending the application of conditional release in Catalonia is based on two motives: on one hand –taking into account international recommendations and the results of empirical research– to encourage the possibilities for rehabilitation provided by the prison sentence, promoting the prisoner’s reintegration into society through a period of supervision in the community. And on the other hand, to reduce the high cost of imprisonment if it is not necessary, even more in times of economical crisis. In this research, we will explain the arguments that are set out for the promotion of conditional release, grouped in 3 parts: 1) arguments related to penal and penitentiary policy, 2) economic arguments, and 3) arguments related to criminological efficacy. The methodology of the study is based on triangulating the information to compare what was expected (theoretical base, laws, previous studies), what has been observed (quantitative and qualitative results of the research) and what has been explained (experts’ arguments, opinions of professionals working in the field). Therefore, the methodology combines quantitative and qualitative techniques and analyses which are adjusted as far as possible to the aims pursued at each moment. All the research long, we give results and conclusions concerning the prisoners’ profile and their classification, the delays in the concession of inmate’s privileges (permissions for living the prison, open regime, etc.), and the Prison Service difficulties or troubles (such prison transfers of inmates, excess of bureaucracy, bad management of the Individualised Treatment Programme (ITP), difficulties in the satisfaction of the civil liability, lack of treatment programmes in open custody, etc.) Finally, the research specifies 23 proposals for extending the application of CR in Catalonia, set out in 6 areas focused on the following aims: A) To strengthen the rehabilitating character of conditional release; B) To implement a mixed model in the application of conditional release; C) To graduate the answers to no-compliances of the CR conditions; D) To improve the drafting and application of the ITP; E) To promote changes in some habits of work of the professionals implied; and F) To promote a change in the social perception of conditional release

La llibertat condicional a Catalunya

La recerca analitza quines són les claus actuals de l’ús dela LCa Catalunya. Per fer-ho, primer de tot explica quina és la realitat de les polítiques criminals i d’execució penal practicades a Catalunya i a Espanya i les compara amb altres realitats europees. Els resultats d’aquesta primera part fonamenten la conveniència de fer augmentar de manera significativa la seva aplicació i com aquest augment repercutiria positivament en la millora de les taxes de reincidència, en el desistiment del delicte i en la reinserció social de les persones encarcerades. En la segona part de l’estudi s’analitza el perfil de les persones que arriben a la LC però també de les que no hi arriben, tot i complir algunes de les condicions objectives per fer-ho. De l’estudi d’aquests perfils s’analitzen les similituds i diferències en les característiques dels penats i es fan propostes de millora en la classificació de grau penitenciari i la possibilitat de progressió sense que augmenti el risc teòric de reincidència ni el de recursos a assignar, tot i que sí resulti necessari pensar i fer-ne una redistribució dels actualment existents. La tercera part de l’estudi es dedica a analitzar els obstacles que té l’Administració per poder fer propostes de millora per augmentar la seva implementació. Entre les dificultats analitzades es comenten: el model d’aplicació espanyol sobre la LC, la satisfacció de la responsabilitat civil, els estrangers que es troben en situació administrativa irregular a Espanya, els retards en la concessió dels permisos ordinaris i les progressions de grau i el seguiment i control de la LC. L’estudi ha fet servir metodologies quantitatives i qualitatives simultàniament. La informació obtinguda es triangula i s’assenyalen aquells punts on el consens és més global i aquells punts més controvertits on els resultats no permeten extreure’n conclusions fefaents. En la part quantitativa s’han analitzat utilitzant diferents tècniques estadístiques 3.340 casos que es trobaven l’any 2012 en LC, 3r grau i 2n grau. En la part qualitativa, s’ha fet anàlisi de casos, entrevistes en profunditat, grups focals, tècnica Delphi i recull bibliogràfic i de legislació comparada. La recerca acaba proposant 23 propostes de millora agrupades en 6 blocs d’intervenció.La investigación analiza cuáles son las claves actuales del uso de la libertad condicional (LC) en Cataluña. Para hacerlo, primero explica cuáles son las realidades de las políticas criminales y de ejecución penal practicadas en Cataluña y España y las compara con otras realidades europeas. Los resultados de esta primera parte fundamentan la conveniencia de aumentar de manera significativa su aplicación y cómo este aumento repercutiría positivamente en la mejora de las tasas de reincidencia, en el desistimiento del delito y en la reinserción social de las personas encarceladas. En la segunda parte del estudio se analiza el perfil de las personas que llegan a LC, pero también de las que no llegan, a pesar de cumplir algunas de las condiciones objetivas para hacerlo. Del estudio de estos perfiles se analizan las similitudes y diferencias en las características de los penados y se hacen propuestas de mejora en la clasificación de grado penitenciario y la posibilidad de progresión sin que aumente el riesgo teórico de reincidencia ni el de recursos a asignar, aunque sí hacer una redistribución de los actualmente existentes. La tercera parte del estudio analiza los obstáculos que tiene la Administración para poder hacer propuestas de mejora para aumentar la aplicación de la LC. Entre las dificultades analizadas se comentan: el modelo de aplicación español sobre la LC, la satisfacción de la responsabilidad civil, los extranjeros que se encuentran en situación administrativa irregular en España, los retrasos en la concesión de los permisos ordinarios y las progresiones de grado y el seguimiento y control de la LC. El estudio ha utilizado metodologías cuantitativas y cualitativas simultáneamente. La información obtenida se triangula y se señalan aquellos puntos donde el consenso es más global y aquellos puntos más controvertidos donde los resultados no permiten extraer conclusiones fehacientes. En la parte cuantitativa se han analizado 3.340 casos que se encontraban en 2012 en LC, 3 º grado y 2 º grado utilizando diferentes técnicas estadísticas. En la parte cualitativa, se han hecho análisis de casos, entrevistas en profundidad, grupos focales, técnica Delphi y recopilación bibliográfica y de legislación comparada. La investigación termina proponiendo 23 propuestas de mejora agrupadas en 6 bloques de intervención.In 2012, the Catalan Prison Service and the Centre for Legal Studies and Specialized Training (CEJFE) identified the need of studying in depth the application of conditional release (CR) in Catalonia. The aim is to find out how CR is being currently managed and to describe the best way of extending its application to all the prisoners who meet the objective and subjective conditions provided for the Spanish legal framework. The aim of extending the application of conditional release in Catalonia is based on two motives: on one hand –taking into account international recommendations and the results of empirical research– to encourage the possibilities for rehabilitation provided by the prison sentence, promoting the prisoner’s reintegration into society through a period of supervision in the community. And on the other hand, to reduce the high cost of imprisonment if it is not necessary, even more in times of economical crisis. In this research, we will explain the arguments that are set out for the promotion of conditional release, grouped in 3 parts: 1) arguments related to penal and penitentiary policy, 2) economic arguments, and 3) arguments related to criminological efficacy. The methodology of the study is based on triangulating the information to compare what was expected (theoretical base, laws, previous studies), what has been observed (quantitative and qualitative results of the research) and what has been explained (experts’ arguments, opinions of professionals working in the field). Therefore, the methodology combines quantitative and qualitative techniques and analyses which are adjusted as far as possible to the aims pursued at each moment. All the research long, we give results and conclusions concerning the prisoners’ profile and their classification, the delays in the concession of inmate’s privileges (permissions for living the prison, open regime, etc.), and the Prison Service difficulties or troubles (such prison transfers of inmates, excess of bureaucracy, bad management of the Individualised Treatment Programme (ITP), difficulties in the satisfaction of the civil liability, lack of treatment programmes in open custody, etc.) Finally, the research specifies 23 proposals for extending the application of CR in Catalonia, set out in 6 areas focused on the following aims: A) To strengthen the rehabilitating character of conditional release; B) To implement a mixed model in the application of conditional release; C) To graduate the answers to no-compliances of the CR conditions; D) To improve the drafting and application of the ITP; E) To promote changes in some habits of work of the professionals implied; and F) To promote a change in the social perception of conditional release

Mutational profile of rare variants in inflammasome-related genes in Behçet disease: A Next Generation Sequencing approach

Behçet's disease (BD) is an immune-mediated systemic disorder with a well-established association with HLA class I and other genes. BD has clinical overlap with many autoinflammatory diseases (AIDs). The aim of this study was to investigate the role of rare variants in seven genes involved in AIDs: CECR1, MEFV, MVK, NLRP3, NOD2, PSTPIP1 and TNFRSF1A using a next generation sequencing (NGS) approach in 355 BD patients. To check global association of each gene, 4 tests: SKAT, CollapseBt, C(α) and weighted KBAC were used. Databases: 1000 Genomes Project Phase 3, Infevers, HGMD and ClinVar and algorithms: PolyPhen2 and SIFT were consulted to collect information of the 62 variants found. All the genes resulted associated using SKAT but only 3 (MVK, NOD2 and PSTPIP1) with C(α) and weighted KBAC. When all the genes are considered, 40 variants were associated to AIDs in clinical databases and 25 were predicted as pathogenic at least by one of the algorithms. Including only MVK, NOD2 and PSTPIP1, the associated to AIDs variants found in BD were 20 and the predicted as pathogenic, 12. The maxima contribution corresponds to NOD2. This study supports influence of rare variants in genes involved in AIDs in the pathogenesis of BD

Mutational profile of rare variants in inflammasome-related genes in Behçet disease: A Next Generation Sequencing approach

Behçet’s disease (BD) is an immune-mediated systemic disorder with a well-established association with HLA class I and other genes. BD has clinical overlap with many autoinflammatory diseases (AIDs). The aim of this study was to investigate the role of rare variants in seven genes involved in AIDs: CECR1, MEFV, MVK, NLRP3, NOD2, PSTPIP1 and TNFRSF1A using a next generation sequencing (NGS) approach in 355 BD patients. To check global association of each gene, 4 tests: SKAT, CollapseBt, C(α) and weighted KBAC were used. Databases: 1000 Genomes Project Phase 3, Infevers, HGMD and ClinVar and algorithms: PolyPhen2 and SIFT were consulted to collect information of the 62 variants found. All the genes resulted associated using SKAT but only 3 (MVK, NOD2 and PSTPIP1) with C(α) and weighted KBAC. When all the genes are considered, 40 variants were associated to AIDs in clinical databases and 25 were predicted as pathogenic at least by one of the algorithms. Including only MVK, NOD2 and PSTPIP1, the associated to AIDs variants found in BD were 20 and the predicted as pathogenic, 12. The maxima contribution corresponds to NOD2. This study supports influence of rare variants in genes involved in AIDs in the pathogenesis of BD.This work was supported by Fondo de Investigaciones Sanitarias, Instituto de Salud Carlos III (ISCIII, 13/01118 and PI16/01373), Fondos FEDER and Plan Andaluz de Investigación (CTS-0197). SBS is the recipient of a fellowship (ISCIII, 13/01118).Peer reviewe

Mutational profile of rare variants in inflammasome-related genes in Behçet disease: A Next Generation Sequencing approach

Behçet's disease (BD) is an immune-mediated systemic disorder with a well-established association with HLA class I and other genes. BD has clinical overlap with many autoinflammatory diseases (AIDs). The aim of this study was to investigate the role of rare variants in seven genes involved in AIDs: CECR1, MEFV, MVK, NLRP3, NOD2, PSTPIP1 and TNFRSF1A using a next generation sequencing (NGS) approach in 355 BD patients. To check global association of each gene, 4 tests: SKAT, CollapseBt, C(α) and weighted KBAC were used. Databases: 1000 Genomes Project Phase 3, Infevers, HGMD and ClinVar and algorithms: PolyPhen2 and SIFT were consulted to collect information of the 62 variants found. All the genes resulted associated using SKAT but only 3 (MVK, NOD2 and PSTPIP1) with C(α) and weighted KBAC. When all the genes are considered, 40 variants were associated to AIDs in clinical databases and 25 were predicted as pathogenic at least by one of the algorithms. Including only MVK, NOD2 and PSTPIP1, the associated to AIDs variants found in BD were 20 and the predicted as pathogenic, 12. The maxima contribution corresponds to NOD2. This study supports influence of rare variants in genes involved in AIDs in the pathogenesis of BD

Utopías para el siglo XXI = Utopies per al segle XXI

Dossier realitzat pels estudiants de l'assignatura "Utopia i Vanguàrdia" (any acadèmic 2018-2019) del Grau d'Estudis en Arquitectura de la Universitat de Girona.Professora responsable: Marisa García VergaraMarisa García Vergara, docent del curs Adriana Vázquez Balló i Fèlix Breton Coll, assistents de docència Disseny i maquetació: Júlia Capdevila, Aina Brugués i Lídia PérezEste dossier recoge algunas experiencias arquitectónicas y urbanísticas que se han planteado en las últimas décadas, que se entroncan en la nutrida vertiente de las propuestas utópicas en nuestro campo de estudios en el último cuarto de siglo hasta la actualidadThis dossier gathers some architectural and urbanistic experiences that have been raised in the last decades, which are linked in the nourished slope of the utopian proposals in our field of studies in the last quarter of the century until toda