76 results on '"Falgueras P"'
Search Results
2. How to Find Correct Transection Plane in Laparoscopic Right Hepatectomy Extended to S1 for Bismuth IIIa Perihilar Cholangiocarcinoma
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Armentano, Serena, Aceves, José Miguel, Albiol, Maria Teresa, Falgueras, Laia, Caula, Celia, Castro, Ernesto, Casellas, Margarida, and Lopez-Ben, Santiago
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- 2024
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3. Reevaluation of ambiguous genetic variants in sudden unexplained deaths of a young cohort
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Martinez-Barrios, Estefanía, Sarquella-Brugada, Georgia, Perez-Serra, Alexandra, Fernandez-Falgueras, Anna, Cesar, Sergi, Alcalde, Mireia, Coll, Mónica, Puigmulé, Marta, Iglesias, Anna, Ferrer-Costa, Carles, del Olmo, Bernat, Picó, Ferran, Lopez, Laura, Fiol, Victoria, Cruzalegui, José, Hernandez, Clara, Arbelo, Elena, Díez-Escuté, Nuria, Cerralbo, Patricia, Grassi, Simone, Oliva, Antonio, Toro, Rocío, Brugada, Josep, Brugada, Ramon, and Campuzano, Oscar
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- 2023
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4. The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.
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Anna Fernandez-Falgueras, Monica Coll, Anna Iglesias, Coloma Tiron, Oscar Campuzano, and Ramon Brugada
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Medicine ,Science - Abstract
Inherited cardiovascular diseases are rare diseases that are difficult to diagnose by non-expert professionals. Genetic analyses play a key role in the diagnosis of these diseases, in which the identification of a pathogenic genetic variant is often a diagnostic criterion. Therefore, genetic variant classification and routine reinterpretation as data become available represent one of the main challenges associated with genetic analyses. Using the genetic variants identified in an inherited cardiovascular diseases unit during a 10-year period, the objectives of this study were: 1) to evaluate the impact of genetic variant reinterpretation, 2) to compare the reclassification rates between different cohorts of cardiac channelopathies and cardiomyopathies, and 3) to establish the most appropriate periodicity for genetic variant reinterpretation. All the evaluated cohorts (full cohort of inherited cardiovascular diseases, cardiomyopathies, cardiac channelopathies, hypertrophic cardiomyopathy, dilated cardiomyopathy, arrhythmogenic cardiomyopathy, Brugada syndrome, long QT syndrome and catecholaminergic polymorphic ventricular tachycardia) showed reclassification rates above 25%, showing even higher reclassification rates when there is definitive evidence of the association between the gene and the disease in the cardiac channelopathies. Evaluation of genetic variant reclassification rates based on the year of the initial classification showed that the most appropriate frequency for the reinterpretation would be 2 years, with the possibility of a more frequent reinterpretation if deemed convenient. To keep genetic variant classifications up to date, genetic counsellors play a critical role in the reinterpretation process, providing clinical evidence that genetic diagnostic laboratories often do not have at their disposal and communicating changes in classification and the potential implications of these reclassifications to patients and relatives.
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- 2024
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5. Clinical impact of rare variants associated with inherited channelopathies: a 5-year update
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Sarquella-Brugada, Georgia, Fernandez-Falgueras, Anna, Cesar, Sergi, Arbelo, Elena, Coll, Mónica, Perez-Serra, Alexandra, Puigmulé, Marta, Iglesias, Anna, Alcalde, Mireia, Vallverdú-Prats, Marta, Fiol, Victoria, Ferrer-Costa, Carles, del Olmo, Bernat, Picó, Ferran, Lopez, Laura, García-Alvarez, Ana, Jordà, Paloma, Tiron de Llano, Coloma, Toro, Rocío, Grassi, Simone, Oliva, Antonio, Brugada, Josep, Brugada, Ramon, and Campuzano, Oscar
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- 2022
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6. Valvulopathies and Genetics: Where are We?
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Mònica Coll, Anna Fernández-Falgueras, Anna Iglesias, and Ramon Brugada
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mitral valve prolapse ,bicuspid aortic valve ,non-syndromic forms ,syndromic forms ,hereditary ,connective disorders ,Diseases of the circulatory (Cardiovascular) system ,RC666-701 - Abstract
Valvulopathies are among the most common cardiovascular diseases, significantly increasing morbidity and mortality. While many valvular heart diseases are acquired later in life, an important genetic component has been described, particularly in mitral valve prolapse and bicuspid aortic valve. These conditions can arise secondary to genetic syndromes such as Marfan disease (associated with mitral valve prolapse) or Turner syndrome (linked to the bicuspid aortic valve) or may manifest in a non-syndromic form. When cardiac valve disease is the primary cause, it can appear in a familial clustering or sporadically, with a clear genetic component. The identification of new genes, regulatory elements, post-transcriptional modifications, and molecular pathways is crucial to identify at-risk familial carriers and for developing novel therapeutic strategies. In the present review we will discuss the numerous genetic contributors of heart valve diseases.
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- 2024
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7. LMNA-related muscular dystrophy: Identification of variants in alternative genes and personalized clinical translation
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Sergi Cesar, Monica Coll, Victoria Fiol, Anna Fernandez-Falgueras, Jose Cruzalegui, Anna Iglesias, Isaac Moll, Alexandra Perez-Serra, Estefanía Martínez-Barrios, Carles Ferrer-Costa, Bernat del Olmo, Marta Puigmulè, Mireia Alcalde, Laura Lopez, Ferran Pico, Rubén Berrueco, Josep Brugada, Irene Zschaeck, Daniel Natera-de Benito, Laura Carrera-García, Jessica Exposito-Escudero, Carlos Ortez, Andrés Nascimento, Ramon Brugada, Georgia Sarquella-Brugada, and Oscar Campuzano
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sudden cardiac death ,laminopathies ,muscular dystrophy ,genetics ,genetic diagnostic ,Genetics ,QH426-470 - Abstract
Background: Laminopathies are caused by rare alterations in LMNA, leading to a wide clinical spectrum. Though muscular dystrophy begins at early ages, disease progression is different in each patient. We investigated variability in laminopathy phenotypes by performing a targeted genetic analysis of patients diagnosed with LMNA-related muscular dystrophy to identify rare variants in alternative genes, thereby explaining phenotypic differences.Methods: We analyzed 105 genes associated with muscular diseases by targeted sequencing in 26 pediatric patients of different countries, diagnosed with any LMNA-related muscular dystrophy. Family members were also clinically assessed and genetically analyzed.Results: All patients carried a pathogenic rare variant in LMNA. Clinical diagnoses included Emery-Dreifuss muscular dystrophy (EDMD, 13 patients), LMNA-related congenital muscular dystrophy (L-CMD, 11 patients), and limb-girdle muscular dystrophy 1B (LGMD1B, 2 patients). In 9 patients, 10 additional rare genetic variants were identified in 8 genes other than LMNA. Genotype-phenotype correlation showed additional deleterious rare variants in five of the nine patients (3 L-CMD and 2 EDMD) with severe phenotypes.Conclusion: Analysis f known genes related to muscular diseases in close correlation with personalized clinical assessments may help identify additional rare variants of LMNA potentially associated with early onset or most severe disease progression.
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- 2023
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8. Possible Gender Differences in Classical Music, Flamenco and Fado
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Alicia Garcia-Falgueras
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Neurosciences. Biological psychiatry. Neuropsychiatry ,RC321-571 - Abstract
Music is an art form and cultural activity whose language, the sounds and silences, is organized in time with logic and sensitivity. Music as a whole is the result of an ancestral nonverbal and international mode of human expression and communication. The primitive and former mother-child bonding might be highly influenced and modulated by the music and singing with their babies. Musicality and music imply two different sides of the same coin, where the former is based on the human capacity to produce the latter. Some theories about evolution suggest music might have an adaptive advantage for humans in society. Historical examples of different styles in music point out that if any allusion or reminder about gender in music might happen most probably occurs in folk non always written pagan or secular music with lyrics or voice. This genre of music usually tells about traditional gender differences in jobs, habits, lifestyles, etc., and has a clear preference for male musicians, while on the contrary, classical music usually does not have a clear gender difference in meaning, and instruments are played by both. In this text, I explore and empirically describe, neuroanatomically or functionally, some examples of different genres of music and brain differences, related to music and dance. Three different genres of music (Classical music, Fado and Flamenco) are explored in an attempt to elucidate some reasons for possible gender differences.
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- 2023
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9. El despliegue conjunto de la dualización productiva normal: desde su inicio hasta el uso primero del producto. Bases antropológicas próximas de la actividad económica (IV)
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Ignacio Falgueras-Salinas and Ignacio Falgueras-Sorauren
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Producción ,Producto ,Utilidad ,Antropología de Leonardo Polo ,Business ,HF5001-6182 - Abstract
Estudiamos aquí el primer tramo del proceso productivo, común a toda producción humana, y que permite comprenderla mejor. Dicho proceso se inicia al ejecutar las facultades locomotrices el proyecto elegido; reviste la forma del método «ensayo- error-nuevo ensayo…», y alcanzará su primer objetivo al conseguir un producto suficientemente satisfactorio para la idea a plasmar. Sin embargo, este primer objetivo no cumple por completo el propósito inicial del proceso, que sólo se alcanza cuando el producto es usado para lo pretendido. Justificada la noción de uso, la consideración del primero de ellos sirve para establecer la noción básica de utilidad.
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- 2022
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10. Complicaciones postoperatorias tras cirugía inversa hepática. Proyecto RENACI
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M. Ramia, Jose, Villodre, Celia, Sánchez Pérez, Belinda, Falgueras Verdaguer, Laia, and Serradilla Martín, Mario
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- 2024
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11. Aggregated Distribution as an Explanation for the Paradox of Plankton and Collective Animal Behavior
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Javier Falgueras-Cano, Juan Antonio Falgueras-Cano, and Andrés Moya
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multilevel selection ,cellular automata ,evolutionary cellular automaton ,small-portion effect ,Biology (General) ,QH301-705.5 - Abstract
This work analyzes the evolutionary consequences of different aggregation levels of species distribution with an Evolutionary Cellular Automaton (ECA). We have found that in habitats with the same carrying capacity, aggregated distributions preserve smaller populations than do uniform distributions, i.e., they are less efficient. Nonetheless, we have also found that aggregated distributions, among other factors, can help the evolutionary stability of some biological interactions, such as predator–prey interactions, despite their granting less individual fitness. Besides, the competitive exclusion principle does not usually stand in populations with aggregated distribution. We have applied ECA to study the effects of aggregated distribution in two notorious cases: in the so-called paradox of the plankton and in gregarious animals. In doing so, we intend to ratify long-established ecological knowledge explaining these phenomena from a new perspective. In the first case, due to aggregate distribution, large aggregations of digital organisms mimicking very abundant planktonic species, leave large patches or oceanic areas free for other less competitive organisms, which mimic rare species, to prosper. In this case, we can see how effects, such as ecological drift and the small portion, act simultaneously. In the second case of aggregation, the aggregate distribution of gregarious animals could be explained under specialized predator–prey interactions and interdemic competition. Thus, digital organisms that imitate predators reduce the competitive capacity of their prey, destabilizing their competitiveness against other species. The specialized predator also goes extinct if the prey goes extinct by natural selection. Predators that have an aggregate distribution compensate the prey and thus avoid exclusion. This way there are more predator-free patches in which the prey can prosper. However, by granting greater colonization capacity to its prey, the predator loses competitiveness. Therefore, it is a multilevel selection event in which group adaptation grows to the detriment of the predator as an individual.
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- 2022
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12. The Spanish Composer Manuel de Falla and His Eyes: The Musical Brain
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Alicia García-Falgueras and Dick F Swaab
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Neurosciences. Biological psychiatry. Neuropsychiatry ,RC321-571 - Abstract
Manuel de Falla was a Spanish musician of the XIXth and XXth centuries who had international recognition likely due to his musical fusion talent. His knowledge about Spanish musical traditions gave to his early compositions a new and fresh intellectual interpretation for the typical Spanish folk music. However, in the middle of his musical career, he suffered a strange disease of his eyes named recurrent acute iridocyclitis. This eye flushing is caused by an inflammation of 2 structures of the anterior pole of the ocular globe, the iris, and the ciliary body. It is usually a symptom of another disease and it causes many psychological impairments and disabilities (severe eye pain in bright light, blurry vision, headache, stress for organization (orderliness), and depression in some cases). This soreness of his eyes had an effect over Falla’s compositions and marked an inflection point in his line of musical creations. Eyes in music have been so relevant in another composers and musicians throughout history.
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- 2021
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13. THERE ARE NO ADVANTAGES BETWEEN LAPAROSCOPIC AND OPEN LIVER RESECTIONS WITHIN AN ENHANCED RECOVERY PROGRAM (ERAS)
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Gustavo Adrian NARI, Ernesto Castro GUTIERREZ, Jose Luis LAYUN, Laia FALGUERAS, Daniela MARIOT, Georgina FERRET, Celia CAULA, and Javier GÓNGORA
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Hepatectomy ,Laparoscopy ,Enhanced recovery after surgery ,Surgery ,RD1-811 ,Diseases of the digestive system. Gastroenterology ,RC799-869 - Abstract
ABSTRACT Background: The use of a successful Enhanced Recovery After Surgery (ERAS) in colorectal surgery favored its application in other organs, and hepatic resections were not excluded from this tendency. Some authors suggest that the laparoscopic approach is a central element to obtain better results. Aim: To compare the laparoscopic vs. open hepatic resections within an ERAS to evaluate if there are any differences between them. Methods: In a descriptive study 80 hepatic resections that were divided into two groups, regarding to whether they were submitted to laparoscopy or open surgery. Demographic data, those referring to the hepatectomy and the ERAS was analyzed. Results: Forty-seven resections were carried out in open surgery and the rest laparoscopically; in the first group there was only one conversion to open surgery. Of the total, 17 resections were major hepatectomies and in 18 simultaneous resections. There were no differences between procedures regarding hospital stay and number of complications. There was a greater adherence to the ERAS (p=0.046) and a faster ambulation (p=0.001) in the open surgery. Conclusion: The procedure, whether open or laparoscopically done in hepatic resections, does not seem to show differences in an ERAS evaluation.
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- 2021
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14. A Study of the Coevolution of Digital Organisms with an Evolutionary Cellular Automaton
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Javier Falgueras-Cano, Juan-Antonio Falgueras-Cano, and Andrés Moya
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evolutionary altruism ,cross-species cooperation ,sex ratio ,phenotypic plasticity ,symbiosis ,Biology (General) ,QH301-705.5 - Abstract
This paper presents an Evolutionary Cellular Automaton (ECA) that simulates the evolutionary dynamics of biological interactions by manipulating strategies of dispersion and associations between digital organisms. The parameterization of the different types of interaction and distribution strategies using configuration files generates easily interpretable results. In that respect, ECA is an effective instrument for measuring the effects of relative adaptive advantages and a good resource for studying natural selection. Although ECA works effectively in obtaining the expected results from most well-known biological interactions, some unexpected effects were observed. For example, organisms uniformly distributed in fragmented habitats do not favor eusociality, and mutualism evolved from parasitism simply by varying phenotypic flexibility. Finally, we have verified that natural selection represents a cost for the emergence of sex by destabilizing the stable evolutionary strategy of the 1:1 sex ratio after generating randomly different distributions in each generation.
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- 2021
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15. Pediatric Malignant Arrhythmias Caused by Rare Homozygous Genetic Variants in TRDN: A Comprehensive Interpretation
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Georgia Sarquella-Brugada, Anna Fernandez-Falgueras, Sergi Cesar, Elena Arbelo, Paloma Jordà, Ana García-Álvarez, Jose Carlos Cruzalegui, Erika Fernanda Merchan, Victoria Fiol, Josep Brugada, Ramon Brugada, and Oscar Campuzano
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sudden cardiac death ,arrhythmias ,pediatric ,genetics ,triadin ,Pediatrics ,RJ1-570 - Abstract
Aim: To perform a comprehensive phenotype-genotype correlation of all rare variants in Triadin leading to malignant arrhythmias in pediatrics.Methods: Triadin knockout syndrome is a rare entity reported in pediatric population. This syndrome is caused by rare variants in the TRDN gene. Malignant ventricular arrhythmias and sudden cardiac death can be a primary manifestation of disease. Although pharmacological measures are effective, some patients require an implantable defibrillator due to high risk of arrhythmogenic episodes.Main Results: Fourteen rare genetic alterations in TRDN have been reported to date. All of these potentially pathogenic alterations are located in a specific area of TRDN, highlighting this hot spot as an arrhythmogenic gene region.Conclusions: Early recognition and comprehensive interpretation of alterations in Triadin are crucial to adopt preventive measures and avoid malignant arrhythmogenic episodes in pediatric population.
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- 2021
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16. Estado da arte dos marcos regulatórios brasileiros rumo à Ciência Aberta
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Laura Vilela Rodrigues Rezende and Ernest Abadal Falgueras
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Ciência Aberta ,Dados de Pesquisa ,Acesso Aberto ,Brasil ,Bibliography. Library science. Information resources - Abstract
Objetivo: Apresentar um panorama brasileiro acerca de marcos regulatórios que influenciam diretamente a prática da Ciência Aberta considerando a esfera governamental, institucional e das agências de fomento. Método: Estudo descritivo e exploratório com abordagem qualitativa. Resultado: As análises estão divididas em dois blocos: o primeiro com marcos regulatórios jurídicos brasileiros provenientes de instituições governamentais, que totalizam seis (6) normativas com tópicos referentes à transparência e abertura de dados, atos e do fazer científico; o segundo bloco traz marcos regulatórios provenientes das instituições científicas totalizando vinte e seis (26) políticas, uma (1) de agência de fomento e quatro(4) normativas de instituições provedoras de produtos e serviços em informação. Conclusões: Conclui-se que o Brasil tem trilhado seu caminho de maneira singular e de destaque uma vez que a abertura do fazer científico está em uma fase considerada transitória, consolidando o movimento de Acesso Aberto e inaugurando a Ciência Aberta, tendo o governo como agente essencial para esta implementação.
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- 2020
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17. Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes
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Oscar Campuzano, Georgia Sarquella-Brugada, Anna Fernandez-Falgueras, Mónica Coll, Anna Iglesias, Carles Ferrer-Costa, Sergi Cesar, Elena Arbelo, Ana García-Álvarez, Paloma Jordà, Rocío Toro, Coloma Tiron de Llano, Simone Grassi, Antonio Oliva, Josep Brugada, and Ramon Brugada
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Medicine ,Medicine (General) ,R5-920 - Abstract
ABSTRACT: Background: Accurate interpretation of rare genetic variants is a challenge for clinical translation. Updates in recommendations for rare variant classification require the reanalysis and reclassification. We aim to perform an exhaustive re-analysis of rare variants associated with inherited arrhythmogenic syndromes, which were classified ten years ago, to determine whether their classification aligns with current standards and research findings. Methods: In 2010, the rare variants identified through genetic analysis were classified following recommendations available at that time. Nowadays, the same variants have been reclassified following current American College of Medical Genetics and Genomics recommendations. Findings: Our cohort included 104 cases diagnosed with inherited arrhythmogenic syndromes and 17 post-mortem cases in which inherited arrhythmogenic syndromes was cause of death. 71.87% of variants change their classification. While 65.62% of variants were classified as likely pathogenic in 2010, after reanalysis, only 17.96% remain as likely pathogenic. In 2010, 18.75% of variants were classified as uncertain role but nowadays 60.15% of variants are classified of unknown significance. Interpretation: Reclassification occurred in more than 70% of rare variants associated with inherited arrhythmogenic syndromes. Our results support the periodical reclassification and personalized clinical translation of rare variants to improve diagnosis and adjust treatment. Funding: Obra Social ''La Caixa Foundation'' (ID 100010434, LCF/PR/GN16/50290001 and LCF/PR/GN19/50320002), Fondo Investigacion Sanitaria (FIS PI16/01203 and FIS, PI17/01690), Sociedad Española de Cardiología, and “Fundacio Privada Daniel Bravo Andreu”. Keywords: Sudden cardiac death, Arrhythmias, Pathogenicity, Genetics
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- 2020
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18. mORCA: ubiquitous access to life science web services
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Sergio Diaz-del-Pino, Oswaldo Trelles, and Juan Falgueras
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Bioinformatics ,Biomedicine ,Mobile-devices ,Software clients ,Web services ,Biotechnology ,TP248.13-248.65 ,Genetics ,QH426-470 - Abstract
Abstract Background Technical advances in mobile devices such as smartphones and tablets have produced an extraordinary increase in their use around the world and have become part of our daily lives. The possibility of carrying these devices in a pocket, particularly mobile phones, has enabled ubiquitous access to Internet resources. Furthermore, in the life sciences world there has been a vast proliferation of data types and services that finish as Web Services. This suggests the need for research into mobile clients to deal with life sciences applications for effective usage and exploitation. Results Analysing the current features in existing bioinformatics applications managing Web Services, we have devised, implemented, and deployed an easy-to-use web-based lightweight mobile client. This client is able to browse, select, compose parameters, invoke, and monitor the execution of Web Services stored in catalogues or central repositories. The client is also able to deal with huge amounts of data between external storage mounts. In addition, we also present a validation use case, which illustrates the usage of the application while executing, monitoring, and exploring the results of a registered workflow. The software its available in the Apple Store and Android Market and the source code is publicly available in Github. Conclusions Mobile devices are becoming increasingly important in the scientific world due to their strong potential impact on scientific applications. Bioinformatics should not fall behind this trend. We present an original software client that deals with the intrinsic limitations of such devices and propose different guidelines to provide location-independent access to computational resources in bioinformatics and biomedicine. Its modular design makes it easily expandable with the inclusion of new repositories, tools, types of visualization, etc.
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- 2018
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19. Proposal and testing goals-guided interaction for occasional users
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Carrillo, Antonio L. and Falgueras, Juan A.
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- 2020
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20. Molecular Characterization of Imported and Autochthonous Dengue in Northeastern Spain
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Jessica Navero-Castillejos, Rosa Benitez, Nuria Torner, José Muñoz, Daniel Camprubí-Ferrer, Aida Peiró-Mestres, Elena Sulleiro, Aroa Silgado, Verónica Gonzalo, Teresa Falgueras, Izaskun Alejo-Cancho, Montserrat Roldán, Virginia Plasencia, Rosa Albarracin, Josefa Perez, Alexander Navarro, Ana Calderón, Rosa Rubio, Mireia Navarro, Miguel Micó, Jaume Llaberia, María Navarro, Josep Barrachina, Anna Vilamala, Carmina Martí, María Ángeles Pulido, María Paz Sanchez-Seco, Ana Vazquez, Ana Martínez, Mireia Jané, and Miguel Julián Martínez
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dengue ,molecular epidemiology ,autochthonous transmission ,surveillance ,Microbiology ,QR1-502 - Abstract
Dengue is the most significant arbovirus worldwide and a public health threat to non-endemic areas in which Aedes vectors are present. Autochthonous dengue transmission has been reported in several European countries in the last decade. Infected travelers from endemic regions arriving to areas colonized by Aedes albopictus in Europe need to be monitored in surveillance and control programs. We aimed to perform molecular characterization of RT-PCR-positive dengue cases detected in Catalonia, northeastern Spain, from 2013 to 2018. The basic demographic information and the geographical regions of importation were also analyzed. One-hundred four dengue cases were studied (103 imported infections and the first autochthonous case in our region). The dengue virus strains detected were serotyped and genotyped using molecular methods, and phylogenetic analyses were conducted. All four dengue serotypes were detected in travelers, including up to 10 different genotypes, reflecting the global circulation of dengue in endemic areas. The primary travel-related case of the 2018 autochthonous transmission was not identified, but the molecular analysis revealed dengue serotype 1, genotype I of Asian origin. Our results highlight the diversity of imported dengue virus strains and the role of molecular epidemiology in supporting arbovirus surveillance programs.
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- 2021
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21. Pure Laparoscopic Anatomic Resection of the Segment 8 Dorsal Area Using the Dorsal Approach of the Right Hepatic Vein
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López-Ben, Santiago, Albiol, Maria Teresa, Falgueras, Laia, Caula, Celia, Collado-Roura, Francesc, Castro, Ernest, Casellas, Margarida, Garcia-Adamez, Jorge, and Codina-Cazador, Antoni
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- 2021
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22. Personalized Interpretation and Clinical Translation of Genetic Variants Associated With Cardiomyopathies
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Oscar Campuzano, Anna Fernandez-Falgueras, Georgia Sarquella-Brugada, Sergi Cesar, Elena Arbelo, Ana García-Álvarez, Paloma Jordà, Monica Coll, Victoria Fiol, Anna Iglesias, Alexandra Perez-Serra, Jesus Mates, Bernat del Olmo, Carles Ferrer, Mireia Alcalde, Marta Puigmulé, Irene Mademont-Soler, Ferran Pico, Laura Lopez, Coloma Tiron, Josep Brugada, and Ramon Brugada
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sudden cardiac death ,arrhythmias ,cardiomyopathies ,genetics ,genetic counseling ,Genetics ,QH426-470 - Abstract
Cardiomyopathies are a heterogeneous group of inherited cardiac diseases characterized by progressive myocardium abnormalities associated with mechanical and/or electrical dysfunction. Massive genetic sequencing technologies allow a comprehensive genetic analysis to unravel the cause of disease. However, most identified genetic variants remain of unknown clinical significance due to incomplete penetrance and variable expressivity. Therefore, genetic interpretation of variants and translation into clinical practice remain a current challenge. We performed retrospective comprehensive clinical assessment and genetic analysis in six families, four diagnosed with arrhythmogenic cardiomyopathy, and two diagnosed with hypertrophic cardiomyopathy (HCM). Genetic testing identified three rare variants (two non-sense and one small indel inducing a frameshift), each present in two families. Although each variant is currently classified as pathogenic and the cause of the diagnosed cardiomyopathy, the onset and/or clinical course differed in each patient. New genetic technology allows comprehensive yet cost-effective genetic analysis, although genetic interpretation, and clinical translation of identified variants should be carefully done in each family in a personalized manner.
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- 2019
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23. Prosthetic Shoulder Joint Infection by Cutibacterium acnes: Does Rifampin Improve Prognosis? A Retrospective, Multicenter, Observational Study
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Helem H. Vilchez, Rosa Escudero-Sanchez, Marta Fernandez-Sampedro, Oscar Murillo, Álvaro Auñón, Dolors Rodríguez-Pardo, Alfredo Jover-Sáenz, Mª Dolores del Toro, Alicia Rico, Luis Falgueras, Julia Praena-Segovia, Laura Guío, José A. Iribarren, Jaime Lora-Tamayo, Natividad Benito, Laura Morata, Antonio Ramirez, Melchor Riera, Study Group on Osteoarticular Infections (GEIO), and the Spanish Network for Research in Infectious Pathology (REIPI)
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Cutibacterium acnes ,prosthetic joint infection ,surgical and medical treatment ,Therapeutics. Pharmacology ,RM1-950 - Abstract
This retrospective, multicenter observational study aimed to describe the outcomes of surgical and medical treatment of C. acnes-related prosthetic joint infection (PJI) and the potential benefit of rifampin-based therapies. Patients with C. acnes-related PJI who were diagnosed and treated between January 2003 and December 2016 were included. We analyzed 44 patients with C. acnes-related PJI (median age, 67.5 years (IQR, 57.3–75.8)); 75% were men. The majority (61.4%) had late chronic infection according to the Tsukayama classification. All patients received surgical treatment, and most antibiotic regimens (43.2%) included β-lactam. Thirty-four patients (87.17%) were cured; five showed relapse. The final outcome (cure vs. relapse) showed a nonsignificant trend toward higher failure frequency among patients with previous prosthesis (OR: 6.89; 95% CI: 0.80–58.90) or prior surgery and infection (OR: 10.67; 95% IC: 1.08–105.28) in the same joint. Patients treated with clindamycin alone had a higher recurrence rate (40.0% vs. 8.8%). Rifampin treatment did not decrease recurrence in patients treated with β-lactams. Prior prosthesis, surgery, or infection in the same joint might be related to recurrence, and rifampin-based combinations do not seem to improve prognosis. Debridement and implant retention appear a safe option for surgical treatment of early PJI.
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- 2021
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24. Implant Removal in the Management of Prosthetic Joint Infection by Staphylococcus aureus: Outcome and Predictors of Failure in a Large Retrospective Multicenter Study
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Joan Gómez-Junyent, Jaime Lora-Tamayo, Josu Baraia-Etxaburu, Mar Sánchez-Somolinos, Jose Antonio Iribarren, Dolors Rodriguez-Pardo, Julia Praena-Segovia, Luisa Sorlí, Alberto Bahamonde, Melchor Riera, Alicia Rico, Mª Dolores del Toro, Laura Morata, Javier Cobo, Luis Falgueras, Natividad Benito, Elena Muñez, Alfredo Jover-Sáenz, Carles Pigrau, Javier Ariza, and Oscar Murillo
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Staphylococcus aureus ,prosthetic joint infection ,implant removal ,outcome ,rifampin ,Therapeutics. Pharmacology ,RM1-950 - Abstract
Objectives: To compare the characteristics and outcomes of cases with acute prosthetic joint infection (PJI; early post-surgical or hematogenous) by Staphylococcus aureus managed with implant removal (IRm) or debridement and retention (DAIR). To analyze the outcomes of all cases managed with IRm (initially or after DAIR failure). Methods: Retrospective, multicenter, cohort study of PJI by S. aureus (2003–2010). Overall failure included mortality within 60 days since surgery and local failure due to staphylococcal persistence/relapse. Results: 499 cases, 338 initially managed with DAIR, 161 with IRm. Mortality was higher in acute PJI managed initially with IRm compared to DAIR, but not associated with the surgical procedure, after propensity score matching. Underlying conditions, hemiarthroplasty, and methicillin-resistant S. aureus were risk factors for mortality. Finally, 249 cases underwent IRm (88 after DAIR failure); overall failure was 15.6%. Local failure (9.3%) was slightly higher in cases with several comorbidities, but independent of previous DAIR, type of IRm, and rifampin treatment. Conclusions: In a large multicenter study of S. aureus PJI managed with IRm, failure was low, but mortality significant, especially in cases with acute PJI and underlying conditions, but not associated with the IRm itself. Rifampin efficacy was limited in this setting.
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- 2021
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25. Green Trade and Trade Greener: The Wto Trade and Environmental Sustainability Structured Discussions [pre-publication]
- Author
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Álamo, Olga Falgueras del
- Abstract
The initiative on Trade and Environmental Sustainability Structured Discussions (TESSD) was launched in 2020, as part of an ambitious WTO package to gain worldwide relevance on the conversation on trade and environment. It has been portrayed as a nonnegotiating initiative, conceived to encourage discussion and transparency over a wide number of topics. In its three years of existence, it has gained popularity and its discussions became more technical and focused; it is expected to deliver a Ministerial Declaration in the forthcoming thirteenth WTO Ministerial Conference. This paper questions whether the WTO acquis is suitable to deal with what we consider the two main aspects of sustainable trade: trade facilitation of sustainable goods and services (a ‘trade greener’ standpoint), and trade that remedies the externalities caused by trade and production (the ‘green trade’ approach). We also argue that the current WTO initiatives on sustainable trade are not mature enough to support the green transition at an organization that needs to balance trade liberalization with environment protection.
- Published
- 2024
26. Burnout y trabajo en equipo en los profesionales de Atención Primaria
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Maite Vilà Falgueras, Carlota Cruzate Muñoz, Francesc Orfila Pernas, Joan Creixell Sureda, María Pilar González López, and Josep Davins Miralles
- Subjects
Burnout ,Trabajo en equipo ,Atención Primaria ,Agotamiento emocional ,Cuestionarios ,Medicine (General) ,R5-920 - Abstract
Objetivo: Estimar la prevalencia de burnout y percepción de trabajo en equipo en los equipos de Atención Primaria (EAP) de Barcelona ciudad. Diseño: Transversal multicéntrico. Emplazamiento: EAP del Institut Català de la Salut (ICS) en Barcelona. Participantes: Trabajadores fijos e interinos, de todas las categorías profesionales de 51 EAP (N = 2398). Respondieron 879 (36,7%). Mediciones: Se envió por correo electrónico el cuestionario «Maslach Burnout Inventory», con las dimensiones agotamiento emocional, despersonalización y realización personal. Se consideró burnout la afectación en grado alto de 2 o más dimensiones. La percepción del trabajo en equipo y la valoración de jefaturas se midió con un cuestionario diseñado ad hoc. Resultados: La prevalencia de burnout fue del 17,2%. El 46,2% presentaron una o más subescalas alteradas. Presentan alto grado de agotamiento emocional 38,2%, 23,8% despersonalización y 7,7% baja realización personal. Un 49,2% consideran que se fomenta bastante o mucho el trabajo en equipo. Globalmente, trabajadores sociales presentan mayor media de dimensiones afectadas en grado alto, seguidas de administrativos, odontólogos, médicos y enfermeras (p
- Published
- 2015
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27. Correction: Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.
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Olallo Sanchez, Oscar Campuzano, Anna Fernández-Falgueras, Georgia Sarquella-Brugada, Sergi Cesar, Irene Mademont, Jesus Mates, Alexandra Pérez-Serra, Monica Coll, Ferran Pico, Anna Iglesias, Coloma Tirón, Catarina Allegue, Esther Carro, María Ángeles Gallego, Carles Ferrer-Costa, Anna Hospital, Narcís Bardalet, Juan Carlos Borondo, Albert Vingut, Elena Arbelo, Josep Brugada, Josep Castellà, Jordi Medallo, and Ramon Brugada
- Subjects
Medicine ,Science - Abstract
[This corrects the article DOI: 10.1371/journal.pone.0167358.].
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- 2017
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28. Extreme liver surgery as treatment of liver tumors involving the hepatocaval confluence
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Codony, C., López-Ben, S., Albiol, M., Falgueras, L., Castro, E., Codina-Barreras, A., Casellas, M., Gil, J., Codina-Cazador, A., and Figueras, J.
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- 2016
- Full Text
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29. Resultados de las resecciones hepáticas como tratamiento radical de la hidatidosis hepática en 50 pacientes
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Gustavo A Nari, Oscar Palacios Rodríguez, Natalia Russo, Santiago López Ben, Maite Albiol, Laia Falgueras, Ernesto Castro, Antonio Codina-Barreras, and Joan Figueras
- Subjects
Diseases of the digestive system. Gastroenterology ,RC799-869 ,Medicine - Abstract
Introducción. La hidatidosis hepática es endémica en dife - rentes regiones del mundo. Se han propuesto diversos trata - mientos para abordarla. La mejor alternativa terapéutica sigue siendo la cirugía. Los procedimientos quirúrgicos están divididos en radicales y no radicales. El objetivo de nuestro trabajo es evaluar la morbi-mortalidad y el porcentaje de re - cidivas de las resecciones hepáticas como tratamiento radical de la hidatidosis hepática y contrastarlos con las series publi - cadas en la literatura. Material y métodos. Este estudio re - trospectivo fue efectuado en una serie española y argentina y se analizan los siguientes datos: sexo, edad, tipo de resección, gestos quirúrgicos asociados, presencia de hepatopatía, tiem - po operatorio, transfusión de hemoderivados, morbilidad, mortalidad, estancia hospitalaria, re-internación, recidiva y tiempo de seguimiento. Tuvimos en cuenta la clasificación de Dindo - Clavien para las complicaciones y la clasificación de la International Hepato-Pancreato-Biliary Association (IHPBA) de Brisbane para resecciones hepáticas. Se conside - ró mortalidad la ocurrida en los primeros 90 días post-ciru - gía. Para evaluar la recurrencia, solo se incluyeron pacientes seguidos durante más de 6 meses. Resultados. Las indicacio - nes de las resecciones hepáticas se realizaron en pacientes con quistes mayores de 5 cm, quistes múltiples, quistes de gran tamaño, comunicados con la vía biliar o con sospecha de dicha comunicación. Cinco pacientes requirieron transfusio - nes de hemoderivados (10%) con una mediana para esos 5 pacientes de 740 ml cada uno y para el total de la serie de 74 ml. El tiempo operatorio tuvo una mediana de 186 minutos (rango 45 a 1.050 minutos). La estancia hospitalaria tuvo una mediana de 7,7 días. El seguimiento superior a 6 me - ses se realizó en 38 pacientes. Conclusiones. Creemos que la hidatidosis hepática es una patología polifacética y requiere de más de una posibilidad terapéutica. Las hepatectomías, más allá de cumplir con la resección del parásito de manera completa, ofrecen la posibilidad de hacerlo de una manera controlada y segura en manos experimentadas, asegurando buenos resultados en el tratamiento de esta patología.
- Published
- 2014
30. Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.
- Author
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Olallo Sanchez, Oscar Campuzano, Anna Fernández-Falgueras, Georgia Sarquella-Brugada, Sergi Cesar, Irene Mademont, Jesus Mates, Alexandra Pérez-Serra, Monica Coll, Ferran Pico, Anna Iglesias, Coloma Tirón, Catarina Allegue, Esther Carro, María Ángeles Gallego, Carles Ferrer-Costa, Anna Hospital, Narcís Bardalet, Juan Carlos Borondo, Albert Vingut, Elena Arbelo, Josep Brugada, Josep Castellà, Jordi Medallo, and Ramon Brugada
- Subjects
Medicine ,Science - Abstract
Sudden unexplained death may be the first manifestation of an unknown inherited cardiac disease. Current genetic technologies may enable the unraveling of an etiology and the identification of relatives at risk. The aim of our study was to define the etiology of natural deaths, younger than 50 years of age, and to investigate whether genetic defects associated with cardiac diseases could provide a potential etiology for the unexplained cases.Our cohort included a total of 789 consecutive cases (77.19% males)
- Published
- 2016
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31. Incomplete Penetrance and Variable Expressivity: Hallmarks in Channelopathies Associated with Sudden Cardiac Death
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Monica Coll, Alexandra Pérez-Serra, Jesus Mates, Bernat del Olmo, Marta Puigmulé, Anna Fernandez-Falgueras, Anna Iglesias, Ferran Picó, Laura Lopez, Ramon Brugada, and Oscar Campuzano
- Subjects
sudden cardiac death ,channelopathies ,genetics ,incomplete penetrance ,variable expressivity ,Biology (General) ,QH301-705.5 - Abstract
Sudden cardiac death is defined as an unexpected decease of cardiac origin. In individuals under 35 years old, most of these deaths are due to familial arrhythmogenic syndromes of genetic origin, also known as channelopathies. These familial cardiac syndromes commonly follow an autosomal dominant pattern of inheritance. Diagnosis, however, can be difficult, mainly due to incomplete penetrance and variable expressivity, which are hallmarks in these syndromes. The clinical manifestation of these diseases can range from asymptomatic to syncope but sudden death can sometimes be the first symptom of disease. Early identification of at-risk individuals is crucial to prevent a lethal episode. In this review, we will focus on the genetic basis of channelopathies and the effect of genetic and non-genetic modifiers on their phenotypes.
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- 2017
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32. Pure laparoscopic liver resection reduces surgical site infections and hospital stay. Results of a case-matched control study in 50 patients
- Author
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López-Ben, Santiago, Palacios, Oscar, Codina-Barreras, Antonio, Albiol, M. Teresa, Falgueras, Laia, Castro, Ernesto, and Figueras, Joan
- Published
- 2014
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33. Sistemas de documentación de prensa ¿cuáles son y cómo evaluarlos?
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Ernest Abadal Falgueras, Javier Guallar, and Lluís Codina
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Bibliography. Library science. Information resources - Abstract
El interés y la abundacia de la información de prensa han puesto de relieve los problemas que existen para localizar y recuperar este tipo de contenidos en internet. Actualmente, la consulta de noticias retrospectivas se realiza a través de productos especializados que son poco conocidos no sólo por el gran público sino a veces también por los profesionales del sector. A partir de esta preocupación, hemos realizado diversos estudios que han tenido como objetivo general categorizar y evaluar los sistemas de documentación de prensa. En primer lugar, hemos categorizado los sistemas de documentación de prensa (hemerotecas históricas, hemerotecas del propio medio y bases de datos de prensa) y analizado sus características principales. En segundo lugar, hemos establecido un sistema de indicadores que sirven para la evaluación de estos sistemas documentales y, además, los hemos aplicado a casos concretos como son las hemerotecas digitales españolas (de los diarios de mayor difusión), las catalanas, etc. y en períodos de tiempo distintos, lo que ha permitido disponer de un análisis evolutivo. En este texto se presentan los resultados de ambas líneas de investigación.
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- 2014
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34. Una Perspectiva sobre la Situación Actual de la Virología
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Esteban Domingo Solans and Margarita Salas Falgueras
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General Works - Abstract
La Virología se ha desarrollado durante la última parte del siglo XX en paralelo con las nuevas técnicas de análisis y manipulación genética y con el auxilio de técnicas físicas e informáticas. En España se han formado núcleos activos tanto en genética viral como en virus patógenos de animales y plantas. Contrariamente a predicciones de hace tan solo tres décadas, las enfermedades víricas siguen siendo un importante problema en medicina, veterinaria y agricultura. Un gran número de enfermedades víricas emergentes constituyen un importante desafío para el siglo XXI.
- Published
- 2001
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35. DNA Microarrays for Identifying Fishes
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Kochzius, M., Nölte, M., Weber, H., Silkenbeumer, N., Hjörleifsdottir, S., Hreggvidsson, G. O., Marteinsson, V., Kappel, K., Planes, S., Tinti, F., Magoulas, A., Garcia Vazquez, E., Turan, C., Hervet, C., Campo Falgueras, D., Antoniou, A., Landi, M., and Blohm, D.
- Published
- 2008
- Full Text
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36. WE ARE OUR BRAINS Swaab, D. F.
- Author
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Alicia García Falgueras
- Subjects
Psychology ,BF1-990 - Published
- 2014
37. SOMOS NUESTRO CEREBRO Swaab, D. F.
- Author
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Alicia García Falgueras
- Subjects
Psychology ,BF1-990 - Published
- 2014
38. Oscillating annular liquid membranes
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Ramos, J. I. and Falgueras, J.
- Published
- 1992
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39. Response of annular liquid jets to mass loading
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Ramos, J. I. and Falgueras, Juan
- Published
- 1991
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40. La formación en Biblioteconornía y Documentación en España.
- Author
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Ernest Abadal Falgueras
- Subjects
Bibliography. Library science. Information resources - Abstract
Sin resumen
- Published
- 1993
41. SeqTrim: a high-throughput pipeline for pre-processing any type of sequence read
- Author
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Pérez-Trabado Guillermo, Cantón Francisco R, Fernández-Pozo Noé, Lara Antonio J, Falgueras Juan, and Claros M Gonzalo
- Subjects
Computer applications to medicine. Medical informatics ,R858-859.7 ,Biology (General) ,QH301-705.5 - Abstract
Abstract Background High-throughput automated sequencing has enabled an exponential growth rate of sequencing data. This requires increasing sequence quality and reliability in order to avoid database contamination with artefactual sequences. The arrival of pyrosequencing enhances this problem and necessitates customisable pre-processing algorithms. Results SeqTrim has been implemented both as a Web and as a standalone command line application. Already-published and newly-designed algorithms have been included to identify sequence inserts, to remove low quality, vector, adaptor, low complexity and contaminant sequences, and to detect chimeric reads. The availability of several input and output formats allows its inclusion in sequence processing workflows. Due to its specific algorithms, SeqTrim outperforms other pre-processors implemented as Web services or standalone applications. It performs equally well with sequences from EST libraries, SSH libraries, genomic DNA libraries and pyrosequencing reads and does not lead to over-trimming. Conclusions SeqTrim is an efficient pipeline designed for pre-processing of any type of sequence read, including next-generation sequencing. It is easily configurable and provides a friendly interface that allows users to know what happened with sequences at every pre-processing stage, and to verify pre-processing of an individual sequence if desired. The recommended pipeline reveals more information about each sequence than previously described pre-processors and can discard more sequencing or experimental artefacts.
- Published
- 2010
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42. Greening smart learning environments with Artificial Intelligence of Things
- Author
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Tabuenca, Bernardo, Uche-Soria, Manuel, Greller, Wolfgang, Hernández-Leo, Davinia, Balcells-Falgueras, Paula, Gloor, Peter, and Garbajosa, Juan
- Abstract
This article investigates the functionality and applications of an Artificial Intelligence of Things (AIoT) system specifically designed for learning purposes. It presents three compelling case studies that pilot the AIoT system in various educational contexts. The first case study focuses on primary education and the use of a smart dashboard to monitor the state of plants in environmental awareness activities. In the second case study, conducted in higher education, variables such as CO2levels, light intensity, and temperature are monitored to generate personalised recommendations for creating an optimal learning environment through tailored adjustments. The third case study explores the potential of plants to identify human presence and activity patterns in learning environments. By utilising the AIoT system’s capabilities, plant data is analysed to infer human presence and interactions. This innovative approach offers insights into understanding student behaviour and optimising learning environments based on real-time feedback from the plant ecosystem. Analysing these studies, the article deliberates on implications and future research opportunities in the realm of AI and IoT. It underscores the potential of AIoT systems in enhancing learning experiences, engaging students, and refining educational settings. The findings not only pave the way for future investigations, including model enhancements and privacy considerations but also emphasise AIoT’s potential in reshaping the educational landscape. This article serves as a valuable resource for researchers and practitioners keen on leveraging the synergy of AI and IoT in educational contexts.
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- 2024
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- View/download PDF
43. Whole anterior segment and retinal swept source OCT for comprehensive ocular screening
- Author
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Rodríguez-Aramendía, Ana, Díaz-Doutón, Fernando, Fernández-Trullàs, José, Falgueras, Pol, González, Laura, Pujol, Jaume, Grulkowski, Ireneusz, and Güell, José Luis
- Abstract
Whole eye visualization and morphometry are of high relevance in clinical practice. However, most standard ophthalmic OCT instruments are dedicated either to retinal or to anterior segment imaging. We demonstrate a swept source optical coherence tomography system (SS-OCT) that images both the whole anterior segment and the retina alternately using a single source and detector. A pilot population was imaged with the proof of concept prototype. We demonstrate the clinical potential of whole eye OCT screening for the description and early detection of relevant clinical features in the anterior segment and retina of several patients.
- Published
- 2021
44. Does the Artery-first Approach Improve the Rate of R0 Resection in Pancreatoduodenectomy? A Multicenter, Randomized, Controlled Trial.
- Author
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Sabater, Luis, Cugat, Esteban, Serrablo, Alejandro, Suarez-Artacho, Gonzalo, Diez-Valladares, Luis, Santoyo-Santoyo, Julio, Martín-Pérez, Elena, Ausania, Fabio, Lopez-Ben, Santiago, Jover-Navalon, Jose Maria, Garcés-Albir, Marina, Garcia-Domingo, Maria Isabel, Serradilla, Mario, Pérez-Aguirre, Elia, Sánchez-Pérez, Belinda, Di Martino, Marcello, Senra-del-Rio, Paula, Falgueras-Verdaguer, Laia, Carabias, Alberto, and Gómez-Mateo, Mari Carmen
- Abstract
Objective: To compare the rates of R0 resection in pancreatoduodenectomy (PD) for pancreatic and periampullary malignant tumors by means of standard (ST-PD) versus artery-first approach (AFA-PD). Background: Standardized histological examination of PD specimens has shown that most pancreatic resections thought to be R0 resections are R1. "Artery-first approach" is a surgical technique characterized by meticulous dissection of arterial planes and clearing of retropancreatic tissue in an attempt to achieve a higher rate of R0. To date, studies comparing AFAPD versus ST-PD are retrospective cohort or case-control studies. Methods: A multicenter, randomized, controlled trial was conducted in 10 University Hospitals (NCT02803814, ClinicalTrials.gov). Eligible patients were those who presented with pancreatic head adenocarcinoma and periampullary tumors (ampulloma, distal cholangiocarcinoma, duodenal adenocarcinoma). Assignment to each group (ST-PD or AFA-PD) was randomized by blocks and stratified by centers. The primary end-point was the rate of tumor-free resection margins (R0); secondary end-points were postoperative complications and mortality. Results: One hundred seventy-nine patients were assessed for eligibility and 176 randomized. After exclusions, the final analysis included 75 ST-PD and 78 AFA-PD. R0 resection rates were 77.3% (95% CI: 68.4-87.4) with ST-PD and 67.9% (95% CI: 58.3-79.1) with AFA-PD, P=0.194. There were no significant differences in postoperative complication rates, overall 73.3% versus 67.9%, and perioperative mortality 4% versus 6.4%. Conclusions: Despite theoretical oncological advantages associated with AFA-PD and evidence coming from low-level studies, this multicenter, randomized, controlled trial has found no difference neither in R0 resection rates nor in postoperative complications in patients undergoing ST-PD versus AFA-PD for pancreatic head adenocarcinoma and other periampullary tumors. [ABSTRACT FROM AUTHOR]
- Published
- 2019
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45. Hypertensive crisis following the administration of tedizolid: possible serotonin syndrome.
- Author
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de Castro Julve, Maria, Miralles Albors, Paula, Ortonobes Roig, Sara, Vives, Roser, Falgueras, Luis, and Gómez-Valent, Mònica
- Published
- 2020
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46. Estudio multicéntrico nacional sobre pancreatectomías totales
- Author
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Ramia, Jose M., Martin-Perez, Elena, Poves, Ignasi, Fabregat-Prous, Joan, Larrea y Olea, Javier, Sanchez-Bueno, Francisco, Botello-Martinez, Francisco, Briceño, Javier, Miyar-de León, Alberto, Serradilla, Mario, Moya-Herraiz, Angel, Fabregat Prous, Joan, Secanella, Lluis, Larrea y Olea, Javier, Sanchez Bueno, Francisco, Botello Martinez, Francisco, Briceño, Javier, Miyar-de León, Alberto, Serradilla, Mario, Serrablo, Alejandro, Ferrer Fabrega, Joana, Sanchez Cabús, S., Angel Gómez Bravo, Miguel, Padillo, Javier, Blanco, Laia, Balcells, J., Cugat, Esteban, García Domingo, Maribel, Muñoz Bellvis, Luis, Dolores Perez Diaz, Maria, Santoyo Santoyo, Julio, Sanchez, Belinda, Villegas, Trinidad, Pacho, Silvino, Díez Valladares, Luis, Rebollar, Jose, Ángel Suárez Muñoz, Miguel, Domínguez, Elías, Martín Perez, Elena, Falgueras, Laia, Poves, Ignasi, Artigas, Vicenç, Sabater, Luis, Garcia Gil, Agustin, Ignacio Miota de Llama, Jose, Manzanet, Gerardo, Carlos Pino, Jose, Carlos Rodríguez Sanjuán, Juan, Lluis, F., Ausania, Fabio, Alkorta Zuloaga, Maialen, Escartín, Jorge, Salas, Manel, Domingo, Carlos, Artigues Sánchez de Rojas, Enrique, Antonio Barreras Mateos, José, María Fernández Cebrián, José, Pérez Cabrera, Beatriz, Padilla Valverde, D., Sanjuanbenito, Alfonso, Iturburu Belmonte, Ignacio, Bejarano, Natalia, García Borobia, F., Toral Guinea, Pablo, Lopez Marcano, Aylhin, Asencio Arana, Francisco, Varo, Evaristo, Esteban, Rafael, Blas, Juan Laaa, Jover Navalón, José M., Fernández Martínez, Cristina, Daban Collado, Enrique, Calvo Duran, Antonio, Vicens, J.C., Romero, J., Badía, J.M., Sánchez, Raquel, de Miguel Ibáñez, Ricardo, Pardoc, Fernando, Francos von Hunefeld, Carlos, Pereira, Fernando, Garcia Molina, Francisco, Rodríguez Prieto, Ignacio, Alonso Poza, Alfredo, Gilsanz, Carlos, Miguel Martínez Albert, Jose, Angel Morcillo, Miguel, Martínez Cortijo, Sagrario, Martín Fernández, José, Baquedano, Jesús, Castell, José, Aguiló, Javier, and Carlos Bernal, Juan
- Published
- 2019
- Full Text
- View/download PDF
47. Role of copy number variants in sudden cardiac death and related diseases: genetic analysis and translation into clinical practice
- Author
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Mates, Jesus, Mademont-Soler, Irene, Olmo, Bernat, Ferrer-Costa, Carles, Coll, Monica, Pérez-Serra, Alexandra, Picó, Ferran, Allegue, Catarina, Fernandez-Falgueras, Anna, Álvarez, Patricia, Yotti, Raquel, Espinosa, Maria, Sarquella-Brugada, Georgia, Cesar, Sergi, Carro, Ester, Brugada, Josep, Arbelo, Elena, Garcia-Pavia, Pablo, Borregan, Mar, Tizzano, Eduardo, López-Granados, Amador, Mazuelos, Francisco, Díaz de Bustamante, Aranzazu, Darnaude, Maria, González-Hevia, José, Díaz-Flores, Felícitas, Trujillo, Francisco, Iglesias, Anna, Fernandez-Aviles, Francisco, Campuzano, Oscar, and Brugada, Ramon
- Abstract
Several studies have identified copy number variants (CNVs) as responsible for cardiac diseases associated with sudden cardiac death (SCD), but very few exhaustive analyses in large cohorts of patients have been performed, and they have been generally focused on a specific SCD-related disease. The aim of the present study was to screen for CNVs the most prevalent genes associated with SCD in a large cohort of patients who suffered sudden unexplained death or had an inherited cardiac disease (cardiomyopathy or channelopathy). A total of 1765 European patients were analyzed with a homemade algorithm for the assessment of CNVs using high-throughput sequencing data. Thirty-six CNVs were identified (2%), and most of them appeared to have a pathogenic role. The frequency of CNVs among cases of sudden unexplained death, patients with a cardiomyopathy or a channelopathy was 1.4% (8/587), 2.3% (20/874), and 2.6% (8/304), respectively. Detection rates were particularly high for arrhythmogenic cardiomyopathy (5.1%), long QT syndrome (4.7%), and dilated cardiomyopathy (4.4%). As such large genomic rearrangements underlie a non-neglectable portion of cases, we consider that their analysis should be performed as part of the routine genetic testing of sudden unexpected death cases and patients with SCD-related diseases.
- Published
- 2018
- Full Text
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48. A New View on Robbins's Definition of Economics: the Notions of Realand FormalScarcity
- Author
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Falgueras-Sorauren, Ignacio
- Abstract
This article analyses Robbins's famous definition of economics. It shows that this definition was introduced by the author to solve long-standing problems regarding the subject-matter of the science that were associated with some of the existing definitions. The article also draws attention to some confusion that surrounds the way Robbins understood the (new) subject-matter and which also slid into his definition. To escape the ambiguities caused by Robbins's confusion, we propose a more precise way of understanding the subject-matter of economics. The insight gained reveals that Robbins's definition really contains two sub-definitions: one that describes the subject-matter (real scarcity) and another that describes the method of the science (formal scarcity). This finding sheds light on some analyses and interpretations of this definition in the literature.
- Published
- 2017
- Full Text
- View/download PDF
49. Evolución de la cirugía laparoscópica en una unidad hepatobiliar de alto volumen: 150 hepatectomías laparoscópicas consecutivas
- Author
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López-Ben, Santiago, Ranea, Alejandro, Albiol, M Teresa, Falgueras, Laia, Castro, Ernesto, Casellas, Margarida, Codina-Barreras, Antoni, and Figueras, Joan
- Abstract
En comparación con otras áreas quirúrgicas, la resección hepática laparoscópica (RHL) no se ha aplicado de forma generalizada y en la actualidad menos del 20% de las hepatectomías se realiza por vía laparoscópica en todo el mundo. El objetivo de nuestro estudio fue evaluar la aplicabilidad y la proporción de RHL en nuestro departamento.
- Published
- 2017
- Full Text
- View/download PDF
50. SeqTrim — A Validation and Trimming Tool for All Purpose Sequence Reads.
- Author
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Kacprzyk, Janusz, Corchado, Emilio, Corchado, Juan M., Abraham, Ajith, Falgueras, Juan, Lara, Antonio J., Cantón, Francisco R., Pérez-Trabado, Guillermo, and Gonzalo Claros, M.
- Abstract
Bioinformatics tools are required to produce reliable, high quality data devoid of unwanted sequences in the preprocessing stage of current sequencing and EST projects. In this paper we describe SeqTrim, an algorithm designed to extract the insert sequence from any sequence read devoid of any foreign, contaminant or unwanted sequence, whatever the experimental process was. SeqTrim is easy to install and able to identify the sequence insert by removing low quality sequences, cloning vector, poly A or T tails, adaptors, and sequences that can be considered contaminants. It is easy to use and can be used as stand-alone application or as web page. The default parameters of the algorithm are best suited for most cases but a configuration file can be provided along with input sequences. SeqTrim admits several input and output formats (with and without quality values), which enables its inclusion in already or newly defined sequence processing workflows. SeqTrim is under continuous refinement due to collaboration between biologists and computer scientists which has succeed in correct dealing with most sequence cases and opens the possibility to include new capabilities to manage new kinds of bad sequences. [ABSTRACT FROM AUTHOR]
- Published
- 2008
- Full Text
- View/download PDF
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