A Semantic Web methodological framework to evaluate the support of integrity in thesaurus tools

12 p.With the Semantic Web, thesauri recover a relevant role supporting semantic searches and other added-value services. Thesaurus standards define what constructs a thesaurus can have and the integrity rules it must comply with. Thesaurus editors can be helped in their work if thesaurus tools offer them support for integrity, warning when integrity rules are violated and/or helping them to correct these mistakes. The most recent thesaurus standard is ISO 25964, which supersedes ISO 2788, evolving towards concept-based thesauri, better aligned with the Semantic Web approach than the term-based thesauri of ISO 2788. However, the W3C recommendation for KOS (Knowledge Organization System) representation in the semantic web context is SKOS, which is in fact prior to ISO 25964. This paper focuses on thesaurus integrity and the evolution from ISO 2788 to ISO 25964. Its effect on integrity issues is analyzed. A methodological proposal for evaluating integrity support in thesaurus tools, arising from the results of this work, is presented. Its target audience is professionals in charge of thesaurus edition. Besides being adapted to the most recent thesaurus standard, ISO 25964, it also includes the comparison of ISO standards with SKOS. The paper is completed with the presentation of the results of applying it to three thesaurus tools

Las IDE como evolución natural de los SIG

La IDEE es un proyecto cooperativo, de autoría colectiva, en el que colaboran organismos e instituciones de los tres ámbitos de la Administración (general, regional y local), del entorno universitario y del sector privado. Esta impresionante oferta de información geográfica, junto con las funcionalidades que aportan las tecnologías de Infraestructuras de Datos Espaciales (IDE), permite vislumbrar un abanico de líneas de trabajo, todavía inexploradas, de gran interés para todos los especialistas, técnicos e investigadores que manejan o precisan de cartografía en su quehacer cotidiano, que veremos en el presente artículo

Una nueva etapa: hacia la IDE 2.0

El desarrollo de las Infraestructuras de Datos Espaciales (IDE) en España ha cubierto una primera etapa basada en el despliegue de servicios básicos, aplicaciones de visualización y apertura de geoportales. Una IDE paradigmática de esta primera fase, que podemos llamar convencionalmente IDE 1.0, incluiría: un visualizador con servicios de mapas WMS de ortofotos, imágenes de satélite y cartografía, un catálogo de metadatos (CSW, SRW, otro perfil, o soluciones no estándar), un servicio de Nomenclátor (WFS-G, WFS-MNE o soluciones no estándar) para realizar búsquedas por nombre, un servicio de descarga de datos (basado en WFS), ,y probablemente aplicaciones complementarias no estándar al margen de las specificaciones OGC, como, por ejemplo, utilidades de transformación de coordenadas, o un cliente pesado para realizar vuelos virtuales. En suma, la mayoría de los geoportales disponibles están orientados fundamentalmente a la visualización de datos geográficos

Promoter Genotyping and mRNA Expression – Based Analysis of the PTGDR Gene in Allergy

[EN]Background: Prostaglandin D2 receptors are acquiring a relevant role as potential therapeutic targets in allergy. PTGDR has been described as a candidate gene in allergic disease, although functional studies on this gene are lacking. Objective: The objective of this case-control study was to investigate the potential role of PTGDR in allergy. Methods: The study population comprised 195 allergic patients and 112 healthy controls. The PTGDR promoter polymorphisms –1289G>A, –1122T>C, –881C>T, –834C>T, –613C>T, –549T>C, –441C>T, –197T>C, and-95G>T were amplified by polymerase chain reaction (PCR) and sequenced. PTGDR expression levels were analyzed using quantitative PCR and normalized to GAPDH and TBP mRNA levels. All procedures were performed following the Minimum Information for Publication of Quantitative Real-Time PCR Experiment guidelines. Results: [EN]PTGDR expression levels were significantly higher in allergic patients than in controls (PA and –1122T>C were found in allergic patients (P=.009). Conclusions: The results indicate that PTGDR overexpression is associated with allergy. The polymorphisms –1289G>A and –1122T>C partly explain the variation in expression we observed. PTGDR expression could have a potential role as a biomarker and pharmacogenetic factor in allergy

Application of fuzzy logic to assess the quality of BPMN models

© Springer International Publishing AG, part of Springer Nature 2018. Modeling is the first stage in a Business Process’s (BP) lifecycle. A high-quality BP model is vital to the successful implementation, execution, and monitoring stages. Different works have evaluated BP models from a quality perspective. These works either used formal verification or a set of quality metrics. This paper adopts quality metric and targets models represented in Business Process Modeling and Notation (BPMN). It proposes an approach based on fuzzy logic along with a tool system developed under eclipse framework. The preliminary experimental evaluation of the proposed system shows encouraging results

Predicting the onset and persistence of episodes of depression in primary health care. The predictD-Spain study: Methodology

Background: The effects of putative risk factors on the onset and/or persistence of depression remain unclear. We aim to develop comprehensive models to predict the onset and persistence of episodes of depression in primary care. Here we explain the general methodology of the predictD-Spain study and evaluate the reliability of the questionnaires used. Methods: This is a prospective cohort study. A systematic random sample of general practice attendees aged 18 to 75 has been recruited in seven Spanish provinces. Depression is being measured with the CIDI at baseline, and at 6, 12, 24 and 36 months. A set of individual, environmental, genetic, professional and organizational risk factors are to be assessed at each follow-up point. In a separate reliability study, a proportional random sample of 401 participants completed the test-retest (251 researcher-administered and 150 self-administered) between October 2005 and February 2006. We have also checked 118,398 items for data entry from a random sample of 480 patients stratified by province. Results: All items and questionnaires had good test-retest reliability for both methods of administration, except for the use of recreational drugs over the previous six months. Cronbach's alphas were good and their factorial analyses coherent for the three scales evaluated (social support from family and friends, dissatisfaction with paid work, and dissatisfaction with unpaid work). There were 191 (0.16%) data entry errors. Conclusion: The items and questionnaires were reliable and data quality control was excellent. When we eventually obtain our risk index for the onset and persistence of depression, we will be able to determine the individual risk of each patient evaluated in primary health car

Atopy Can Be an Interfering Factor in Genetic Association Studies of ß-Lactam Allergy

[EN] Genetic and environmental factors are involved in immediate hypersensitivity reactions to ß-lactam antibiotics. Several genes have been associated with immediate hypersensitivity reactions to ß-lactams, including those encoding cytokines and receptors involved in the synthesis of IgE (FCER1), as well as signal transduction proteins and products released by mast cells. Nevertheless, analysis of publications reporting on genetic association studies in patients allergic to ß-lactams reveals that most were performed in 3 main populations and, in most cases, by the same groups of investigators, who progressively increased the population sample in successive studies. Most of the publications reported a series of concerns, namely, the diagnosis was not always based on skin or challenge tests, tolerance to ß-lactams in controls was not proved, and atopy was not taken into account

X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation

Contiene 3 ficheros adicionales con información suplementaria.-- et al.[Background] Aproximately 5–10% of cases of mental retardation in males are due to copy number variations (CNV) on the X chromosome. Novel technologies, such as array comparative genomic hybridization (aCGH), may help to uncover cryptic rearrangements in X-linked mental retardation (XLMR) patients. We have constructed an X-chromosome tiling path array using bacterial artificial chromosomes (BACs) and validated it using samples with cytogenetically defined copy number changes. We have studied 54 patients with idiopathic mental retardation and 20 controls subjects.[Results] Known genomic aberrations were reliably detected on the array and eight novel submicroscopic imbalances, likely causative for the mental retardation (MR) phenotype, were detected. Putatively pathogenic rearrangements included three deletions and five duplications (ranging between 82 kb to one Mb), all but two affecting genes previously known to be responsible for XLMR. Additionally, we describe different CNV regions with significant different frequencies in XLMR and control subjects (44% vs. 20%).[Conclusion] This tiling path array of the human X chromosome has proven successful for the detection and characterization of known rearrangements and novel CNVs in XLMR patients.The authors thank the "Genoma España" and Genome Canada joint R+D+I projects in human health, plants and aquiculture; the former "Departament d'Universitats i Societat de la Informació" (DURSI) and the "Departament de Salut", from the Catalan Autonomous Government (2005SGR00008 - Generalitat de Catalunya); the Instituto de Salud Carlos III (PI041126, CIBER-ESP), the EU's Sixth Framework Programme [FP6-2005-LIFESCIHEALTH-7; ANEUPLOIDY No. 037627] and Fundación Areces (U-2006-FARECES-O).Peer reviewe

EVA: Laparoscopic instrument tracking based on endoscopic video analysis for psychomotor skills assessment

INTRODUCTION: The EVA (Endoscopic Video Analysis) tracking system a new tracking system for extracting motions of laparoscopic instruments based on non-obtrusive video tracking was developed. The feasibility of using EVA in laparoscopic settings has been tested in a box trainer setup. METHODS: EVA makes use of an algorithm that employs information of the laparoscopic instrument's shaft edges in the image, the instrument's insertion point, and the camera's optical centre to track the 3D position of the instrument tip. A validation study of EVA comprised a comparison of the measurements achieved with EVA and the TrEndo tracking system. To this end, 42 participants (16 novices, 22 residents, and 4 experts) were asked to perform a peg transfer task in a box trainer. Ten motion-based metrics were used to assess their performance. RESULTS: Construct validation of the EVA has been obtained for seven motion-based metrics. Concurrent validation revealed that there is a strong correlation between the results obtained by EVA and the TrEndo for metrics such as path length (p=0,97), average speed (p=0,94) or economy of volume (p=0,85), proving the viability of EVA. CONCLUSIONS: EVA has been successfully used in the training setup showing potential of endoscopic video analysis to assess laparoscopic psychomotor skills. The results encourage further implementation of video tracking in training setups and in image guided surgery

Impaired Mitophagy and Protein Acetylation Levels in Fibroblasts from Parkinson's Disease Patients

Parkinson's disease (PD) is a chronic and progressive neurodegenerative disorder. While most PD cases are idiopathic, the known genetic causes of PD are useful to understand common disease mechanisms. Recent data suggests that autophagy is regulated by protein acetylation mediated by histone acetyltransferase (HAT) and histone deacetylase (HDAC) activities. The changes in histone acetylation reported to be involved in PD pathogenesis have prompted this investigation of protein acetylation and HAT and HDAC activities in both idiopathic PD and G2019S leucine-rich repeat kinase 2 (LRRK2) cell cultures. Fibroblasts from PD patients (with or without the G2019S LRRK2 mutation) and control subjects were used to assess the different phenotypes between idiopathic and genetic PD. G2019S LRRK2 mutation displays increased mitophagy due to the activation of class III HDACs whereas idiopathic PD exhibits downregulation of clearance of defective mitochondria. This reduction of mitophagy is accompanied by more reactive oxygen species (ROS). In parallel, the acetylation protein levels of idiopathic and genetic individuals are different due to an upregulation in class I and II HDACs. Despite this upregulation, the total HDAC activity is decreased in idiopathic PD and the total HAT activity does not significantly vary. Mitophagy upregulation is beneficial for reducing the ROS-induced harm in genetic PD. The defective mitophagy in idiopathic PD is inherent to the decrease in class III HDACs. Thus, there is an imbalance between total HATs and HDACs activities in idiopathic PD, which increases cell death. The inhibition of HATs in idiopathic PD cells displays a cytoprotective effect