Subsumption in Finitely Valued Fuzzy EL

Aus der Einleitung: Description Logics (DLs) are a family of knowledge representation formalisms that are successfully applied in many application domains. They provide the logical foundation for the Direct Semantics of the standard web ontology language OWL2. The light-weight DL EL, underlying the OWL2 EL profile, is of particular interest since all common reasoning problems are polynomial in this logic, and it is used in many prominent biomedical ontologies like SNOMEDCT and the Gene Ontology

On the implementation of a Fuzzy DL Solver over Infinite-Valued Product Logic with SMT Solvers

In this paper we explain the design and preliminary implementation of a solver for the positive satisfiability problem of concepts in a fuzzy description logic over the infinite-valued product logic. This very solver also answers 1-satisfiability in quasi-witnessed models. The solver works by first performing a direct reduction of the problem to a satisfiability problem of a quantifier free boolean formula with non-linear real arithmetic properties, and secondly solves the resulting formula with an SMT solver. We show that the satisfiability problem for such formulas is still a very challenging problem for even the most advanced SMT solvers, and so it represents an interesting problem for the community working on the theory and practice of SMT solvers.Research partially funded by the Spanish MICINN projects ARINF (TIN2009-14704-C03-01/03) and TASSAT (TIN2010-20967-C04-01/03), MINECO project EdeTRI (TIN2012-39348-C02-01), Agreement Techologies (CONSOLIDER CSD 2007- 0022), Catalan Government (2009SGR-1433/34) and ESF project POST - UP II No. CZ.1.07/2.3.00/30.0041 that is co-financed by the European Social Fund and the state budget of the Czech Republic.Peer Reviewe

Large-scale functional networks, cognition and brain structures supporting social cognition and theory of mind performance in prodromal to mild Alzheimer’s Disease

Impairment of social cognition (SC) skills such as recognition and attribution of intentions and affective states of others (Theory of Mind, ToM) has been evidenced in Alzheimer’s Disease (AD). This study investigated the neuropsychological, neuroanatomical and brain-functional underpinnings of SC processing to obtain an understanding of the social neurophenotype in early probable AD. Forty-six patients with mild cognitive impairment and mild probable AD underwent SC assessment including emotion recognition (Ekman-60-faces task) and cognitive and affective ToM (Reading-the-Mind-in-the-Eyes test and Story-based Empathy task). Linear models tested the association between SC scores and neuropsychological measures, grey matter maps and large-scale functional networks activity. The executive domain had the most predominant association with SC scores in the cognitive profile. Grey matter volume of the anterior cingulate, orbitofrontal, temporoparietal junction (TPJ), superior temporal, and cerebellar cortices were associated with ToM. Social cognition scores were associated with lower connectivity of the default-mode network with the prefrontal cortex. The right fronto-parietal network displayed higher inter-network connectivity in the right TPJ and insula while the salience network showed lower inter-network connectivity with the left TPJ and insula. Connectivity coupling alterations of executive-attentional networks may support default mode social-cognitive-associated decline through the recruitment of frontal executive mechanisms

The cognitive and behavioural profile of Amyotrophic Lateral Sclerosis: Application of the consensus criteria

Abstract. OBJECTIVE: The study aims to assess the spectrum of cognitive and behavioural disorders in patients affected by Amyotrophic Lateral Sclerosis (ALS) according to the recent consensus criteri

Handheld computers for self-administered sensitive data collection: A comparative study in Peru

<p>Abstract</p> <p>Background</p> <p>Low-cost handheld computers (PDA) potentially represent an efficient tool for collecting sensitive data in surveys. The goal of this study is to evaluate the quality of sexual behavior data collected with handheld computers in comparison with paper-based questionnaires.</p> <p>Methods</p> <p>A PDA-based program for data collection was developed using Open-Source tools. In two cross-sectional studies, we compared data concerning sexual behavior collected with paper forms to data collected with PDA-based forms in Ancon (Lima).</p> <p>Results</p> <p>The first study enrolled 200 participants (18–29 years). General agreement between data collected with paper format and handheld computers was 86%. Categorical variables agreement was between 70.5% and 98.5% (Kappa: 0.43–0.86) while numeric variables agreement was between 57.1% and 79.8% (Spearman: 0.76–0.95). Agreement and correlation were higher in those who had completed at least high school than those with less education. The second study enrolled 198 participants. Rates of responses to sensitive questions were similar between both kinds of questionnaires. However, the number of inconsistencies (p = 0.0001) and missing values (p = 0.001) were significantly higher in paper questionnaires.</p> <p>Conclusion</p> <p>This study showed the value of the use of handheld computers for collecting sensitive data, since a high level of agreement between paper and PDA responses was reached. In addition, a lower number of inconsistencies and missing values were found with the PDA-based system. This study has demonstrated that it is feasible to develop a low-cost application for handheld computers, and that PDAs are feasible alternatives for collecting field data in a developing country.</p

Identification of six new susceptibility loci for invasive epithelial ovarian cancer.

Genome-wide association studies (GWAS) have identified 12 epithelial ovarian cancer (EOC) susceptibility alleles. The pattern of association at these loci is consistent in BRCA1 and BRCA2 mutation carriers who are at high risk of EOC. After imputation to 1000 Genomes Project data, we assessed associations of 11 million genetic variants with EOC risk from 15,437 cases unselected for family history and 30,845 controls and from 15,252 BRCA1 mutation carriers and 8,211 BRCA2 mutation carriers (3,096 with ovarian cancer), and we combined the results in a meta-analysis. This new study design yielded increased statistical power, leading to the discovery of six new EOC susceptibility loci. Variants at 1p36 (nearest gene, WNT4), 4q26 (SYNPO2), 9q34.2 (ABO) and 17q11.2 (ATAD5) were associated with EOC risk, and at 1p34.3 (RSPO1) and 6p22.1 (GPX6) variants were specifically associated with the serous EOC subtype, all with P < 5 × 10(-8). Incorporating these variants into risk assessment tools will improve clinical risk predictions for BRCA1 and BRCA2 mutation carriers.COGS project is funded through a European Commission's Seventh Framework Programme grant (agreement number 223175 ] HEALTH ]F2 ]2009 ]223175). The CIMBA data management and data analysis were supported by Cancer Research.UK grants 12292/A11174 and C1287/A10118. The Ovarian Cancer Association Consortium is supported by a grant from the Ovarian Cancer Research Fund thanks to donations by the family and friends of Kathryn Sladek Smith (PPD/RPCI.07). The scientific development and funding for this project were in part supported by the US National Cancer Institute GAME ]ON Post ]GWAS Initiative (U19 ]CA148112). This study made use of data generated by the Wellcome Trust Case Control consortium. Funding for the project was provided by the Wellcome Trust under award 076113. The results published here are in part based upon data generated by The Cancer Genome Atlas Pilot Project established by the National Cancer Institute and National Human Genome Research Institute (dbGap accession number phs000178.v8.p7). The cBio portal is developed and maintained by the Computational Biology Center at Memorial Sloan ] Kettering Cancer Center. SH is supported by an NHMRC Program Grant to GCT. Details of the funding of individual investigators and studies are provided in the Supplementary Note. This study made use of data generated by the Wellcome Trust Case Control consortium, funding for which was provided by the Wellcome Trust under award 076113. The results published here are, in part, based upon data generated by The Cancer Genome Atlas Pilot Project established by the National Cancerhttp://dx.doi.org/10.1038/ng.3185This is the Author Accepted Manuscript of 'Identification of six new susceptibility loci for invasive epithelial ovarian cancer' which was published in Nature Genetics 47, 164–171 (2015) © Nature Publishing Group - content may only be used for academic research

The protein histidine phosphatase LHPP is a tumour suppressor

Histidine phosphorylation, the so-called hidden phosphoproteome, is a poorly characterized post-translational modification of proteins. Here we describe a role of histidine phosphorylation in tumorigenesis. Proteomic analysis of 12 tumours from an mTOR-driven hepatocellular carcinoma mouse model revealed that NME1 and NME2, the only known mammalian histidine kinases, were upregulated. Conversely, expression of the putative histidine phosphatase LHPP was downregulated specifically in the tumours. We demonstrate that LHPP is indeed a protein histidine phosphatase. Consistent with these observations, global histidine phosphorylation was significantly upregulated in the liver tumours. Sustained, hepatic expression of LHPP in the hepatocellular carcinoma mouse model reduced tumour burden and prevented the loss of liver function. Finally, in patients with hepatocellular carcinoma, low expression of LHPP correlated with increased tumour severity and reduced overall survival. Thus, LHPP is a protein histidine phosphatase and tumour suppressor, suggesting that deregulated histidine phosphorylation is oncogenic

The Somatic Genomic Landscape of Glioblastoma

We describe the landscape of somatic genomic alterations based on multi-dimensional and comprehensive characterization of more than 500 glioblastoma tumors (GBMs). We identify several novel mutated genes as well as complex rearrangements of signature receptors including EGFR and PDGFRA. TERT promoter mutations are shown to correlate with elevated mRNA expression, supporting a role in telomerase reactivation. Correlative analyses confirm that the survival advantage of the proneural subtype is conferred by the G-CIMP phenotype, and MGMT DNA methylation may be a predictive biomarker for treatment response only in classical subtype GBM. Integrative analysis of genomic and proteomic profiles challenges the notion of therapeutic inhibition of a pathway as an alternative to inhibition of the target itself. These data will facilitate the discovery of therapeutic and diagnostic target candidates, the validation of research and clinical observations and the generation of unanticipated hypotheses that can advance our molecular understanding of this lethal cancer

Fuzzy Description Logics from a Mathematical Fuzzy Logic point of view

[spa]El trabajo desarrollado en esta tesis es una propuesta de sistematizar la formalización de las Lógicas de la Descripción Fuzzy a partir de la Lógica Difusa Matemática. Para ello se define un lenguaje para las Lógicas de la Descripción Fuzzy que extiende el lenguaje de la primera tradición de esta disciplina para adaptarlo al lenguaje más propio de la Lógica Difusa Matemática. Desde el punto de vista semántico, la teoría de conjuntos borrosos cede el paso a una semántica algebraica, que es la que se utiliza en la Lógica Difusa Matemática y que resuelve las consecuencias poco intuitivas que tenía la semántica tradicional. A partir de esta formalización, se tratan temas que eran tradicionales en las Lógicas de la Descripción clásicas como son las jerarquías de inclusiones entre lenguajes de la descripción y la relación de las Lógicas de la Descripción Fuzzy con la Lógica Difusa de primer orden por un lado y la Lógica Difusa Multi-modal por el otro. En relación a problemas de decidibilidad se demuestra que la satisfacción y la subsunción de conceptos en el lenguaje ALE bajo una semántica basada en la Lógica del Producto son problemas decidibles. También se demuestra que la consistencia de bases de conocimiento en el lenguaje ALC bajo una semántica basada en la Lógica de Lukasiewicz es un problema indecidible. En relación a problemas de complejidad computacional se demuestra que satisfacción y validez de fórmulas en la Lógica Modal minimal de Lukasiewicz con valores finitos son problemas PSPACE-completos. También se demuestra que la satisfacción y subsunción de conceptos en el lenguaje IALCED bajo una semántica basada en cualquier lógica difusa con valores finitos son problemas PSPACE-completos. Otra contribución de nuestro trabajo es el estudio sistemático de algoritmos de decisión para la satisfacción y subsunción de conceptos en el lenguaje IALCED, respecto a modelos “witnessed", basados en una reducción de es- tos problemas a los problemas de satisfacción y consecuencia en la lógica proposicional correspondiente[eng]Description Logic is a formalism that is widely used in the framework of Knowledge Representation and Reasoning in Artificial Intelligence. They are based on Classical Logic in order to guarantee the correctness of the inferences on the required reasoning tasks. It is indeed a fragment of First Order Predicate Logic whose language is strictly related to the one of Modal Logic. Fuzzy Description Logic is the generalization of the classical Description Logic framework thought for reasoning with vague concepts that often arise in practical applications. Fuzzy Description Logic has been investigated since the last decade of the 20th century. During the first fifteen years of investigation their semantics has been based on Fuzzy Set Theory. A semantics based on Fuzzy Set Theory, however, has been shown to have some counter-intuitive behavior, due to the fact that the truth function for the implication used is not the residuum of the truth function for the conjunction. In the meanwhile, Fuzzy Logic has been given a formal framework based on Many-valued Logic. This framework, called Mathematical Fuzzy Logic, has been proposed has the kernel of a mathematically well founded Fuzzy Logic. In this dissertation we propose a Fuzzy Description Logic whose semantics is based on Mathematical Fuzzy Logic as its mathematically well settled kernel. To this end we provide a novel notation that is strictly related to the notation that is used in Mathematical Fuzzy Logic. After having settled the notation, we investigate the hierarchies of description languages over different-“t” norm based semantics and the reductions that can be performed between reasoning tasks. The new framework that we establish gives us the possibility to systematically investigate the relation of Fuzzy Description Logic to Fuzzy First Order Logic and Fuzzy Modal Logic. Next we provide some (un)decidability results for the case of infinite “t”-norm based semantics with or without knowledge bases. Finally we investigate the complexity bounds of reasoning tasks without knowledge bases for basic Fuzzy Description Logics over finite “t”-norms