18 research outputs found

    The Human Phenotype Ontology in 2024: phenotypes around the world.

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    The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease, enabling computational inference and supporting genomic and phenotypic analyses through semantic similarity and machine learning algorithms. The HPO has widespread applications in clinical diagnostics and translational research, including genomic diagnostics, gene-disease discovery, and cohort analytics. In recent years, groups around the world have developed translations of the HPO from English to other languages, and the HPO browser has been internationalized, allowing users to view HPO term labels and in many cases synonyms and definitions in ten languages in addition to English. Since our last report, a total of 2239 new HPO terms and 49235 new HPO annotations were developed, many in collaboration with external groups in the fields of psychiatry, arthrogryposis, immunology and cardiology. The Medical Action Ontology (MAxO) is a new effort to model treatments and other measures taken for clinical management. Finally, the HPO consortium is contributing to efforts to integrate the HPO and the GA4GH Phenopacket Schema into electronic health records (EHRs) with the goal of more standardized and computable integration of rare disease data in EHRs

    Strategic maneuvering and appellate argumentation in Boumediene v. Bush

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    Strategic maneuvering can account for the complexities of appellate argumentation in the U.S. This specialized type of reasoning is distinct from the activity type of adjudication identified in strategic maneuvering, a theory that explains the interplay between rhetorical and dialectical features of many types of argumentation. Van Eemeren and Houtlosser (2009, p. 5) describe strategic maneuvering as a way of reconciling how arguers pursue "rhetorical aims of effectiveness" at the same time they retain "dialectical standards of reasonableness". My goal is to extend strategic maneuvering theory and then apply it to the appellate argumentation in the majority and dissenting opinion in Boumediene v. Bush (553 U.S. 723, 2008). To do so, the essay explains strategic maneuvering in appellate argumentation, describes the Boumediene case, emphasizes how rhetorical features permeate the dialectical processes of appellate argumentation, and gives examples of the argumentation of Justice Anthony Kennedy and Chief Justice John Roberts in this case.La maniobra estratégica puede servir para el análisis de las complejidades de la apelación argumentativa en los Estados Unidos. Este tipo especializado de razonamiento es diferente de la actividad tipo de adjudicación identificada en la teoría de la maniobra estratégica que explica la relación entre retórica y dialéctica característica de muchos tipos de argumentación. Van Eemeren y Houtlosser (2009, p 5) describen la maniobra estratégica como una forma de reconciliación de cómo los argumentadores persiguen los "objetivos retóricos de la efectividad" al mismo tiempo que retienen "los estándares de razonabilidad". Mi objetivo es extender la teoría de la maniobra estratégica y luego aplicarla a la apelación argumentativa en la mayoría de las opiniones que disienten en el caso Boumediene vs. Bush (553 U.S. 723, 2008). Para lograr esto, el ensayo explica la maniobra estratégica en la apelación argumentativa, describe el caso Boumediene, enfatiza cómo las características retóricas permean el proceso dialéctico de la apelación argumentativa, y da ejemplos de argumentación de Anthony Kennedy y John Roberts de este caso

    Flaw and damage assessment in torsionally loaded CFRP cylinders using experimental and numerical methods

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    CFRP structural elements are prone to failure initiating from defects. While defects are expected after damage has occurred, flaws and voids can already be present after manufacturing. To study the criticality of such defects, CFRP cylinders have been manufactured from a lay-up that was designed to predict damage mode and to allow for controlled damage growth under torsional load. FEA simulations of defect-free and flawed cylinder models were performed to first ply/interface failure. X-ray computed tomography revealed that cylinders manufactured with different finishing had a completely different void content and distribution. Simulations of failure, using finite element models, for the two classes of void distribution are corroborated by experimental results for the ultimate load, and damage initiation from manufacturing flaws is confirmed. Digital speckle pattern interferometry was used to identify flaws using thermal and mechanical loading, while infrared thermography and thermoelastic stress analysis were used to identify possible failure initiation sites and monitor the failure process and damage growth, whilst the specimen was loaded in torsion

    Small intestinal microbial dysbiosis underlies symptoms associated with functional gastrointestinal disorders

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    Small intestinal bacterial overgrowth (SIBO) has been associated with functional gastrointestinal disorders. Here, the authors show that SIBO may be a result of dietary preferences, and patient symptoms correlate with changes in small intestinal microbial composition but not with SIBO
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