8,504 research outputs found

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

    Get PDF
    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

    A Critical Review Of Post-Secondary Education Writing During A 21st Century Education Revolution

    Get PDF
    Educational materials are effective instruments which provide information and report new discoveries uncovered by researchers in specific areas of academia. Higher education, like other education institutions, rely on instructional materials to inform its practice of educating adult learners. In post-secondary education, developmental English programs are tasked with meeting the needs of dynamic populations, thus there is a continuous need for research in this area to support its changing landscape. However, the majority of scholarly thought in this area centers on K-12 reading and writing. This paucity presents a phenomenon to the post-secondary community. This research study uses a qualitative content analysis to examine peer-reviewed journals from 2003-2017, developmental online websites, and a government issued document directed toward reforming post-secondary developmental education programs. These highly relevant sources aid educators in discovering informational support to apply best practices for student success. Developmental education serves the purpose of addressing literacy gaps for students transitioning to college-level work. The findings here illuminate the dearth of material offered to developmental educators. This study suggests the field of literacy research is fragmented and highlights an apparent blind spot in scholarly literature with regard to English writing instruction. This poses a quandary for post-secondary literacy researchers in the 21st century and establishes the necessity for the literacy research community to commit future scholarship toward equipping college educators teaching writing instruction to underprepared adult learners

    Mapping Black Europe: Monuments, Markers, Memories

    Get PDF
    Black communities have been making major contributions to Europe's social and cultural life and landscapes for centuries. However, their achievements largely remain unrecognized by the dominant societies, as their perspectives are excluded from traditional modes of marking public memory. For the first time in European history, leading Black scholars and activists examine this issue - with first-hand knowledge of the eight European capitals in which they live. Highlighting existing monuments, memorials, and urban markers they discuss collective narratives, outline community action, and introduce people and places relevant to Black European history, which continues to be obscured today

    The future of cosmology? A case for CMB spectral distortions

    Full text link
    This thesis treats the topic of CMB Spectral Distortions (SDs), which represent any deviation from a pure black body shape of the CMB energy spectrum. As such, they can be used to probe the inflationary, expansion and thermal evolution of the universe both within őõ\LambdaCDM and beyond it. The currently missing observation of this rich probe of the universe makes of it an ideal target for future observational campaigns. In fact, while the őõ\LambdaCDM signal guarantees a discovery, the sensitivity to a wide variety of new physics opens the door to an enormous uncharted territory. In light of these considerations, the thesis opens by reviewing the topic of CMB SDs in a pedagogical and illustrative fashion, aimed at waking the interest of the broader community. This introductory premise sets the stage for the first main contribution of the thesis to the field of SDs: their implementation in the Boltzmann solver CLASS and the parameter inference code MontePython. The CLASS+MontePython pipeline is publicly available, fast, it includes all sources of SDs within őõ\LambdaCDM and many others beyond that, and allows to consistently account for any observational setup. By means of these numerical tools, the second main contribution of the thesis consists in showcasing the versatility and competitiveness of SDs for several cosmological models as well as for a number of different mission designs. Among others, the results cover features in the primordial power spectrum, primordial gravitational waves, non-standard dark matter properties, primordial black holes, primordial magnetic fields and Hubble tension. Finally, the manuscript is disseminated with (20) follow-up ideas that naturally extend the work carried out so far, highlighting how rich of unexplored possibilities the field of CMB SDs still is. The hope is that these suggestions will become a propeller for further interesting developments.Comment: PhD thesis. Pedagogical review of theory, experimental status and numerical tools (CLASS+MontePython) with broad overview of applications. Includes 20 original follow-up idea

    Surgical management of acute appendicitis during the European COVID-19 second wave : safe and effective

    Get PDF
    IntroductionThe COVID-19 (SARS-CoV-2) pandemic drove acute care surgeons to pivot from long established practice patterns. Early safety concerns regarding increased postoperative complication risk in those with active COVID infection promoted antibiotic-driven non-operative therapy for select conditions ahead of an evidence-base. Our study assesses whether active or recent SARS-CoV-2 positivity increases hospital length of stay (LOS) or postoperative complications following appendectomy.MethodsData were derived from the prospective multi-institutional observational SnapAppy cohort study. This preplanned data analysis assessed consecutive patients aged >= 15 years who underwent appendectomy for appendicitis (November 2020-May 2021). Patients were categorized based on SARS-CoV-2 seropositivity: no infection, active infection, and prior infection. Appendectomy method, LOS, and complications were abstracted. The association between SARS-CoV-2 seropositivity and complications was determined using Poisson regression, while the association with LOS was calculated using a quantile regression model.ResultsAppendectomy for acute appendicitis was performed in 4047 patients during the second and third European COVID waves. The majority were SARS-CoV-2 uninfected (3861, 95.4%), while 70 (1.7%) were acutely SARS-CoV-2 positive, and 116 (2.8%) reported prior SARS-CoV-2 infection. After confounder adjustment, there was no statistically significant association between SARS-CoV-2 seropositivity and LOS, any complication, or severe complications.ConclusionDuring sequential SARS-CoV-2 infection waves, neither active nor prior SARS-CoV-2 infection was associated with prolonged hospital LOS or postoperative complication. Despite early concerns regarding postoperative safety and outcome during active SARS-CoV-2 infection, no such association was noted for those with appendicitis who underwent operative management.Peer reviewe

    Focus, 2023, Winter

    Get PDF
    FOCUS (ISSN 1077-9345) is published quarterly, free of charge, for alumni and friends of Andrews University, an institution owned and operated by the Seventh-day Adventist Church.https://digitalcommons.andrews.edu/focus/1100/thumbnail.jp

    Coherent, time-shifted patterns of microstructural plasticity during motor-skill learning

    Full text link
    Motor skill learning relies on neural plasticity in the motor and limbic systems. However, the spatial and temporal characteristics of these changes-and their microstructural underpinnings-remain unclear. Eighteen healthy males received 1 h of training in a computer-based motion game, 4 times a week, for 4 consecutive weeks, while 14 untrained participants underwent scanning only. Performance improvements were observed in all trained participants. Serial myelin- and iron-sensitive multiparametric mapping at 3T during this period of intensive motor skill acquisition revealed temporally and spatially distributed, performance-related microstructural changes in the grey and white matter across a corticospinal-cerebellar-hippocampal circuit. Analysis of the trajectory of these transient changes suggested time-shifted cascades of plasticity from the dominant sensorimotor system to the contralateral hippocampus. In the cranial corticospinal tracts, changes in myelin-sensitive metrics during training in the posterior limb of the internal capsule were of greater magnitude in those who trained their upper limbs vs. lower limb trainees. Motor skill learning is associated with waves of grey and white matter plasticity, across a broad sensorimotor network

    Radula Dumort. (Radulaceae, Marchantiophyta) no Brasil.

    Get PDF
    Radula Dumort. √© o √ļnico g√™nero de Radulaceae com 200-250 esp√©cies distribu√≠das no mundo, apresentando maior diversidade nas regi√Ķes tropicais e subtropicais. As plantas desse grupo s√£o reconhecidas pela presen√ßa dos ramos do tipo-Radula, fil√≠dios √≠ncubos, anfigastros ausentes, presen√ßa de rizoides em tufos na superf√≠cie do l√≥bulo e perianto tubular, achatado dorsiventralmente. O objetivo deste trabalho √© realizar um estudo taxon√īmico do g√™nero Radula no Brasil baseado em caracteres morfol√≥gicos e na observa√ß√£o de esp√©cimes tipos e esp√©cimes adicionais depositados em herb√°rios. No total, foram reconhecidas 31 esp√©cies e duas variedade de Radula no pa√≠s. Foram descritas tr√™s esp√©cies novas e uma variedade nova para a ci√™ncia: Radula bahiensis, R. yamadae, R. renneri, e R. fendleri var. paroica. Foram registradas tr√™s novos ocorr√™ncias para o Brasil, incluindo Radula longiloba, R. punctata e R. xalapensis, duas esp√©cies s√£o confirmadas para o Brasil, R. pseudostachya e R. subinflata, tr√™s esp√©cies tiveram seus registros exclu√≠dos no pa√≠s, R. elliottii, R. varilobula e R. wrightii, e tr√™s esp√©cies foram classificadas como duvidosas, R. marginata, R. microloba e R. saccatiloba. Seis lect√≥tipos para Radula flaccida, R. epiphylla (=R. flaccida), R. quadrata, R. tectiloba, R. tenera e R. stenocalyx e um ne√≥tipo para R. yanoella foram designados. Radula obovata √© proposta como um sin√īnimo novo para R. pallens. Neste estudo √© fornecida uma chave dicot√īmica, descri√ß√Ķes, ilustra√ß√Ķes taxon√īmicas, coment√°rios sobre a distribui√ß√£o geogr√°fica e ecol√≥gica para todas as esp√©cies de Radula registradas no Brasil.Radula Dumort. is the only genus of Radulaceae with 200-250 species distributed worldwide, with high diversity in tropical and subtropical regions. The plants of this group are recognized by the presence of Radula-type branches, incubus leaves, underleaves absent, presence of rhizoids in tufts on the lobule surface and perianth tubular, dorsiventrally flattened. The objective of this work is to carry out a taxonomic study of the genus Radula in Brazil based on morphological characters and on the observation of type specimens and additional specimens deposited in herbaria. In total, 31 species and two varieties of Radula were recognized in the country. Three new species and one new variety to science were described: Radula bahiensis, R. yamadae, R. renneri, and R. fendleri var. paroica. Three new occurrences were registered for Brazil, including Radula longiloba, R. punctata and R. xalapensis, two species are confirmed for Brazil, R. pseudostachya and R. subinflata, three species had their records excluded in the country, R. elliottii, R. varilobula and R. wrightii, and three species were classified as doubtful, R. marginata, R. microloba and R. saccatiloba. Six lectotypes for Radula flaccida, R. epiphylla (=R. flaccida), R. quadrata, R. tectiloba, R. tenera and R. stenocalyx and one neotype for R. yanoella were assigned. Radula obovata is proposed as a new synonym for R. pallens. In this study a dichotomous key, descriptions, taxonomic illustrations, comments on the geographic and ecological distribution for all Radula species recorded in Brazil are provided
    • ‚Ķ
    corecore