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1.
Database (Oxford) ; 20242024 Jun 06.
Article de Anglais | MEDLINE | ID: mdl-38843311

RÉSUMÉ

As a prospective payment method, diagnosis-related groups (DRGs)'s implementation has varying effects on different regions and adopt different case classification systems. Our goal is to build a structured public online knowledgebase describing the worldwide practice of DRGs, which includes systematic indicators for DRGs' performance assessment. Therefore, we manually collected the qualified literature from PUBMED and constructed DRGKB website. We divided the evaluation indicators into four categories, including (i) medical service quality; (ii) medical service efficiency; (iii) profitability and sustainability; (iv) case grouping ability. Then we carried out descriptive analysis and comprehensive scoring on outcome measurements performance, improvement strategy and specialty performance. At last, the DRGKB finally contains 297 entries. It was found that DRGs generally have a considerable impact on hospital operations, including average length of stay, medical quality and use of medical resources. At the same time, the current DRGs also have many deficiencies, including insufficient reimbursement rates and the ability to classify complex cases. We analyzed these underperforming parts by domain. In conclusion, this research innovatively constructed a knowledgebase to quantify the practice effects of DRGs, analyzed and visualized the development trends and area performance from a comprehensive perspective. This study provides a data-driven research paradigm for following DRGs-related work along with a proposed DRGs evolution model. Availability and implementation: DRGKB is freely available at http://www.sysbio.org.cn/drgkb/. Database URL: http://www.sysbio.org.cn/drgkb/.


Sujet(s)
Groupes homogènes de malades , Bases de connaissances , Humains
2.
Sci Rep ; 14(1): 13939, 2024 06 17.
Article de Anglais | MEDLINE | ID: mdl-38886444

RÉSUMÉ

Feed efficiency (FE) is essential for pig production, has been reported to be partially explained by gut microbiota. Despite an extensive body of research literature to this topic, studies regarding the regulation of feed efficiency by gut microbiota remain fragmented and mostly confined to disorganized or semi-structured unrestricted texts. Meanwhile, structured databases for microbiota analysis are available, yet they often lack a comprehensive understanding of the associated biological processes. Therefore, we have devised an approach to construct a comprehensive knowledge graph by combining unstructured textual intelligence with structured database information and applied it to investigate the relationship between pig gut microbes and FE. Firstly, we created the pgmReading knowledge base and the domain ontology of pig gut microbiota by annotating, extracting, and integrating semantic information from 157 scientific publications. Secondly, we created the pgmPubtator by utilizing PubTator to expand the semantic information related to microbiota. Thirdly, we created the pgmDatabase by mapping and combining the ADDAGMA, gutMGene, and KEGG databases based on the ontology. These three knowledge bases were integrated to form the Pig Gut Microbial Knowledge Graph (PGMKG). Additionally, we created five biological query cases to validate the performance of PGMKG. These cases not only allow us to identify microbes with the most significant impact on FE but also provide insights into the metabolites produced by these microbes and the associated metabolic pathways. This study introduces PGMKG, mapping key microbes in pig feed efficiency and guiding microbiota-targeted optimization.


Sujet(s)
Aliment pour animaux , Microbiome gastro-intestinal , Animaux , Suidae , Bases de connaissances , Bases de données factuelles
3.
J Res Adolesc ; 34(2): 507-512, 2024 Jun.
Article de Anglais | MEDLINE | ID: mdl-38803300

RÉSUMÉ

Ongoing internal dialog on the limitations of Euro-American developmental science has opened up space to explore how best to work toward a knowledge base that is adequately representative of the values, cultures, epistemic traditions, and lived experiences of peoples, nations, and regions around the world. So far, recommendations for the advancement of a global developmental science have focused preponderantly on (1) methodological considerations and (2) an architecture to support cross-disciplinary international collaborative inquiry and/or enhance research capacity building for Majority World scholars and institutions. In this commentary, instead of focusing on specific contributions to the Special Issue, I make a case for an explicit commitment to field-building within Majority World contexts as the primary gap-closing path toward the cultivation of a global developmental science knowledge base. I begin with a worldwide population analysis to demonstrate the magnitude of geopolitical, eco-cultural, and epistemic imbalances inherent in the shaping of Euro-American developmental science. In tandem with the Special Issue's central theme, I draw on scholarship from the fields of history, sociology, and political economy to link decolonial theory to the advancement of a global developmental science. Finally, I explore ways in which exemplary research establishments already engaged in prolific inquiry and research training may be ideal candidates to support field-building and help to advance multidisciplinary inquiry within an ethos of epistemic and methodological pluralism.


Sujet(s)
Développement de l'adolescent , Diversité culturelle , Humains , Adolescent , Bases de connaissances , Internationalité
4.
J Am Med Inform Assoc ; 31(7): 1561-1568, 2024 Jun 20.
Article de Anglais | MEDLINE | ID: mdl-38758661

RÉSUMÉ

OBJECTIVES: Linking information on Japanese pharmaceutical products to global knowledge bases (KBs) would enhance international collaborative research and yield valuable insights. However, public access to mappings of Japanese pharmaceutical products that use international controlled vocabularies remains limited. This study mapped YJ codes to RxNorm ingredient classes, providing new insights by comparing Japanese and international drug-drug interaction (DDI) information using a case study methodology. MATERIALS AND METHODS: Tables linking YJ codes to RxNorm concepts were created using the application programming interfaces of the Kyoto Encyclopedia of Genes and Genomes and the National Library of Medicine. A comparative analysis of Japanese and international DDI information was thus performed by linking to an international DDI KB. RESULTS: There was limited agreement between the Japanese and international DDI severity classifications. Cross-tabulation of Japanese and international DDIs by severity showed that 213 combinations classified as serious DDIs by an international KB were missing from the Japanese DDI information. DISCUSSION: It is desirable that efforts be undertaken to standardize international criteria for DDIs to ensure consistency in the classification of their severity. CONCLUSION: The classification of DDI severity remains highly variable. It is imperative to augment the repository of critical DDI information, which would revalidate the utility of fostering collaborations with global KBs.


Sujet(s)
Interactions médicamenteuses , Bases de connaissances , RxNorm , Japon , Humains , Vocabulaire contrôlé , Peuples d'Asie de l'Est
5.
Neural Netw ; 176: 106327, 2024 Aug.
Article de Anglais | MEDLINE | ID: mdl-38692187

RÉSUMÉ

Few-shot Event Detection (FSED) aims to identify novel event types in new domains with very limited annotated data. Previous PN-based (Prototypical Network) joint methods suffer from insufficient learning of token-wise label dependency and inaccurate prototypes. To solve these problems, we propose a span-based FSED model, called SpanFSED, which decomposes FSED into two subprocesses, including span extractor and event classifier. In span extraction, we convert sequential labels into a global boundary matrix that enables the span extractor to acquire precise boundary information irrespective of label dependency. In event classification, we align event types with an outside knowledge base like FrameNet and construct an enhanced support set, which injects more trigger information into the prototypical network of event prototypes. The superior performance of SpanFSED is demonstrated through extensive experiments on four event detection datasets, i.e., ACE2005, ERE, MAVEN and FewEvent. Access to our code and data is facilitated through the following link: .


Sujet(s)
, Algorithmes , Humains , Bases de connaissances , Apprentissage machine
6.
Bioinformatics ; 40(6)2024 Jun 03.
Article de Anglais | MEDLINE | ID: mdl-38806182

RÉSUMÉ

MOTIVATION: ReactomeGSA is part of the Reactome knowledgebase and one of the leading multi-omics pathway analysis platforms. ReactomeGSA provides access to quantitative pathway analysis methods supporting different 'omics data types. Additionally, ReactomeGSA can process different datasets simultaneously, leading to a comparative pathway analysis that can also be performed across different species. RESULTS: We present a major update to the ReactomeGSA analysis platforms that greatly simplifies the reuse and direct integration of public data. In order to increase the number of available datasets, we developed the new grein_loader Python application that can directly fetch experiments from the GREIN resource. This enabled us to support both EMBL-EBI's Expression Atlas and GEO RNA-seq Experiments Interactive Navigator within ReactomeGSA. To further increase the visibility and simplify the reuse of public datasets, we integrated a novel search function into ReactomeGSA that enables users to search for public datasets across both supported resources. Finally, we completely re-developed ReactomeGSA's web-frontend and R/Bioconductor package to support the new search and loading features, and greatly simplify the use of ReactomeGSA. AVAILABILITY AND IMPLEMENTATION: The new ReactomeGSA web frontend is available at https://www.reactome.org/gsa with an built-in, interactive tutorial. The ReactomeGSA R package (https://bioconductor.org/packages/release/bioc/html/ReactomeGSA.html) is available through Bioconductor and shipped with detailed documentation and vignettes. The grein_loader Python application is available through the Python Package Index (pypi). The complete source code for all applications is available on GitHub at https://github.com/grisslab/grein_loader and https://github.com/reactome.


Sujet(s)
Logiciel , Humains , Biologie informatique/méthodes , Bases de connaissances
7.
Article de Anglais | MEDLINE | ID: mdl-38743552

RÉSUMÉ

Physical therapists play a crucial role in guiding patients through effective and safe rehabilitation processes according to medical guidelines. However, due to the therapist-patient imbalance, it is neither economical nor feasible for therapists to provide guidance to every patient during recovery sessions. Automated assessment of physical rehabilitation can help with this problem, but accurately quantifying patients' training movements and providing meaningful feedback poses a challenge. In this paper, an Expert-knowledge-based Graph Convolutional approach is proposed to automate the assessment of the quality of physical rehabilitation exercises. This approach utilizes experts' knowledge to improve the spatial feature extraction ability of the Graph Convolutional module and a Gated pooling module for feature aggregation. Additionally, a Transformer module is employed to capture long-range temporal dependencies in the movements. The attention scores and weight matrix obtained through this approach can serve as interpretability tools to help therapists understand the assessment model and assist patients in improving their exercises. The effectiveness of the proposed method is verified on the KIMORE dataset, achieving state-of-the-art performance compared to existing models. Experimental results also illustrate the interpretability of the method in both spatial and temporal dimensions.


Sujet(s)
Algorithmes , Traitement par les exercices physiques , , Humains , Traitement par les exercices physiques/méthodes , Mâle , Réadaptation/méthodes , Bases de connaissances , Mouvement/physiologie , Systèmes experts , Femelle , Adulte
8.
Phys Med ; 121: 103364, 2024 May.
Article de Anglais | MEDLINE | ID: mdl-38701626

RÉSUMÉ

PURPOSE: Test whether a well-grounded KBP model trained on moderately hypo-fractionated prostate treatments can be used to satisfactorily drive the optimization of SBRT prostate treatments. MATERIALS AND METHODS: A KBP model (SBRT-model) was developed, trained and validated using the first forty-seven clinically treated VMAT SBRT prostate plans (42.7 Gy/7fx or 36.25 Gy/5fx). The performance and robustness of this model were compared against a high-quality KBP-model (ST-model) that was already clinically adopted for hypo-fractionated (70 Gy/28fx and 60 Gy/20fx) prostate treatments. The two models were compared in terms of their predictions robustness, and the quality of their outcomes were evaluated against a set of reference clinical SBRT plans. Plan quality was assessed using DVH metrics, blinded clinical ranking, and a dedicated Plan Quality Metric algorithm. RESULTS: The plan libraries of the two models were found to share a high degree of anatomical similarity. The overall quality (APQM%) of the plans obtained both with the ST- and SBRT-models was compatible with that of the original clinical plans, namely (93.7 ± 4.1)% and (91.6 ± 3.9)% vs (92.8.9 ± 3.6)%. Plans obtained with the ST-model showed significantly higher target coverage (PTV V95%): (97.9 ± 0.8)% vs (97.1 ± 0.9)% (p < 0.05). Conversely, plans optimized following the SBRT-model showed a small but not-clinically relevant increase in OAR sparing. ST-model generally provided more reliable predictions than SBRT-model. Two radiation oncologists judged as equivalent the plans based on the KBP prediction, which was also judged better that reference clinical plans. CONCLUSION: A KBP model trained on moderately fractionated prostate treatment plans provided optimal SBRT prostate plans, with similar or larger plan quality than an embryonic SBRT-model based on a limited number of cases.


Sujet(s)
Tumeurs de la prostate , Radiochirurgie , Planification de radiothérapie assistée par ordinateur , Humains , Planification de radiothérapie assistée par ordinateur/méthodes , Radiochirurgie/méthodes , Mâle , Tumeurs de la prostate/radiothérapie , Bases de connaissances , Radiothérapie conformationnelle avec modulation d'intensité/méthodes , Dosimétrie en radiothérapie
9.
Nutr Bull ; 49(2): 220-234, 2024 Jun.
Article de Anglais | MEDLINE | ID: mdl-38773712

RÉSUMÉ

A healthy lifestyle comprising regular physical activity and an adequate diet is imperative for the prevention of non-communicable diseases such as hypertension and some cancers. Advances in information computer technology offer the opportunity to provide personalised lifestyle advice directly to the individual through devices such as smartphones or tablets. The overall aim of the PROTEIN project (Wilson-Barnes et al., 2021) was to develop a smartphone application that could provide tailored and dynamic nutrition and physical activity advice directly to the individual in real time. However, to create this mobile health (m-health) smartphone application, a knowledge base of reference ranges for macro-/micronutrient intake, anthropometry, biochemical, physiological and sleep parameters was required to underpin the parameters of the recommender systems. Therefore, the principal aim of this emerging research paper is to describe the process by which experts in nutrition and physiology from the PROTEIN consortium collaborated to develop the nutritional and physical activity requirements, based upon existing recommendations, for 10 separate population groups living within the EU including, but not limited to healthy adults, adults with type 2 diabetes mellitus, cardiovascular disease, excess weight, obesity and iron deficiency anaemia. A secondary aim is to describe the development of a library of 24-h meal plans appropriate for the same groups and also encompassing various dietary preferences and allergies. Overall, the consortium devised an extensive nutrition and physical activity knowledge base that is pertinent to 10 separate EU user groups, is available in 7 different languages and is practically implemented via a library of culturally appropriate, 24-h meal plans.


Sujet(s)
Exercice physique , Bases de connaissances , Applications mobiles , Humains , Adulte , Union européenne , État nutritionnel , Femelle , Mâle , Médecine de précision/méthodes , Régime alimentaire , Besoins nutritifs , Adulte d'âge moyen , Ordiphone , Télémédecine
10.
J Evid Based Med ; 17(2): 307-316, 2024 Jun.
Article de Anglais | MEDLINE | ID: mdl-38556728

RÉSUMÉ

AIM: It is essential for health researchers to have a systematic understanding of third-party variables that influence both the exposure and outcome under investigation, as shown by a directed acyclic graph (DAG). The traditional construction of DAGs through literature review and expert knowledge often needs to be more systematic and consistent, leading to potential biases. We try to introduce an automatic approach to building network linking variables of interest. METHODS: Large-scale text mining from medical literature was utilized to construct a conceptual network based on the Semantic MEDLINE Database (SemMedDB). SemMedDB is a PubMed-scale repository of the "concept-relation-concept" triple format. Relations between concepts are categorized as Excitatory, Inhibitory, or General. RESULTS: To facilitate the use of large-scale triple sets in SemMedDB, we have developed a computable biomedical knowledge (CBK) system (https://cbk.bjmu.edu.cn/), a website that enables direct retrieval of related publications and their corresponding triples without the necessity of writing SQL statements. Three case studies were elaborated to demonstrate the applications of the CBK system. CONCLUSIONS: The CBK system is openly available and user-friendly for rapidly capturing a set of influencing factors for a phenotype and building candidate DAGs between exposure-outcome variables. It could be a valuable tool to reduce the exploration time in considering relationships between variables, and constructing a DAG. A reliable and standardized DAG could significantly improve the design and interpretation of observational health research.


Sujet(s)
Fouille de données , Fouille de données/méthodes , Humains , Bases de connaissances , Medline
11.
Sci Data ; 11(1): 363, 2024 Apr 11.
Article de Anglais | MEDLINE | ID: mdl-38605048

RÉSUMÉ

Translational research requires data at multiple scales of biological organization. Advancements in sequencing and multi-omics technologies have increased the availability of these data, but researchers face significant integration challenges. Knowledge graphs (KGs) are used to model complex phenomena, and methods exist to construct them automatically. However, tackling complex biomedical integration problems requires flexibility in the way knowledge is modeled. Moreover, existing KG construction methods provide robust tooling at the cost of fixed or limited choices among knowledge representation models. PheKnowLator (Phenotype Knowledge Translator) is a semantic ecosystem for automating the FAIR (Findable, Accessible, Interoperable, and Reusable) construction of ontologically grounded KGs with fully customizable knowledge representation. The ecosystem includes KG construction resources (e.g., data preparation APIs), analysis tools (e.g., SPARQL endpoint resources and abstraction algorithms), and benchmarks (e.g., prebuilt KGs). We evaluated the ecosystem by systematically comparing it to existing open-source KG construction methods and by analyzing its computational performance when used to construct 12 different large-scale KGs. With flexible knowledge representation, PheKnowLator enables fully customizable KGs without compromising performance or usability.


Sujet(s)
Disciplines des sciences biologiques , Bases de connaissances , Reconnaissance automatique des formes , Algorithmes ,
12.
Brief Bioinform ; 25(3)2024 Mar 27.
Article de Anglais | MEDLINE | ID: mdl-38678388

RÉSUMÉ

Cyclic peptides offer a range of notable advantages, including potent antibacterial properties, high binding affinity and specificity to target molecules, and minimal toxicity, making them highly promising candidates for drug development. However, a comprehensive database that consolidates both synthetically derived and naturally occurring cyclic peptides is conspicuously absent. To address this void, we introduce CyclicPepedia (https://www.biosino.org/iMAC/cyclicpepedia/), a pioneering database that encompasses 8744 known cyclic peptides. This repository, structured as a composite knowledge network, offers a wealth of information encompassing various aspects of cyclic peptides, such as cyclic peptides' sources, categorizations, structural characteristics, pharmacokinetic profiles, physicochemical properties, patented drug applications, and a collection of crucial publications. Supported by a user-friendly knowledge retrieval system and calculation tools specifically designed for cyclic peptides, CyclicPepedia will be able to facilitate advancements in cyclic peptide drug development.


Sujet(s)
Bases de connaissances , Peptides cycliques , Peptides cycliques/composition chimique , Bases de données de protéines
13.
Br J Radiol ; 97(1158): 1153-1161, 2024 May 29.
Article de Anglais | MEDLINE | ID: mdl-38637944

RÉSUMÉ

OBJECTIVES: The aim of this study was to determine the number of trade-off explored (TO) library plans required for building a RapidPlan (RP) library that would generate the optimal clinical treatment plan. METHODS: We developed 2 RP models, 1 each for the 2 clinical sites, head and neck (HN) and cervix. The models were created using 100 plans and were validated using 70 plans (VP) for each site respectively. Each of the 2 libraries comprising 100 TO plans was divided into 5 different subsets of library plans comprising 20, 40, 60, 80, and 100 plans, leading to 5 different RP models for each site. For every validation patient, a TO plan (TO_VP) was created. For every patient, 5 RP plans were automatically generated using RP models. The dosimetric parameters of the 6 plans (TO_VP + 5 RP plans) were compared using Pearson correlation and Greenhouse-Geisser analysis. RESULTS: Planning target volume (PTV) dose volume parameters PTVD95% in 6 competing plans varied between 97.6 ± 0.7% and 98.1 ± 0.6% in HN cases and 98.8 ± 0.3% and 99.0 ± 0.4% in cervix cases. Overall, for both sites, the mean variations in organ at risk (OAR) doses or volumes were within 50 cGy, 0.5%, and 0.2 cc between library plans, and if TO_VP was included the variations deteriorated to 180 cGy, 0.4%, and 15 cc. All OARs in both sites, except D0.1 ccspine, showed a statistically insignificant variation between all plans. CONCLUSIONS: Dosimetric variation among various output plans generated from 5 RP libraries is minimal and clinically insignificant. The optimal output plan can be derived from the least-weighted library consisting of 20 plans. ADVANCES IN KNOWLEDGE: This article shows that, when the constituent plans are subjected to trade-off exploration, the number of constituent plans for a knowledge-based planning module is not relevant in terms of its dosimetric output.


Sujet(s)
Tumeurs de la tête et du cou , Dosimétrie en radiothérapie , Planification de radiothérapie assistée par ordinateur , Tumeurs du col de l'utérus , Humains , Planification de radiothérapie assistée par ordinateur/méthodes , Femelle , Tumeurs de la tête et du cou/radiothérapie , Tumeurs du col de l'utérus/radiothérapie , Bases de connaissances , Radiothérapie conformationnelle avec modulation d'intensité/méthodes
14.
Lung Cancer ; 191: 107787, 2024 May.
Article de Anglais | MEDLINE | ID: mdl-38593479

RÉSUMÉ

AIMS: To date, precision medicine has revolutionized the clinical management of Non-Small Cell Lung Cancer (NSCLC). International societies approved a rapidly improved mandatory testing biomarkers panel for the clinical stratification of NSCLC patients, but harmonized procedures are required to optimize the diagnostic workflow. In this context a knowledge-based database (Biomarkers ATLAS, https://biomarkersatlas.com/) was developed by a supervising group of expert pathologists and thoracic oncologists collecting updated clinical and molecular records from about 80 referral Italian institutions. Here, we audit molecular and clinical data from n = 1100 NSCLC patients collected from January 2019 to December 2020. METHODS: Clinical and molecular records from NSCLC patients were retrospectively collected from the two coordinating institutions (University of Turin and University of Naples). Molecular biomarkers (KRAS, EGFR, BRAF, ROS1, ALK, RET, NTRK, MET) and clinical data (sex, age, histological type, smoker status, PD-L1 expression, therapy) were collected and harmonized. RESULTS: Clinical and molecular data from 1100 (n = 552 mutated and n = 548 wild-type) NSCLC patients were systematized and annotated in the ATLAS knowledge-database. Molecular records from biomarkers testing were matched with main patients' clinical variables. CONCLUSIONS: Biomarkers ATLAS (https://biomarkersatlas.com/) represents a unique, easily managing, and reliable diagnostic tool aiming to integrate clinical records with molecular alterations of NSCLC patients in the real-word Italian scenario.


Sujet(s)
Marqueurs biologiques tumoraux , Carcinome pulmonaire non à petites cellules , Tumeurs du poumon , Humains , Carcinome pulmonaire non à petites cellules/diagnostic , Carcinome pulmonaire non à petites cellules/génétique , Carcinome pulmonaire non à petites cellules/anatomopathologie , Carcinome pulmonaire non à petites cellules/métabolisme , Tumeurs du poumon/diagnostic , Tumeurs du poumon/génétique , Tumeurs du poumon/anatomopathologie , Italie , Mâle , Femelle , Sujet âgé , Adulte d'âge moyen , Études rétrospectives , Bases de données factuelles , Bases de connaissances , Adulte , Sujet âgé de 80 ans ou plus
15.
Med Phys ; 51(5): 3207-3219, 2024 May.
Article de Anglais | MEDLINE | ID: mdl-38598107

RÉSUMÉ

BACKGROUND: Current methods for Gamma Knife (GK) treatment planning utilizes either manual forward planning, where planners manually place shots in a tumor to achieve a desired dose distribution, or inverse planning, whereby the dose delivered to a tumor is optimized for multiple objectives based on established metrics. For other treatment modalities like IMRT and VMAT, there has been a recent push to develop knowledge-based planning (KBP) pipelines to address the limitations presented by forward and inverse planning. However, no complete KBP pipeline has been created for GK. PURPOSE: To develop a novel (KBP) pipeline, using inverse optimization (IO) with 3D dose predictions for GK. METHODS: Data were obtained for 349 patients from Sunnybrook Health Sciences Centre. A 3D dose prediction model was trained using 322 patients, based on a previously published deep learning methodology, and dose predictions were generated for the remaining 27 out-of-sample patients. A generalized IO model was developed to learn objective function weights from dose predictions. These weights were then used in an inverse planning model to generate deliverable treatment plans. A dose mimicking (DM) model was also implemented for comparison. The quality of the resulting plans was compared to their clinical counterparts using standard GK quality metrics. The performance of the models was also characterized with respect to the dose predictions. RESULTS: Across all quality metrics, plans generated using the IO pipeline performed at least as well as or better than the respective clinical plans. The average conformity and gradient indices of IO plans was 0.737 ± $\pm$ 0.158 and 3.356 ± $\pm$ 1.030 respectively, compared to 0.713 ± $\pm$ 0.124 and 3.452 ± $\pm$ 1.123 for the clinical plans. IO plans also performed better than DM plans for five of the six quality metrics. Plans generated using IO also have average treatment times comparable to that of clinical plans. With regards to the dose predictions, predictions with higher conformity tend to result in higher quality KBP plans. CONCLUSIONS: Plans resulting from an IO KBP pipeline are, on average, of equal or superior quality compared to those obtained through manual planning. The results demonstrate the potential for the use of KBP to generate GK treatment with minimal human intervention.


Sujet(s)
Radiochirurgie , Dosimétrie en radiothérapie , Planification de radiothérapie assistée par ordinateur , Planification de radiothérapie assistée par ordinateur/méthodes , Radiochirurgie/méthodes , Humains , Bases de connaissances , Dose de rayonnement
16.
J Med Internet Res ; 26: e46777, 2024 Apr 18.
Article de Anglais | MEDLINE | ID: mdl-38635981

RÉSUMÉ

BACKGROUND: As global populations age and become susceptible to neurodegenerative illnesses, new therapies for Alzheimer disease (AD) are urgently needed. Existing data resources for drug discovery and repurposing fail to capture relationships central to the disease's etiology and response to drugs. OBJECTIVE: We designed the Alzheimer's Knowledge Base (AlzKB) to alleviate this need by providing a comprehensive knowledge representation of AD etiology and candidate therapeutics. METHODS: We designed the AlzKB as a large, heterogeneous graph knowledge base assembled using 22 diverse external data sources describing biological and pharmaceutical entities at different levels of organization (eg, chemicals, genes, anatomy, and diseases). AlzKB uses a Web Ontology Language 2 ontology to enforce semantic consistency and allow for ontological inference. We provide a public version of AlzKB and allow users to run and modify local versions of the knowledge base. RESULTS: AlzKB is freely available on the web and currently contains 118,902 entities with 1,309,527 relationships between those entities. To demonstrate its value, we used graph data science and machine learning to (1) propose new therapeutic targets based on similarities of AD to Parkinson disease and (2) repurpose existing drugs that may treat AD. For each use case, AlzKB recovers known therapeutic associations while proposing biologically plausible new ones. CONCLUSIONS: AlzKB is a new, publicly available knowledge resource that enables researchers to discover complex translational associations for AD drug discovery. Through 2 use cases, we show that it is a valuable tool for proposing novel therapeutic hypotheses based on public biomedical knowledge.


Sujet(s)
Maladie d'Alzheimer , Humains , Maladie d'Alzheimer/traitement médicamenteux , Maladie d'Alzheimer/génétique , Reconnaissance automatique des formes , Bases de connaissances , Apprentissage machine , Savoir
17.
Genetics ; 227(1)2024 05 07.
Article de Anglais | MEDLINE | ID: mdl-38531069

RÉSUMÉ

Mouse Genome Informatics (MGI) is a federation of expertly curated information resources designed to support experimental and computational investigations into genetic and genomic aspects of human biology and disease using the laboratory mouse as a model system. The Mouse Genome Database (MGD) and the Gene Expression Database (GXD) are core MGI databases that share data and system architecture. MGI serves as the central community resource of integrated information about mouse genome features, variation, expression, gene function, phenotype, and human disease models acquired from peer-reviewed publications, author submissions, and major bioinformatics resources. To facilitate integration and standardization of data, biocuration scientists annotate using terms from controlled metadata vocabularies and biological ontologies (e.g. Mammalian Phenotype Ontology, Mouse Developmental Anatomy, Disease Ontology, Gene Ontology, etc.), and by applying international community standards for gene, allele, and mouse strain nomenclature. MGI serves basic scientists, translational researchers, and data scientists by providing access to FAIR-compliant data in both human-readable and compute-ready formats. The MGI resource is accessible at https://informatics.jax.org. Here, we present an overview of the core data types represented in MGI and highlight recent enhancements to the resource with a focus on new data and functionality for MGD and GXD.


Sujet(s)
Bases de données génétiques , Génome , Animaux , Souris , Bases de connaissances , Génomique/méthodes , Biologie informatique/méthodes , Humains
18.
Int J Surg ; 110(6): 3412-3424, 2024 Jun 01.
Article de Anglais | MEDLINE | ID: mdl-38498357

RÉSUMÉ

BACKGROUND: Robot-assisted radical prostatectomy (RARP) has emerged as a pivotal surgical intervention for the treatment of prostate cancer (PCa). However, the complexity of clinical cases, heterogeneity of PCa, and limitations in physician expertise pose challenges to rational decision-making in RARP. To address these challenges, the authors aimed to organize the knowledge of previously complex cohorts and establish an online platform named the RARP knowledge base (RARPKB) to provide reference evidence for personalized treatment plans. MATERIALS AND METHODS: PubMed searches over the past two decades were conducted to identify publications describing RARP. The authors collected, classified, and structured surgical details, patient information, surgical data, and various statistical results from the literature. A knowledge-guided decision-support tool was established using MySQL, DataTable, ECharts, and JavaScript. ChatGPT-4 and two assessment scales were used to validate and compare the platform. RESULTS: The platform comprised 583 studies, 1589 cohorts, 1 911 968 patients, and 11 986 records, resulting in 54 834 data entries. The knowledge-guided decision support tool provide personalized surgical plan recommendations and potential complications on the basis of patients' baseline and surgical information. Compared with ChatGPT-4, RARPKB outperformed in authenticity (100% vs. 73%), matching (100% vs. 53%), personalized recommendations (100% vs. 20%), matching of patients (100% vs. 0%), and personalized recommendations for complications (100% vs. 20%). Postuse, the average System Usability Scale score was 88.88±15.03, and the Net Promoter Score of RARPKB was 85. The knowledge base is available at: http://rarpkb.bioinf.org.cn . CONCLUSIONS: The authors introduced the pioneering RARPKB, the first knowledge base for robot-assisted surgery, with an emphasis on PCa. RARPKB can assist in personalized and complex surgical planning for PCa to improve its efficacy. RARPKB provides a reference for the future applications of artificial intelligence in clinical practice.


Sujet(s)
Prostatectomie , Tumeurs de la prostate , Interventions chirurgicales robotisées , Humains , Mâle , Interventions chirurgicales robotisées/méthodes , Tumeurs de la prostate/chirurgie , Prostatectomie/méthodes , Bases de connaissances , Médecine de précision/méthodes , Techniques d'aide à la décision , Systèmes d'aide à la décision clinique
19.
Radiol Oncol ; 58(2): 289-299, 2024 Jun 01.
Article de Anglais | MEDLINE | ID: mdl-38452341

RÉSUMÉ

BACKGROUND: Craniospinal irradiation (CSI) poses a challenge to treatment planning due to the large target, field junction, and multiple organs at risk (OARs) involved. The aim of this study was to evaluate the performance of knowledge-based planning (KBP) in CSI by comparing original manual plans (MP), KBP RapidPlan initial plans (RPI), and KBP RapidPlan final plans (RPF), which received further re-optimization to meet the dose constraints. PATIENTS AND METHODS: Dose distributions in the target were evaluated in terms of coverage, mean dose, conformity index (CI), and homogeneity index (HI). The dosimetric results of OARs, planning time, and monitor unit (MU) were evaluated. RESULTS: All MP and RPF plans met the plan goals, and 89.36% of RPI plans met the plan goals. The Wilcoxon tests showed comparable target coverage, CI, and HI for the MP and RPF groups; however, worst plan quality was demonstrated in the RPI plans than in MP and RPF. For the OARs, RPF and RPI groups had better dosimetric results than the MP group (P < 0.05 for optic nerves, eyes, parotid glands, and heart). The planning time was significantly reduced by the KBP from an average of 677.80 min in MP to 227.66 min (P < 0.05) and 307.76 min (P < 0.05) in RPI, and RPF, respectively. MU was not significantly different between these three groups. CONCLUSIONS: The KBP can significantly reduce planning time in CSI. Manual re-optimization after the initial KBP is recommended to enhance the plan quality.


Sujet(s)
Irradiation craniospinale , Organes à risque , Dosimétrie en radiothérapie , Planification de radiothérapie assistée par ordinateur , Radiothérapie conformationnelle avec modulation d'intensité , Humains , Planification de radiothérapie assistée par ordinateur/méthodes , Irradiation craniospinale/méthodes , Radiothérapie conformationnelle avec modulation d'intensité/méthodes , Radiothérapie conformationnelle avec modulation d'intensité/normes , Organes à risque/effets des radiations , Enfant , Mâle , Enfant d'âge préscolaire , Adolescent , Femelle , Radiométrie/méthodes , Bases de connaissances
20.
J Am Med Inform Assoc ; 31(5): 1126-1134, 2024 Apr 19.
Article de Anglais | MEDLINE | ID: mdl-38481028

RÉSUMÉ

OBJECTIVE: Development of clinical phenotypes from electronic health records (EHRs) can be resource intensive. Several phenotype libraries have been created to facilitate reuse of definitions. However, these platforms vary in target audience and utility. We describe the development of the Centralized Interactive Phenomics Resource (CIPHER) knowledgebase, a comprehensive public-facing phenotype library, which aims to facilitate clinical and health services research. MATERIALS AND METHODS: The platform was designed to collect and catalog EHR-based computable phenotype algorithms from any healthcare system, scale metadata management, facilitate phenotype discovery, and allow for integration of tools and user workflows. Phenomics experts were engaged in the development and testing of the site. RESULTS: The knowledgebase stores phenotype metadata using the CIPHER standard, and definitions are accessible through complex searching. Phenotypes are contributed to the knowledgebase via webform, allowing metadata validation. Data visualization tools linking to the knowledgebase enhance user interaction with content and accelerate phenotype development. DISCUSSION: The CIPHER knowledgebase was developed in the largest healthcare system in the United States and piloted with external partners. The design of the CIPHER website supports a variety of front-end tools and features to facilitate phenotype development and reuse. Health data users are encouraged to contribute their algorithms to the knowledgebase for wider dissemination to the research community, and to use the platform as a springboard for phenotyping. CONCLUSION: CIPHER is a public resource for all health data users available at https://phenomics.va.ornl.gov/ which facilitates phenotype reuse, development, and dissemination of phenotyping knowledge.


Sujet(s)
Dossiers médicaux électroniques , Phénomique , Phénotype , Bases de connaissances , Algorithmes
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