JMIR Medical Informatics最新文献

{"title":"Transforming Informed Consent Generation Using Large Language Models: Mixed Methods Study.","authors":"Qiming Shi, Katherine Luzuriaga, Jeroan J Allison, Asil Oztekin, Jamie M Faro, Joy L Lee, Nathaniel Hafer, Margaret McManus, Adrian H Zai","doi":"10.2196/68139","DOIUrl":"10.2196/68139","url":null,"abstract":"<p><strong>Background: </strong>Informed consent forms (ICFs) for clinical trials have become increasingly complex, often hindering participant comprehension and engagement due to legal jargon and lengthy content. The recent advances in large language models (LLMs) present an opportunity to streamline the ICF creation process while improving readability, understandability, and actionability.</p><p><strong>Objectives: </strong>This study aims to evaluate the performance of the Mistral 8x22B LLM in generating ICFs with improved readability, understandability, and actionability. Specifically, we evaluate the model's effectiveness in generating ICFs that are readable, understandable, and actionable while maintaining the accuracy and completeness.</p><p><strong>Methods: </strong>We processed 4 clinical trial protocols from the institutional review board of UMass Chan Medical School using the Mistral 8x22B model to generate key information sections of ICFs. A multidisciplinary team of 8 evaluators, including clinical researchers and health informaticians, assessed the generated ICFs against human-generated counterparts for completeness, accuracy, readability, understandability, and actionability. Readability, Understandability, and Actionability of Key Information indicators, which include 18 binary-scored items, were used to evaluate these aspects, with higher scores indicating greater accessibility, comprehensibility, and actionability of the information. Statistical analysis, including Wilcoxon rank sum tests and intraclass correlation coefficient calculations, was used to compare outputs.</p><p><strong>Results: </strong>LLM-generated ICFs demonstrated comparable performance to human-generated versions across key sections, with no significant differences in accuracy and completeness (P>.10). The LLM outperformed human-generated ICFs in readability (Readability, Understandability, and Actionability of Key Information score of 76.39% vs 66.67%; Flesch-Kincaid grade level of 7.95 vs 8.38) and understandability (90.63% vs 67.19%; P=.02). The LLM-generated content achieved a perfect score in actionability compared with the human-generated version (100% vs 0%; P<.001). Intraclass correlation coefficient for evaluator consistency was high at 0.83 (95% CI 0.64-1.03), indicating good reliability across assessments.</p><p><strong>Conclusions: </strong>The Mistral 8x22B LLM showed promising capabilities in enhancing the readability, understandability, and actionability of ICFs without sacrificing accuracy or completeness. LLMs present a scalable, efficient solution for ICF generation, potentially enhancing participant comprehension and consent in clinical trials.</p>","PeriodicalId":56334,"journal":{"name":"JMIR Medical Informatics","volume":"13 ","pages":"e68139"},"PeriodicalIF":3.1,"publicationDate":"2025-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11841745/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143416106","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Performance Assessment of Large Language Models in Medical Consultation: Comparative Study.","authors":"Sujeong Seo, Kyuli Kim, Heyoung Yang","doi":"10.2196/64318","DOIUrl":"10.2196/64318","url":null,"abstract":"<p><strong>Background: </strong>The recent introduction of generative artificial intelligence (AI) as an interactive consultant has sparked interest in evaluating its applicability in medical discussions and consultations, particularly within the domain of depression.</p><p><strong>Objective: </strong>This study evaluates the capability of large language models (LLMs) in AI to generate responses to depression-related queries.</p><p><strong>Methods: </strong>Using the PubMedQA and QuoraQA data sets, we compared various LLMs, including BioGPT, PMC-LLaMA, GPT-3.5, and Llama2, and measured the similarity between the generated and original answers.</p><p><strong>Results: </strong>The latest general LLMs, GPT-3.5 and Llama2, exhibited superior performance, particularly in generating responses to medical inquiries from the PubMedQA data set.</p><p><strong>Conclusions: </strong>Considering the rapid advancements in LLM development in recent years, it is hypothesized that version upgrades of general LLMs offer greater potential for enhancing their ability to generate \"knowledge text\" in the biomedical domain compared with fine-tuning for the biomedical field. These findings are expected to contribute significantly to the evolution of AI-based medical counseling systems.</p>","PeriodicalId":56334,"journal":{"name":"JMIR Medical Informatics","volume":"13 ","pages":"e64318"},"PeriodicalIF":3.1,"publicationDate":"2025-02-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11888074/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143411778","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Enhancing Surgery Scheduling in Health Care Settings With Metaheuristic Optimization Models: Algorithm Validation Study.","authors":"João Lopes, Tiago Guimarães, Júlio Duarte, Manuel Santos","doi":"10.2196/57231","DOIUrl":"10.2196/57231","url":null,"abstract":"<p><strong>Background: </strong>Health care is facing many challenges. The recent pandemic has caused a global reflection on how clinical and organizational processes should be organized, which requires the optimization of decision-making among managers and health care professionals to deliver care that is increasingly patient-centered. The efficiency of surgical scheduling is particularly critical, as it affects waiting list management and is susceptible to suboptimal decisions due to its complexity and constraints.</p><p><strong>Objective: </strong>In this study, in collaboration with one of the leading hospitals in Portugal, Centro Hospitalar e Universitário de Santo António (CHUdSA), a heuristic approach is proposed to optimize the management of the surgical center.</p><p><strong>Methods: </strong>CHUdSA's surgical scheduling process was analyzed over a specific period. By testing an optimization approach, the research team was able to prove the potential of artificial intelligence (AI)-based heuristic models in minimizing scheduling penalties-the financial costs incurred by procedures that were not scheduled on time.</p><p><strong>Results: </strong>The application of this approach demonstrated potential for significant improvements in scheduling efficiency. Notably, the implementation of the hill climbing (HC) and simulated annealing (SA) algorithms stood out in this implementation and minimized the scheduling penalty, scheduling 96.7% (415/429) and 84.4% (362/429) of surgeries, respectively. For the HC algorithm, the penalty score was 0 in the urology, obesity, and pediatric plastic surgery medical specialties. For the SA algorithm, the penalty score was 5100 in urology, 1240 in obesity, and 30 in pediatric plastic surgery. Together, this highlighted the ability of AI-heuristics to optimize the efficiency of this process and allowed for the scheduling of surgeries at closer dates compared to the manual method used by hospital professionals.</p><p><strong>Conclusions: </strong>Integrating these solutions into the surgical scheduling process increases efficiency and reduces costs. The practical implications are significant. By implementing these AI-driven strategies, hospitals can minimize patient wait times, maximize resource use, and enhance surgical outcomes through improved planning. This development highlights how AI algorithms can effectively adapt to changing health care environments, having a transformative impact.</p>","PeriodicalId":56334,"journal":{"name":"JMIR Medical Informatics","volume":"13 ","pages":"e57231"},"PeriodicalIF":3.1,"publicationDate":"2025-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11840878/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143400472","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correction: Distributed Statistical Analyses: A Scoping Review and Examples of Operational Frameworks Adapted to Health Analytics.","authors":"Félix Camirand Lemyre, Simon Lévesque, Marie-Pier Domingue, Klaus Herrmann, Jean-François Ethier","doi":"10.2196/71249","DOIUrl":"10.2196/71249","url":null,"abstract":"","PeriodicalId":56334,"journal":{"name":"JMIR Medical Informatics","volume":"13 ","pages":"e71249"},"PeriodicalIF":3.1,"publicationDate":"2025-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11835779/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143400462","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"InfectA-Chat, an Arabic Large Language Model for Infectious Diseases: Comparative Analysis.","authors":"Yesim Selcuk, Eunhui Kim, Insung Ahn","doi":"10.2196/63881","DOIUrl":"10.2196/63881","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Background: &lt;/strong&gt;Infectious diseases have consistently been a significant concern in public health, requiring proactive measures to safeguard societal well-being. In this regard, regular monitoring activities play a crucial role in mitigating the adverse effects of diseases on society. To monitor disease trends, various organizations, such as the World Health Organization (WHO) and the European Centre for Disease Prevention and Control (ECDC), collect diverse surveillance data and make them publicly accessible. However, these platforms primarily present surveillance data in English, which creates language barriers for non-English-speaking individuals and global public health efforts to accurately observe disease trends. This challenge is particularly noticeable in regions such as the Middle East, where specific infectious diseases, such as Middle East respiratory syndrome coronavirus (MERS-CoV), have seen a dramatic increase. For such regions, it is essential to develop tools that can overcome language barriers and reach more individuals to alleviate the negative impacts of these diseases.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Objective: &lt;/strong&gt;This study aims to address these issues; therefore, we propose InfectA-Chat, a cutting-edge large language model (LLM) specifically designed for the Arabic language but also incorporating English for question and answer (Q&A) tasks. InfectA-Chat leverages its deep understanding of the language to provide users with information on the latest trends in infectious diseases based on their queries.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;This comprehensive study was achieved by instruction tuning the AceGPT-7B and AceGPT-7B-Chat models on a Q&A task, using a dataset of 55,400 Arabic and English domain-specific instruction-following data. The performance of these fine-tuned models was evaluated using 2770 domain-specific Arabic and English instruction-following data, using the GPT-4 evaluation method. A comparative analysis was then performed against Arabic LLMs and state-of-the-art models, including AceGPT-13B-Chat, Jais-13B-Chat, Gemini, GPT-3.5, and GPT-4. Furthermore, to ensure the model had access to the latest information on infectious diseases by regularly updating the data without additional fine-tuning, we used the retrieval-augmented generation (RAG) method.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;InfectA-Chat demonstrated good performance in answering questions about infectious diseases by the GPT-4 evaluation method. Our comparative analysis revealed that it outperforms the AceGPT-7B-Chat and InfectA-Chat (based on AceGPT-7B) models by a margin of 43.52%. It also surpassed other Arabic LLMs such as AceGPT-13B-Chat and Jais-13B-Chat by 48.61%. Among the state-of-the-art models, InfectA-Chat achieved a leading performance of 23.78%, competing closely with the GPT-4 model. Furthermore, the RAG method in InfectA-Chat significantly improved document retrieval accuracy. Notably, RAG retrieved more accurate documents based on que","PeriodicalId":56334,"journal":{"name":"JMIR Medical Informatics","volume":"13 ","pages":"e63881"},"PeriodicalIF":3.1,"publicationDate":"2025-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11851044/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143392495","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Implementation of WHO SMART Guidelines-Digital Adaptation Kits in Pathfinder Countries in Africa: Processes and Early Lessons Learned.","authors":"Rosemary K Muliokela, Kuwani Banda, Abdulaziz Mohammed Hussen, Sarai Bvulani Malumo, Andrew Kashoka, Angel Mwiche, Innocent Chiboma, Maria Barreix, Muyereka Nyirenda, Zvanaka Sithole, Natschja Ratanaprayul, Berhanu Fikadie Endehabtu, Hanna Abayneh Telake, Adane Weldeab, William J M Probert, Ӧzge Tunçalp, Ernest Maya, Mulatu Woldetsadik, Binyam Tilahun, Chris Guure, Kafui Senya, Lale Say, Tigest Tamrat","doi":"10.2196/58858","DOIUrl":"10.2196/58858","url":null,"abstract":"<p><strong>Background: </strong>The adoption of digital systems requires processes for quality assurance and uptake of standards to achieve universal health coverage. The World Health Organization developed the Digital Adaptation Kits (DAKs) within the SMART (Standards-based, Machine-readable, Adaptive, Requirements-based, and Testable) guidelines framework to support the uptake of standards and recommendations through digital systems. DAKs are a software-neutral mechanism for translating narrative guidelines to support the design of digital systems. However, a systematic process is needed to implement and ensure the impact of DAKs in country contexts.</p><p><strong>Objective: </strong>This paper details the structured process and stepwise approach to customize the DAKs to the national program and digital context in 5 countries in Africa with diverse program guideline uptake and significant digital health investments: Ethiopia, Ghana, Malawi, Zambia, and Zimbabwe. All these countries have existing digital systems, which have the potential to be updated with the DAKs.</p><p><strong>Methods: </strong>A DAK assessment tool was developed and used to assess guideline digitization readiness and opportunities for system uptake in each country. Multistakeholder teams were established to conduct the content review and alignment of the generic DAK to national guidelines and protocols through a series of stakeholder consultations, including stakeholder orientation, content review and alignment, content validation, and software update meetings.</p><p><strong>Unlabelled: </strong>Country adaptation processes identified requirements for national-level contextualization and highlighted opportunities for refinement of DAKs. Quality assurance of the content during the content review and validation processes ensured alignment with national protocols. Adaptation processes also facilitated the adoption of the DAKs approach into national guidelines and strategic documents for sexual and reproductive health.</p><p><strong>Conclusions: </strong>Country experiences offered early insights into the opportunities and benefits of a structured approach to digitalizing primary health care services. They also highlighted how this process can be continuously refined and sustained to enhance country-level impact.</p>","PeriodicalId":56334,"journal":{"name":"JMIR Medical Informatics","volume":"13 ","pages":"e58858"},"PeriodicalIF":3.1,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11830483/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143384238","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Diagnosis of Chronic Kidney Disease Using Retinal Imaging and Urine Dipstick Data: Multimodal Deep Learning Approach.","authors":"Youngmin Bhak, Yu Ho Lee, Joonhyung Kim, Kiwon Lee, Daehwan Lee, Eun Chan Jang, Eunjeong Jang, Christopher Seungkyu Lee, Eun Seok Kang, Sehee Park, Hyun Wook Han, Sang Min Nam","doi":"10.2196/55825","DOIUrl":"10.2196/55825","url":null,"abstract":"<p><strong>Background: </strong>Chronic kidney disease (CKD) is a prevalent condition with significant global health implications. Early detection and management are critical to prevent disease progression and complications. Deep learning (DL) models using retinal images have emerged as potential noninvasive screening tools for CKD, though their performance may be limited, especially in identifying individuals with proteinuria and in specific subgroups.</p><p><strong>Objective: </strong>We aim to evaluate the efficacy of integrating retinal images and urine dipstick data into DL models for enhanced CKD diagnosis.</p><p><strong>Methods: </strong>The 3 models were developed and validated: eGFR-RIDL (estimated glomerular filtration rate-retinal image deep learning), eGFR-UDLR (logistic regression using urine dipstick data), and eGFR-MMDL (multimodal deep learning combining retinal images and urine dipstick data). All models were trained to predict an eGFR<60 mL/min/1.73 m², a key indicator of CKD, calculated using the 2009 CKD-EPI (Chronic Kidney Disease Epidemiology Collaboration) equation. This study used a multicenter dataset of participants aged 20-79 years, including a development set (65,082 people) and an external validation set (58,284 people). Wide Residual Networks were used for DL, and saliency maps were used to visualize model attention. Sensitivity analyses assessed the impact of numerical variables.</p><p><strong>Results: </strong>eGFR-MMDL outperformed eGFR-RIDL in both the test and external validation sets, with area under the curves of 0.94 versus 0.90 and 0.88 versus 0.77 (P<.001 for both, DeLong test). eGFR-UDLR outperformed eGFR-RIDL and was comparable to eGFR-MMDL, particularly in the external validation. However, in the subgroup analysis, eGFR-MMDL showed improvement across all subgroups, while eGFR-UDLR demonstrated no such gains. This suggested that the enhanced performance of eGFR-MMDL was not due to urine data alone, but rather from the synergistic integration of both retinal images and urine data. The eGFR-MMDL model demonstrated the best performance in individuals younger than 65 years or those with proteinuria. Age and proteinuria were identified as critical factors influencing model performance. Saliency maps indicated that urine data and retinal images provide complementary information, with urine offering insights into retinal abnormalities and retinal images, particularly the arcade vessels, being key for predicting kidney function.</p><p><strong>Conclusions: </strong>The MMDL model integrating retinal images and urine dipstick data show significant promise for noninvasive CKD screening, outperforming the retinal image-only model. However, routine blood tests are still recommended for individuals aged 65 years and older due to the model's limited performance in this age group.</p>","PeriodicalId":56334,"journal":{"name":"JMIR Medical Informatics","volume":"13 ","pages":"e55825"},"PeriodicalIF":3.1,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11830489/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143384235","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Development and Validation of a Machine Learning Algorithm for Predicting Diabetes Retinopathy in Patients With Type 2 Diabetes: Algorithm Development Study.","authors":"Sunyoung Kim, Jaeyu Park, Yejun Son, Hojae Lee, Selin Woo, Myeongcheol Lee, Hayeon Lee, Hyunji Sang, Dong Keon Yon, Sang Youl Rhee","doi":"10.2196/58107","DOIUrl":"10.2196/58107","url":null,"abstract":"<p><strong>Background: </strong>Diabetic retinopathy (DR) is the leading cause of preventable blindness worldwide. Machine learning (ML) systems can enhance DR in community-based screening. However, predictive power models for usability and performance are still being determined.</p><p><strong>Objective: </strong>This study used data from 3 university hospitals in South Korea to conduct a simple and accurate assessment of ML-based risk prediction for the development of DR that can be universally applied to adults with type 2 diabetes mellitus (T2DM).</p><p><strong>Methods: </strong>DR was predicted using data from 2 independent electronic medical records: a discovery cohort (one hospital, n=14,694) and a validation cohort (2 hospitals, n=1856). The primary outcome was the presence of DR at 3 years. Different ML-based models were selected through hyperparameter tuning in the discovery cohort, and the area under the receiver operating characteristic (ROC) curve was analyzed in both cohorts.</p><p><strong>Results: </strong>Among 14,694 patients screened for inclusion, 348 (2.37%) were diagnosed with DR. For DR, the extreme gradient boosting (XGBoost) system had an accuracy of 75.13% (95% CI 74.10-76.17), a sensitivity of 71.00% (95% CI 66.83-75.17), and a specificity of 75.23% (95% CI 74.16-76.31) in the original dataset. Among the validation datasets, XGBoost had an accuracy of 65.14%, a sensitivity of 64.96%, and a specificity of 65.15%. The most common feature in the XGBoost model is dyslipidemia, followed by cancer, hypertension, chronic kidney disease, neuropathy, and cardiovascular disease.</p><p><strong>Conclusions: </strong>This approach shows the potential to enhance patient outcomes by enabling timely interventions in patients with T2DM, improving our understanding of contributing factors, and reducing DR-related complications. The proposed prediction model is expected to be both competitive and cost-effective, particularly for primary care settings in South Korea.</p>","PeriodicalId":56334,"journal":{"name":"JMIR Medical Informatics","volume":"13 ","pages":"e58107"},"PeriodicalIF":3.1,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11830482/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143384233","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"An Ontology for Digital Medicine Outcomes: Development of the Digital Medicine Outcomes Value Set (DOVeS).","authors":"Benjamin Rosner, Matthew Horridge, Guillen Austria, Tiffany Lee, Andrew Auerbach","doi":"10.2196/67589","DOIUrl":"10.2196/67589","url":null,"abstract":"<p><strong>Background: </strong>Over the last 10-15 years, US health care and the practice of medicine itself have been transformed by a proliferation of digital medicine and digital therapeutic products (collectively, digital health tools [DHTs]). While a number of DHT classifications have been proposed to help organize these tools for discovery, retrieval, and comparison by health care organizations seeking to potentially implement them, none have specifically addressed that organizations considering their implementation approach the DHT discovery process with one or more specific outcomes in mind. An outcomes-based DHT ontology could therefore be valuable not only for health systems seeking to evaluate tools that influence certain outcomes, but also for regulators and vendors seeking to ascertain potential substantial equivalence to predicate devices.</p><p><strong>Objective: </strong>This study aimed to develop, with inputs from industry, health care providers, payers, regulatory bodies, and patients through the Accelerated Digital Clinical Ecosystem (ADviCE) consortium, an ontology specific to DHT outcomes, the Digital medicine Outcomes Value Set (DOVeS), and to make this ontology publicly available and free to use.</p><p><strong>Methods: </strong>From a starting point of a 4-generation-deep hierarchical taxonomy developed by ADviCE, we developed DOVeS using the Web Ontology Language through the open-source ontology editor Protégé, and data from 185 vendors who had submitted structured product information to ADviCE. We used a custom, decentralized, collaborative ontology engineering methodology, and were guided by Open Biological and Biomedical Ontologies (OBO) Foundry principles. We incorporated the Mondo Disease Ontology (MONDO) and the Ontology of Adverse Events. After development, DOVeS was field-tested between December 2022 and May 2023 with 40 additional independent vendors previously unfamiliar with ADviCE or DOVeS. As a proof of concept, we subsequently developed a prototype DHT Application Finder leveraging DOVeS to enable a user to query for DHT products based on specific outcomes of interest.</p><p><strong>Results: </strong>In its current state, DOVeS contains 42,320 and 9481 native axioms and distinct classes, respectively. These numbers are enhanced when taking into account the axioms and classes contributed by MONDO and the Ontology of Adverse Events.</p><p><strong>Conclusions: </strong>DOVeS is publicly available on BioPortal and GitHub, and has a Creative Commons license CC-BY-SA that is intended to encourage stakeholders to modify, adapt, build upon, and distribute it. While no ontology is complete, DOVeS will benefit from a strong and engaged user base to help it grow and evolve in a way that best serves DHT stakeholders and the patients they serve.</p>","PeriodicalId":56334,"journal":{"name":"JMIR Medical Informatics","volume":"13 ","pages":"e67589"},"PeriodicalIF":3.1,"publicationDate":"2025-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11843056/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143366222","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identification of Clusters in a Population With Obesity Using Machine Learning: Secondary Analysis of The Maastricht Study.","authors":"Maik Jm Beuken, Melanie Kleynen, Susy Braun, Kees Van Berkel, Carla van der Kallen, Annemarie Koster, Hans Bosma, Tos Tjm Berendschot, Alfons Jhm Houben, Nicole Dukers-Muijrers, Joop P van den Bergh, Abraham A Kroon, Iris M Kanera","doi":"10.2196/64479","DOIUrl":"10.2196/64479","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Background: &lt;/strong&gt;Modern lifestyle risk factors, like physical inactivity and poor nutrition, contribute to rising rates of obesity and chronic diseases like type 2 diabetes and heart disease. Particularly personalized interventions have been shown to be effective for long-term behavior change. Machine learning can be used to uncover insights without predefined hypotheses, revealing complex relationships and distinct population clusters. New data-driven approaches, such as the factor probabilistic distance clustering algorithm, provide opportunities to identify potentially meaningful clusters within large and complex datasets.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Objective: &lt;/strong&gt;This study aimed to identify potential clusters and relevant variables among individuals with obesity using a data-driven and hypothesis-free machine learning approach.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;We used cross-sectional data from individuals with abdominal obesity from The Maastricht Study. Data (2971 variables) included demographics, lifestyle, biomedical aspects, advanced phenotyping, and social factors (cohort 2010). The factor probabilistic distance clustering algorithm was applied in order to detect clusters within this high-dimensional data. To identify a subset of distinct, minimally redundant, predictive variables, we used the statistically equivalent signature algorithm. To describe the clusters, we applied measures of central tendency and variability, and we assessed the distinctiveness of the clusters through the emerged variables using the F test for continuous variables and the chi-square test for categorical variables at a confidence level of α=.001.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;We identified 3 distinct clusters (including 4128/9188, 44.93% of all data points) among individuals with obesity (n=4128). The most significant continuous variable for distinguishing cluster 1 (n=1458) from clusters 2 and 3 combined (n=2670) was the lower energy intake (mean 1684, SD 393 kcal/day vs mean 2358, SD 635 kcal/day; P&lt;.001). The most significant categorical variable was occupation (P&lt;.001). A significantly higher proportion (1236/1458, 84.77%) in cluster 1 did not work compared to clusters 2 and 3 combined (1486/2670, 55.66%; P&lt;.001). For cluster 2 (n=1521), the most significant continuous variable was a higher energy intake (mean 2755, SD 506.2 kcal/day vs mean 1749, SD 375 kcal/day; P&lt;.001). The most significant categorical variable was sex (P&lt;.001). A significantly higher proportion (997/1521, 65.55%) in cluster 2 were male compared to the other 2 clusters (885/2607, 33.95%; P&lt;.001). For cluster 3 (n=1149), the most significant continuous variable was overall higher cognitive functioning (mean 0.2349, SD 0.5702 vs mean -0.3088, SD 0.7212; P&lt;.001), and educational level was the most significant categorical variable (P&lt;.001). A significantly higher proportion (475/1149, 41.34%) in cluster 3 received higher vocational or university education in comparison to clusters 1","PeriodicalId":56334,"journal":{"name":"JMIR Medical Informatics","volume":"13 ","pages":"e64479"},"PeriodicalIF":3.1,"publicationDate":"2025-02-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11840370/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143190464","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}