JMIR Medical Informatics
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Preprints posted in the last 30 days, ranked by how well they match JMIR Medical Informatics's content profile, based on 18 papers previously published here. The average preprint has a 0.03% match score for this journal, so anything above that is already an above-average fit.
Oliveira Lemos, L.; Nunes de Sousa, L. A.; Caldeira Silva, G. J. P.; Santos Pinheiro, A.; Valentim, J.; de Oliveira Barreto, T.; Fernandes, F.; Barbalho, I.; Veras, N. V. R.; Reis, L. G. P.; Santos, J. P. Q.; Coutinho, K.; Nagem, D. A. P.; Henriques, J.; Teixeira, C.; Gil, P. J. C. d. S.; Machado, G. M.; Valentim, R.
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Background: Digital systems are central to regulating access to care in Brazil's Unified Health System (SUS), but fragmented data can hinder coordination. Objective: This study examines the database structure of SUSfacilMG and identifies modernization priorities, using CORE Saude MG as a comparative reference. Methods: We assessed metadata from 1,586 SUSfacilMG tables, focusing on naming patterns, relationships, and repeated attributes. We then compared architectural features described for CORE Saude MG. Results: Approximately 40% of the assessed tables repeated descriptive attributes, including patient identifiers, suggesting substantial duplication. Metadata alone cannot establish operational failures, security incidents, or effects on care. Conclusion: A phased review of data models, interfaces, and governance is warranted. Standardized exchange, referential integrity, and controlled access should be evaluated alongside service continuity and data quality.
Hoang, M. T.; Shaw, T.; Igasto, C.; Donnelly, C.; Shetty, A.; Pradhan, M.
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Objective: Retrospective evaluation of clinical pathway adherence using electronic medical record (eMR) data is limited by heterogeneous data structures and statistical measures that do not account for patient-specific context, care sequence, or timing. We designed a modular event-based architecture to dynamically evaluate the New South Wales Adult Sepsis Pathway over time. Method: Data from eMRs were collected from adult emergency department encounters across four hospitals between July 2022 and June 2024 and processed through three sequential layers: event-stream transformation, pathway-relevance filtering, and state-based pathway evaluation. Heterogeneous records were standardized and organized into a chronological timeline for each encounter. The framework then updated the pathway state as new clinical information became available and assessed whether recommended care was delivered within the relevant timeframe and sequence. Result: The architecture processed 451,124 encounters. This included 57,631,084 clinical events extracted and transformed into encounter-level event streams. After filtering for pathway relevance, 43,951,146 events remained (76.3%). A total of 129,907 (34.6%) encounters entered the sepsis pathway, 50,118 (38.6%) entered YELLOW state, indicating progression to suspected sepsis, and 3,349 (2.6%) encounters progressed to RED state from GREEN, indicating the initial shock. Of 50,118 encounters entering YELLOW state, 2,426 (4.8%) progressed to shock, 8,700 (17.4%) encounters were recognized with sepsis through a blood culture order, and 4,287 (8.6%) encounters were recognized with sepsis through an antibiotic order. This demonstrates the ability of the architecture to prioritize higher-acuity states during evaluation rather than going through an intermediate state. Conclusion: The architecture developed shows the feasibility of transforming fragmented routine eMR data into a reusable longitudinal representation that supports context-dependent pathway evaluation. Separating data preparation from pathway rules improves transparency, maintainability, and adaptability and provides a foundation for future interoperable, near-real-time pathway monitoring
Haug, M.; Mooses, K.; Oja, M.; Heinsar, S.; Lotman, E.-M.; Pold, M.; Pauklin, P.; Loo, L.; Ilves, P.; Ruus, T.; Grents, G.; Uuskula, A.; Arrak, M.; Reisberg, S.; Vilo, J.; Kolde, R.
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BackgroundRoutinely collected health data can reveal recorded care around diagnosis, but disease-specific curation does not scale across thousands of conditions. We scaled a previously developed automated framework that reduces heterogeneous clinical events into standardised, diagnosis-centred summaries of real-world care patterns. MethodsIn this retrospective observational study, we used EST-Health-30, a pseudonymised 30% random sample of Estonian residents with health-care records from 2012 to 2024. We constructed cohorts for ICD-10 three-character diagnostic categories using the first eligible observed diagnosis after a 3-year diagnosis-free observable lookback. For each category, we summarised recorded clinical events from a 90-day pre-index window, a 30-day post-index window, and a 365-day post-index window. An enrichment-based workflow compared earlier self-comparator periods and matched population controls, then filtered and aggregated concepts across clinical domains. Diagnosis-concept relationships were assessed by rubric-guided language-model classification, and atlas plausibility and utility by ten experts. FindingsOf 1645 observed diagnostic categories, 1080 met inclusion criteria, yielding 3240 diagnosis-window summaries across 509,856 individuals. Each summary characterised diagnosis-associated events by prevalence, enrichment, timing, co-occurrence, and variation between patient groups after reducing candidate concepts by 97-98%. Among 296,303 retained diagnosis-concept pairs, the language model classified 24% as directly related, 55% as indirectly related, and 21% as noisy. Experts rated the atlas highly for generating research questions (median 6{middle dot}5 of 7 [IQR 6-7]), providing information difficult to obtain conventionally (6 [5-7]), and supporting observational study design (5{middle dot}5 [5-6]). InterpretationThe atlas makes multidimensional diagnosis-centred patterns in longitudinal health records inspectable at population scale in order to support clinical orientation, hypothesis generation, and observational study planning. Outputs represent recorded care rather than individual patient trajectories or causal effects. FundingEstonian Research Council; European Union; Estonian Ministry of Education and Research; Innovative Medicines Initiative 2 Joint Undertaking; EFPIA. Research in contextO_ST_ABSEvidence before this studyC_ST_ABSWe searched PubMed and medRxiv from database inception to Aug, 2026, without language restrictions, using terms for electronic health records, real-world data, disease trajectories, treatment and care pathways, treatment patterns, clinical-event analysis, OMOP, and population-scale atlases. We also examined relevant reviews and reference lists. Previous population-scale studies have mapped disease trajectories, treatment pathways, or care intensity, generally focusing on diagnoses alone, prespecified events, selected disease cohorts, or a single summary measure of care. OMOP-based treatment-pattern studies have likewise concentrated on specific disease groups. We found no previous population-scale resource that automatically reduced multidomain clinical events surrounding an index diagnosis across more than 1000 diagnostic categories while retaining prevalence, enrichment, timing, co-occurrence, and patient-level heterogeneity. Added value of this studyWe applied a previously clinically benchmarked concept-reduction workflow to longitudinal OMOP-mapped health data across 1080 ICD-10 diagnostic categories and three observation windows, producing 3240 diagnosis-window summaries from 509,856 individuals. The workflow reduced candidate clinical concepts by 97-98% and generated compact summaries spanning diagnoses, procedures, medications, measurements, observations, visits, and deaths. The resulting interactive atlas combines concept prevalence and enrichment with timing, co-occurrence, and exploratory patient clustering. An internal formative expert evaluation supported its use for generating research questions and planning observational studies. Implications of all the available evidenceAutomated reduction of high-dimensional health-record data can provide a scalable starting point for clinical orientation, hypothesis generation, and observational study design without requiring a separately curated event set for every disease. Applying the same workflow to other OMOP databases could enable direct comparison of diagnosis-centred treatment and care patterns between regions and health systems, while helping distinguish differences in clinical practice from differences in data capture. The atlas is exploratory and should not be interpreted as evidence of causal effects, guideline adherence, or individual patient trajectories.
Asiaee, A.; Aryan, K.
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Background. Research data enclaves such as the All of Us Research Program do not allow participant-level data, or models fitted to them, to leave, which makes it hard to deliver case-finding models, which flag patients with possibly uncoded conditions for clinician review, to patients and clinicians. Objectives. We describe and technically evaluate a system that fits models outside an enclave from released summary counts and delivers them through standard health information technology interfaces. Methods. We exported dissemination-compliant summary counts from the All of Us Researcher Workbench and, outside the enclave, fitted versioned models for Long COVID, chronic fatigue, fibromyalgia, endometriosis, Lyme disease, lupus, migraine, depression, and anxiety. A model contract (a model file and a written specification), a Python reference implementation, and synthetic Fast Healthcare Interoperability Resources (FHIR) test patients define the expected outputs. One JavaScript scorer runs in a patient demonstration, a SMART on FHIR clinician application, and a CDS Hooks service. An atlas displays aggregate results. We evaluated the system on synthetic records with automated tests, cross-implementation output comparison, launches through the public SMART sandbox, and a counterexample review of the scoring and display rules. Results. The deployed Long COVID model had an area under the receiver operating characteristic curve of 0.67 in a random validation split. The eight self-report models reached 0.61 to 0.82 in identifying self-reporters without a code. The JavaScript scorer reproduced all 162 reference outputs exactly, and all 437 automated tests passed. A counterexample review found 5 classes of failure, including scoring ineligible patients and treating unavailable data as absent, all fixed and added as tests. Conclusions. Models fitted from released summary counts can be delivered through FHIR, SMART on FHIR, and CDS Hooks with reproducible scoring on synthetic records. Real-record interoperability, usability, and prospective clinical performance remain to be evaluated.
Vogel, M.; Reuter, N.; Ruf, S.; Noori, A.; Madrid, J.; Balicer, R.; Witzenrath, M.; Sander, L. E.; Groeschel, M. I.
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Clinical AI deployment rarely reaches the bedside because both workstation integration and governed backend provisioning are challenging. We introduce a workflow that allows rapid and governed access to AI functionalities through a browser interface or API, enabling privacy-compliant data analysis. The complex setup for compliant healthcare applications such as a secure backend, private AI model endpoint, and managed identity configuration is encoded by itself, a concept known as Infrastructure as Code (IaC). IaC is a concept in which networks, access rights, and service endpoints are written down as machine-readable files that can be reviewed once and executed identically in any institution. Here, we apply this concept to a clinical use case. The process of deploying a governed, private clinical AI solution using this approach in a tertiary care center took, on average, 310.3 +- 196.6 seconds (n=25, mean +- SD). To further demonstrate the clinical value of this approach, we developed and deployed an LLM-based inconsistency checker, which identifies textual inconsistency in medical documents. When evaluating the tool on a set of 1,347 physician-approved clinical documents, the tool flagged a clinically severe inconsistency in 105 clinical documents (7.8%, approximately 1 in 13). In a severity-stratified physician audit, 149 of 150 sampled findings were confirmed (population-weighted PPV 98.2%; CI 94.8 - 100.0). In summary, we present the application of IaC frameworks to a healthcare use case and demonstrate that clinically useful AI applications can be deployed to physician workstations in hospital-governed cloud environments within a few minutes.
Kroll, L. E.; Seidel, A.; Schuster, J.; Steiger, E.; Schoepke, T.; von Stillfried, D.; BeST Study Group,
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As digital self-triage becomes more widely used, quality assurance requires evaluation of both emergency recognition and overall agreement with clinical judgement, including how these outcomes differ across generations of large language models. The Benchmark Self-Triage (BeST) project intends to provide a framework to compare systems for digital self-triage against a medical 'gold standard' in Germany. In a first step developing the method and demonstrating its potential we developed a representative set of patient vignettes and compared two regulated medical-device triage systems, SmED and Infermedica, with five structured OpenAI configurations spanning multiple model generations: gpt-4.1, gpt-5.4, gpt-5.6-luna, gpt-5.6-sol, and gpt-6-astra. An LLM-based patient actor covered 480 physician-curated vignettes derived from German routine triage data. A pool of seven physicians provided preliminary reference classifications and consensus for 480 vignettes. Recommendations were mapped to three urgency categories 'emergency', 'acute', and 'not urgent' and evaluated using winsorised weights derived from routine triage frequencies. Weighted emergency sensitivity ranged from 51.3% (95% CI 35.5-66.3%) for gpt-4.1 to 99.9% (99.7-100.0%) for gpt-6-astra. Weighted exact three-category agreement (accuracy) ranged from 54.4% to 68.8%; gpt-4.1 achieved the highest agreement despite the lowest emergency sensitivity. No system performed best across all urgency categories. The later-generation OpenAI configurations showed a more precautionary triage profile resembling SmED, with higher sensitivity for emergency cases; gpt-6-astra showed the strongest shift. This cross-sectional comparison across model generations suggests a shift towards more precautionary triage behaviour, without establishing a longitudinal improvement in accuracy. These findings highlight the limitations of overall agreement for evaluating self-triage and support category-specific assessment. Broader expert consensus and evaluation, as well as further steps to reduce dependence on SmED-derived source data, are needed and planned before drawing conclusions about clinical safety.
Mirza, L.; Bendayan, R.; Stewart, R.; Davis, K. A. S.
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Awareness of comorbidities in people with dementia is vital context for dementia research and clinical management. Natural Language Processing (NLP) applied to free text in the electronic health record (EHR) may help ascertain comorbidity presence. Our aim was to assess the validity of the MedCAT Comorbidity NLP app in a cohort of people with dementia. We used text from the EHR of South London and Maudsley NHS Mental Health Trust via Clinical Records Interactive Search (CRIS), linked to structured data from local primary care (Lambeth DataNet) and hospital admission data in a cohort of 3,543 people with dementia. We evaluated MedCAT Comorbidity, examining internal validity via manual review of text and external validity by cross-validation against linked primary care and hospital data; and comparison of the predictive value of comorbidity measures for mortality. Internal precision was highest for atrial fibrillation (100%) and lowest for diabetes (78%). Cross-validation with linked data varied substantially across conditions, with precision from 96% to 59% and recall 77% to 4%. The median number of comorbidities identified was two using any single source, or three when combined. MedCAT Comorbidity demonstrated predictive ability for mortality (HR 1.11 per condition), although the model fit was better using comorbidity from hospital admission data. In people with dementia, the MedCAT Comorbidity app showed high precision for most conditions during internal validation. The variability of precision and recall on external validity assessment partly reflects incomplete documentation. Results from the MedCAT comorbidity app can assist researchers in understanding comorbidity of cohorts, particularly when primary care or hospital data is not available. Our findings highlight the need to develop quality assurance protocols that include internal and external validity checks before deploying general data extraction apps for specific clinical subpopulations.
Castano-Villegas, N.; Monsalve, K.; Villa, M. C.; Quiros Gomez, O. I.; Velasquez, L.; Zea, J.
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Conversational systems based on large language models may support point-of-care evidence retrieval, but most evaluations use static benchmarks and few involve practicing physicians in low- and middle-income settings. We assessed the validity of answers produced by physicians using an evidence-traceable conversational system versus usual information-search practice, alongside response efficiency and acceptability. Physicians in Latin America were randomly assigned to answer four simulated clinical cases, four open-ended questions each, with system support or usual search practice. Two blinded specialists per area scored each response with a six-dimension rubric. The main outcome was the composite validity score aggregated per physician, analyzed with logistic regression adjusted for academic degree. Of 202 physicians who began, 71 completed and were analyzed, 26 supported and 45 using usual practice, yielding 1,136 responses. Physicians using the system scored higher, with medians of 2.83 versus 2.46 (difference 0.38; 95% CI 0.17 to 0.54; P < .001). In the adjusted model they were more likely to meet the validity threshold (odds ratio 3.61; 95% CI 1.16 to 11.17; P = .026). In the adjusted models the association held for the four criteria with the higher interrater agreement, and did not reach significance for accuracy alone. Response time and self-reported searches did not differ, though uneven missingness makes that comparison uninformative. Acceptability among supported physicians was high (mean total score 2.92 of 3). An evaluator outside the organization repeated the accuracy-only analysis, which showed no significant difference; the composite was designated the main outcome after that replication, so the three specifications are reported side by side. The analyzed sample comprises volunteers who completed the exercise, so the findings are exploratory.
Tran, M.; Pei, D.
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The Elixhauser comorbidity measures are among the most widely used risk adjusters in administrative health data. Their reference implementation, published by the Agency for Healthcare Research and Quality (AHRQ) as SAS programs, has eleven annual releases in two families, one screening pre-existing conditions on the present-on-admission (POA) indicator and the earlier one on Medicare Severity Diagnosis-Related Group, and no implementation of every release existed outside SAS. We developed `ecsr10`, an open-source R package covering all eleven releases of both families, with a browser-based application over the same functions, and validated it against AHRQ's own SAS programs over 40,027,114 value-level comparisons with zero disagreements. Two existing open-source reimplementations scored on the same dataset showed reproducible defects. We then used the package to quantify two choices AHRQ's software leaves to the analyst and studies seldom report, the release and the handling of diagnoses not present on admission, on the Texas Inpatient Public Use Data File, 2016 Q1-2019 Q4 (8,585,244 adult discharges from 726 hospitals), scoring one predefined cohort under every release and pre-existing-condition setting. POA handling dominated: disabling POA changed the comorbidity profile of 56.7% of admissions, and a POA-naive mortality index scored higher on discrimination (area under the curve 0.807 versus 0.789; difference 0.0183, 95% confidence interval 0.0161-0.0204) by counting in-hospital complications as pre-existing disease. POA reporting was bimodal across hospitals, so pooled hospital comparisons on such a file partly compare documentation practice. Because the cohort predates every release compared, the release contrast is a lower bound: the release chosen between v2022.1 and v2026.1 changed at least one comorbidity flag for 0.0036% of admissions, yet a single revision of ten mortality weights changed the comorbidity index for 42.4% of them. An exactly validated implementation makes such choices measurable; release, POA handling and the implementation used should be reported as study characteristics.
Li, Y.; Zhou, H.; Yeh, F.-Y.; Sun, Z.; Zheng, J.; Alzaidi, S.; Guan, H.; Li, J.; Seger, D. L.; Wang, L.; Li, M.; Li, X.; Chen, T.; Plasek, J. M.; Li, H.; Jiang, A.; Hong, P.; Li, F.; Zhang, W.; Cui, L.; Bates, D. W.; Zhou, L.; He, Y.; Tao, C.
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Biomedical artificial intelligence (AI) increasingly relies on heterogeneous data sources, yet differences in data structure, terminology, evidence quality, and provenance complicate their integration into reliable knowledge resources. Here, we develop an evidence-aware framework for processing and integrating heterogeneous pharmacovigilance data from FDA Adverse Event Reporting System (FAERS) reports, biomedical literature, clinical trials, and electronic health records in Mass General Brigham. The framework combines large language model (LLM)-based information extraction, ontology-driven semantic normalization, cross-source evidence assessment, statistical and machine learning-based prioritization, and ingredient-based adverse drug event (ADE) relationship inference to transform heterogeneous evidence into a structured and evidence-based knowledge resource. The constructed knowledge system contains 11,588 drug nodes, 44,843 ingredient nodes, 3,275 ADE nodes, 993 indication nodes, and more than 2.47 million relationships, with each drug-ADE relationship assigned a confidence score. We further developed a drug-level web interface for accessing the knowledge resource and validated its utility in downstream AI tasks. Specifically, incorporating the developed knowledge resource improved the comprehensiveness, relevance, and overall quality of LLM-based drug-specific ADE synthesis and improved the precision and F1 score of clinical ADE relation extraction. These results demonstrate that AI-assisted processing combined with evidence-aware curation can transform heterogeneous biomedical evidence into reusable, AI-ready knowledge with explicit provenance and evidence strength information. The framework provides a general strategy for integrating heterogeneous biomedical data to support reproducible knowledge construction and downstream biomedical AI applications.
Garcia-Agundez, A.; Zhou, S.; Pourian, J.; Blebea, C.; Daneshpajouhnejad, P.; Dente, E.; Shi, K.; Pollet, S.; Xia, F.; Shi, X.; Thombley, R.; Fenton, C.; Murray, S. G.; Adler-Milstein, J.; Schmajuk, G.; Feng, J.; Yazdany, J.
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Objective: To develop and evaluate a framework for characterizing clinician editing of Artificial Intelligence (AI)-generated[KS1.1] documentation and assess its feasibility for health system-level monitoring of AI scribes. Materials and Methods: We analyzed outpatient encounters in which an AI scribe was used at a single academic health system, examining the History of Present Illness (HPI) and Assessment and Plan (A&P) sections of notes. We characterized edits on three dimensions[KS2.1][AG2.2]: lexical edit intensity based on Levenshtein distance, embedding edit intensity BERT[KS3.1]Score, and clinical edit intensity based on removed and added UMLS[KS4.1][AG4.2] concepts.[KS5.1][AG5.2] We analyzed the Positive Predictive Value (PPV) of clinical edit intensity as a measure of clinically meaningful editing using clinicians as the gold standard, examined correlations among dimensions, and designed exponentially weighted moving-average control charts to monitor longitudinal changes in clinician editing behavior.[KS6.1][AG6.2] Results: 268,379 encounters were included (267,654 HPI, 267,594 A&P). Clinical edit intensity [≥]1 had an 88.9% PPV for clinically meaningful editing. Lexical and embedding edit intensity were highly correlated (Spearman {rho} 0.95), while clinical edit intensity was less strongly correlated with both ({rho} 0.77-0.81). Longitudinal monitoring detected changes coinciding with system-wide rollout.[KS7.1][AG7.2] Discussion:[KS8.1][AG8.2] Clinicians edited A&Ps more heavily than HPIs, potentially reflecting greater attention to content involving clinical decision-making. Over one-third of sections involved clinical concept changes, and clinical edit intensity identified clinically meaningful edits while providing information complementary to lexical editing measures. Conclusion: Clinician editing can be characterized at scale using complementary editing dimensions, providing a scalable signal for post-deployment surveillance of the human-AI documentation process.
Tang, Z.
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Objective Specialty referral packets often arrive by fax and clinicians must manually read and organize a large amount of disparate information to affect continuity of care. Commercial large language models (LLMs) can organize packet information, but protected health information (PHI) must be secured. We evaluated whether an open-weight pipeline running entirely on one consumer graphics card can accurately extract clinical information from faxed referral packets. Materials and Methods We generated 200 synthetic colorectal cancer referral packets from simulated patient records, rendered them as faxes without a text layer. A local pipeline transcribed each packet with an optical character recognition model (OvisOCR2) and extracted structured data with an open-weight LLM (Qwen3.8 27B). Twenty outcomes spanning patient identifiers, laboratory results, dates, diagnoses, procedures, medications, imaging, and event chronology were scored against ground truth on 140 validation packets. Results Laboratory values were extracted exactly in 98.9% of 7879 instances, dates in 99.7%, diagnoses in 100%, and procedures in 92.9%. Timeline recall was 96.7% and precision 99.4%. Weighted accuracy was 0.990 (95% CI 0.987 - 0.992). None of 11,993 extracted facts were fabricated. Median processing time was 90 seconds per packet. Conclusion An open-weight pipeline on consumer hardware accurately extracted multi-domain clinical information from synthetic faxed referrals.
Lee, F. G.; Choudhary, A.; Li-Han, L. Y.; Varghese, C.; Larson, E. L.; Perry, W. R. G.; Bancos, I.; Foster, T. R.; McKenzie, T. J.; Salehinejad, H.; Thiels, C. A.
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Context Current guidelines for primary aldosteronism (PA) recommend screening all patients with hypertension. Given low screening rates, an automated artificial intelligence (AI)-based risk-stratified approach may facilitate guideline implementation. Objective To develop an AI-based prescreening tool using electronic health record (EHR) data to identify at-risk patients. Design Model development retrospective cohort study. Ensemble architecture using eXtreme Gradient Boosting, random forest, and extremely randomized trees was trained on EHR data (1986-2025) and evaluated on a test set of patients with hypertension. Setting Single institution system spanning community clinics and tertiary/quaternary centers reported via Mayo Clinic Platform. Patients Adults with hypertension, International Classification of Disease (ICD) diagnosis of PA, or had plasma renin/aldosterone testing. Main Outcome Measures Predicting PA diagnosis (disease) or negative workup (control) using age, sex, ICD diagnoses, vitals, labs, and medications by area under receiver operating characteristic (AUROC), estimated calibration error (ECE), and specificity. Results Of 22,264 patients (1,833 disease and 20,431 controls), median time from initial encounter to screening was 5.0 years (IQR 0.5-12.6). The model demonstrated AUROC 0.709 (95% CI 0.688-0.730) with ECE 0.037. At a 0.5 cut-off threshold, the model had high specificity (71.6%) and low false positivity (28.4%). In a test cohort of 1,279,455 adults with hypertension, the model identified 5,295 (0.4%) for first-pass screening. Conclusions A high-specificity model can provide a pre-screening PA pathway using routine EHR data to identify and prioritize patients for PA screening. This AI-based approach can risk-stratify patients, guide sequencing of testing/referrals, and pragmatically facilitate adoption of current guidelines into practice.
Chen, Y.; Sharma, A.; Yang, Q.; Chen, Y.; Yin, R.
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Metabolic dysfunction-associated steatotic liver disease (MASLD) is highly prevalent among individuals with type 2 diabetes (T2D), yet accurate identification from electronic health records (EHRs) remains challenging because clinically relevant information is fragmented across structured data and unstructured clinical documentation. We developed a rule-based computable phenotype (CP) framework that integrates structured EHRs with clinical notes for scalable MASLD identification in patients with T2D. The framework comprises five complementary CP algorithms derived from validated fibrosis indices and liver injury biomarkers, together with a lightweight natural language processing module that identifies MASLD-related evidence using keyword matching, contextual filtering, and negation detection. The proposed framework was systematically evaluated across multiple threshold settings, with additional validation through age- and sex-stratified analyses and manual chart review. The findings demonstrate that integrating structured and unstructured EHR data provides an accurate and scalable framework for real-world MASLD phenotyping and offers a practical strategy for developing CPs for other chronic diseases.
Wang, X.; Wang, L.; Wen, A.; Li, R.; Lu, S.; Hu, Y.; Li, X.; Lyu, H.; Liu, H.
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De-identifying temporal protected health information (PHI) is challenging because temporal expressions appear in diverse formats and must be transformed while preserving clinically meaningful timelines. This study proposes and evaluates an LLM-based framework for temporal PHI de-identification in real-world clinical notes. Using 1,148 notes from 30 sarcoma patients (28,431 annotated temporal entities), we evaluated multiple modern LLMs for temporal entity extraction and surrogate generation. Proprietary models achieved strong extraction performance, with GPT-4o achieving the best overall results. Most models preserved temporal formatting (>99%), but surrogate generation remained challenging. GPT-5.4 achieved the highest shift correctness (90.2% on a shared-entity subset) and the lowest order violations. Error analysis revealed systematic shift deviations ({+/-}1, {+/-}30/31, {+/-}365 days), highlighting persistent limitations in LLM temporal reasoning. These findings suggest that reliable temporal de-identification will require hybrid or multi-agent approaches beyond standalone LLMs.
Pozza, M.; Navarin, N.; Gabrielli, S.
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Background: Hospital readmission is a common and costly outcome in patients with chronic obstructive pulmonary disease (COPD). Multimodal deep learning models combining structured electronic health record (EHR) data with physiological, imaging, and textual data have been proposed to improve its prediction, but whether such fusion outperforms EHR data alone, once temporal-leakage safeguards are applied, remains unclear. Methods: Using a stratified MIMIC-IV cohort of COPD patients enriched to about 50% readmission (natural prevalence 18.1%; n=1,279; 895/192/192 training/validation/test), we predicted 30-day, all-cause readmission from four frozen, pre-trained encoders (electrocardiogram, chest radiograph, clinical notes, structured EHR). We audited and corrected temporal leakage in the admission-linkage pipeline of each modality, then compared three fusion architectures (naive concatenation, scalar gated fusion, EHR-anchored residual fusion) against unimodal baselines and an EHR-alone reference, using bootstrap significance testing, a missingness stress test, and calibration analysis with and without post-hoc recalibration. Results: The audit corrected three previously undetected temporal-alignment issues, affecting 5-9% of patients for clinical notes, 29-43% for chest radiographs, and 53-58% for ECG. After correction, every modality except EHR showed near-chance discrimination alone (ROC-AUC 0.46-0.53), confirmed with a non-linear adapter probe. No fusion architecture significantly outperformed the EHR-alone baseline (ROC-AUC 0.63); removing auxiliary modalities improved rather than degraded fusion performance under stress testing. The raw Brier score was lower for all three fusion architectures than for EHR-alone (about 0.24 versus 0.32), but this reflected overconfidence of the EHR-alone probe (calibration slope 0.12); after logistic recalibration fitted on the validation set, Brier scores were indistinguishable (EHR-alone 0.239; fusion 0.240-0.244; all paired bootstrap 95% CIs included zero). Conclusions: Structured EHR data alone matched the discrimination and, after recalibration, the calibration of more complex multimodal fusion for 30-day COPD readmission prediction. These findings highlight the importance of rigorous temporal-leakage auditing in multimodal clinical prediction research and suggest that reformulating this task around temporal proximity to the outcome, rather than refining the fusion mechanism further, may be more productive for future work.
Wright, A.; Liu, S.; Wright, A. P.
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Objective: To compare the accuracy, cost, and speed of a low-cost, non-generative structured-judgment model and four general-purpose large language models (LLMs) for extracting smoking status, pack-years, and quit date from clinical notes to support lung cancer screening (LCS) clinical decision support (CDS). Materials and Methods: We built a synthetic, shareable benchmark of 3,000 outpatient notes in three conditions: 1,000 template-generated notes, 1,000 realistic, ``messy'' notes written by an LLM from structured facts, and 1,000 ``messy'' notes that required complex arithmetic to determine pack-years and quit dates. Ground truth reference labels were programmatically generated before each note was created. We compared TypeSafe Jev 1.13 with Claude Haiku 4.5, Claude Sonnet 5, GPT-6 Luna and GPT-6 Sol, each using an identical structured output schema. We determined United States Preventive Services Task Force (USPSTF) 2021 and American Cancer Society (ACS) 2023 eligibility from each system's output in code. Results: Jev made the correct eligibility decision for 99.1%, 99.9%, and 94.4% of notes in the three conditions, compared with 97.8%, 98.4%, and 98.1% for Haiku, 100.0%, 99.6%, and 99.8% for Sonnet, 99.7%, 98.8%, and 98.5% for Luna, and 100.0%, 99.8%, and 99.6% for Sol. In the complex condition, Jev produced 27 false positive and 14 false negative screening flags per 1,000 notes, the most of any system. Luna cost $0.12 to $0.21 per 1,000 notes and Jev $0.61 to $0.64, compared with $2.44 to $4.22 for Sol, $3.37 to $4.43 for Haiku, and $3.76 to $6.61 for Sonnet. Jev was the fastest system (median 0.45 to 1.21 seconds per note, compared with 1.71 to 3.50 seconds for the others). Discussion: All models tested had high accuracy. The structured-judgment model had the lowest latency, which could allow for synchronous use in clinical decision support systems rather than batched, cached invocation. The cost of the structured-judgment model was low, but the newest cost-efficient LLM, Luna, was less expensive and more accurate on the complex notes, though its latency was higher. Accuracy, latency, and cost are all moving quickly as new models are released. Conclusion: Fast, low-cost language models could make real-time, note-based CDS practical, and current models are highly accurate. Prices and capabilities are changing rapidly, so continuous benchmarking and system updates are essential.
Seifaddini, M.; Beheshti, M.; Steffens, J.; Carnagey, D.; Esebua, M.; Wakefield, M.; Zachary, I.
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Cancer registries are essential for population-level surveillance, epidemiologic research, and public health planning, but their accuracy depends on human review of key variables documented in unstructured clinical text. This is time-consuming, and current quality assurance (QA) typically relies on reviewing fewer than 10% of records at random, which can miss facility- or time-specific errors. We developed a large language model (LLM)-based framework for targeted cancer registry QA. The framework uses LLMs to extract biomarker values from clinical text, compares them with registry entries, and flags disagreements for expert review. Six open-source LLMs were benchmarked locally in a privacy-preserving environment, and the best model per site and report type was applied to breast and prostate cancer, two of the most common cancers in the United States. For the four breast cancer biomarkers ER, PR, HER2, and Ki-67, the disagreement rate against quality-assured registry values in 1,852 breast cancer cases was lowest for ER at 1.67% and highest for Ki-67 at 9.18%. In 920 prostate cancer cases, the disagreement rate with the deployed models stayed below 8% for every categorical Gleason variable, while the exact-value PSA metric reached 17.28%. PSA therefore generated the largest volume of candidate discrepancies, though individual PSA flags require more corroboration than categorical flags. Applied to a full year of records (11,740 breast and 6,792 prostate cases), the framework flagged disagreements and assigned each a probable cause, grounded in NAACCR coding rules, to prioritize expert review. Extracted values are linked to their supporting text, and model, prompt, and pipeline versions are logged for reproducibility. By directing review toward records most likely to contain discrepancies, the framework offers an efficient, auditable alternative to random QA sampling for cancer registries.
DesRoches, C.; Norris, A.; Barr, J.; Vaughan, W.; Ruparel, R.; Liu, Y.; Thompson, M.; Stevens, J.
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The explosive growth of ambient AI scribes in healthcare has focused almost exclusively on relieving clinician documentation burdens and enhancing clinician efficiency and reducing burnout. While most research has focused on the clinician experience, these same types of tools, such as a patient held AI Personal Health Assistant, can be put in the hands of patients to facilitate communication with healthcare providers, to provide greater autonomy and activation for patients in managing their own healthcare, and to facilitate the task of receiving and retaining complex new information. However, to ensure these tools serve as more than just administrative aids, we partnered with a large technology company to conceptually codesign how such a tool might be studied in real world settings in a way that reflected outcomes of greatest importance to patients and families. We used the Nominal Group Technique and engaged thirty three patients and caregivers and ten multidisciplinary clinicians in structured virtual sessions to identify the outcomes on which subsequent studies should hinge. Our findings reveal a significant misalignment between current industry trends and patient priorities. While the market emphasizes the scribe function for billing, stakeholders overwhelmingly prioritized the AIPHAs role in longitudinal care management and post visit coordination. The most critical outcome identified was the impact on communication and respect, suggesting that patients view AI as a mechanism to improve the human to human dynamic and ensure a shared understanding of the care plan. Our findings further highlighted that the primary hurdle for the use of patient held AI is not technical utility but clinician trust and the need for formal consent processes. Importantly, as this technology is new and integration into the clinical experience is still being explored, patients cannot assume they will have access to the transcript of their own encounter when that record is created and held by the health system. This gap highlights the potential value of a patient held tool, preserving discussions from their visit and follow up steps in clearer detail than they may receive in their clinical note or traditional visit summary. From a system perspective, this transition requires a strategic shift from measuring workflow focused efficiency to measuring patient side advocacy and engagement. By centering the evaluation of AI on these patient defined metrics and fundamentally designing subsequent AI investigations using a partnership model, health systems can move beyond simple automation toward a model of care delivery that empowers patients to navigate complex clinical journeys with greater autonomy and clarity.
Oded, S.; Shahar, Y.; Shalom, E.; Bashkin, A.; Saiegh, L.; Cantrell, D.; Wirsansky, I.; Badarne, M.; Barash, I.; Cahn, A.; Hochberg, I.
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Objective: To measure adherence to a national inpatient hyperglycemia guideline at the level of its individual recommendations across a hospital network, to determine whether it changed after the guideline was issued, and to identify which recommendations track subsequent outcomes. Materials and Methods: Retrospective multicenter study of 48,354 admissions among 29,577 adults with diabetes or inpatient hyperglycemia at six Israeli general hospitals, August 2022 to December 2025. Each of 14 recommendations was formalized as a quality-assessment temporal pattern over knowledge-based temporal abstractions of the record, scored wherever it applied. Pre-post adherence was compared by Welch t-test with false discovery rate correction. Associations with 10 complications were estimated by bias-reduced logistic regression over 24-, 48-, and 72-hour windows, and by inverse probability of treatment weighting contrasting above- with at-or-below-median adherence. Results: Adherence ranged from near-universal admission and medication-management actions to substantial gaps in insulin management (means, 0.15-0.28). Overall adherence rose modestly after issue (0.682 to 0.703, P < .001), with marked inter-hospital heterogeneity. After weighting, above-median adherence carried 44% lower odds of 30-day mortality (odds ratio [OR], 0.557; 95% CI, 0.514-0.603), 82% lower odds of hyperglycemia (OR, 0.175) and 52% lower odds of severe hyperglycemia (OR, 0.485), against 20% higher odds of hypoglycemia (OR, 1.204). Discussion: The least-implemented recommendations were largely those whose adherence tracked outcomes: repeated insulin decisions spread across a stay, rather than discrete actions on admission. Conclusion: Guideline adherence can be assessed automatically and per-recommendation at national scale, identifying where fuller implementation would most plausibly matter. Keywords: inpatient diabetes; clinical guideline adherence; quality assessment; temporal abstraction; electronic health records; propensity score; causal inference