BMC Medical Informatics and Decision Making

Background: Adverse event (AE) coding is essential for safety monitoring in oncology clinical trials, particularly in acute myeloid leukemia (AML), where intensive therapies are associated with frequent and heterogeneous toxicities requiring standardized MedDRA (Medical Dictionary for Regulatory Activities) coding. However, manual Low-Level Term (LLT) assignment remains labor-intensive, subjective, and difficult to scale. Although large language models (LLMs) have emerged as promising decision-support tools for automated coding, unguided zero-shot generation remains insufficient for reliable fine-grained MedDRA coding. Objective: To develop and evaluate a retrieval-augmented reasoning pipeline for clinically aligned LLT-level MedDRA coding of free-text adverse events from prospective AML clinical trials. Methods: We implemented a retrieval-augmented reasoning pipeline inspired by the retrieval-augmented generation (RAG) paradigm using LLaMA-3.3-70B-Instruct as the primary backbone and benchmarked the framework across multiple open instruction-tuned LLMs. Dense semantic retrieval first generated a constrained top-100 LLT candidate set for each AE, followed by structured LLM reasoning to select a single best-matching LLT and deterministic mapping to Preferred Term (PT) and System Organ Class (SOC) levels. The pipeline was evaluated retrospectively on AE datasets from three prospective AML clinical trials (MOSAIC, DELTA, and DaunoDouble) with automated LLT/PT/SOC metrics and expert-assessed Clinical Correctness Rate (CCR). Results: Clinical expert review showed high clinical acceptability of the RAG pipeline across datasets (91-97%). Under automated evaluation, the pipeline achieved LLT exact accuracy of 50-58%, PT accuracy of 78-85%, and SOC accuracy of 90-93%. Zero-shot generation and random candidate selection performed substantially worse. Semantic retrieval more often included the coder-assigned LLT among the candidate terms available to the model than retrieval based on lexical similarity. Multi-model benchmarking showed that backbone choice mainly affected LLT exact agreement, whereas PT and SOC performance remained comparatively stable. Conclusions: Retrieval-augmented reasoning supports clinically aligned MedDRA coding of free-text adverse events under realistic candidate constraints in AML clinical trials. Evaluation across three AML clinical trials showed that strict LLT-level string agreement underestimated clinical ap-propriateness, highlighting the importance of combining hierarchical evaluation metrics with clini-cal expert validation for AI-assisted MedDRA coding in hematology trials.

Background Hepatocellular carcinoma (HCC) treatment selection demands nuanced integration of heterogeneous patient data, yet prevailing predictive models rely on restricted data modalities and oversimplified therapeutic frameworks, compromising clinical translation. Objective We developed and validated a multimodal artificial intelligence framework to guide optimal treatment strategy selection across the full spectrum of HCC interventions. Methods This retrospective study comprised 1,043 HCC patients (development cohort, January 2017-December 2023) and 55 external validation patients (2023) from Wuxi Peoples Hospital. We engineered Embedding-Augmented Extra Trees (ET-Emb), a novel model fusing structured clinical variables with contextual text embeddings derived from medical histories and radiology reports. ET-Emb quantifies probabilities for five primary treatments: open/laparoscopic resection, transarterial chemoembolization, radiofrequency ablation (RFA), and chemotherapy. Model performance was rigorously assessed via 10-fold cross-validation and external validation using ROC-AUC and PR-AUC metrics. Results ET-Emb demonstrated robust performance in the development cohort (ROC-AUC: 0.84 {+/-} 0.04; PR-AUC: 0.55 {+/-} 0.06), significantly outperforming established benchmarks. This generalizability was preserved in external validation (ROC-AUC: 0.77 {+/-} 0.02; PR-AUC: 0.47 {+/-} 0.03). SHAP analysis identified textual clinical narratives and socioeconomic determinants as critical predictive drivers. Conclusions By unifying structured and unstructured data modalities, ET-Emb delivers accurate, multi-treatment strategy prediction for HCC. Its clinical validity and the demonstrated significance of textual features establish multimodal AI as an essential paradigm for simulating complex oncological decision-making, positioning ET-Emb as a transformative tool for precision HCC management.

Background: Machine learning models leveraging electronic health records (EHRs) can support earlier detection of sepsis in intensive care units (ICUs). However, their clinical utility depends on reproducibility across institutions and patient populations. Building on a published pipeline from the Children's Hospital of Philadelphia (CHOP), this study examines how a neonatal sepsis prediction framework performs and can be adapted to a range of intensive care environments, paediatric, cardiac, and neonatal, at Great Ormond Street Hospital (GOSH). Methods: We extracted de-identified ICU EHR data from GOSH and applied feature derivation, unit harmonisation, and temporal sampling to align with the CHOP dataset used by Masino et al. (2019). Seven classifiers were first evaluated using CHOP-trained weights to characterise cross-domain behaviour and then retrained on local data to assess recoverability and site-specific adaptation. Model discrimination was summarised by AUC and F1, and learning curves were used to explore sample efficiency and bias-variance dynamics. Results: Models achieved strong discrimination on the CHOP neonatal cohort but demonstrated reduced performance when transferred to the mixed GOSH ICU population, reflecting anticipated domain and population shift. Retraining on GOSH data restored discrimination (AUC range 0.69-0.86), with Gradient Boosting (AUC 0.86 vs AUC 0.87 at CHOP) and KNN (AUC 0.80 vs AUC 0.79 at CHOP) models performing comparably to their CHOP benchmarks. DeLong's test confirmed statistically significant gains across all classifiers (p < 0.001). Conclusion: ICU cohort and baseline demographic differences between CHOP and GOSH introduced domain shift that limited direct model transfer. Elements of the original preprocessing pipeline could not be reproduced, further constraining transportability. Yet, retraining on local data restored high discrimination, showing that the modelling framework remains robust when re-estimated in new settings. These results highlight local adaptation as a practical route to recover performance and support safe, generalisable deployment of clinical prediction models in mixed clinical environments.

Machine learning workflows frequently incorporate data preprocessing to enhance predictive performance. However, the need for Super Learner ensembles made up only of preprocessing-invariant tree-based algorithms remains unexplored. Using three benchmark clinical classification datasets, this study examined how preprocessing affected the Super Learner's prediction performance, learner weight distribution, and oracle behavior. The Heart Disease (207 observations), Indian Liver Patient Dataset (583 observations), and Pima Indians Diabetes (768 observations) datasets were used to create a Super Learner ensemble model that included Classification and Regression Trees (CART), Random Forest, Ranger, and Extreme Gradient Boosting (XGBoost). Models were evaluated under raw and preprocessed data conditions using repeated cross-validation. Predictive performance was assessed using the area under the receiver operating characteristic curve (AUC), Matthews correlation coefficient (MCC), and Brier score. Learner weight allocation and Oracle Gap were compared using paired Wilcoxon signed-rank tests with Benjamini-Hochberg adjustment. Preprocessing produced negligible changes in predictive performance for the Heart Disease and Pima datasets. For the ILPD dataset, preprocessing significantly improved AUC (0.746 to 0.752; adjusted p = 0.0017) and reduced the Brier score (0.177 to 0.175; adjusted p < 0.001). Learner weights remained largely stable, although Random Forest replaced Ranger as the dominant learner for the Heart Disease dataset. Oracle Gaps remained extremely small (<0.002) across all datasets and did not differ significantly between preprocessing conditions. Preprocessing provides limited benefit for Super Learner ensembles composed of preprocessing-invariant learners and does not materially alter their oracle behavior. Preprocessing decisions should therefore be guided by dataset characteristics rather than adopted as a universal modelling practice.

Acute kidney injury (AKI) is a frequent complication within intensive care units, with its sudden onset often missed. This is especially important because a timely window for intervention is required as delayed detection leads to progressively worse outcomes. Existing machine learning and deep learning models have contributed to closing this gap, but their complexity, requiring hundreds to thousands of features, and lack of generalisation pose a limitation that prevents them from being integrated into clinical workflows across different electronic health-record ecosystems. This study presents a 37-feature XGBoost model trained on the MIMIC-IV dataset with 5.4% positive cases, with hyperparameters optimised via Optuna and probabilities calibrated using isotonic regression, designed for transportability across clinical settings. Validation was conducted internally using a temporal patient-level split simulating prospective deployment, training on 2008-2016 data and testing on 2017-2022 data"External validation was performed on the eICU Collaborative Research Database, a multi-centre dataset spanning 208 US hospitals, using the trained model without retraining. SHAP TreeExplainer was used to provide feature-level explainability for individual predictions. Internal testing yielded an AUROC score of 0.794 for predicting AKI onset within a 12-24 hour window. External validation produced a 0.750 AUROC without retraining. Equitable discrimination was observed across gender, age, chronic kidney disease presence, race, and AKI stages on both datasets, with a 95% internal CI of 0.789-0.799 confirming the model's estimate stability. These results suggest that clinically useful prediction systems are achievable with substantially fewer features than current models require.

Background: The growing burden of lifestyle-related chronic diseases has increased the need for clinically interpretable decision-support tools capable of integrating artificial intelligence with evidence-based preventive nutrition. Although machine learning has shown considerable potential for health risk prediction, most existing approaches remain limited to isolated predictive models or conventional nutritional software, with little integration of multidimensional clinical assessment and personalized recommendations. Objective: To develop and internally validate NutrIA, a hybrid web-based Clinical Decision Support System (CDSS) that combines machine learning, validated clinical assessment, structured clinical reasoning and personalized nutritional recommendations for preventive medicine. Methods: NutrIA was developed using harmonized data from the National Health and Nutrition Examination Survey (NHANES, 1988 to 2018). A supervised machine learning model was trained to estimate 5-, 10- and 20-year all-cause mortality risk and subsequently integrated with an adaptive clinical questionnaire, validated screening instruments, nutritional indicators, dietary clustering, clinical phenotyping and a transparent rule-based recommendation engine within a unified web-based platform. Results: The predictive model achieved ROC-AUC values of 0.894, 0.914 and 0.923 for 5-, 10- and 20-year mortality prediction, respectively. The implemented CDSS incorporates an adaptive questionnaire (151 items), 39 validated clinical assessment instruments, 17 clinical phenotypes and 31 dietary clustering modules to generate individualized nutritional and lifestyle recommendations together with an automated clinical report. The integrated framework translates probabilistic risk estimates into clinically interpretable decision support for personalized preventive nutrition. Conclusions: NutrIA demonstrates the technical feasibility of integrating machine learning with knowledge-based clinical reasoning within a single web-based CDSS for preventive nutrition. Although external validation and prospective clinical evaluation are required before routine implementation, the proposed architecture represents a promising step toward clinically interpretable artificial intelligence for personalized nutritional care.

Background: Japan faces critical challenges in medical data interoperability, conceptualized as the "Ten Walls" obstructing the Japanese Health Data Space (JHDS) [1]. The Japanese Intensive Care Patient Database (JIPAD) - Japan's largest national ICU registry with 151 participating facilities - represents a high-quality critical care dataset that remains isolated from international data ecosystems. Objective: To develop a formal mapping of all 122 JIPAD variables to HL7 FHIR R4, characterize the nature and magnitude of semantic gaps, and assess the feasibility of JIPAD integration into the JHDS. Methods: All 122 JIPAD variables (Data Dictionary v3.7.2; Linkage Items List 20231020) were evaluated using ISO 21564 [8]-based semantic equivalence scoring across three tiers: High (direct FHIR R4 Core mapping), Partial (mapping via JP-Core Implementation Guide extensions [3]), and Low/No Equivalence (structural institutional gap). Semantically identical multi-instance fields (e.g., secondary disease codes x5) were consolidated into single mapping entries, yielding 114 mapping entries. Pseudonymization architecture was characterized from primary documentation. Results: Of 114 mapping entries representing the 122 JIPAD variables, 97 (85.1%) achieved High Equivalence via LOINC/SNOMED CT, and 12 (10.5%) achieved Partial Equivalence via JP-Core extensions, value-set translation, or FHIR R4 Core extension mechanisms - yielding a combined technical feasibility of 95.6% (109/114). Only 5 entries (4.4%) were classified as Low/No Equivalence, all attributable to Japan's proprietary disease classification system (288 adult codes; 165 pediatric codes) embedded in the DPC reimbursement framework, plus one Japan-specific procedure (PMX endotoxin adsorption) absent from international terminology systems. Variable-level mapping details are provided in Supplementary Table S1. Critically, JIPAD employs pseudonymization with record-linkage capability, enabling 99% DPC data matching - demonstrating that technical and design-level barriers to FHIR integration have already been resolved. Conclusion: JIPAD is technically and architecturally ready for FHIR integration at a 95.6% level. The remaining 4.4% barrier is exclusively institutional - rooted in MHLW policy frameworks governing the DPC disease classification system [6] - rather than technical. FHIR integration would further unlock pharmacoepidemiological and social epidemiological research currently inaccessible due to data isolation. As the sole national ICU registry providing high-acuity anchor data unavailable in general health records, JIPAD integration is essential for a clinically meaningful JHDS by 2027.

Diagnostic errors, including misdiagnoses and delayed clinical diagnoses, could affect outcomes of a significant patient population, particularly individuals presenting with rare diseases or non-specific symptoms. From rule-based diagnostic decision supporting systems (DDSS) to large language model (LLM) based tools for clinical reasoning have been developed to address these limitations. However, existing DDSS are often proprietary and difficult to integrate, and recent LLM-based tools remain hindered by operational challenges such as cost, resources constraint, and privacy concerns. Moreover, existing systems interpret electronic medical records (EMR) and generate diagnoses separately, limiting continuous evidence-based analysis and imposing repeated clinician involvement. In this paper, we present DDx-Finder, an open-source framework that leverages Model Context Protocol (MCP) servers for direct EMR and literature access, enabling prompt-driven clinical state extraction and reliable case-report re- trieval via generating searching query by LLM, while addressing limitations related to resource demands and privacy concerns. A clinical case study demonstrates the systems feasibility and its potential to provide accessible, transparent, and systematic differential diagnostic support for complex cases.

Background: Warfarin therapy requires repetitive dose adjustments based on INR (International Normalised Ratio) monitoring. We evaluated the long-term real-world performance of Forsante Warfarin Advisor (WA), a CE-marked class IIb guideline-based decision support and care automation medical device used in anticoagulation management. Methods: Retrospective real-world data from routine clinical use between 2016 and 2026 were analysed. Treatment quality was assessed using Time in Therapeutic Range (TTR). Recommendation performance was evaluated by comparing achievement of target INR after clinician acceptance or modification of Warfarin Advisor recommendations. Results: Among 1348 patients in March 2026 median TTR was 83%, compared with 70% in March 2016. Dosages congruent with Warfarin Advisor recommendations were strongly associated with achieving target INR at follow-up in INR target ranges of 2.0-3.0 and 2.5-3.5. Treatment quality remained consistently high across years of deployment. No serious device-attributable safety incidents, regulatory incident reports, or CAPA cases were identified during 12 calendar years and 82,709 patient years of routine use. Conclusions: The findings provide real-world long-term evidence that a guideline-based warfarin dosing and care automation system can support sustained high-quality anticoagulation control in routine clinical practice. The findings support the feasibility of deploying workflow-integrated execution of selected guideline-driven clinical processes, while the causal effects on clinical outcomes require prospective confirmation. Keywords: Clinical decision support systems, Guideline execution, Real-world evidence, Warfarin, Anticoagulation

Background: Public facing large language models (LLMs) are increasingly used for health guidance, including triage recommendations. We evaluated whether augmenting LLM prompts with standardized clinical concepts from the Unified Medical Language System (UMLS) could improve the safety and robustness of clinical triage recommendations. Methods: We used a publicly available dataset comprising 60 clinician-authored clinical vignettes, each represented in 16 demographic and narrative variations, yielding 960 vignette-factor combinations. Clinical entities were extracted using a two-stage pipeline combining ClinicalBERT-based named entity recognition with rule-based identification of laboratory abnormalities. Extracted entities were mapped to UMLS Concept Unique Identifiers (CUIs). Negated concepts were excluded. A confidence-weighted CUI voting classifier was trained using empirical associations between CUIs and clinician-assigned triage categories. We compared five approaches: CUI-only classification, MedGemma 27B, MedGemma 27B augmented with CUIs, GPT-4o-mini, and GPT-4o-mini augmented with CUIs. Outcomes included overall accuracy, under-triage, over-triage, emergency-case accuracy, and sensitivity to anchoring statements. Results: CUI augmentation decreased under-triage but increased over-triage in both models tested (GPT-4o-mini and MedGemma 27B). It improved high-acuity recognition while reducing recognition of low-acuity cases. CUI augmentation had mixed effects on overall triage accuracy; accuracy increased for MedGemma 27B but decreased for GPT-4o-mini. Emergency-case accuracy improved from 73.0% to 80.7% for GPT-4o-mini and from 60.5% to 68.5% for MedGemma 27B. CUI augmentation also reduced susceptibility to anchoring statements. These findings suggest that the principal value of CUI augmentation may be shifting model behavior toward safety-oriented behavior rather than uniformly improving overall accuracy. Conclusion: Ontology-grounded prompt augmentation shifted LLM triage recommendations toward greater sensitivity to high-acuity presentations and reduced overall under-triage. These safety gains were accompanied by increased over-triage and mixed effects on overall accuracy. A hybrid architecture combining LLM-based language understanding with interpretable UMLS-derived clinical concepts may improve the safety and robustness of AI-assisted triage. Further evaluation using real-world patient communications and clinical outcomes is warranted.

Extracting clinical information from Dutch free-text medical notes requires language-specific annotation resources, yet Dutch primary care lacks a reusable event-annotation framework for infections, post-acute infection syndromes (PAIS), and related symptoms. We adapted the COVID-19 Annotated Clinical Text (CACT) framework to Dutch and applied it to GP notes for PAIS event extraction. The framework has three annotation layers: a DiagnosticExpression typology covering acute infections, post-acute syndromes, and relevant comorbidities; an eleven-subtype Evidence inventory grounded in Dutch primary-care testing practice; and explicit decision rules for the SOEP structure of Dutch general practitioner (GP) notes (Subjective, Objective, Evaluation, Plan), including the distinction between clinician hedging and patient-side hypotheticals. On a 200-note pilot, span-level F1 under the Lybarger criterion reached 0.51 [95% CI: 0.47, 0.55] across six core entities; restricted to spans both annotators noticed, conditional F1 reached 0.78 [0.75, 0.80], indicating that most disagreement stems from annotation coverage rather than label assignment. The adaptation illustrates how an English event-based clinical annotation framework can be extended to a new language and clinical setting, yielding a reusable resource for Dutch clinical NLP; which steps generalise beyond this case (CACT to Dutch primary care) and which are specific to Dutch or PAIS remain to be tested.

While Directed Acyclic Graphs (DAGs) are essential for causal inference, their construction often relies on expert heuristics, which bypasses systematic evidence synthesis and creates a critical "evidence retrieval gap" in causal modeling. This study introduces EpiKG2DAG, a framework that supports evidence-anchored candidate DAG generation by transforming unstructured biomedical abstracts into structured epidemiological associations. We utilized DeepSeek-V3 to extract exposure-outcome association triplets from 189,266 abstracts and employed SapBERT for semantic normalization against UMLS concepts. The resulting Epidemiological Knowledge Graph (EpiKG) enables the automated identification of candidate confounders, mediators, and colliders based on graph-theoretic motifs and literature-derived evidence. A case study on COVID-19 and AKI demonstrates that the framework uncovers non-obvious confounders, such as air pollution, while ensuring evidence traceability. This work contributes to the field by mitigating the knowledge-acquisition bottleneck and providing a transparent, reproducible foundation for evidence-based causal modeling.

Clinical recommendations are often expressed in narrative form, which limits their direct execution, auditability, and patient-specific interpretation. This paper presents a hybrid decision-support framework that combines Decision Model and Notation (DMN), survey-weighted rule-ensemble learning, and counterfactual sensitivity analysis. The framework is evaluated using an NHANES-derived fasting cohort for classification of documented diabetes status. The full fasting analysis cohort contained 2,582 participants, and a non-diagnostic laboratory subgroup, Gate0, contained 2,111 participants. On untouched test data, the rule-ensemble model achieved ROC-AUC and PR-AUC values of 0.959 and 0.873 in the full fasting cohort and 0.861 and 0.499 in Gate0. Four clinically interpretable candidate rules were selected using validation data only. A nonnegative survey-weighted logistic model removed one redundant rule and converted the remaining three binary activations into an auditable DMN score and model-estimated probability. The final DMN achieved ROC-AUC 0.769, PR-AUC 0.153, and Brier score 0.029 in the untouched Gate0 test set. In small rule-defined test subgroups, hypothetical five-unit BMI reductions lowered mean model-estimated probability by 2.40 to 5.89 percentage points when one or more BMI thresholds were crossed. These findings characterize policy sensitivity rather than causal effects and require external validation.

Objectives Transformer models for electronic health records require converting clinical data into token sequences, however standardized tokenization and evaluation frameworks are lacking. We introduce DBToken, an open-source library, and bits-per-row (BPR), a metric for comparing tokenization strategies. Materials and Methods DBToken accepts Medical Event Data Standard (MEDS)-compatible input and supports multiple text, numeric, and temporal tokenization strategies. BPR extends the bits-per-byte metric used in language models to enable comparison across tokenization strategies. Results DBToken efficiently tokenized data across configurations. BPR identified the vocabulary size associated with the best clinical outcome performance and localized differences in numeric tokenization performance by token class. Discussion Optimal tokenization strategies for medical foundation models are a subject of active research. DBToken enables reproducible tokenization experiments, while BPR efficiently screens vocabulary sizes and numeric representations before downstream evaluation. Conclusion DBToken and the BPR metric provide open-source infrastructure for reproducible EHR tokenization and cross-strategy evaluation.

Background. Patient stratification from multi-omics and clinical data is essential for uncovering disease heterogeneity and moving toward more personalized treatment strategies. However, integrating heterogeneous data layers while identifying robust patient strata remains challenging. Methods. We introduce Reduced Fusion of Multi-Omics Stratification (RedFuMOS), a novel three-step approach for patient stratification based on mixed-type multi-omics data. RedFuMOS extends Similarity Network Fusion to accommodate mixed-type data layers and layer-specific similarity measures for data integration, includes a dimensionality reduction step to mitigate the curse of dimensionality, and performs patient stratification using density-based hierarchical clustering with HDBSCAN. It also implemented an automated optimization procedure to identify the best set of hyperparameters, minimizing the need for manual tuning. Results. RedFuMOS outperformed six state-of-the-art tools for multi-omics patient stratification in a comprehensive simulated benchmarking study, which also confirmed that, although computationally expensive, the dimensionality reduction step is crucial for achieving good stratification performance. Additionally, RedFuMOS identified two clinically relevant patient strata in a small real-world cohort of patients with Philadelphia chromosome-positive chronic myeloid leukaemia. Conclusion. RedFuMOS provides a flexible framework for integrating heterogeneous multi-omics and clinical data. RedFuMOS is available as an R package at http://github.com/delucasara/RedFuMOS.

Radiation oncology has a long history of developing in-house health information technology (HIT) tools such as quality assurance (QA) checklists, yet there is little guidance from professional bodies on how to implement these tools in complex clinical environments. Building on our previous work that used human-centered participatory co-design, the Task-User-Representation-Function (TURF) framework, and multi-method usability evaluations to design and develop an enhanced dosimetry QA checklist (DQC), this study investigated the barriers and facilitators (determinants) to implementing the enhanced DQC in a radiation oncology clinic, examined implementation strategies, proposed an implementation framework for QA checklists in radiation oncology, and assessed four implementation outcomes: acceptability, appropriateness, feasibility, and adoption. We conducted a qualitative implementation study using an abductive research approach at an academic medical center. All key stakeholders (dosimetrists, physicists, trainees, and software developers) participated in semi-structured interviews, field observations, and surveys across pre-implementation, implementation, and post-implementation phases. Data were analyzed using a hybrid inductive-deductive approach, with deductive coding guided by an adapted Consolidated Framework for Implementation Research (CFIR) mapped to the Unified Theory of Acceptance and Use of Technology and by the Expert Recommendations for Implementing Change (ERIC) compilation. We identified 4 CFIR constructs and 12 sub-constructs as barriers, with structural characteristics and planning showing the highest negative valence, and 5 CFIR constructs and 19 sub-constructs as facilitators, with relative advantage, culture, and leadership engagement showing the highest positive valence. Participants' suggestions mapped to 19 ERIC strategies in 7 clusters, and the CFIR-ERIC matching tool identified 14 evidence-based strategies in 4 clusters that informed a proposed phased implementation framework. Acceptability, appropriateness, and feasibility scores improved significantly from pre-implementation to implementation for all professional roles (p<0.05), yet adoption reached 100% only in the sixth week of implementation. These findings highlight the value of combining subjective and objective implementation outcomes and provide a practical, evidence-based framework for implementing in-house QA checklists in radiation oncology that warrants validation in diverse settings.

Large Language Models (LLMs) are increasingly used by clinicians and patients for medical queries, yet their accuracy and safety at the specialist level in hematology remain insufficiently characterised. We benchmarked ten frontier proprietary and open-weight LLMs across two generations on 1,477 board-style hematology multiple-choice questions (MCQs) derived from five educational datasets spanning nine disease areas and six clinical skill domains, including text-only and multimodal case vignettes. Claude Opus 5 had the highest mean accuracy (92.7% text, 76.9% multimodal), followed closely by Gemini-3.1 Pro (91.4% and 78.7%), Gemini-3.6 Flash (91.0% and 74.8%) and GPT-5.6 Sol (89.9% and 76.7%). Accuracy significantly correlated with model size both for text-only and multimodal MCQs. Between model generations, the largest improvements in accuracy were seen for open-weight models whereas proprietary models showed only marginal gains. In error analysis, top-performing models exhibited highly concordant failure patterns, suggesting shared limitations on challenging cases. Frontier LLMs exhibit substantial specialist hematology knowledge across diverse subspecialist domains and clinical skill sets. Yet, despite high accuracy on board-style questions in hematology, continuous expert-on-the-loop output monitoring is paramount.

Background: Sepsis is a life-threatening condition triggered by infection and associated with dysregulated immune response of the patient followed often by multiorgan dysfunction or failure. In the clinical evolution of sepsis towards organ dysfunction, early initiation of a suited therapy significantly increases patient outcomes and reduces mortality rates. Since electronic health records provide data in a machine-readable format, this process could be supported by computerized systems. Methods: We developed an interoperable, time-sensitive CDSS that able to detect systemic inflammation and the different classifications of sepsis (bacterial/viral, suspected/proven, on admission/PICU acquired) in pediatric patients based on the analysis of routine clinical data. This application is provided as part of this publication as an open demonstrator (web application), and the usability and accuracy of the CDSS is shown by a retrospective creation of sepsis outcome labels for a routine data set of 4,655 pediatric patients. As a reference standard, the patients were manually assessed by blinded clinical experts. Results: In comparison with the reference standard, the CDSS achieved sensitivity of 96.9% (95% CI: 80.9-99.6%) and specificity of 99.1% (95% CI: 95.1-99.8%). In the context of a sepsis outcome labeling for 4,655 patients, the CDSS detected 4,342 episodes of inflammation of which 1,723 were classified as sepsis. Conclusions: We demonstrated that our routine-data based CDSS is able to perform a complex sepsis detection process with high diagnostic accuracy. Such CDSS with the ability to differentiate between SIRS, sepsis on admission, suspected and proven sepsis can prospectively support clinical management, monitoring and quality management.

Purpose: Patient identity management is fundamental to healthcare information systems, as identification inconsistencies can compromise patient safety, data integrity, and clinical workflow efficiency. Reliable linkage of medical images acquired across different imaging modalities remains challenging because of variations in image appearance, acquisition geometry, and imaging characteristics. In this study, we developed an automated patient identity verification framework for multimodal medical imaging using deep metric learning and Data-Augmented Domain Adaptation (DADA). Methods: The proposed framework learned modality-invariant patient representations from labeled source-domain data while leveraging unlabeled target-domain data to mitigate cross-modality distribution shifts. Chest radiographs and computed tomography (CT) scout images obtained under routine clinical conditions were retrospectively collected and used for evaluation. Verification performance was assessed using receiver operating characteristic (ROC) analysis, with the area under the ROC curve (AUC) used as the primary performance metric. Results: The proposed framework achieved consistently high verification performance across all evaluation conditions, with AUC values ranging from 0.9997 to 0.9998. Similarity-score distributions demonstrated distinct separation between same-patient and different-patient image pairs despite substantial differences between imaging modalities. Conclusion: These findings indicate that patient-specific anatomical representations can be preserved across heterogeneous imaging domains through metric learning and domain adaptation. The proposed framework may serve as a practical infrastructure component for patient identity management, multimodal data integration, quality assurance, and patient safety applications within healthcare information systems.

Background and Objective: Early and reliable disease prediction from structured clinical data remains challenging when datasets are small, highly imbalanced, and contain limited positive disease cases. Conventional machine learning (ML) and deep learning approaches often struggle to capture clinically meaningful relationships under such low-data representation conditions due to weak statistical associations between features and prediction targets. This study proposes a clinically grounded GPT2-based table-to-text framework for disease prediction using structured healthcare datasets, motivated by the contextual reasoning capability of GPT models to better capture clinically meaningful relationships when statistical learning alone becomes insufficient due to limited data availability. Methods & Materials: Structured clinical records were transformed into physician-style textual descriptions and enriched through GPT4-generated medical paraphrasing to improve minority-class representation while preserving clinical meaning. Both the original and generated clinical texts were used to fine-tune a GPT2 model across four public healthcare datasets, including heart disease, heart failure, chronic kidney disease, and thyroid cancer recurrence. Gradient-based explainable AI analysis was additionally incorporated to identify clinically important features influencing prediction outcomes. Results: The proposed framework demonstrated consistently strong predictive performance with average precision, specificity, sensitivity, and F1-score of 0.96, 0.97, 0.96, and 0.96, respectively. The model achieved improved sensitivity, stronger generalization, and more stable predictive behavior compared with traditional ML, deep learning, transformer-based, and GAN-augmented approaches. Importantly, the framework consistently emphasized clinically meaningful variables even under severe class imbalance where conventional ML and neural network models often struggled. Conclusions: The proposed GPT2-based table-to-text framework provides a practical and clinically interpretable approach for disease prediction from limited structured healthcare data. By integrating contextual clinical reasoning with explainable prediction mechanisms, the framework demonstrates strong potential for early risk detection, transparent clinical decision support, and reliable deployment in real-world low-resource healthcare environments.