Artificial Intelligence in Medicine

Motivation: Standardized phenotypic descriptions are essential for accurate diagnosis, yet clinicians and researchers face challenges in manually extracting and mapping phenotypes from scientific literature or patient clinical records to the Human Phenotype Ontology. Recent advances in deep learning offer new opportunities for automation. We developed PhenoXtract, a novel phenotype extraction approach that combines Large Language Models and Knowledge Graph embedding. PhenoXtract is a multistep pipeline that takes clinical descriptions as input, extracts candidate phenotype entities using large language models, and maps them to terms from an enriched version of the Human Phenotype Ontology, processed as a knowledge graph. Results: Evaluation against expert-curated ground-truth datasets show a recall of 0.70 and precision of 0.85 for PhenoXtract, demonstrating concordance with manually extracted phenotypes, with a computation time of 10-20 seconds for each text analyzed. Moreover, PhenoXtract surpasses rule-based and deep learning-based state-of-the-art tools in two out of the three ground-truth datasets evaluated. These results suggest that hybrid approaches combining Large Language Models and Knowledge Graph embeddings represent a promising direction for automated clinical phenotyping at scale.

Objectives: This study investigates large language models (LLMs) for clinical entity projection across substantial textual transformation. Specifically, we evaluate whether entities annotated in Spanish prostate cancer case reports can be preserved and explicitly projected when the source narratives are transformed into hospital-style clinical progress notes. Entity projection is treated as a generation-driven task, allowing paraphrase, condensation and narrative reorganisation, providing that clinically relevant entities remain recoverable as structured annotations. Methods: A corpus of 109 Spanish prostate cancer case reports was annotated using a silver-standard pipeline combining Spanish biomedical named-entity recognition with rule-based prostate-specific antigen (PSA) and Gleason extractors. The resulting silver-standard annotations were validated on a subset of generated notes against a gold-standard consensus produced by medical experts in prostate cancer. Four LLMs were evaluated for note generation and entity projection: GPT-5.4 Nano, Qwen 3.5:35B-A3B, GLM5 and Claude Sonnet 4.6. Entity-to-Entity (E2E) generation used XML-annotated cases as RAG-supported input, whereas Text-to-Entity (T2E) generation required models to generate and annotate notes directly from plain text cases. Zero-shot and few-shot prompting were tested. Projection quality was measured using precision, recall and F1-score, and complemented by LLM-as-a-judge evaluation using Kimi K2.6. Results: E2E consistently outperformed T2E, indicating that explicit entity-enriched in- put substantially facilitates entity preservation and localisation. GLM5 achieved the best E2E zero-shot result (F1 = 0.915), followed by Claude Sonnet 4.6 (F1 = 0.896). In T2E, few-shot prompting improved performance, with Claude Sonnet 4.6 reaching the highest score (F1 =0.718). Age, Gleason, Disease, Procedure, Duration and negation-related entities were robustly projected, whereas PSA and Dose showed less stable behaviour. Conclusion: LLMs can generate clinically plausible synthetic prostate cancer evolution notes while preserving a substantial proportion of source entities, particularly when explicit semantic annotations are provided as input. However, the lower and more variable performance observed in T2E highlights the difficulty of jointly generating clinical narratives and projecting entities without source-side information, especially for numerical and measure-related entities.

Background: General purpose language models such as ChatGPT are increasingly used by physicians and triage nurses during emergency triage. A recent study reported 51.6% undertriage of emergencies when patients queried ChatGPT directly (Ramaswamy et al., 2026). DR. INFO is an agentic AI based clinical assistant that retrieves over a curated clinical knowledge base, and an MTS specific retrieval configuration is available in which the system also retrieves the Manchester Triage System (MTS) textbook at inference time. The safety of these systems as a triage adjunct against a structured framework has not been characterised. Methods: We adapted the clinical scenarios published by Ramaswamy et al. and mapped them to the Manchester Triage System, yielding 39 emergency cases covering all five MTS priority levels. Each case was evaluated in two variants, one without and one with the objective clinical data block (vital signs, examination findings, and laboratory results), and permuted across two genders, giving 156 prompts per condition. Three systems were tested with and without a misleading GP referral statement prepended as an anchoring statement, giving 312 prompts per system: DR. INFO Baseline, DR. INFO with MTS retrieval, and OpenAI GPT-5.1. The primary outcome was the undertriage rate on the ordered MTS scale, tested with Fisher's exact test. Results: GPT-5.1 undertriaged 44.2% of cases (69/156; 95% CI 36.7 to 52.1), including 75.0% of Red and 73.4% of Orange presentations. Both DR. INFO configurations undertriaged 11.5% of cases (18/156; 95% CI 7.4 to 17.5; Fisher's exact p = 1.0 x 10^-10 versus GPT-5.1). GPT-5.1 produced 6 dangerous misses (3.8%), and both DR. INFO configurations produced none (p = 0.030). When the anchoring statement was prepended, GPT-5.1 undertriaged 8 of 8 Red cases, while both DR. INFO configurations continued to undertriage none. Adding objective clinical data to the input reduced undertriage in DR. INFO with MTS retrieval from 19.2% to 3.8% (p = 0.005). DR. INFO Baseline and GPT-5.1 showed no comparable change. There was no significant effect of gender. Conclusion: On this benchmark, replacing a general purpose language model with an agentic retrieval augmented system over a curated clinical knowledge base substantially reduced the undertriage and dangerous miss rates. Adding retrieval of the Manchester Triage System textbook to the agentic system was further associated with a reduced susceptibility to the anchoring statement and with an appropriate change in the assigned MTS priority when objective clinical data became available. Of the three configurations evaluated here, only DR. INFO with MTS retrieval combined a clinically conservative assignment at first contact with appropriate updating as additional clinical information arrived.

Background: Free-text EEG reports typically lack structure, hindering scalable analysis. We evaluate a large language model (LLM) pipeline to extract structured diagnostic labels and confidence levels from these reports. Methods: We developed a hierarchical annotation schema to classify EEG reports for four specific abnormality types using a four-point confidence scale. To establish ground truth, two certified EEG technicians annotated a diverse dataset of reports authored by neurologists with distinct writing styles. We then implemented a grammar-constrained Mistral-7B pipeline, iteratively prompt-tuned on a development set to mirror these expert annotations. The pipeline's effectiveness was evaluated against the human expert benchmark using core agreement (diagnostic accuracy) and certainty-adjusted agreement (confidence alignment), with classical NLP models serving as a secondary baseline. Results: Mistral-7B significantly outperformed baselines, achieving 96% accuracy for overall abnormality detection, approaching the human benchmark of 98%. Crucially, the model successfully identified rare epileptiform abnormalities where traditional models failed and generalized robustly across distinct reporting styles. While diagnostic accuracy was high, a performance gap persisted in certainty-adjusted agreement, indicating that accurately modeling nuanced clinical confidence remains a challenge. Conclusion: LLMs can effectively automate the extraction of structured diagnostic information from EEG reports with near-human accuracy and strong generalization. While confidence calibration requires further refinement, the combination of accurate classification and explainability makes this pipeline a promising tool for standardizing clinical data at scale. Keywords: Routine Clinical Electroencephalography; Large Language Models; Clinical NLP; Confidence Assessment; Explainable AI; Neurophysiological Evaluation

Huntington's disease (HD) presents a heterogeneous neurodegenerative course, with motor, cognitive, and functional symptoms progressing differently across individuals. This atypical progression complicates the definition of discrete disease stages, hindering understanding of disease trajectories, timely pa- tient care, and therapy development. Consequently, current clinical staging systems rely heavily on clinician-defined, domain-specific criteria and fixed clinical measurement boundaries for stage assignment, reducing objectivity and often leading to overlapping clinical measurements across stages. While machine learning methods can help, existing approaches cannot fully capture complex temporal relationships within and across patients. We propose URL- STFN, a dynamic graph-based representation learning model that encodes both inter- and intra-patient temporal patterns from longitudinal clinical measures. We then evaluate disease stages formed through clustering and stability analysis of URL-STFN latent representations, and compare them with representations obtained from conventional embedding approaches. We further benchmark these clustering-based stages against states derived from conventional temporal models, including DHMM. We hypothesize that clustering URL-STFN latent representations enables identification of HD stages with reduced overlap in clinical measurements. The proposed framework is evaluated using 1,477 clinical visits from the Enroll-HD dataset, a large lon- gitudinal cohort with repeated clinical assessments. For staging, we used 44 clinical measurements spanning motor, cognitive, and functional domains. URL-STFN identifies clinically meaningful HD stages consistent with estab- lished disease progression while reducing overlap in clinical feature values compared with DHMM-derived and clinical staging approaches. These find- ings highlight the potential of a dynamic graph-based representation learning and clustering framework to support more objective, data-driven, and precise HD staging.

Objective: To construct and evaluate, in an exploratory manner, a pathophysiologic rationale link- ing biological pathways derived from the peripheral transcriptome in ischemic stroke (IS) to nursing diagnoses in the NANDA-I 2024-2026 taxonomy, while emphasizing that this association is not di- rect, deterministic, or automatically inferable from textual similarity with large language models (LLMs). Methods: A computational study was conducted using public secondary data from the Gene Ex- pression Omnibus series GSE16561, which includes 63 peripheral blood samples: 39 from indi- viduals with IS and 24 from healthy controls. The pipeline integrated transcriptomic analysis and functional enrichment, semantic mapping through ClinicalBERT embeddings, and mechanistic and clinical-conceptual judgment using Claude Sonnet 4.6 as a judge. The judgment stage was treated as the central interpretive layer, designed to mediate the transcriptome, pathophysiology, functional manifestation, and NANDA-I diagnosis. Results: The analysis identified a bimodal transcriptomic pattern, with activation of pathways re- lated to innate immunity and suppression of pathways related to adaptive immunity. Semantic map- ping generated 158 pathway-diagnosis pairs. The Spearman correlation between cosine similarity and the mechanistic score was negative and statistically significant (rho = -0.243; p = 2.09e-03), but weak in magnitude. This effect size indicates that semantic similarity explained less than 6% of the variance in mechanistic plausibility, reinforcing the insufficiency of embeddings as a stand- alone criterion. Of the 158 pairs, 14 were classified as high concordance, 8 as moderate, and 136 as divergent. Conclusion: The main value of this study lies in demonstrating that translating biological pathways into nursing diagnoses requires pathophysiologic, functional, and clinical-conceptual mediation. The prioritized pairs represent mechanistically plausible hypotheses for future research, without implying causality, direct clinical confirmation, or immediate care recommendations.

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.

Ventricular tachycardia (VT) and ventricular fibrillation (VF) are the leading electrical causes of sudden cardiac death, but automated detection is limited by strong class imbalance, where lethal arrhythmias account for fewer than 22% of ECG segments. In this setting, standard classifiers can achieve high accuracy by predicting normal rhythm in most cases while missing many lethal events, a failure mode referred to as rare-class collapse. We evaluated six imbalance-handling approaches: naive logistic regression, inverse-frequency reweighting, label-distribution-aware margin loss (LDAM), cost-sensitive training, two-stage cascade classification, and anomaly detection on 15,614 ECG segments from three PhysioNet databases (VTaC, VFDB, CUDB), with an overall normal-to-lethal ratio of 3.6:1. All methods were assessed at a fixed operating point of 95% specificity using recall, area under the precision-recall curve (AUPRC), and missed-lethal-event rate (MLER). The naive model achieved 45.1% recall (MLER = 0.549), missing 564 of 1,027 lethal events despite 84.1% accuracy. The two-stage cascade performed best, with 65.2% recall, AUPRC of 0.821, and MLER of 0.348, reducing missed events by 37% and achieving the highest decision-curve net benefit. Per-source analysis showed near-complete VF detection (recall up to 0.975) but much lower VT detection (recall 0.183), suggesting a feature-space limitation due to spectral similarity between organized VT and rapid sinus rhythm. Overall, the results show that evaluation metrics strongly influence the visibility of rare-class failure, and that cascade-based methods outperform simpler reweighting approaches for detecting lethal arrhythmias.

Objective. To evaluate whether open-weight large language models (LLMs) can accurately extract clinical findings from Finnish-language pediatric records, and whether prediction uncertainty can be used to triage cases for expert review to minimize manual work. Materials and Methods. Retrospective cohort of 97 pediatric ischaemic stroke patients (1 month - 17 years) from Helsinki University Hospital (2010 - 2023). Three open LLMs (gpt-oss-20b, DeepSeek-R1-Distill-Qwen-32B, and medgemma-27b-text-it) were prompted in English to detect four extraction targets (hemiplegia, headache, seizure, and stroke as a positive control) from each patient's full free-text record. Each combination received 15 calls (five temperatures x three repeats). Performance was benchmarked against a clinician reference (accuracy, recall, precision, F1). Shannon entropy across the 15 calls quantified within-model uncertainty; inter-model disagreement provided an ensemble signal. Patients were ranked by uncertainty for a simulated selective-review workflow. Findings were externally validated in an independent neonatal stroke cohort (n = 88). Results. Gpt-oss-20b achieved the best balance of recall (0.91 - 1.00) and precision (0.83 - 0.92), with F1 0.89 - 0.95 across non-control extraction targets. Entropy in misclassified cases was 2.4 - 3.4 times higher than in correctly classified cases. Entropy-based triage achieved complete error coverage by reviewing <10% of patients for hemiplegia (8.3%) and headache (8.2%), and 19.6% for seizure. Neonatal validation reached F1 0.95 for Apgar 1 min and binary seizure, and F1 0.87 for 4-class stroke-subtype classification. Discussion. Within-model entropy and inter-model disagreement provided complementary, calibrated signals of likely error in a non-English clinical setting. Conclusion. Open LLMs can extract clinical findings from Finnish pediatric records with accuracy comparable to published English benchmarks, and uncertainty-based triage substantially reduces required expert workload.

Connected speech is essential for everyday communication, but clinical constraints and patient fatigue limit detailed evaluation in acute stroke (<1-week post-stroke). Bedside assessments may sample discourse but rarely quantify language impairment (LI) in connected speech, leaving patient communication poorly characterized. We analyzed brief story retellings from 86 patients with left-hemisphere stroke (~4 days post-stroke; 63 classified with LI using composite clinical and naming criteria). From transcripts generated with automatic speech recognition, we derived discrete linguistic features and embeddings with Large Language Models (LLMs). An ensemble of embedding-based classifiers distinguished patients with and without LI with 90% balanced accuracy (79% sensitivity, 100% specificity), outperforming independent embedding and discrete-linguistic-based classifiers, showing distinct LLMs contributed complementary information. Adding the discrete-linguistic-based classifier to the ensemble did not improve balanced accuracy but modestly increased sensitivity at the expense of specificity. We provide proof of concept for a fast, largely automated discourse screener of acute LI.

Deep learning reads 12 lead electrocardiograms at close to expert level on public benchmarks, yet most reports give one accuracy figure for the whole test set and stop there. We trained three architectures that are standard in this field, a 1D ResNet, a convolutional network with a bidirectional LSTM, and a convolutional network with a bidirectional LSTM followed by a transformer encoder, on the PTB-XL dataset to classify the five diagnostic superclasses, and then looked at how each one performed across sex and age. On the held out fold all three reached a macro AUC near 0.92, in line with the strongest published results on this benchmark, and the simplest model, the 1D ResNet, was marginally the best at 0.9241. The averages hid a steady pattern. Every model scored lower for female patients than for male patients, and every model scored lowest for patients aged 80 and over, where the 1D ResNet fell to 0.8878 and the transformer to 0.8693. Adding complexity did not close either gap and slightly widened the gap by age. Overall accuracy on PTB-XL is close to solved for these model families, but the benefit is not shared evenly, and a single headline number hides the patients a model serves worst. We release the full stratified evaluation to support fairness aware reporting.

Background: Free-text notes in electronic health records (EHRs) contain fine-grained psychiatric information that is essential for psychiatric research and clinical care, and often absent or under-recorded in structured codes alone. Clinical natural language processing (cNLP) can support extraction of this information from EHR notes, yet Spanish-language cNLP remains under-developed. Moreover, broad evaluations comparing multiple encoder-based language models across extensive, fine-grained psychiatric concept sets remain scarce, and it remains unclear how these models compare with traditional NLP (tNLP) systems and much larger generative large language models (LLMs). In addition, cross-site performance of fine-tuned models is rarely tested, and limited annotated training data remains a major challenge, especially for rare symptoms. Objectives: We aimed to advance scalable, global psychiatric cNLP by fine-tuning multiple encoder-based models with differing architectures and pre-training strategies for detecting fine-grained psychiatric concepts in Spanish EHRs. We further evaluated the impact of augmenting the fine-tuning data with precision-weighted weak labels for less-frequent concepts, and compared the performance of the encoder-based models to that of tNLP and a fine-tuned generative LLM trained on the same data. Finally, we evaluated model cross-site generalizability on an external EHR dataset. Methods: Three encoder-based models (BETO, XLM-RoBERTa-large, and bsc-bio-ehr-es) were fine-tuned on 1,642 clinician-annotated EHR documents from Colombia to detect 110 psychiatric concepts in Spanish text. To address the limited annotated examples available for less-frequent concepts, 12,000 additional documents were weakly-labeled for less-frequent concepts using tNLP, and incorporated into the fine-tuning data with labels weighted by pattern precision. Models were compared with tNLP and a generative LLM, and evaluated on an external EHR dataset from another psychiatric hospital in Colombia. Results: Encoder model performance varied substantially, with macro-F1 ranging from 0.64 to 0.81. BETO achieved the highest macro-F1 (0.81; median F1=0.88 [IQR=0.77-0.96]). Adding precision-weighted weak labels for less-frequent concepts improved BETO's overall macro-F1 to 0.83 and increased mean F1 for the 55 augmented concepts from 0.82 to 0.86. Under matched fine-tuning conditions, fine-tuned BETO and the tNLP method were equivalent in F1, whereas the LLM significantly outperformed BETO in F1. After weak-label augmentation, BETO significantly outperformed tNLP in F1 (PFDR<.001) and narrowed the performance gap with the LLM, although equivalence was not established. Lastly, fine-tuned BETO maintained reasonably strong performance on data from an external hospital not used for model fine-tuning (out-of-domain macro-F1=0.78). Conclusions: General-purpose pre-trained encoders had strong performance for psychiatric concept extraction from Spanish EHRs. Weak-label augmentation improved BETO's performance and strengthened results relative to a tNLP baseline, while reducing, but not eliminating, the performance gap with a much larger fine-tuned generative LLM. These findings highlight the utility of these relatively lightweight models for scalable, accurate and reproducible detection of psychiatric concepts in Spanish-language EHRs.

Classification of research articles according to translational research stages enables funding bodies, academic and medical institutes, and policymakers to objectively assess the distribution of resources across the research spectrum. We aim to utilise Large Language Models (LLM) to classify medical research papers into translational research levels based on their titles and abstracts, comparing performance across a range of LLMs, multiple runs and a bag of words (BoW) baseline. We quantify the performance of open-weight LLMs against a human-labelled data set of 318 medical research papers. Using a description of translational levels, the LLMs showed good performance with an F1 score of 0.83 ahead of a baseline BoW approach of 0.68. We show that LLMs can accurately classify titles and abstracts into translational levels within a fully automated pipeline.

The choice of FHIR-to-text serialisation format significantly impacts clinical LLM quality (Kruskal-Wallis H=163.86, p<10^-33, delta=0.24 on a 5-point scale), yet remains unstudied as a clinical deployment variable. We present FHIRBench-UK, evaluating five large language models across six serialisation formats and three clinical tasks on 100 UK Core FHIR patient bundles (18,000 scored prompts across clean and perturbed cohorts). Our findings converge with independent work on open-weight models (Pator, 2026). The optimal format is context-dependent: raw_json dominates for clinical QA, hybrid_adaptive for clinical reasoning, and structured_markdown for summarisation. In 58% of model-task-complexity scenarios, raw_json is suboptimal. Model capability moderates format sensitivity: Claude Sonnet 4.5 shows 0.10-point sensitivity versus Llama 3.3's 0.39, making adaptive serialisation most valuable for budget-constrained deployments using mid-tier models. All findings replicate under clinically realistic data perturbation. The study additionally confirms a complete ranking inversion between token-level F1 and clinical quality (rho=-0.90), replicating US findings across UK Core profiles. We recommend task-aware serialisation routing as a zero-cost quality intervention for NHS FHIR-based LLM deployments.

Emerging as a significant global health challenge, Alzheimer's Disease (AD) is a progressive neurodegenerative disorder that causes memory loss and cognitive decline. Despite the ever-increasing waiting time for a specialist diagnosis, the need for a cost-effective and fast diagnostic technique is evident. This study explores the development of an explainable deep learning model to diagnose AD using only routine and low-cost clinical data, including demographic information, patient history, and results of neuropsychological tests (limited to those that can be automatically acquired). The analysis was carried out using a dataset provided by the National Alzheimer's Coordinating Center, comprising 167,364 observations and 1,024 features. The findings demonstrate diagnostic performance comparable, and slightly superior, to that of clinicians when evaluated under similar informative constraints. This study introduces two classification models to discriminate whether the presumptive etiological cause of cognitive impairment is Alzheimer's disease. The deep neural network achieved an accuracy of 90\% with an area under the receiver operating characteristic curve (ROC-AUC) of 0.96, whereas the Light Gradient Boosting Machine reached the same accuracy with a ROC-AUC of 0.97.

Self-repairs, in-utterance revisions in which a speaker abandons and reformulates their speech, are a promising interpretable marker for speech-based cognitive screening. Detecting them automatically is difficult because a self-repair is defined by its relationship to surrounding speech rather than by fixed lexical cues. On the DementiaBank ADReSS corpus, we compared the capability of generative LLMs under a five-condition prompt ablation against a fine-tuned DistilBERT token classifier at detecting self-repairs. GPT-5 performed best (test F1 = 0.73) and was largely insensitive to prompt design, whereas the LLaMA (open-weight alternative) was both weaker and far more prompt-sensitive (test F1 = 0.47). DistilBERT, nearly 100 times smaller, matched the open-weight LLM at a fraction of the computational cost. These results suggest that a locally deployable encoder, given sufficient in-domain annotation, is a more plausible route to clinical self-repair detection than scaling model size or prompt complexity.

The rapid expansion of the medical artificial intelligence (AI) literature has outpaced our ability to judge how far published models have progressed towards clinical use. We investigated whether the translational maturity of a study can be estimated automatically from its abstract. Using PubMed, we assembled a corpus of 11,024 candidate articles, reduced it to 1,816 AI-related articles by heuristic filtering, and manually double-annotated a balanced sample of 524 articles across five maturity classes (internal validation, external validation, prospective evaluation, implementation or governance, and not applicable). Abstracts were represented as TF-IDF features and classified using multinomial logistic regression with a Lasso penalty, chosen for interpretability and suitability for a small, imbalanced dataset. On a stratified held-out test set (n = 104), the model achieved 69.2% accuracy, Cohen's kappa of 0.495, macro-F1 of 0.458 and a weighted AUC of 0.820. Performance was strong for the frequent classes but poor for the rare implementation or governance class, which the model failed to recover. A balanced manual verification of 200 large-corpus predictions confirmed this pattern, with per-class precision ranging from 82.5% (internal validation) to 5.0% (implementation or governance). An interpretable, low-resource classifier can support literature mapping but requires human oversight for advanced maturity levels.

The process of medical diagnostics is challenging, especially since patients can simultaneously suffer from several diseases with similar, contradictory, or even opposing diagnoses. Statistical prediction can support physicians in this task; however, the quality of data used for predicition as well as the chosen statistical model can affect the reliability of data-driven decision support. Data quality can, in particular, be reduced by incomplete medical diagnoses, that is, the termination of the diagnostic process once a patient has tested positive for one disease that explains the symptoms. When interpreting missing diagnoses as negative, this leads to potentially false negative health data. Another source of low data quality lies in diagnoses being made through a principle of elimination, i.e., after several negative results, one opts for the seemingly last remaining possibility. This may lead to false positive health data. In our work, we investigate how such inaccurately labeled data affects the predictive ability of multi-label classification (MLC) for disease recognition. Unlike single-label classification (SLC), MLC allows the simultaneous assignment of multiple diseases to a patient and can therefore describe clinical conditions more holistically. To that end, we conduct a synthetic-data simulation study as well as a real-data case study on the example of chronic pain patients. In this regard, we compare MLC performance on accurately and inaccurately labeled data. We manipulate the data such that it corresponds to different diagnostic test sensitivities as well as to different examination sequences, thus paying special attention to resulting uncertainty within the process of medical diagnostics. Our results show that inaccurate labeling substantially decreases MLC prediction ability. Furthermore, low diagnostic test-sensitivity, the order of disease examination and covariate effects have a strong impact on MLC performance. These findings contribute to a better understanding of the interplay and impact of diagnostic procedures, data documentation and interpretation, and statistical modeling. This underlines the need for careful data collection as a basis for model development; special consideration should be given to the extensive examination of patients as well as the targeted collection of covariates. This is particularly crucial when models are transferred into everyday clinical practice.

Accurate diagnosis of Parkinson's disease (PD) remains challenging due to substantial inter-subject variability and the absence of widely accessible, objective multimodal biomarkers. Although speech and magnetoencephalography (MEG) biomarkers have individually demonstrated strong discriminative potential, their joint utilization is constrained by the absence of subject-level paired datasets - a fundamental gap that has prevented cross-modal validation at the individual level. We argue that this makes cross-cohort representation learning not merely a pragmatic workaround, but the most realistic and clinically transferable framework for multimodal PD assessment. In real-world deployment, acoustic screening and neuroimaging biomarkers are acquired through separate clinical pathways and must be integrated across heterogeneous patient populations. To address this, we propose MIRA-Net (Modality-Invariant Residual Adversarial Network). This cross-cohort representation learning framework integrates acoustic speech features from four established UCI datasets (n = 193) with beta-band MEG biomarkers from the NatMEG-PD dataset (n = 127) for PD classification. MIRA-Net employs RF-SHAP feature selection, gradient-reversal-based domain adaptation, and supervised contrastive alignment to learn participant-independent, modality-invariant embeddings. The framework is evaluated under Rest, Go, and Passive task conditions against Early Fusion, Vanilla DANN, and Supervised Contrastive Learning baselines. MIRA-Net achieves a peak accuracy of 86.23% (Go condition, Stacking classifier) with AUC values exceeding 0.88 under repeated cross-validation, alongside a sensitivity of 89.4% and specificity of 83.1%. Friedman tests confirm statistically significant performance differences among fusion strategies (p < 0.003 across all conditions). These results demonstrate that cross-cohort representation learning can extract robust disease-discriminative signatures without synchronized multimodal recordings, offering a practical pathway toward AI-assisted PD assessment in resource-constrained clinical settings.

The exhaustive identification of evidence is central to systematic reviews, but the screening of titles and abstracts remains particularly labor intensive. Priority screening, an active learning approach that ranks records by estimated relevance, has emerged as an effective strategy to reduce screening workload. Its efficiency is commonly quantified using work saved over sampling at 100% recall (WSS@100%), representing the percentage reduction in effort compared with random screening. Although modern priority-screening models achieve high efficiency on many benchmark datasets, some reviews still exhibit low WSS@100%, indicating suboptimal retrieval. Our study sought to improve the retrieval of all relevant articles in challenging datasets to ensure better generalization of priority screening. We first showed using SYNERGY benchmark datasets that while the most advanced ELAS_h3 priority screening model from state-of-the-art ASReview LAB v.2 open-source software, efficiently retrieved most relevant articles, it struggled with the rare, final ones in challenging datasets. To address this, we tested a hybrid approach entitled SimEd AI: using ELAS_h3 for early retrieval and then applying supervised fine-tuning to the biomedical transformer BioMed-RoBERTa-base with these relevant articles to enhance the detection of the remaining difficult cases. We found that fine-tuning BioMed-RoBERTa-base model with 10 late-identified relevant and 10 hard irrelevant study titles and abstracts, enabled faster retrieval of articles of interest compared to ELAS_h3 alone. This approach increased WSS@100% from 46.5% (SD0.0%) to 83.3% (SD0.4%), while adding only an average of 22 minutes of computational time for fine-tuning and inference. The SimEd AI priority screening pipeline could be valuable for situations requiring highest possible recall. It could be particularly useful in scoping reviews with broad or diverse topics where traditional priority screening methods may miss subtle relevance signals. Further work should define a data-driven stopping rule for ending screening once the fine-tuned domain-specific transformer is applied at the final stage and assess generalizability across additional challenging datasets.