Medical Diagnosis

Headache is the most common neurological disorder in children and substantially affects quality of life. We investigated whether resting-state functional MRI (rs-fMRI) can support pediatric headache classification using machine learning. We encoded rs-fMRI data using NeuroSTORM, a recent foundation model, and fine-tuned it to distinguish healthy controls from children with headache and subsequently classify headache subtypes. We compared NeuroSTORM with a standard neuroscience approach using functional-connectivity (FC) matrices derived from brain activity as predictors. Using 189 rs-fMRI scans from 110 individuals collected across two visits (prevalence of any headache: 74%), NeuroSTORM achieved an area under the receiver operating characteristic curve (AUROC) of 0.82 (95% CI, 0.82-0.82) and an area under the precision-recall curve (AUPRC) of 0.93 (95% CI, 0.93-0.94) for discriminating headache from non-headache. In contrast, models trained on FC matrices showed lower performance (AUROC, 0.67 [95% CI, 0.67-0.67]; AUPRC, 0.85 [95% CI, 0.85-0.85]). In multiclass classification of healthy controls, chronic migraine, and non-chronic headaches (e.g., post-viral headache, new daily persistent headache, post-traumatic headache), NeuroSTORM achieved a macro-AUROC of 0.69 (95% CI, 0.68-0.69). Results suggest that the approach can distinguish chronic migraine but has difficulty differentiating other headache subtypes from chronic migraine. Overall, under limited-data conditions, NeuroSTORM appears to capture latent rs-fMRI representations that transfer to headache-related tasks without relying on FC features. These findings provide proof of concept for fMRI-based prediction of pediatric headache and highlight potential future utility for subtype identification and individualized treatment strategies.

Multiple sclerosis (MS) is diagnosed through clinical assessment, magnetic resonance imaging, laboratory evidence when appropriate, and exclusion of better explanations. Blood RNA expression data may contain disease associated immune signal, but a blood RNA classifier cannot be treated as a replacement for clinical diagnosis. This paper presents MS-MLB (Multiple Sclerosis Machine Learning Benchmark), a reproducible open benchmark for machine learning based MS research classification from whole blood RNA expression data. MS-MLB uses the public GSE17048 cohort, converts it into an MS versus healthy control task, and evaluates multiple algorithms under a shared, leakage controlled pipeline that a researcher can rerun without reconfiguring the evaluation. The evaluation includes nested cross-validation, an untouched stratified holdout set, bootstrap confidence intervals, ROC and precision recall analysis, calibration measurement, and an exploratory MS Research Score. In the final benchmark summary, Gradient Boosting ranked first by MS Research Score on the holdout set, with an MS Research Score of 93.83, AUC-ROC of 0.989, sensitivity of 0.950, specificity of 0.778, $F_{1}$ score of 0.927, and Brier score of 0.050. Prior studies have applied machine learning to MS blood transcriptomic data, including PBMC stage classification and whole blood diagnostic signature modeling. The contribution here is different and narrower. To our knowledge, MS-MLB is the first open benchmark focused on MS versus healthy control classification from GSE17048 whole blood RNA expression data with a documented external model submission pathway built into the framework. The score is intended for research comparison only and has not been clinically validated. The benchmark is accessible here: https://github.com/duckyquang/MS-MLB.

Human-interpretable computer-aided diagnosis is crucial for clinical decision making. Concept-based models excel by providing transparent reasoning and enabling post-hoc, clinician-in-the-loop interventions. However, their rigid dataset-specific adaptation inherently restricts cross-site generalization. Applying them across diverse modalities, such as dermoscopic and clinical photographs, is challenging due to heterogeneous concept taxonomies varying in availability, granularity, and semantics across cohorts. Consequently, adapting Foundation Vision-Language Models (FVLMs) demands costly label engineering and repeated post-training. Existing intervention mechanisms remain rigidly tied to predefined concepts, lacking adaptability and hindering scalable dermatology CAD deployment. To address these bottlenecks, we propose UniCon, an open-linguistic unified concept learning framework for multimodal interpretable vision-language diagnosis. UniCon resolves these challenges through three contributions: (1) A shared semantic representation space via a unified concept prototype codebook, seamlessly coordinating heterogeneous concept systems across modalities without dataset-specific retraining. (2) Open-linguistic based multi-faceted semantic specifications to overcome sparse textual label limitations, improving boundary sensitivity in uncertain clinical contexts. (3) A robust, cross-site adjustable intervention interface powered by reliability-gated bottleneck aggregation, enabling consistent reasoning and transferable clinician corrections. Extensive experiments demonstrate that beyond securing top-tier diagnostic accuracy, UniCon successfully bridges disparate clinical taxonomies, unlocking unprecedented cross-site intervention capabilities. Code is available at https://github.com/wuchengyu123/UniCon.

Breast core needle biopsy (CNB) is central to breast cancer diagnosis yet remains challenging because limited tissue sampling, lesion heterogeneity, and subtle morphologic overlap can obscure subtype distinctions. We developed CorePath, a breast-specialized multimodal pathology foundation model fine-tuned from PRISM using 7901 paired CNB whole-slide images and diagnostic reports from two centers. Evaluated across six CNB cohorts and two public breast pathology benchmarks without task-specific retraining, CorePath consistently outperformed PRISM across cancer detection, invasion assessment, and histological subtyping. It achieved weighted area under the receiver operating characteristic curves (AUCs) of 0.9526-0.9735 for five-class CNB histological subtyping across private centers. On public benchmarks, CorePath outperformed leading pathology foundation models, achieving the highest weighted AUCs of 0.7780 for BCNB invasive carcinoma subtyping, 0.8178 for BRACS lesion stratification, and 0.8252 for BRACS fine-grained classification. In report generation, CorePath reduced the overall non-breast hallucinations from 30.1% to 2.8%, demonstrating improved domain fidelity after breast-specific adaptation. CorePath-CRG further combined conformal filtering of subtype and binary cancer status predictions with Learn-Then-Test-based threshold calibration to support selective narrative release, diagnostic fallback, and deferral. CorePath-CRG achieved zero non-breast hallucinations among released outputs and showed the strongest overall performance in pathologist-validated LLM-based Evaluation Scores and quantitative report-generation metrics across most centers. These results demonstrate that domain-specialized foundation models with statistical risk control offer a promising approach for accurate breast CNB diagnosis and reliable report generation.

Clinical diagnosis at hospital admission must be made rapidly from limited, incomplete evidence. Existing diagnosis-prediction benchmarks are poorly suited to this setting: they restrict prediction to closed code sets, exclude free-text notes, and supervise with discharge diagnoses that incorporate the full inpatient course. We introduce EarlyDx, a large-scale benchmark for open-ended early diagnosis, built from 154,834 emergency department encounters in MIMIC-IV. Each encounter is restricted to records available at admission time $t_0$ and supervised by the diagnoses recorded during the ED encounter rather than at discharge. An LLM auditor further verifies every free-text label as supported, partially supported, or unsupported by that evidence; the primary evaluation scores only fully supported labels. Under a semantic LLM-as-judge protocol, no evaluated system --- frontier general, medical-specialized, or in-domain post-trained --- synthesizes admission-time evidence reliably. Zero-shot models score largely by extraction, recovering only 3-31% of diagnoses that must be inferred rather than read from the record; post-training raises inference-dependent recall to 56%, but a sizeable margin remains, and on time-critical conditions no system attains a clinician's balance of sensitivity and precision. We release the full construction and evaluation pipeline at here.

Deep learning has shown promise for automated tongue diagnosis in traditional Chinese medicine (TCM), yet the design space remains underexplored. We conducted a systematic ablation study spanning 20+ model versions under rigorous 5-fold cross-validation on TongueDx2 (5,109 images, 976 expert-annotated) and a merged dataset of 11,101 samples. We compared six backbone architectures, four loss functions, five augmentation strategies, and six training strategies. The best 976-sample model achieved weighted-F1 of 0.6625 using ConvNeXt-Tiny with restrained augmentation and weak-group ensemble, while the best 11,101-sample model reached weighted-F1 of 0.7761. Six key design principles emerged: (1) ConvNeXt-Tiny offers optimal parameter efficiency; (2) BCE substantially outperforms Asymmetric Loss (+2.7%); (3) restrained color augmentation is critical; (4) weak-group ensemble replacement (+2.1%) outperforms probability averaging; (5) data scaling yielded +20.6% improvement; (6) expanding from 13 to 45 label dimensions caused catastrophic collapse (0.78 to 0.22). These principles are generalizable to multi-label medical image classification with class imbalance.

Acne vulgaris affects most adolescents and many adults. Accurate severity grading guides treatment, monitoring, and clinical trial endpoints, but manual assessment using the Investigator's Global Assessment or Hayashi criteria is limited by inter-rater variability and inconsistent imaging conditions. We developed a four-class acne severity classifier based on the Hayashi criteria using transfer learning with an ImageNet-pretrained EfficientNet-B0 model. The model was fine-tuned on the public ACNE04 dataset of 2,983 labeled images using AdamW optimization, geometric and photometric augmentation, and checkpoint selection based on validation macro-F1. On a held-out stratified 15 percent test set, the classifier achieved 93.5 percent accuracy and 94.4 percent macro-F1, with per-class F1 scores from 0.92 to 0.97. Eighty-three percent of errors occurred between adjacent grades. Quadratic-weighted Cohen's kappa was 0.956, with a 95 percent confidence interval of 0.935 to 0.973. Bootstrap confidence intervals indicated stable performance. Grad-CAM visualizations from the final convolutional block focused on clinically relevant facial regions, including the forehead, cheeks, and chin. The complete pipeline is provided as functionally equivalent open-source implementations in Python using PyTorch and timm, and in MATLAB R2026a. The software includes a clinician-facing inference interface and a fallback backbone option that supports operation without specialized pretrained-weight packages. These results show that lightweight transfer learning can provide accurate, balanced, and interpretable acne severity grading while offering a reproducible cross-platform reference for future prospective and device-stratified clinical validation.

Multimodal behavioral analysis offers a scalable approach to assessing depression, anxiety, and stress, yet generic fusion models often ignore the psychometric structure of questionnaire labels. In DASS-21, risk labels are derived from ordered symptom items through fixed item-to-subscale mappings. We propose \textbf{DynaBridge}, a dynamic summary-guided cross-task multimodal framework for DASS-structured mental health assessment. DynaBridge encodes acoustic, visual, and textual cues across multiple sessions and augments them with frozen-LLM-generated DASS-aware summaries as participant-level semantic evidence. It predicts ordinal item distributions, reconstructs depression, anxiety, and stress risk evidence from item-level soft scores, and fuses this evidence with direct multimodal risk predictions. A confidence-aware refinement strategy further incorporates high-confidence semantic cues conservatively. On the official AdoDAS validation split, DynaBridge outperforms the official baseline and representative multimodal methods, achieving 0.5012 mean F1 for D/A/S risk prediction and 0.3216 mean QWK for DASS-21 item prediction. These results show the value of bridging multimodal cues, semantic summaries, and DASS-21 psychometric structure.

Although artificial intelligence (AI) has shown promising performance in several medical tasks, accurate dementia etiology diagnosis with AI remains challenging due to complex overlapping symptoms among diseases. Scaling up the dataset size by combining the cross-center samples may bring a gain in the pursuit of performance, while the inherent data heterogeneity across centers or populations induces the conflict. Conventional multi-task learning paradigms offer a promising framework; however, they fail to consider critical meta information (e.g., site-specific acquisition and modality availability) to combat the heterogeneity. To address this challenge, we propose a Collaborative Meta Knowledge Enhancement (COME) framework for dementia etiology diagnosis, which injects multi-center acquisition semantics, source identifiers, and modality indicators as heterogeneity-aware embeddings into a unified Transformer architecture for scale-up training, enabling explicit modeling of heterogeneity. Besides, a trust-region constrained optimization scheme is designed to regularize the model from spurious correlations during training through a reference model. Across seven independent cohorts, our method achieves state-of-the-art in-domain performance with a mean macro-averaged AUC of 85.62% and a 4.29-point gain over the strongest baseline, while maintaining superior out-of-domain generalization under both cross-center and cross-sequence evaluations. Extensive validation also confirms the alignment between model predictions and established biomarkers (amyloid, tau) and clinical severity, highlighting the potential of COME to enable robust and interpretable dementia diagnostics in real-world settings.

Medical LLMs are often evaluated by whether they select the correct diagnosis, but diagnostic accuracy alone does not show whether the model used the case evidence appropriately. We present a behavioral audit of evidence use in medical diagnosis. For each case, we decompose patient information into evidence units, score candidate diagnoses under controlled evidence subsets, and mine low-order interactions in diagnostic margins. Because medical evidence is diagnosis-relative, the audit separates interaction discovery from failure assignment: large or negative interactions can reflect plausible differential diagnosis, while suspicious interactions require robustness checks and clinical review. We evaluate five open-weight LLMs on DDXPlus, CupCase, and MedCase. Across datasets, faithful support and differential conflict or cancellation account for most interaction strength, showing that many evidence interactions are clinically plausible rather than failures. In a DDXPlus-focused blinded five-reviewer 130-item enriched review sample, invalid or shortcut-like cases concentrate in negated or absent findings and clinically local evidence. These results show that accuracy can hide candidate evidence-use failures and motivate role-aware audits for medical LLM evaluation.

Aims: Cardiovascular magnetic resonance (CMR) imaging enables non-invasive assessment of myocardial structure, function, and pathology, but requires substantial experience in interpretation of CMR images that could be supported by artificial intelligence (AI)-based models. However, use of AI models for enhanced CMR reading is limited by labor-intensive data curation, suboptimal model performance, and unclear implementation pathways. Methods and results: We developed an automated data curation pipeline for CMR-based cardiovascular disease (CVD) diagnosis, integrating open-source locally-run large language models (LLMs) to extract diagnostic labels from narrative CMR reports and preprocessing multimodal imaging data, including cine and late-gadolinium-enhancement (LGE) CMR sequences. Three vision foundation models (DINO, VST, UMedPT) were fine-tuned across these modalities in a two-stage approach. The dataset comprised hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), ischemic cardiomyopathy (ICM), cardiac amyloidosis (CA), and normal controls (NOR). A total of 988 curated cases were randomly divided into 742 for training and 246 for validation. Fine-tuned AI-models achieved high discriminative diagnostic performance on an independent test set comprising 1067 patients , with individual AUC-ROC values of up to 0.937 for the correct diagnosis of HCM and 0.945 for cardiac amyloidosis. Ensemble strategies combining multiple models and modalities further improved AI-based diagnostic accuracy and robustness, achieving the highest overall diagnostic performance for HCM (AUC=0.959, CI [0.936-0.978]), CA (AUC=0.966, CI [0.939-0.986]), NOR (AUC=0.872, CI [0.852-0.894]), DCM (AUC=0.848, CI [0.808-0.885]) and ICM (AUC=0.840, CI [0.809-0.868]). All training and inference code, along with the trained model weights, are publicly available on https://github.com/sinaamirrajab/CMR_CVD.

Polycystic Ovarian Syndrome (PCOS) is a widespread hormone problem for women of childbearing age. Women with PCOS may not ovulate; they might have high levels of androgens and have many small cysts on the ovaries. It can cause missed or irregular menstrual periods, excess hair growth, acne, infertility, and weight gain. Machine Learning (ML) can effectively diagnose this disease at an earlier stage as tons of medical data are available now. Traditional approaches to detect PCOS encompass a combination of clinical evaluation, medical history assessment, physical examination, and laboratory tests. These approaches aim to identify the characteristic symptoms and hormonal imbalances associated with PCOS. Physical examination requires good resources and costs time and money. In recent times, data-driven techniques have substantially advanced disease prediction within the medical field. We aim to utilize ML approaches, incorporating unique feature selection algorithms, to predict PCOS. This paper introduces a data-driven approach to PCOS diagnosis, combining Feature Engineering and ML. Several feature selection approaches have been considered to select sets of features for training the ML model, including CatBoost, Extreme Gradient Boosting (XGBoost), Light Gradient Boosting Machine (LGBM), AdaBoost, Random Forest (RF). Results demonstrate that AdaBoost, with ten features selected by RF Feature Importance and Highest Correlation (HC), provides the highest test accuracy.

Clinical notes contain many of the signs and symptoms that bring patients to care, yet this information rarely reaches structured fields. Existing extraction approaches either rely on context-insensitive rules that generate false positives or on supervised models that require substantial fine-tuning. We present Pythia, a multi-agent system that autonomously writes and optimizes extraction prompts for clinical concepts without manual prompt engineering or fine-tuning. Running on a locally hosted open-weights model, Pythia keeps clinical notes on local infrastructure and selects prompts using development-set sensitivity and specificity. We compared Pythia with a curated lexicon across 72 signs and symptoms from 400 clinical notes representing 387 patients. Development (n=300) and validation (n=100) sets were partitioned independently for each concept. Pythia achieved mean sensitivity of 0.76 and specificity of 0.95, compared with 0.82 and 0.76 for the lexicon, and matched or exceeded the lexicon on both metrics for 20 of 62 directly comparable concepts. For 14 concepts where the lexicon labeled every note positive, Pythia recovered mean specificity of 0.97 by requiring a present-tense, patient-attributed finding rather than any textual mention of a term. Specificity transferred from development to validation with minimal degradation across prevalences, whereas sensitivity transfer weakened below 5% prevalence, reaching a mean gap of 0.25 below 2% prevalence. A BERT classifier fine-tuned per concept on the same development set achieved mean sensitivity of 0.23 and collapsed to zero sensitivity for concepts below roughly 5% prevalence. These findings suggest that autonomous, fine-tuning-free prompt optimization can produce symptom extraction prompts that generalize effectively from development to validation while remaining deployable on local infrastructure.

Early screening of chronic kidney disease (CKD) is essential for preventing irreversible progression; however, many machine learning (ML)-based screening methods remain difficult to deploy in community and resource-limited screening settings due to their reliance on large labeled datasets, resource-intensive pathology tests, or high-dimensional clinical features, and limited robustness to population and distributional shifts. This study examines the feasibility of using large language models (LLMs) for early-stage CKD screening in a zero-shot setting, without dataset-specific training. We propose a feature-guided zero-shot framework that evaluates LLM performance using a selected set of clinically meaningful, readily available community-based features, rather than exhaustive clinical inputs. Feature selection was guided by ML-based analysis to identify a compact, clinically relevant subset of variables. Tabular patient records were subsequently serialized into text using standardized prompt templates to enable zero-shot inference. The zero-shot performance of four LLMs (LLaMA-3, Qwen-3, Mistral, and GPT-4o-mini) was evaluated using both the full feature set and the selected subset. Generalizability was assessed across three heterogeneous CKD datasets spanning three countries. Across models and datasets, the selected feature set yielded consistent and statistically significant improvements in balanced accuracy and probability estimates, achieving performance levels suitable for screening purposes. These findings suggest that LLMs can support clinically meaningful, training-free CKD screening using minimal community-accessible patient features, offering a practical complement to conventional ML methods in real-world screening contexts.

Cardiac amyloidosis (CA) is increasingly recognized but remains substantially underdiagnosed, because its clinical and imaging phenotype overlaps with more common cardiomyopathies. Definitive subtype assignment and management further require integration of multimodal evidence to distinguish transthyretin from light chain disease. Machine learning and deep learning have been applied across the diagnostic and management pathway. These applications span ECG, echocardiography, and health record-based case finding, as well as CMR and nuclear interpretation, including SPECT/CT biomarker quantification, prognostic modeling, and treatment response assessment. This narrative review synthesizes these studies by clinical tasks, namely screening, detection, quantification, prognosis, and treatment response monitoring, rather than by input modality. This task-based organization clarifies why apparently similar AI models require different cohorts, reference standards, evaluation metrics, and implementation thresholds. The evidence reveals a maturity gradient. Binary detection and AI assisted quantification on bone scintigraphy and SPECT/CT are closest to clinical translation. Detection is supported by large externally validated cohorts, and quantification by interpretable, outcome linked measurement of myocardial tracer burden. By contrast, subtype aware classification, prognostic risk stratification, and treatment response monitoring remain at an early stage. These tasks are limited by small cohorts, enriched retrospective designs, heterogeneous labels, incomplete external validation, and uncertain calibration in realistic prevalence settings. Across tasks, high discrimination alone is insufficient.

Diagnostic error is a major threat to patient safety, yet current large language model (LLM) systems often treat diagnosis as a one-shot prediction task, lacking safeguards against missed high-risk alternatives or rigorous verification of their reasoning. Here, we present AegisDx, a safety-oriented framework for hypothetico-deductive clinical reasoning. AegisDx coordinates specialized LLM components through role-specific contracts, structured intermediate outputs, evidence-retrieval interfaces, and verification gates to generate broad differential diagnoses, enforce explicit screening for dangerous "must-not-miss" conditions, verify reasoning against grounded medical evidence, and structure actionable next steps. We evaluated AegisDx across three layers. On literature-derived case reports from NEJM and JAMA, with GPT-oss-120B as the shared backbone, Top-3 diagnostic accuracy was 59.9% versus 52.1% for the standalone LLM on JAMA cases and 62.7% versus 51.4% on NEJM cases. On cases from Annals of Emergency Medicine, Top-3 accuracy was 85.7% versus 68.6%; against physician-consensus must-not-miss diagnosis sets, AegisDx captured at least one such condition among its top three diagnoses in 78.0% of cases versus 52.0%. In a blinded physician evaluation of 43 real-world emergency department notes from the Yale New Haven Health System compared against GPT-5, AegisDx improved the physician-rated composite safety score from 4.31 to 4.55 on a 5-point scale (adjusted p = 2.1x10^-4), with qualitative gains in must-not-miss identification and reasoning safety. Our findings suggest that engineering diagnostic AI as a safety-oriented reasoning framework, rather than optimizing raw predictive accuracy alone, can provide a safer, more transparent, and clinically meaningful layer of bedside decision support for acute care workflows.

Squint and cataract are major ocular disorders that majorly affect visual perception and interaction capability. This paper proposes a real-time video-based automated detection system for squint and cataract detection based on computer vision and image processing methods. The proposed system uses a media-pipe face-mesh (a 478-point facial landmark detection model) to extract geometric ocular features for multi-class squint classification. Simultaneously, The presence and severity cataract is estimated through grayscale intensity and histogram-based lens opacity analysis. The system records short video sequences with standard laptop or mobile cameras, which can be deployed at low costs and on a large scale. The experimental performance has shown great accuracy in the detection of squint (98.39%) and classification of cataract (96.90%). Besides automatic ocular analysis, the proposed framework is also made accessible for visual impairment inference which will be integrated with future adaptive user interface and Web accessibility systems for people with visual impairment.

Functional brain networks exhibit a hierarchical organization across ROI, community, and whole-brain levels, supporting local processing, inter-community coordination, and global integration. Recent studies have demonstrated that brain community-aware modeling is beneficial for both diagnosis and biomarker identification of brain networks. However, existing brain graph modeling methods often struggle to model ROI-community interactions, thereby failing to fully exploit the hierarchy across ROI, community, and whole-brain network levels. To address this issue, inspired by deep hyperbolic learning in modeling hierarchical structures, we propose a novel framework, termed Hyperbolic Learning on Brain Graphs (HLBG), for brain network analysis. The core idea of HLBG is to exploit the inherent hierarchical geometry of hyperbolic space to model the hierarchical relationships among ROIs, functional communities, and the whole-brain network, thereby learning hierarchy-aware and highly discriminative representations for brain network data. Specifically, HLBG first projects representations from ROIs, communities, and the whole-brain network into Lorentzian hyperbolic space. Then, the multi-level hierarchy is imposed via two geometric entailment constraints. In addition, we introduce a new Graph-aware Mamba (GaMamba) model, which incorporates topology-derived structural prompts into Mamba to capture long-range dependencies while preserving graph topological information. Experiments on ABIDE-I and REST-MDD demonstrate that HLBG outperforms state-of-the-art methods and identifies disorder-relevant functional biomarkers.

Lumbar spine degeneration is a major contributor to chronic low back pain and is routinely assessed on MRI using ordinal grading systems, e.g. normal, mild, moderate, severe. Consequently, most approaches to train models to grade these MRIs formulate grading as a multi-class classification problem, treating ordinal grades as categorical, ignoring differences in misclassification severity, and imposing hard decision boundaries on a continuous disease process. This work explores modeling spinal degeneration as a continuous severity ranking problem. We introduce SpineRankNet, a framework that learns scalar severity scores from lumbar spinal MRI, and compare it against multi-class classification and ordinal regression. Using multiple degeneration measures from the Genodisc dataset, we show that a model trained using a ranking loss to produce a continuous score enables fine-grained ordering of MRI scans. Furthermore, the ordinal grading classes can be recovered from the score with comparable accuracy to those from a model trained directly for classification. The score learned by ranking even improves discrimination between more distant classes. Source code is available at https://github.com/spinetools/spineranknet.

Glaucoma is a leading cause of irreversible blindness worldwide, yet most automated diagnosis systems rely on opaque deep-learning models that offer little clinical interpretability. We present GlaKG, a biomarker-centric fundus knowledge graph that integrates structural biomarkers, clinically grounded rules, and image features to produce traceable reasoning for glaucoma diagnosis and risk stratification. GlaKG encodes six entity types (Fundus Image, Optic Disc, Neural Rim, Pathology, Diagnosis, Risk Level), eight relation types, and 11 clinically validated rules into a unified graph, so that every prediction is accompanied by an explicit reasoning chain linking biomarker evidence to activated clinical rules. To keep knowledge-based reasoning strictly separate from label information, we adopt a post-processing fusion framework that combines ResNet50 image embeddings with a normalized KG reasoning-chain score via a tunable weight alpha, with all fitting confined to the training split. On a publicly available, AI-annotated fundus dataset, GlaKG reaches F1 = 0.9953 for binary glaucoma classification and 0.930 accuracy with 0.922 weighted F1 for four-class risk stratification; we report openly that the dataset's biomarker annotations are highly label-correlated, and therefore frame these figures as an upper bound attainable with clean structured biomarkers rather than as leakage-free image-only performance. Feature-importance analysis shows KG-derived and biomarker features contributing near-equally (51.1% vs. 48.9%), and the reasoning chain flags borderline cases by exposing low chain scores rather than failing silently. GlaKG's central contribution is therefore a clinically auditable reasoning framework that complements raw predictive performance by explicitly exposing the biomarker evidence and rule activations behind each decision.

Recent reasoning-centric Large Language Models (LLMs) have made significant strides, yet they predominantly operate on a passive-inference pattern that assumes complete information. In contrast, real-world clinical intelligence is inherently an iterative investigative process requiring strategic evidence acquisition. To bridge this gap, we formalize medical diagnosis as an Iterative Evidence-Seeking Task. We leverage Reinforcement Learning with Verifiable Rewards (RLVR) to elicit intrinsic reasoning within a closed-loop environment, guided by a novel suite of rewards that enforce diagnostic precision and examination consistency. To facilitate this, we introduce the Retrieval-Augmented Generation-based Examination Simulator (RAGES), a high-fidelity clinical oracle that provides realistic, knowledge-grounded follow-up evidence. Empirical results across diverse datasets demonstrate that our framework enables LLMs to transition from passive responders to autonomous assistants. Notably, our model demonstrates comparable performance to larger and reasoning-enhanced baselines, while RAGES proves superior to vanilla LLMs in generating biologically plausible clinical feedback.

Effective brain disease diagnosis requires the synergy of brain connectivity patterns and high-level semantic knowledge. Existing methods, however, largely treat semantics from large language models (LLMs) as auxiliary features or supervision, limiting their direct role in decision-making and constraining classification stability and robustness. To overcome this, we propose a semantic-aligned brain network framework that actively integrates LLM-derived semantics into the prediction process. Specifically, ROI-level semantics are first incorporated via global self-attention to enrich node representations and provide whole-brain context. Multi-scale hypergraphs are then constructed to explicitly model functional subnetworks and multi-ROI interactions, addressing the locality limitations of traditional GNNs and capturing high-order dependencies. Finally, a decision-level semantic alignment mechanism selectively injects patient-specific textual embeddings into graph representations, enabling semantics to directly guide predictions without perturbing the underlying network structure. Experiments on public brain network datasets ABIDE and ADHD-200 demonstrate state-of-the-art performance, enhanced stability, and improved interpretability, particularly in small-sample settings.

Traditional Chinese Medicine (TCM) diagnosis, particularly through tongue inspection, faces persistent challenges in subjectivity and reproducibility. The application of multimodal artificial intelligence to TCM clinical tasks, such as syndrome differentiation and prescription generation, is significantly hampered by the semantic gap between visual tongue features and textual reasoning, as well as the lack of large-scale, standardized datasets. To address these challenges, we introduce MMIR-TCM, a novel framework that emulates the diagnostic process of TCM experts by integrating multimodal large language model(MLLM) with memory-augmented segmentation and retrieval-augmented generation (RAG). Employing a three-stage architecture, MMIR-TCM integrates a training-free Memory-SAM module for robust tongue extraction, a fine-tuned Qwen3-VL model for structured tongue diagnosis generation, and a Qwen3-based RAG component for evidence-grounded clinical decision support generation. The framework was developed and validated using MedTCM, a new large-scale multimodal dataset that we introduce specifically for advanced TCM research. To properly evaluate our framework's clinical accuracy, which existing metrics fail to capture, we also developed TDEU, a domain-specific evaluation metric incorporating semantic understanding and diagnostic importance. Our comprehensive experiments demonstrate that MMIR-TCM significantly outperforms leading models, including GPT-4o and Gemini 2.5 Flash.

INTRODUCTION: Accurate MRI-based identification of Alzheimer's disease (AD), mild cognitive impairment (MCI), and related dementias remains challenging because disease-related structural changes are often subtle and heterogeneous. We developed NeuroBridge, a clinically guided multi-task MRI framework for neurodegenerative disease diagnosis. METHODS: NeuroBridge integrates large-scale self-supervised MRI pretraining with hippocampal segmentation, hippocampal atrophy classification, and reconstruction objectives, followed by gated fusion fine-tuning. Performance was evaluated across ADNI and OASIS cohorts, including cross-cohort transfer, probability-based analysis, and opportunistic screening. RESULTS: NeuroBridge achieved the highest performance across evaluated classification tasks, reaching 88.17% accuracy for AD versus cognitively normal controls in ADNI and 82.78% in OASIS. The largest gains occurred in MCI-related and mixed-diagnosis settings. The framework demonstrated strong cross-cohort generalization, systematic associations between predicted-class probability and accuracy, and the feasibility of probability-based opportunistic screening. DISCUSSION: Clinically guided multi-task representation learning improves neurodegenerative MRI diagnosis beyond conventional single-task approaches. NeuroBridge provides a robust and scalable framework for dementia assessment and MRI-based opportunistic screening.

Parkinson's disease (PD) selectively impairs distinct stages of motor control. Using backspace events as natural error-correction episodes in the public neuroQWERTY MIT-CSXPD dataset (n=57 subjects, 27 PD with UPDRS-III scores), we test whether passively-collected keystroke timing dissociates a variability-based pre-error monitoring signal from a speed-based post-error recovery signal. Pre-error typing instability does not track PD severity (r=-0.072, p=0.721), while post-error pause duration does (r=+0.656, p=0.0002; subject-level OLS p=1.2x10^-4, n=27, primary analysis given within-subject event clustering). A mixed-effects log-normal model with a random subject intercept confirms this while retaining full event-level power (coef=0.0250, p=1.2x10^-4, n=1,563 events), closely matching the subject-level OLS despite an unrelated estimation strategy. Error-detection latency also correlates with UPDRS-III (r=+0.660), confirming the dissociation is between variability and speed, not detection and correction per se. A log-normal accelerated failure time model yields a coefficient of 0.0255 (bootstrap 95% CI [0.0146, 0.0357]), a 2.6% increase per UPDRS-III point. After controlling the immediately thecoefficient attenuates to 0.0133 (p=3.1x10^-21),consistent w timingincrement above general bradykinesia. Results reacross both S2:r=+0.645), survive jackknife exclusion of every subject, andnatingfinger-tapping and mPower smartphone tapping (group AUC=0.836). cellent(ICC(2,1)=0.945, n=20).

Neurological disorders involve diverse pathologies of the brain and nervous system, making early and accurate detection essential. While many deep CNNs have been developed for MRI-based classification of neurological disorders, most are optimized for binary tasks and often fail to capture the multi-class features needed to distinguish subtle anatomical differences across conditions. This study proposes the Enhanced Neurological Disorder Detection Network (End-Net) for multi-class MRI classification of neurological disorders. End-Net includes 24 convolutional layers, beginning with convolutional blocks followed by 21 optimized inception modules. These modules extract multiscale features via parallel 1 x 1, 3 x 3, and factorized 5 x 5 convolutional branches, along with max pooling, enabling the model to capture complementary texture, edge, shape, and contextual information. A global average pooling head, compact fully connected classifier, and dropout reduce parameters, limit overfitting, and improve robustness. End-Net was evaluated on the Multi-Class Neurological Disorder dataset, comprising MRI scans from patients with Alzheimer's disease, brain tumors, multiple sclerosis, and healthy controls. Severe class imbalance was addressed by augmenting minority classes with WGAN-GP and randomly undersampling the majority class. The results show that End-Net outperforms existing architectures in both accuracy and generalization. The model is also integrated into an online system for real-time web-based inference and accessibility.

Deep learning models for diabetic foot ulcer (DFU) segmentation routinely report high accuracy, but they are almost always trained and tested on the same dataset, leaving their behaviour on data from a different clinical source largely unmeasured. We benchmark three representative segmentation architectures -- U-Net and DeepLabV3+ (convolutional) and SegFormer-B2 (Transformer) -- under an identical, leakage-screened protocol: training on the combined FUSeg/AZH wound data and evaluating, without fine-tuning, on two independent external datasets (DFUC2022 and Medetec). All models achieve strong in-domain performance (Dice 0.80--0.83) but degrade substantially across datasets. The degradation is, however, architecture-dependent: SegFormer-B2 generalizes best on both external sets (DFUC2022 Dice 0.557, Medetec Dice 0.786), outperforming both convolutional models, while the more complex DeepLabV3+ generalizes worse than the simpler U-Net. Per-image failure analysis on 2,160 images across both external test sets confirms that SegFormer-B2 produces the fewest catastrophic failures on DFUC2022 (31.1%), compared with U-Net (38.5%) and DeepLabV3+ (43.0%). The consistent ranking across two independent external sources, confirmed by Wilcoxon signed-rank tests (p < 0.001 on both datasets), indicates that architecture family, not model complexity, drives cross-hospital generalization.

Abdominal ultrasound is indispensable for rapid, noninvasive trauma triage. However, interpreting the subtle dynamic cues embedded in continuous scanning is time-intensive and operator-dependent. Parameter-Efficient Image-to-Video Transfer Learning (PEIVTL), which efficiently adapts pre-trained image models to the video domain, notably through visual-textual alignment, offers a promising paradigm for ultrasound video analysis. Nevertheless, substantial spatiotemporal and semantic variations arising from physician-dependent scanning practices continue to limit the effectiveness and generalizability of this framework. We propose TRUST, a scan-aware PEIVTL framework that explicitly models fine-grained spatiotemporal variations to enable reliable ultrasound video understanding. First, we introduce a Cross-Frequency Collaborative Adapter (CFCA) that establishes mutual constraints between low- and high-frequency components, enhancing discriminative spatial feature extraction under heavy speckle corruption. Second, we design a Multi-Granularity Motion-Aware (MGMA) module that integrates local temporal convolutions with motion-prior-guided global self-attention, jointly capturing stable intra-view patterns and abrupt inter-view transitions to characterize complex scanning dynamics. Third, a Visual Query Semantic Aggregation (VQSA) module dynamically generates text prototypes conditioned on visual features, enabling adaptive visual-textual alignment robust to intra-class variability under diverse scanning conditions. Experiments on in-house ultrasound trauma datasets demonstrate that TRUST outperforms state-of-the-art methods by 9.63% with superior computational efficiency.

Existing facial expression quality assessment (FEQA) methods typically produce only a severity score, without explicitly communicating the observable facial motion evidence that supports the prediction. This limits interpretability and makes it difficult to inspect the basis of model outputs in Parkinson's disease assessment. To address this gap, we propose TraMP-LLaMA, a unified multimodal framework that jointly predicts severity scores and generates structured textual reports from facial motion cues. The framework integrates RGB appearance and landmark trajectory cues, and adopts a decoupled instruction-tuning strategy to reduce task interference between severity prediction and language generation. To support this task, we further extend the PFED5 dataset with expert-guided textual motion descriptions and construct PFED5-plus. Experiments on PFED5-plus show that TraMP-LLaMA outperforms competitive video-language baselines in report generation and achieves the best severity prediction performance among the compared methods under joint multi-expression training, improving Spearman's rank correlation by at least 4.39 percent over all competing methods. The text annotations and code are available at https://github.com/shuchaoduan/TraMP-LLaMA.

Mental health assessment commonly relies on isolated screening instruments or data-driven models that often lack interpretability and multi-dimensional integration. Existing approaches frequently focus on individual indicators such as depression or anxiety while providing limited support for comprehensive and explainable decision-making. To address this limitation, this study proposes PsyBridge, a hybrid intelligent decision-support framework designed for multi-dimensional mental health assessment through the integration of clinically validated screening tools, cognitive evaluation, and personality profiling within a unified architecture. The proposed framework incorporates PHQ-9 and GAD-7 assessments alongside cognitive and behavioural indicators using a modular design and a weighted aggregation mechanism to generate interpretable mental health risk classifications and recommendations. To evaluate the framework, a semi-synthetic dataset consisting of 500 patient profiles representing varying severity levels was constructed based on clinically grounded score distributions. Experimental results demonstrate that PsyBridge achieves an overall accuracy of 0.84, outperforming standalone PHQ-9 and GAD-7 assessments while improving precision, recall, and F1-score. Sensitivity analysis and ablation studies further indicate that integrating cognitive and personality components contributes to more stable classification performance and reduces inconsistencies in moderate-risk prediction. The findings suggest that PsyBridge provides a scalable and interpretable approach for AI-assisted mental health decision support, particularly within digital healthcare and telehealth environments.