Diagnosis
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31 papers in the last four weeks, down 11% on the four weeks before. 0.4% of all new papers.
Latest papers 284
Industrial processes are complex systems composed of multiple interacting sensors that generate multivariate time series (MTS). Detecting anomalies in such systems is critical for reliability and safety, yet understanding their origin is equally important. Existing Graph Neural Network (GNN)based methods for anomaly detection primarily focus on sensor-level deviations and either attribute anomalies directly to the deviating sensors. When diagnosis is attempted, generally, the most deviated sensor is identified as a root cause of a system fault. However, in many industrial systems, anomalies do not arise from faulty sensors but from disruptions in the influences governing the system dynamics. We propose an explainable GNN-based anomaly detection framework that shifts the perspective from sensor-level anomalies to component-level diagnosis, hypothesizing that anomalous measurements are symptoms of altered inter-sensor influences. Experiments show that the method effectively identifies and prioritizes the true faulty components, providing interpretable insights into system failures.
SymDiag: Explainable Diagnosis for LLM Reasoning via Neuro-Symbolic Verification
Large language models (LLMs) increasingly serve as data-driven reasoners, yet their chains-of-thought (CoT) can be unfaithful even when final answers are correct. Most existing
verification'' signals are not diagnostic: answer matching observes only the outcome, LLM-as-judge provides subjective and non-verifiable critiques, and scalar rewards (e.g., PRMs/RMs) offer little insight into where a multi-step derivation fails.We propose \textbf{SymDiag}, a neuro-symbolic framework that \textbf{reframes reasoning verification as structured failure diagnosis}. SymDiag translates natural-language CoT into symbolic constraints and performs step-level satisfiability/entailment checks to (i) localize failing steps and (ii) produce verifiable diagnostic evidence, including counterexamples, inconsistency witnesses, and missing-premise indicators. A central challenge is that apparent logic violations'' can be caused either by genuine reasoning defects or by neural-to-symbolic translation noise. SymDiag therefore incorporates a Self-Auditor that disentangles TranslationError from ReasoningError via dual symbolic encodings consistency checks, enabling robust diagnosis under partial observability. Across diverse mathematical, logical, scientific, and general reasoning benchmarks, SymDiag improves detection of unfaithful reasoning and provides substantially more effective feedback for multi-round reasoning repair than outcome-only verification and LLM-based judging, offering a principled foundation for trustworthy and scalable reasoning diagnosis.Parcel2Progression: An Anatomy-aware Longitudinal Framework for Alzheimer's Disease Diagnosis
Alzheimer's disease (AD) progression is a longitudinal process with subtle pathological cues in the early stages. Yet, computational constraints have limited most neuroimaging models to either compromise spatial information or limit the number of longitudinal scans. We aim to overcome this bottleneck and fully leverage high-resolution, variable-length T1w structural MRI (4D sMRI) scan sequences. We introduce Parcel2Progression (P2P), a Longitudinal Transformer Framework which tackles this challenge using an Atlas-guided Parcel Encoder that tokenizes 3D scans into a set of richer anatomically grounded representations. A Longitudinal Transformer then integrates irregular, arbitrary-length longitudinal visits with patient age. This synergy delivers two key advantages: (1) parcel-specific interpretability, and (2) computational tractability for long-term analysis, which scales linearly with the number of scans compared to a naive quadratic 4D ViT cost. P2P outperforms prior works and baselines in both MCI (Mild Cognitive Impairment) to AD conversion prediction and AD vs. CN (Cognitively Normal) classification tasks across ADNI, AIBL, and MIRIAD datasets. Leveraging longitudinal scans boosts performance over single-scan baselines by up to 5% and 7% in balanced accuracy for AD classification and MCI conversion prediction tasks, respectively. Interpretability analysis using parcel saliencies and attention rollouts reveals clinically consistent atrophy patterns in AD and MCI subjects. We also demonstrate the frameworks' reliability in anomaly detection using a synthetic dataset, and test the model's generalizability for other neurodegenerative diseases like Frontotemporal Dementia.
TomaMMU: A Comprehensive Multimodal Understanding Benchmark for Tomato Leaf Diseases
To address this gap, we introduce TomaMMU, a large-scale Tomato leaf disease MultiModal Understanding dataset, alongside TomaBench, a benchmark for evaluating VLMs on tomato disease understanding. TomaMMU comprises 28,808 high-quality images spanning 15 categories and 213,119 human-annotated visual question-answer pairs, generated through a three-stage pipeline comprising Data Collection, Human Annotation, and Question-Answer Generation. Building on this foundation, TomaBench organizes seven agricultural tasks into a hierarchical three-level taxonomy spanning Basic Perception, Pathology Understanding, and Expert Diagnosis, which together enable systematic evaluation from low-level visual recognition to high-level diagnostic reasoning. The tasks assess visual symptom recognition, taxonomic relationships, and diagnostic reasoning, offering a comprehensive view of how well models grasp plant pathology. Our results pronounced gaps in fine-grained recognition and factually grounded reasoning with 14 state-of-the-art VLMs, consistently underperforming on both challenging MCQs and open-ended questions. These results suggest that current VLMs struggle to translate visual perception into reliable diagnostic knowledge, motivating the need for targeted domain adaptation. Simple fine-tuning on TomaMMU substantially narrows this gap, boosting accuracy on challenging MCQs to 96.09%, outperforming recent VLMs, and pointing toward promising directions for future work. All data and code is available in https://huggingface.co/datasets/enalis/TomaMMU.
Walking through Discussions: A Mobile Visual Analytics System for In-Situ Group Discussion Analysis
Group discussion-based teaching is widely used to foster collaborative learning, yet teachers in physical classrooms often struggle to simultaneously monitor multiple groups and quickly diagnose a target group before intervening. Existing visual analytics tools primarily support post-hoc analysis on desktop, providing limited support for in-situ walk-around teaching. To address this gap, we present MobileGroupVis, a mobile visual analytics system for in-situ analysis of classroom group discussions. MobileGroupVis integrates multi-group monitoring, single-group diagnosis, and instructional intervention into a concise analytical workflow tailored for small-screen touch interaction. The system is powered by a lightweight streaming analysis pipeline that converts group audio into structured discussion data and further extracts interaction patterns, topic progression, and topic deviation through a dialogue analysis module. To enable both glanceable overview and traceable diagnosis, we design six coordinated views, including a compact glyph that visually encodes word count, interaction intensity, and topic deviation for efficient cross-group comparison and anomaly localization, along with detailed views for opinion evolution, interaction dynamics, topic coverage, and dialogue records. We evaluate MobileGroupVis through two case studies and expert interviews. The results provide preliminary evidence that MobileGroupVis supports teachers in understanding discussion processes, identifying groups in need of attention, and facilitating in-class intervention.
Deep probabilistic logic programming for diagnostic reasoning from incomplete information: A case study in stroke detection
In medical applications, raw data is frequently associated with significant privacy concerns, lending particular importance to the encoding of summary statistics from the literature. On the other hand, deep learning has become an invaluable tool for assessing symptoms based on visual or auditory sensor data. DeepProbLog allows for an extensible neuro-symbolic approach that accommodates connectionist components to analyse patient images within a transparent and rigorous probabilistic framework, namely probabilistic logic programming under the distribution semantics. Framed as a case study in stroke detection from multimodal data, this contribution explores the pathway from summary statistics available in the literature to a DeepProbLog-based diagnostic system. It suggests a workflow using established maximum entropy techniques to complete available probabilistic information and the probabilistic logic programming system ProbLog 2 to move from the entropy-maximising causal model to a discriminative neuro-symbolic model expressible within DeepProbLog. The relative performance of models derived from less complete data is analysed alongside the potential of the probabilistic inductive logic programming system ProbFOIL 2 for compressing large discriminative models, and the perspectives and implications of using DeepProbLog for diagnostic reasoning are discussed.
Machine-Learning-Based Diagnostic Framework for Passive Ultrasonic Detection of Railway Wheel Defects
Reliable identification of railway wheel defects is important for safety and maintenance. This study develops a machine-learning-based diagnostic framework for multi-class defect identification using passive air-coupled ultrasonic acoustic emission signals. Data were collected from eleven full-scale railway wheelsets representing nine health states. Time- and frequency-domain features were evaluated using Kruskal-Wallis statistical testing and mutual-information analysis to identify the most discriminative indicators. A Random Forest classifier was then trained using the selected features with stratified 5-fold cross-validation. The model achieved a balanced accuracy of approximately 0.66 and a Macro-F1 score of 0.65 across the nine classes. Decay rate, kurtosis, skewness, and envelope low-frequency power emerged as the most influential features, while a compact subset of features retained most of the classification performance. The results demonstrate the feasibility of combining passive ultrasonic sensing, statistical feature selection, and supervised machine learning for non-contact railway wheel defect classification and provide a foundation for future field-deployable inspection systems.
Opportunity Is Not Realizability: Selection-Valid Diagnostics for Multi-LLM Routing
Oracle routing measures how much a pool of language models could gain from per-query selection, but the diagnostic has two flaws: testing against a best fixed model selected on the same examples invalidates paired inference, and a full-information oracle sees outcomes no deployable router observes. We separate three estimands (outcome-oracle opportunity, the Bayes-optimal gain from a declared pre-answer signal, and the held-out gain of a learned router) and prove selection-valid confidence intervals that survive choosing the best fixed model or the best member of a router family, a signal-information sandwich, and a greedy guarantee for building compact pools from submodular complementary coverage. On eight checkpoints from six families over four benchmarks, selection-valid intervals certify a population oracle gap of -- points on every task, yet the strongest deployable prompt router recovers only -- of it, and the simultaneous interval for the best of eleven tested policies has lower limit zero throughout. The realizable share of oracle opportunity is small and certifiable: strong routers beat the best fixed model, and most of the gap remains.
Evaluator Ensembles Under Reward Hacking: Covariance Geometry and Finite-Search Guarantees
Language-model judges and reward models enable scalable supervision, but finite optimization can exploit evaluator errors rather than improve response quality. We characterize this failure through the covariance geometry of evaluator ensembles. For calibrated judges, the ensemble mean retains common-mode error along the all-ones direction, whereas cross-judge disagreement captures only orthogonal error. Consequently, disagreement can be high despite robust aggregation, or low while shared response-dependent errors persist. We prove that common-mode error is not identifiable from internal judge scores alone. Under a joint sub-Gaussian model, we bound best-of-K selection overstatement and target-quality regret, extending the guarantees to predictably adaptive search under conditional calibration. The resulting search terms scale as the square root of log K and are asymptotically tight for Gaussian projected errors. We further show that noisy quality proxies introduce artificial rank-one covariance without changing disagreement, and propose a bounded two-anchor Bernstein certificate for finite-search error and regret. Fixed-seed Gaussian stress tests over 120 (J, rho, K) configurations and real-model audits validate the theory while revealing the limits of disagreement-based diagnostics under increasing search pressure.
From Uncertainty to Failure Attribution: Self-Diagnosing Models for Failure Attribution under Distribution Shift
Distribution shift poses a significant challenge to the robustness of machine learning models, but the current solutions only aim to detect out-of-distribution (OOD) samples and predict uncertainty levels. We introduce a problem setting for failure attribution under distribution shift, which enables the models not only to detect OOD samples, but also to find out the reason for their failure. The solution we propose is called self-diagnosing models, which are capable of jointly learning predictive output, predictive uncertainty, and a failure attribution signal. In particular, we use the failure attribution vector, produced by a neural network, which provides a structured representation of predictive unreliability by distinguishing four different types of failures: covariance shift, semantic shift, noise corruption, and adversarial perturbation. In other words, we move from scalar uncertainty towards failure identification. For training the model, we introduce a consistency regularizer that encourages consistency between uncertainty and failure attribution predictions. Moreover, to be able to evaluate the model on its ability to find the reasons for failure, we construct several distribution shift benchmarks with predefined mechanisms for generating distribution shifts.
Is Self-Pretraining really useful to improve diagnosis in medical Time Series?
Inspired by recent evidence that transformer architectures benefit from Self-PreTraining (SPT) on long-context benchmarks, we investigate whether similar gains extend to multimodal, multivariate, and even simple univariate medical time series. Our objective is to assess the impact of SPT on the performance and scalability of transformer-based models across diverse medical applications, particularly under limited data conditions. We evaluate transformer architectures on three representative medical time-series tasks: rehabilitation robotics (Camargo dataset), stress detection (Non-EEG Stress), and Parkinson's disease detection (Gait Parkinson's Disease). Models are trained either from scratch or through SPT using four masking-based objectives designed to promote temporal and cross-modal representation learning, and we systematically vary model depth to examine how capacity interacts with pre-training benefits. Across datasets and configurations, SPT consistently improves classification accuracy by 0-6 percentage points depending on masking strategy, dataset and architecture, with gains observed not only in multivariate settings but also when models are restricted to simple univariate inputs. The improvements increase for deeper models that can better exploit the enriched temporal representations learned during pre-training. These findings indicate that SPT is a simple and general strategy that enhances transformer performance on medical time-series tasks without requiring task-specific architectural changes, supporting its potential to improve robustness and accuracy in data-limited clinical settings.
When Proxy Prediction Becomes Equation Reconstruction: Diagnostics and Residual Learning for Factor-Derived Proxy Supervision
Scientific machine learning often relies on proxy targets computed from known domain factors when direct observations are limited. When those same factors are used as model inputs, however, high predictive accuracy may reflect reconstruction of the proxy-generating equation rather than robustness to degraded factor information. We study this problem in RUSLE-derived soil-loss proxy prediction under controlled degradation of the soil-erodibility factor . We introduce a diagnostic framework that combines degraded-formula references, classical tree-based baselines, matched direct and formula-feature predictors, contextual ablations, tail-error analysis, and degradation robustness scoring. We then propose RASPL, a formula-preserving residual framework that retains the degraded formula estimate as the prediction anchor and learns an adaptively gated contextual correction. RASPL substantially outperforms matched direct prediction and provides stronger degradation and tail robustness than treating the formula estimate as an ordinary input feature. Within RASPL, a compact statistical encoder achieves the highest macro-averaged and lowest computational cost, whereas a convolutional encoder achieves the strongest degradation robustness and lowest Tail95 mean absolute error (MAE). These results establish formula preservation as the central design principle for robust learning from factor-derived proxy targets.
ReGround: Restoring Visual Grounding in Multi-Step Reasoning through Self-Diagnosis and Visual Re-Examination
Vision-Language Models (VLMs) often lose visual grounding during multi-step reasoning: as reasoning chains grow longer, later inference steps rely increasingly on language priors rather than image evidence. We identify a consistent benchmark-level signature associated with this degradation: across 2,510 re-examined samples from four benchmarks, attention entropy over image tokens typically decreases during Round 1 and rises again after image re-injection. However, we find that effective visual re-examination requires two complementary ingredients: image re-injection and targeted self-diagnosis. Without targeted diagnosis, re-examination can even hurt performance, whereas accurate self-diagnosis yields substantial gains -- a swing of several points on key benchmarks, indicating that diagnostic quality is a key factor in whether re-examination helps or hurts in our setting. We present ReGround, a two-stage framework that teaches VLMs to self-diagnose grounding failures and selectively re-examine visual evidence, without architectural modifications or external tools. Through capability bootstrapping, a stronger variant from the same model family provides diagnostic scaffolding only during data construction, while the policy model learns to diagnose autonomously at inference time and retains most of the assisted gains. Experiments on eight benchmarks across two VLM backbones demonstrate consistent gains, especially on visually intensive multi-step reasoning tasks, while incurring only modest inference overhead relative to tool-augmented baselines. Project page: https://sespoir.github.io/reground-page/ . Code: https://github.com/sespoir/ReGround .
Wrong Operator or Blind Design? A Reference-Free Diagnostic for Physics-Informed Coefficient Learning
Physics-informed neural networks and hybrid models infer PDE coefficients from noisy data. When a trained network returns one, no standard check says whether to trust it. We show what those checks report when the operator is wrong: one sensor aggregating several diffusion sources. On one parabolic benchmark at noise, the in-domain error is times the noise while the identified diffusivity settles off. Every least-squares minimiser reaches that value, which drifts across windows; the network, whose objective is composite, settles away. The checks stay as silent when the design is blind to a rate of a richer operator, though the remedies are opposite. We develop a reference-free diagnostic, read in the physical parameter, not the weights, without retraining the network: an information-matrix test on the residuals, a heterogeneity statistic across window refits, and a Fisher-rank statistic on the design at the rates the single fit postulates. On the analytic head the specification test holds its pre-registered ceiling and rejects every misspecified replicate of both benchmark configurations, with a notch against a missing reaction term. The rank statistic is exactly zero only where the design is blind; a wrong operator confined to that mode leaves the specification test mute, and the rank statistic says so before any fit. The window reading exceeds its ceiling by one seed in thirty. A network frozen at its minimum returns the same verdicts; one stopped short rejects as a wrong operator would.
An Actionable Diagnosis of Multilingual, Multi-Agent Planning Failures
Multilingual multi-agent systems exhibit substantial degradation beyond English, yet prior work rarely identifies how task-critical information is lost when user requests are converted into executable plans. We study the planner in a multi-agent system as the request-to-action interface and derive an actionable taxonomy of planning-grounding failures from failed real-world task executions. LLM-based analysis shows that these failures constitute an increasing share of unsuccessful executions as language-resource availability declines, with the strongest effects in low-resource languages. To test whether the taxonomy supports mitigation, we introduce TART, Taxonomy-Guided Actionable Representation, that makes the taxonomy's key aspects explicit to the planner and downstream sub-agents. Across multiple languages, three LLM backbones, two datasets, and two agentic configurations, TART consistently improves performance. On multilingual GAIA, it raises a state-of-the-art system's accuracy by 5.6 percentage points averaged across eleven languages spanning low- to high-resource settings.
LAEF: A Lead-Agnostic ECG Foundation Model Towards Point-of-Care Diagnostics
Point-of-care cardiac devices such as smartwatches and handheld ECG recorders typically capture 1--2 leads, yet existing ECG foundation models are architecturally constrained to fixed 12-lead inputs, degrading or failing under these reduced configurations. We introduce LAEF (Lead-Agnostic ECG Foundation), a 7M-parameter ECG foundation model that can natively process any lead subset without zero-padding or architectural modification. LAEF represents ECGs as variable-size spatiotemporal graphs with physiologically motivated intra- and inter-lead connectivity, processed by a Graph Attention Network that scales naturally with active lead count.Pre-trained on 9.2M 12-lead ECGs via masked node modelling with stochastic lead sampling, LAEF learns representations robust to lead configuration. Across 18 downstream datasets, LAEF is on par with specialized 12-lead baselines over 12 larger at full lead availability. Under direct point-of-care-oriented diagnostics (1--2 leads), it outperforms all zero-padded alternatives on 17 out of 18 datasets with with a single randomly sampled lead and on 14 out of 18 with 2 leads, with an average AUROC gain of +3.2 points. Representation analysis links this advantage to architectural lead-agnosticism, and a lead-importance study across 164 cardiovascular conditions shows population-level performance is stable across single standard input leads while still recovering established clinically lead-condition associations.
DiagLoop: A Counterfactual Data Flywheel with Stage-Localized Reinforcement for Diagnostic LLMs
Causal diagnostic models must explain how conclusions follow from evidence because diagnoses guide repairs and treatments. Yet serious cases are scarce, records rarely contain reasoning paths, and data transfer poorly across configurations, complicating local deployment. We present DiagLoop, a counterfactual data flywheel that converts codified physical relations or clinical guidelines, authored once per mechanism family, into training supervision beyond recorded cases. A training-only teacher proposes counterfactual worlds by varying causes, contexts, and observations, while an independent hybrid checker admits only valid worlds. The student reasons through symptom abstraction, causal-chain construction, and root-cause attribution. Stage-specific criteria identify its earliest failure. For nonterminal failures, a bounded repair probes downstream competence, and the resulting weakness profile guides subsequent data generation. Stage-localized reinforcement learning updates only the model-generated continuation, while replay and preservation reduce forgetting. The same criteria govern admission, attribution, reward, and regeneration through checks separate from the proposer. Using only synthesized scenarios and no case-level expert reasoning annotations, the resulting 8B model improves strict path correctness over the strongest conventional baseline. Gains are 11.6 points across eight industrial systems and 5.5 points across ten disease categories. Gains over a deranged-routing control are 3.9 and 2.3 points, respectively. The model also exceeds the evaluated proprietary references in both domains, even when they receive few-shot examples or the specification in context.
PDD-RRG: Posterior Diagnostic Decision for Study-level Radiology Report Generation
Automatic radiology report generation (RRG) aims to simulate the workflow of radiologists, assisting them in clinical diagnosis. However, existing methods often fall short in utilizing all information relevant to the examination, as is typically done in clinical practice. Although some works attempt to incorporate multi-view images and historical data, these additional inputs may sometimes lead to avoidable diagnostic errors on the contrary. To address these challenges, we introduce a decision-making stage after report generation for the first time and propose a Posterior Diagnostic Decision framework (PDD-RRG) to integrate potentially conflicting diagnoses. Specifically, we create various subsets of input data and utilize an existing RRG model to generate reports from different perspectives. Then the Bayesian posterior probability and the learned thresholds for each clinical observation are calculated to obtain an aggregated diagnostic conclusion, which is subsequently used to refine the generated report. Experiments on MIMIC-CXR demonstrate that our proposed PDD-RRG can effectively enhance the clinical efficacy of existing RRG models without any retraining.
Separating Decision-Rule Misalignment from Readout-Coverage Limitations in Speech Language Models
Speech language models are increasingly evaluated on paralinguistic tasks by the accuracy of prompted answers, but answer accuracy combines failures at different stages of the audio-to-answer computation. We introduce a generation-aligned diagnostic ladder that compares the emitted answer, the option logits, an affine readout of those logits, and a linear readout of the hidden state at the same answer token. Successive differences separate endpoint, decision-rule, and readout-coverage gaps. Across five systems and two emotion corpora, state decoding exceeds generation by 27.8 accuracy points on average, and both the decision-rule and readout-coverage gaps are positive in all ten conditions. A label-free logit correction improves generated accuracy in every condition, showing that part of the decision-rule gap is actionable. In rank-matched comparisons, emotion information outside the native readout generalizes to held-out speakers and survives controls for measured acoustic descriptors, but replacing the selected readout-external directions usually has little effect on emitted answers. These results distinguish information availability from behavioral use and localize performance losses across the decision rule and the state-to-answer readout.
Style Wins, Substance Loses: A Diagnosis of LLM-as-Judge in Idea Generation
However, whether these judges truly evaluate the scientific substance of ideas or are influenced by superficial stylistic presentation remains an open question. To address this question, we propose SciStyleBench, a unified three-component benchmark for diagnosing and mitigating stylistic bias in LLM-based idea evaluation: (i) First, SciStyleStage, a three-stage evaluation environment that applies controlled stylistic perturbations to fixed scientific content across three settings no context, fixed-domain context, and open-domain retrieval context, covering 600 scientific ideas and 15 style variants, with 9,000 evaluation instances per setting; (ii) Second, SciStyleMetrics, a set of quantitative measures, including Style Bias Index (SBI), Substance Recognition Rate (SRR), and Adversarial Win Rate (AWR), to characterize how stylistic variation affects scoring stability, substance discrimination, and ranking robustness; (iii) Third, SciStyleExtractor, a plug-and-play evaluation module that separates presentation style from scientific content by predicting style type and deviation before style-conditioned evaluation, enabling us to assess whether style awareness reduces stylistic bias. Experiments on SciStyleBench show that direct LLM judges remain sensitive to writing style and struggle to distinguish scientific substance. In contrast, SciStyleExtractor reduces SBI from 0.566 to 0.501 while increasing SRR and AWR from 0.504 and 0.554 to 0.759 and 0.899, respectively. These results suggest that robust idea evaluation requires invariance to stylistic variation without sacrificing sensitivity to scientific substance. Overall, SciStyleBench provides a systematic framework for identifying, quantifying, and mitigating stylistic bias in scientific idea evaluation.
MedUPS: Towards Diagnostic Assistance in Uncommon Medical Cases with Large Language Models
Uncommon and off-guideline cases are difficult for clinical decision support, because physicians must make a series of management decisions under diagnostic uncertainty and rarely see the full case at once. Most large language model (LLM) benchmarks for medicine score only the final diagnosis, yet much of clinical care turns on the next appropriate action: the next test to order, the imaging study to obtain, the specialist to involve, or the differential to pursue. We introduce MedUPSQA, a dataset of 21,874 mid-stream clinical decision points built from 5,535 real case reports, and MedUPS, an alignment framework that supervises models on these intermediate decisions as they unfold along a patient's trajectory. We segment free-text case presentations into chronologically ordered, accumulating clinical chunks and align models to predict the next step with reinforcement learning (GRPO), using an external LLM-as-a-Judge reward. This objective mirrors how clinicians actually meet patients, reasoning forward from accumulating evidence toward the next decision, rather than committing to a final label. Across three backbones, mid-stream alignment raises next-step accuracy from 55.2 to 66.7 for Qwen3.6-27B, from 47.2 to 57.8 for Qwen3.5-9B, and from 37.8 to 44.4 for HuatuoGPT-3-8B, with 95% CI. In several model scales we test the objective improves accuracy more than scale, with smaller models surpassing larger, frontier models we evaluate. We further train supervised fine-tuning (SFT) baselines on the mid-stream task, SFT improves all backbones above base, indicating the target framwork carries signal independently of the optimizer. We release the dataset, code, and aligned checkpoints.
xMICD: Explainable Representation of Multiple ICD Codes
Electronic Health Records (EHRs) are widely used for clinical risk prediction using machine learning. International Classification of Diseases (ICD) codes provide structured information about patient diagnoses, but representing them effectively remains challenging. Existing approaches often face a trade-off between predictive performance and interpretability: grouping-based representations are interpretable but may lose information, while embedding-based representations achieve strong predictive performance but are difficult to interpret. We propose Explainable Representation of Multiple ICD Codes (xMICD), a method for constructing low-dimensional patient representations from sets of ICD codes. xMICD combines clinically meaningful diagnostic groupings with similarity in a pre-trained ICD embedding space. Instead of using binary group membership, the method assigns codes to groups via similarity-based relative assignments, yielding features that reflect how closely a patient's diagnoses align with each clinical group. Experiments on large-scale EHR datasets demonstrate that xMICD achieves predictive performance comparable to embedding-based representations such as ICD2Vec across multiple clinical prediction tasks. At the same time, the resulting features remain clinically interpretable because each dimension corresponds to a recognizable diagnostic group. xMICD therefore provides a practical way to integrate embedding-based semantic relationships into interpretable clinical feature spaces for machine learning models.
Diagnose Before You Compress: Prediction-Independent Bottleneck Witness Refinement for LLM Serving Traces
Production LLM serving generates millions of diverse requests, making full-trace replay across serving configurations increasingly expensive. Existing trace reduction methods mainly preserve workload distributions or representative requests, but bottleneck-revealing workloads may be rare and non-representative. Moreover, evidence for one component cannot compensate for missing evidence in another, while using predicted bottlenecks as target truth creates circular evaluation. These limitations make it necessary to preserve evidence for every bottleneck component rather than rely on workload representativeness alone. We propose Bottleneck-Preserving Witnessing (BPW), a quality-constrained framework for compact and diagnostically reliable LLM serving replay suites. BPW first performs Workload Candidate Nomination using response-blind workload features and closed source-side measurements. This stage identifies workloads that may expose scheduler, prefill, decode, or KV-cache bottlenecks. Coverage-Priority Sequence Construction then organizes multi-component proposals as reusable hyperedges and prioritizes weak and uncovered dimensions. Finally, Bottleneck Truth Verification derives prediction-independent labels solely from direct target-system measurements. The verified results determine the earliest prefix satisfying the direct two-witness requirement for every component. Experiments on BurstGPT, ServeGen, and Mooncake show that BPW reaches the verified gate with a compact workload set and outperforms 16 policies, achieving relative improvements of 2.3% and 16.3% in Mean prefix Macro-F1 and WBRC-AUC, respectively. Stage-resolved and sensitivity analyses confirm the distinct contributions and local stability of its three stages. Our code is publicly available at https://github.com/llmllmllm/BPW
Development of FDD-ON: an Ontology for VAV HVAC System Fault Detection and Diagnostics
Fault detection and diagnosis (FDD) technology is essential for improving HVAC system reliability, energy efficiency, and maintenance effectiveness. However, effective deployment of FDD solutions in buildings requires structured domain knowledge that can bridge heterogeneous data sources, diverse equipment types, and varied diagnostic outputs. Limited data interpretability and interoperability within the FDD domain have led to fragmented information silos, hindering the implementation of FDD and related applications, such as the digital twin-enabled FDD frameworks and artificial intelligence (AI)-driven maintenance decision-making systems. This paper presents an FDD Ontology (FDD-ON), a modular and extensible ontology to formally represent variable air volume (VAV) HVAC system components, fault types, symptom statuses, fault impacts and associated attributes. FDD-ON integrates HVAC system FDD semantics to provide comprehensive representations of fault and symptom attributes, supported by the well-defined controlled vocabulary. Additionally, FDD-ON offers comprehensive fault, symptom, and impact libraries to capture a broad spectrum of operational abnormalities and their consequences in VAV HVAC systems. Through explicit contributing cause-fault-symptom-impact relations, FDD-ON serves as a machine-interpretable basis for querying diagnostic knowledge, mapping heterogeneous FDD outputs, and developing interoperable FDD-related applications. FDD-ON is evaluated using publicly available VAV HVAC system datasets and demonstrated through FDD development applications. Results indicate that FDD-ON provides a foundational semantic framework for advancing scalable, transparent, and interoperable FDD solutions across various applications.
A Neurosymbolic Approach for Explainable Early Diagnosis of Alzheimer's Disease
Identifying reliable Alzheimer's disease (AD) markers typically requires manual, labor-intensive transcription and expert analysis, limiting its scale. We introduce an automated pipeline that extracts qualitative knowledge about potential AD progression indicators directly from audio recordings of verbal fluency tests. Our method uses pretrained foundation models to process raw audio and extract clinically relevant variables to construct a Bayesian Network (BN); this BN is used to reason about the AD progression markers and infer their qualitative relationships. Our system successfully recovers known clinical knowledge and identifies novel relationships between linguistic markers.
Autonomous Repair for Multi-Agent Systems via Monte-Carlo Tree Search
Multi-agent systems (MAS) are increasingly deployed to solve complex tasks. In case of incorrect or unsatisfactory outputs, users have to manually locate agent mistakes by inspecting agent trajectories (i.e., {\em failure attribution}) and provide feedback to refine the outputs (i.e., {\em repair}). Despite some recent work in MAS failure attribution, automated mechanisms to recover from such mistakes remain largely unexplored. To bridge this gap, we propose MARS, a search-based framework that formulates MAS repair as a Monte Carlo Tree Search (MCTS) process and navigates the vast space of potential repairs via diagnosis-guided expansion with taxonomy-augmented evaluation. Unlike standard MCTS, which evaluates a complete simulation via full rollout, MARS evaluates the agent trajectory using partial rollout to reduce token consumption. Furthermore, we introduce StateMAS, a large-scale MAS repair benchmark with 1,310 replayable multi-agent failure trajectories spanning four types of agent architectures and four LLM backbones. Experiments on StateMAS demonstrate that MARS consistently outperforms state-of-the-art methods, achieving an absolute improvement from 3.0% to 12.1% across all settings, while maintaining a comparable token consumption cost. The ablation study further confirms that taxonomy-augmented evaluation and diagnosis-guided expansion are critical to achieving these performance gains.
Performance of large language models in the optical diagnosis of colorectal polyps
Background and Study Aims: Accurate optical diagnosis of colorectal polyps guides resection strategy and surveillance, with multimodal large language models (MLLMs) showing potential for image-based diagnosis. We aimed to evaluate the diagnostic accuracy of MLLMs in classifying colorectal polyps and predicting histology. Methods: We conducted a retrospective diagnostic performance study using the PRIME dataset, a curated set of white light and narrow-band imaging (NBI) images. We evaluated Claude Opus 4, Google Gemini 2.5 Pro, GPT-o3, GPT-4o, and GPT-5. For Paris, Narrow-band Imaging Colorectal Endoscopic (NICE), and predicted histology, we calculated F1 scores, percent correct scores, and accuracy of each MLLM compared to expert responses for 132 cases. Cochran's Q and McNemar's Test were used to determine differences between predicted values of each MLLM. Results: The F1 scores among MLLMs were >0.9 for all models for neoplastic vs. non-neoplastic polyps. Gemini 2.5 Pro demonstrated the highest F1 scores for invasive vs. non-invasive polyps and low- vs. high-grade adenoma, at 0.560 and 0.492 respectively. Claude Opus 4 and GPT-5 had statistically significantly higher percent correct scores than other MLLMs at 41.7%, using Paris classification. Conclusions: Claude Opus 4 and Gemini 2.5 Pro showed the highest accuracy in differentiating polyp subtypes, performing closest to expert consensus. Sensitivity and specificity, however, did not meet ESGE standards, highlighting the need for prospective multicenter trials and the design of human-in-the-loop workflows before clinical deployment.
EarlyDx: An Admission-Anchored Benchmark for Open-Ended Generation of Evidence-Supported ED-Encounter Diagnoses
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 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.
Same Facts, Different Diagnosis: Measuring and Mitigating Narrative Anchoring in Clinical Language Models
Large language models used for clinical diagnostic reasoning are sensitive to sociolinguistic register, not just clinical content. We term this failure mode Narrative Anchoring: identical clinical facts expressed in different registers cause diagnostic outputs to diverge. Unlike prior demographic-bias work, which manipulates explicit identity tokens such as race or income, our benchmark isolates register as the sole channel of variation, with no demographic marker present in any form. We construct a dataset of 1,000 USMLE clinical vignettes, each rewritten into three sociolinguistically distinct personas under an independently audited fact-preservation guarantee, verified by a separate model that never sees the generation prompt. Across seven language models spanning three architecture families and scales, Narrative Anchoring is statistically significant under direct prompting in every model tested, with a Narrative Anchoring Gap of 0.064 to 0.151. Chain-of-thought reasoning and explicit debiasing instructions reduce the bias only partially, and their apparent gains are frequently confounded by accuracy collapse. We introduce NarrativeShield, a three-agent pipeline that structurally extracts and verifies clinical facts before diagnostic reasoning begins, reducing the Narrative Anchoring Gap to near-zero ( to ) and achieving the lowest rate of severely unstable decisions (DSS 0.8) of any method across all models, at a modest and mechanistically expected accuracy cost for most models. A stress test using a non-instruction-tuned base model shows that executing a debiasing intervention at all is gated by zero-shot instruction-following ability, not prompt content alone. We release our dataset, human-validated for fact preservation, as a standalone resource for studying register-based clinical bias.
Shared Semantic Codebook Distillation for Unpaired Cross-Modal Medical Classification
Cross-modal knowledge distillation can transfer diagnostic knowledge from a strong but costly teacher modality to a cheaper and more deployable student modality. In medical image analysis, however, the two modalities are often unpaired: they are collected from different patient cohorts and occupy geometrically incompatible feature spaces. This makes instance-level distillation invalid and direct feature matching unreliable. To address these challenges, we propose Shared Semantic Codebook Distillation (SSCD), which compares teacher and student representations through a shared discrete codebook. Each image is represented as a distribution over a common, modality-agnostic vocabulary, and knowledge is transferred by aligning these distributions across modalities, both globally and class-conditionally, without requiring paired samples or directly comparable raw features. The codebook is evolved online by exponential moving average and kept diverse through entropy regularization and dead-code restart. At inference, all teacher-side and codebook modules are discarded, leaving only the student encoder and classifier. On two heterogeneous unpaired settings, OCT-to-fundus retinal disease classification and CT-to-chest-X-ray pneumonia classification, SSCD improves the student from 64.5 to 70.2 macro-F1 and from 73.8 to 76.3 macro-F1, respectively, outperforming all evaluated distillation baselines on both settings. Code and pretrained models are available at https://github.com/DillanImans/SSCD-unpaired-distillation
Same Evidence, Different Target: Decoding How Diagnostic Evidence Bears on Causal Questions from Language-Model States
The same diagnostic result can support or challenge one causal claim yet fail to address another when the claims concern different populations, outcomes, estimands, pathways, or identifying assumptions. When the evidence and target vary together, a correct answer may reflect favorable or adverse wording, lexical overlap, or a familiar diagnostic pattern rather than matching the evidence to the causal question. We introduce paired prompts that repeat the same diagnostic evidence verbatim while changing the causal target. Each prompt is labeled Favors, Challenges, Unresolved, or Wrong Target according to how the evidence bears on the causal question. A pair is recovered only when both prompts are classified correctly. Using linear readouts trained on a separate development set, we analyze the final-token hidden state from the penultimate transformer block of Qwen2.5-7B-Instruct, Qwen3-8B, and Llama-3.1-8B-Instruct. On the 49-pair primary benchmark spanning nine diagnostic families, balanced accuracy ranges from 0.654 to 0.659 and 18-21 pairs are recovered. Two independent human reviewers assigned the same label to 95 of the 98 prompts (96.9%). Across checkpoints, balanced accuracy and complete-pair recovery exceed permutation nulls that preserve development scenario groups. In Qwen2.5, full-prompt balanced accuracy exceeds both restricted inputs, with paired-bootstrap intervals for both differences above zero. Readouts trained without development examples from the evaluated diagnostic family recover 21 pairs, including at least one in each of the nine families. The hidden-state readout exceeds a linear classifier on answer-option logits and text baselines in balanced accuracy and recovered pairs. These results show that the hidden state contains linearly decodable information about whether diagnostic evidence favors, challenges, or fails to address the causal target.
Hearsay: Vision-Language Medical Diagnoses Without an Image
When asked to describe a medical image that was never attached, frontier vision-language models do not abstain: they confabulate a diagnosis. We show that this confabulation is not random. It is structured by who the patient is said to be. Across chest X-ray, brain MRI, and dermatology, Claude Opus-4.7, GPT-5.4, and Gemini-3.1-Pro are each queried with only a demographic descriptor and no image, and changing the descriptor systematically shifts the diagnosis returned. Claude concentrates sharply: a 65-year-old white man asking about a skin mole receives Melanoma in nearly every response, and a 32-year-old Black woman asking about her chest X-ray receives a Sarcoidosis diagnosis whose reasoning reads "suspected, based on demographics and classic pattern.'' GPT-5.4's effect is broader, fabricating across every demographic cell we test, most conspicuously naming Sarcoidosis for young Black patients on chest X-ray. Two structural findings sharpen the problem. A hedged regime appears in which the prose acknowledges the missing image while the structured diagnosis field nevertheless names a disease, a dissociation invisible to prose-only audits. And Claude's dermatology effect collapses entirely when 'skin mole' is swapped for 'skin lesion' while GPT-5.4's is preserved, indicating that mirage is a family of distinct failure modes rather than a single phenomenon. Trustworthy VLM deployment in clinical pipelines requires auditing the structured output channel directly, and probe-word sensitivity should be treated as a first-class evaluation dimension
Reasoning in Real World Clinical Care: Why Large Language Models Are Not Yet Safe for Autonomous Clinical Decision Support
LLM now pass medical licensing examinations and, in curated cases, can rival physicians at diagnostic reasoning. These developments have accelerated the use of LLMs for symptom assessment and clinical decision support in diagnostic and treatment guidance, administrative documentation, and rules-based alert enhancement. This Perspective concerns the most consequential of these applications: the autonomous triage of self-presenting, undifferentiated patients, with little or no clinician in the loop. For that task, the evidence of safety does not yet exist. The gap is not in medical knowledge but in the fidelity of clinical evaluation: a model optimized to continue the most probable text is not optimized to act safely when the safe answer is the improbable must-not-miss diagnosis. Safe triage is not the selection of the most likely diagnosis; it is a sequential decision under asymmetric cost, in which the single catastrophic miss outweighs many false alarms, and the decisive signal may be one the patient has not volunteered - and that the model has not been trained to seek. The core deficit is therefore one of information gathering under uncertainty. Under incomplete histories, LLM systems may fail to show the behaviors safe triage requires: broadening the differential; seeking the missing red flag; lowering the threshold for escalation; deferring judgement until sufficient information is obtained; and escalating concern where high-harm diagnoses remain unexcluded. These modes of failure for LLMs can be difficult to detect considering that evaluations to date often use complete, well-curated, confidence-gated simulations. The application of LLMs under these conditions may be amplified by assistant-like behaviors and positive bias, including credulity, agreeableness, and miscalibration - when these are not constrained by clinical triage logic.
GuideSkill: Evolving Executable LLM Agent Skills for Guideline-Grounded Clinical Reasoning
Clinical practice guidelines (CPGs) encode diagnostic criteria, but LLM systems typically retrieve guideline text or absorb it through training rather than execute its rules. We introduce GuideSkill, an external reasoning layer that compiles disease-specific criteria into executable functions returning ordinal diagnostic-support scores. GuideSkill-Zero is initialized from guidelines, while GuideSkill-Evo uses case--diagnosis pairs to refine covered skills and add missing diagnoses. At inference, an LLM proposes a differential diagnosis, grounds the features required by each matched skill, and fuses its ranking with the executed skill scores. Across four benchmarks and four backbones, GuideSkill-Zero improves macro-average accuracy over guideline RAG by 13.45% on average. GuideSkill-Evo achieves the highest macro-average for every backbone, improves over direct inference by 18.49% relatively, and increases gold-label skill coverage from 56.5% to 99.5%. On Qwen3.5-9B, it also exceeds the strongest parameter-update baseline by 11.16% without updating the backbone. Expert evaluation further indicates that GuideSkill produces clinically sound and broadly acceptable skills, suggesting that its initialized and evolved rules are reliable and practically meaningful. These results support executable skills as a model-agnostic mechanism for combining guideline-derived procedures with case-derived diagnostic patterns.
Evaluating Multi-Turn Multimodal Diagnostic Reasoning on Challenging Real-World Clinical Cases
Clinical diagnostic evaluation should not only assess whether models can provide correct diagnoses, but also reflect the realities of clinical practice, including progressive disclosure of multimodal information, dynamic updating of diagnostic hypotheses, and continuous refinement of clinical reasoning. However, existing evaluations of multimodal large language models (MLLMs) typically rely on single-turn or isolated tasks, making it difficult to fully capture the complexity of real-world clinical diagnosis. To bridge this gap, we developed ClinMM-Bench, the largest multi-turn multimodal clinical diagnostic evaluation benchmark to date. ClinMM-Bench contains 1,089 challenging real-world clinical cases and 3,760 medical images across eight specialties. We systematically evaluated 15 representative MLLMs using a two-level evaluation framework that assessed both diagnostic accuracy and diagnostic reasoning quality. Results showed that proprietary models achieved the highest overall diagnostic accuracy, but the proportion of completely correct diagnoses remained limited across all models. In terms of diagnostic reasoning quality, current models can identify plausible diagnostic directions but still have considerable limitations in generating reliable diagnostic reasoning. Error analysis further identified five representative failure modes: information synthesis failure, knowledge mapping error, perception error, premature closure, and visual hallucination.
Task-Conditional Faithfulness Auditing of Multimodal LLMs for Grid Diagnosis
Multimodal large language models (LLMs) can combine topology, measurements, and incident text for grid diagnosis, yet answer accuracy does not establish that task-appropriate evidence was used. This letter proposes a general framework in order to conduct task-conditional faithfulness audit. It compares self-reported reliance, intervention-derived behavioral reliance, and preregistered engineering importance. The framework first registers task-specific evidence requirements and compares them with self-reported reliance and behavioral changes under controlled modality ablations. To resolve detected discrepancies, we design an evidence-gated correction and re-audit mechanism that regenerates failed responses under evidence constraints and independently re-ablates them to verify improved grounding without performance loss. Case studies evaluate three differently scaled LLMs on IEEE 39- and 118-bus scenarios. These results validate the framework ability to detect, diagnose, and correct task-conditional faithfulness failures.
GraphRareBench: An Auditable Graph-Evidence Benchmark for Phenotype-Driven Rare-Disease Diagnosis
Phenotype-driven diagnostic benchmarks usually report the rank of the reference disease, but they rarely reveal which plausible alternatives are ranked above it or what evidence a tool-using model examines before making its decision. We introduce GraphRareBench, a provenance-preserving benchmark containing 2,365 ontology-derived cases and 18,093 target-confounder pairs. Each case includes a coarsened HPO query, a fixed candidate pool, graph-defined hard confounders, and source-linked evidence records. On the 237-case gene-component-disjoint test split, supervised rankers using a shared 21-feature interface achieved MRRs ranging from 0.640 to 0.740 and case-averaged target-over-confounder accuracies ranging from 0.898 to 0.916. Agents instantiated with Agents-A1 and DeepSeek-V4-Flash achieved MRRs of 0.746 and 0.718, respectively. Their paired MRR difference was not statistically significant, whereas their target-evidence coverage differed by 0.561. Together with the observation that 22.1% to 43.7% of selected Hit@10 successes still ranked at least one graph-defined hard confounder above the target, these results indicate that full-pool retrieval, hard-confounder discrimination, and observable evidence access capture complementary aspects of model behavior. GraphRareBench therefore provides a foundation for more transparent and evidence-aware evaluation of phenotype-driven diagnostic systems. Code and data are available at https://github.com/GUI0609/GraphRareBench.
Wrong Design Intent Is Worse Than Never Conditioning: A Derangement-Control Diagnosis of Header Conditioning in CAD Program Completion
Fine-tuned code LLMs are routinely conditioned on a design-intent specification, but the correctness axis of such a signal -- a wrong intent rather than an absent one -- has not been tested, and the benefit of conditioning is usually scored with the same detector that defines the signal. We study CADCON, a five-feature design-intent header prepended to CadQuery-style programs during LoRA fine-tuning of Qwen2.5-Coder-1.5B, scoring adherence with executable geometric assertions that share no code with the header-defining extractor. On a pre-registered sample of 400 deduplicated held-out programs stratified over eleven intent profiles, at 40% prefix and three seeds, a semantically wrong header degrades adherence below the never-header-trained baseline on 3/3 seeds under both tokenizations at the program level, and on 3/3 token and 2/3 text seeds at the 298 distinct model inputs they present. Wrong-header executability is not depressed relative to that baseline. A derangement control, retrained so every program receives another program's header -- holding the header marginal fixed while destroying its correlation with the program -- saw the same programs, indices and wrong headers. Its correct-to-wrong change is -0.006/+0.016/-0.003 against 0.124/0.241/0.230 for the standard model, and the interaction is significant on 3/3 seeds (p <= 5.9e-7), so the model's sensitivity to whether the header is right or wrong requires the learned mapping. The control sits below the baseline by the same margin under a correct as under a wrong header, so we claim that sensitivity and not the below-baseline level. On features the true intent lacks, the standard model realizes a feature far more often when the wrong header names it; the control does not. Ground truth itself scores only 0.567 here, the scale on which arm levels should be read. Wrong design intent is not inert: it actively misdirects generation.
Compiler-Grounded Hierarchical Diagnosis for LLM-Based Triton Kernel Optimization
Recent advances in large language models (LLMs) have enabled automated kernel generation and optimization, but most existing approaches rely on surface signals such as compilation feedback and profiling metrics. These signals reveal that a kernel is slow, but not why the backend compiler fails to realize a profitable optimization, especially on emerging accelerators such as NPUs. We therefore formulate kernel optimization as a progressive cross-layer diagnosis problem that links runtime symptoms to IR structure and compiler behavior before rewriting source. Based on this insight, we present our system, a compiler-grounded and hierarchical optimization framework for Triton kernels. the system escalates from lightweight pattern triage and profiling diagnosis to IR attribution and compiler-grounded analysis only when deeper evidence is needed, then proposes evidence-backed source-level rewrites. We implement the system on Triton for Ascend NPUs and evaluate it on 37 successfully converted entries from a standardized NPUKernelBench-derived Ascend 950 benchmark. Across these entries, the system attains a geometric-mean speedup of 4.35 and a median speedup of 2.73 from the initial to optimized Triton kernel; 22/37 exceed 2 and 13/37 exceed 5. The complete distribution ranges from near-baseline entries to large wins, motivating transparent reporting of the current system's scope and limitations.
Toward Automated Detection of Documentation Inconsistencies in Electronic Health Records
Objective: To characterize the kinds of internal documentation inconsistencies a general-domain large language model (LLM) can surface from real-world discharge summaries, and to identify recurring failure modes that limit reliability at scale. Materials and Methods: We applied a two-stage LLM pipeline---open-ended candidate identification (Gemini 2.5 Pro) followed by context-grounded verification (Gemini 2.5 Flash)---to 3,000 randomly sampled MIMIC-IV-Note discharge summaries. A subset of the pipeline output was then reviewed manually by clinical experts. Results: Our pipeline surfaced 3,460 candidate inconsistencies, affecting 69.7% of admissions. Representative examples spanned demographics, allergies, procedures, diagnoses, laboratory, medications, and care-planning domains, with direct implications for clinical reasoning or patient safety. Expert review also revealed recurring failure modes that arise when verification requires temporal reasoning, evolving-diagnosis context, or knowledge of outpatient-prescribing conventions the model does not natively possess. Discussion: Detection is highly context-dependent: many flagged pairs require anchoring each statement to its source section and clinical domain, then assessing whether the conflict reflects a true contradiction or missing context. We propose a graded ontology spanning strict contradiction and ambiguity, with a schema characterizing each flagged case by category, section, domain, and inconsistency axis. Conclusion: This formative study establishes a methodological foundation and conceptual framework to guide subsequent validated, large-scale EHR-inconsistency analysis.
Spectral Dynamics of Semantic Drift in Clinical Multi-Agent Language Model Networks
The integration of iterative LLMs within multi-agent diagnostic frameworks requires a rigorous quantitative reevaluation of underlying communication topologies. Frequently used architectural paradigms depend on scale-free or small-world networks, assuming optimal communication efficiency. Our study mathematically dismantles that assumption for semantic data. By mapping multi-agent communication uncertainty trajectories onto a 768-dimensional Bio_ClinicalBERT embedding space via an analytical isotropic variance proxy using Barab'asi--Albert (BA) and Watts--Strogatz (WS) networks, we prove that structural bottlenecks compromise diagnostic safety. Our phase transition matrices illustrate that localized dense cliques confine hallucinated data, preventing global consensus and forcing the system toward a permanent entropy saturation threshold of . As a result, we measure a severe terminal cosine similarity degradation of 53.29%, completely overwriting the original ground-truth. Moreover, the terminal semantic drift reveals a catastrophic variance amplification of 51.81% () in highly clustered architectures, proving total system unpredictability when compared to Erdős--R'enyi configurations (). Instead of reducing errors, hub-centric systems autonomously compound localized hallucinations. By introducing dynamic spectral monitoring operating at an time complexity and imposing a strict lower bound on algebraic connectivity () via the continuous eigen-decomposition of the graph Laplacian, we present a mathematically rigorous technique to ensure global state diffusion. Securing the reliability of autonomous medical diagnostics necessitates treating topological stability as a non-negotiable quantitative imperative.
TwistedMerge: Certified Higher-Order Diagnostics and Abstention for Model Merging
Model merging combines independently trained or fine-tuned models, but pairwise alignability does not imply globally consistent alignment. We formulate merging as a finite descent problem in which checkpoints are local objects, alignment maps are transitions, and cycle products are residuals. TwistedMerge is a conservative certification pipeline that separates fixed-chart averaging, synchronization-removable gauge inconsistency, a certified central obstruction on a specified comparison complex, and nonabelian holonomy. A residual is promoted to a cohomology class only after inverse-consistency, coefficient-identification, centrality, and closure tests; otherwise the method abstains and returns an ordinary or synchronized fallback. We prove a constant-edge no-go result, frozen-complex three-way and predeclared-family error-control theorems, and a refinement test for comparison-complex sensitivity. A planted neural alignment defect is removed by cycle-consistent synchronization, showing that a nonzero cycle score alone is not a higher obstruction. Controlled central systems recover the predicted non-coboundary and projective-rank behavior, while noisy estimates move from certification to abstention without false lifts on the tested controls. A trained low-rank-adapter audit shows that naive factor averaging depends on the chosen GLr representative, whereas global factor synchronization and dense-delta SVD are stable. On natural checkpoint collections, cycle residuals do not predict merge degradation and no natural central or period-index class is certified. The results position descent theory as a falsifiable certification and abstention framework.
Auditing Evidence Use in Medical LLM Diagnosis
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.
Enhancing Explainable Cardiac Diagnosis with Guide-Grounded Multimodal LLMs
The electrocardiogram (ECG) is a cornerstone of cardiac as- sessment, yet clinical deployment of deep learning models remains con- strained by limited interpretability and the hallucination risk of large language models (LLMs). Existing CNN+Grad-CAM+multimodal LLM frameworks can generate ECG reports, but their explanations are often only weakly grounded in established diagnostic criteria, reducing trust- worthiness and reproducibility. We propose a guide-grounded multimodal framework that explicitly anchors report generation in curated clinical knowledge. A convolutional neural network (CNN) and Grad-CAM first produce class probabilities and class-specific heatmaps from 12-lead ECG images. In parallel, authoritative ECG textbooks and guideline materials are distilled offline into a structured ECG Interpretation Guide, which is injected as a fixed knowledge block for every sample. Conditioned on the ECG image, Grad-CAM overlay, CNN-derived fact pack, and the in- jected guide, a multimodal LLM generates structured diagnostic reports with guideline-consistent terminology and criteria usage. Experiments on the full PTB-XL test set demonstrate that guide grounding improves se- mantic quality and perceived consistency of generated reports while pre- serving competitive classification performance. In particular, our method increases the average BERTScore of generated impressions from 0.818 to 0.953 relative to a strong CNN+Grad-CAM+MLLM baseline, indicat- ing closer alignment with reference reports. These findings suggest that injecting a distilled interpretation guide into the multimodal prompting pipeline offers a practical pathway to reduce hallucinations and enhance the clinical plausibility of LLM-based ECG explanations, bringing ex- plainable cardiac diagnosis closer to real-world deployment.
Spatially Grounded Concept Bottleneck Models for Trustworthy Breast Ultrasound Diagnosis
Concept Bottleneck Models provide interpretable-by-design predictions by mediating diagnosis through human-understandable concepts, but in medical imaging, their trustworthiness is often limited by the quality and granularity of available supervision. In particular, predicted concept activations can be driven by irrelevant regions, leading to spatially unfaithful explanations. We study a data-centric spatially grounded Concept Bottleneck Model (SG-CBM) that leverages coarse lesion delineations as weak supervision to encourage anatomically plausible concept evidence. For breast ultrasound, we derive two clinically motivated zones from each lesion mask: (i) an in-lesion region of interest for morphology-related concepts and (ii) a posterior acoustic band for posterior phenomena. We train concept maps using a grouped spatial grounding objective and preserve semantic faithfulness with a linear bottleneck classifier. Across five-fold stratified group cross-validation, the proposed SG-CBM improves diagnostic AUROC and concept macro-AUROC while markedly increasing spatial alignment of concept evidence. We also perform a Train-corrupt/Test-clean annotation-quality stress test to quantify the impact of supervision quality on diagnosis and spatial faithfulness. Overall, the results underscore the need for data-quality-aware supervision design and systematic trustworthiness validation for deployable healthcare AI systems.
Statevector-Referenced Geometry Survival of a Four-Qubit ZZ Quantum Kernel on IBM Quantum Hardware: A Fixed-Subset Diagnostic Across Three Execution Configurations
Quantum-kernel methods encode a dataset's geometry in a Gram matrix, so learning claims on hardware kernels assume the intended geometry survives execution. We measure that survival for one frozen four-qubit ZZ feature-map kernel on real indoor air-quality windows, reconstructed on ibm_fez (1024 shots per circuit) under baseline, dynamical decoupling alone, and gate twirling alone, each a single non-interleaved job. Every configuration returned a complete, finite, positive-semidefinite Gram matrix and preserved the centered statevector geometry to a substantial but incomplete descriptive degree (full-matrix centered kernel alignment, CKA, 0.933-0.989). Gate twirling was most faithful on every reported geometry axis, with the only jackknife-resolved improvement over baseline (persisted Spearman, mean absolute error, and full-matrix CKA diagnostics); dynamical decoupling alone was not separated from baseline at the frozen-window scale. Residual hardware distortion, not finite sampling, dominates the discrepancy. Yet fidelity and label alignment were reversed: the most faithful configuration had the lowest centered kernel-target alignment, which sits at or below label-permutation references for statevector and hardware alike. We read the small hardware uplift as a normalization property of the non-affine distortion, not captured signal. These are descriptive results for single jobs on one backend, not causal mitigation-efficacy estimates; no quantum-advantage, hardware-classifier-superiority, or forecasting claim is made. Implementation fidelity and task relevance are distinct axes; hardware quantum machine-learning studies should report both.
PhenSPINE: A Standardized Benchmark for Spine Pathology Diagnosis
The accurate diagnosis of spinal pathologies depends heavily on radiological interpretation, yet automated systems are hindered by the lack of diverse, high-quality benchmarks. In this study, we present PhenSPINE, a Magnetic Resonance Imaging dataset comprising 16,813 images from 250 patients, curated to facilitate advanced deep learning research. We propose a robust diagnostic benchmark that integrates state-of-theart convolutional backbones with a Positional Encoding mechanism to explicitly model the anatomical context of intervertebral discs. Evaluating across four standard MRI sequences, our experiments demonstrate that the Sagittal T2-weighted sequence offers the most robust diagnostic value, achieving a superior Macro F1-score of 50.31%. We find that multisequence fusion strategies yield inferior performance compared to this single-sequence baseline, as the images across sequences in our dataset are significantly compromised by noise interference from surrounding anatomical regions. This work establishes a robust baseline and offers critical insights into sequence selection for spine analysis.
BRIDGE: Bottleneck-Aware Regulator-Set Inference and Diagnosis for Cooperative Gene Regulatory Recovery
Cooperative gene regulation often depends on groups of regulators acting jointly, but most gene regulatory network (GRN) inference methods output pairwise regulator-target rankings. We introduce Bottleneck-Aware Regulator-Set Inference and Diagnosis (BRIDGE), a framework for complete regulator-set recovery, and Targeted Recovery Attribution for Cooperative Evaluation (TRACE), a diagnostic suite that attributes failures to retrieval, set-level scoring, decoding, and evaluation bottlenecks. TRACE includes a leak-free mechanism-mismatch cooperativity stress test in which cooperative targets are generated by random nonlinear mechanisms rather than product interactions. This design avoids feature-mechanism circularity: Residual higher-order set scoring (Residual HOS2) operates on raw expression vectors without handcrafted product-correlation features. Across 30 matched seed-cooperativity settings, Residual HOS2 improves Jaccard similarity from 0.382 to 0.460, recall from 0.522 to 0.597, and exact recovery from 0.053 to 0.113 over a decomposable pairwise set scorer (PairS2), although exact recovery remains low. On SERGIO DS3, oracle retrieval and TRACE show that candidate coverage is necessary but insufficient because set-level misranking remains the dominant source of exact-recovery failure. PairS2 proposal followed by Residual HOS2 reranking reduces HOS2-scored candidate sets by 94-97% while largely preserving exact-recovery behavior. These results distinguish edge ranking, candidate retrieval, set-level scoring, and exact cooperative regulator-set recovery as separate objectives.
UPAIR: Diagnosing Reasoning States via Uncertainty-Progress Alignment for Selective Intervention
While test-time scaling improves the problem-solving ability of large reasoning models (LRMs) through additional inference-time computation, it can also exacerbate overthinking and underthinking, which we formulate as reasoning state--action mismatch. Resolving this mismatch requires reliable reasoning state diagnosis, yet single-signal monitors provide ambiguous evidence, while steering-based controllers often rely on outcome-labeled supervision or model-specific calibration. We introduce the Uncertainty--Progress Alignment Hypothesis, which posits that the relative transition timing of proxy answer uncertainty and latent reasoning progress distinguishes healthy, stagnant, and ready states that warrant different subsequent actions. Building on this insight, we propose UPAIR, a training-free framework that couples lightweight uncertainty monitoring with event-triggered joint diagnosis and maps the resulting state to native continuation, selective strategy switching, or verification-guided stopping. Across three LRMs and five cross-domain benchmarks, the stagnation diagnosis detects 64.3% of natural errors while flagging only 5.4% of correct samples, revealing a dynamic reasoning regularity shared across models and tasks. End to end, UPAIR improves accuracy by up to 16.67 percentage points and reduces generated tokens by up to 29.64%, demonstrating the effectiveness of its integrated diagnosis and intervention, while online diagnosis costs less than 1% of natural-generation time.
Solver-Hard Is Not Model-Hard: A Hardness-Controlled Diagnostic for LLM Constraint Reasoning
LLM constraint reasoners are often evaluated near the random-SAT phase transition, confounding density and solver hardness. We test instance-level transfer while near-matching clause density. At aligned size bins, with near-matched density and matched maximum clause width, we compare proof-hard expander-Tseitin and proof-easy ladder-Tseitin formulas, pigeonhole anchors, and density-mismatched controls. Theory separates their resolution hardness; a solver-specific Glucose mean-conflict proxy differs by up to , and five other solvers preserve the direction. Across three included models (243 instances each; a fourth is excluded for abstention), the near-matched-density accuracy gaps range from to points, with a pooled gap of points () and a wrong-signed correctness-versus-conflict association (). A proof-preserving relabeling lowers accuracy in all five clusters for one model (mean points) but not another, exposing model-surface sensitivity. In a preregistered extension, provider-reported completion-token spend does not consistently increase with the proxy after accounting for formula length and censoring. At 16k, the reasoning model spends more on proof-easy matched formulas and exhausts its budget on the solver-easiest UNSAT family; the 32k C1 gap is absent. These scoped dissociations concern verdict accuracy and observed token spend, not certificate solving, exact proof length, or allocation efficiency.
Investigation of Polycystic Ovary Syndrome (PCOS) Diagnosis Using Machine Learning Approaches
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.
Anatomically Faithful but Temporally Blind: Auditing Attribution for Left-Ventricular Ejection-Fraction Estimation from Echocardiography
Background and Objective: Deep video models estimate left-ventricular ejection fraction (EF) from echocardiography with near-expert accuracy, and post-hoc attribution (Chefer relevance for transformers, Grad-CAM for CNNs) is increasingly used to certify that models "look at the right place." Yet whether these explanations are faithful both spatially and temporally is unaudited. Because EF is defined by the end-systolic (ES) and end-diastolic (ED) frames, a faithful explanation must localize the left ventricle (space) and the decisive frames (time). Methods: We fine-tune two distinct EF regressors on EchoNet-Dynamic -- a self-supervised VideoMAE transformer and a Kinetics-pretrained R(2+1)D CNN -- and audit each with architecture-matched attribution along three axes: intersection-over-relevance (IoR) against LV masks, deletion AUC, and a temporal localization index on ES/ED frames, each relative to chance with per-case 95% CIs over 50 studies. A tubelet-occlusion probe separates attribution failure from model behavior. Results: Both models are anatomically faithful -- IoR 2.91x (VideoMAE) and 1.98x (R(2+1)D) above chance -- yet temporally blind: temporal localization is indistinguishable from chance (0.97--1.00) and no better than random attribution. Occlusion shows the models do not preferentially rely on ES/ED (0.90x chance), so temporal blindness reflects model behavior, not an attribution artifact. Conclusions: Spatial faithfulness does not imply temporal faithfulness. Attribution can certify anatomical grounding while masking that a model ignores the clinically decisive frames -- a caution for XAI-based validation of video diagnostic models and a call for temporally-aware training and evaluation.
The Geometry of Memorization: Finite-Time Spectral Sensitivity as a Diagnostic for Flow Matching Models
Continuous-time generative frameworks construct probability paths between base and target domains by optimizing time-dependent velocity fields. While theoretical targets favor straight trajectories, empirical networks develop complex path deformations. This paper presents the Finite-Time Spectral Sensitivity (FTSS) g(t), a gradient-free, forward-pass metric that exposes flow geometry by tracking the root-mean-square singular value of the state-transition matrix. Serving as a continuous proxy for stable rank, g(t) reveals a distinct geometric pathology under data scarcity: while generalizing models maintain stable effective dimensions, overfitting causes a spectral collapse. We leverage this structural phenomenon to develop an internal geometric audit based on g(t). Our framework detects generative memorization using purely internal trajectory dynamics, removing the need for external membership queries or baseline data comparison.
AeroMELD: A Linear Embedding of Aerosol Populations for Diagnostics and Latent Dynamics
Accurately representing atmospheric aerosol populations is essential for simulating aerosol-cloud interactions, radiative forcing, and ice nucleation, yet existing reduced schemes impose structural assumptions that limit their ability to capture composition diversity and mixing state. Machine-learning approaches offer more flexible representations, but standard autoencoders do not preserve the mathematical structure of aerosol populations and therefore cannot support physically meaningful process operators. We introduce AeroMELD (Aerosol Measure Embedding for Latent Dynamics), a mathematically grounded framework for constructing low-dimensional latent variables that retain this structure. We show that any permutation-invariant linear encoder must take a scale-shape decomposition, with total number concentration represented explicitly and latent shape given by a barycentric combination of per-particle embeddings. This aggregated latent state retains the diagnostic expressiveness of a Deep Sets model by moving the nonlinear post-aggregation stage into the learned diagnostic map while preserving latent linearity. Using particle-resolved data as ground truth, we encode weighted particle populations directly rather than binned aerosol states; size-resolved mass and number distributions serve only as diagnostic targets and visual summaries. The latent space accurately reconstructs these distributions, CCN spectra, optical coefficients, and immersion-freezing behavior while preserving the linear population structure needed for hybrid ML-physics models. Although the experiments focus on diagnostic reconstruction, the embedding is designed so that emissions and mixing can be represented exactly and nonlinear microphysical processes learned in a controlled latent space. This work establishes a foundation for learning aerosol-process evolution directly in latent space.
Diagnosing and Mitigating Thinking Collapse in On-Policy Self-Distillation
On-Policy Self-Distillation (OPSD) has emerged as a crucial paradigm for enhancing and aligning Large Language Models (LLMs). However, in complex reasoning tasks, OPSD paradoxically degrades downstream performance. In this paper, we systematically investigate this pathology and identify a severe optimization trap we define as \textbf{Thinking Collapse} -- a sharp decline in the model's native intermediate reasoning behavior, measured by epistemic-token density (ET per 1k). Through entropy-based gradient masking and token-level target analysis, we show that this collapse is triggered by aggressive teacher gradients at high-student-entropy decision forks, where student epistemic tokens are frequently suppressed into teacher non-epistemic targets and are highly concentrated in high pointwise student-teacher divergence regions. To resolve this optimization pathology, we propose \textbf{Adaptive Dual-Perspective OPSD (AD-OPSD)}, a robust control framework that dynamically moderates the self-distillation objective. AD-OPSD selectively anchors high-suppression-risk sandboxed tokens to a reference prior derived from the frozen base model via an asymmetrical pointwise divergence gate, preserving native thinking capacity while retaining OPSD's error-correcting power. Extensive experiments across competitive mathematical benchmarks show that AD-OPSD improves over standard OPSD by up to \textbf{+4.1%} absolute average accuracy across diverse model scales and datasets. Further analysis demonstrates that AD-OPSD mitigates thinking collapse and generalizes robustly to different post-training paradigms.
Policy-Driven CT-Agent: Modeling Phase-Aware Diagnostic Control for Clinically Consistent CT Reasoning
Computed Tomography (CT) diagnosis often relies on dynamic selection of imaging phases, such as non-contrast, arterial, or venous phases, based on preliminary findings, clinical suspicion, and diagnostic guidelines. This phase-wise decision process is critical for reducing unnecessary radiation exposure while supporting timely staging and treatment planning. However, phase-selection protocols can vary across hospitals, regions, and guidelines, while most existing CT-based AI methods assume that all phases are available and focus on static tasks under a fixed imaging phase, failing to model whether additional phases are required. This limitation stems from heterogeneous multi-phase representations, the need for knowledge-guided phase control beyond visual cues, and the lack of supervision for phase-sufficiency decisions in existing datasets. To address these challenges, we propose Policy-Driven CT-Agent (PD-CTAgent) for clinically consistent CT phase selection and diagnostic reasoning. PD-CTAgent introduces a Clinical Structure Abstraction Module (CSAM) to harmonize heterogeneous CT phases into a unified, phase-aware evidence representation. Based on this representation, a Knowledge-Guided Diagnostic Control Model (KDCM) evaluates phase sufficiency and iteratively requests additional phases when necessary. The policy-driven agent design further allows PD-CTAgent to flexibly follow different institutional, regional, or guideline-specific diagnostic protocols. Together, PD-CTAgent bridges static CT analysis and real-world clinical workflows. Experiments on two public datasets, LIDC and MCT-LTDiag, and one private dataset demonstrate its effectiveness and clinical consistency. Code will be made public upon acceptance.
Information-seeking failures of large language models in agentic clinical reasoning
Large language models achieve high scores on medical knowledge assessments, yet clinical reasoning requires actively deciding what to investigate under uncertainty. We developed an agentic evaluation framework in hematologic oncology in which models must proactively request clinical data across three sequential rounds before committing to a diagnosis and treatment plan. Across 32 frontier models, the best achieved only 68% overall accuracy. Information utilization, the fraction of available data actually requested, was the strongest predictor of diagnostic accuracy (R = 0.69, P < 0.001), yet utilization collapsed from 57% to 26% in the final round, leaving molecular and cytogenetic data critical for treatment selection unexamined. Reasoning traces scored high on a clinical reasoning rubric (91% above threshold) but decorrelated from accuracy, revealing a gap between locally coherent rationales and globally correct conclusions. Error analysis identified search satisficing, anchoring and premature closure as the dominant failure modes, the same cognitive biases that characterize novice clinicians under dual-process models of diagnostic reasoning. These findings demonstrate that the primary limitation of current models in clinical oncology is not insufficient medical knowledge but a systematic failure of information-seeking under uncertainty.
What Does Your Short-Answer VQA Score Actually Measure? Evaluator-Dependent Instability in Multimodal Short-Answer Benchmarks
Short-answer VQA benchmarks conflate two distinct quantities: whether a model's answer is semantically correct, and whether that answer matches the surface form expected by the automatic evaluator. We study this conflation across six vision--language models and six benchmarks, using a human-validated semantic judge (97.6% precision) to audit over 37k official errors. A second text-only judge reproduces the same benchmark-level false-negative pattern, showing that the effect is not an artifact of a single audit model. On text-rich benchmarks, up to half of these errors are semantically acceptable answers penalized purely for surface-form mismatch. This instability is structured by answer type: extractive and multi-span answers are far more evaluator-sensitive than scalar answers. Benign prompt and context rewrites further destabilize official outcomes, flipping item-level correctness at substantial rates without changing the underlying task. A deterministic CPU-only contract repair confirms that the undercount is partially recoverable. These findings imply that official short-answer VQA scores should be accompanied by semantic audits and answer-type diagnostics to remain interpretable.
Artificial Intelligence Across the Cardiac Amyloidosis Diagnostic Pathway: From Single-Modality Detection to Multimodal Clinical Integration
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.
SAGEAgent: A Self-Evolving Agent for Cost-Aware Modality Acquisition in Multimodal Survival Prediction
Does every cancer patient truly need a complete diagnostic workup for accurate survival prediction? In multimodal clinical oncology, diagnostic modalities follow a clinically mandated order of escalating burden -- from demographics collected at intake to genomic profiling requiring specialized tissue analysis. Current multimodal survival methods either assume all modalities are available or passively handle missing data, but none actively reason about whether acquiring the next modality is justified for a given patient along this ordered workflow. We formulate this as a sequential decision problem and propose SAGEAgent (Sequential Acquisition Guided by Experience), a self-evolving LLM-based clinical agent that decides which diagnostic modalities to acquire for each patient, balancing predictive accuracy against clinical invasiveness. SAGEAgent reasons about each patient's evolving diagnostic state through clinical tools that translate numerical predictions into text, an episodic memory that retrieves similar past cases, and a semantic memory that accumulates reusable decision patterns from experience. Experiments on a glioma cohort combining TCGA-LGG, TCGA-GBM, and BraTS with four diagnostic modalities demonstrate that SAGEAgent achieves competitive survival prediction accuracy while reducing average acquisition burden by 55%.