Organizations: School of Computer Science, Chongqing University, Chongqing, China · AI Research Institution, Mashang Financial Institution · Department of Information, Third Military Medical University
Abstract
Diagnosing pulmonary diseases requires integrating heterogeneous evidence amid phenotypic variability and cross-disease overlap. Although large language models (LLMs) have shown progress on pulmonary knowledge question answering (QA) and information-processing tasks, reliable pulmonary diagnosis requires patient-specific, relation-aware reasoning over electronic medical record (EMR) evidence rather than isolated knowledge recall. We define this gap between pulmonary knowledge and case-level diagnostic reasoning as the Pulmonary Knowledge-to-Diagnosis Gap. To address it, we introduce LungKG, the first structured pulmonary knowledge graph for diagnostic knowledge organization and record-grounded reasoning. LungKG contains 59,038 nodes and 164,308 edges across 15 entity types and 112 relation types, serving as both a reusable pulmonary knowledge resource and the foundation for LungKG-guided model adaptation. Built on LungKG, we propose Lung-R1, a LungKG-guided pulmonary LLM trained through KG-constrained reasoning-chain construction and KG-guided reinforcement learning. In a 20-system evaluation, Lung-R1-14B achieves state-of-the-art performance across Choice, Pulmonary-QA, and EMR Diagnosis, reaching an EMR Diagnosis score of 4.3583 and surpassing the strongest non-Lung-R1 baseline by 0.1476 points. These results demonstrate the value of LungKG-guided training for EMR-based pulmonary diagnosis.
Modern large language models (LLMs) reach 60-70% diagnostic accuracy on complex clinical case benchmarks, but accuracy alone cannot distinguish stable clinically-grounded reasoning from pattern matching. We introduce clinical reasoning graphs, structured graph representations extracted from free-text LLM diagnostic traces using a domain-grounded ontology with 5 node types and 7 edge types. We apply this pipeline to 750 traces from five LLMs across 50 New England Journal of Medicine Clinicopathological Conference cases and three prompt conditions, and test whether diagnostic traces show stable structured reasoning patterns, or diagnostic schemas, for clinically similar cases. We operationalize this as higher graph similarity among clinically similar cases than among clinically dissimilar ones. Across 15 model-condition comparisons, within-cluster and between-cluster composite similarity are nearly equal, and no comparison survives multiple-testing correction; a component-level analysis finds any residual content signal far below schema scale. Graph similarity is also nearly identical for pairs of models that are both correct (0.488) and both incorrect (0.484), suggesting that graph structure captures a dimension not reflected in diagnostic accuracy. Structured reflection prompting increases explicit discriminating-feature analysis within traces (+33%) but does not increase cross-case consistency. These results show diagnostic competence without schema-scale reasoning consistency, and indicate that final-answer accuracy should be complemented by process-level evaluation. We release the ontology, extraction pipeline, validation protocol, and the extracted reasoning graphs and similarity artifacts as resources for structured evaluation of LLM 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.
Pulmonary embolism (PE) is a high risk cardiopulmonary condition whose management requires both timely diagnosis and reliable assessment of future clinical risk. Because PE care routinely combines computed tomography pulmonary angiography (CTPA), radiology interpretation, and longitudinal electronic health record (EHR) evidence, it provides a clinically meaningful setting for evaluating compact multimodal language models. In this work, we build a benchmark using efficient multimodal large language models (MLLMs) on INSPECT, a multimodal PE dataset containing 23,248 CTPA studies from 19,402 patients. We formulate eight diagnostic and prognostic tasks as structured clinical question answering problems and evaluate on typical efficient MLLMs under CTPA-Only, EHR-Only, and CTPA+EHR settings with zero-shot and few-shot prompting. Results show that Gemma4 E4B and Gemma4 E2B perform more strongly when EHR evidence is available, especially under CTPA+EHR input. Task level analysis further shows that PE diagnosis achieves higher performance than prognostic tasks, particularly readmission prediction. These observations suggest that compact multimodal models have the great potential in early stage PE risk detection and explanation.