Diagnosis
Bridging the Unavoidable A Priori: A Framework for Comparative Causal Modeling
Hovmand, Peter S., O'Donnell, Kari, Ogland-Hand, Callie, Biroscak, Brian, Gunzler, Douglas D.
AI/ML models have rapidly gained prominence as innovations for solving previously unsolved problems and their unintended consequences from amplifying human biases. Advocates for responsible AI/ML have sought ways to draw on the richer causal models of system dynamics to better inform the development of responsible AI/ML. However, a major barrier to advancing this work is the difficulty of bringing together methods rooted in different underlying assumptions (i.e., Dana Meadow's "the unavoidable a priori"). This paper brings system dynamics and structural equation modeling together into a common mathematical framework that can be used to generate systems from distributions, develop methods, and compare results to inform the underlying epistemology of system dynamics for data science and AI/ML applications.
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- Europe > Germany > Hesse > Darmstadt Region > Darmstadt (0.04)
- Health & Medicine (1.00)
- Law (0.67)
- Government > Regional Government > North America Government > United States Government (0.46)
- Information Technology > Artificial Intelligence > Machine Learning (1.00)
- Information Technology > Artificial Intelligence > Representation & Reasoning > Diagnosis (0.34)
Causality Without Causal Models
Halpern, Joseph Y., Pass, Rafael
Perhaps the most prominent current definition of (actual) causality is due to Halpern and Pearl. It is defined using causal models (also known as structural equations models). We abstract the definition, extracting its key features, so that it can be applied to any other model where counterfactuals are defined. By abstracting the definition, we gain a number of benefits. Not only can we apply the definition in a wider range of models, including ones that allow, for example, backtracking, but we can apply the definition to determine if A is a cause of B even if A and B are formulas involving disjunctions, negations, beliefs, and nested counterfactuals (none of which can be handled by the Halpern-Pearl definition). Moreover, we can extend the ideas to getting an abstract definition of explanation that can be applied beyond causal models. Finally, we gain a deeper understanding of features of the definition even in causal models.
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- North America > United States > Massachusetts > Middlesex County > Cambridge (0.04)
- North America > United States > New Jersey > Mercer County > Princeton (0.04)
Profile Generators: A Link between the Narrative and the Binary Matrix Representation
Kutil, Raoul H., Zimmermann, Georg, Strasser-Kirchweger, Barbara, Borgelt, Christian
Mental health disorders, particularly cognitive disorders defined by deficits in cognitive abilities, are described in detail in the DSM-5, which includes definitions and examples of signs and symptoms. A simplified, machine-actionable representation was developed to assess the similarity and separability of these disorders, but it is not suited for the most complex cases. Generating or applying a full binary matrix for similarity calculations is infeasible due to the vast number of symptom combinations. This research develops an alternative representation that links the narrative form of the DSM-5 with the binary matrix representation and enables automated generation of valid symptom combinations. Using a strict pre-defined format of lists, sets, and numbers with slight variations, complex diagnostic pathways involving numerous symptom combinations can be represented. This format, called the symptom profile generator (or simply generator), provides a readable, adaptable, and comprehensive alternative to a binary matrix while enabling easy generation of symptom combinations (profiles). Cognitive disorders, which typically involve multiple diagnostic criteria with several symptoms, can thus be expressed as lists of generators. Representing several psychotic disorders in generator form and generating all symptom combinations showed that matrix representations of complex disorders become too large to manage. The MPCS (maximum pairwise cosine similarity) algorithm cannot handle matrices of this size, prompting the development of a profile reduction method using targeted generator manipulation to find specific MPCS values between disorders. The generators allow easier creation of binary representations for large matrices and make it possible to calculate specific MPCS cases between complex disorders through conditional generators.
- Europe > Austria > Salzburg > Salzburg (0.05)
- North America > United States > New York > New York County > New York City (0.04)
- Health & Medicine > Therapeutic Area > Psychiatry/Psychology (1.00)
- Health & Medicine > Therapeutic Area > Neurology (1.00)
- Information Technology > Artificial Intelligence > Representation & Reasoning > Diagnosis (1.00)
- Information Technology > Artificial Intelligence > Natural Language (1.00)
- Information Technology > Artificial Intelligence > Machine Learning (1.00)
- Information Technology > Artificial Intelligence > Cognitive Science (0.87)
HiFiNet: Hierarchical Fault Identification in Wireless Sensor Networks via Edge-Based Classification and Graph Aggregation
Van Son, Nguyen, Nghia, Nguyen Tri, Hanh, Nguyen Thi, Binh, Huynh Thi Thanh
Wireless Sensor Networks (WSN) are the backbone of essential monitoring applications, but their deployment in unfavourable conditions increases the risk to data integrity and system reliability. Traditional fault detection methods often struggle to effectively balance accuracy and energy consumption, and they may not fully leverage the complex spatio-temporal correlations inherent in WSN data. In this paper, we introduce HiFiNet, a novel hierarchical fault identification framework that addresses these challenges through a two-stage process. Firstly, edge classifiers with a Long Short-Term Memory (LSTM) stacked autoencoder perform temporal feature extraction and output initial fault class prediction for individual sensor nodes. Using these results, a Graph Attention Network (GAT) then aggregates information from neighboring nodes to refine the classification by integrating the topology context. Our method is able to produce more accurate predictions by capturing both local temporal patterns and network-wide spatial dependencies. To validate this approach, we constructed synthetic WSN datasets by introducing specific, predefined faults into the Intel Lab Dataset and NASA's MERRA-2 reanalysis data. Experimental results demonstrate that HiFiNet significantly outperforms existing methods in accuracy, F1-score, and precision, showcasing its robustness and effectiveness in identifying diverse fault types. Furthermore, the framework's design allows for a tunable trade-off between diagnostic performance and energy efficiency, making it adaptable to different operational requirements.
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- Information Technology > Communications > Networks > Sensor Networks (1.00)
- Information Technology > Artificial Intelligence > Representation & Reasoning > Diagnosis (1.00)
- Information Technology > Artificial Intelligence > Machine Learning > Neural Networks > Deep Learning (0.93)
Clinician-in-the-Loop Smart Home System to Detect Urinary Tract Infection Flare-Ups via Uncertainty-Aware Decision Support
Ugwu, Chibuike E., Fritz, Roschelle, Cook, Diane J., Doppa, Janardhan Rao
Urinary tract infection (UTI) flare-ups pose a significant health risk for older adults with chronic conditions. These infections often go unnoticed until they become severe, making early detection through innovative smart home technologies crucial. Traditional machine learning (ML) approaches relying on simple binary classification for UTI detection offer limited utility to nurses and practitioners as they lack insight into prediction uncertainty, hindering informed clinical decision-making. This paper presents a clinician-in-the-loop (CIL) smart home system that leverages ambient sensor data to extract meaningful behavioral markers, train robust predictive ML models, and calibrate them to enable uncertainty-aware decision support. The system incorporates a statistically valid uncertainty quantification method called Conformal-Calibrated Interval (CCI), which quantifies uncertainty and abstains from making predictions ("I don't know") when the ML model's confidence is low. Evaluated on real-world data from eight smart homes, our method outperforms baseline methods in recall and other classification metrics while maintaining the lowest abstention proportion and interval width. A survey of 42 nurses confirms that our system's outputs are valuable for guiding clinical decision-making, underscoring their practical utility in improving informed decisions and effectively managing UTIs and other condition flare-ups in older adults.
- North America > United States > California > San Francisco County > San Francisco (0.14)
- North America > United States > Washington (0.04)
- North America > United States > California > Yolo County > Davis (0.04)
- North America > Canada > Quebec > Montreal (0.04)
- Research Report > New Finding (1.00)
- Questionnaire & Opinion Survey (0.94)
- Information Technology > Artificial Intelligence > Machine Learning (1.00)
- Information Technology > Artificial Intelligence > Representation & Reasoning > Diagnosis (0.82)
Variable Importance Using Decision Trees
Decision trees and random forests are well established models that not only offer good predictive performance, but also provide rich feature importance information. While practitioners often employ variable importance methods that rely on this impurity-based information, these methods remain poorly characterized from a theoretical perspective. We provide novel insights into the performance of these methods by deriving finite sample performance guarantees in a high-dimensional setting under various modeling assumptions. We further demonstrate the effectiveness of these impurity-based methods via an extensive set of simulations.
- Information Technology > Artificial Intelligence > Machine Learning > Decision Tree Learning (1.00)
- Information Technology > Artificial Intelligence > Representation & Reasoning > Diagnosis (0.70)
IMACT-CXR - An Interactive Multi-Agent Conversational Tutoring System for Chest X-Ray Interpretation
Le, Tuan-Anh, Vu, Anh Mai, Yang, David, Awasthi, Akash, Van Nguyen, Hien
IMACT-CXR is an interactive multi-agent conversational tutor that helps trainees interpret chest X-rays by unifying spatial annotation, gaze analysis, knowledge retrieval, and image-grounded reasoning in a single AutoGen-based workflow. The tutor simultaneously ingests learner bounding boxes, gaze samples, and free-text observations. Specialized agents evaluate localization quality, generate Socratic coaching, retrieve PubMed evidence, suggest similar cases from REFLACX, and trigger NV-Reason-CXR-3B for vision-language reasoning when mastery remains low or the learner explicitly asks. Bayesian Knowledge Tracing (BKT) maintains skill-specific mastery estimates that drive both knowledge reinforcement and case similarity retrieval. A lung-lobe segmentation module derived from a TensorFlow U-Net enables anatomically aware gaze feedback, and safety prompts prevent premature disclosure of ground-truth labels. We describe the system architecture, implementation highlights, and integration with the REFLACX dataset for real DICOM cases. IMACT-CXR demonstrates responsive tutoring flows with bounded latency, precise control over answer leakage, and extensibility toward live residency deployment. Preliminary evaluation shows improved localization and diagnostic reasoning compared to baselines.
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- North America > United States > Georgia > Fulton County > Atlanta (0.04)
- Information Technology > Artificial Intelligence > Machine Learning (1.00)
- Information Technology > Artificial Intelligence > Natural Language > Large Language Model (0.49)
- Information Technology > Artificial Intelligence > Representation & Reasoning > Diagnosis (0.36)
Multi-Layered Gradient Boosting Decision Trees
Multi-layered distributed representation is believed to be the key ingredient of deep neural networks especially in cognitive tasks like computer vision. While non-differentiable models such as gradient boosting decision trees (GBDTs) are still the dominant methods for modeling discrete or tabular data, they are hard to incorporate with such representation learning ability. In this work, we propose the multi-layered GBDT forest (mGBDTs), with an explicit emphasis on exploring the ability to learn hierarchical distributed representations by stacking several layers of regression GBDTs as its building block. The model can be jointly trained by a variant of target propagation across layers, without the need to derive backpropagation nor differentiability. Experiments confirmed the effectiveness of the model in terms of performance and representation learning ability.
- Information Technology > Artificial Intelligence > Machine Learning > Neural Networks (1.00)
- Information Technology > Artificial Intelligence > Representation & Reasoning > Diagnosis (0.68)
- Information Technology > Artificial Intelligence > Machine Learning > Ensemble Learning (0.68)
- Information Technology > Artificial Intelligence > Machine Learning > Decision Tree Learning (0.68)
Skin-R1: Toward Trustworthy Clinical Reasoning for Dermatological Diagnosis
Liu, Zehao, Ren, Wejieying, Zhang, Jipeng, Zhao, Tianxiang, Zhu, Jingxi, Li, Xiaoting, Honavar, Vasant G.
The emergence of vision-language models (VLMs) has opened new possibilities for clinical reasoning and has shown promising performance in dermatological diagnosis. However, their trustworthiness and clinical utility are often limited by three major factors: (1) Data heterogeneity, where diverse datasets lack consistent diagnostic labels and clinical concept annotations; (2) Absence of grounded diagnostic rationales, leading to a scarcity of reliable reasoning supervision; and (3) Limited scalability and generalization, as models trained on small, densely annotated datasets struggle to transfer nuanced reasoning to large, sparsely-annotated ones. To address these limitations, we propose SkinR1, a novel dermatological VLM that combines deep, textbook-based reasoning with the broad generalization capabilities of reinforcement learning (RL). SkinR1 systematically resolves the key challenges through a unified, end-to-end framework. First, we design a textbook-based reasoning generator that synthesizes high-fidelity, hierarchy-aware, and differential-diagnosis (DDx)-informed trajectories, providing reliable expert-level supervision. Second, we leverage the constructed trajectories for supervised fine-tuning (SFT) empowering the model with grounded reasoning ability. Third, we develop a novel RL paradigm that, by incorporating the hierarchical structure of diseases, effectively transfers these grounded reasoning patterns to large-scale, sparse data. Extensive experiments on multiple dermatology datasets demonstrate that SkinR1 achieves superior diagnostic accuracy. The ablation study demonstrates the importance of the reasoning foundation instilled by SFT.
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- North America > United States > California > Santa Clara County > Palo Alto (0.04)
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- Health & Medicine > Therapeutic Area > Oncology (1.00)
- Health & Medicine > Therapeutic Area > Dermatology (1.00)
- Health & Medicine > Diagnostic Medicine > Imaging (1.00)
- Information Technology > Sensing and Signal Processing > Image Processing (1.00)
- Information Technology > Artificial Intelligence > Vision (1.00)
- Information Technology > Artificial Intelligence > Representation & Reasoning > Diagnosis (1.00)
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A Specialized Large Language Model for Clinical Reasoning and Diagnosis in Rare Diseases
Yang, Tao, Huang, Dandan, Lin, Yunting, Wu, Pengfei, Wu, Zhikun, Ma, Gangyuan, Lu, Yulan, Dong, Xinran, Li, Dingpeng, Ge, Junshuang, Zhang, Zhiyan, Huang, Xuanzhao, Nong, Wenyan, Zhou, Yao, Tang, Hui, Yang, Hongxi, Zhang, Shijie, Li, Juan, Cao, Xiaojun, Yang, Lin, Gao, Xia, Xu, Kaishou, Gu, Xiaoqiong, Zhang, Wen, Xia, Huimin, Liu, Li, Zhou, Wenhao, Li, Mulin Jun
W e assemble a large, domain - specialized clinical corpus and a clinician - validated reasoning set, and develop RareSeek - R1 via staged instruction tuning, chain - of - thought learning, and graph - grounded retrieval. Across multicenter EHR narratives and public benchmarks, RareSeek - R1 attains state - of - the - art accuracy, robust generalization, and stability under noisy or overlapping phenotypes. Augmented retrieval yields the largest gains when narratives pair with prioritized variants by resolving ambiguity and aligning candidates to mechanisms. Human studies show performance on par with experienced physicians and consistent gains in assistive use. Notably, transparent reasoning highlights decisive non - phenotypic evidence (median 23.1%, such as imaging, interventions, functional tests) underpinning many correct diagnoses. This work advances a narrative - first, knowledge - integrated reasoning paradigm that shortens the diagnostic odyssey and enables auditable, clinically translatable decision support.
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- Research Report > Experimental Study (1.00)
- Information Technology > Artificial Intelligence > Natural Language > Large Language Model (1.00)
- Information Technology > Artificial Intelligence > Natural Language > Chatbot (1.00)
- Information Technology > Artificial Intelligence > Machine Learning > Neural Networks > Deep Learning (1.00)
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