Machine-learning for photoplethysmography analysis: Benchmarking feature, image, and signal-based approaches

Photoplethysmography (PPG) is a widely used non-invasive physiological sensing technique, suitable for various clinical applications. Such clinical applications are increasingly supported by machine learning methods, raising the question of the most appropriate input representation and model choice. Comprehensive comparisons, in particular across different input representations, are scarce. We address this gap in the research landscape by a comprehensive benchmarking study covering three kinds of input representations, interpretable features, image representations and raw waveforms, across prototypical regression and classification use cases: blood pressure and atrial fibrillation prediction. In both cases, the best results are achieved by deep neural networks operating on raw time series as input representations. Within this model class, best results are achieved by modern convolutional neural networks (CNNs). but depending on the task setup, shallow CNNs are often also very competitive. We envision that these results will be insightful for researchers to guide their choice on machine learning tasks for PPG data, even beyond the use cases presented in this work.

Generalizable deep learning for photoplethysmography-based blood pressure estimation -- A Benchmarking Study

Photoplethysmography (PPG)-based blood pressure (BP) estimation represents a promising alternative to cuff-based BP measurements. Recently, an increasing number of deep learning models have been proposed to infer BP from the raw PPG waveform. However, these models have been predominantly evaluated on in-distribution test sets, which immediately raises the question of the generalizability of these models to external datasets. To investigate this question, we trained five deep learning models on the recently released PulseDB dataset, provided in-distribution benchmarking results on this dataset, and then assessed out-of-distribution performance on several external datasets. The best model (XResNet1d101) achieved in-distribution MAEs of 9.4 and 6.0 mmHg for systolic and diastolic BP respectively on PulseDB (with subject-specific calibration), and 14.0 and 8.5 mmHg respectively without calibration. Equivalent MAEs on external test datasets without calibration ranged from 15.0 to 25.1 mmHg (SBP) and 7.0 to 10.4 mmHg (DBP). Our results indicate that the performance is strongly influenced by the differences in BP distributions between datasets. We investigated a simple way of improving performance through sample-based domain adaptation and put forward recommendations for training models with good generalization properties. With this work, we hope to educate more researchers for the importance and challenges of out-of-distribution generalization.

Benchmarking machine learning for bowel sound pattern classification from tabular features to pretrained models

The development of electronic stethoscopes and wearable recording sensors opened the door to the automated analysis of bowel sound (BS) signals. This enables a data-driven analysis of bowel sound patterns, their interrelations, and their correlation to different pathologies. This work leverages a BS dataset collected from 16 healthy subjects that was annotated according to four established BS patterns. This dataset is used to evaluate the performance of machine learning models to detect and/or classify BS patterns. The selection of considered models covers models using tabular features, convolutional neural networks based on spectrograms and models pre-trained on large audio datasets. The results highlight the clear superiority of pre-trained models, particularly in detecting classes with few samples, achieving an AUC of 0.89 in distinguishing BS from non-BS using a HuBERT model and an AUC of 0.89 in differentiating bowel sound patterns using a Wav2Vec 2.0 model. These results pave the way for an improved understanding of bowel sounds in general and future machine-learning-driven diagnostic applications for gastrointestinal examinations

Explainable and externally validated machine learning for neuropsychiatric diagnosis via electrocardiograms

Electrocardiogram (ECG) analysis has emerged as a promising tool for identifying physiological changes associated with neuropsychiatric conditions. The relationship between cardiovascular health and neuropsychiatric disorders suggests that ECG abnormalities could serve as valuable biomarkers for more efficient detection, therapy monitoring, and risk stratification. However, the potential of the ECG to accurately distinguish neuropsychiatric conditions, particularly among diverse patient populations, remains underexplored. This study utilized ECG markers and basic demographic data to predict neuropsychiatric conditions using machine learning models, with targets defined through ICD-10 codes. Both internal and external validation were performed using the MIMIC-IV and ECG-View datasets respectively. Performance was assessed using AUROC scores. To enhance model interpretability, Shapley values were applied to provide insights into the contributions of individual ECG features to the predictions. Significant predictive performance was observed for conditions within the neurological and psychiatric groups. For the neurological group, Alzheimer's disease (G30) achieved an internal AUROC of 0.813 (0.812-0.814) and an external AUROC of 0.868 (0.867-0.868). In the psychiatric group, unspecified dementia (F03) showed an internal AUROC of 0.849 (0.848-0.849) and an external AUROC of 0.862 (0.861-0.863). Discriminative features align with known ECG markers but also provide hints on potentially new markers. ECG offers significant promise for diagnosing and monitoring neuropsychiatric conditions, with robust predictive performance across internal and external cohorts. Future work should focus on addressing potential confounders, such as therapy-related cardiotoxicity, and expanding the scope of ECG applications, including personalized care and early intervention strategies.

Explainable machine learning for neoplasms diagnosis via electrocardiograms: an externally validated study

Background: Neoplasms remains a leading cause of mortality worldwide, with timely diagnosis being crucial for improving patient outcomes. Current diagnostic methods are often invasive, costly, and inaccessible to many populations. Electrocardiogram (ECG) data, widely available and non-invasive, has the potential to serve as a tool for neoplasms diagnosis by using physiological changes in cardiovascular function associated with neoplastic prescences. Methods: This study explores the application of machine learning models to analyze ECG features for the diagnosis of neoplasms. We developed a pipeline integrating tree-based models with Shapley values for explainability. The model was trained and internally validated and externally validated on a second large-scale independent external cohort to ensure robustness and generalizability. Findings: The results demonstrate that ECG data can effectively capture neoplasms-associated cardiovascular changes, achieving high performance in both internal testing and external validation cohorts. Shapley values identified key ECG features influencing model predictions, revealing established and novel cardiovascular markers linked to neoplastic conditions. This non-invasive approach provides a cost-effective and scalable alternative for the diagnosis of neoplasms, particularly in resource-limited settings. Similarly, useful for the management of secondary cardiovascular effects given neoplasms therapies. Interpretation: This study highlights the feasibility of leveraging ECG signals and machine learning to enhance neoplasms diagnostics. By offering interpretable insights into cardio-neoplasms interactions, this approach bridges existing gaps in non-invasive diagnostics and has implications for integrating ECG-based tools into broader neoplasms diagnostic frameworks, as well as neoplasms therapy management.

Beyond Scalars: Concept-Based Alignment Analysis in Vision Transformers

Vision transformers (ViTs) can be trained using various learning paradigms, from fully supervised to self-supervised. Diverse training protocols often result in significantly different feature spaces, which are usually compared through alignment analysis. However, current alignment measures quantify this relationship in terms of a single scalar value, obscuring the distinctions between common and unique features in pairs of representations that share the same scalar alignment. We address this limitation by combining alignment analysis with concept discovery, which enables a breakdown of alignment into single concepts encoded in feature space. This fine-grained comparison reveals both universal and unique concepts across different representations, as well as the internal structure of concepts within each of them. Our methodological contributions address two key prerequisites for concept-based alignment: 1) For a description of the representation in terms of concepts that faithfully capture the geometry of the feature space, we define concepts as the most general structure they can possibly form - arbitrary manifolds, allowing hidden features to be described by their proximity to these manifolds. 2) To measure distances between concept proximity scores of two representations, we use a generalized Rand index and partition it for alignment between pairs of concepts. We confirm the superiority of our novel concept definition for alignment analysis over existing linear baselines in a sanity check. The concept-based alignment analysis of representations from four different ViTs reveals that increased supervision correlates with a reduction in the semantic structure of learned representations.

Electrocardiogram-based diagnosis of liver diseases: an externally validated and explainable machine learning approach

Background: Liver diseases are a major global health concern, often diagnosed using resource-intensive methods. Electrocardiogram (ECG) data, widely accessible and non-invasive, offers potential as a diagnostic tool for liver diseases, leveraging the physiological connections between cardiovascular and hepatic health. Methods: This study applies machine learning models to ECG data for the diagnosis of liver diseases. The pipeline, combining tree-based models with Shapley values for explainability, was trained, internally validated, and externally validated on an independent cohort, demonstrating robust generalizability. Findings: Our results demonstrate the potential of ECG to derive biomarkers to diagnose liver diseases. Shapley values revealed key ECG features contributing to model predictions, highlighting already known connections between cardiovascular biomarkers and hepatic conditions as well as providing new ones. Furthermore, our approach holds promise as a scalable and affordable solution for liver disease detection, particularly in resource-limited settings. Interpretation: This study underscores the feasibility of leveraging ECG features and machine learning to enhance the diagnosis of liver diseases. By providing interpretable insights into cardiovascular-liver interactions, the approach bridges existing gaps in non-invasive diagnostics, offering implications for broader systemic disease monitoring.

CardioLab: Laboratory Values Estimation and Monitoring from Electrocardiogram Signals -- A Multimodal Deep Learning Approach

Background: Laboratory values are fundamental to medical diagnosis and management, but acquiring these values can be costly, invasive, and time-consuming. While electrocardiogram (ECG) patterns have been linked to certain laboratory abnormalities, the comprehensive modeling of these relationships remains underexplored. Methods: We utilize MIMIC-IV dataset to develop multimodal deep-learning models to demonstrate the feasibility of estimating (real-time) and monitoring (predict at future intervals) laboratory value abnormalities from ECG waveforms, demographics, biometrics, and vital signs. Results: The models exhibit a strong predictive performance with AUROC scores above 0.70 in a statistically significant manner for 23 laboratory values in the estimation setting and up to 26 values in the monitoring setting. Most notably, the accurately predictable values encompassing abnormalities across diverse physiological categories such as cardiac, renal, hematological, metabolic, immunological and coagulation. To name examples, for estimation NTproBNP (>353 pg/mL) with 0.882, whereas for monitoring at 30 minutes Urea nitrogen (<6 mg/dL) with 0.851, at 60 minutes creatinine (<0.5 mg/dL) with 0.85, and at 120 minutes hemoglobin (>17.5 g/dL) with 0.821. Conclusions: This study provides first evidence for the feasibility of using ECG data alongside clinical routine data for the real-time estimation and monitoring of laboratory value abnormalities, which could provide a non-invasive, cost-effective supplement to traditional laboratory testing, with strong implications for enhanced patient monitoring and early intervention. Further validation could facilitate their integration into routine clinical practice.

Estimation of Cardiac and Non-cardiac Diagnosis from Electrocardiogram Features

Introduction: Ensuring timely and accurate diagnosis of medical conditions is paramount for effective patient care. Electrocardiogram (ECG) signals are fundamental for evaluating a patient's cardiac health and are readily available. Despite this, little attention has been given to the remarkable potential of ECG data in detecting non-cardiac conditions. Methods: In our study, we used publicly available datasets (MIMIC-IV-ECG-ICD and ECG-VIEW II) to investigate the feasibility of inferring general diagnostic conditions from ECG features. To this end, we trained a tree-based model (XGBoost) based on ECG features and basic demographic features to estimate a wide range of diagnoses, encompassing both cardiac and non-cardiac conditions. Results: Our results demonstrate the reliability of estimating 23 cardiac as well as 21 non-cardiac conditions above 0.7 AUROC in a statistically significant manner across a wide range of physiological categories. Our findings underscore the predictive potential of ECG data in identifying well-known cardiac conditions. However, even more striking, this research represents a pioneering effort in systematically expanding the scope of ECG-based diagnosis to conditions not traditionally associated with the cardiac system.

MDS-ED: Multimodal Decision Support in the Emergency Department -- a Benchmark Dataset for Diagnoses and Deterioration Prediction in Emergency Medicine

Background: Benchmarking medical decision support algorithms often struggles due to limited access to datasets, narrow prediction tasks, and restricted input modalities. These limitations affect their clinical relevance and performance in high-stakes areas like emergency care, complicating replication, validation, and improvement of benchmarks. Methods: We introduce a dataset based on MIMIC-IV, benchmarking protocol, and initial results for evaluating multimodal decision support in the emergency department (ED). We use diverse data modalities from the first 1.5 hours of patient arrival, including demographics, biometrics, vital signs, lab values, and electrocardiogram waveforms. We analyze 1443 clinical labels across two contexts: predicting diagnoses with ICD-10 codes and forecasting patient deterioration. Results: Our multimodal diagnostic model achieves an AUROC score over 0.8 in a statistically significant manner for 357 out of 1428 conditions, including cardiac issues like myocardial infarction and non-cardiac conditions such as renal disease and diabetes. The deterioration model scores above 0.8 in a statistically significant manner for 13 out of 15 targets, including critical events like cardiac arrest and mechanical ventilation, ICU admission as well as short- and long-term mortality. Incorporating raw waveform data significantly improves model performance, which represents one of the first robust demonstrations of this effect. Conclusions: This study highlights the uniqueness of our dataset, which encompasses a wide range of clinical tasks and utilizes a comprehensive set of features collected early during the emergency after arriving at the ED. The strong performance, as evidenced by high AUROC scores across diagnostic and deterioration targets, underscores the potential of our approach to revolutionize decision-making in acute and emergency medicine.