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Giuliana Monachino

Publications and source records attributed to Giuliana Monachino.

5 recordsLinked to original sources

Do ECG Foundation Models Transfer to Rare Cardiac Diseases? Evidence from Brugada Syndrome Detection

Background: Foundation models (FMs) trained on large-scale unlabeled physiological data have emerged as a promising paradigm for medical artificial intelligence. Their ability to capture clinically meaningful, transferable representations for rare diseases remains largely unproven. This study investigates whether FM pre-training provides genuine clinical generalization benefits beyond improved optimization for rare electrocardiographic (ECG) phenotypes. Methods: We systematically evaluated nine publicly available ECG FMs for Brugada syndrome detection on the BrSwiss cohort (294 patients, 87 cases) and the independent external HUCA cohort (363 patients, 76 cases), under three strategies (from-scratch training, linear probing, full fine-tuning) across several configurations, including a 3% data ablation and zero-shot cross-site transfers. Results: Pre-training was necessary for high-capacity architectures unable to converge from scratch (AUC gain up to 0.411, p < 0.05), but gave no significant gain for compact architectures already converged on labeled data alone. On full BrSwiss, the best fine-tuned FM (ECG-CPC, AUC = 0.962) only marginally exceeded the strongest supervised baseline (ECG-CPC from scratch, AUC = 0.932; p = 0.091). At matched training-set size, the data-efficiency advantage on BrSwiss-3% (AUC gain = 0.055, p < 0.01) did not replicate on HUCA. Under zero-shot cross-site transfer, FM-based pipelines did not generalize better than supervised baselines, all approaching chance-level performance. Conclusion: For Brugada syndrome detection, FM pre-training is mechanical rather than semantic, providing optimization stability rather than transferable clinical knowledge. These findings challenge the assumption that large-scale pre-training inherently encodes clinically meaningful representations, highlighting the central role of model architecture and data-domain alignment.

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Self-DANA: A Resource-Efficient Channel-Adaptive Self-Supervised Approach for ECG Foundation Models

Foundation Models (FMs) are large-scale machine learning models trained on extensive, diverse datasets that can be adapted to a wide range of downstream tasks with minimal fine-tuning. In the last two years, interest in FMs has also grown for applications in the cardiological field to analyze the electrocardiogram (ECG) signals. One of the key properties of FMs is their transferability to a wide range of downstream scenarios. With the spread of wearable and portable devices, keen interest in learning from reduced-channel configurations has arisen. However, the adaptation of ECG FMs to downstream scenarios with fewer available channels still has to be properly investigated. In this work, we propose Self-DANA, a novel, easy-to-integrate solution that makes self-supervised architectures adaptable to a reduced number of input channels, ensuring resource efficiency and high performance. We also introduce Random Lead Selection, a novel augmentation technique to pre-train models in a more robust and channel-agnostic way. Our experimental results on five reduced-channel configurations demonstrate that Self-DANA significantly enhances resource efficiency while reaching state-of-the-art performance. It requires up to 69.3% less peak CPU memory, 34.4% less peak GPU memory, about 17% less average epoch CPU time, and about 24% less average epoch GPU time.

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Comparison analysis between standard polysomnographic data and in-ear-EEG signals: A preliminary study

Study Objectives: Polysomnography (PSG) currently serves as the benchmark for evaluating sleep disorders. Its discomfort makes long-term monitoring unfeasible, leading to bias in sleep quality assessment. Hence, less invasive, cost-effective, and portable alternatives need to be explored. One promising contender is the in-ear-EEG sensor. This study aims to establish a methodology to assess the similarity between the single-channel in-ear-EEG and standard PSG derivations. Methods: The study involves four-hour signals recorded from ten healthy subjects aged 18 to 60 years. Recordings are analyzed following two complementary approaches: (i) a hypnogram-based analysis aimed at assessing the agreement between PSG and in-ear-EEG-derived hypnograms; and (ii) a feature-based analysis based on time- and frequency- domain feature extraction, unsupervised feature selection, and definition of Feature-based Similarity Index via Jensen-Shannon Divergence (JSD-FSI). Results: We find large variability between PSG and in-ear-EEG hypnograms scored by the same sleep expert according to Cohen's kappa metric, with significantly greater agreements for PSG scorers than for in-ear-EEG scorers (p < 0.001) based on Fleiss' kappa metric. On average, we demonstrate a high similarity between PSG and in-ear-EEG signals in terms of JSD-FSI (0.79 +/- 0.06 -awake, 0.77 +/- 0.07 -NREM, and 0.67 +/- 0.10 -REM) and in line with the similarity values computed independently on standard PSG-channel-combinations. Conclusions: In-ear-EEG is a valuable solution for home-based sleep monitoring, however further studies with a larger and more heterogeneous dataset are needed.

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Bridging AI and Clinical Practice: Integrating Automated Sleep Scoring Algorithm with Uncertainty-Guided Physician Review

Purpose: This study aims to enhance the clinical use of automated sleep-scoring algorithms by incorporating an uncertainty estimation approach to efficiently assist clinicians in the manual review of predicted hypnograms, a necessity due to the notable inter-scorer variability inherent in polysomnography (PSG) databases. Our efforts target the extent of review required to achieve predefined agreement levels, examining both in-domain and out-of-domain data, and considering subjects diagnoses. Patients and methods: Total of 19578 PSGs from 13 open-access databases were used to train U-Sleep, a state-of-the-art sleep-scoring algorithm. We leveraged a comprehensive clinical database of additional 8832 PSGs, covering a full spectrum of ages and sleep-disorders, to refine the U-Sleep, and to evaluate different uncertainty-quantification approaches, including our novel confidence network. The ID data consisted of PSGs scored by over 50 physicians, and the two OOD sets comprised recordings each scored by a unique senior physician. Results: U-Sleep demonstrated robust performance, with Cohen's kappa (K) at 76.2% on ID and 73.8-78.8% on OOD data. The confidence network excelled at identifying uncertain predictions, achieving AUROC scores of 85.7% on ID and 82.5-85.6% on OOD data. Independently of sleep-disorder status, statistical evaluations revealed significant differences in confidence scores between aligning vs discording predictions, and significant correlations of confidence scores with classification performance metrics. To achieve K of at least 90% with physician intervention, examining less than 29.0% of uncertain epochs was required, substantially reducing physicians workload, and facilitating near-perfect agreement.

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U-Sleep's resilience to AASM guidelines

AASM guidelines are the result of decades of efforts aiming at standardizing sleep scoring procedure, with the final goal of sharing a worldwide common methodology. The guidelines cover several aspects from the technical/digital specifications,e.g., recommended EEG derivations, to detailed sleep scoring rules accordingly to age. Automated sleep scoring systems have always largely exploited the standards as fundamental guidelines. In this context, deep learning has demonstrated better performance compared to classical machine learning. Our present work shows that a deep learning based sleep scoring algorithm may not need to fully exploit the clinical knowledge or to strictly adhere to the AASM guidelines. Specifically, we demonstrate that U-Sleep, a state-of-the-art sleep scoring algorithm, can be strong enough to solve the scoring task even using clinically non-recommended or non-conventional derivations, and with no need to exploit information about the chronological age of the subjects. We finally strengthen a well-known finding that using data from multiple data centers always results in a better performing model compared with training on a single cohort. Indeed, we show that this latter statement is still valid even by increasing the size and the heterogeneity of the single data cohort. In all our experiments we used 28528 polysomnography studies from 13 different clinical studies.

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