Pietro Hiram Guzzi

Pietro Hiram Guzzi, Annamaria De Filippo, Pierangelo Veltri

Patient triage plays a crucial role in healthcare, ensuring timely and appropriate care based on the urgency of patient conditions. Traditional triage methods heavily rely on human judgment, which can be subjective and prone to errors. Recently, a growing interest has been in leveraging artificial intelligence (AI) to develop algorithms for triaging patients. This paper presents the development of a novel algorithm for triaging patients. It is based on the analysis of patient data to produce decisions regarding their prioritization. The algorithm was trained on a comprehensive data set containing relevant patient information, such as vital signs, symptoms, and medical history. The algorithm was designed to accurately classify patients into triage categories through rigorous preprocessing and feature engineering. Experimental results demonstrate that our algorithm achieved high accuracy and performance, outperforming traditional triage methods. By incorporating computer science into the triage process, healthcare professionals can benefit from improved efficiency, accuracy, and consistency, prioritizing patients effectively and optimizing resource allocation. Although further research is needed to address challenges such as biases in training data and model interpretability, the development of AI-based algorithms for triaging patients shows great promise in enhancing healthcare delivery and patient outcomes.

Francesco Speziale, Ugo Lomoio, Fabiola Boccuto et al.

Cardiac amyloidosis (CA) is a rare and underdiagnosed infiltrative cardiomyopathy, and available datasets for machine-learning models are typically small, imbalanced and heterogeneous. This paper presents a Generative Adversarial Network (GAN) and a graphical command-line interface for generating realistic synthetic electrocardiogram (ECG) beats to support early diagnosis and patient stratification in CA. The tool is designed for usability, allowing clinical researchers to train class-specific generators once and then interactively produce large volumes of labelled synthetic beats that preserve the distribution of minority classes.

Annamaria Defilippo, Pierangelo Veltri, Pietro Lio' et al.

Patient triage plays a crucial role in emergency departments, ensuring timely and appropriate care based on correctly evaluating the emergency grade of patient conditions. Triage methods are generally performed by human operator based on her own experience and information that are gathered from the patient management process. Thus, it is a process that can generate errors in emergency level associations. Recently, Traditional triage methods heavily rely on human decisions, which can be subjective and prone to errors. Recently, a growing interest has been focused on leveraging artificial intelligence (AI) to develop algorithms able to maximize information gathering and minimize errors in patient triage processing. We define and implement an AI based module to manage patients emergency code assignments in emergency departments. It uses emergency department historical data to train the medical decision process. Data containing relevant patient information, such as vital signs, symptoms, and medical history, are used to accurately classify patients into triage categories. Experimental results demonstrate that the proposed algorithm achieved high accuracy outperforming traditional triage methods. By using the proposed method we claim that healthcare professionals can predict severity index to guide patient management processing and resource allocation.

Ugo Lomoio, Pierangelo Veltri, Pietro Hiram Guzzi et al.

Electrocardiogram (ECG) signals play a pivotal role in cardiovascular diagnostics, providing essential information on the electrical activity of the heart. However, the inherent noise and limited resolution in ECG recordings can hinder accurate interpretation and diagnosis. In this paper, we propose a novel model for ECG super resolution (SR) that uses a DNAE to enhance temporal and frequency information inside ECG signals. Our approach addresses the limitations of traditional ECG signal processing techniques. Our model takes in input 5-second length ECG windows sampled at 50 Hz (very low resolution) and it is able to reconstruct a denoised super-resolution signal with an x10 upsampling rate (sampled at 500 Hz). We trained the proposed DCAE-SR on public available myocardial infraction ECG signals. Our method demonstrates superior performance in reconstructing high-resolution ECG signals from very low-resolution signals with a sampling rate of 50 Hz. We compared our results with the current deep-learning literature approaches for ECG super-resolution and some non-deep learning reproducible methods that can perform both super-resolution and denoising. We obtained current state-of-the-art performances in super-resolution of very low resolution ECG signals frequently corrupted by ECG artifacts. We were able to obtain a signal-to-noise ratio of 12.20 dB (outperforms previous 4.68 dB), mean squared error of 0.0044 (outperforms previous 0.0154) and root mean squared error of 4.86% (outperforms previous 12.40%). In conclusion, our DCAE-SR model offers a robust (to artefact presence), versatile and explainable solution to enhance the quality of ECG signals. This advancement holds promise in advancing the field of cardiovascular diagnostics, paving the way for improved patient care and high-quality clinical decisions

Valentina Carbonari, Pierangelo Veltri, Pietro Hiram Guzzi

Recent advances in artificial intelligence, particularly large language models LLMs, have shown promising capabilities in transforming rare disease research. This survey paper explores the integration of LLMs in the analysis of rare diseases, highlighting significant strides and pivotal studies that leverage textual data to uncover insights and patterns critical for diagnosis, treatment, and patient care. While current research predominantly employs textual data, the potential for multimodal data integration combining genetic, imaging, and electronic health records stands as a promising frontier. We review foundational papers that demonstrate the application of LLMs in identifying and extracting relevant medical information, simulating intelligent conversational agents for patient interaction, and enabling the formulation of accurate and timely diagnoses. Furthermore, this paper discusses the challenges and ethical considerations inherent in deploying LLMs, including data privacy, model transparency, and the need for robust, inclusive data sets. As part of this exploration, we present a section on experimentation that utilizes multiple LLMs alongside structured questionnaires, specifically designed for diagnostic purposes in the context of different diseases. We conclude with future perspectives on the evolution of LLMs towards truly multimodal platforms, which would integrate diverse data types to provide a more comprehensive understanding of rare diseases, ultimately fostering better outcomes in clinical settings.

Ugo Lomoio, Pierangelo Veltri, Pietro Hiram Guzzi

Deep learning neural networks architectures such Multi Layer Perceptrons (MLP) and Convolutional blocks still play a crucial role in nowadays research advancements. From a topological point of view, these architecture may be represented as graphs in which we learn the functions related to the nodes while fixed edges convey the information from the input to the output. A recent work introduced a new architecture called Kolmogorov Arnold Networks (KAN) that reports how putting learnable activation functions on the edges of the neural network leads to better performances in multiple scenarios. Multiple studies are focusing on optimizing the KAN architecture by adding important features such as dropout regularization, Autoencoders (AE), model benchmarking and last, but not least, the KAN Convolutional Network (KCN) that introduced matrix convolution with KANs learning. This study aims to benchmark multiple versions of vanilla AEs (such as Linear, Convolutional and Variational) against their Kolmogorov-Arnold counterparts that have same or less number of parameters. Using cardiological signals as model input, a total of five different classic AE tasks were studied: reconstruction, generation, denoising, inpainting and anomaly detection. The proposed experiments uses a medical dataset \textit{AbnormalHeartbeat} that contains audio signals obtained from the stethoscope.

Ugo Lomoio, Tommaso Mazza, Pierangelo Veltri et al.

The increasing availability of large-scale omics data calls for robust analytical frameworks capable of handling complex gene expression datasets while offering interpretable results. Recent advances in artificial intelligence have enabled the identification of aberrant molecular patterns distinguishing disease states from healthy controls. Coupled with improvements in model interpretability, these tools now support the identification of genes potentially driving disease phenotypes. However, current approaches to gene anomaly detection often remain limited to single datasets and lack accessible graphical interfaces. Here, we introduce E-ABIN, a general-purpose, explainable framework for Anomaly detection in Biological Networks. E-ABIN combines classical machine learning and graph-based deep learning techniques within a unified, user-friendly platform, enabling the detection and interpretation of anomalies from gene expression or methylation-derived networks. By integrating algorithms such as Support Vector Machines, Random Forests, Graph Autoencoders (GAEs), and Graph Adversarial Attributed Networks (GAANs), E-ABIN ensures a high predictive accuracy while maintaining interpretability. We demonstrate the utility of E-ABIN through case studies of bladder cancer and coeliac disease, where it effectively uncovers biologically relevant anomalies and offers insights into disease mechanisms.

Jayanta Kumar Das, Swarup Roy, Pietro Hiram Guzzi

The development of therapeutic targets for COVID-19 treatment is based on the understanding of the molecular mechanism of pathogenesis. The identification of genes and proteins involved in the infection mechanism is the key to shed out light into the complex molecular mechanisms. The combined effort of many laboratories distributed throughout the world has produced the accumulation of both protein and genetic interactions. In this work we integrate these available results and we obtain an host protein-protein interaction network composed by 1432 human proteins. We calculate network centrality measures to identify key proteins. Then we perform functional enrichment of central proteins. We observed that the identified proteins are mostly associated with several crucial pathways, including cellular process, signalling transduction, neurodegenerative disease. Finally, we focused on proteins involved in causing disease in the human respiratory tract. We conclude that COVID19 is a complex disease, and we highlighted many potential therapeutic targets including RBX1, HSPA5, ITCH, RAB7A, RAB5A, RAB8A, PSMC5, CAPZB, CANX, IGF2R, HSPA1A, which are central and also associated with multiple diseases

Pietro Hiram Guzzi, Giuseppe Agapito, Marianna Milano et al.

The Human Phenotype Ontology (HPO) is a structured repository of concepts (HPO Terms) that are associated to one or more diseases. The process of association is referred to as annotation. The relevance and the specificity of both HPO terms and annotations are evaluated by a measure defined as Information Content (IC). The analysis of annotated data is thus an important challenge for bioinformatics. There exist different approaches of analysis. From those, the use of Association Rules (AR) may provide useful knowledge, and it has been used in some applications, e.g. improving the quality of annotations. Nevertheless classical association rules algorithms do not take into account the source of annotation nor the importance yielding to the generation of candidate rules with low IC. This paper presents HPO-Miner (Human Phenotype Ontology-based Weighted Association Rules) a methodology for extracting Weighted Association Rules. HPO-Miner can extract relevant rules from a biological point of view. A case study on using of HPO-Miner on publicly available HPO annotation datasets is used to demonstrate the effectiveness of our methodology.

Mario Cannataro, Pietro Hiram Guzzi, Marianna Milano et al.

In computational biology, biological entities such as genes or proteins are usually annotated with terms extracted from Gene Ontology (GO). The functional similarity among terms of an ontology is evaluated by using Semantic Similarity Measures (SSM). More recently, the extensive application of SSMs yielded to the Semantic Similarity Networks (SSNs). SSNs are edge-weighted graphs where the nodes are concepts (e.g. proteins) and each edge has an associated weight that represents the semantic similarity among related pairs of nodes. The analysis of SSNs may reveal biologically meaningful knowledge. For these aims, the need for the introduction of tool able to manage and analyze SSN arises. Consequently we developed SSN-Analyzer a web based tool able to build and preprocess SSN. As proof of concept we demonstrate that community detection algorithms applied to filtered (thresholded) networks, have better performances in terms of biological relevance of the results, with respect to the use of raw unfiltered networks.