In clinical practice, several standardized neuropsychological tests have been designed to assess and monitor the neurocognitive status of patients with neurodegenerative diseases such as Alzheimer’s disease. Important research efforts have been devoted so far to the development of multivariate machine learning models that combine the different test indexes to predict the diagnosis and prognosis of cognitive decline with remarkable results. However, less attention has been devoted to the explainability of these models. In this work, we present a robust framework to (i) perform a threefold classification between healthy control subjects, individuals with cognitive impairment, and subjects with dementia using different cognitive indexes and (ii) analyze the variability of the explainability SHAP values associated with the decisions taken by the predictive models. We demonstrate that the SHAP values can accurately characterize how each index affects a patient’s cognitive status. Furthermore, we show that a longitudinal analysis of SHAP values can provide effective information on Alzheimer’s disease progression.

In recent years personalized medicine reached an increasing importance, especially in the design of oncological therapies. In particular, the development of patients’ profiling strategies suggests the possibility of promising rewards. In this work, we present an explainable artificial intelligence (XAI) framework based on an adaptive dimensional reduction which (i) outlines the most important clinical features for oncological patients’ profiling and (ii), based on these features, determines the profile, i.e., the cluster a patient belongs to. For these purposes, we collected a cohort of 267 breast cancer patients. The adopted dimensional reduction method determines the relevant subspace where distances among patients are used by a hierarchical clustering procedure to identify the corresponding optimal categories. Our results demonstrate how the molecular subtype is the most important feature for clustering. Then, we assessed the robustness of current therapies and guidelines; our findings show a striking correspondence between available patients’ profiles determined in an unsupervised way and either molecular subtypes or therapies chosen according to guidelines, which guarantees the interpretability characterizing explainable approaches to machine learning techniques. Accordingly, our work suggests the possibility to design data-driven therapies to emphasize the differences observed among the patients.

The increased incidence and the significant health burden associated with Parkinson’s disease (PD) have stimulated substantial research efforts towards the identification of effective treatments and diagnostic procedures. Despite technological advancements, a cure is still not available and PD is often diagnosed a long time after onset when irreversible damage has already occurred. Blood transcriptomics represents a potentially disruptive technology for the early diagnosis of PD. We used transcriptome data from the PPMI study, a large cohort study with early PD subjects and age matched controls (HC), to perform the classification of PD vs. HC in around 550 samples. Using a nested feature selection procedure based on Random Forests and XGBoost we reached an AUC of 72% and found 493 candidate genes. We further discussed the importance of the selected genes through a functional analysis based on GOs and KEGG pathways.

Hepatocellular carcinoma (HCC) is one of the most common cancers worldwide, and the number of cases is constantly increasing. Early and accurate HCC diagnosis is crucial to improving the effectiveness of treatment. The aim of the study is to develop a supervised learning framework based on hierarchical community detection and artificial intelligence in order to classify patients and controls using publicly available microarray data. With our methodology, we identified 20 gene communities that discriminated between healthy and cancerous samples, with an accuracy exceeding 90%. We validated the performance of these communities on an independent dataset, and with two of them, we reached an accuracy exceeding 80%. Then, we focused on two communities, selected because they were enriched with relevant biological functions, and on these we applied an explainable artificial intelligence (XAI) approach to analyze the contribution of each gene to the classification task. In conclusion, the proposed framework provides an effective methodological and quantitative tool helping to find gene communities, which may uncover pivotal mechanisms responsible for HCC and thus discover new biomarkers.

Recent years have witnessed an increasing interest in air pollutants and their effects on human health. More generally, it has become evident how human, animal and environmental health are deeply interconnected within a One Health framework. Ground level air monitoring stations are sparse and thus have limited coverage due to high costs. Satellite and reanalysis data represent an alternative with high spatio-temporal resolution. The idea of this work is to build an Artificial Intelligence model for the estimation of surface-level daily concentrations of air pollutants over the entire Italian territory using satellite, climate reanalysis, geographical and social data. As ground truth we use data from the monitoring stations of the Regional Environmental Protection Agency (ARPA) covering the period 2019–2022 at municipal level. The analysis compares different models and applies an Explainable Artificial Intelligence approach to evaluate the role of individual features in the model. The best model reaches an average $R^2$ of 0.84 ± 0.01 and MAE of 5.00 ± 0.01 $\mathsf{\mu }$g/m³ across all pollutants which compare well with the body of literature. The XAI analysis highlights the pivotal role of satellite and climate reanalysis data. Our work can facilitate One Health surveys and help researchers and policy makers.

University psychological counseling (UPC) is receiving growing attention as a means to promote mental health and academic success among young adults and prevent irregular attendance and dropout. However, thus far, little effort has been directed towards the implementation of services attuned to students’ expectations and needs. This work intends to contribute to the existing literature on this topic, by exploring the perceptions of UPC among a population of 39,277 students attending one of the largest universities in the South of Italy. Almost half of the total population correctly identified the UPC target population as university students, and about one third correctly expected personal distress to be the main need that UPC should target. However, a large percentage did not have a clear idea about UPC target needs, activities, and population. When two specific student subsamples were analyzed using a person-centered analysis, namely (i) those who expressed their intention to use the counseling service but had not yet done so and (ii) those who had already used it, the first subsample clustered into two groups, characterized by an “emotional” and a “psychopathological” focus, respectively, while the second subsample clustered into three groups with a “clinical”, “socioemotional”, and “learning” focus, respectively. This result shows a somewhat more “superficial” and “common” representation of UPC in the first subsample and a more “articulated” and “flexible” vision in the second subsample. Taken together, these findings suggest that UPC services could adopt “student-centered” strategies to both identify and reach wider audiences and specific student subgroups. Recommended strategies include robust communication campaigns to help students develop a differentiated perception of the available and diverse academic services, and the involvement of active students to remove the barriers of embarrassment and shame often linked to the stigma of using mental health services.