Morphological changes in the brain over the lifespan have been successfully described by using structural magnetic resonance imaging (MRI) in conjunction with machine learning (ML) algorithms. ...International challenges and scientific initiatives to share open access imaging datasets also contributed significantly to the advance in brain structure characterization and brain age prediction methods. In this work, we present the results of the predictive model based on deep neural networks (DNN) proposed during the Predictive Analytic Competition 2019 for brain age prediction of 2638 healthy individuals. We used FreeSurfer software to extract some morphological descriptors from the raw MRI scans of the subjects collected from 17 sites. We compared the proposed DNN architecture with other ML algorithms commonly used in the literature (RF, SVR, Lasso). Our results highlight that the DNN models achieved the best performance with
= 4.6 on the hold-out test, outperforming the other ML strategies. We also propose a complete ML framework to perform a robust statistical evaluation of feature importance for the clinical interpretability of the results.
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.
The COVID-19 pandemic has amplified the urgency of the developments in computer-assisted medicine and, in particular, the need for automated tools supporting the clinical diagnosis and assessment of ...respiratory symptoms. This need was already clear to the scientific community, which launched an international challenge in 2017 at the International Conference on Biomedical Health Informatics (ICBHI) for the implementation of accurate algorithms for the classification of respiratory sound. In this work, we present a framework for respiratory sound classification based on two different kinds of features: (i) short-term features which summarize sound properties on a time scale of tenths of a second and (ii) long-term features which assess sounds properties on a time scale of seconds. Using the publicly available dataset provided by ICBHI, we cross-validated the classification performance of a neural network model over 6895 respiratory cycles and 126 subjects. The proposed model reached an accuracy of 85%±3% and an precision of 80%±8%, which compare well with the body of literature. The robustness of the predictions was assessed by comparison with state-of-the-art machine learning tools, such as the support vector machine, Random Forest and deep neural networks. The model presented here is therefore suitable for large-scale applications and for adoption in clinical practice. Finally, an interesting observation is that both short-term and long-term features are necessary for accurate classification, which could be the subject of future studies related to its clinical interpretation.
Recent works have extensively investigated the possibility to predict brain aging from T1-weighted MRI brain scans. The main purposes of these studies are the investigation of subject-specific aging ...mechanisms and the development of accurate models for age prediction. Deviations between predicted and chronological age are known to occur in several neurodegenerative diseases; as a consequence, reaching higher levels of age prediction accuracy is of paramount importance to develop diagnostic tools. In this work, we propose a novel complex network model for brain based on segmenting T1-weighted MRI scans in rectangular boxes, called patches, and measuring pairwise similarities using Pearson's correlation to define a subject-specific network. We fed a deep neural network with nodal metrics, evaluating both the intensity and the uniformity of connections, to predict subjects' ages. Our model reaches high accuracies which compare favorably with state-of-the-art approaches. We observe that the complex relationships involved in this brain description cannot be accurately modeled with standard machine learning approaches, such as Ridge and Lasso regression, Random Forest, and Support Vector Machines, instead a deep neural network has to be used.
Analysis and quantification of brain structural changes, using Magnetic Resonance Imaging (MRI), are increasingly used to define novel biomarkers of brain pathologies, such as Alzheimer's disease ...(AD). Several studies have suggested that brain topological organization can reveal early signs of AD. Here, we propose a novel brain model which captures both intra- and inter-subject information within a multiplex network approach. This model localizes brain atrophy effects and summarizes them with a diagnostic score. On an independent test set, our multiplex-based score segregates (i) normal controls (NC) from AD patients with a 0.86±0.01 accuracy and (ii) NC from mild cognitive impairment (MCI) subjects that will convert to AD (cMCI) with an accuracy of 0.84±0.01. The model shows that illness effects are maximally detected by parceling the brain in equal volumes of 3, 000 mm
("patches"), without any
segmentation based on anatomical features. The multiplex approach shows great sensitivity in detecting anomalous changes in the brain; the robustness of the obtained results is assessed using both voxel-based morphometry and FreeSurfer morphological features. Because of its generality this method can provide a reliable tool for clinical trials and a disease signature of many neurodegenerative pathologies.
Alzheimer's disease (AD) is the most common form of dementia among older people and increasing longevity ensures its prevalence will rise even further. Whether AD originates by disconnecting a ...localized brain area and propagates to the rest of the brain across disease-severity progression is a question with an unknown answer. An important related challenge is to predict whether a given subject, with a mild cognitive impairment (MCI), will convert or not to AD. Here, our aim is to characterize the structural connectivity pattern of MCI and AD subjects using the multivariate distance matrix regression (MDMR) analysis, and to compare it to those of healthy subjects. MDMR is a technique developed in genomics that has been recently applied to functional brain network data, and here applied to identify brain nodes with different connectivity patterns, in controls and patients, because of brain atrophy. We address this issue at the macroscale by looking to differences in individual structural MRI brain networks, obtained from MR images according to a recently proposed definition of connectivity which measures the image similarity between patches at different locations in the brain. In particular, using data from ADNI, we selected four groups of subjects (all of them matched by age and sex): HC (healthy control participants), ncMCI (mild cognitive impairment not converting to AD), cMCI (mild cognitive impairment converting to AD) and AD. Next, we built structural MRI brain networks and performed group comparison for all the pairs of groups. Our results were three-fold: (i) considering the comparison of HC with the three other groups, the number of significant brain regions was 4 for ncMCI, 290 for cMCI and 74 for AD, out of a total of 549 regions; hence, in terms of the structural MRI connectivity here adopted, cMCI subjects have the maximal altered pattern w.r.t. healthy conditions. (ii) Eight and seven nodes were significant for the comparisons AD-ncMCI and AD-cMCI, respectively; six nodes, among them, were significant in both comparisons and these nodes form a connected brain region (corresponding to hippocampus, amygdala, Parahippocampal Gyrus, Planum Polare, Frontal Orbital Cortex, Temporal Pole and subcallosal cortex) showing reduced strength of connectivity in the MCI stages; (iii) The connectivity maps of cMCI and ncMCI subjects significantly differ from the connectome of healthy subjects in three regions all corresponding to Frontal Orbital Cortex.
Currently the whole world is affected by the COVID-19 disease. Italy was the first country to be seriously affected in Europe, where the first COVID-19 outbreak was localized in the Lombardy region. ...The further spreading of the cases led to the lockdown of the most affected regions in northern Italy and then the entire country. In this work we investigated an epidemic spread scenario in the Lombardy region by using the origin–destination matrix with information about the commuting flows among 1450 urban areas within the region. We performed a large-scale simulation-based modeling of the epidemic spread over the networks related to three main motivations, i.e., work, study and occasional transfers to quantify the potential contribution of each category of travellers to the spread of the epidemic process. Our findings outline that the three networks are characterised by different weight dynamic growth rates and that the network “work” has a critical role in the diffusion phenomenon showing the greatest contribution to the epidemic spread.
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 R2 of 0.84 ± 0.01 and MAE of 5.00 ± 0.01 μg/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.
Research on brain disorders with a strong genetic component and complex heritability, such as schizophrenia, has led to the development of brain transcriptomics. This field seeks to gain a deeper ...understanding of gene expression, a key factor in exploring further research issues. Our study focused on how genes are associated amongst each other. In this perspective, we have developed a novel data-driven strategy for characterizing genetic modules, i.e., clusters of strongly interacting genes. The aim was to uncover a pivotal community of genes linked to a target gene for schizophrenia. Our approach combined network topological properties with information theory to highlight the presence of a pivotal community, for a specific gene, and to simultaneously assess the information content of partitions with the Shannon's entropy based on betweenness. We analyzed the publicly available BrainCloud dataset containing post-mortem gene expression data and focused on the Dopamine D2 receptor, encoded by the DRD2 gene. We used four different community detection algorithms to evaluate the consistence of our approach. A pivotal DRD2 community emerged for all the procedures applied, with a considerable reduction in size, compared to the initial network. The stability of the results was confirmed by a Dice index ≥80% within a range of tested parameters. The detected community was also the most informative, as it represented an optimization of the Shannon entropy. Lastly, we verified the strength of connection of the DRD2 community, which was stronger than any other randomly selected community and even more so than the Weighted Gene Co-expression Network Analysis module, commonly considered the standard approach for such studies. This finding substantiates the conclusion that the detected community represents a more connected and informative cluster of genes for the DRD2 community, and therefore better elucidates the behavior of this module of strongly related DRD2 genes. Because this gene plays a relevant role in Schizophrenia, this finding of a more specific DRD2 community will improve the understanding of the genetic factors related with this disorder.
Respiratory system cancer, encompassing lung, trachea and bronchus cancer, constitute a substantial and evolving public health challenge. Since pollution plays a prominent cause in the development of ...this disease, identifying which substances are most harmful is fundamental for implementing policies aimed at reducing exposure to these substances. We propose an approach based on explainable artificial intelligence (XAI) based on remote sensing data to identify the factors that most influence the prediction of the standard mortality ratio (SMR) for respiratory system cancer in the Italian provinces using environment and socio-economic data. First of all, we identified 10 clusters of provinces through the study of the SMR variogram. Then, a Random Forest regressor is used for learning a compact representation of data. Finally, we used XAI to identify which features were most important in predicting SMR values. Our machine learning analysis shows that NO, income and O3 are the first three relevant features for the mortality of this type of cancer, and provides a guideline on intervention priorities in reducing risk factors.
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