The increasing digitisation of healthcare data and the rapid development of Artificial Intelligence (AI) pave the way for innovative strategies for infectious disease management. This study aimed to systematically retrieve and summarize current evidence on the use and performance of AI-based models for healthcare-associated infection (HAI) detection (i.e., identifying infections already present in available data) and prediction (i.e., estimating future risk based on earlier patient information). PubMed, Embase, Scopus and Web of Science were searched for experimental and observational studies published between 1 July 2018 and 12 February 2024. Primary outcomes included technical performance metrics for HAI detection and prediction (e.g. recall, precision, AUROC). Any reported clinical, organisational or economic impacts were evaluated as secondary outcomes. Of 4489 records initially identified, 121 studies were included. Twenty-five studies (20.6 %) focused on HAI detection, with more than half achieving an AUROC above 0.90. In contrast, studies on HAI prediction ( n = 93, 76.9 %) reported more heterogeneous performance. Among studies comparing AI with traditional methods ( n = 32), AI models outperformed conventional approaches in 81.3 % of cases ( n = 26). A growing body of evidence suggests that AI models are equal to or superior to traditional methods for HAI detection and prediction, but challenges remain in evaluating performance, with many studies lacking comparators, few prospective evaluations, and limited assessment of organisational impact. • We observed a significant increase in the number of published studies since 2018 • AI models appear to be equal or superior to traditional methods in HAI control • Overall, AI models show high sensibility and specificity, but low precision • Detection models generally outperform prediction models in terms of AUROC • Many studies lack comparators and prospective assessment of organisational impact

Coordinating a large-scale digital health project requires a unique mix of scientific leadership, administrative skill, and human sensitivity. Drawing from our experience leading CAPABLE, a European Horizon 2020 project aimed at improving the quality of life of cancer patients through AI and telemedicine, we present ten practical rules for navigating the complex landscape of multi-partner biomedical research. These rules address challenges such as building balanced consortia, managing timelines and regulatory requirements, ensuring cultural alignment, and promoting long-term impact through dissemination and exploitation. The paper specifically addresses international research projects at the intersection of healthcare and IT and their peculiar challenges, typically connected to the interplay of different actors such as academics, healthcare personnel, and industry partners located in different countries, each from diverse backgrounds and different working practices. Our goal is to provide researchers and project coordinators with concrete guidance to increase the likelihood of success in future large digital health initiatives.

Process mining techniques can be used to analyse business processes using the data logged during their execution. These techniques are leveraged in a wide range of domains, including healthcare, where it focuses mainly on the analysis of diagnostic, treatment, and organisational processes. Despite the huge amount of data generated in hospitals by staff and machinery involved in healthcare processes, there is no evidence of a systematic uptake of process mining beyond targeted case studies in a research context. When developing and using process mining in healthcare, distinguishing characteristics of healthcare processes such as their variability and patient-centred focus require targeted attention. Against this background, the Process-Oriented Data Science in Healthcare Alliance has been established to propagate the research and application of techniques targeting the data-driven improvement of healthcare processes. This paper, an initiative of the alliance, presents the distinguishing characteristics of the healthcare domain that need to be considered to successfully use process mining, as well as open challenges that need to be addressed by the community in the future.

Abstract It is widely considered that approximately 10% of the population suffers from type 2 diabetes. Unfortunately, the impact of this disease is underestimated. Patient's mortality often occurs due to complications caused by the disease and not the disease itself. Many techniques utilized in modeling diseases are often in the form of a “black box” where the internal workings and complexities are extremely difficult to understand, both from practitioners' and patients' perspective. In this work, we address this issue and present an informative model/pattern, known as a “latent phenotype,” with an aim to capture the complexities of the associated complications' over time. We further extend this idea by using a combination of temporal association rule mining and unsupervised learning in order to find explainable subgroups of patients with more personalized prediction. Our extensive findings show how uncovering the latent phenotype aids in distinguishing the disparities among subgroups of patients based on their complications patterns. We gain insight into how best to enhance the prediction performance and reduce bias in the models applied using uncertainty in the patients' data.

Temporal phenotyping enables clinicians to better understand observable characteristics of a disease as it progresses. Modelling disease progression that captures interactions between phenotypes is inherently challenging. Temporal models that capture change in disease over time can identify the key features that characterize disease subtypes that underpin these trajectories. These models will enable clinicians to identify early warning signs of progression in specific sub-types and therefore to make informed decisions tailored to individual patients. In this paper, we explore two approaches to building temporal phenotypes based on the topology of data: topological data analysis and pseudo time-series. Using type 2 diabetes data, we show that the topological data analysis approach is able to identify disease trajectories and that pseudo time-series can infer a state space model characterized by transitions between hidden states that represent distinct temporal phenotypes. Both approaches highlight lipid profiles as key factors in distinguishing the phenotypes.

There is a great deal of debate over the importance of explanation in AI models inferred from health data. In particular, there is a balance that needs to be made between the accuracy of complex 'deep' models such as convolutional neural networks and the transparency of models that aim to model data in a more 'human' way such as expert systems. In this paper, we explore the use of temporal association rules to validate and uncover the meaning behind discrete hidden variables that have been inferred from clinical diabetes data. We use a recently published technique based upon the IC* (Induction Causation) algorithm that limits the number of hidden variables and places them within a network structure. Here, we take the hidden variables and compare their underlying discrete states to clusters that have been generated from temporal association rules. This allows us to characterise the hidden states based upon different sequences of complications. Results are very promising, with many hidden states aligning with the discovered clusters giving us a direct interpretation.

Predicting Diabetes Type 2 Mellitus (T2DM) complications such as retinopathy and liver disease is still a challenge despite being a growing public health concern worldwide. This is due to the complex interactions between complications and other features, as well as between the different complications, themselves. What is more, there are likely to be many unmeasured effects that impact the disease progression of different patients. Probabilistic graphical models such as Dynamic Bayesian Networks (DBNs) have demonstrated much promise in the modeling of disease progression and they can naturally incorporate hidden (latent) variables using the EM algorithm. Unlike deep learning approaches that attempt to model complex interactions in data by using a large number of hidden variables, we adopt a different approach. We are interested in models that not only capture unmeasured effects but are also transparent in how they model data so that knowledge about disease processes can be extracted and trust in the model can be maintained by clinicians. As a result, we have developed a step-wise hidden variable structure learning process that incrementally adds hidden variables based on the IC* algorithm. To the best of our knowledge, this is the first study for classifying disease complication using a step-wise learning methodology for identifying hidden and T2DM features with a DBN structure from clinical data. Our extensive set of experiments show that the proposed method improves classification accuracy, identifying the correct number of hidden variables, and targeting their precise location within the network structure.

Objective: To describe the development, as part of the European Union MOSAIC (Models and Simulation Techniques for Discovering Diabetes Influence Factors) project, of a dashboard-based system for the management of type 2 diabetes and assess its impact on clinical practice. Methods: The MOSAIC dashboard system is based on predictive modeling, longitudinal data analytics, and the reuse and integration of data from hospitals and public health repositories. Data are merged into an i2b2 data warehouse, which feeds a set of advanced temporal analytic models, including temporal abstractions, care-flow mining, drug exposure pattern detection, and risk-prediction models for type 2 diabetes complications. The dashboard has 2 components, designed for (1) clinical decision support during follow-up consultations and (2) outcome assessment on populations of interest. To assess the impact of the clinical decision support component, a pre-post study was conducted considering visit duration, number of screening examinations, and lifestyle interventions. A pilot sample of 700 Italian patients was investigated. Judgments on the outcome assessment component were obtained via focus groups with clinicians and health care managers. Results: The use of the decision support component in clinical activities produced a reduction in visit duration (P ≪ .01) and an increase in the number of screening exams for complications (P < .01). We also observed a relevant, although nonstatistically significant, increase in the proportion of patients receiving lifestyle interventions (from 69% to 77%). Regarding the outcome assessment component, focus groups highlighted the system's capability of identifying and understanding the characteristics of patient subgroups treated at the center. Conclusion: Our study demonstrates that decision support tools based on the integration of multiple-source data and visual and predictive analytics do improve the management of a chronic disease such as type 2 diabetes by enacting a successful implementation of the learning health care system cycle.

Comorbidities such as hypertension and lipid metabolism are often associated in diseases such as diabetes, and the early prediction of these is of great value when trying to manage progression. This is the start of a project to model multiple comorbidities in diabetes using dynamic Bayesian networks with latent variables in order to stratify patient cohorts. In this paper, we demonstrate some initial results on a dataset where the class imbalance problem poses an issue due to the rare occurrence of different individual comorbidities on a visit-by-visit basis. This is dealt with using a bootstrap technique that has been specifically designed for longitudinal data where the occurrence of the positive class occurs far less than the negative.

Process mining focuses on extracting knowledge, under the form of models, from data generated and stored in information systems. The analysis of generated models can provide useful insights to domain experts. In addition, models of processes can be used to test if a considered process complies with some given specifications. For these reasons, process mining is gaining significant importance in the healthcare domain, where the complexity and flexibility of processes makes extremely hard to evaluate and assess how patients have been treated.

OBJECTIVE: In this paper we present an evaluation of the role of reliability indicators in glaucoma severity prediction. In particular, we investigate whether it is possible to extract useful information from tests that would be normally discarded because they are considered unreliable. METHODS: We set up a predictive modelling framework to predict glaucoma severity from visual field (VF) tests sensitivities in different reliability scenarios. Three quality indicators were considered in this study: false positives rate, false negatives rate and fixation losses. Glaucoma severity was evaluated by considering a 3-levels version of the Advanced Glaucoma Intervention Study scoring metric. A bootstrapping and class balancing technique was designed to overcome problems related to small sample size and unbalanced classes. As a classification model we selected Naïve Bayes. We also evaluated Bayesian networks to understand the relationships between the different anatomical sectors on the VF map. RESULTS: The methods were tested on a data set of 28,778 VF tests collected at Moorfields Eye Hospital between 1986 and 2010. Applying Friedman test followed by the post hoc Tukey's honestly significant difference test, we observed that the classifiers trained on any kind of test, regardless of its reliability, showed comparable performance with respect to the classifier trained only considering totally reliable tests (p-value>0.01). Moreover, we showed that different quality indicators gave different effects on prediction results. Training classifiers using tests that exceeded the fixation losses threshold did not have a deteriorating impact on classification results (p-value>0.01). On the contrary, using only tests that fail to comply with the constraint on false negatives significantly decreased the accuracy of the results (p-value<0.01). Meaningful patterns related to glaucoma evolution were also extracted. CONCLUSIONS: Results showed that classification modelling is not negatively affected by the inclusion of less reliable tests in the training process. This means that less reliable tests do not subtract useful information from a model trained using only completely reliable data. Future work will be devoted to exploring new quantitative thresholds to ensure high quality testing and low re-test rates. This could assist doctors in tuning patient follow-up and therapeutic plans, possibly slowing down disease progression.

BACKGROUND: The amount of gene expression data available in public repositories has grown exponentially in the last years, now requiring new data mining tools to transform them in information easily accessible to biologists. RESULTS: By exploiting expression data publicly available in the Gene Expression Omnibus (GEO) database, we developed a new bioinformatics tool aimed at the identification of genes whose expression appeared simultaneously altered in different experimental conditions, thus suggesting co-regulation or coordinated action in the same biological process. To accomplish this task, we used the 978 human GEO Curated DataSets and we manually performed the selection of 2,109 pair-wise comparisons based on their biological rationale. The lists of differentially expressed genes, obtained from the selected comparisons, were stored in a PostgreSQL database and used as data source for the CorrelaGenes tool. Our application uses a customized Association Rule Mining (ARM) algorithm to identify sets of genes showing expression profiles correlated with a gene of interest. The significance of the correlation is measured coupling the Lift, a well-known standard ARM index, and the χ(2) p value. The manually curated selection of the comparisons and the developed algorithm constitute a new approach in the field of gene expression profiling studies. Simulation performed on 100 randomly selected target genes allowed us to evaluate the efficiency of the procedure and to obtain preliminary data demonstrating the consistency of the results. CONCLUSIONS: The preliminary results of the simulation showed how CorrelaGenes could contribute to the characterization of molecular pathways and biological processes integrating data obtained from other applications and available in public repositories.

Abstract Summary: TimeClust is a user-friendly software package to cluster genes according to their temporal expression profiles. It can be conveniently used to analyze data obtained from DNA microarray time-course experiments. It implements two original algorithms specifically designed for clustering short time series together with hierarchical clustering and self-organizing maps. Availability: TimeClust executable files for Windows and LINUX platforms can be downloaded free of charge for non-profit institutions from the following web site: http://aimed11.unipv.it/TimeClust. Contact: [email protected] or for software support [email protected] Supplementary information: A simple user's guide (example.pdf) is available in the download area together with two trial data sets.

In this paper we introduce a novel method to extract from data and graphically represent the temporal relationships between events, called precedence temporal network. The new approach first derives events from time series by exploiting the temporal abstraction technique, then derives temporal precedence between abstractions in terms of association rules and finally expresses the relationships as a labeled graph. The method is applied to the problem of representing the temporal behavior of gene expressions, as they are collected by DNA microarrays. In particular, in this paper we present the results obtained from the analysis of the expression of a subset of the genes involved in cell-cycle regulation.