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1.
Machine learning-driven mapping of prokaryotic community diversity in the Mediterranean Sea using omics, earth observation, and model data
Christian Marchese, Maria Laura Zoffoli, Pierre Ramond, Tinkara Tinta, Neža Orel, 2026, original scientific article

Abstract: Marine prokaryotic communities are major contributors to oceanic food webs and global biogeochemical cycles. However, basin-scale diversity patterns and environmental drivers remain poorly understood. In this study, we applied a machine-learning framework to model the diversity of marine prokaryotic communities across the Mediterranean Sea. Diversity was quantified using the Shannon Diversity Index (SDI) derived from 16S rRNA gene sequencing. The in situ dataset included ~600 samples collected year-round from 2001 to 2023 at coastal and open-water sites, providing broad temporal coverage and multisite spatial sampling. We trained an XGBoost model using satellite-derived and modeled oceanographic variables matched to the SDI observations. The model achieved robust predictive performance (R2 = 0.78 for training and 0.70 for testing, with RMSE = 0.31 and MAPE = 0.05 across both) and captured broad basin spatial and seasonal patterns in prokaryotic community diversity, with greater uncertainty in less-represented regions. Diversity was highest in nutrient-rich coastal areas and during winter mixing, and lowest in summer-stratified or oligotrophic waters. SHAP analysis identified photoperiod as the most significant predictor, underscoring the central role of seasonal light cycles in shaping prokaryotic community diversity. Other predictors exhibited significant season- and region-dependent effects, each contributing positively within specific environmental thresholds. Climatological diversity maps revealed consistent spatiotemporal patterns, highlighting a notable west-to-east decrease in diversity and coastal hotspots. These results demonstrate that machine learning can identify major environmental drivers of prokaryotic diversity and upscale discrete observations to basin-wide predictions. This approach is transferable to other planktonic groups and supports scalable ecosystem monitoring across environmental gradients.
Keywords: prokaryotic community diversity, machine learning, Mediterranean Sea, omics, Shannon diversity index, remote sensing
Published in DiRROS: 04.05.2026; Views: 124; Downloads: 84
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Ethical considerations on the use of big data and artificial intelligence in kidney research from the ERA ethics committee
Wim Van Biesen, Jadranka Buturović-Ponikvar, Monica Fontana, Peter Heering, Mehmet S. Sever, Simon Sawhney, Valerie Luyckx, 2025, review article

Abstract: In the current paper, we will focus on requirements to ensure big data can advance the outcomes of our patients suffering from kidney disease. The associated ethical question is whether and how we as a nephrology community can and should encourage the collection of big data of our patients. We identify some ethical reflections on the use of big data, and their importance and relevance. Furthermore, we balance advantages and pitfalls and discuss requirements to make legitimate and ethical use of big data possible.  The collection, organization, and curation of data come upfront in the pipeline before any analyses. Great care must therefore be taken to ensure quality of the data at this stage, to avoid the ‘garbage in garbage out’ problem and suboptimal patient care as a consequence of such analyses.  Access to the data should be organized so that correct and efficient use of data is possible. This means that data must be stored safely, so that only those entitled to do so can access them. At the same time, those who are entitled to access the data should be able to do so in an efficient way, so as not to hinder relevant research.  Analysis of observational data is itself prone to many errors and biases. Each of these biases can finally result in provision of low-quality medical care. Secure platforms should therefore also ensure correct methodology is used to interpret the available data. This requires close collaboration of a skilled workforce of experts in medical research and data scientists. Only then will our patients be able to benefit fully from the potential of AI and big data.
Keywords: artificial intelligence, big data, machine learning, observational trial
Published in DiRROS: 22.04.2026; Views: 102; Downloads: 83
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Multi-steroid profiling and machine learning reveal androgens as candidate biomarkers for endometrial cancer diagnosis : a case-control study
Marija Gjorgoska, Angela E. Taylor, Špela Smrkolj, Tea Lanišnik-Rižner, 2025, original scientific article

Abstract: Objective: To evaluate the diagnostic and prognostic potential of preoperative serum steroid levels in endometrial cancer (EC) alone and in combination with clinical parameters and biomarkers CA-125 and HE4. Methods: This single-center observational study included 62 patients with EC and 70 controls with benign uterine conditions who underwent surgery between June 2012 and February 2020. Preoperative serum levels of classic androgens, 11-oxyandrogens, glucocorticoids and mineralocorticoids were measured using liquid chromatography–tandem mass spectrometry (LC-MS/MS). Machine learning was used to assess their diagnostic and prognostic value alone and combined with clinical parameters and tumor biomarkers. Results: Patients with EC had significantly higher serum levels of classic androgens (androstenedione, testosterone), 11-oxyandrogens (11β-hydroxy-androstenedione, 11β-hydroxy-testosterone) and glucocorticoids (17α-hydroxy-progesterone, 11-deoxycortisol) compared to controls. While individual steroids had limited diagnostic value, a multivariate model including classic androgens, CA-125, HE4, BMI and parity achieved an AUC 0.87, 79.1% sensitivity and 74.7% specificity in distinguishing EC from benign uterine condition. This model outperformed our previously published model based on CA-125, HE4 and BMI (AUC: 0.81, p < 0.0001). Prognostically, HE4 was the strongest marker for lymphovascular space invasion (LVSI) (AUC: 0.79) and deep myometrial invasion (MI) (AUC: 0.71). Among steroids, androstenedione was the most predictive of LVSI (AUC: 0.67), while 11β-hydroxy-testosterone was the strongest predictor of deep MI (AUC: 0.64). Conclusions: Patients with EC exhibit distinct steroid hormone profiles. While steroids alone offer modest diagnostic and prognostic value, integrating them into multivariate models improves diagnostic accuracy.
Keywords: endometrial cancer, multi-steroid profiling, liquid chromatography–tandem mass spectrometry, machine learning, diagnosis, prognosis
Published in DiRROS: 10.04.2026; Views: 186; Downloads: 91
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A novel serum-based steroid-protein panels for differentiating ovarian cancer from non-malignant adnexal masses
Marija Gjorgoska, Boštjan Pirš, Špela Smrkolj, Tea Lanišnik-Rižner, 2025, original scientific article

Abstract: Background: Ovarian cancer is the deadliest gynecological malignancy, largely due to the advanced stage at diagnosis in most patients. This study investigates whether systemic steroids can serve as biomarkers to distinguish malignant ovarian tumors from non-malignant adnexal masses. Methods: This prospective, single-center observational study included 99 women with adnexal masses who underwent surgery between December 2021 and February 2025. Preoperative serum levels of 17 steroid hormones, including androgens, 11-oxyandrogens, glucocorticoids, and mineralocorticoids, were quantified using liquid chromatography-tandem mass spectrometry (LC-MS/MS). Machine learning was employed to assess the diagnostic potential of these steroids in distinguishing ovarian cancer (n = 43) from non-malignant adnexal masses (n = 56). Results: Patients with ovarian cancer had lower levels of 11β-hydroxy-testosterone (11OHT), 11-keto-testosterone (11KT), and testosterone compared to controls. Using stepwise feature selection, we developed two diagnostic models incorporating three 11-oxyandrogens (11KT, 11OHT, and 11β-hydroxy-androstenedione), patient age, and either cancer antigen 125 (CA-125) or human epididymis protein 4 (HE4) for distinguishing malignant from non-malignant adnexal masses. The model including CA-125 achieved AUC of 0.907, 88.9% sensitivity and 82.0% specificity, while the model including HE4 achieved AUC of 0.911, 94.4% sensitivity and 77.3% specificity as evaluated by cross-validation. Both models significantly outperformed CA-125, HE4, and the Risk of Ovarian Malignancy Algorithm (ROMA) index alone. Conclusion: Patients with ovarian cancer exhibit distinct steroid profiles compared to those with non-malignant adnexal masses. If validated, the models could enhance diagnosis, reducing unnecessary surgeries for benign conditions while ensuring timely treatment for ovarian cancer, particularly when conventional biomarkers are inconclusive.
Keywords: adnexal masses, diagnostic models, machine learning, ovarian cancer, steroids
Published in DiRROS: 10.04.2026; Views: 164; Downloads: 104
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Machine learning-assisted diagnosis classification of primary immune dysregulation using IDDA2.1 phenotype profiling
Malte Schwitzkowski, Sai Pavan Kumar Veeranki, Benedikt N. Seidel, Gerhard Kindle, Stephan Rusch, Diether Kramer, Markus G. Seidel, 2026, original scientific article

Abstract: Background Immune dysregulation, including autoimmunity, autoinflammation, allergy, and malignancy predisposition, adds significant disease burden in primary immune disorders (PID) and inborn errors of immunity (IEIs). Objective We evaluated whether the 5-graded immune deficiency and dysregulation activity (IDDA2.1) score, encompassing 21 organ involvement and disease burden parameters, supports diagnosis across a wide spectrum of IEIs. Methods From April 2022 to November 2024, collaborators from 84 centers collected 1,043 IDDA score datasets from 825 patients across 89 IEIs (17 disorders with ≥10 patients each; range, 1-196 per IEI), including 177 scores from 141 treated patients. Supervised machine learning models ( k -nearest neighbors, support vector machine, logistic regression, random forest) classified patients into disease groups and ranked corresponding predictive features, while unsupervised uniform manifold approximation and projection (UMAP) visualized disease-specific clustering. Results Feature analysis reflected clinicians’ recognition of IEI patterns and confirmed internal IDDA score consistency. Phenotype profiles in treated patients remained informative, inversely reflecting anticipated treatment-dependent phenotype amelioration. UMAP effectively distinguished IEIs by IDDA2.1 profiles. Genetic disorder prediction achieved 73% overall accuracy, 70% for the correct monogenic IEI, and 93% within the top 3 predictions; classification reached 43% for IEI–International Union of Immunological Society categories and 59% for 12 “cardinal” IEIs (25 genes). Conclusions Random forest feature importance analysis can inform targeted clinical screening for key disease manifestations. The top 3 prediction approach demonstrates diagnostic potential, but improved accuracy will require larger, globally shared datasets. Small sample sizes for rare diseases highlight the necessity of broader collaboration to enhance AI-assisted clinical decision-making in the future.
Keywords: inborn error of immunity, IEI, primary immune regulatory disorder, PIRD, phenotype-driven disease classification, interoperable patient data, immune deficiency and dysregulation activity (IDDA) score, artificial intelligence, AI, unsupervised and supervised machine learning, ML, primary immune disorder, PID
Published in DiRROS: 08.04.2026; Views: 167; Downloads: 126
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Machine learning and deep learning in diabetology : revolutionizing diabetes care
Salvatore Corrao, Miodrag Janić, Viviana Maggio, Manfredi Rizzo, 2025, other scientific articles

Keywords: machine learning, deep learning, artificial intelligence, diabetes management, challenges
Published in DiRROS: 09.03.2026; Views: 247; Downloads: 159
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