Abstract
Abstract While automation has transformed many areas inside clinical laboratories, microbiology still relies heavily on manual tasks, particularly the culture of samples on agar plates and their subsequent manual review for microorganism identification and antibiotic susceptibility profiling. Bacterial colony detection and classification require trained professionals, making the process time-consuming and prone to human error. Developing deep learning models to automate these tasks could improve microbiology workflows and accelerate clinical decision-making. In this study we trained and evaluated five object detection architectures (Faster R-CNN and RetinaNet with ResNet-50 and ResNet-101 backbones, and YOLOv8) on the Annotated Germs for Automated Recognition (AGAR) dataset for bacterial colony classification. Transfer learning, cross-subset generalization, and Weighted Box Fusion (WBF) ensemble methods were applied to enhance and characterize performance. Additionally, we created and publicly released a curated dataset of 165 agar plate images containing colonies of S. aureus , P. aeruginosa , and E. coli cultured across four distinct culture media. YOLOv8m achieved a mean Average Precision (mAP) of 69.0% on the AGAR dataset, outperforming the best Detectron2 model (Faster R-CNN ResNet-101, 63.1%) by 5.9 percentage points. A four-model WBF ensemble combining both architectures reached 70.5% mAP (95% CI: 68.4–71.7). Cross-subset evaluation showed that a single model trained on the full dataset generalizes well to individual imaging conditions, making subset-specific fine-tuning largely unnecessary. On the curated dataset, a mixed ensemble reached 58.7% mAP (95% CI: 57.1–63.7). These results demonstrate that architecture choice and training data diversity are the primary drivers of performance for colony detection on agar plates.

Abstract
Fabry disease (FD) is a rare genetic disorder associated with cardiac abnormalities and often overlooked brain white matter lesions (WMLs). Despite the importance of early WMLs detection, diagnosis is frequently delayed. The aim is to identify electrocardiographic biomarkers linked to WMLs in middle-aged FD patients using machine learning, assessing their potential as non-invasive diagnostic tools. This retrospective study analyzed electrocardiographic data from FD patients aged 40-59. A feature selection process based on variance inflation factor analysis identified nine relevant features, including heart rate variability and QT interval parameters. Machine learning classifiers-logistic regression, support vector machines, random forest, and k-nearest neighbors-were trained and evaluated using accuracy, sensitivity, specificity, and AUC. SHAP (SHapley Additive exPlanations) analysis was used to interpret model predictions. The random forest model achieved the highest accuracy (0.81) using all nine features. A subset consisting of SDANN 5 and QTc Min also performed well (accuracy 0.75) in other models. SHAP analysis highlighted SDANN 5 as a key predictor. Machine learning applied to ECG data shows promise for early WML detection in FD, supporting the integration of computational methods into diagnostics for complex genetic diseases.