Abstract
In the study, a new method for analyzing Electrocardiogram (ECG) signals is suggested, which is vital for detecting and treating heart diseases. The technique focuses on improving ECG signal classification, particularly in identifying different heart conditions like arrhythmias and myocardial infarctions. An enhanced version of the differential evolution (DE) algorithm integrated with neural networks is leveraged to classify these signals effectively. The process starts with preprocessing and extracting key features from ECG signals. These features are then processed by a multi-layer perceptron (MLP), a common neural network for ECG analysis. However, traditional MLP training methods have limitations, such as getting trapped in suboptimal solutions. To overcome this, an advanced DE algorithm is used, incorporating a partition-based strategy, opposition-based learning, and local search mechanisms. This improved DE algorithm optimizes the MLP by fine-tuning its weights and biases, using them as starting points for further refinement by the Gradient Descent with Momentum (GDM) local search algorithm. Extensive experiments demonstrate that this novel training approach yields better results than the traditional method. © The Author(s), under exclusive license to Springer Nature Switzerland AG 2025.

Abstract

Abstract
Clinical diagnosis of syndromes benefits strongly from objective facial phenotyping. This study introduces a novel approach to enhance clinical diagnosis through the development and exploration of a low-dimensional metric space referred to as the clinical face phenotypic space (CFPS). As a facial matching tool for clinical genetics, such CFPS can enhance clinical diagnosis. It helps to interpret facial dysmorphisms of a subject by placing them within the space of known dysmorphisms. In this paper, a triplet loss-based autoencoder developed by geometric deep learning (GDL) is trained using multi-task learning, which combines supervised and unsupervised learning approaches. Experiments are designed to illustrate the following properties of CFPSs that can aid clinicians in narrowing down their search space: a CFPS can 1) classify syndromes accurately, 2) generalize to novel syndromes, and 3) preserve the relatedness of genetic diseases, meaning that clusters of phenotypically similar disorders reflect functional relationships between genes. The proposed model consists of three main components: an encoder based on GDL optimizing distances between groups of individuals in the CFPS, a decoder enhancing classification by reconstructing faces, and a singular value decomposition layer maintaining orthogonality and optimal variance distribution across dimensions. This allows for the selection of an optimal number of CFPS dimensions as well as improving the classification capacity of the CFPS, which outperforms the linear metric learning baseline in both syndrome classification and generalization to novel syndromes. We further proved the usefulness of each component of the proposed framework, highlighting their individual impact. From a clinical perspective, the unique combination of these properties in a single CFPS results in a powerful tool that can be incorporated into current clinical practices to assess facial dysmorphism.

Abstract
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Abstract

Abstract