Intellectual disability (ID) is a pathological condition characterized by limited intellectual functioning and adaptive behaviors. It affects 1–3% of the worldwide population, and no pharmacological therapies are currently available. More than 1000 genes have been found mutated in ID patients pointing out that, despite the common phenotype, the genetic bases are highly heterogeneous and apparently unrelated. Bibliomic analysis reveals that ID genes converge onto a few biological modules, including cytoskeleton dynamics, whose regulation depends on Rho GTPases transduction. Genetic variants exert their effects at different levels in a hierarchical arrangement, starting from the molecular level and moving toward higher levels of organization, i.e., cell compartment and functions, circuits, cognition, and behavior. Thus, cytoskeleton alterations that have an impact on cell processes such as neuronal migration, neuritogenesis, and synaptic plasticity rebound on the overall establishment of an effective network and consequently on the cognitive phenotype. Systems biology (SB) approaches are more focused on the overall interconnected network rather than on individual genes, thus encouraging the design of therapies that aim to correct common dysregulated biological processes. This review summarizes current knowledge about cytoskeleton control in neurons and its relevance for the ID pathogenesis, exploiting in silico modeling and translating the implications of those findings into biomedical research.

In recent years, the debate in the field of applications of Deep Learning to Virtual Screening has focused on the use of neural embeddings with respect to classical descriptors in order to encode both structural and physical properties of ligands and/or targets. The attention on embeddings with the increasing use of Graph Neural Networks aimed at overcoming molecular fingerprints that are short range embeddings for atomic neighborhoods. Here, we present EMBER, a novel molecular embedding made by seven molecular fingerprints arranged as different “spectra” to describe the same molecule, and we prove its effectiveness by using deep convolutional architecture that assesses ligands’ bioactivity on a data set containing twenty protein kinases with similar binding sites to CDK1. The data set itself is presented, and the architecture is explained in detail along with its training procedure. We report experimental results and an explainability analysis to assess the contribution of each fingerprint to different targets.

Work-related musculoskeletal disorders (WMSDs) are a leading concern in industrial ergonomics, often stemming from sustained non-neutral postures and repetitive tasks. This paper presents a vision-based framework for real-time, frame-level ergonomic risk classification using a lightweight Vision Transformer (ViT). The proposed system operates directly on raw RGB images without requiring skeleton reconstruction, joint angle estimation, or image segmentation. A single ViT model simultaneously classifies eight anatomical regions, enabling efficient multi-label posture assessment. Training is supervised using a multimodal dataset acquired from synchronized RGB video and full-body inertial motion capture, with ergonomic risk labels derived from RULA scores computed on joint kinematics. The system is validated on realistic, simulated industrial tasks that include common challenges such as occlusion and posture variability. Experimental results show that the ViT model achieves state-of-the-art performance, with F1-scores exceeding 0.99 and AUC values above 0.996 across all regions. Compared to previous CNN-based system, the proposed model improves classification accuracy and generalizability while reducing complexity and enabling real-time inference on edge devices. These findings demonstrate the model’s potential for unobtrusive, scalable ergonomic risk monitoring in real-world manufacturing environments.

Background: A Virtual Screening algorithm has to adapt to the different stages of this process. Early screening needs to ensure that all bioactive compounds are ranked in the first positions despite of the number of false positives, while a second screening round is aimed at increasing the prediction accuracy. Results: A novel CNN architecture is presented to this aim, which predicts bioactivity of candidate compounds on CDK1 using a combination of molecular fingerprints as their vector representation, and has been trained suitably to achieve good results as regards both enrichment factor and accuracy in different screening modes (98.55% accuracy in active-only selection, and 98.88% in high precision discrimination). Conclusion: The proposed architecture outperforms state-of-the-art ML approaches, and some interesting insights on molecular fingerprints are devised.

The increasing interest in developing Artificial Intelligence applications in the medical domain, suffers from the lack of high-quality data set, mainly due to privacy-related issues. In addition, the recent increase in Vision Language Models (VLM) leads to the need for multimodal medical data sets, where clinical reports and findings are attached to the corresponding medical scans. This paper illustrates the entire workflow for building the MedPix 2.0 data set. Starting with the well-known multimodal data set MedPix ^® , mainly used by physicians, nurses, and healthcare students for Continuing Medical Education purposes, a semi-automatic pipeline was developed to extract visual and textual data followed by a manual curing procedure in which noisy samples were removed, thus creating a MongoDB database. Along with the data set, we developed a Graphical User Interface aimed at navigating efficiently the MongoDB instance and obtaining the raw data that can be easily used for training and/or fine-tuning VLMs. To enforce this point, in this work, we first recall DR-Minerva, a Retrieve Augmented Generation-based VLM model trained upon MedPix 2.0. DR-Minerva predicts the body part and the modality used to scan its input image. We also propose the extension of DR-Minerva with a Knowledge Graph that uses Llama 3.1 Instruct 8B, and leverages MedPix 2.0. The resulting architecture can be queried in an end-to-end manner, as a medical decision support system. MedPix 2.0 is available on GitHub.

In recent years, Artificial Intelligence (AI) and in particular Deep Neural Networks (DNN) became a relevant research topic in biomedical image segmentation due to the availability of more and more data sets along with the establishment of well known competitions. Despite the popularity of DNN based segmentation on the research side, these techniques are almost unused in the daily clinical practice even if they could support effectively the physician during the diagnostic process. Apart from the issues related to the explainability of the predictions of a neural model, such systems are not integrated in the diagnostic workflow, and a standardization of their use is needed to achieve this goal. This paper presents IODeep a new DICOM Information Object Definition (IOD) aimed at storing both the weights and the architecture of a DNN already trained on a particular image dataset that is labeled as regards the acquisition modality, the anatomical region, and the disease under investigation. The IOD architecture is presented along with a DNN selection algorithm from the PACS server based on the labels outlined above, and a simple PACS viewer purposely designed for demonstrating the effectiveness of the DICOM integration, while no modifications are required on the PACS server side. Also a service based architecture in support of the entire workflow has been implemented. IODeep ensures full integration of a trained AI model in a DICOM infrastructure, and it is also enables a scenario where a trained model can be either fine-tuned with hospital data or trained in a federated learning scheme shared by different hospitals. In this way AI models can be tailored to the real data produced by a Radiology ward thus improving the physician decision making process. Source code is freely available at https://github.com/CHILab1/IODeep.git.