ABSTRACT
More than 7000 rare diseases affect over 400 million people, posing significant challenges for medical research and healthcare. The integration of precision medicine with artificial intelligence offers promising solutions. This work introduces a classifier developed to discern whether research and news articles pertain to rare or non-rare diseases. Our methodology involves extracting 709 rare disease MeSH terms from Mondo and MeSH to improve rare disease categorization. We evaluate our classifier on abstracts from PubMed/MEDLINE and an expert-annotated news dataset, which includes news articles on four selected rare neurodevelopmental disorders (NDDs)-considered the largest category of rare diseases-from a total of 16 analyzed. We achieved F1 scores of 85% for abstracts and 71% for news articles, demonstrating robustness across both datasets and highlighting the potential of integrating artificial intelligence and ontologies to improve disease classification. Although the results are promising, they also indicate the need for further refinement in managing data heterogeneity. Our classifier improves the identification and categorization of medical information, essential for advancing research, enhancing information access, influencing policy, and supporting personalized treatments. Future work will focus on expanding disease classification to distinguish between attributes such as infectious and hereditary diseases, addressing data heterogeneity, and incorporating multilingual capabilities.
ABSTRACT
According to the defined challenge of cross-border delivery, a pilot experiment based on the integration of new digital technologies to assess process optimization potential in the postal sector was designed. The specifics were investigated with events processing based on digital representation. Different events were simulated with scenario analysis with the integration of the Cognitive Advisor and supported by the monitoring of KPIs. The business environment is forcing logistics companies to optimize their delivery processes, integrate new technologies, improve their performance metrics, and move towards Logistics 4.0. Their main goals are to simultaneously reduce costs, environmental impact, delivery times, and route length, as well as to increase customer satisfaction. This pilot experiment demonstrates the integration of new digital technologies for process optimization in real time to manage intraday changes. Postal operators can increase flexibility, introduce new services, improve utilization by up to 50%, and reduce costs and route length by 12.21%. The Cognitive Advisor has shown great potential for the future of logistics by enabling a dynamic approach to managing supply chain disruptions using sophisticated data analytics for process optimization based on the existing delivery infrastructure and improving business processes. Research originality is identified with a novel approach of real-time simulation based on the integration of the Cognitive Advisor in postal delivery.
