6-pyruvoyl tetrahydropterin synthase deficiency (PTPSD) is a rare neurometabolic disease that can be diagnosed in newborn screening (NBS) and is part of the family of tetrahydrobiopterin deficiency disorders (BH4Ds). It is essential to diagnose and treat this disease early to prevent permanent neurological damage secondary to this neurotransmitter disorder. We present the first two cases of PTPSD in Romania that were genetically confirmed and treated late. Improving the diagnosis and monitoring procedures in Romania with correct metabolic management will prevent severe neurological impairment from PTPSD or other BH4Ds.

Deriving knowledge and learning from past experiences is essential for the successful adoption of Nature-Based Solutions (NBS) as novel integrative solutions that involve many uncertainties. Past experiences in implementing NBS have been collected in a number of repositories; however, it is a major challenge to derive knowledge from the huge amount of information provided by these repositories. This calls for information systems that can facilitate the knowledge extraction process. This paper introduces the NBS Case-Based System (NBS-CBS), an expert system that uses a hybrid architecture to derive information and recommendations from an NBS experience repository. The NBS-CBS combines a \'black-box\' artificial neural networks model with a \'white-box\' case-based reasoning model to deliver an intelligent, adaptive, and explainable system. Experts have tested this system to assess its functionality and accuracy. Accordingly, the NBS-CBS appears to provide inspirational recommendations and information for the NBS planning and design process.