Inherited retinal diseases cause severe visual deficits in children. They are classified in outer and inner retina diseases, and often cause blindness in childhood. The diagnosis for this type of illness is challenging, given the wide range of clinical and genetic causes (with over 200 causative genes). It is routinely based on a complex pattern of clinical tests, including invasive ones, not always appropriate for infants or young children. A different approach is thus needed, that exploits Chromatic Pupillometry, a technique increasingly used to assess outer and inner retina functions. This paper presents a novel Clinical Decision Support System (CDSS), based on Machine Learning using Chromatic Pupillometry in order to support diagnosis of Inherited retinal diseases in pediatric subjects. An approach that combines hardware and software is proposed: a dedicated medical equipment (pupillometer) is used with a purposely designed custom machine learning decision support system. Two distinct Support Vector Machines (SVMs), one for each eye, classify the features extracted from the pupillometric data. The designed CDSS has been used for diagnosis of Retinitis Pigmentosa in pediatric subjects. The results, obtained by combining the two SVMs in an ensemble model, show satisfactory performance of the system, that achieved 0.846 accuracy, 0.937 sensitivity and 0.786 specificity. This is the first study that applies machine learning to pupillometric data in order to diagnose a genetic disease in pediatric age.
Congestive heart failure (CHF) is one of the most debilitating cardiac disorders. It is a costly disease in terms of both lives and financial outlays, given the high rate of hospital re-admissions and mortality. Heart failure (HF) is notoriously difficult to identify on time, and is frequently accompanied by additional comorbidities that further complicate diagnosis. Many decision support systems (DSS) have been developed to facilitate diagnosis and to raise the standard of screening and monitoring operations, even for non-expert staff. This is confirmed in the literature by records of highly performing diagnosis-aid systems, which are unfortunately not very relevant to expert cardiologists. In order to assist cardiologists in predicting the trajectory of HF, we propose a deep learning-based system which predicts severity of disease progression by employing medical patient history. We tested the accuracy of four models on a labeled dataset, composed of 1037 records, to predict CHF severity and progression, achieving results comparable to studies based on much larger datasets, none of which used longitudinal multi-class prediction. The main contribution of this work is that it demonstrates that a fairly complicated approach can achieve good results on a medium size dataset, providing a reasonably accurate means of determining the evolution of CHF well in advance. This potentially constitutes a significant aid for healthcare managers and expert cardiologists in designing different therapies for medication, healthy lifestyle changes and quality of life (QoL) management, while also promoting allocation of resources with an evidence-based approach.
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