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      Feasibility study to improve deep learning in OCT diagnosis of rare retinal diseases with few-shot classification

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          Graphical abstract

          Deep learning (DL) has been successfully applied to the diagnosis of ophthalmic diseases. However, rare diseases are commonly neglected due to insufficient data. Here, we demonstrate that few-shot learning (FSL) using a generative adversarial network (GAN) can improve the applicability of DL in the optical coherence tomography (OCT) diagnosis of rare diseases. Four major classes with a large number of datasets and five rare disease classes with a few-shot dataset are included in this study. Before training the classifier, we constructed GAN models to generate pathological OCT images of each rare disease from normal OCT images. The Inception-v3 architecture was trained using an augmented training dataset, and the final model was validated using an independent test dataset. The synthetic images helped in the extraction of the characteristic features of each rare disease. The proposed DL model demonstrated a significant improvement in the accuracy of the OCT diagnosis of rare retinal diseases and outperformed the traditional DL models, Siamese network, and prototypical network. By increasing the accuracy of diagnosing rare retinal diseases through FSL, clinicians can avoid neglecting rare diseases with DL assistance, thereby reducing diagnosis delay and patient burden.

          Supplementary Information

          The online version contains supplementary material available at 10.1007/s11517-021-02321-1.

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          Development and Validation of a Deep Learning Algorithm for Detection of Diabetic Retinopathy in Retinal Fundus Photographs.

          Deep learning is a family of computational methods that allow an algorithm to program itself by learning from a large set of examples that demonstrate the desired behavior, removing the need to specify rules explicitly. Application of these methods to medical imaging requires further assessment and validation.
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            Clinically applicable deep learning for diagnosis and referral in retinal disease

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              Is Open Access

              Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database

              Rare diseases, an emerging global public health priority, require an evidence-based estimate of the global point prevalence to inform public policy. We used the publicly available epidemiological data in the Orphanet database to calculate such a prevalence estimate. Overall, Orphanet contains information on 6172 unique rare diseases; 71.9% of which are genetic and 69.9% which are exclusively pediatric onset. Global point prevalence was calculated using rare disease prevalence data for predefined geographic regions from the ‘Orphanet Epidemiological file’ (http://www.orphadata.org/cgi-bin/epidemio.html). Of the 5304 diseases defined by point prevalence, 84.5% of those analysed have a point prevalence of <1/1 000 000. However 77.3–80.7% of the population burden of rare diseases is attributable to the 4.2% (n = 149) diseases in the most common prevalence range (1–5 per 10 000). Consequently national definitions of ‘Rare Diseases’ (ranging from prevalence of 5 to 80 per 100 000) represent a variable number of rare disease patients despite sharing the majority of rare disease in their scope. Our analysis yields a conservative, evidence-based estimate for the population prevalence of rare diseases of 3.5–5.9%, which equates to 263–446 million persons affected globally at any point in time. This figure is derived from data from 67.6% of the prevalent rare diseases; using the European definition of 5 per 10 000; and excluding rare cancers, infectious diseases, and poisonings. Future registry research and the implementation of rare disease codification in healthcare systems will further refine the estimates.
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                Author and article information

                Contributors
                eyetaekeunyoo@gmail.com
                Journal
                Med Biol Eng Comput
                Med Biol Eng Comput
                Medical & Biological Engineering & Computing
                Springer Berlin Heidelberg (Berlin/Heidelberg )
                0140-0118
                1741-0444
                25 January 2021
                : 1-15
                Affiliations
                [1 ]Department of Ophthalmology, Medical Research Center, Aerospace Medical Center, Republic of Korea Air Force, 635 Danjae-ro, Sangdang-gu, Cheongju, South Korea
                [2 ]GRID grid.239578.2, ISNI 0000 0001 0675 4725, Epilepsy Center, Neurological Institute, , Cleveland Clinic, ; Cleveland, OH USA
                [3 ]GRID grid.411982.7, ISNI 0000 0001 0705 4288, Department of Ophthalmology, Dankook University Hospital, , Dankook University College of Medicine, ; Cheonan, South Korea
                Author information
                http://orcid.org/0000-0003-0890-8614
                Article
                2321
                10.1007/s11517-021-02321-1
                7829497
                33492598
                9452f1a0-75df-4ae7-b83a-ed2c236e09e2
                © International Federation for Medical and Biological Engineering 2021

                This article is made available via the PMC Open Access Subset for unrestricted research re-use and secondary analysis in any form or by any means with acknowledgement of the original source. These permissions are granted for the duration of the World Health Organization (WHO) declaration of COVID-19 as a global pandemic.

                History
                : 15 April 2020
                : 15 January 2021
                Categories
                Original Article

                Biomedical engineering
                rare diseases,optical coherence tomography,few-shot learning,deep learning,generative adversarial network

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