Dataset Information

Automated urinary sediment detection for Fabry disease using deep-learning algorithms.

ABSTRACT: Fabry disease is a congenital lysosomal storage disease, and most of these cases develop organ damage in middle age. There are some promising therapeutic options for this disorder, which can stabilize the progression of the disease. However, a long delay in diagnosis prevents early intervention, resulting in treatment failure. Because Fabry disease is a rare disease, it is not well recognized and disease specific screening tests are rarely performed. Hence, a novel approach to for detecting patients with a widely practiced clinical test is crucial for the early detection of the disease. Recently, decision support systems based on artificial intelligence (AI) have been developed in many clinical fields. However, the construction of these models requires datasets from a large number of samples; this aspect is one of the main obstacles in AI-based approaches for rare diseases. In this study, with a novel image amplification method to construct the dataset for AI-model training, we built the deep neural-network model to detect Fabry cases from their urine samples. Sensitivity, specificity, and the AUC of the models on validation dataset were 0.902 (95% CI, 0.900-0.903), 0.977 (0.950-0.980), and 0.968 (0.964-0.972), respectively. This model could also extract disease-specific findings that are interpretable with human recognition. These results indicate that we can apply novel AI models for rare diseases based on this image amplification method we developed. We expect this approach could contribute to the diagnosis of Fabry disease.

Synopsis

This is the first reported AI-based decision support system to detect undiagnosed Fabry cases, and our new image amplification method will contribute to the AI models for other rare disorders.

SUBMITTER: Uryu H

PROVIDER: S-EPMC9523392 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature

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Automated urinary sediment detection for Fabry disease using deep-learning algorithms.

Uryu Hidetaka H Migita Ohsuke O Ozawa Minami M Kamijo Chikako C Aoto Saki S Okamura Kohji K Hasegawa Fuyuki F Okuyama Torayuki T Kosuga Motomichi M Hata Kenichiro K

Molecular genetics and metabolism reports 20220928

Fabry disease is a congenital lysosomal storage disease, and most of these cases develop organ damage in middle age. There are some promising therapeutic options for this disorder, which can stabilize the progression of the disease. However, a long delay in diagnosis prevents early intervention, resulting in treatment failure. Because Fabry disease is a rare disease, it is not well recognized and disease specific screening tests are rarely performed. Hence, a novel approach to for detecting pati ...[more]

PMID: 36186840

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Project description:The COVID-19 pandemic has caused a worldwide catastrophe and widespread devastation that reeled almost all countries. The pandemic has mounted pressure on the existing healthcare system and caused panic and desperation. The gold testing standard for COVID-19 detection, reverse transcription-polymerase chain reaction (RT-PCR), has shown its limitations with 70% accuracy, contributing to the incorrect diagnosis that exaggerated the complexities and increased the fatalities. The new variations further pose unseen challenges in terms of their diagnosis and subsequent treatment. The COVID-19 virus heavily impacts the lungs and fills the air sacs with fluid causing pneumonia. Thus, chest X-ray inspection is a viable option if the inspection detects COVID-19-induced pneumonia, hence confirming the exposure of COVID-19. Artificial intelligence and machine learning techniques are capable of examining chest X-rays in order to detect patterns that can confirm the presence of COVID-19-induced pneumonia. This research used CNN and deep learning techniques to detect COVID-19-induced pneumonia from chest X-rays. Transfer learning with fine-tuning ensures that the proposed work successfully classifies COVID-19-induced pneumonia, regular pneumonia, and normal conditions. Xception, Visual Geometry Group 16, and Visual Geometry Group 19 are used to realize transfer learning. The experimental results were promising in terms of precision, recall, F1 score, specificity, false omission rate, false negative rate, false positive rate, and false discovery rate with a COVID-19-induced pneumonia detection accuracy of 98%. Experimental results also revealed that the proposed work has not only correctly identified COVID-19 exposure but also made a distinction between COVID-19-induced pneumonia and regular pneumonia, as the latter is a very common disease, while COVID-19 is more lethal. These results mitigated the concern and overlap in the diagnosis of COVID-19-induced pneumonia and regular pneumonia. With further integrations, it can be employed as a potential standard model in differentiating the various lung-related infections, including COVID-19.

Project description:PurposeTo compare performance of independently developed deep learning algorithms for detecting glaucoma from fundus photographs and to evaluate strategies for incorporating new data into models.MethodsTwo fundus photograph datasets from the Diagnostic Innovations in Glaucoma Study/African Descent and Glaucoma Evaluation Study and Matsue Red Cross Hospital were used to independently develop deep learning algorithms for detection of glaucoma at the University of California, San Diego, and the University of Tokyo. We compared three versions of the University of California, San Diego, and University of Tokyo models: original (no retraining), sequential (retraining only on new data), and combined (training on combined data). Independent datasets were used to test the algorithms.ResultsThe original University of California, San Diego and University of Tokyo models performed similarly (area under the receiver operating characteristic curve = 0.96 and 0.97, respectively) for detection of glaucoma in the Matsue Red Cross Hospital dataset, but not the Diagnostic Innovations in Glaucoma Study/African Descent and Glaucoma Evaluation Study data (0.79 and 0.92; P < .001), respectively. Model performance was higher when classifying moderate-to-severe compared with mild disease (area under the receiver operating characteristic curve = 0.98 and 0.91; P < .001), respectively. Models trained with the combined strategy generally had better performance across all datasets than the original strategy.ConclusionsDeep learning glaucoma detection can achieve high accuracy across diverse datasets with appropriate training strategies. Because model performance was influenced by the severity of disease, labeling, training strategies, and population characteristics, reporting accuracy stratified by relevant covariates is important for cross study comparisons.Translational relevanceHigh sensitivity and specificity of deep learning algorithms for moderate-to-severe glaucoma across diverse populations suggest a role for artificial intelligence in the detection of glaucoma in primary care.

Dataset Information

Automated urinary sediment detection for Fabry disease using deep-learning algorithms.

Synopsis

Publications

Automated urinary sediment detection for Fabry disease using deep-learning algorithms.

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