A deep learning model for diagnosing dystrophinopathies on thigh muscle MRI images

Abstract Background Dystrophinopathies are the most common type of inherited muscular diseases. Muscle biopsy and genetic tests are effective to diagnose the disease but cost much more than primary hospitals can reach. The more available muscle MRI is promising but its diagnostic results highly depe...

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Main Authors: Mei Yang, Yiming Zheng, Zhiying Xie, Zhaoxia Wang, Jiangxi Xiao, Jue Zhang, Yun Yuan
Format: Article
Language:English
Published: BMC 2021-01-01
Series:BMC Neurology
Subjects:
Online Access:https://doi.org/10.1186/s12883-020-02036-0
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author Mei Yang
Yiming Zheng
Zhiying Xie
Zhaoxia Wang
Jiangxi Xiao
Jue Zhang
Yun Yuan
author_facet Mei Yang
Yiming Zheng
Zhiying Xie
Zhaoxia Wang
Jiangxi Xiao
Jue Zhang
Yun Yuan
author_sort Mei Yang
collection DOAJ
description Abstract Background Dystrophinopathies are the most common type of inherited muscular diseases. Muscle biopsy and genetic tests are effective to diagnose the disease but cost much more than primary hospitals can reach. The more available muscle MRI is promising but its diagnostic results highly depends on doctors’ experiences. This study intends to explore a way of deploying a deep learning model for muscle MRI images to diagnose dystrophinopathies. Methods This study collected 2536 T1WI images from 432 cases who had been diagnosed by genetic analysis and/or muscle biopsy, including 148 cases with dystrophinopathies and 284 cases with other diseases. The data was randomly divided into three sets: the data from 233 cases were used to train the CNN model, the data from 97 cases for the validation experiments, and the data from 102 cases for the test experiments. We also validated our models expertise at diagnosing by comparing the model’s results on the 102 cases with those of three skilled radiologists. Results The proposed model achieved 91% (95% CI: 0.88, 0.93) accuracy on the test set, higher than the best accuracy of 84% in radiologists. It also performed better than the skilled radiologists in sensitivity : sensitivities of the models and the doctors were 0.89 (95% CI: 0.85 0.93) versus 0.79 (95% CI:0.73, 0.84; p = 0.190). Conclusions The deep model achieved excellent accuracy and sensitivity in identifying cases with dystrophinopathies. The comparable performance of the model and skilled radiologists demonstrates the potential application of the model in diagnosing dystrophinopathies through MRI images.
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spelling doaj.art-3eac1ccf74114849b84525b1cf36af532022-12-22T03:14:50ZengBMCBMC Neurology1471-23772021-01-012111910.1186/s12883-020-02036-0A deep learning model for diagnosing dystrophinopathies on thigh muscle MRI imagesMei Yang0Yiming Zheng1Zhiying Xie2Zhaoxia Wang3Jiangxi Xiao4Jue Zhang5Yun Yuan6Department of Neurology, Peking University First HospitalDepartment of Neurology, Peking University First HospitalDepartment of Neurology, Peking University First HospitalDepartment of Neurology, Peking University First HospitalDepartment of Radiology, Peking University First HospitalAcademy for Advanced Interdisciplinary Studies, Peking UniversityDepartment of Neurology, Peking University First HospitalAbstract Background Dystrophinopathies are the most common type of inherited muscular diseases. Muscle biopsy and genetic tests are effective to diagnose the disease but cost much more than primary hospitals can reach. The more available muscle MRI is promising but its diagnostic results highly depends on doctors’ experiences. This study intends to explore a way of deploying a deep learning model for muscle MRI images to diagnose dystrophinopathies. Methods This study collected 2536 T1WI images from 432 cases who had been diagnosed by genetic analysis and/or muscle biopsy, including 148 cases with dystrophinopathies and 284 cases with other diseases. The data was randomly divided into three sets: the data from 233 cases were used to train the CNN model, the data from 97 cases for the validation experiments, and the data from 102 cases for the test experiments. We also validated our models expertise at diagnosing by comparing the model’s results on the 102 cases with those of three skilled radiologists. Results The proposed model achieved 91% (95% CI: 0.88, 0.93) accuracy on the test set, higher than the best accuracy of 84% in radiologists. It also performed better than the skilled radiologists in sensitivity : sensitivities of the models and the doctors were 0.89 (95% CI: 0.85 0.93) versus 0.79 (95% CI:0.73, 0.84; p = 0.190). Conclusions The deep model achieved excellent accuracy and sensitivity in identifying cases with dystrophinopathies. The comparable performance of the model and skilled radiologists demonstrates the potential application of the model in diagnosing dystrophinopathies through MRI images.https://doi.org/10.1186/s12883-020-02036-0Magnetic Resonance ImagingMuscular DiseasesDeep LearningComputer-Assisted Diagnosis
spellingShingle Mei Yang
Yiming Zheng
Zhiying Xie
Zhaoxia Wang
Jiangxi Xiao
Jue Zhang
Yun Yuan
A deep learning model for diagnosing dystrophinopathies on thigh muscle MRI images
BMC Neurology
Magnetic Resonance Imaging
Muscular Diseases
Deep Learning
Computer-Assisted Diagnosis
title A deep learning model for diagnosing dystrophinopathies on thigh muscle MRI images
title_full A deep learning model for diagnosing dystrophinopathies on thigh muscle MRI images
title_fullStr A deep learning model for diagnosing dystrophinopathies on thigh muscle MRI images
title_full_unstemmed A deep learning model for diagnosing dystrophinopathies on thigh muscle MRI images
title_short A deep learning model for diagnosing dystrophinopathies on thigh muscle MRI images
title_sort deep learning model for diagnosing dystrophinopathies on thigh muscle mri images
topic Magnetic Resonance Imaging
Muscular Diseases
Deep Learning
Computer-Assisted Diagnosis
url https://doi.org/10.1186/s12883-020-02036-0
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