Dataset Information

Automatic Facial Recognition of Williams-Beuren Syndrome Based on Deep Convolutional Neural Networks.

ABSTRACT: Background: Williams-Beuren syndrome (WBS) is a rare genetic syndrome with a characteristic "elfin" facial gestalt. The "elfin" facial characteristics include a broad forehead, periorbital puffiness, flat nasal bridge, short upturned nose, wide mouth, thick lips, and pointed chin. Recently, deep convolutional neural networks (CNNs) have been successfully applied to facial recognition for diagnosing genetic syndromes. However, there is little research on WBS facial recognition using deep CNNs. Objective: The purpose of this study was to construct an automatic facial recognition model for WBS diagnosis based on deep CNNs. Methods: The study enrolled 104 WBS children, 91 cases with other genetic syndromes, and 145 healthy children. The photo dataset used only one frontal facial photo from each participant. Five face recognition frameworks for WBS were constructed by adopting the VGG-16, VGG-19, ResNet-18, ResNet-34, and MobileNet-V2 architectures, respectively. ImageNet transfer learning was used to avoid over-fitting. The classification performance of the facial recognition models was assessed by five-fold cross validation, and comparison with human experts was performed. Results: The five face recognition frameworks for WBS were constructed. The VGG-19 model achieved the best performance. The accuracy, precision, recall, F1 score, and area under curve (AUC) of the VGG-19 model were 92.7 ± 1.3%, 94.0 ± 5.6%, 81.7 ± 3.6%, 87.2 ± 2.0%, and 89.6 ± 1.3%, respectively. The highest accuracy, precision, recall, F1 score, and AUC of human experts were 82.1, 65.9, 85.6, 74.5, and 83.0%, respectively. The AUCs of each human expert were inferior to the AUCs of the VGG-16 (88.6 ± 3.5%), VGG-19 (89.6 ± 1.3%), ResNet-18 (83.6 ± 8.2%), and ResNet-34 (86.3 ± 4.9%) models. Conclusions: This study highlighted the possibility of using deep CNNs for diagnosing WBS in clinical practice. The facial recognition framework based on VGG-19 could play a prominent role in WBS diagnosis. Transfer learning technology can help to construct facial recognition models of genetic syndromes with small-scale datasets.

SUBMITTER: Liu H

PROVIDER: S-EPMC8170407 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:BackgroundNoonan syndrome (NS), a genetically heterogeneous disorder, presents with hypertelorism, ptosis, dysplastic pulmonary valve stenosis, hypertrophic cardiomyopathy, and small stature. Early detection and assessment of NS are crucial to formulating an individualized treatment protocol. However, the diagnostic rate of pediatricians and pediatric cardiologists is limited. To overcome this challenge, we propose an automated facial recognition model to identify NS using a novel deep convolutional neural network (DCNN) with a loss function called additive angular margin loss (ArcFace).MethodsThe proposed automated facial recognition models were trained on dataset that included 127 NS patients, 163 healthy children, and 130 children with several other dysmorphic syndromes. The photo dataset contained only one frontal face image from each participant. A novel DCNN framework with ArcFace loss function (DCNN-Arcface model) was constructed. Two traditional machine learning models and a DCNN model with cross-entropy loss function (DCNN-CE model) were also constructed. Transfer learning and data augmentation were applied in the training process. The identification performance of facial recognition models was assessed by five-fold cross-validation. Comparison of the DCNN-Arcface model to two traditional machine learning models, the DCNN-CE model, and six physicians were performed.ResultsAt distinguishing NS patients from healthy children, the DCNN-Arcface model achieved an accuracy of 0.9201 ± 0.0138 and an area under the receiver operator characteristic curve (AUC) of 0.9797 ± 0.0055. At distinguishing NS patients from children with several other genetic syndromes, it achieved an accuracy of 0.8171 ± 0.0074 and an AUC of 0.9274 ± 0.0062. In both cases, the DCNN-Arcface model outperformed the two traditional machine learning models, the DCNN-CE model, and six physicians.ConclusionThis study shows that the proposed DCNN-Arcface model is a promising way to screen NS patients and can improve the NS diagnosis rate.

Project description:BackgroundPneumothorax can lead to a life-threatening emergency. The experienced radiologists can offer precise diagnosis according to the chest radiographs. The localization of the pneumothorax lesions will help to quickly diagnose, which will be benefit for the patients in the underdevelopment areas lack of the experienced radiologists. In recent years, with the development of large neural network architectures and medical imaging datasets, deep learning methods have become a methodology of choice for analyzing medical images. The objective of this study was to the construct convolutional neural networks to localize the pneumothorax lesions in chest radiographs.Methods and findingsWe developed a convolutional neural network, called CheXLocNet, for the segmentation of pneumothorax lesions. The SIIM-ACR Pneumothorax Segmentation dataset was used to train and validate CheXLocNets. The training dataset contained 2079 radiographs with the annotated lesion areas. We trained six CheXLocNets with various hyperparameters. Another 300 annotated radiographs were used to select parameters of these CheXLocNets as the validation set. We determined the optimal parameters by the AP50 (average precision at the intersection over union (IoU) equal to 0.50), a segmentation evaluation metric used by several well-known competitions. Then CheXLocNets were evaluated by a test set (1082 normal radiographs and 290 disease radiographs), based on the classification metrics: area under the receiver operating characteristic curve (AUC), sensitivity, specificity, and positive predictive value (PPV); segmentation metrics: IoU and Dice score. For the classification, CheXLocNet with best sensitivity produced an AUC of 0.87, sensitivity of 0.78 (95% CI 0.73-0.83), and specificity of 0.78 (95% CI 0.76-0.81). CheXLocNet with best specificity produced an AUC of 0.79, sensitivity of 0.46 (95% CI 0.40-0.52), and specificity of 0.92 (95% CI 0.90-0.94). For the segmentation, CheXLocNet with best sensitivity produced an IoU of 0.69 and Dice score of 0.72. CheXLocNet with best specificity produced an IoU of 0.77 and Dice score of 0.79. We combined them to form an ensemble CheXLocNet. The ensemble CheXLocNet produced an IoU of 0.81 and Dice score of 0.82. Our CheXLocNet succeeded in automatically detecting pneumothorax lesions, without any human guidance.ConclusionsIn this study, we proposed a deep learning network, called, CheXLocNet, for the automatic segmentation of chest radiographs to detect pneumothorax. Our CheXLocNets generated accurate classification results and high-quality segmentation masks for the pneumothorax at the same time. This technology has the potential to improve healthcare delivery and increase access to chest radiograph expertise for the detection of diseases. Furthermore, the segmentation results can offer comprehensive geometric information of lesions, which can benefit monitoring the sequential development of lesions with high accuracy. Thus, CheXLocNets can be further extended to be a reliable clinical decision support tool. Although we used transfer learning in training CheXLocNet, the parameters of CheXLocNet was still large for the radiograph dataset. Further work is necessary to prune CheXLocNet suitable for the radiograph dataset.

Dataset Information

Automatic Facial Recognition of Williams-Beuren Syndrome Based on Deep Convolutional Neural Networks.

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