Diagnosis of Wilson Disease and Its Phenotypes by Using Artificial Intelligence.
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ABSTRACT:
SUBMITTER: Medici V
PROVIDER: S-EPMC8394607 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:BackgroundArtificial intelligence (AI) has been extensively used in a range of medical fields to promote therapeutic development. The development of diverse AI techniques has also contributed to early detections, disease diagnoses, and referral management. However, concerns about the value of advanced AI in disease diagnosis have been raised by health care professionals, medical service providers, and health policy decision makers.ObjectiveThis review aimed to systematically examine the literature, in particular, focusing on the performance comparison between advanced AI and human clinicians to provide an up-to-date summary regarding the extent of the application of AI to disease diagnoses. By doing so, this review discussed the relationship between the current advanced AI development and clinicians with respect to disease diagnosis and thus therapeutic development in the long run.MethodsWe systematically searched articles published between January 2000 and March 2019 following the Preferred Reporting Items for Systematic reviews and Meta-Analysis in the following databases: Scopus, PubMed, CINAHL, Web of Science, and the Cochrane Library. According to the preset inclusion and exclusion criteria, only articles comparing the medical performance between advanced AI and human experts were considered.ResultsA total of 9 articles were identified. A convolutional neural network was the commonly applied advanced AI technology. Owing to the variation in medical fields, there is a distinction between individual studies in terms of classification, labeling, training process, dataset size, and algorithm validation of AI. Performance indices reported in articles included diagnostic accuracy, weighted errors, false-positive rate, sensitivity, specificity, and the area under the receiver operating characteristic curve. The results showed that the performance of AI was at par with that of clinicians and exceeded that of clinicians with less experience.ConclusionsCurrent AI development has a diagnostic performance that is comparable with medical experts, especially in image recognition-related fields. Further studies can be extended to other types of medical imaging such as magnetic resonance imaging and other medical practices unrelated to images. With the continued development of AI-assisted technologies, the clinical implications underpinned by clinicians' experience and guided by patient-centered health care principle should be constantly considered in future AI-related and other technology-based medical research.
| S-EPMC6716335 | biostudies-literature
Project description:BackgroundParkinson's disease (PD) is the second most common neurodegenerative disease. An objective diagnosis method is urgently needed in clinical practice. In this study, deep learning and radiomics techniques were studied to automatically diagnose PD from healthy controls (HCs).Methods155 PD patients and 154 HCs were randomly divided into a training set (246 patients) and a testing set (63 patients). The brain subregions identification and segmentation were automatically performed with a VB-net, and radiomics features of billateral thalamus, caudatum, putamen and pallidum were extracted. Five independent machine learning classifiers [Support Vector Machine (SVM), Stochastic gradient descent (SGD), random forest (RF), quadratic discriminant analysis (QDA) and decision tree (DT)] were trained on the training set, and validated on the testing. Delong test was used to compare the performance of different models.ResultsOur VB-net could automatically identify and segment the brain into 109 regions. 2,264 radiomics features were automatically extracted from the billateral thalamus, caudatum, putamen or pallidum of each patient. After four step of features dimensionality reduction, Delong tests showed that the SVM model based on combined features had the best performance, with AUCs of 0.988 (95% CI: 0.979 ~ 0.998, specificity = 91.1%, sensitivity =100%, accuracy = 89.4% and precision = 88.2%) and 0.976 (95% CI: 0.942 ~ 1.000, specificity = 100%, sensitivity = 87.1%, accuracy = 93.5% and precision = 88.6%) in the training set and testing set, respectively. Decision curve analysis showed that the clinical benefit of the line graph model was high.ConclusionThe SVM model based on combined features could be used to diagnose PD with high accuracy. Our fully automatic model could rapidly process the MRI data and distinguish PD and HCs in one minute. It greatly improved the diagnostic efficiency and has a great potential value in clinical practice to help the early diagnosis of PD.
| S-EPMC10797132 | biostudies-literature
Project description:Background Radiologists are proficient in differentiating between chest radiographs with and without symptoms of pneumonia but have found it more challenging to differentiate coronavirus disease 2019 (COVID-19) pneumonia from non-COVID-19 pneumonia on chest radiographs. Purpose To develop an artificial intelligence algorithm to differentiate COVID-19 pneumonia from other causes of abnormalities at chest radiography. Materials and Methods In this retrospective study, a deep neural network, CV19-Net, was trained, validated, and tested on chest radiographs in patients with and without COVID-19 pneumonia. For the chest radiographs positive for COVID-19, patients with reverse transcription polymerase chain reaction results positive for severe acute respiratory syndrome coronavirus 2 with findings positive for pneumonia between February 1, 2020, and May 30, 2020, were included. For the non-COVID-19 chest radiographs, patients with pneumonia who underwent chest radiography between October 1, 2019, and December 31, 2019, were included. Area under the receiver operating characteristic curve (AUC), sensitivity, and specificity were calculated to characterize diagnostic performance. To benchmark the performance of CV19-Net, a randomly sampled test data set composed of 500 chest radiographs in 500 patients was evaluated by the CV19-Net and three experienced thoracic radiologists. Results A total of 2060 patients (5806 chest radiographs; mean age, 62 years ± 16 [standard deviation]; 1059 men) with COVID-19 pneumonia and 3148 patients (5300 chest radiographs; mean age, 64 years ± 18; 1578 men) with non-COVID-19 pneumonia were included and split into training and validation and test data sets. For the test set, CV19-Net achieved an AUC of 0.92 (95% CI: 0.91, 0.93). This corresponded to a sensitivity of 88% (95% CI: 87, 89) and a specificity of 79% (95% CI: 77, 80) by using a high-sensitivity operating threshold, or a sensitivity of 78% (95% CI: 77, 79) and a specificity of 89% (95% CI: 88, 90) by using a high-specificity operating threshold. For the 500 sampled chest radiographs, CV19-Net achieved an AUC of 0.94 (95% CI: 0.93, 0.96) compared with an AUC of 0.85 (95% CI: 0.81, 0.88) achieved by radiologists. Conclusion CV19-Net was able to differentiate coronavirus disease 2019-related pneumonia from other types of pneumonia, with performance exceeding that of experienced thoracic radiologists. © RSNA, 2021 Online supplemental material is available for this article.
| S-EPMC7841876 | biostudies-literature
Project description:Convolutional neural networks (CNNs) are widely used for artificial intelligence (AI)-based image classification. Residual network (ResNet) is a new technology that facilitates the accuracy of image classification by CNN-based AI. In this study, we developed a novel AI model combined with ResNet to diagnose colorectal polyps. In total, 127,610 images consisting of 62,510 images with adenomatous polyps, 30,443 with non-adenomatous hyperplastic polyps, and 34,657 with healthy colorectal normal mucosa were subjected to deep learning after annotation. Each validation process was performed using 12,761 stored images of colorectal polyps by a 10-fold cross validation. The efficacy of the ResNet system was evaluated by sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), and diagnostic accuracy. The sensitivity, specificity, PPV, NPV, and diagnostic accuracy for adenomatous polyps at WLIs were 98.8%, 94.3%, 90.5%, 87.4%, and 92.8%, respectively. Similar results were obtained for adenomatous polyps at narrow-band imagings (NBIs) and chromoendoscopy images (CEIs) (NBIs vs. CEIs: sensitivity, 94.9% vs. 98.2%; specificity, 93.9% vs. 85.8%; PPV, 92.5% vs. 81.7%; NPV, 93.5% vs. 99.9%; and overall accuracy, 91.5% vs. 90.1%). The ResNet model is a powerful tool that can be used for AI-based accurate diagnosis of colorectal polyps.
| S-EPMC8219125 | biostudies-literature
Project description:Wilson's disease (WD) is a rare autosomal recessive disease due to mutations of the gene encoding the copper-transporter ATP7B. The diagnosis is hampered by the variability of symptoms induced by copper accumulation, the inconstancy of the pathognomonic signs and the absence of a reliable diagnostic test. We investigated the diagnostic potential of X-ray fluorescence (XRF) that allows quantitative analysis of multiple elements. Studies were performed on animal models using Wistar rats (n = 10) and Long Evans Cinnamon (LEC) rats (n = 11), and on human samples including normal livers (n = 10), alcohol cirrhosis (n = 8), haemochromatosis (n = 10), cholestasis (n = 6) and WD (n = 22). XRF experiments were first performed using synchrotron radiation to address the elemental composition at the cellular level. High-resolution mapping of tissue sections allowed measurement of the intensity and the distribution of copper, iron and zinc while preserving the morphology. Investigations were further conducted using a laboratory X-ray source for irradiating whole pieces of tissue. The sensitivity of XRF was highlighted by the discrimination of LEC rats from wild type even under a regimen using copper deficient food. XRF on whole formalin-fixed paraffin embedded needle biopsies allowed profiling of the elements in a few minutes. The intensity of copper related to iron and zinc significantly discriminated WD from other genetic or chronic liver diseases with 97.6% specificity and 100% sensitivity. This study established a definite diagnosis of Wilson's disease based on XRF. This rapid and versatile method can be easily implemented in a clinical setting.
| S-EPMC4958738 | biostudies-literature
Project description:BackgroundAccurate and robust pathological image analysis for colorectal cancer (CRC) diagnosis is time-consuming and knowledge-intensive, but is essential for CRC patients' treatment. The current heavy workload of pathologists in clinics/hospitals may easily lead to unconscious misdiagnosis of CRC based on daily image analyses.MethodsBased on a state-of-the-art transfer-learned deep convolutional neural network in artificial intelligence (AI), we proposed a novel patch aggregation strategy for clinic CRC diagnosis using weakly labeled pathological whole-slide image (WSI) patches. This approach was trained and validated using an unprecedented and enormously large number of 170,099 patches, > 14,680 WSIs, from > 9631 subjects that covered diverse and representative clinical cases from multi-independent-sources across China, the USA, and Germany.ResultsOur innovative AI tool consistently and nearly perfectly agreed with (average Kappa statistic 0.896) and even often better than most of the experienced expert pathologists when tested in diagnosing CRC WSIs from multicenters. The average area under the receiver operating characteristics curve (AUC) of AI was greater than that of the pathologists (0.988 vs 0.970) and achieved the best performance among the application of other AI methods to CRC diagnosis. Our AI-generated heatmap highlights the image regions of cancer tissue/cells.ConclusionsThis first-ever generalizable AI system can handle large amounts of WSIs consistently and robustly without potential bias due to fatigue commonly experienced by clinical pathologists. It will drastically alleviate the heavy clinical burden of daily pathology diagnosis and improve the treatment for CRC patients. This tool is generalizable to other cancer diagnosis based on image recognition.
| S-EPMC7986569 | biostudies-literature
Project description:Sepsis is a leading cause of death in hospitals. Early prediction and diagnosis of sepsis, which is critical in reducing mortality, is challenging as many of its signs and symptoms are similar to other less critical conditions. We develop an artificial intelligence algorithm, SERA algorithm, which uses both structured data and unstructured clinical notes to predict and diagnose sepsis. We test this algorithm with independent, clinical notes and achieve high predictive accuracy 12 hours before the onset of sepsis (AUC 0.94, sensitivity 0.87 and specificity 0.87). We compare the SERA algorithm against physician predictions and show the algorithm's potential to increase the early detection of sepsis by up to 32% and reduce false positives by up to 17%. Mining unstructured clinical notes is shown to improve the algorithm's accuracy compared to using only clinical measures for early warning 12 to 48 hours before the onset of sepsis.
| S-EPMC7846756 | biostudies-literature
Project description:The diagnostic possibilities of multiphoton tomography (MPT) in dermatology have already been demonstrated. Nevertheless, the analysis of MPT data is still time-consuming and operator dependent. We propose a fully automatic approach based on convolutional neural networks (CNNs) to fully realize the potential of MPT. In total, 3,663 MPT images combining both morphological and metabolic information were acquired from atopic dermatitis (AD) patients and healthy volunteers. These were used to train and tune CNNs to detect the presence of living cells, and if so, to diagnose AD, independently of imaged layer or position. The proposed algorithm correctly diagnosed AD in 97.0?±?0.2% of all images presenting living cells. The diagnosis was obtained with a sensitivity of 0.966?±?0.003, specificity of 0.977?±?0.003 and F-score of 0.964?±?0.002. Relevance propagation by deep Taylor decomposition was used to enhance the algorithm's interpretability. Obtained heatmaps show what aspects of the images are important for a given classification. We showed that MPT imaging can be combined with artificial intelligence to successfully diagnose AD. The proposed approach serves as a framework for the automatic diagnosis of skin disorders using MPT.
| S-EPMC7224284 | biostudies-literature
Project description:The diagnosis of heart failure can be difficult, even for heart failure specialists. Artificial Intelligence-Clinical Decision Support System (AI-CDSS) has the potential to assist physicians in heart failure diagnosis. The aim of this work was to evaluate the diagnostic accuracy of an AI-CDSS for heart failure. AI-CDSS for cardiology was developed with a hybrid (expert-driven and machine-learning-driven) approach of knowledge acquisition to evolve the knowledge base with heart failure diagnosis. A retrospective cohort of 1198 patients with and without heart failure was used for the development of AI-CDSS (training dataset, n = 600) and to test the performance (test dataset, n = 598). A prospective clinical pilot study of 97 patients with dyspnea was used to assess the diagnostic accuracy of AI-CDSS compared with that of non-heart failure specialists. The concordance rate between AI-CDSS and heart failure specialists was evaluated. In retrospective cohort, the concordance rate was 98.3% in the test dataset. The concordance rate for patients with heart failure with reduced ejection fraction, heart failure with mid-range ejection fraction, heart failure with preserved ejection fraction, and no heart failure was 100%, 100%, 99.6%, and 91.7%, respectively. In a prospective pilot study of 97 patients presenting with dyspnea to the outpatient clinic, 44% had heart failure. The concordance rate between AI-CDSS and heart failure specialists was 98%, whereas that between non-heart failure specialists and heart failure specialists was 76%. In conclusion, AI-CDSS showed a high diagnostic accuracy for heart failure. Therefore, AI-CDSS may be useful for the diagnosis of heart failure, especially when heart failure specialists are not available.
| S-EPMC7142093 | biostudies-literature
Project description:BackgroundArtificial intelligence (AI) algorithms have been applied to diagnose temporomandibular disorders (TMDs). However, studies have used different patient selection criteria, disease subtypes, input data, and outcome measures. Resultantly, the performance of the AI models varies.ObjectiveThis study aimed to systematically summarize the current literature on the application of AI technologies for diagnosis of different TMD subtypes, evaluate the quality of these studies, and assess the diagnostic accuracy of existing AI models.Materials and methodsThe study protocol was carried out based on the preferred reporting items for systematic review and meta-analysis protocols (PRISMA). The PubMed, Embase, and Web of Science databases were searched to find relevant articles from database inception to June 2022. Studies that used AI algorithms to diagnose at least one subtype of TMD and those that assessed the performance of AI algorithms were included. We excluded studies on orofacial pain that were not directly related to the TMD, such as studies on atypical facial pain and neuropathic pain, editorials, book chapters, and excerpts without detailed empirical data. The risk of bias was assessed using the QUADAS-2 tool. We used Grading of Recommendations, Assessment, Development, and Evaluations (GRADE) to provide certainty of evidence.ResultsA total of 17 articles for automated diagnosis of masticatory muscle disorders, TMJ osteoarthrosis, internal derangement, and disc perforation were included; they were retrospective studies, case-control studies, cohort studies, and a pilot study. Seven studies were subjected to a meta-analysis for diagnostic accuracy. According to the GRADE, the certainty of evidence was very low. The performance of the AI models had accuracy and specificity ranging from 84% to 99.9% and 73% to 100%, respectively. The pooled accuracy was 0.91 (95% CI 0.76-0.99), I2 = 97% (95% CI 0.96-0.98), p < 0.001.ConclusionsVarious AI algorithms developed for diagnosing TMDs may provide additional clinical expertise to increase diagnostic accuracy. However, it should be noted that a high risk of bias was present in the included studies. Also, certainty of evidence was very low. Future research of higher quality is strongly recommended.
| S-EPMC9387829 | biostudies-literature