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ObjectivesWilson disease (WD) is a rare autosomal recessive disorder caused by a mutation in the ATP7B gene. Neurological symptoms are one of the most common symptoms of WD. This study aims to construct a model that can predict the occurrence of neurological symptoms by combining clinical multidimensional indicators with machine learning methods.MethodsThe study population consisted of WD patients who received treatment at the First Affiliated Hospital of Anhui University of Traditional Chinese Medicine from July 2021 to September 2023 and had a Leipzig score ≥ 4 points. Indicators such as general clinical information, imaging, blood and urine tests, and clinical scale measurements were collected from patients, and machine learning methods were employed to construct a prediction model for neurological symptoms. Additionally, the SHAP method was utilized to analyze clinical information to determine which indicators are associated with neurological symptoms.ResultsIn this study, 185 patients with WD (of whom 163 had neurological symptoms) were analyzed. It was found that using the eXtreme Gradient Boosting (XGB) to predict achieved good performance, with an MCC value of 0.556, ACC value of 0.929, AUROC value of 0.835, and AUPRC value of 0.975. Brainstem damage, blood creatinine (Cr), age, indirect bilirubin (IBIL), and ceruloplasmin (CP) were the top five important predictors. Meanwhile, the presence of brainstem damage and the higher the values of Cr, Age, and IBIL, the more likely neurological symptoms were to occur, while the lower the CP value, the more likely neurological symptoms were to occur.ConclusionsTo sum up, the prediction model constructed using machine learning methods to predict WD cirrhosis has high accuracy. The most important indicators in the prediction model were brainstem damage, Cr, age, IBIL, and CP. It provides assistance for clinical decision-making.

As one of the most important posttranslational modifications (PTMs), protein lysine glycation changes the characteristics of the proteins and leads to the dysfunction of the proteins, which may cause diseases. Accurately detecting the glycation sites is of great benefit for understanding the biological function and potential mechanism of glycation in the treatment of diseases. However, experimental methods are expensive and time-consuming for lysine glycation site identification. Instead, computational methods, with their higher efficiency and lower cost, could be an important supplement to the experimental methods. In this study, we proposed a novel predictor, BERT-Kgly, for protein lysine glycation site prediction, which was developed by extracting embedding features of protein segments from pretrained Bidirectional Encoder Representations from Transformers (BERT) models. Three pretrained BERT models were explored to get the embeddings with optimal representability, and three downstream deep networks were employed to build our models. Our results showed that the model based on embeddings extracted from the BERT model pretrained on 556,603 protein sequences of UniProt outperforms other models. In addition, an independent test set was used to evaluate and compare our model with other existing methods, which indicated that our model was superior to other existing models.