Non‐Invasive Diagnosis of Moyamoya Disease Using Serum Metabolic Fingerprints and Machine Learning

Moyamoya disease (MMD) is a progressive cerebrovascular disorder that increases the risk of intracranial ischemia and hemorrhage. Timely diagnosis and intervention can significantly reduce the risk of new-onset stroke in patients with MMD. However, the current diagnostic methods are invasive and expensive, and non-invasive diagnosis using biomarkers of MMD is rarely reported. To address this issue, nanoparticle-enhanced laser desorption/ionization mass spectrometry (LDI MS) was employed to record serum metabolic fingerprints (SMFs) with the aim of establishing a non-invasive diagnosis method for MMD. Subsequently, a diagnostic model was developed based on deep learning algorithms, which exhibited high accuracy in differentiating the MMD group from the HC group (AUC = 0.958, 95% CI of 0.911 to 1.000). Additionally, hierarchical clustering analysis revealed a significant association between SMFs across different groups and vascular cognitive impairment in MMD. This approach holds promise as a novel and intuitive diagnostic method for MMD. Furthermore, the study may have broader implications for the diagnosis of other neurological disorders.

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Publication Details

Journal
Advanced Science
Published
2024-12-31
DOI
https://doi.org/10.1002/advs.202405580
Citations
11
Primary Topic
Moyamoya disease diagnosis and treatment
Type
article
Field-Weighted Citation Impact
5.17

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Non‐Invasive Diagnosis of Moyamoya Disease Using Serum Metabolic Fingerprints and Machine Learning

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Advanced Science
Moyamoya disease diagnosis and treatment
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article

Non‐Invasive Diagnosis of Moyamoya Disease Using Serum Metabolic Fingerprints and Machine Learning

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article en
11 citations

Abstract

Moyamoya disease (MMD) is a progressive cerebrovascular disorder that increases the risk of intracranial ischemia and hemorrhage. Timely diagnosis and intervention can significantly reduce the risk of new-onset stroke in patients with MMD. However, the current diagnostic methods are invasive and expensive, and non-invasive diagnosis using biomarkers of MMD is rarely reported. To address this issue, nanoparticle-enhanced laser desorption/ionization mass spectrometry (LDI MS) was employed to record serum metabolic fingerprints (SMFs) with the aim of establishing a non-invasive diagnosis method for MMD. Subsequently, a diagnostic model was developed based on deep learning algorithms, which exhibited high accuracy in differentiating the MMD group from the HC group (AUC = 0.958, 95% CI of 0.911 to 1.000). Additionally, hierarchical clustering analysis revealed a significant association between SMFs across different groups and vascular cognitive impairment in MMD. This approach holds promise as a novel and intuitive diagnostic method for MMD. Furthermore, the study may have broader implications for the diagnosis of other neurological disorders.

Advanced ScienceVol. 12(8)
Fujian Medical University (CN), Shanghai Jiao Tong University (CN), Fudan University (CN), Renji Hospital (CN), First Affiliated Hospital of Fujian Medical University (CN), State Key Laboratory of Oncogene and Related Genes (CN), Huashan Hospital (CN), Liaocheng People's Hospital (CN)
National Natural Science Foundation of China, Shanghai Municipal Education Commission, Department of Science and Technology of Sichuan Province, Shanghai Jiao Tong University, Peking Union Medical College Hospital, National Science and Technology Major Project
Openalex Percentile: Top 4%
Moyamoya disease diagnosis and treatment
5.17
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