研究者が一般的な脳障害の新しいサブタイプを定義(Researchers define new subtypes of common brain disorder)

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2024-11-18 ワシントン大学セントルイス校

ワシントン大学セントルイス校の研究者は、人工知能(AI)を活用して、脳の先天性奇形であるキアリ奇形1型を3つのサブタイプに分類しました。キアリ奇形1型は、小脳が頭蓋骨底部の開口部から脊髄管内に突出する状態で、頭痛や嚥下困難、筋力低下などの症状を引き起こすことがあります。研究チームは、1,200人以上の患者データを分析し、AIを用いて異なる解剖学的特徴と症状のパターンを持つ3つのサブタイプを特定しました。この分類は、患者ごとに最適な治療法の選択を支援し、手術の必要性や予後の予測に役立つと期待されています。

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人工知能を用いてキアリ1型奇形と脊髄空洞症の3つの表現型を同定 Using Artificial Intelligence to Identify Three Presenting Phenotypes of Chiari Type-1 Malformation and Syringomyelia

Gupta, Vivek Prakash MD; Xu, Ziqi BS; Greenberg, Jacob K. MD, MSCI; Strahle, Jennifer Mae MD; Haller, Gabriel PhD; Meehan, Thanda RN, BSN; Roberts, Ashley BS; Limbrick, David D. Jr MD, PhD; Lu, Chenyang PhD
Neurosurgery  Published:November 18, 2024
DOI:10.1227/neu.0000000000003249

研究者が一般的な脳障害の新しいサブタイプを定義(Researchers define new subtypes of common brain disorder)

Abstract

BACKGROUND AND OBJECTIVES:
Chiari type-1 malformation (CM1) and syringomyelia (SM) are common related pediatric neurosurgical conditions with heterogeneous clinical and radiological presentations that offer challenges related to diagnosis and management. Artificial intelligence (AI) techniques have been used in other fields of medicine to identify different phenotypic clusters that guide clinical care. In this study, we use a novel, combined data-driven and clinician input feature selection process and AI clustering to differentiate presenting phenotypes of CM1 + SM.

METHODS:
A total of 1340 patients with CM1 + SM in the Park Reeves Syringomyelia Research Consortium registry were split a priori into internal and external cohorts by site of enrollment. The internal cohort was used for feature selection and clustering. Features with high Laplacian scores were identified from preselected groups of clinically relevant variables. An expert clinician survey further identified features for inclusion that were not selected by the data-driven process.

RESULTS:
The feature selection process identified 33 features (28 from the data-driven process and 5 from the clinician survey) from an initial pool of 582 variables that were incorporated into the final model. A K-modes clustering algorithm was used to identify an optimum of 3 clusters in the internal cohort. An identical process was performed independently in the external cohort with similar results. Cluster 1 was defined by older CM1 diagnosis age, small syringes, lower tonsil position, more headaches, and fewer other comorbidities. Cluster 2 was defined by younger CM1 diagnosis age, more bulbar symptoms and hydrocephalus, small syringes, more congenital medical issues, and more previous neurosurgical procedures. Cluster 3 was defined by largest syringes, highest prevalence of spine deformity, fewer headaches, less tonsillar ectopia, and more motor deficits.

CONCLUSION:
This is the first study that uses an AI clustering algorithm combining a data-driven feature selection process with clinical expertise to identify different presenting phenotypes of CM1 + SM.

医療・健康
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