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与创伤性脑损伤后认知和功能结果相关的临床、神经影像学和基因标志物

Clinical, Neuroimaging, and Genetic Markers Associated with Cognitive and Functional Outcomes After Traumatic Brain Injury.

作者信息

Duve Khrystyna, Shkrobot Svitlana, Petakh Pavlo, Oksenych Valentyn, Kamyshnyi Oleksandr

机构信息

Department of Neurology, I. Horbachevsky Ternopil National Medical University, 46001 Ternopil, Ukraine.

Department of Biochemistry and Pharmacology, Uzhhorod National University, 88000 Uzhhorod, Ukraine.

出版信息

J Clin Med. 2025 Apr 18;14(8):2796. doi: 10.3390/jcm14082796.

Abstract

: Traumatic brain injury (TBI) is a major cause of long-term disability worldwide, often leading to progressive cognitive and functional impairments. This study aimed to investigate the underlying factors contributing to long-term deterioration in TBI patients. : We conducted a comprehensive evaluation of 145 patients aged 18-66 years with a documented history of TBI and ongoing cognitive and behavioral deficits. Assessments included neuroimaging, laboratory tests, genetic analysis, and standardized tools such as the Montreal Cognitive Assessment (MoCA) and the Barthel Index. : Structural brain abnormalities, including ventricular enlargement and gliosis, were observed in a substantial portion of the cohort. Persistent neuroinflammatory markers were also identified. Genetic analysis revealed a significant association between cognitive decline and polymorphisms in the and genes. Patients carrying these variants were more likely to exhibit reduced cognitive performance and greater functional limitations. : These findings suggest that genetic predisposition, chronic neuroinflammation, and structural brain damage collectively contribute to long-term outcomes following TBI. This highlights the potential of genetic and imaging biomarkers in identifying high-risk individuals and supports the need for personalized approaches to diagnosis, monitoring, and treatment in chronic TBI management.

摘要

创伤性脑损伤(TBI)是全球长期残疾的主要原因,常常导致进行性认知和功能障碍。本研究旨在调查导致TBI患者长期病情恶化的潜在因素。我们对145名年龄在18至66岁之间、有TBI病史且存在持续认知和行为缺陷的患者进行了全面评估。评估包括神经影像学、实验室检查、基因分析以及蒙特利尔认知评估(MoCA)和巴氏指数等标准化工具。在相当一部分队列中观察到了结构性脑异常,包括脑室扩大和胶质增生。还确定了持续存在的神经炎症标志物。基因分析显示认知能力下降与[具体基因1]和[具体基因2]基因多态性之间存在显著关联。携带这些变体的患者更有可能表现出认知能力下降和更大的功能限制。这些发现表明,遗传易感性、慢性神经炎症和结构性脑损伤共同影响TBI后的长期预后。这凸显了基因和影像学生物标志物在识别高危个体方面的潜力,并支持在慢性TBI管理中采用个性化的诊断、监测和治疗方法。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3e9e/12027744/c80464820a87/jcm-14-02796-g001.jpg

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