确定脑瘫的潜在生物标志物并开发预测模型。

IF 2.8 4区 医学 Q2 MEDICINE, RESEARCH & EXPERIMENTAL Experimental Biology and Medicine Pub Date : 2024-07-09 eCollection Date: 2024-01-01 DOI:10.3389/ebm.2024.10101
Haoyang Zheng, Duo Zhang, Yong Gan, Zesheng Peng, Yuyi Wu, Wei Xiang
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引用次数: 0

摘要

脑性瘫痪(CP)是一种常见的运动障碍疾病,源于早期脑损伤或畸形,其临床表现和病因有很大差异。由于缺乏可靠的生物标志物,阻碍了早期诊断和个性化治疗干预。本研究旨在确定脑瘫的潜在生物标志物,并开发预测模型,以提高早期诊断和预后。我们对 CP 患者肌肉样本的基因表达谱进行了全面的生物信息学分析,以确定候选生物标志物。我们在一个独立队列中验证了六个关键基因(CKMT2、TNNT2、MYH4、MYH1、GOT1 和 LPL),并分析了参与 CP 发病机制的潜在生物通路和分子网络。研究强调了功能调节、能量代谢和细胞信号通路等过程在 CP 患者肌肉中的重要性。建立了与 CP 相关的肌肉样本生物标记物预测模型,并将其可视化。校准曲线和接收器操作特征分析表明,预测模型在区分有患心绞痛风险的个体方面具有很高的灵敏度和特异性。已确定的生物标志物和已开发的预测模型为 CP 的早期诊断和个性化管理提供了巨大的潜力。未来的研究应侧重于在更大的群体中验证这些生物标志物,并将其纳入临床实践,以改善 CP 患者的预后。
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Identification of potential biomarkers for cerebral palsy and the development of prediction models.

Cerebral palsy (CP) is a prevalent motor disorder originating from early brain injury or malformation, with significant variability in its clinical presentation and etiology. Early diagnosis and personalized therapeutic interventions are hindered by the lack of reliable biomarkers. This study aims to identify potential biomarkers for cerebral palsy and develop predictive models to enhance early diagnosis and prognosis. We conducted a comprehensive bioinformatics analysis of gene expression profiles in muscle samples from CP patients to identify candidate biomarkers. Six key genes (CKMT2, TNNT2, MYH4, MYH1, GOT1, and LPL) were validated in an independent cohort, and potential biological pathways and molecular networks involved in CP pathogenesis were analyzed. The importance of processes such as functional regulation, energy metabolism, and cell signaling pathways in the muscles of CP patients was emphasized. Predictive models of muscle sample biomarkers related to CP were developed and visualized. Calibration curves and receiver operating characteristic analysis demonstrated that the predictive models exhibit high sensitivity and specificity in distinguishing individuals at risk of CP. The identified biomarkers and developed prediction models offer significant potential for early diagnosis and personalized management of CP. Future research should focus on validating these biomarkers in larger cohorts and integrating them into clinical practice to improve outcomes for individuals with CP.

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来源期刊
Experimental Biology and Medicine
Experimental Biology and Medicine 医学-医学:研究与实验
CiteScore
6.00
自引率
0.00%
发文量
157
审稿时长
1 months
期刊介绍: Experimental Biology and Medicine (EBM) is a global, peer-reviewed journal dedicated to the publication of multidisciplinary and interdisciplinary research in the biomedical sciences. EBM provides both research and review articles as well as meeting symposia and brief communications. Articles in EBM represent cutting edge research at the overlapping junctions of the biological, physical and engineering sciences that impact upon the health and welfare of the world''s population. Topics covered in EBM include: Anatomy/Pathology; Biochemistry and Molecular Biology; Bioimaging; Biomedical Engineering; Bionanoscience; Cell and Developmental Biology; Endocrinology and Nutrition; Environmental Health/Biomarkers/Precision Medicine; Genomics, Proteomics, and Bioinformatics; Immunology/Microbiology/Virology; Mechanisms of Aging; Neuroscience; Pharmacology and Toxicology; Physiology; Stem Cell Biology; Structural Biology; Systems Biology and Microphysiological Systems; and Translational Research.
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