CHRONIC ALCOHOL-INDUCED ENCEPHALOPATHY: PREDICTORS OF COGNITIVE IMPAIRMENT AND FUNCTIONAL DISABILITY

K. Duve
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Abstract

Introduction: Predicting the risk of cognitive dysfunction and disability in everyday life among chronic alcohol-induced encephalopathy (CAIE) patients allows timely treatment to prevent dementia. The aim: to develop a mathematical model for predicting the risk of developing cognitive disorders and functional disability in patients with CAIE based on the analysis of polymorphic variants of the genes ACE, AT2R1, eNOS, PON1, IL-1β, IL-10, TNF-α, as well as cofactors (gender, age group, the disease duration, and presence/absence of somatic comorbidity). Materials and methods: We examined the 102 patients with CAIE who were undergoing inpatient treatment in the communal non-profit enterprise «Ternopil Regional Clinical Psychoneurological Hospital» during 2021-2022 and were included in the retrospective analysis. The molecular-genetic testing was performed for 26 patients of the general group. The molecular-genetic differentiation of the studied polymorphic variants of genes was carried out in the molecular-genetic laboratory of the state institution «Reference Centre for Molecular Diagnostics of the Ministry of Health of Ukraine», Kyiv. Cognitive functions were assessed using the Montreal Cognitive Test (MoCA); activities of daily living were assessed using the Barthel index. A logistic regression analysis was performed to determine the risk of cognitive impairment and functional disability developing in patients with CAIE. Results: Analyzing polymorphic variants of the ACE, AT2R1, eNOS, PON1, IL-1β, IL-10, TNF-α genes, as well as such cofactors as gender, age group, history and presence/absence of somatic comorbidity in the context of the development of cognitive disorders in patients with CAIE it has been established that the C108T polymorphism of the PON1 gene has the most significant prognostic value (in the presence of the T/T genotype, the probability of cognitive impairment is 39.84 %). At the same time, carriage of both the T allele and the C allele of the PON1 gene is associated with a significant decrease in the MoCA score. Regarding the development of functional disability in patients with CAIE, the C108T polymorphism of the PON1 gene also has the most significant prognostic value (in the presence of the T/T genotype, the probability of functional disability is 48.08 %, respectively, C/C – 30.96 % and CT – 39.22 %, however, no statistically significant differences in the Barthel index values were found in carriers of the above genotypes). Conclusions: It was established that the C108T polymorphism of the PON1 gene is significantly associated with the development of cognitive impairment and functional disability in patients with CAIE, which indicates the feasibility of further studies involving a larger sample of patients.
慢性酒精性脑病:认知障碍和功能障碍的预测因素
简介预测慢性酒精性脑病(CAIE)患者在日常生活中出现认知功能障碍和残疾的风险,有助于及时治疗以预防痴呆症。 目的:根据对 ACE、AT2R1、eNOS、PON1、IL-1β、IL-10、TNF-α 基因多态性变异的分析,以及辅助因素(性别、年龄组、病程、有无躯体合并症)的分析,建立一个数学模型,用于预测慢性酒精性脑病患者出现认知障碍和功能障碍的风险。 材料与方法我们对 2021-2022 年期间在社区非营利企业 "捷尔诺皮尔地区临床精神神经医院 "接受住院治疗的 102 名 CAIE 患者进行了研究,并将其纳入回顾性分析。对普通组的 26 名患者进行了分子遗传学检测。所研究基因多态变体的分子遗传学分化在基辅国家机构 "乌克兰卫生部分子诊断参考中心 "的分子遗传学实验室进行。认知功能采用蒙特利尔认知测试(MoCA)进行评估;日常生活活动采用巴特尔指数进行评估。为确定CAIE患者出现认知障碍和功能障碍的风险,进行了逻辑回归分析。 结果显示通过分析ACE、AT2R1、eNOS、PON1、IL-1β、IL-10、TNF-α基因的多态性变异以及性别、年龄组、病史和有/无躯体合并症等辅助因素,确定PON1基因的C108T多态性对CAIE患者认知障碍的发展具有最重要的预后价值(出现T/T基因型时,认知障碍的概率为39.84 %).同时,同时携带 PON1 基因的 T 等位基因和 C 等位基因与 MoCA 评分的显著下降有关。关于 CAIE 患者功能残疾的发展,PON1 基因的 C108T 多态性也具有最重要的预后价值(存在 T/T 基因型时,功能残疾的概率为 48.08%,C/C 和 CT 分别为 30.96% 和 39.22%,但上述基因型携带者的 Barthel 指数值在统计学上无显著差异)。 结论研究证实,PON1 基因的 C108T 多态性与 CAIE 患者认知障碍和功能障碍的发展有显著相关性,这表明对更多患者样本进行进一步研究是可行的。
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