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Investigating the Role of Gene Polymorphisms in Hypertension: Evidence from the Jordanian Population. 研究基因多态性在高血压中的作用:来自约旦人群的证据。
IF 2.8 Q2 PERIPHERAL VASCULAR DISEASE Pub Date : 2025-09-03 eCollection Date: 2025-01-01 DOI: 10.2147/VHRM.S536434
Ola Al-Sanabra, Laith Al-Eitan, Maryam Alasmar, Islam Bani Khalid

Purpose: Hypertension (HTN) is a complex disorder regulated by multiple physiological systems. Each individual's underlying genetic architecture strongly influences inter-individual variability in therapeutic responses to HTN. Consequently, identifying candidate genes that contribute to the genetic basis of HTN remains a significant challenge. This study aims to investigate the association between eleven polymorphisms across eight candidate genes and HTN in the Jordanian population.

Patients and methods: This study included 200 patients with hypertension from Jordan and 224 healthy controls. Whole blood samples were collected from each participant, followed by the extraction of genomic DNA. The distribution of polymorphisms in the genes VEGFA, NAT2, TANC2, NR3C2, PROX1, PTGER3, TLE1, and PRKCA was investigated. Haplotype, genotype, and allele frequencies were analyzed using the SNPStats web tool.

Results: In the Jordanian population, significant differences were observed in the frequency of the A/A genotype of rs699947 in VEGFA and the G/A genotype of rs2429427 in TANC2 (P = 0.006 and 0.042, respectively) between healthy individuals and those with hypertension. No significant associations were detected for the other SNPs analyzed with hypertension incidence. Additionally, significant differences were noted in the codominant and recessive models of VEGFA rs699947, the recessive model of NAT2 rs1041983, the dominant and overdominant models of TANC2 rs2429427, and the overdominant model of NR3C2 rs5522 between the groups. Overall, the genotype distributions of the VEGFA and TANC2 genes differed significantly between healthy individuals and those with hypertension.

Conclusion: These findings highlight the potential of incorporating genetic profiling into clinical practice to enable more precise, genotype-guided hypertension management, paving the way for personalized therapeutic strategies in affected populations.

目的:高血压(HTN)是一种由多种生理系统调控的复杂疾病。每个个体潜在的遗传结构强烈影响HTN治疗反应的个体间差异。因此,确定HTN遗传基础的候选基因仍然是一个重大挑战。本研究旨在调查约旦人群中8个候选基因的11个多态性与HTN之间的关系。患者和方法:本研究包括200名来自约旦的高血压患者和224名健康对照。从每个参与者身上采集全血样本,然后提取基因组DNA。研究了VEGFA、NAT2、TANC2、NR3C2、PROX1、PTGER3、TLE1、PRKCA等基因的多态性分布。使用SNPStats网络工具分析单倍型、基因型和等位基因频率。结果:在约旦人群中,VEGFA中rs699947的A/A基因型频率和TANC2中rs2429427的G/A基因型频率在健康个体和高血压患者之间存在显著差异(P值分别为0.006和0.042)。其他snp与高血压发病率分析未发现显著相关性。此外,VEGFA rs699947共显性和隐性模型、NAT2 rs1041983隐性模型、TANC2 rs2429427显性和过显性模型、NR3C2 rs5522过显性模型在组间也存在显著差异。总体而言,VEGFA和TANC2基因的基因型分布在健康个体和高血压患者之间存在显著差异。结论:这些发现强调了将基因图谱纳入临床实践的潜力,以实现更精确的、基因型引导的高血压管理,为受影响人群的个性化治疗策略铺平道路。
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引用次数: 0
Vascular Endothelium in Health and Disease: Structure, Function, Assessment and Role in Metabolic Disorders. 健康与疾病中的血管内皮:结构、功能、评估及其在代谢紊乱中的作用。
IF 2.8 Q2 PERIPHERAL VASCULAR DISEASE Pub Date : 2025-09-03 eCollection Date: 2025-01-01 DOI: 10.2147/VHRM.S519426
Waldemar Pluta, Anna Lubkowska, Wioleta Dudzińska

The vascular endothelium is responsible for regulating vascular tone, maintaining fluid homeo-stasis, and preventing platelet aggregation, exhibits regulatory properties in vasorelaxation and vasoconstriction - it produces, among others, nitric oxide and endothelin. The imbalance of vasoactive molecules leads to the loss of their function, known as endothelial dysfunction. Impaired endothelial function is observed in people with metabolic disorders, often preceding the onset of the disease by several years. Endothelial function assessment can be performed using invasive (eg coronary angiography) and non-invasive (flow-dependent dilation, biochemical markers) techniques. Among metabolic abnormalities, increasing scientific interest has focused on metabolic obesity in normal-weight individuals. People with this type of obesity, despite having a normal body mass index, exhibit both metabolic abnormalities typical of obesity (including hypertension and type 2 diabetes) and endothelial dysfunction. This comprehensive review summarizes the current knowledge of the structure and function of the vascular endothelium, methodologies for assessment, and pathophysiological mechanisms of endothelial dysfunction in metabolic disorders, with particular emphasis on diagnostic approaches and clinical implications for cardiovascular risk stratification.

血管内皮负责调节血管张力,维持体液稳态,防止血小板聚集,在血管松弛和血管收缩方面表现出调节特性——它产生一氧化氮和内皮素等。血管活性分子的失衡导致其功能丧失,称为内皮功能障碍。内皮功能受损在代谢紊乱患者中观察到,通常在疾病发作前几年。内皮功能评估可以使用有创技术(如冠状动脉造影)和无创技术(血流依赖性扩张、生化标志物)进行。在代谢异常中,越来越多的科学兴趣集中在正常体重个体的代谢性肥胖上。这种类型的肥胖者,尽管身体质量指数正常,却表现出肥胖的典型代谢异常(包括高血压和2型糖尿病)和内皮功能障碍。本文综述了血管内皮的结构和功能、评估方法和代谢紊乱中内皮功能障碍的病理生理机制的最新知识,特别强调了心血管危险分层的诊断方法和临床意义。
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引用次数: 0
Association Between Revascularization and 30-Day Survival of Ischemic Cardiomyopathy Patients in Dr. Hasan Sadikin General Hospital. Hasan Sadikin总医院缺血性心肌病患者血运重建与30天生存的关系
IF 2.8 Q2 PERIPHERAL VASCULAR DISEASE Pub Date : 2025-09-03 eCollection Date: 2025-01-01 DOI: 10.2147/VHRM.S524863
Pradana Pratomo Raharjo, Adrian Sebastian Suhendro, Achmad Fauzi Yahya, Triwedya Indra Dewi

Introduction: Ischemic cardiomyopathy is the leading cause of heart failure and associated with increased morbidity and mortality. The role of percutaneous coronary intervention (PCI) in term of increasing survival and cardiovascular outcomes in ischemic cardiomyopathy remains unclear.

Purpose: To evaluate whether revascularization is associated with 30-day survival in ischemic cardiomyopathy in Dr. Hasan Sadikin General Hospital.

Patients and methods: This was a single center, observational, retrospective cohort study. Subject data was taken from the CABG and PCI database of Cardiology and Vascular Medicine Department, Faculty of Medicine, Universitas Padjadjaran - Dr. Hasan Sadikin General Hospital from January 2021 to December 2022. Study outcome was 30-day survival after revascularization procedure. Survival analysis was done using Kaplan-Meier analysis then bivariate analysis with log rank test and cox regression analysis. Cox regression analysis was also done for multivariate analysis of confounding factors.

Results: A total of 67 ischemic cardiomyopathy patients were included in the final analysis of this study with balance proportion except for age, complete revascularization, and chronic total occlusion (CTO) variables. CABG group tends to be younger with more proportion in age ≤65 years old compared with PCI group (92.6% vs. 65%. p = 0.01). Complete revascularization had reached dominantly in the CABG group compared with PCI group (85.2% vs. 15%. p < 0.001). In coronary anatomy characteristic, CTO was found more in the CABG group (81.5% vs. 52.5%. p = 0.02). In 30-day follow up, overall survival rate was 91% with 81.5% in the CABG group compared with 97.5% in the PCI group (p = 0.03). Multivariate analysis was done to exclude confounding factors with adjusted hazard ratio of revascularization was 4.02 (CI95% 0.27-60.3. p = 0.31).

Conclusion: There is no association between revascularization and 30-day survival in ischemic cardiomyopathy in Dr. Hasan Sadikin General Hospital. However, wide confidence intervals highlight uncertainty.

简介:缺血性心肌病是心力衰竭的主要原因,与发病率和死亡率增加有关。经皮冠状动脉介入治疗(PCI)在提高缺血性心肌病患者生存率和心血管预后方面的作用尚不清楚。目的:评价哈桑·萨迪金总医院缺血性心肌病患者血运重建是否与30天生存率相关。患者和方法:这是一项单中心、观察性、回顾性队列研究。受试者数据来自Padjadjaran大学医学院- Dr. Hasan Sadikin总医院心血管内科和血管内科的CABG和PCI数据库,时间为2021年1月至2022年12月。研究结果为血运重建术后30天生存率。生存分析采用Kaplan-Meier分析,双变量分析采用对数秩检验和cox回归分析。对混杂因素进行Cox回归分析。结果:本研究共纳入67例缺血性心肌病患者,除年龄、完全血运重建术和慢性全闭塞(CTO)变量外,比例基本平衡。CABG组倾向于年轻化,年龄≤65岁的比例高于PCI组(92.6% vs. 65%)。P = 0.01)。与PCI组相比,CABG组的血运重建率最高(85.2%比15%)。P < 0.001)。冠状动脉解剖特征方面,冠脉搭桥组CTO发生率更高(81.5% vs. 52.5%)。P = 0.02)。随访30 d,总生存率为91%,其中CABG组为81.5%,PCI组为97.5% (p = 0.03)。多因素分析排除混杂因素,血运重建校正风险比为4.02 (CI95% 0.27 ~ 60.3)。P = 0.31)。结论:Hasan Sadikin总医院缺血性心肌病患者血运重建与30天生存率无相关性。然而,较宽的置信区间突出了不确定性。
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引用次数: 0
Deep Learning-Based Detection of Arrhythmia Using ECG Signals - A Comprehensive Review. 基于深度学习的心电信号心律失常检测综述。
IF 2.8 Q2 PERIPHERAL VASCULAR DISEASE Pub Date : 2025-08-30 eCollection Date: 2025-01-01 DOI: 10.2147/VHRM.S508620
Aquib Irteza Reshad, Valentina Nino, Maria Valero

Cardiac arrhythmias are a major health concern around the world, causing morbidity and mortality in a wide range of people. The timely and accurate diagnosis of arrhythmias is critical for optimal clinical management and intervention. Deep learning techniques have developed as powerful tools for detecting arrhythmias in recent years, taking advantage of advances in signal processing and machine learning. This review investigates the use of deep learning approaches to detect arrhythmias via electrocardiogram (ECG) readings. The study includes an in-depth evaluation of 30 papers retrieved from three distinct databases using a structured method. The result indicates that deep learning models can achieve high accuracy like 99.93% as well as high F1 scores such as 99.57%. Furthermore, the study examines current research trends, approaches, and developments in deep learning-based arrhythmia detection, including convolutional neural networks (CNNs), and hybrid architectures that includes RNN and CNN algorithms. Additionally, the paper investigates the strengths and limits of existing techniques, focusing on critical issues such as dataset heterogeneity, model interpretability, and real-time implementation. Future research and development directions in arrhythmia detection using deep learning are also mentioned. This study seeks to give significant insights for physicians, researchers, and policymakers involved in the development and implementation of sophisticated arrhythmia detection systems, with the ultimate goal of improving patient outcomes and cardiac healthcare.

心律失常是世界范围内的一个主要健康问题,在许多人群中引起发病率和死亡率。及时准确地诊断心律失常是优化临床管理和干预的关键。近年来,利用信号处理和机器学习的进步,深度学习技术已经发展成为检测心律失常的强大工具。这篇综述探讨了使用深度学习方法通过心电图(ECG)读数来检测心律失常。该研究包括使用结构化方法对从三个不同数据库检索的30篇论文进行深入评估。结果表明,深度学习模型可以达到99.93%的准确率和99.57%的F1分数。此外,该研究还研究了基于深度学习的心律失常检测的当前研究趋势、方法和发展,包括卷积神经网络(CNN),以及包括RNN和CNN算法的混合架构。此外,本文还研究了现有技术的优势和局限性,重点关注数据集异质性、模型可解释性和实时实现等关键问题。并展望了应用深度学习进行心律失常检测的未来研究和发展方向。本研究旨在为参与开发和实施复杂心律失常检测系统的医生、研究人员和政策制定者提供重要见解,最终目标是改善患者预后和心脏保健。
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引用次数: 0
Predictive Utility of PLR and Platelet-to-LDL Ratio for in-Stent Restenosis Following Carotid Artery Stenting. PLR和血小板/低密度脂蛋白比值对颈动脉支架内再狭窄的预测价值。
IF 2.8 Q2 PERIPHERAL VASCULAR DISEASE Pub Date : 2025-08-27 eCollection Date: 2025-01-01 DOI: 10.2147/VHRM.S534400
Ling Ma, Hu Xu, Huatao Li, Dianwei Liu

Background: Carotid artery stenting (CAS) has been widely used to remodel the vascular structure and restore the blood flow for preventing ischemic stroke. However, in-stent restenosis (ISR) after CAS is extremely associated with an increased risk of ischemic stroke recurrence.

Objective: The aim of this study was to explore potential predict biomarkers for ISR after CAS.

Methods: In this study, data from 221 patients with CAS, which was divided into no-ISR group and ISR group, and 145 healthy controls were retrospectively analyzed. The ratios of neutrophil, lymphocyte, monocyte, platelet, glucose (Glu), and triglyceride (TG) to lymphocyte, HDL, and LDL were analyzed, respectively. In addition, the ratios of SII, SIRI, and AISI were analyzed as the following formulas: SII = platelet × neutrophil-to-lymphocyte ratio, SIRI = monocyte × neutrophil-to-lymphocyte ratio, and AISI = neutrophil × platelet × monocyte-to-lymphocyte ratio. ROC curve analysis was performed to analyze the predict roles of PLR and platelet/LDL for ISR.

Results: The ratios of NLR, PLR, Glu/lymphocyte, TG/lymphocyte, NHR, PHR, Glu/HDL, TG/HDL, neutrophil/LDL, platelet/LDL, Glu/LDL, TG/LDL, and SII increased in patients with CAS, indicating the predict roles of these values in carotid artery stenosis. Most importantly, increased ratios of PLR and platelet/LDL before the first operation of CAS, but not the second operation, were found in ISR patients after CAS as compared with no-ISR group. ROC analysis showed a more effective role of PLR for predicting ISR. While PLR showed high specificity (96.95%), its modest sensitivity (35.29%) suggests the need for complementary biomarkers in clinical practice.

Conclusion: These results indicate that ratios of PLR and platelet/LDL before the first CAS operation can act as the predict biomarkers of ISR.

背景:颈动脉支架植入术(CAS)已被广泛应用于血管结构重塑和血流恢复,以预防缺血性卒中。然而,CAS后支架内再狭窄(ISR)与缺血性卒中复发风险增加密切相关。目的:本研究的目的是探索可能预测CAS后ISR的生物标志物。方法:本研究回顾性分析221例CAS患者的资料,分为无ISR组和ISR组,以及145例健康对照。分别分析中性粒细胞、淋巴细胞、单核细胞、血小板、葡萄糖(Glu)和甘油三酯(TG)与淋巴细胞、HDL和LDL的比值。SII、SIRI、AISI的比值分析公式如下:SII =血小板×中性粒细胞与淋巴细胞比值,SIRI =单核细胞×中性粒细胞与淋巴细胞比值,AISI =中性粒细胞×血小板×单核细胞与淋巴细胞比值。采用ROC曲线分析PLR和血小板/LDL对ISR的预测作用。结果:CAS患者NLR、PLR、Glu/淋巴细胞、TG/淋巴细胞、NHR、PHR、Glu/HDL、TG/HDL、中性粒细胞/LDL、血小板/LDL、Glu/LDL、TG/LDL、SII比值升高,提示这些指标在颈动脉狭窄中的预测作用。最重要的是,与无ISR组相比,在第一次CAS手术前,ISR患者PLR和血小板/LDL比值升高,而在第二次CAS手术后,ISR患者的PLR和血小板/LDL比值升高。ROC分析显示PLR在预测ISR方面的作用更有效。虽然PLR显示出高特异性(96.95%),但其适度的敏感性(35.29%)表明在临床实践中需要补充生物标志物。结论:首次CAS术前PLR和血小板/LDL比值可作为预测ISR的生物标志物。
{"title":"Predictive Utility of PLR and Platelet-to-LDL Ratio for in-Stent Restenosis Following Carotid Artery Stenting.","authors":"Ling Ma, Hu Xu, Huatao Li, Dianwei Liu","doi":"10.2147/VHRM.S534400","DOIUrl":"10.2147/VHRM.S534400","url":null,"abstract":"<p><strong>Background: </strong>Carotid artery stenting (CAS) has been widely used to remodel the vascular structure and restore the blood flow for preventing ischemic stroke. However, in-stent restenosis (ISR) after CAS is extremely associated with an increased risk of ischemic stroke recurrence.</p><p><strong>Objective: </strong>The aim of this study was to explore potential predict biomarkers for ISR after CAS.</p><p><strong>Methods: </strong>In this study, data from 221 patients with CAS, which was divided into no-ISR group and ISR group, and 145 healthy controls were retrospectively analyzed. The ratios of neutrophil, lymphocyte, monocyte, platelet, glucose (Glu), and triglyceride (TG) to lymphocyte, HDL, and LDL were analyzed, respectively. In addition, the ratios of SII, SIRI, and AISI were analyzed as the following formulas: SII = platelet × neutrophil-to-lymphocyte ratio, SIRI = monocyte × neutrophil-to-lymphocyte ratio, and AISI = neutrophil × platelet × monocyte-to-lymphocyte ratio. ROC curve analysis was performed to analyze the predict roles of PLR and platelet/LDL for ISR.</p><p><strong>Results: </strong>The ratios of NLR, PLR, Glu/lymphocyte, TG/lymphocyte, NHR, PHR, Glu/HDL, TG/HDL, neutrophil/LDL, platelet/LDL, Glu/LDL, TG/LDL, and SII increased in patients with CAS, indicating the predict roles of these values in carotid artery stenosis. Most importantly, increased ratios of PLR and platelet/LDL before the first operation of CAS, but not the second operation, were found in ISR patients after CAS as compared with no-ISR group. ROC analysis showed a more effective role of PLR for predicting ISR. While PLR showed high specificity (96.95%), its modest sensitivity (35.29%) suggests the need for complementary biomarkers in clinical practice.</p><p><strong>Conclusion: </strong>These results indicate that ratios of PLR and platelet/LDL before the first CAS operation can act as the predict biomarkers of ISR.</p>","PeriodicalId":23597,"journal":{"name":"Vascular Health and Risk Management","volume":"21 ","pages":"671-684"},"PeriodicalIF":2.8,"publicationDate":"2025-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12400112/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144993499","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Sexual and Cardiovascular Health: Factors Influencing on the Quality of Sexual Life of Coronary Heart Disease Patients - A Narrative Review [Response to Letter]. 性与心血管健康:影响冠心病患者性生活质量的因素综述[对来信的回应]。
IF 2.8 Q2 PERIPHERAL VASCULAR DISEASE Pub Date : 2025-08-19 eCollection Date: 2025-01-01 DOI: 10.2147/VHRM.S554668
Magdalena Piegza, Joanna Smolarczyk, Jacek Piegza
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引用次数: 0
Determining the Predictors of Temporary Epicardial Pacing Wires Use After Isolated Coronary Artery Bypass Grafting Surgery. 确定孤立冠状动脉搭桥术后临时心外膜起搏导线使用的预测因素。
IF 2.8 Q2 PERIPHERAL VASCULAR DISEASE Pub Date : 2025-08-15 eCollection Date: 2025-01-01 DOI: 10.2147/VHRM.S513921
Nizar R Alwaqfi, Majd M AlBarakat, Rana B Altawalbeh, Hala R Qaryouti, Abdullah AlMomani, Ahmed S Obeidat, Ayah J Alkrarha, Khalid S Ibrahim, Qusai Aljarrah, Nisreen Yaghmour

Background: Coronary artery bypass grafting (CABG) is frequently associated with postoperative arrhythmias, often necessitating temporary cardiac pacing (TCP). The routine placement of temporary epicardial pacing wires (PWs) remains controversial due to potential complications. This study aimed to identify predictors for TCP after isolated CABG to guide selective PW use and improve perioperative outcomes.

Methods: A retrospective analysis was conducted on 1,395 patients who underwent isolated CABG with cardiopulmonary bypass (CPB) at King Abdullah University Hospital, Jordan, between 2004 and 2022. Patients undergoing redo surgeries or presenting with high-grade atrioventricular block, ischemic ventricular septal defect, or missing data were excluded. Patients were grouped based on PW placement, and predictors for TCP were assessed using univariate and multivariate logistic regression.

Results: Among the 1,395 patients, 887 received PWs, and 127 required TCP. Significant predictors for TCP included preoperative bundle branch block (BBB), intraoperative blood transfusion, prolonged vasoactive support, and mechanical ventilation exceeding 12 hours postoperatively. Preoperative beta-blocker use was associated with reduced risk of TCP. Demographics, comorbidities, and prolonged CPB or aortic cross-clamp times were not significant.

Conclusion: Preoperative BBB and postoperative complications were associated with increased TCP risk, while beta-blocker use was protective. These findings support a risk-based strategy for PW placement after CABG to reduce complications and improve resource allocation. Prospective studies are needed to validate these predictors and refine perioperative protocols.

背景:冠状动脉旁路移植术(CABG)经常与术后心律失常相关,通常需要临时心脏起搏(TCP)。常规放置临时心外膜起搏导线(PWs)由于潜在的并发症仍然存在争议。本研究旨在确定孤立CABG后TCP的预测因素,以指导选择性PW的使用并改善围手术期预后。方法:回顾性分析2004年至2022年在约旦阿卜杜拉国王大学医院接受孤立性冠脉搭桥合并体外循环(CPB)治疗的1395例患者。接受重做手术或出现高级别房室传导阻滞、缺血性室间隔缺损或数据缺失的患者被排除在外。根据PW位置对患者进行分组,并使用单变量和多变量逻辑回归评估TCP的预测因子。结果:1395例患者中,887例患者接受了PWs治疗,127例患者需要TCP治疗。TCP的重要预测因素包括术前束支阻滞(BBB)、术中输血、延长血管活性支持和术后超过12小时的机械通气。术前β受体阻滞剂的使用与TCP风险降低相关。人口统计学、合并症、CPB延长或主动脉交叉夹夹时间无显著性差异。结论:术前血脑屏障和术后并发症与TCP风险增加相关,而β受体阻滞剂的使用具有保护作用。这些发现支持基于风险的冠脉搭桥后PW放置策略,以减少并发症并改善资源分配。需要前瞻性研究来验证这些预测因素并完善围手术期方案。
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引用次数: 0
Nurses Bridging Silence on Sexual Health in Cardiac Care: A Commentary on Piegza et al (2025) "Sexual and Cardiovascular Health: Factors Influencing on the Quality of Sexual Life of Coronary Heart Disease Patients - A Narrative Review" [Letter]. 护士在心脏护理中打破性健康沉默——评Piegza等(2025)《性与心血管健康:影响冠心病患者性生活质量的因素述评》[信]。
IF 2.8 Q2 PERIPHERAL VASCULAR DISEASE Pub Date : 2025-08-15 eCollection Date: 2025-01-01 DOI: 10.2147/VHRM.S551001
Sílvia Teixeira, Bruno Delgado, Paulo Alves
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引用次数: 0
Association of the Coagulation Factor V c.3865T>G Mutation with Genetic and Regional Susceptibility to Cerebral Venous and Sinus Thrombosis in Xiangyang. 凝血因子vc . 3865t >g突变与襄阳地区脑静脉、窦血栓形成遗传易感性的关系
IF 2.8 Q2 PERIPHERAL VASCULAR DISEASE Pub Date : 2025-08-13 eCollection Date: 2025-01-01 DOI: 10.2147/VHRM.S518609
Jun Zhang, Qian Liu, Chenglin Sun, Jun Yang

Objective: This study investigates the potential genetic and regional associations of a newly identified c.3865T>G mutation in the F5 gene (coagulation factor V) with cerebral venous and sinus thrombosis (CVST).

Methods: Two groups of CVST cases associated with hereditary thrombophilia were analyzed. Genetic sequencing was performed to identify the patients' genetic profiles. A family pedigree analysis and a review of relevant literature were conducted to assess the pathogenic significance of the mutation.

Results: Genetic analysis revealed the presence of a c.3865T>G mutation in the F5 gene in both cases. This mutation is distinct from the well-established Leiden mutation and has not been previously reported. Although the two patients' families had no direct blood relationship, both patients resided in the same geographic region, suggesting the possibility of shared environmental or genetic factors. Advances in diagnostic technologies have also facilitated the identification of hereditary thrombophilia as an increasingly recognized cause of CVST.

Conclusion: The c.3865T>G mutation in the F5 gene may represent a novel genetic contributor to CVST. Its regional clustering points to a potential genetic and geographic association. These findings provide new insights into the etiology and diagnosis of CVST and underscore the importance of investigating regional genetic predispositions further.

目的:本研究探讨新发现的F5基因(凝血因子V) c.3865T>G突变与脑静脉窦血栓形成(CVST)的潜在遗传和区域关联。方法:对两组合并遗传性血栓病的CVST病例进行分析。进行基因测序以确定患者的遗传谱。我们进行了家族谱系分析和相关文献的回顾,以评估该突变的致病意义。结果:遗传分析显示两例患者的F5基因均存在c.3865T>G突变。这种突变不同于公认的Leiden突变,以前没有报道过。虽然两名患者的家庭没有直接的血缘关系,但两名患者都居住在同一地理区域,这表明可能存在共同的环境或遗传因素。诊断技术的进步也促进了遗传性血栓性疾病作为CVST日益被认可的病因的识别。结论:F5基因c.3865T>G突变可能是CVST的一个新的遗传因素。它的区域聚集表明了潜在的遗传和地理联系。这些发现为CVST的病因和诊断提供了新的见解,并强调了进一步研究区域遗传易感性的重要性。
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引用次数: 0
Intensified Multifaceted Education Improves the Implementation of Standard Atrial Fibrillation Care in Elderly Patients with Atrial Fibrillation in Rural China. 加强多方面教育促进中国农村老年房颤患者标准房颤护理的实施
IF 2.8 Q2 PERIPHERAL VASCULAR DISEASE Pub Date : 2025-08-13 eCollection Date: 2025-01-01 DOI: 10.2147/VHRM.S535313
Shimeng Zhang, Ming Chu, Dechuan Lu, Youmei Shen, Xingxing Sun, Yaodongqin Xia, Shu Yang, Jinlong Gong, Li Hong, Mingfang Li, Gregory Y H Lip, Minglong Chen

Background: Exploring an integrated care management model to effectively deliver the standardized management to atrial fibrillation (AF) elderlies in rural China.

Purpose: The objective of this study was to assess whether intensified multifaceted education (IME) targeting AF elderlies, their family members, and the village doctors (VD) can increase compliance for rural AF elderlies with integrated care based on the AF Better Care (ABC) pathway. Additionally, the capacity of VD to deliver integrated AF care was investigated.

Patients and methods: This is a self-controlled cohort study before and after IME, including AF patients aged ≥65 years identified in phase-I of The Jiangsu Province Rural Community AF Project. The IME model was defined as 12 months of continuous knowledge education on integrated care management of AF based on the ABC pathway, delivered to AF patients, their family members and the village doctors. AF knowledge evaluation from VD and compliance with the ABC pathway before and after the IME model were evaluated.

Results: A total of 810 AF patients (mean age 76.1 ± 5.9 years; 51.4% women) were enrolled. After 12 months, the AF knowledge score of VD was significantly improved [(65.0 ± 13.0) scores vs (53.1 ± 9.8) scores, P < 0.001]. Although the compliance of AF patients with the ABC pathway was improved statistically (4.3% vs 1.7%, P = 0.003), the absolute increase was small.

Conclusion: Although VD have the potential to serve as AF integrated care management providers, the impact of the IME model used to improve the standard AF care in rural elderly AF population was small.

背景:探索一种综合护理管理模式,有效地为农村老年人房颤(AF)提供规范化管理。目的:本研究的目的是评估针对房颤老年人、其家庭成员和乡村医生(VD)加强的多面教育(IME)是否可以提高农村房颤老年人对基于房颤更好护理(ABC)途径的综合护理的依从性。此外,VD提供房颤综合护理的能力也被调查。患者和方法:本研究是一项IME前后的自我对照队列研究,纳入江苏省农村社区房颤项目一期确定的年龄≥65岁的房颤患者。IME模式定义为基于ABC途径对房颤患者、家属和村医进行为期12个月的房颤综合护理管理的持续知识教育。通过VD对AF知识的评价和IME模型前后对ABC通路的依从性进行评价。结果:共纳入810例房颤患者(平均年龄76.1±5.9岁,女性51.4%)。12个月后,VD的心房颤动知识得分明显提高[(65.0±13.0)分vs(53.1±9.8)分,P < 0.001]。虽然AF患者ABC途径的依从性在统计学上有所改善(4.3% vs 1.7%, P = 0.003),但绝对增加幅度较小。结论:虽然VD具有作为房颤综合护理管理提供者的潜力,但IME模式用于改善农村老年房颤人群标准房颤护理的影响很小。
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引用次数: 0
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Vascular Health and Risk Management
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