CHD

CHD
  • 文章类型: Journal Article
    背景:糖尿病是一种常见的慢性代谢性疾病。该疾病的进展促进血管炎症和动脉粥样硬化的形成,导致心血管疾病。基于CCTA的冠状动脉血管周围脂肪组织衰减指数是一种新的非侵入性成像生物标志物,可以反映CCTA图像中血管周围脂肪组织衰减的空间变化和冠状动脉周围的炎症。在这项研究中,提出了一种影像组学方法,以高通量方式从CCTA中提取大量图像特征,并结合临床诊断数据,探索基于CCTA的血管周围脂肪成像数据对糖尿病患者冠心病的预测能力。
    方法:采用R语言进行统计分析,筛选出差异显著的变量。预分离模型用于CCTA血管分割,筛选出冠状动脉周围脂肪区域。PyRadiomics用于计算冠状动脉周围脂肪组织的影像组学特征,和SVM,使用DT和RF对临床数据和影像组学数据进行建模和分析。使用PPV、FPR,AAC,ROC。
    结果:结果表明,年龄存在显着差异,血压,糖尿病患者和无冠心病患者之间的一些生化指标。在1037个计算的放射学参数中,18.3%的人在成像组学特征上表现出显著差异。三种建模方法用于分析不同的临床信息组合,内部血管影像组学信息和冠状动脉血管脂肪影像组学信息。结果表明,在不同的机器学习模型下,完整数据的数据集具有最高的ACC值。支持向量机方法表现出最好的特异性,灵敏度,和这个数据集的准确性。
    结论:在这项研究中,将CCTA的临床数据和冠状动脉影像组学数据进行融合,以预测糖尿病患者冠心病的发生。这为糖尿病患者早期发现冠心病提供了信息,并可以及时进行干预和治疗。
    BACKGROUND: Diabetes is a common chronic metabolic disease. The progression of the disease promotes vascular inflammation and the formation of atherosclerosis, leading to cardiovascular disease. The coronary artery perivascular adipose tissue attenuation index based on CCTA is a new noninvasive imaging biomarker that reflects the spatial changes in perivascular adipose tissue attenuation in CCTA images and the inflammation around the coronary arteries. In this study, a radiomics approach is proposed to extract a large number of image features from CCTA in a high-throughput manner and combined with clinical diagnostic data to explore the predictive ability of vascular perivascular adipose imaging data based on CCTA for coronary heart disease in diabetic patients.
    METHODS: R language was used for statistical analysis to screen the variables with significant differences. A presegmentation model was used for CCTA vessel segmentation, and the pericoronary adipose region was screened out. PyRadiomics was used to calculate the radiomics features of pericoronary adipose tissue, and SVM, DT and RF were used to model and analyze the clinical data and radiomics data. Model performance was evaluated using indicators such as PPV, FPR, AAC, and ROC.
    RESULTS: The results indicate that there are significant differences in age, blood pressure, and some biochemical indicators between diabetes patients with and without coronary heart disease. Among 1037 calculated radiomic parameters, 18.3% showed significant differences in imaging omics features. Three modeling methods were used to analyze different combinations of clinical information, internal vascular radiomics information and pericoronary vascular fat radiomics information. The results showed that the dataset of full data had the highest ACC values under different machine learning models. The support vector machine method showed the best specificity, sensitivity, and accuracy for this dataset.
    CONCLUSIONS: In this study, the clinical data and pericoronary radiomics data of CCTA were fused to predict the occurrence of coronary heart disease in diabetic patients. This provides information for the early detection of coronary heart disease in patients with diabetes and allows for timely intervention and treatment.
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  • 文章类型: Journal Article
    目的:回顾了过去13年在我们中心接受修复的完全性肺静脉异位连接患者的临床资料。在这项研究中,我们系统地回顾了我们在完全性肺静脉异位连接患者的最佳手术策略方面的经验,旨在为临床决策提供依据。
    方法:2009年1月1日至2021年12月31日在我院接受手术治疗的122例完全性肺静脉异位引流患者。其中,研究中排除了18例单心室修复患者。多因素分析用于确定早期和晚期死亡的危险因素以及肺静脉阻塞的危险因素。
    结果:男性64例,女性40例。手术年龄中位数为107天(范围,25天-788天),手术时的中位体重为4.8kg(范围,3kg-22kg),中位随访时间为59个月(范围,0-150个月)。7例患者术后早期死亡,6例患者出院后晚期死亡。多因素分析显示体外循环时间延长是术后早期死亡的独立危险因素。多因素分析未发现晚期死亡的危险因素。急诊手术,术前中度和重度肺动脉高压,体外循环时间延长是术后肺静脉阻塞的独立危险因素。
    结论:完全性肺静脉异位连接患者的早期和长期晚期修复结果令人鼓舞。术后肺静脉阻塞仍然是全世界专家的主要问题。术前急诊手术患儿应考虑肺静脉阻塞,中度至重度肺动脉高压和延长的体外循环时间,定期跟进是必要的。
    OBJECTIVE: The clinical data of patients with total anomalous pulmonary venous connection who underwent repair in our centre in the past 13 years were reviewed. In this study, we systemically reviewed our experience in the optimal surgical strategy for patients with total anomalous pulmonary venous connection, aiming to provide evidence for clinical decision-making.
    METHODS: From January 1, 2009, to December 31, 2021, 122 patients undergoing surgical treatment for total anomalous pulmonary venous connection in our hospital were enrolled. Among them, 18 patients with single ventricle repair were excluded from the study. Multivariate analysis was used to determine the risk factors for early and late death and the risk factors for pulmonary vein obstruction.
    RESULTS: There were 64 males and 40 females. The median age at surgery was 107 days (range, 25 days-788 days), the median weight at surgery was 4.8 kg (range, 3 kg-22 kg), and the median follow-up was 59 months (range, 0-150 months). Seven patients died early after surgery and six died late after discharge. Multivariable analysis indicated that prolonged cardiopulmonary bypass time was the only independent risk factor for early postoperative mortality. Multivariate analysis did not identify risk factors for late death. Emergency surgery, preoperative moderate and severe pulmonary hypertension, and prolonged cardiopulmonary bypass time were independent risk factors for postoperative pulmonary vein obstruction.
    CONCLUSIONS: Early and long-term late outcomes of repair in patients with total anomalous pulmonary venous connection have been encouraging. Postoperative pulmonary vein obstruction remains a major problem for specialists worldwide. Pulmonary vein obstruction should be considered in children with preoperative emergency surgery, moderate to severe pulmonary hypertension and prolonged cardiopulmonary bypass time, and regular follow-up is necessary.
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  • 文章类型: Journal Article
    坏死在心血管疾病中的意义已经被认识到。然而,在冠心病(CHD)中尚未广泛研究坏死的分子机制。
    在从GEO数据库下载的GSE20681数据集中获得CHD和对照样品之间的差异表达基因(DEGs)。通过生物信息学分析技术捕获并确定与坏死相关的关键DEGs,包括加权基因共表达网络分析(WGCNA)和两种机器学习算法,而单基因基因集富集分析(GSEA)揭示了它们的分子机制。通过接受者操作特征(ROC)分析选择诊断性生物标志物。此外,对免疫因子浸润程度进行了分析。使用定量实时PCR(qRT-PCR)在体外研究了mRNA水平上关键基因表达的鉴定。
    这里总共识别了94个DE-NRG,其中,FAM166B,NEFL,POLDIP3、PRSS37和ZNF594被鉴定为坏死性凋亡相关生物标志物,基于它们的线性回归模型对不同样本类型具有可接受的能力。在监管分析之后,确定的生物标志物在与血液循环相关的功能上明显丰富,钙离子稳态,MAPK/cAMP/Ras信号通路。单样本GSEA显示APC共刺激和CCR更丰富,冠心病患者的aDC和B细胞相对缺乏。生物信息学和qRT-PCR分析的一致发现证实了NEFL的上调和FAM166B的下调,冠心病中的POLDIP3和PRSS37。
    我们目前的研究确定了5个与坏死相关的基因,这些基因可能是冠心病的诊断标志物,并带来了对冠心病坏死的潜在分子机制的新理解。
    UNASSIGNED: The implication of necroptosis in cardiovascular disease was already recognized. However, the molecular mechanism of necroptosis has not been extensively studied in coronary heart disease (CHD).
    UNASSIGNED: The differentially expressed genes (DEGs) between CHD and control samples were acquired in the GSE20681 dataset downloaded from the GEO database. Key necroptosis-related DEGs were captured and ascertained by bioinformatics analysis techniques, including weighted gene co-expression network analysis (WGCNA) and two machine learning algorithms, while single-gene gene set enrichment analysis (GSEA) revealed their molecular mechanisms. The diagnostic biomarkers were selected via receiver operating characteristic (ROC) analysis. Moreover, an analysis of immune elements infiltration degree was carried out. Authentication of pivotal gene expression at the mRNA level was investigated in vitro utilizing quantitative real-time PCR (qRT-PCR).
    UNASSIGNED: A total of 94 DE-NRGs were recognized here, among which, FAM166B, NEFL, POLDIP3, PRSS37, and ZNF594 were authenticated as necroptosis-related biomarkers, and the linear regression model based on them presented an acceptable ability to different sample types. Following regulatory analysis, the ascertained biomarkers were markedly abundant in functions pertinent to blood circulation, calcium ion homeostasis, and the MAPK/cAMP/Ras signaling pathway. Single-sample GSEA exhibited that APC co-stimulation and CCR were more abundant, and aDCs and B cells were relatively scarce in CHD patients. Consistent findings from bioinformatics and qRT-PCR analyses confirmed the upregulation of NEFL and the downregulation of FAM166B, POLDIP3, and PRSS37 in CHD.
    UNASSIGNED: Our current investigation identified 5 necroptosis-related genes that could be diagnostic markers for CHD and brought a novel comprehension of the latent molecular mechanisms of necroptosis in CHD.
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  • 文章类型: Journal Article
    1.雄性和雌性Chukarpart很难根据其形态或早期生长过程中的Chromobox-Helicase-DNA结合(CHD)进行区分。目前的研究开发了一种新颖的,简单,基于新定义的性别鉴定基因泛素相关蛋白2(UBAP2)的Chukarpart低成本快速性别鉴定方案。UBAP2-W和UBAP2-Z同源基因之间的多态性长度允许在该物种中容易进行性别歧视。分子性别分析基于两个基因的同时扩增,在异系雌性中产生两个不同的扩增子(947bp和535bp),在同系雄性中只有一个条带(535bp),用琼脂糖凝胶电泳容易检测4。该技术简单方便,可用于Chukarpart的遗传性别确定。
    1. Male and female Chukar partridges are difficult to differentiate based on their morphology or by the Chromobox-Helicase-DNA binding (CHD) during early growth.2. The current study developed a novel, simple, low-cost and rapid sexing protocol for Chukar partridges based on the newly defined sexing gene ubiquitin-associated protein 2 (UBAP2).3. The length of polymorphism between UBAP2-W and UBAP2-Z homologous genes allows for easy sex discrimination in this species. Molecular sexing analysis was based on the simultaneous amplification of both genes, resulting in two distinct amplicons (947 bp and 535 bp) in heterogametic females and only a single band (535 bp) in homogametic males, which is easy to detect with agarose gel electrophoresis.4. This technique is simple and convenient for genetic sex determination in Chukar partridges.
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  • 文章类型: Journal Article
    采用基于人工智能(AI)的新型光学相干断层扫描血管造影(OCTA)去噪图像,探讨冠心病(CHD)患者视网膜血管密度(VD)参数与血清B型利钠肽(BNP)的相关性。
    使用Canon-HS100OCT设备在176例冠心病患者中获得视神经和黄斑区的OCTA图像。记录基线信息和血液检查结果。
    冠心病患者去噪后,OCTA上黄斑和视神经的视网膜VD参数显着降低。浅表毛细血管丛(SCP)的视网膜VD,深毛细血管丛(DCP)和放射状周围毛细血管(RPC)与冠心病患者血清BNP水平密切相关。在视网膜厚度和视网膜VD(SCP,CHD患者BNP升高组和BNP正常组之间的DCP和RPC)。
    深度学习去噪可以去除背景噪声并平滑粗糙的血管表面。SCP,DCP和RPC可能是冠心病患者心功能的潜在临床标志物。去噪显示出改善OCTA图像作为CHD进展的生物标志物的敏感性的巨大潜力。
    UNASSIGNED: To investigate the correlation between retinal vessel density (VD) parameters with serum B-type natriuretic peptide (BNP) in patients with coronary heart disease (CHD) using novel optical coherence tomography angiography (OCTA) denoising images based on artificial intelligence (AI).
    UNASSIGNED: OCTA images of the optic nerve and macular area were obtained using a Canon-HS100 OCT device in 176 patients with CHD. Baseline information and blood test results were recorded.
    UNASSIGNED: Retinal VD parameters of the macular and optic nerves on OCTA were significantly decreased in patients with CHD after denoising. Retinal VD of the superficial capillary plexus (SCP), deep capillary plexus (DCP) and radial peripapillary capillary (RPC) was strongly correlated with serum BNP levels in patients with CHD. Significant differences were noted in retinal thickness and retinal VD (SCP, DCP and RPC) between the increased BNP and normal BNP groups in patients with CHD.
    UNASSIGNED: Deep learning denoising can remove background noise and smooth rough vessel surfaces. SCP,DCP and RPC may be potential clinical markers of cardiac function in patients with CHD. Denoising shows great potential for improving the sensitivity of OCTA images as a biomarker for CHD progression.
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  • 文章类型: Journal Article
    目的:回顾了过去12年在我们中心接受手术治疗的主动脉瓣下狭窄患者的临床资料。分析短期和长期临床结果,比较不同主动脉瓣下狭窄手术方法的长期结局,以确定主动脉瓣下狭窄的最佳手术治疗策略.
    方法:选择2010年12月至2022年12月在我院接受主动脉瓣下狭窄手术治疗的90例患者。男性55例,女性35例,中位年龄72(46,132)个月,平均手术体重(21.35±15.84)kg。根据操作方法,将90例患者分为A组(50例单纯主动脉下膜切除术)和B组(40例主动脉下膜和肌肉切除术或改良Konno手术)。
    结果:有3例早期死亡(3.33%)。B组1例晚期死亡,两组患者远期生存率差异无统计学意义(p=0.904)。B组术前左心室流出道压力梯度为(91.56±36.98)mmHg,高于A组(51.13±36.04)mmHg(p<0.001)。B组术后即刻左心室流出道压力梯度[(5.44±8.43)mmHg]与A组[(7.82±13.44)mmHg]差异无统计学意义(p=0.343)。在长期随访中,B组左心室流出道压力梯度为(5.86±9.53)mmHg,与A组(8.83±14.52)mmHg相比无统计学意义(p=0.294)。11例中度或重度主动脉瓣返流患者(A组/B组:3/8)同时接受了主动脉瓣膜成形术。B组,中度或中度以上的主动脉瓣反流在手术后立即显着改善(p=0.013),并且在长期随访中并未显着加重(p=0.083),A组术后及长期随访无明显改善。
    结论:根据左心室流出道的不同解剖病变,主动脉瓣下狭窄患者的个体化手术治疗策略可以取得良好的长期疗效.简单的主动脉下膜切除术和扩大的左心室流出道切除术后,由于晚期左心室流出道阻塞而导致的长期生存率和再次手术的自由度相当。对于在扩大左心室流出道切除术前出现中度或重度主动脉瓣反流的患者,同期主动脉瓣成形术有利于改善术后主动脉瓣功能。
    OBJECTIVE: The clinical data of patients with subaortic stenosis who underwent surgical treatment in our centre in the past 12 years were reviewed. The short-term and long-term clinical outcomes were analyzed, and the long-term outcomes of different surgical methods for subaortic stenosis were compared to determine the optimal surgical treatment strategy for subaortic stenosis.
    METHODS: From December 2010 to December 2022, 90 patients undergoing surgical treatment for subaortic stenosis in our hospital were enrolled. There were 55 males and 35 females with a median age of 72 (46,132) months and an average surgical weight of (21.35 ± 15.84) kg. According to the operation method, 90 patients were divided into group A (50 patients with simple subaortic membrane resection) and group B (40 patients with subaortic membrane and muscle resection or modified Konno procedure).
    RESULTS: There were three early deaths (3.33%). One late death occurred in group B. There was no significant difference in long-term survival rate between the two groups (p = 0.904). The preoperative left ventricular outflow tract pressure gradient in group B was (91.56 ± 36.98) mm Hg, which was higher than that in group A(51.13 ± 36.04)mm Hg(p < 0.001). There was no significant difference in immediate postoperative left ventricular outflow tract pressure gradient between group B [(5.44 ± 8.43) mm Hg] and group A [(7.82 ± 13.44) mm Hg] (p = 0.343). In the long-term follow-up, left ventricular outflow tract pressure gradient in group B was (5.86 ± 9.53) mm Hg, which was not statistically significant compared with group A (8.83 ± 14.52) mm Hg (p = 0.294). Eleven patients with moderate or greater aortic regurgitation (group A/group B: 3/8) underwent simultaneous aortic valvuloplasty. In group B, moderate or greater aortic regurgitation was significantly improved immediately after operation (p = 0.013) and was not significantly aggravated in long-term follow-up (p = 0.083), and there was no significant improvement in group A after operation and long-term follow-up.
    CONCLUSIONS: According to the different anatomical lesions of left ventricular outflow tract, the individualised surgical treatment strategy for patients with subaortic stenosis can achieve good long-term outcomes. The long-term survival rate and freedom from reoperation due to late left ventricular outflow tract obstruction after simple subaortic membrane resection and extended left ventricular outflow tract resection are comparable. For patients with moderate or greater aortic regurgitation before extended left ventricular outflow tract resection, simultaneous aortic valvuloplasty is beneficial to improve postoperative aortic valve function.
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  • 文章类型: Journal Article
    背景:孤立的部分异常肺静脉连接(PAPVC)难以诊断,和手术适应症仍然存在争议。我们回顾了10年分离的PAPVC病例。
    方法:回顾性分析2010-2019年安贞县先心病科收治的孤立性PAPVC患者资料。
    结果:30名患者,年龄在4个月到32岁之间,包括在这项研究中。发现右心室(RV)之间存在显着相关性,舒张末期维度Z评分(RVED-z)和年龄(r=0.398,P=0.03),在估计的肺压和年龄之间(r=0.423,P=0.02)。然而,RVED-z与异常肺静脉数之间无显著相关性(r=0.347,P=0.061),在估计的肺压和RVED-z之间(r=0.218,P=0.248),在估计的肺压和异常静脉数量之间(r=0.225,P=0.232)。经胸超声心动图(TTE)证实了90%的孤立PAPVC病例。29例RV扩大患者进行了手术修复,持久的低体重,肺动脉高压,或呼吸道症状。在手术患者中,9人在手术前肺压升高,术后下降;没有观察到死亡率或再干预。超声心动图随访的平均持续时间为1.9y。
    结论:建议将TTE用于常规评估,当TTE无法确定诊断时,可以通过计算机断层扫描获得进一步的澄清。如果TTE不能提供明确的结果,则进一步建议成人患者使用经食道超声心动图和计算机断层扫描。当观察到无法解释的RV增大时,PAPVC应被视为根本原因。对于RV增大的患者建议手术,肺动脉高压,或呼吸道症状。
    BACKGROUND: Isolated partial anomalous pulmonary venous connection (PAPVC) is difficult to diagnose, and surgical indications remain controversial. We reviewed 10 y of isolated PAPVC cases.
    METHODS: The data of patients with isolated PAPVC admitted to the Anzhen Congenital Heart Disease Department from 2010 to 2019 were reviewed retrospectively.
    RESULTS: Thirty patients, aged between 4 mo and 32 y, were included in this study. Significant correlations were found between the right ventricle (RV), end-diastolic dimension Z-score (RVED-z) and age (r = 0.398, P = 0.03), and between estimated pulmonary pressure and age (r = 0.423, P = 0.02). However, no significant correlations were found between the RVED-z and the number of anomalous pulmonary veins (r = 0.347, P = 0.061), between estimated pulmonary pressure and the RVED-z (r = 0.218, P = 0.248), and between estimated pulmonary pressure and the number of anomalous veins (r = 0.225, P = 0.232). Transthoracic echocardiography (TTE) confirmed 90% of isolated PAPVC cases. Surgical repair was performed in 29 patients with RV enlargement, persistent low weight, pulmonary hypertension, or respiratory symptoms. Among the surgical patients, nine had elevated pulmonary pressure before surgery, which decreased postoperatively; no mortality or reintervention was observed. The mean duration of echocardiographic follow-up was 1.9 y.
    CONCLUSIONS: TTE is recommended for routine assessments, and further clarification can be obtained with computed tomography when TTE proves inconclusive for diagnosis. Transesophageal echocardiography and computed tomography are further recommended for adult patients if TTE fails to provide clear results. PAPVC should be considered as an underlying cause when unexplained RV enlargement is observed. Surgery is recommended for patients with RV enlargement, pulmonary hypertension, or respiratory symptoms.
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  • 文章类型: Journal Article
    研究表明,遗传因素在CHD的发生发展中起重要作用。GATA4和CITED2基因的突变导致心脏无法正常发育,从而导致间隔缺损。本研究调查了新疆心脏隔膜缺陷患者的潜在分子病因。我们通过测序研究了172例心脏分隔缺陷患者的GATA4和CITED2基因编码区的变体。包括健康对照(n=200)。三个杂合变异(p。V380M,p.P394T,在三名患者中鉴定出GATA4基因的p.P407Q)。在房间隔缺损患者中发现p.V380M。在房间隔缺损患者中发现p.P394T。在1例室间隔缺损患者中检测到GATA4基因的p.V380M和p.P407Q。一种新的纯合变异(p。在一名室间隔缺损患者中发现了CITED2基因的Sl92G)。其他患者和健康个体均正常。在新疆心脏间隔缺损个体中观察到的遗传变异的有限患病率提供了支持CHD是多基因遗传性疾病这一假设的证据。GATA4和CITED2基因突变可能是特发性冠心病患者发生的潜在基础。
    Studies have shown that genetic factors play an important role in CHD\'s development. The mutations in GATA4 and CITED2 genes result in the failure of the heart to develop normally, thereby leading to septal defects. The present study investigated the underlying molecular aetiology of patients with cardiac septation defects from Xinjiang. We investigated variants of the GATA4 and CITED2 gene coding regions in 172 patients with cardiac septation defects by sequencing. Healthy controls (n = 200) were included. Three heterozygous variations (p.V380M, p.P394T, and p.P407Q) of the GATA4 gene were identified in three patients. p.V380M was discovered in a patient with atrial septal defect. p.P394T was noted in a patient with atrial septal defect. p.V380M and p.P407Q of the GATA4 gene were detected in one patient with ventricular septal defect. A novel homozygous variation (p. Sl92G) of the CITED2 gene was found in one patient with ventricular septal defect. Other patients and healthy individuals were normal. The limited prevalence of genetic variations observed in individuals with cardiac septal defects from Xinjiang provides evidence in favour of the hypothesis that CHD is a polygenic hereditary disorder. It is plausible that mutations in the GATA4 and CITED2 genes could potentially underlie the occurrence of idiopathic CHD in affected patients.
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  • 文章类型: Journal Article
    目的基于金磁性纳米粒子(GMNPs)色谱和扩增难突变系统-PCR(ARMS-PCR)探讨醛脱氢酶-2(ALDH2)Glu504Lys位点突变与冠心病(CHD)的相关性。选取温州医科大学附属温岭市第一人民医院心血管内科2020年12月至2021年12月收治的冠心病患者120例为病例组,选取同期收治的非冠心病患者80例为对照组。静脉血和总胆固醇(TC)指标,甘油三酯(TG),低密度脂蛋白胆固醇(LDL-C),高密度脂蛋白胆固醇(HDL-C),收集空腹血糖(FBS)。采用基于ARMS-PCR和免疫层析法的ARMS-PCRGMNPs色谱检测ALDH2基因多态性。采用logistic回归分析ALDH2基因多态性与冠心病危险因素的相关性。与Ctrl组相比,GG的基因型,GA,病例组与AA比较差异有统计学意义(P<0.05),A等位基因频率明显增加(P<0.05)。在主导模式下,病例组GA+AA基因型频率明显高于Ctrl组(P<0.05)。在隐性模式下,两组基因型频率无明显差异。与Ctrl组相比,TC,LDL-C,病例组FBS明显升高(P<0.05),HDL-C显著降低(P<0.05)。LDL-C异常分布频率,HDL-C,Case组FBS明显高于Ctrl组(P<0.05)。LDL-C和FBS对CHD患者等位基因的基因型和频率分布无明显影响。然而,HDL-C异常患者的GA,AA和A等位基因基因型的频率分布明显低于HDL-C正常患者(P<0.05)。Logistic回归分析显示HDC-C等位基因异常是冠心病的独立危险因素(P=0.001,OR=1.934)。ALDH2的Glu504Lys位点的基因多态性与冠心病的发病密切相关,等位基因可能是CHD的易感基因,HDC-C异常且携带A等位基因的患者的CHD发生率相对较高。
    It aimed to explore the correlation of Glu504Lys locus mutation of aldehyde dehydrogenase-2 (ALDH2) with coronary heart disease (CHD) based on gold magnetic nanoparticles (GMNPs) chromatography and amplification refractory mutation system-PCR (ARMS-PCR). 120 CHD patients admitted to the cardiovascular Department of Wenling First People\'s Hospital affiliated to Wenzhou Medical University from December 2020 to December 2021 were selected as Case group and 80 non-CHD patients admitted during the same period were selected as Ctrl group. The venous blood and indexes of Total Cholesterol (TC), Triglyceride (TG), Low Density Lipoprotein Cholesterol (LDL-C), High Density Lipoprotein Cholesterol (HDL-C), and Fasting Blood Glucose (FBS) were collected. The ARMS-PCR GMNPs chromatography based on ARMS-PCR and immunochromatography assay was adopted to detect gene polymorphism of ALDH2. Correlation between ALDH2 gene polymorphism and risk factors of CHD was analyzed via logistic regression. In contrast to Ctrl group, the genotypes of GG, GA, and AA in Case group were evidently different (P < 0.05), and the frequency of A allelic gene was obviously increased (P < 0.05). Under the dominant model, frequency of GA + AA genotype in Case group was remarkably higher in contrast to Ctrl group (P < 0.05). Under the recessive model, there was no obvious difference in genotype frequency between two groups. In contrast to Ctrl group, TC, LDL-C, and FBS in Case group were notably increased (P < 0.05), while HDL-C was notably decreased (P < 0.05). The distribution frequency of abnormal LDL-C, HDL-C, and FBS in Case group was notably higher in contrast to Ctrl group (P < 0.05). LDL-C and FBS had no obvious effect on the genotypes and frequency distribution of alleles in CHD patients. However, the frequency distribution of genotypes of GA and AA and A allelic gene in patients with abnormal HDL-C was notably lower in contrast to those with normal HDL-C (P < 0.05). Logistic regression analysis showed that abnormal HDC-C with A allelic gene were independent risk factors for CHD (P = 0.001, OR = 1.934). The gene polymorphism of Glu504Lys locus of ALDH2 was closely related to the pathogenesis of CHD, A allelic gene may be a susceptibility gene for CHD, and patients with abnormal HDC-C and carried A allelic gene had relatively higher incidence of CHD.
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  • 文章类型: Journal Article
    外泌体microRNAs(miRNAs/miRs)是心血管疾病诊断和治疗的潜在生物标志物。高血糖在动脉粥样硬化的发展中起重要作用。本研究旨在探讨血清来源的外泌体miRNAs在冠心病(CHD)伴高血糖的表达谱,并确定预测冠状动脉病变的有效生物标志物。收集8例CHD和高血糖患者和8例CHD和血糖正常患者的血清样本,分离外泌体,并使用人miRNA微阵列过滤差异表达的miRNA(DEMI)。使用标准富集计算方法对DEMI的靶基因进行基因本体论(GO)和京都基因和基因组百科全书(KEGG)途径分析。应用受试者工作特征(ROC)曲线分析来评估选定的DEMI在预测冠状动脉狭窄严重程度中的价值。共有10个DEMI,包括四个上调的miRNA(hsa‑let‑7b‑5p,hsa‑miR‑4313,hsa‑miR‑4665‑3p和hsa‑miR‑940)和六个下调的miRNA(hsa‑miR‑4459,hsa‑miR‑4687‑3p,hsa‑miR‑6087、hsa‑miR‑6089、hsa‑miR‑6740‑5p和hsa‑miR‑6800‑5p),在冠心病和高血糖患者中进行筛查。GO分析表明,“细胞过程”,“单生物过程”和“生物调节”显著丰富。KEGG通路分析显示,'mTOR信号通路',“FoxO信号通路”和“神经营养蛋白信号通路”显著富集。在这些DEMI中,只有hsa‑let‑7b‑5p表达与血红蛋白A1C水平呈正相关,并与经皮冠状动脉介入治疗与心脏手术评分之间的协同作用呈正相关.ROC曲线显示,hsa‑let‑7b‑5p可以作为区分冠状动脉狭窄严重程度的有效生物标志物。总之,本研究表明,血清来源的外泌体hsa-let-7b-5p在CHD和高血糖患者中上调,并且可以作为冠状动脉狭窄严重程度的非侵入性生物标志物。
    Exosomal microRNAs (miRNAs/miRs) are potential biomarkers for the diagnosis and treatment of cardiovascular disease, and hyperglycemia serves an important role in the development of atherosclerosis. The present study aimed to investigate the expression profile of serum‑derived exosomal miRNAs in coronary heart disease (CHD) with hyperglycemia, and to identify effective biomarkers for predicting coronary artery lesions. Serum samples were collected from eight patients with CHD and hyperglycemia and eight patients with CHD and normoglycemia, exosomes were isolated and differentially expressed miRNAs (DEMIs) were filtered using a human miRNA microarray. Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analyses were performed using standard enrichment computational methods for the target genes of DEMIs. Receiver operating characteristic (ROC) curve analysis was applied to evaluate the values of the selected DEMIs in predicting the severity of coronary stenosis. A total of 10 DEMIs, including four upregulated miRNAs (hsa‑let‑7b‑5p, hsa‑miR‑4313, hsa‑miR‑4665‑3p and hsa‑miR‑940) and six downregulated miRNAs (hsa‑miR‑4459, hsa‑miR‑4687‑3p, hsa‑miR‑6087, hsa‑miR‑6089, hsa‑miR‑6740‑5p and hsa‑miR‑6800‑5p), were screened in patients with CHD and hyperglycemia. GO analysis showed that the \'cellular process\', \'single‑organism process\' and \'biological regulation\' were significantly enriched. KEGG pathway analysis revealed that the \'mTOR signaling pathway\', \'FoxO signaling pathway\' and \'neurotrophin signaling pathway\' were significantly enriched. Among these DEMIs, only hsa‑let‑7b‑5p expression was positively correlated with both hemoglobin A1C levels and Synergy between Percutaneous Coronary Intervention with Taxus and Cardiac Surgery score. ROC curves showed that hsa‑let‑7b‑5p could serve as an effective biomarker for differentiating the severity of coronary stenosis. In conclusion, the present study demonstrated that serum‑derived exosomal hsa‑let‑7b‑5p is upregulated in patients with CHD and hyperglycemia, and may serve as a noninvasive biomarker for the severity of coronary stenosis.
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