• 文章类型: Case Reports
    甘草乳球菌(L.garviae)是属于链球菌科的革兰氏阳性球菌。虽然主要是在养鱼场引起出血性败血症的病原体,它可以作为人类罕见的机会病原体。Bravo等人的2021年病例报告。当时全世界记录的由L.garviae引起的感染性心内膜炎不到30例[1]。本病例报告描述了全球记录的第27例病例和美国记录的第7例L.garviae引起人工瓣膜感染性心内膜炎的病例[1]。在未经巴氏杀菌的乳制品中发现了L.garviae,生鱼,和肉(猪肉,牛肉,和家禽),但是人类传播的途径仍然不清楚[3]。似乎对有人工瓣膜的人有偏爱,免疫受损状态,之前的胃肠手术,胃肠道疾病(结肠息肉和憩室病),以及使用降酸药物[1-3]。感染性心内膜炎是由甘草引起的最常见的全身性疾病[1-4]。这份报告详述了一名75岁男性的案例,有多种合并症和危险因素,因“症状性贫血”入院。临床高度怀疑,再加上血红蛋白对输血的反应不足,正常的贫血检查,和血培养液呈阳性,促进经食管超声心动图(TEE)。然而,结果为阴性。因此,进行了18F-氟代脱氧葡萄糖正电子发射断层扫描/计算机断层扫描(18FDGPET/CT).扫描显示主动脉瓣置换术中的摄取增加,这与链球菌菌血症的情况下的人工瓣膜心内膜炎一致。
    Lactococcus garviae (L. garviae) is a gram-positive coccus belonging to the Streptococcaceae family. While primarily a pathogen in fish farms causing hemorrhagic sepsis, it can act as a rare opportunistic pathogen in humans. A 2021 case report by Bravo et al. documented less than 30 cases of infective endocarditis caused by L. garviae worldwide at that time [1]. This case report describes the 27th documented case globally and 7th documented case in the USA of L. garviae causing infective endocarditis of a prosthetic valve [1]. L. garviae is found in unpasteurized dairy products, raw fish, and meat (pork, beef, and poultry), but the route of human transmission remains unclear [3]. It seems to have a predilection for individuals with prosthetic valves, immunocompromised states, prior gastrointestinal surgery, gastrointestinal disorders (colon polyps and diverticulosis), and the use of acid-reducing medications [1-3]. Infective endocarditis is the most common systemic disease caused by L. garviae [1-4]. This report details the case of a 75-year-old male, with multiple comorbidities and risk factors for L. garviae infection who was admitted for \"symptomatic anemia\". High clinical suspicion, coupled with an inadequate hemoglobin response to transfusion, a normal anemia workup, and blood cultures positive for L. garviae, promoted a transesophageal echocardiogram (TEE). However, the results were negative. Consequently, an 18F-fluorodeoxyglucose positron emission tomography/computed tomography scan (18FDG PET/CT) was performed. The scan revealed increased uptake in the aortic valve replacement consistent with prosthetic valve endocarditis in the setting of Lactococcus garviae bacteremia.
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  • 文章类型: Journal Article
    高甘油三酯血症(HTG)是一种常见的血脂异常,与心血管疾病和胰腺炎的风险增加有关。众所周知,严重的疾病病例通常具有潜在的遗传原因。在这项研究中,我们确定了一系列巴西重度HTG患者中甘油三酯代谢相关基因的频率和变异谱。共有212名HTG非常高的患者,定义为空腹甘油三酯(TG)≥880mg/dL,这项研究包括进行了多基因小组测试。在212例患者中,有28例发现了种系有害变异(即致病性/可能致病性(P/LP)变异)。反映了我们队列中13%的总体诊断率。在87例患者中发现了未知意义的变异(VUS)。并代表该数据集中80%的检测到的变体。我们确认LPL是重度HTG患者中最常见的突变基因,我们只有一例家族性乳糜微粒血症的疑似病例,在我们的队列中,由LMF1中的纯合变体引起。值得注意的是,我们报告了16种不同的新变体(P/LP和VUS),他们每个人都代表一个案例,以前没有在任何公共数据库或其他研究中报告。我们的数据扩展了我们对巴西人群中重度HTG患者的遗传变异谱的认识,通常在公共基因组数据库中代表性不足,也是该国遗传咨询和医疗保健计划的宝贵临床资源。
    Hypertriglyceridemia (HTG) is a common dyslipidemia associated with an increased risk of cardiovascular disease and pancreatitis. It is well stablished that the severe cases of disease often present with an underlying genetic cause. In this study, we determined the frequency and variation spectrum of genes involved in the triglyceride metabolism in a series of Brazilian patients with severe HTG. A total of 212 patients with very high HTG, defined with fasting triglycerides (TG) ≥ 880 mg/ dL, that underwent a multi-gene panel testing were included in this research. Germline deleterious variants (i.e. Pathogenic/Likely Pathogenic (P/LP) variants) were identified in 28 out of 212 patients, reflecting an overall diagnostic yield of 13% in our cohort. Variants of unknown significance (VUS) were identified in 87 patients, and represent 80% of detected variants in this dataset. We confirm the LPL as the most frequently mutated gene in patients with severe HTG, and we had only one suspected case of familial chylomicronemia syndrome, caused by a homozygous variant in LMF1, in our cohort. Notably, we report 16 distinct and novel variants (P/LP and VUS), each of them representing a single case, not previously reported in any public databases or other studies. Our data expand our knowledge of genetic variation spectrum in patients with severe HTG in the Brazilian population, often underrepresented in public genomic databases, being also a valuable clinical resource for genetic counseling and healthcare programs in the country.
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  • 文章类型: Journal Article
    肺动脉平滑肌细胞(PASMC)功能与肺动脉高压(PH)的发病机理有关,肺动脉高压是急性肺栓塞(APE)的一种危及生命的并发症。本研究旨在探讨微小RNA(miR)-221-3p在APE-PH患者中的表达模式及其在PASMCs增殖和迁移中的作用。收集APE-PH患者的临床资料及静脉血。检测血清中miR-221-3p和磷酸酶和张力蛋白同源物(PTEN)的表达水平,其次是miR-221-3p诊断效能的受试者特征曲线分析。用miR-221-3p模拟物和PTEN过表达的载体转染PASMC,然后评估细胞活力,扩散,通过细胞计数试剂盒-8,5-乙炔基-2'-脱氧尿苷,Transwell,和伤口愈合试验。miR-221-3p与PTEN3'UTR区之间的结合通过双荧光素酶测定来证明。miR-221在APE-PH患者血清中上调,显示出良好的诊断效能,临界值为1.155,灵敏度66.25%,和67.50%的特异性。miR-221与APE-PH患者PTEN呈负相关。miR-221过表达在体外促进PASMCs增殖和迁移。miR-221-3p结合PTEN3'UTR区以降低PTEN蛋白水平。PTEN过表达取消了miR-221-3p在PASMC中的促进作用。总的来说,miR-221-3p靶向PTEN以促进PASMC增殖和迁移。
    Pulmonary arterial smooth muscle cells (PASMCs) functions are associated with the pathogenesis of pulmonary hypertension (PH) which is a life-threatening complication of acute pulmonary embolism (APE). This study sought to explore the expression pattern of microRNA (miR)-221-3p in APE-PH patients and its role in PASMCs proliferation and migration. The clinical data and venous blood of APE-PH patients were collected. The expression levels of miR-221-3p and phosphatase and tensin homolog (PTEN) in serum were determined, followed by receiver operator characteristic curve analysis of miR-221-3p diagnostic efficacy. PASMCs were transfected with miR-221-3p mimics and PTEN-overexpressed vector, followed by assessment of cell viability, proliferation, and migration through cell counting kit-8, 5-ethynyl-2\'-deoxyuridine, Transwell, and wound healing assays. The binding between miR-221-3p and PTEN 3\'UTR region was testified by the dual-luciferase assay. miR-221 was upregulated in the serum of APE-PH patients and presented with good diagnostic efficacy with 1.155 cutoff value, 66.25% sensitivity, and 67.50% specificity. miR-221 was negatively correlated with PTEN in APE-PH patients. miR-221 overexpression facilitated PASMCs proliferation and migration in vitro. miR-221-3p bound to PTEN 3\'UTR region to decrease PTEN protein levels. PTEN overexpression abolished the promotive role of miR-221-3p in PASMCs. Overall, miR-221-3p targeted PTEN to facilitate PASMC proliferation and migration.
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  • 文章类型: Journal Article
    研究多囊卵巢综合征(PCOS)与高尿酸血症之间的潜在关联,并阐明潜在的促成因素。
    对603名PCOS女性和604名无PCOS女性进行回顾性研究。人体测量特征,生殖激素概况,测量并比较两组患者的代谢参数。对SUA水平和其他参数之间的相关性进行检查以辨别潜在的相关性。
    与没有PCOS的女性相比,PCOS女性的血清尿酸水平和高尿酸血症的发生率均显示出统计学上的显着升高。尽管如此,根据体重指数(BMI)对研究对象进行分层后,肥胖亚组之间未发现这种统计学差异.Pearson的相关分析强调了BMI作为影响女性SUA水平的一个强有力的因素,无论其PCOS状态如何。此外,多变量线性回归模型表明SUA水平与几个变量之间存在显著正相关,即硫酸脱氢表雄酮(DHEA-S),游离雄激素指数(FAI),总胆固醇(TC),甘油三酯(TG),游离脂肪酸(FFA),空腹胰岛素(FINS),胰岛素抵抗的稳态模型评估(HOMA-IR),胰岛素曲线下面积(AUC-I),丙氨酸氨基转移酶(ALT),和天冬氨酸氨基转移酶(AST)。此外,值得注意的是,高尿酸血症的患病率与空腹血糖(FPG)水平呈正相关,而反过来,它与雌二醇(E2)水平呈负相关。
    PCOS与SUA水平显著升高和高尿酸血症患病率相关。HA,IR,血脂异常可能是PCOS女性高尿酸血症发病的介质。
    UNASSIGNED: To examine the potential association between polycystic ovary syndrome (PCOS) and hyperuricemia and to elucidate the underlying contributory factors.
    UNASSIGNED: Retrospective study on 603 women with PCOS and 604 women without PCOS. Anthropometric features, reproductive hormone profiles, and metabolic parameters were measured and compared between two groups of patients. Examinations of correlations between SUA levels and other parameters were conducted to discern potential correlations.
    UNASSIGNED: Both serum uric acid levels and the incidence of hyperuricemia exhibited statistically significant elevations in women with PCOS when compared to their counterparts without PCOS. Nonetheless, this statistical difference was not found between the obese subgroup after stratifying study subjects by body mass index (BMI). Pearson\'s correlation analysis underscored the prominence of BMI as a robust factor influencing SUA levels in women, regardless of their PCOS status. Furthermore, multivariable linear regression model demonstrated significant positive associations between SUA levels and several variables, namely dehydroepiandrosterone sulfate (DHEA-S), free androgen index (FAI), total cholesterol (TC), triglycerides (TG), free fatty acids (FFA), fasting insulin (FINS), homeostatic model assessment of insulin resistance (HOMA-IR), area under the curve for insulin (AUC-I), alanine aminotransferase (ALT), and aspartate aminotransferase (AST). Additionally, it is noteworthy that the prevalence of hyperuricemia exhibited a positive association with fasting plasma glucose (FPG) levels, while conversely, it displayed a negative association with estradiol (E2) levels.
    UNASSIGNED: PCOS is associated with a significant elevation of SUA level and hyperuricemia prevalence. HA, IR, and dyslipidemia may be the mediators in the pathogenesis of hyperuricemia in women with PCOS.
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  • 文章类型: Case Reports
    Millard-Gubler综合征是由下脑桥区域的病变引起的脑桥综合征。它的特征是同侧面瘫和VI轻瘫和对侧腕臂麻痹。我们介绍一个女病人的病例,G4P2A1,妊娠21周时,患有先兆子痫,视力模糊的投诉,复视,和右侧偏瘫,Millard-Gubler综合征的临床诊断。神经影像学检查显示,向球旁桥交界处中央部分的实质内出血。进行了广泛的病因研究,以确定妊娠期高血压疾病综合征的原因。早期死产分娩后,患者的神经功能缺损得到了令人满意的改善。
    Millard-Gubler syndrome is a pontine syndrome caused by a lesion in the lower pons region. It is characterised by ipsilateral facial paralysis and VI paresis and contralateral brachiocrural palsy. We present the case of a female patient, G4P2A1, at 21 weeks of gestation, with preeclampsia, complaints of blurred vision, diplopia, and right hemiparesis, in whom a clinical diagnosis of Millard-Gubler syndrome was made. Neuroimaging showed an intraparenchymal haemorrhage towards the central portion of the bulbopontine junction. An extensive aetiological study was carried out to determine the cause of the hypertensive disorder syndrome during pregnancy. The patient improved satisfactorily from the neurological deficit after delivery of an early stillbirth.
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  • 文章类型: Case Reports
    三房是一种罕见的先天性心脏异常,其中膜将左心房(LA;险恶)或右心房(dexter)分为两个隔室。它也是一个长期被遗忘的原因心房颤动(AF)和高得多的血液停滞率,特别是在洛杉矶的附加隔膜的近端。在这个案例报告中,我们面临的CHA2DS2-VASc评分为1的非瓣膜性房颤患者由于Cor三房室狭窄(CTS)。在这种特殊情况下开始使用抗凝剂的决定引起争议,所以我们回顾了文献来评估和解决它。我们介绍了我们的病例,并讨论了在这种独特的临床情况下抗凝剂的适应症,伴随着文献综述。在特殊的CTS和AF病例中,面对启动抗凝剂的困境,应个体化,需要更多的调查。然而,直到这一刻,根据类似的报道,除了CHA2DS2-VASc评分外,将CTS本身视为额外的风险分层标记物似乎是合理的,直到手术切除.考虑到CTS是正常窦性心律患者抗凝的唯一指征是一个复杂的问题,需要进一步研究。
    Cor triatriatum is a rare congenital heart abnormality in which a membrane separates the left atrium (LA; sinister) or the right atrium (dexter) into two compartments. It is also a long-forgotten cause of atrial fibrillation (AF) and substantially higher rates of blood stagnation, particularly proximal to the additional septum in the LA. In this case report, we faced a CHA2DS2-VASc score of 1 in patients with non-valvular AF due to Cor triatriatum sinister (CTS). The decision to start anticoagulants in this particular case was controversial, so we reviewed the literature to assess and address it. We present our case and discuss the indication of anticoagulants in this unique clinical scenario, accompanied by a literature review. Facing this dilemma of starting anticoagulants in special cases of CTS and AF should be individualized and need more investigation. However, till this moment, based on similar reports, it seems to be rational to consider CTS Per se as an additional risk stratification marker beyond the CHA2DS2-VASc score start anticoagulant until the surgical resection. Considering CTS as the sole indication of anticoagulant in patients with normal sinus rhythm is a complex matter that needs further investigation.
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  • 文章类型: Journal Article
    我们进行了一项概述,以评估与COVID-19疫苗相关的免疫不良反应,指导更安全的选择,并为临床医生提供循证信息。
    回顾了PubMed关于疫苗不良反应的43项研究,Embase,和WebofScience。单臂荟萃分析估计的汇总效果,发病率,介绍,等。使用单臂荟萃分析进行概述,并根据“系统评价和荟萃分析(PRISMA)的首选报告项目”中概述的指南报告了发现,该报告专门针对心肌炎和血栓形成。在筛选了2591篇文章后,42项研究符合纳入标准。使用AMSTAR2评估方法学质量。分歧通过协商一致解决。数据分析利用R软件中的随机效应模型来估计所选不良事件的发生率。
    在删除1,198个重复项并从总共2,591个中筛选出无关文章后,我们纳入了42个研究。接种疫苗的不良反应包括心肌炎,血栓形成,皮肤反应,GBS,等。血栓形成和心肌炎是与疫苗接种相关的最危险的疾病。6%的Vector疫苗接种者发生心肌炎,与61%的mRNA疫苗接种者相比。Vector疫苗接种后(91%)血栓形成比mRNA疫苗接种后(9%)更常见。此外,8项研究进行了抗PF4抗体检测,阳性率为67%.Meta分析显示,在所有疫苗诱导的血栓性血小板减少症患者中,66%的患者发生脑静脉窦血栓,43%发生颅内出血。接种疫苗的患者深静脉血栓形成和肺血栓栓塞的发生率分别为13%和23%,分别,合并病例死亡率为30%。
    本概述的结果表明,大多数不良反应是自限性的,需要最少的干预,而心肌炎和血栓形成等罕见事件构成潜在的致命威胁。
    UNASSIGNED: We conducted an overview to assess immune adverse effects associated with the COVID-19 vaccine, guiding safer choices and providing evidence-based information to clinicians.
    UNASSIGNED: Forty-three studies on adverse effects of vaccines were reviewed from PubMed, Embase, and Web of Science. Single-arm meta-analyses estimated summary effects, incidence, presentation, etc. An overview using single-arm meta-analysis and reported the findings following the guidelines outlined in the \'Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) specifically focusing on myocarditis and thrombosis. After screening 2,591 articles, 42 studies met the inclusion criteria. Methodological quality was evaluated using AMSTAR 2. Disagreements were resolved via consensus. Data analysis utilized a random-effects model in R software to estimate incidence rates of selected adverse events.
    UNASSIGNED: After removing 1,198 duplicates and screening out irrelevant articles from a total of 2,591, we included 42 studies. Adverse reactions to vaccinations include myocarditis, thrombosis, skin reactions, GBS, etc. thrombosis and myocarditis are the most dangerous diseases associated with vaccination. Myocarditis occurred in 6% of Vector vaccine recipients, compared to 61% of mRNA vaccine recipients. Thrombosis was more common after Vector vaccination (91%) than after mRNA vaccination (9%). Furthermore, eight studies conducted anti-PF4 antibody tests and yielded a positivity rate of 67%. Meta-analysis showed that among all patients with Vaccine-induced Thrombotic Thrombocytopenia, cerebral venous sinus thrombosis occurred in 66%, and intracranial hemorrhage occurred in 43%. The rates of deep vein thrombosis and pulmonary thromboembolism in vaccinated patients were 13% and 23%, respectively, with a pooled case fatality rate of 30%.
    UNASSIGNED: The results of this overview indicate the majority of adverse reactions are self-limiting and require minimal intervention, while rare occurrences such as myocarditis and thrombosis pose a potentially fatal threat.
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  • 文章类型: Journal Article
    暂无摘要。
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  • 文章类型: Journal Article
    肺静脉隔离(PVI)是治疗心房颤动(AF)和使用单次注射技术的金标准,如冷冻球囊消融(CBA)和脉冲场消融(PFA)使用五线导管,已获得突出地位。最近的研究假设PFA可能优于CBA,尽管手术疗效和安全性数据不一致.进行荟萃分析以比较两种治疗AF的能量来源。
    对研究结果进行了结构化的系统数据库搜索和荟萃分析,围手术期并发症,和/或接受CBA或PFA治疗的房颤患者的手术参数。纳入了来自3805名患者的11项研究报告数据。与CBA相比,PFA隔离肺静脉与房颤/房性心动过速的复发率显着降低[比值比(OR)=0.73,95%置信区间(CI)=0.54-0.98,I2=20%]和更少的围手术期并发症(OR=0.62,95%CI=0.40-0.96,I2=6%)。PFA术后并发症发生率较低主要是由于膈神经损伤较少(OR=0.19,95%CI=0.08-0.43,I2=0%)。然而,PFA后心脏压塞病例较多(OR=2.56,95%CI=1.01~6.49,I2=0%)。此外,使用PFA进行PVI与较短的总手术时间相关[平均差(MD)=-9.68,95%CI=-14.92至-4.43分钟,I2=92%]和较低的辐射暴露(MD=-148.07,95%CI=-276.50至-19.64µGy·mI2=7%)。
    我们的结果表明,PVI的PFA,与CBA相比,可以缩短手术时间,降低心律失常复发和降低围手术期并发症的风险。随机对照试验需要证实我们的发现。
    UNASSIGNED: Pulmonary vein isolation (PVI) represents the gold standard in the treatment of atrial fibrillation (AF) and the use of single-shot techniques, such as cryoballoon ablation (CBA) and pulsed field ablation (PFA) using a pentaspline catheter, has gained prominence. Recent studies hypothesize that PFA might be superior to CBA, although procedural efficacy and safety data are inconsistent. A meta-analysis was conducted to compare both energy sources for the treatment of AF.
    UNASSIGNED: A structured systematic database search and meta-analysis were performed on studies investigating outcomes, periprocedural complications, and/or procedural parameters of AF patients treated by either CBA or PFA. Eleven studies reporting data from 3805 patients were included. Pulmonary vein isolation by PFA was associated with a significantly lower recurrence of atrial fibrillation/atrial tachycardia [odds ratio (OR) = 0.73, 95% confidence interval (CI) = 0.54-0.98, I2 = 20%] and fewer periprocedural complications (OR = 0.62, 95% CI = 0.40-0.96, I2 = 6%) compared to CBA. The lower complication rate following PFA was mainly driven by fewer phrenic nerve injuries (OR = 0.19, 95% CI = 0.08-0.43, I2 = 0%). However, there were more cases of cardiac tamponades after PFA (OR = 2.56, 95% CI = 1.01-6.49, I2 = 0%). Additionally, using PFA for PVI was associated with shorter total procedure times [mean difference (MD) = -9.68, 95% CI = -14.92 to -4.43 min, I2 = 92%] and lower radiation exposure (MD = -148.07, 95% CI = -276.50 to -19.64 µGy·mI2 = 7%).
    UNASSIGNED: Our results suggest that PFA for PVI, compared to CBA, enables shorter procedure times with lower arrhythmia recurrence and a reduced risk of periprocedural complications. Randomized controlled trials need to confirm our findings.
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  • 文章类型: Journal Article
    接受经导管主动脉瓣置换术(TAVR)的患者中有15%发生亚临床小叶血栓形成(SLT)。TAVR是一种用机械瓣膜代替有缺陷的主动脉瓣的程序。主动脉瓣置换术可以通过心脏直视手术进行;这称为外科主动脉瓣置换术(SAVR)。一个重要的问题是确定无症状的SLT患者的最佳治疗方案。包括使用口服抗凝(OAC)。
    系统评价。
    科学文献中最相关的已发表研究(原始论文和评论)通过在线搜索和批判性评估,国际索引数据库PubMed,Medline,和Cochrane评论。使用“经导管瓣膜置换术”和“亚临床小叶血栓形成”等关键词进行检索。根据预定义的标准对选定的研究进行了严格的纳入评估。
    该综述检查了TAVR后SLT的患病率和特征。要注意,与SAVR相比,TAVR中SLT的发生率更高。双重抗血小板治疗,用于TAVR后的抗血栓治疗方案,可能会加速SLT的进展,这可能导致小叶的活动性受损和压力梯度的恶化。
    在常规抗血栓治疗中使用双重抗血小板药物倾向于加速TAVI后的初始亚临床小叶血栓形成,这导致小叶活动性的发展限制和压差的增加。
    UNASSIGNED: Subclinical leaflet thrombosis (SLT) develops in 15% of patients undergoing trans-catheter aortic valve replacement (TAVR). TAVR is a procedure in which a faulty aortic valve is replaced with a mechanical one. An aortic valve replacement can be done with open-heart surgery; this is called surgical aortic valve replacement (SAVR). A significant problem is defining the best course of treatment for asymptomatic individuals with SLT post-TAVR, including the use of oral anticoagulation (OAC) in it.
    UNASSIGNED: Systematic review.
    UNASSIGNED: The most pertinent published research (original papers and reviews) in the scientific literature were searched for and critically assessed using the online, internationally indexed databases PubMed, Medline, and Cochrane Reviews. Keywords like \"Transcatheter valve replacement\" and \"Subclinical leaflet thrombosis\" were used to search the papers. Selected studies were critically assessed for inclusion based on predefined criteria.
    UNASSIGNED: The review examined the prevalence and characteristics of SLT after TAVR. To note, the incidence of SLT is seen to be higher in TAVR compared SAVR. Dual antiplatelet therapy, which is utilized in antithrombotic regimens post-TAVR, can possibly hasten SLT progression which could result in the impaired mobility of leaflets and the worsening of pressure gradients.
    UNASSIGNED: The use of dual antiplatelet drugs in routine antithrombotic therapy tends to accelerate initial subclinical leaflet thrombosis after TAVI, which results in a developing restriction of leaflet mobility and an increase in pressure differences.
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