heparin

肝素
  • 文章类型: Journal Article
    硫酸化糖胺聚糖(GAG)如肝素是肥大细胞颗粒的主要组分,并形成其中储存生物源介质的基质。由于从肥大细胞释放的GAG在蠕虫排出中也起重要作用,了解GAG存储可以为肥大细胞功能提供新的见解。丁酸钠(NaBu),一种短链脂肪酸,引起人肥大细胞(HMC-1)颗粒内的超微结构变化,并增加其组胺含量。因此,我们假设NaBu处理也会改变多糖如GAG的储存。NaBu(1mM)以时间和浓度依赖性方式显着增加GAG含量和粒度,而不影响细胞活力和代谢活性。NaBu增加了与肝素生物合成相关的酶的表达(GLCE,NDST1,NDST2,HS6ST1和GALT1)以时间依赖性方式。胆固醇丁酸酯乳剂(CholButE)在24和48小时后增加了肝素含量,并适度改变了与肝素生物合成有关的基因的表达。类似于NaBu,CholButE减少细胞增殖而不显著改变活力或代谢活性。这些数据表明,丁酸盐增加了人肥大细胞中肝素的合成和储存,也许是通过改变它们的代谢途径.
    Sulphated glycosaminoglycans (GAGs) such as heparin are a major component of mast cell granules and form the matrix within which biogenic mediators are stored. Since GAGs released from mast cells also play an important role in helminth expulsion, understanding GAG storage can offer new insights into mast cell function. Sodium butyrate (NaBu), a short-chain fatty acid, causes ultrastructural changes within the granules of human mast cells (HMC-1) and increases their histamine content. Therefore, we hypothesized that NaBu treatment would also modify the storage of polysaccharides such as GAGs. NaBu (1 mM) significantly increased GAG content and granularity in a time- and concentration-dependent manner without affecting cell viability and metabolic activity. NaBu increased the expression of enzymes associated with heparin biosynthesis (GLCE, NDST1, NDST2, HS6ST1, and GALT1) in a time-dependent manner. A cholesteryl butyrate emulsion (CholButE) increased heparin content after 24 and 48 h and modestly altered the expression of genes involved in heparin biosynthesis. Similar to NaBu, CholButE reduced cell proliferation without significantly altering viability or metabolic activity. These data show that butyrate increases the synthesis and storage of heparin in human mast cells, perhaps by altering their metabolic pathways.
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  • 文章类型: Journal Article
    背景:Bivalirudin,一种直接的凝血酶抑制剂,用于抗凝治疗,作为肝素的替代品,尤其是在心血管手术期间,如经皮冠状动脉介入治疗。
    目的:探讨比伐卢定对老年急性冠脉综合征(ACS)患者干预后心肌微循环的影响及其对心脏不良事件的影响。
    方法:总共,本研究纳入了2020年6月至2022年6月在我院诊断为急性心肌的165例患者。于2020年6月至2022年6月选取资料完整的老年ACS患者进行介入治疗。研究队列随机分为研究组(n=80,给予比伐卢定)和对照组(n=85,给予普通肝素)。经过6个月的随访,紧急情况处理时间的差异,包括冠状动脉介入治疗,心功能指标,心血管事件的发生,和复发率,进行了分析。
    结果:在研究队列之间观察到显著差异,观察组各阶段的急诊处理时间均较短:急诊分级;诊断测试;实施冠状动脉介入治疗;急诊治疗结论(P<0.05)。此外,观察组左心室射血分数明显高于对照组(P<0.05),肌酸激酶-MB和纽约心脏协会评分明显低于对照组(P<0.05)。
    结论:在接受ACS介入治疗的老年患者中,比伐卢定管理导致激活凝血时间成就率增加,增强心肌再灌注,降低出血并发症和不良心脏事件的发生率。
    BACKGROUND: Bivalirudin, a direct thrombin inhibitor, is used in anticoagulation therapies as a substitute for heparin, especially during cardiovascular procedures such as percutaneous coronary intervention.
    OBJECTIVE: To explore the effect of bivalirudin on myocardial microcirculation following an intervention and its influence on adverse cardiac events in elderly patients with acute coronary syndrome (ACS).
    METHODS: In total, 165 patients diagnosed with acute myocardial at our hospital between June 2020 and June 2022 were enrolled in this study. From June 2020 to June 2022, elderly patients with ACS with complete data were selected and treated with interventional therapy. The study cohort was randomly divided into a study group (n = 80, administered bivalirudin) and a control group (n = 85, administered unfractionated heparin). Over a 6-mo follow-up period, differences in emergency processing times, including coronary intervention, cardiac function indicators, occurrence of cardiovascular events, and recurrence rates, were analyzed.
    RESULTS: Significant differences were observed between the study cohorts, with the observation group showing shorter emergency process times across all stages: Emergency classification; diagnostic testing; implementation of coronary intervention; and conclusion of emergency treatment (P < 0.05). Furthermore, the left ventricular ejection fraction in the observation group was significantly higher (P < 0.05), and the creatine kinase-MB and New York Heart Association scores were notably lower than those in the control group (P < 0.05).
    CONCLUSIONS: In elderly patients receiving interventional therapy for ACS, bivalirudin administration led to increased activated clotting time achievement rates, enhanced myocardial reperfusion, and reduced incidence of bleeding complications and adverse cardiac events.
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  • 文章类型: Journal Article
    孕妇出现凝血障碍的风险增加。普通肝素(HEP)和低分子量肝素(LMWHEp)在需要抗凝治疗的妊娠情况下被认为是选择性药物。除了抗凝血性能,HEP及其衍生物表现出其他性质,包括抗癌潜力。根据Globocan的最新数据,结直肠癌(CRC)是女性第二常见的恶性肿瘤,表现出一些特殊的特点,由于癌症症状与孕妇通常遇到的症状(如便秘或直肠出血)混淆,由于对胎儿和母亲的限制而延迟诊断,需要特殊治疗。
    本项工作的目的是追踪孕妇服用HEP和LMWHep的发生率和安全性,并分析其对HCT116结直肠癌细胞的潜力。
    分析从01.01.2022到31.12.2022住院的孕妇在提米什瓦拉紧急临床医院的肝素消耗量,妇产科诊所I,观察到44,6%的患者接受了以下药物治疗,未观察到用药风险.在HCT116细胞上测试时,肝素表现出显着的抗迁移作用(伤口愈合率为2,6%,当用HEP100UI浓度测试时,在使用Fraxiparine100UI的情况下,伤口愈合率为14.52%)。此外,观察到不同的细胞凋亡迹象,提示测试物质的促凋亡潜力。
    肝素仍然是有凝血障碍的孕妇的首选药物。显示出较高的安全性。对大肠癌癌系的检测突出了刺激未来研究的重要特性,建立抗肿瘤潜力和确切的作用机制。
    UNASSIGNED: Pregnant women manifest an increased risk of developing coagulation disorders. Unfractionated heparin (HEP) and low-molecular-weight heparin (LMWHep) are considered as selective medication in the case of pregnancy which needs anticoagulant treatment. In addition to anticoagulant properties, HEP and its derivatives manifest other properties including anti-cancer potential. According to Globocan\'s latest data, colorectal cancer (CRC) is the second most encountered form of malignancy in the case of women, manifesting some special particularities, as confusion of symptoms from cancer with symptoms encountered normally in pregnant women (such as constipation or rectal bleeding), delayed diagnosis because of limitations imposed both for the fetus and for the mother, and the need for special treatment.
    UNASSIGNED: The aim of the present work is to follow the incidence and safety of consumption of HEP and LMWHep in the case of pregnant women and to analyze their potential on the HCT 116 colorectal carcinoma cells.
    UNASSIGNED: Analyzing the consumption of heparins in case of pregnant women hospitalized from 01.01.2022 to 31.12.2022 at the Pius Brînzeu\" Emergency Clinical Hospital from Timisoara, Obstetrics and Gynecology Clinic I, it was observed that 44,6% of the patients were administered the following medication and no administration risks were observed. When tested on HCT 116 cells, heparins manifested a significant anti-migratory effect (with wound healing rates of 2,6%, when tested with HEP 100 UI concentration and 14.52% wound healing rates in case of fraxiparine 100 UI). In addition, different signs of apoptosis were observed, suggesting the pro-apoptotic potential of the tested substances.
    UNASSIGNED: Heparins remain the preferred medication to be administered to pregnant women with the potential for coagulation disorders, showing a high safety profile. Testing on the cancerous line of colorectal carcinoma highlights important properties that stimulate future studies, to establish the anti-tumor potential and the exact mechanism of action.
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  • 文章类型: Journal Article
    尽管内窥镜手术后延迟出血已成为一个问题,目前,没有适当的动物模型来验证预防它的方法。本研究旨在建立胃肠道内镜术后迟发性出血的动物模型。
    使用从插入猪颈外静脉的导管中抽取的血液样本测量激活凝血时间(ACT)(n=7;年龄,6个月;平均体重,13.8kg)在全身麻醉下使用切下法。经口插入上消化道内窥镜,通过使用结扎装置进行内窥镜粘膜切除术,在胃中产生了12个粘膜缺损。在该时间点确认止血。肝素组(n=4)通过导管接受50单位/kg的普通肝素;在确认ACT≥200s10分钟后,开始连续肝素给药(50单位/kg/h)。24小时后,在全身麻醉下插入内窥镜以评估胃中的血容量和粘膜缺损部位的血液粘附程度.
    在肝素治疗组中观察到三只猪(75%)的延迟出血,开始连续肝素给药前的最大ACT>220s。在非治疗组(n=3)中,24h时未观察到长期ACT或延迟出血。
    在确认ACT为220s后,使用单剂量肝素和连续肝素给药,建立了胃肠道内镜手术后延迟出血的动物模型。
    UNASSIGNED: Although delayed bleeding after endoscopic procedures has become a problem, currently, there are no appropriate animal models to validate methods for preventing it. This study aimed to establish an animal model of delayed bleeding after endoscopic procedures of the gastrointestinal tract.
    UNASSIGNED: Activated coagulation time (ACT) was measured using blood samples drawn from a catheter inserted into the external jugular vein of swine (n = 7; age, 6 months; mean weight, 13.8 kg) under general anesthesia using the cut-down method. An upper gastrointestinal endoscope was inserted orally, and 12 mucosal defects were created in the stomach by endoscopic mucosal resection using a ligating device. Hemostasis was confirmed at this time point. The heparin group (n = 4) received 50 units/kg of unfractionated heparin via a catheter; after confirming that the ACT was ≥200 s 10 min later, continuous heparin administration (50 units/kg/h) was started. After 24 h, an endoscope was inserted under general anesthesia to evaluate the blood volume in the stomach and the degree of blood adherence at the site of the mucosal defect.
    UNASSIGNED: Delayed bleeding was observed in three swine (75%) in the heparin-treated group, who had a maximum ACT of >220 s before the start of continuous heparin administration. In the non-treated group (n = 3), no prolonged ACT or delayed bleeding was observed at 24 h.
    UNASSIGNED: An animal model of delayed bleeding after an endoscopic procedure in the gastrointestinal tract was established using a single dose of heparin and continuous heparin administration after confirming an ACT of 220 s.
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  • 文章类型: Journal Article
    目的:心源性休克(CS)与高死亡率相关。接受CS治疗的患者大多需要肝素治疗,这可能与肝素诱导的血小板减少症(HIT)等并发症有关。HIT代表与血小板下降和高凝性增加相关的严重状况,并且在重症监护医学中仍然是研究很少的领域。这项研究的主要目的是:1)确定CS的HIT患病率,2)评估用于HIT检查的常见诊断测试的性能,和3)比较排除和确认HIT的CS患者的结局。
    方法:回顾性双中心研究包括2010年1月至2022年11月18岁或以上确诊为CS和疑似HIT的成年患者。
    方法:位于慕尼黑路德维希-马克西米利安大学医院和波恩大学医院的心脏ICU。
    方法:在本回顾性分析中,纳入确诊为CS和疑似HIT的成年患者.基线特征的差异,死亡率,对排除和确诊HIT的患者的神经系统和安全性结局进行了评估.
    结果:在疑似HIT的病例中,在2808例患者中,有159例(5.7%)的筛查抗体呈阳性.在2808例患者中,有57例通过阳性功能测定证实了HIT,对应于2.0%的患病率。抗血小板因子4/肝素筛查抗体的阳性预测值为35.8%。住院总死亡率(58.8%vs.57.9%;p>0.999),1个月死亡率(47.1%vs.43.9%;p=0.781),和12个月的死亡率(58.8%vs.59.6%;p>0.999)在排除和确认HIT的患者之间相似,分别。此外,两组之间幸存者的神经系统结局没有显着差异(脑功能类别[CPC]评分1:8.8%vs.8.8%;p>0.999,CPC2:7.8%与12.3%;p=0.485)。
    结论:HIT是使用普通肝素治疗的CS患者的罕见并发症,与死亡率增加无关。此外,HIT确认与幸存者较差的神经系统预后无关。未来的研究应该旨在开发更精确的,标准化,和具有成本效益的策略来诊断HIT和预防并发症。
    OBJECTIVE: Cardiogenic shock (CS) is associated with high mortality. Patients treated for CS mostly require heparin therapy, which may be associated with complications such as heparin-induced thrombocytopenia (HIT). HIT represents a serious condition associated with platelet decline and increased hypercoagulability and remains a poorly researched field in intensive care medicine. Primary purpose of this study was to: 1) determine HIT prevalence in CS, 2) assess the performance of common diagnostic tests for the workup of HIT, and 3) compare outcomes in CS patients with excluded and confirmed HIT.
    METHODS: Retrospective dual-center study including adult patients 18 years old or older with diagnosed CS and suspected HIT from January 2010 to November 2022.
    METHODS: Cardiac ICU at the Ludwig-Maximilians University hospital in Munich and the university hospital of Bonn.
    METHODS: In this retrospective analysis, adult patients with diagnosed CS and suspected HIT were included. Differences in baseline characteristics, mortality, neurologic and safety outcomes between patients with excluded and confirmed HIT were evaluated.
    RESULTS: In cases of suspected HIT, positive screening antibodies were detected in 159 of 2808 patients (5.7%). HIT was confirmed via positive functional assay in 57 of 2808 patients, corresponding to a prevalence rate of 2.0%. The positive predictive value for anti-platelet factor 4/heparin screening antibodies was 35.8%. Total in-hospital mortality (58.8% vs. 57.9%; p > 0.999), 1-month mortality (47.1% vs. 43.9%; p = 0.781), and 12-month mortality (58.8% vs. 59.6%; p > 0.999) were similar between patients with excluded and confirmed HIT, respectively. Furthermore, no significant difference in neurologic outcome among survivors was found between groups (Cerebral Performance Category [CPC] score 1: 8.8% vs. 8.8%; p > 0.999 and CPC 2: 7.8% vs. 12.3%; p = 0.485).
    CONCLUSIONS: HIT was a rare complication in CS patients treated with unfractionated heparin and was not associated with increased mortality. Also, HIT confirmation was not associated with worse neurologic outcome in survivors. Future studies should aim at developing more precise, standardized, and cost-effective strategies to diagnose HIT and prevent complications.
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  • 文章类型: Journal Article
    目的:心源性休克(CS)与高死亡率相关。接受CS治疗的患者大多需要肝素治疗,这可能与肝素诱导的血小板减少症(HIT)等并发症有关。HIT代表与血小板下降和高凝性增加相关的严重状况,并且在重症监护医学中仍然是研究很少的领域。这项研究的主要目的是:1)确定CS的HIT患病率,2)评估用于HIT检查的常见诊断测试的性能,和3)比较排除和确认HIT的CS患者的结局。
    方法:回顾性双中心研究包括2010年1月至2022年11月18岁或以上确诊为CS和疑似HIT的成年患者。
    方法:位于慕尼黑路德维希-马克西米利安大学医院和波恩大学医院的心脏ICU。
    方法:在本回顾性分析中,纳入确诊为CS和疑似HIT的成年患者.基线特征的差异,死亡率,对排除和确诊HIT的患者的神经系统和安全性结局进行了评估.
    结果:在疑似HIT的病例中,在2808例患者中,有159例(5.7%)的筛查抗体呈阳性.在2808例患者中,有57例通过阳性功能测定证实了HIT,对应于2.0%的患病率。抗血小板因子4/肝素筛查抗体的阳性预测值为35.8%。住院总死亡率(58.8%vs.57.9%;p>0.999),1个月死亡率(47.1%vs.43.9%;p=0.781),和12个月的死亡率(58.8%vs.59.6%;p>0.999)在排除和确认HIT的患者之间相似,分别。此外,两组之间幸存者的神经系统结局没有显着差异(脑功能类别[CPC]评分1:8.8%vs.8.8%;p>0.999,CPC2:7.8%与12.3%;p=0.485)。
    结论:HIT是使用普通肝素治疗的CS患者的罕见并发症,与死亡率增加无关。此外,HIT确认与幸存者较差的神经系统预后无关。未来的研究应该旨在开发更精确的,标准化,和具有成本效益的策略来诊断HIT和预防并发症。
    Cardiogenic shock (CS) is associated with high mortality. Patients treated for CS mostly require heparin therapy, which may be associated with complications such as heparin-induced thrombocytopenia (HIT). HIT represents a serious condition associated with platelet decline and increased hypercoagulability and remains a poorly researched field in intensive care medicine. Primary purpose of this study was to: 1) determine HIT prevalence in CS, 2) assess the performance of common diagnostic tests for the workup of HIT, and 3) compare outcomes in CS patients with excluded and confirmed HIT.
    Retrospective dual-center study including adult patients 18 years old or older with diagnosed CS and suspected HIT from January 2010 to November 2022.
    Cardiac ICU at the Ludwig-Maximilians University hospital in Munich and the university hospital of Bonn.
    In this retrospective analysis, adult patients with diagnosed CS and suspected HIT were included. Differences in baseline characteristics, mortality, neurologic and safety outcomes between patients with excluded and confirmed HIT were evaluated.
    In cases of suspected HIT, positive screening antibodies were detected in 159 of 2808 patients (5.7%). HIT was confirmed via positive functional assay in 57 of 2808 patients, corresponding to a prevalence rate of 2.0%. The positive predictive value for anti-platelet factor 4/heparin screening antibodies was 35.8%. Total in-hospital mortality (58.8% vs. 57.9%; p > 0.999), 1-month mortality (47.1% vs. 43.9%; p = 0.781), and 12-month mortality (58.8% vs. 59.6%; p > 0.999) were similar between patients with excluded and confirmed HIT, respectively. Furthermore, no significant difference in neurologic outcome among survivors was found between groups (Cerebral Performance Category [CPC] score 1: 8.8% vs. 8.8%; p > 0.999 and CPC 2: 7.8% vs. 12.3%; p = 0.485).
    HIT was a rare complication in CS patients treated with unfractionated heparin and was not associated with increased mortality. Also, HIT confirmation was not associated with worse neurologic outcome in survivors. Future studies should aim at developing more precise, standardized, and cost-effective strategies to diagnose HIT and prevent complications.
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  • 文章类型: Journal Article
    背景技术用于脑血管造影和神经介入治疗的经桡动脉入路(TRA)已获得普及,但是与股动脉穿刺相比,桡动脉的狭窄直径和弱搏动降低了初始穿刺成功率。这项来自单个中心的回顾性研究评估了543例经桡动脉入路(TRA)进行脑血管造影的患者中桡动脉闭塞(RAO)的发生率和相关因素。材料与方法我们纳入了2021年7月至2024年2月接受TRA的543例患者。超声用于确定桡动脉是否闭塞。记录相关临床资料以评估RAO的发生率和影响因素。结果在DSA后24小时,我们进行了超声成像。患者分为RAO组(n=32)和非RAO组(n=511)。结果显示,RAO在没有添加肝素的抗痉挛药的患者中明显更高,他们更有可能需要三次以上的桡动脉穿刺尝试,并且倾向于使用Cordis穿刺针接受11厘米的桡动脉鞘(均P<0.05)。多因素logistic回归分析显示抗痉挛药中加入肝素(OR=0.076,95%CI:0.018~0.321,P<0.001),少于3次桡动脉穿刺尝试(OR=0.245,95%CI:0.111-0.541,P<0.001),使用16厘米的桡动脉鞘(OR=0.195,95%CI:0.067-0.564,P=0.003),使用Terumo穿刺针(OR=0.325,95%CI:0.148-0.717,P=0.005)可以降低桡动脉闭塞的发生率。结论我们的中心发现,在抗痉挛药物中加入肝素可减少桡动脉穿刺尝试的次数,使用16厘米的桡动脉鞘显着降低了经桡动脉脑血管造影后早期RAO的发生率。
    BACKGROUND The transradial approach (TRA) for cerebral angiography and neurointerventional treatment has gained popularity, but the narrow diameter and weak pulsation of the radial artery lower the initial puncture success rate compared to femoral artery puncture. This retrospective study from a single center evaluated the incidence of and factors associated with radial artery occlusion (RAO) in 543 patients who underwent transradial approach (TRA) for cerebral angiography. MATERIAL AND METHODS We included 543 patients who underwent TRA from July 2021 to February 2024. Ultrasound was used to determine whether the radial artery was occluded. Relevant clinical data were recorded to assess the incidence of and factors affecting RAO. RESULTS At 24 h after DSA, we performed ultrasound imaging. The patients were divided into an RAO group (n=32) and a non-RAO group (n=511). Results showed that RAO was significantly higher in patients who did not have add heparin to the antispasmodic agents, and they were more likely to have needed more than 3 radial artery puncture attempts, and tended to have received an 11-cm radial artery sheath with the Cordis puncture needles (all P<0.05). Multiple regression logistic analysis showed that adding heparin to the antispasmodic agents (OR=0.076, 95% CI: 0.018-0.321, P<0.001), having fewer than 3 radial artery puncture attempts (OR=0.245, 95% CI: 0.111-0.541, P<0.001), using a 16-cm radial artery sheath (OR=0.195, 95% CI: 0.067-0.564, P=0.003), and using Terumo puncture needles (OR=0.325, 95% CI: 0.148-0.717, P=0.005) can reduce the incidence of radial artery occlusion. CONCLUSIONS Our center found that adding heparin to the antispasmodic agents reduced the number of radial artery punctures attempts, and using a 16-cm radial artery sheath significantly lowered the incidence of early RAO after transradial cerebral angiography.
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  • 文章类型: Journal Article
    心脏手术是肝素诱导的血小板减少症(HIT)的高风险环境。然而,其发病率差异很大,血栓并发症的发生率,在这种情况下已经报告了死亡率。很少有研究专门针对这种情况下HIT的药理学管理。
    为了描述发病率,结果,以及我们队列中HIT患者的管理,并将其与出现血小板因子4/肝素抗体但没有血小板活化能力的患者进行比较。
    在单个高容量心脏手术中心对13,178例心脏手术进行了为期10年零6个月的回顾性观察研究。
    在0.22%的患者中诊断为HIT。伴有血栓栓塞并发症的HIT发生率为0.04%。登记了30天时的两起死亡,两者都适用于相关血栓形成的患者。4T评分显示99.9%的阴性预测值。免疫球蛋白G特异性化学发光测试阳性率高度预测HIT。华法林通常在手术后早期开始,尽管在诊断HIT时很少停止,随后未发生新的血栓栓塞并发症.血小板减少症似乎是一个不良的预后体征,不管是什么原因。
    虽然罕见,HIT的特点是在这种情况下死亡率很高,特别是如果发生血栓性并发症。应建立大型多中心研究或国际注册中心,以加强在这种情况下对HIT诊断和管理的科学证据。
    UNASSIGNED: Cardiac surgery is a high-risk setting for heparin-induced thrombocytopenia (HIT). However, large differences in its incidence, rate of thrombotic complications, and mortality have been reported in this context. Few studies address the pharmacologic management of HIT specifically in this setting.
    UNASSIGNED: To describe the incidence, outcomes, and management of patients with HIT in our cohort and to compare them with patients presenting platelet factor 4/heparin antibodies but without platelet-activating capacity.
    UNASSIGNED: A retrospective observational study was conducted over a period of 10 years and 6 months on 13,178 cardiac operations in a single high-volume cardiac surgery center.
    UNASSIGNED: HIT was diagnosed in 0.22% of patients. HIT with associated thromboembolic complications occurred in 0.04% of cases. Two deaths at 30 days were registered, both in patients with associated thrombosis. The 4T score showed a 99.9% negative predictive value. The immunoglobulin G-specific chemiluminescence test positivity rate was highly predictive of HIT. Warfarin was often started early after surgery, and although it was rarely stopped when the diagnosis of HIT was made, no new thromboembolic complications subsequently occurred. Thrombocytopenia appeared to be a poor prognostic sign, whatever the cause.
    UNASSIGNED: Although rare, HIT is characterized by high mortality in this setting, especially if thrombotic complications occur. Large multicentric studies or an international registry should be created to enhance the scientific evidence on HIT diagnosis and management in this context.
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  • 文章类型: Journal Article
    暂无摘要。
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  • 文章类型: Case Reports
    Methylenetetrahydrofolate reductase (MTHFR) enzyme is one of the key enzymes involved in the metabolism of folate. Mutations in this enzyme can lead to a procoagulant state. We present a case of a 20-year-old male with no known comorbidities, who presented with fever and hemoptysis and was diagnosed as a case of pulmonary embolism. He was found to have a homozygous mutation in the MTHFR gene that was responsible for his disease state. He was started on unfractionated heparin infusion and underwent catheter-directed thrombolysis. He showed marked improvement in his condition and was discharged on oral anticoagulants with an advice to follow-up.
    RésuméL’enzyme méthylènetétrahydrofolate réductase (MTHFR) est l’une des enzymes clés impliquées dans le métabolisme du folate. Les mutations de cette enzyme peuvent conduire à un état procoagulant. Nous présentons le cas d’un homme de 20 ans sans comorbidités connues, qui s’est présenté avec de la fièvre et une hémoptysie et a été diagnostiqué comme un cas d’embolie pulmonaire. Il s’est avéré qu’il présentait une mutation homozygote du gène MTHFR responsable de son état pathologique. Il a commencé une perfusion d’héparine non fractionnée et a subi une thrombolyse dirigée par cathéter. Il a montré une nette amélioration de son état et a été libéré sous anticoagulants oraux avec un conseil de suivi.
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