cerebral venous thrombosis

脑静脉血栓形成
  • 文章类型: Case Reports
    嗜酸性粒细胞增多是一种罕见的疾病,定义为绝对嗜酸性粒细胞计数持续升高大于1.5x109/L和/或组织嗜酸性粒细胞增多。这种情况可能是由许多不同的病因引起的,血液学(克隆)和非血液学(反应性)。反应性嗜酸性粒细胞增多症包括所有疾病,包括感染。嗜酸性粒细胞增多症患者可能由于多器官损伤而经历一系列临床后果,包括神经系统和血栓性并发症,与器官功能障碍和潜在危及生命的后遗症有关。脑静脉血栓形成(CVT)是用于描述脑中静脉和/或静脉窦的血栓性闭塞的术语。这种情况可能发生在所有年龄段,与嗜酸性粒细胞增多有关的CVT是一种罕见的疾病。由于血栓形成会导致脑引流阻塞,因此必须迅速进行疾病诊断。静脉充血,脑脊液重吸收中断,缺血性神经元损伤,脑水肿,出血,导致严重的神经系统并发症.由于嗜酸性粒细胞增多引起的CVT颅内出血的管理对于临床医生来说是一项具有挑战性的任务。基于抗凝治疗,全身性皮质类固醇,颅内压升高的管理,以及抗凝剂引起的潜在进行性出血。患者的预后通常取决于早期检测,提示,和适当的治疗。在这个案例报告中,我们讨论了一例罕见的儿童CVT伴嗜酸性粒细胞增多和登革热血清学阳性,在颅内出血的情况下,启发了在这个复杂场景的管理中考虑个性化策略的重要性。
    Hypereosinophilia is a rare condition, defined as a persistent elevation of absolute eosinophil count greater than 1.5x109/L and/or tissue eosinophilia. This condition can be caused by numerous different etiologies, both hematological (clonal) and non-hematological (reactive). Reactive hypereosinophilia encompasses all disorders, including infections. Patients with hypereosinophilia may experience a spectrum of clinical consequences due to multiple organ damage, including neurologic and thrombotic complications, associated with organ dysfunction and potentially life-threatening sequelae. Cerebral venous thrombosis (CVT) is the term used to describe thrombotic occlusion of veins and/or venous sinuses in the brain. This condition can occur at all ages and CVT related to hypereosinophilia is a rare disease. Diagnosis of the disease must be done quickly because thrombosis causes blockage of cerebral drainage, venous congestion, disruption of cerebrospinal fluid reabsorption, ischemic neuronal damage, cerebral edema, and hemorrhage, leading to severe neurological complications. Management of intracranial hemorrhage from CVT due to hypereosinophilia is a challenging task for clinicians, based on anticoagulation therapy, systemic corticosteroid, management of elevated intracranial pressure, and potentially progressive hemorrhage due to anticoagulant. The outcome of the patient generally relies on early detection, prompt, and appropriate treatment. In this case report, we discuss a rare case of CVT with hypereosinophilia and positive dengue serology in a child, in the context of intracranial hemorrhage, enlightening the importance of considering a personalized strategy in the management of this complex scenario.
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  • 文章类型: Journal Article
    自发性凸性蛛网膜下腔出血(cSAH)是一种在神经影像学上不同于动脉瘤性SAH的血管疾病,原因,和预后。在个别患者中可能会考虑几种原因,患者年龄对这些原因的区分价值有限。脑淀粉样血管病(CAA)是60岁以上人群中最常见的病因,但是年轻人必须考虑可逆性脑血管收缩综合征(RCVS)。CAA在过去的几年里获得了关注,但是在这种情况下,cSAH的最著名表现是由短暂性局灶性神经发作(TFNE)构成。CAA可能有炎症(CAA相关炎症),由于免疫抑制在解决缓解方面的功效,其诊断相关。其他原因是颅外和颅内动脉的血流动力学狭窄或闭塞,感染性心内膜炎(伴有或不伴有颅内感染性动脉瘤),原发性中枢神经系统血管炎,脑静脉血栓形成,更罕见的疾病。诊断工作是病因诊断的基础,包括神经成像技术,核医学技术,还有腰椎穿刺.正确的诊断是选择最有效和最适当的治疗方法的第一步。
    Spontaneous convexity subarachnoid hemorrhage (cSAH) is a vascular disease different from aneurysmal SAH in neuroimaging pattern, causes, and prognosis. Several causes might be considered in individual patients, with a limited value of the patient\'s age for discriminating among these causes. Cerebral amyloid angiopathy (CAA) is the most prevalent cause in people > 60 years, but reversible cerebral vasoconstriction syndrome (RCVS) has to be considered in young people. CAA gained attention in the last years, but the most known manifestation of cSAH in this context is constituted by transient focal neurological episodes (TFNEs). CAA might have an inflammatory side (CAA-related inflammation), whose diagnosis is relevant due to the efficacy of immunosuppression in resolving essudation. Other causes are hemodynamic stenosis or occlusion in extracranial and intracranial arteries, infective endocarditis (with or without intracranial infectious aneurysms), primary central nervous system angiitis, cerebral venous thrombosis, and rarer diseases. The diagnostic work-up is fundamental for an etiological diagnosis and includes neuroimaging techniques, nuclear medicine techniques, and lumbar puncture. The correct diagnosis is the first step for choosing the most effective and appropriate treatment.
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  • 文章类型: Journal Article
    背景:暴露于高海拔环境是脑静脉血栓形成(CVT)的危险因素,可能是由于高凝状态。本研究旨在通过与平原地区CVT患者的比较,探讨我国高海拔地区CVT患者的独特特征。
    方法:回顾性纳入2015年1月至2023年12月在西藏自治区人民医院(海拔3650m)和北京协和医院(海拔43.5m)连续收治的CVT患者。在这项研究中,来自高原和平原的患者被认为是两个独立的组。风险因素,临床和放射学表现,治疗,并对两组的结局进行分析比较。
    结果:总共169名CVT患者被纳入研究,高原48例,平原121例。平均年龄为27岁和34岁,女性分别占66.7%和54.5%。头痛(91.7%vs.71.1%,P=0.004),意识改变(31.3%vs.16.5%,P=0.033),出血(41.7%vs.19.0%,P=0.002),和静脉梗死(50.0%vs.25.6%,P=0.002)在影像学上更常见于高原患者。妊娠或产褥期在高原患者中明显更常见(25%与5.8%,P<0.001)。D-二聚体水平(1.7vs.0.8mg/LFEU,P=0.01),纤维蛋白原(3.7vs.3.0g/L,P<0.001),血红蛋白(157vs.129g/L,P=0.01),白细胞(9.6vs.7.5*1012/L,P<0.001)和高度敏感的C反应蛋白(20.2vs.3.2mg/L,高原患者的P=0.005)明显更高。高海拔地区患者接受抗凝治疗的比例较低(70.8%vs.93.4%,P<0.001)。在81.4%的高原患者和90.7%的低地患者中观察到良好的随访结果,中位随访时间分别为330天和703天。
    结论:在高原CVT患者中观察到更严重的临床和影像学表现以及突出的炎症和高凝状态。可能是由于暴露于高海拔的低氧环境。妊娠或产褥期在高原患者中更为常见。两组CVT患者的总体预后均良好。
    BACKGROUND: Exposure to a high-altitude environment is a risk factor for cerebral venous thrombosis (CVT) probably due to hypercoagulability. The study aims to explore the unique characteristics of CVT patients in high-altitude areas of China by comparing them with those in plain areas.
    METHODS: We retrospectively included consecutive patients with CVT admitted to Tibet Autonomous Region People\'s Hospital (altitude 3650 m) and Peking Union Medical College Hospital (altitude 43.5 m) between January 2015 and December 2023. Patients from the plateau and the plain were considered two independent groups in this study. The risk factors, clinical and radiological presentations, treatment, and outcomes were analyzed and compared between the two groups.
    RESULTS: A total of 169 patients with CVT were included in the study, 48 patients from plateau and 121 patients from plain. The median age was 27 and 34 years old, and women accounted for 66.7% and 54.5% respectively. Headache (91.7% vs. 71.1%, P = 0.004), altered consciousness (31.3% vs. 16.5%, P = 0.033), hemorrhage (41.7% vs. 19.0%, P = 0.002), and venous infarction (50.0% vs. 25.6%, P = 0.002) on imaging were more common in patients from plateau than those from plain. Pregnancy or puerperium was significantly more common in highland patients (25% vs. 5.8%, P < 0.001). The levels of D-Dimer (1.7 vs. 0.8 mg/L FEU, P = 0.01), fibrinogen (3.7 vs. 3.0 g/L, P < 0.001), hemoglobin (157 vs. 129 g/L, P = 0.01), white blood cells (9.6 vs. 7.5*1012/L, P < 0.001) and highly sensitive C-reactive protein (20.2 vs. 3.2 mg/L, P = 0.005) were remarkably higher in highland patients. The percentage of receiving anticoagulant therapy was lower in high-altitude patients (70.8% vs. 93.4%, P < 0.001). Favorable outcome at follow-up was observed in 81.4% of highland patients and 90.7% of lowland patients, with a median follow-up time of 330 days and 703 days respectively.
    CONCLUSIONS: The more severe clinical and imaging manifestations along with prominent inflammatory and hypercoagulable states were observed in plateau CVT patients, probably due to exposure to the hypoxic environment at high altitude. Pregnancy or puerperium were more common in highland patients. The overall prognosis of CVT patients from both groups were favorable.
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  • 文章类型: Journal Article
    背景:脑静脉血栓形成(CVT)是自发性颅内低血压(SIH)的罕见并发症。因此,其正确诊断和相应的最佳治疗管理识别仍然具有挑战性。
    方法:在过去的10年里,300名患者在我们的卒中中心接受了明确的SIH诊断。通过对数据库的全面审查,我们确定了所有患有SIH相关CVT的患者.此外,我们进行了系统的文献综述,包括SIH相关CVT的所有出版物.
    结果:我们的300例SIH患者中有5例表现为CVT(F/M:2/3,平均年龄:51.8±15.7)。通过文献检索,确定了另外72例病例。总的来说,患病率为1.3%,主要临床表现为体位性头痛,恶心,和呕吐。CVT主要位于上矢状窦。治疗策略包括抗凝剂(ACs)(43%),硬膜外血贴片(EBP)(19.4%),和综合AC+EBP(33.3%)。在我们的队列中,除1例患者外,所有患者均接受联合EBP和AC治疗.平均临床和放射学随访2年和1.5年,分别。据报道,96%的病例临床完全康复,而56%的患者表现出完整的放射性CVT分辨率。在没有放射学分辨率的患者中(26.4%),57%只收到AC,43%接受了AC+EBP联合治疗。在我们的五个案例中,除1例患者外,所有患者均接受AC+EBP联合治疗.
    结论:SIH相关CVT的总患病率为1.3%。AC和联合AC+EBP是最常用的治疗管理策略。在组合策略之后,CVT分辨率更常见。总的来说,临床完全恢复率为96%。
    BACKGROUND: Cerebral venous thrombosis (CVT) is a rare complication of spontaneous intracranial hypotension (SIH). Therefore, its correct diagnosis and the corresponding optimal treatment-management identification remains challenging.
    METHODS: Over the last 10 years, 300 patients received a definite SIH diagnosis at our stroke center. Through thorough review of the database, we identified all patients with SIH-related CVT. In addition, we performed a systematic literature review including all publications on SIH-related CVT.
    RESULTS: Five out of our 300 SIH patients showed CVT (F/M:2/3, mean age: 51.8 ± 15.7). Through the literature search, 72 additional cases were identified. Overall, the prevalence was 1.3% and main clinical presentations were orthostatic headache, nausea, and vomiting. The CVT was predominantly located at the superior sagittal sinus. Treatment strategies included anticoagulants (ACs) (43%), epidural blood patch (EBP) (19.4%), and combined AC + EBP (33.3%). In our cohort, all but one patient received combined EBP and AC. The mean clinical and radiological follow-up were 2 years and 1.5 years, respectively. Complete clinical recovery was reported in 96% of the cases, whereas 56% showed complete radiological CVT resolution. Among patients without radiological resolution (26.4%), 57% received AC-only, while 43% received combined AC + EBP. Of our five cases, all but one patient received combined AC + EBP.
    CONCLUSIONS: The overall prevalence of SIH-related CVT was 1.3%. AC and combined AC + EBP were the most used treatment-management strategies. CVT resolution was more commonly achieved after the combined strategy. Overall, the rate of complete clinical recovery was 96%.
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  • 文章类型: Journal Article
    炎症在脑静脉血栓形成(CVT)的发生和发展中至关重要。在这里,我们旨在评估巴曲酶联合抗凝治疗CVT的抗炎作用.参与者分为巴曲酶组(巴曲酶联合抗凝)和对照组(仅抗凝)。采用回归分析探讨巴曲酶给药次数与炎症指标波动之间的关系。以及使用巴曲酶后炎症指标降低的患者比例。23例(年龄:39.9±13.8岁,女性:39.1%),巴曲酶组36例(40.3±9.6岁,52.8%)在对照组中进行了分析。与对照组相比,巴曲酶联合抗凝显著降低纤维蛋白原(P<.001),血小板淋巴细胞比率(PLR)(P=0.016)和全身免疫炎症指数(SII)(P=0.008),纤维蛋白原降低患者的比例增加(P<0.001),中性粒细胞-淋巴细胞比值(NLR)(P=0.005),PLR(P=.026),和SII(P=.006)。线性分析表明,随着巴曲酶给药次数的增加,纤维蛋白原(P<.001),PLR(P=.001),SII(P=0.020)显著下降。Logistic回归分析显示,随着巴曲酶给药次数的增加,NLR(P=0.008)和PLR(P=0.015)降低的患者比例,以及SII(P=.013),显著增加。巴曲酶可以降低NLR,PLR,和CVT中的SII。效果与巴曲酶给药的发作次数有关。除了降低纤维蛋白原和间接溶栓作用,这可能是巴曲酶对CVT的另一个重要好处。
    Inflammation is pivotal in the pathogenesis and development of cerebral venous thrombosis (CVT). Herein, we aimed to assess the anti-inflammatory effects of batroxobin combined with anticoagulation in CVT. Participants were categorized into the batroxobin group (batroxobin combined with anticoagulation) and the control group (anticoagulation only). Regression analysis was employed to explore the association between the number of episodes of batroxobin administration and the fluctuation of inflammatory indicators, as well as the proportion of patients with inflammatory indicators that were reduced after batroxobin use. Twenty-three cases (age: 39.9 ± 13.8 years, female: 39.1%) in the batroxobin group and 36 cases (40.3 ± 9.6 years, 52.8%) in the control group were analyzed. Compared to the control group, batroxobin combined with anticoagulation significantly decreased fibrinogen (P < .001), platelet-lymphocyte ratio (PLR) (P = .016) and systemic immune-inflammation index (SII) (P = .008), and increased the proportion of the patients with lower fibrinogen (P < .001), neutrophil-lymphocyte ratio (NLR) (P = .005), PLR (P = .026), and SII (P = .006). Linear analysis showed that as the number of episodes of batroxobin administration increased, the fibrinogen (P < .001), the PLR (P = .001), and the SII (P = .020) significantly decreased. Logistic regression analysis showed as the number of episodes of batroxobin administration increased, the ratio of the patients with decreased NLR (P = .008) and PLR (P = .015), as well as SII (P = .013), significantly increased. Batroxobin could decrease NLR, PLR, and SII in CVT. The effect was related to the number of episodes of batroxobin administration. Besides reducing fibrinogen and indirect thrombolysis effects, this may be another critical benefit of batroxobin for CVT.
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  • 文章类型: Journal Article
    传统上认为在印度缺席,最近在少数印度患者中报道了凝血酶原基因G20210A(NM_000506.5(F2):c.*97G>A)突变(PGM)。我们旨在评估印度北部地区发生血栓栓塞事件的患者中PGM的患病率。包括蛋白C的血栓形成倾向检查,蛋白S,抗凝血酶功能活性,狼疮抗凝和抗ACA和抗-β2GP1抗体在凝血分析仪(ACLTOP-500,仪器实验室,美国)和自动化学发光测定分析仪(ACUSTAR,IL)分别。使用PCR-RFLP进行PGM和FVL突变。509名患者中,DVT和CVT/CSVT分别在208例和250例患者中被确定。共有42例(8.2%)表现出遗传性血栓形成倾向,11例(2.1%)获得性血栓形成倾向。在继承的缺陷中,最常见的是FVL突变31(6%)PGM仅见于2/509(0.3%)患者.北印度DVT患者中PGM的患病率,冲程和CVT为0.41%(2/509)。虽然PGM在这个人群中很少见,它的存在强调了它与这些条件的联系。然而,由于北印度人的稀缺性,PGM测试的作用仍然存在争议。
    在线版本包含补充材料,可在10.1007/s12288-024-01741-x获得。
    Traditionally considered to be absent in India, prothrombin gene G20210A (NM_000506.5(F2): c.*97G > A) mutation (PGM) has recently been reported in few Indian patients. We aimed to assess the prevalence of PGM in patients with thromboembolic events from north India region. The thrombophilia workup comprising Protein C, Protein S, Antithrombin functional activity, lupus anticoagulant and anti-ACA and anti-ß2GP1 antibodies were performed in coagulation analyzer (ACLTOP-500, Instrumentation Laboratory, USA) and automated chemiluminescent assay analyzer (ACUSTAR, IL) respectively. PCR-RFLP was used to perform PGM and FVL mutation. Out of 509 patients, DVT and CVT/CSVT were identified in 208 and 250 patients respectively. A total of 42 (8.2%) cases showed inherited thrombophilia and 11 (2.1%) acquired thrombophilia. Among the inherited defects, the most common was FVL mutation 31 (6%) The PGM was seen in only 2/509 (0.3%) patients. The prevalence of PGM in North Indian patients with DVT, stroke and CVT is 0.41% (2/509). Although PGM is rare in this population, its presence emphasizes its association with these conditions. However, the role of PGM testing remains debatable due to its scarcity among North Indians.
    UNASSIGNED: The online version contains supplementary material available at 10.1007/s12288-024-01741-x.
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  • 文章类型: Journal Article
    风险预测模型通常通过逻辑回归分析来执行,但受到偏斜数据集的限制。由于复杂数据集的逻辑回归(LR)分析的局限性,我们利用神经网络(NN)模型来识别脑静脉血栓形成(CVT)不良结局的独立预测因子。
    我们从前瞻性BEAST(建立静脉血栓形成病因的生物栓剂)研究中评估了1309名成年CVT患者。接收器工作特性(AUROC)曲线下的面积证实了预测模型的拟合优度。神经网络的归一化重要性(NI)决定了独立预测因子的重要性。
    逐步逻辑回归模型发现溶栓(OR32.1;95%CI3.6-287.0;P=0.002),开颅手术(OR6.9;95%CI1.3-36.8;P=0.02),和脑出血(OR4.5;95%CI1.3-15.4;P=0.01)作为不良临床结局的预测因子,AUROC为0.71。相反,神经网络模型确定了长期不良临床结局的主要独立预测因素,如脑出血(NI100%)和溶栓(NI98%),以及年龄(NI2.8%)和精神状态改变(NI3.5%)的微不足道的预测因子。在AUROC为0.82的情况下,自学习随机选择的训练和测试样本的NN模型的准确率为95.1%和94.1%。LR模型对不良结局的阳性和阴性预测值分别为13.2%和97.1%,与神经网络模型的18.8%和98.7%相比,分别。
    脑出血和溶栓是一个强有力的独立预测因子,而年龄仅影响成人CVT的长期不良临床结局。集成非正统神经网络风险预测模型可以改善决策,因为它优于传统的复杂数据集的逻辑回归。
    UNASSIGNED: Risk prediction models are commonly performed with logistic regression analysis but are limited by skewed datasets. We utilised neural networks (NNs) model to identify independent predictors of poor outcomes in cerebral venous thrombosis (CVT) due to the limitations of logistic regression (LR) analysis with complex datasets.
    UNASSIGNED: We evaluated 1309 adult CVT patients from the prospective BEAST (Biorepository to Establish the Aetiology of Sinovenous Thrombosis) study. The area under the receiver operating characteristic (AUROC) curve confirmed the goodness-of-fit of prediction models. The normalised importance (NI) of the NNs determines the significance of independent predictors.
    UNASSIGNED: The stepwise logistic regression model found thrombolysis (OR 32.1; 95% CI 3.6-287.0; P=0.002), craniotomy (OR 6.9; 95% CI 1.3-36.8; P=0.02), and cerebral haemorrhage (OR 4.5; 95% CI 1.3-15.4; P=0.01) as predictors of poor clinical outcome with the AUROC of 0.71. Conversely, the NNs model identified major independent predictors of long-term poor clinical outcomes as cerebral haemorrhage (NI 100%) and thrombolysis (NI 98%), as well as trivial predictors of age (NI 2.8%) and altered mental status (NI 3.5%). The accuracy of the NNs model was 95.1% and 94.1% for self-learned randomly selected training and testing samples with an AUROC of 0.82. Positive and negative predictive values for poor outcomes were 13.2% and 97.1% for the LR model, compared with the NNs model of 18.8% and 98.7%, respectively.
    UNASSIGNED: Cerebral haemorrhage and thrombolysis was a strong independent predictor, whereas age merely impacts the long-term poor clinical outcome in adult CVT. Integrating unorthodox neural networks risk prediction model can improve decision-making as it outperforms conventional logistic regression with complex datasets.
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  • 文章类型: Journal Article
    目的:由于病程和症状的变异性,脑静脉血栓形成(CVT)对诊断提出了挑战。CVT的预后依赖于早期诊断。我们的研究重点是使用来自伊朗南部大型神经病学转诊中心的临床数据开发基于机器学习的筛查算法。
    方法:伊朗脑静脉血栓登记(ICVTR代码:9001013381)提供了来自纳马齐医院的382例CVT病例的数据。对照组包括经神经影像学证实的无CVT的成年头痛患者,并从同一医院收治的患者中回顾性选择。我们收集了60个临床和人口统计学特征用于模型开发和验证。我们的建模流程涉及估算缺失值和评估四种机器学习算法:广义线性模型,随机森林,支持向量机,和极端梯度提升。
    结果:共纳入314例CVT病例和575例对照。当使用插补来估计所有变量的缺失值时,达到了最高的AUROC,结合支持向量机模型(AUROC=0.910,Recall=0.73,Precision=0.88)。当仅包括缺失率小于50%的变量时,通过支持向量机模型也实现了最佳召回(AUROC=0.887,召回=0.77,精度=0.86)。通过使用缺失率小于50%的变量(AUROC=0.882,Recall=0.61,Precision=0.94),随机森林模型产生了最佳精度。
    结论:使用临床数据的机器学习技术的应用在我们研究人群中准确诊断CVT方面显示出了有希望的结果。这种方法提供了一个有价值的补充辅助工具或替代资源密集型成像方法。
    OBJECTIVE: Cerebral Venous Thrombosis (CVT) poses diagnostic challenges due to the variability in disease course and symptoms. The prognosis of CVT relies on early diagnosis. Our study focuses on developing a machine learning-based screening algorithm using clinical data from a large neurology referral center in southern Iran.
    METHODS: The Iran Cerebral Venous Thrombosis Registry (ICVTR code: 9001013381) provided data on 382 CVT cases from Namazi Hospital. The control group comprised of adult headache patients without CVT as confirmed by neuroimaging and was retrospectively selected from those admitted to the same hospital. We collected 60 clinical and demographic features for model development and validation. Our modeling pipeline involved imputing missing values and evaluating four machine learning algorithms: generalized linear model, random forest, support vector machine, and extreme gradient boosting.
    RESULTS: A total of 314 CVT cases and 575 controls were included. The highest AUROC was reached when imputation was used to estimate missing values for all the variables, combined with the support vector machine model (AUROC = 0.910, Recall = 0.73, Precision = 0.88). The best recall was achieved also by the support vector machine model when only variables with less than 50 % missing rate were included (AUROC = 0.887, Recall = 0.77, Precision = 0.86). The random forest model yielded the best precision by using variables with less than 50 % missing rate (AUROC = 0.882, Recall = 0.61, Precision = 0.94).
    CONCLUSIONS: The application of machine learning techniques using clinical data showed promising results in accurately diagnosing CVT within our study population. This approach offers a valuable complementary assistive tool or an alternative to resource-intensive imaging methods.
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  • 文章类型: Case Reports
    虽然罕见,脑静脉窦血栓形成(CVT)可导致严重的神经系统并发症,特别是在分娩后。由于症状与其他病症重叠,早期诊断提出了挑战。在发展中国家,CVT的出版物有限和诊断不足很普遍,尤其是在埃塞俄比亚。
    一位29岁的母亲,生了四次孩子,在产后第二个月向急诊科提出持续头痛和视力模糊的投诉。此外,她报告说她的右侧突然虚弱了一天。尽管以前治疗过偏头痛,在磁共振成像/静脉造影显示右吻合静脉和上矢状窦后段阻塞后,她被诊断为CVT.从抗凝血依诺肝素开始治疗。住院期间,她经历了一次全身性癫痫发作,导致转移到加有苯妥英的重症监护室。随后诊断为乳头水肿。住院16天后,她服用华法林出院了,苯妥英,还有乙酰唑胺.口服抗凝和其他药物治疗六个月后停止,考虑到产后是CVT的临时危险因素。患者目前保持良好的健康,并已恢复正常活动。
    在产后期间保持对CVT的高度怀疑并及时进行影像学扫描对于早期诊断至关重要。这种方法可以通过早期治疗干预来阻止神经系统衰退并促进立即恢复。
    UNASSIGNED: Although rare, cerebral venous sinus thrombosis (CVT) can result in significant neurological complications, particularly after childbirth. Early diagnosis poses a challenge due to symptom overlap with other conditions. Limited publications and underdiagnosis of CVT are prevalent in developing nations, notably in Ethiopia.
    UNASSIGNED: A 29-year-old mother, having given birth four times, presented to the emergency department in her second month postpartum with complaints of persistent headaches and blurred vision over three weeks. Additionally, she reported sudden weakness on her right side for one day. Despite previous treatments for migraine headaches, she was diagnosed with CVT after magnetic resonance imaging/venography revealed blockage in the right anastomotic vein and the posterior segment of the superior sagittal sinus. Treatment commenced with the anticoagulant enoxaparin. During hospitalization, she experienced one episode of generalized seizures, leading to transfer to the intensive care unit where phenytoin was added. Subsequent diagnosis of papilledema occurred. After a 16-day hospital stay, she was discharged with warfarin, phenytoin, and acetazolamide. Oral anticoagulation and other medications ceased after six months of treatment, considering the postpartum period as a temporary risk factor for CVT. The patient currently maintains good health and has resumed normal activities.
    UNASSIGNED: Maintaining a high index of suspicion for CVT during the postpartum period and promptly conducting imaging scans are crucial for early diagnosis. This approach can halt neurological decline and facilitate immediate recovery through early therapeutic interventions.
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  • 文章类型: Journal Article
    背景:大约13-25%的脑静脉血栓形成(CVT)病例缺乏明确的病因,这可能与潜在的遗传因素有关。本研究旨在使用全外显子组测序(WES)研究CVT患者的遗传因素。
    方法:38例CVT住院患者行WES。977名受试者的WES数据来自社区队列研究-顺义队列作为对照组。利用生物信息学分析,筛选出两组间具有罕见损伤变异的差异基因(P<0.05)。对筛选的基因进行KEGG富集分析以鉴定与CVT相关的途径。
    结果:通过分析病史,常规测试,和影像学检查,38例患者的病因:抗磷脂综合征8例,6例血液病,3例蛋白C缺乏症,蛋白S缺乏2例。5例发生在孕期或产褥期,3例有口服避孕药史,等等。12例(31.6%)病因不明,通过WES:F9c.838+1_838+16del进一步阐明了4例患者的病因,半合子:F9EX1-EX7Dup;CBSc.430G>A,CBSc.949A>G;F2c.1787G>A;SERPINC1c.409-11G>T。比较两组的WES数据,共筛选了179个具有罕见损伤变异的不同基因(P<0.05),具有5个感兴趣的基因(JAK2,C3,PROC,PROZ,SERPIND1).对179个不同基因的富集分析表明,补体和凝血途径以及丝裂原活化蛋白激酶(MAPK)途径与CVT相关。
    结论:对于病因不明的CVT患者,WES可以帮助及早确定CVT的原因,这对治疗决策和预后具有重要意义。除了补体和凝血途径,MAPK通路与CVT有关,可能与血小板调节和炎症反应有关。
    BACKGROUND: About 13-25% of cerebral venous thrombosis (CVT) cases lack clear etiology, which may be associated with underlying genetic factors. This study aims to investigate genetic factors in CVT patients using whole exome sequencing (WES).
    METHODS: Thirty-eight CVT patients hospitalized underwent WES. 977 subjects with WES data from a community cohort study --the Shunyi cohort were as the control group. Using bioinformatics analysis, differential genes with rare damaging variants between two groups were filtered (P < 0.05). KEGG enrichment analysis was performed on the screened genes to identify pathways associated with CVT.
    RESULTS: Through analysis of medical history, routine tests, and imaging examinations, the etiology of 38 patients: 8 cases of antiphospholipid syndrome, 6 cases with hematologic diseases, 3 cases of protein C deficiency, and 2 cases of protein S deficiency. Five cases occurred during pregnancy or puerperium, and 3 cases had a history of oral contraceptive use, and so on. The etiology was unknown in 12 cases (31.6%), and the etiology of 4 patients were further clarified through WES: F9 c.838 + 1_838 + 16del, Hemizygote: F9 EX1-EX7 Dup; CBS c.430G > A, CBS c.949 A > G; F2 c.1787G > A; SERPINC1 c.409-11G > T. Comparing the WES data of two groups, a total of 179 different genes with rare damaging variants were screened (P < 0.05), with 5 genes of interest (JAK2, C3, PROC, PROZ, SERPIND1). Enrichment analysis of the 179 different genes revealed the complement and coagulation pathway and the mitogen activated protein kinases (MAPK) pathway were associated with CVT.
    CONCLUSIONS: For CVT patients with unknown etiology, WES could help identify the cause of CVT early, which is of great significance for treatment decisions and prognosis. In addition to the complement and coagulation pathway, MAPK pathway is associated with CVT, potentially related to platelet regulation and inflammatory response.
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