Moyamoya disease (MMD) is a chronic and progressive cerebrovascular disease which is characterized by the bilateral internal carotid artery ends and (or) stenosis or occlusion of anterior cerebral artery and middle cerebral artery initial segments,compensatory proliferation of small blood vessels in the skull base and formation of abnormal vascular network.Its etiology and pathogenesis remains unclear.The present studies speculate that MMD may be a polygenic disease,inflammation,immune response,abnormal cytokine secretion,endothelial progenitor cell change and nitric oxide level change are associated with the occurrence and development of MMD.This article reviews the advances in research on the genetics and pathophysiological mechanism of MMD.

Objective:To compare the clinical effects of direct mechanical thrombectomy (MT) and intravenous thrombolysis (IVT) bridging MT (IVT+ MT) in the treatment of patients with acute anterior circulation large vessel occlusive stroke with high clot burden.Methods:Consecutive patients with acute anterior circulation large vessel occlusion with clot burden score ≤6 admitted to the Department of Neurology, Liuzhou People's Hospital and received endovascular treatment (MT or IVT+ MT) from June 2015 to April 2019 were enrolled retrospectively. The baseline clinical data, surgical status, clinical outcome, length of stay and cost of hospitalization in the direct MT group and the IVT+ MT group were compared. The modified Rankin Scale was used to evaluate the outcomes at 90 d after the onset of stroke. 0-2 was defined as a good outcome and >2 was defined as a poor outcome. Multivariate logistic regression analysis was used to identify the independent influencing factors of poor outcomes. Results:A total of 115 patients with acute anterior circulation large vascular occlusive stroke with high clot burden were enrolled, aged 65.4±12.0 years, 70 (60.9%) were male. The baseline National Institutes of Health Stroke Scale (NIHSS) score was 18.0 (14.0-22.0). Seventy patients (60.9%) in the direct MT group, 45 in the IVT+ MT group (39.1%). Forty-nine patients (42.6%) had a good outcome and 66 (57.4%) had a poor outcome. The time from onset to inguinal puncture (210 [130-255] min vs. 230 [187-268] min; Z=-1.982, P=0.047) and the time from onset to successful vascular recanalization (283 [228-358] min vs. 320 [268-385] min; Z=-2.017, P=0.044) were significantly shorter than the IVT+ MT group, but there were no significant differences in the successful recanalization rate (84.4% vs. 81.4%; χ2=0.173, P=0.677), the incidence of postoperative symptomatic intracranial hemorrhage (6.7% vs. 7.1%; P=1.000) and the good outcome rate at 90 d (40.0% vs. 44.3%; χ2=0.206, P=0.650) between the direct MT group and the IVT+ MT group. In addition, although there was no significant difference in length of stay between the two groups (12.1±7.1 d vs. 10.6±6.6 d; t=1.128, P=0.262), the total hospitalization cost of the direct MT group was significantly lower than that of the IVT+ MT group (80 328 [63 214-101 136] CNY vs. 88 517 [68 001-115 590] CNY; Z=-1.972, P=0.049). Multivariate logistic regression analysis showed that higher baseline systolic blood pressure (odds ratio [ OR] 1.033, 95% confidence interval [ CI] 1.005-1.062; P=0.019), higher baseline NIHSS score ( OR 1.117, 95% CI 1.029-1.213; P=0.008) and lower baseline Alberta Stroke Program Early CT Score ( OR 0.189, 95% CI 0.056-0.641; P=0.008) were independently associated with the poor outcomes, while there was no independent correlation between the endovascular treatment mode and the outcomes. Conclusions:For patients with anterior circulation large vessel occlusive stroke with high clot burden, the successful recanalization rate and good clinical outcome rate of direct MT were equivalent to IVT+ MT, but the cost was less. Therefore, direct MT may be a better choice for the treatment of anterior circulation large vessel occlusive stroke with high clot burden.