In recent years,two important component proteins of the calcium release-activated calcium channel (CRAC) were identified fromDrosophila cells by RNA interference technique,including the calcitum sensor stromal interaction molecule 1 (STIM1) on the endoplasmic reticulum and the CRAC channel protein Orail on the cell membrane.Studies have shown that STIM 1 and Orail have regulatory effects on vascular smooth muscle cells,platelets,vascular endothelial cells and other cells.They play important roles in the aspects of vascular smooth muscle cell phenotypic modulation,hemostasis,thrombosis,and neovascularization.It shows that they both may be closely associated with ischemic cerebrovascular disease.This article reviews the advances in research on STIM1 and Orail proteins in ischemic cerebrovascular disease in order to investigate the possibility of STIM1/Orai1 as a new target in the prevention andtreatment of ischemic cerebrovascular

Acute ischemic stroke has already become common cause of death in our country.Until now,the intravenous thrombolysis therapy produces a limited therapeutic efficacy in patients with acute ischemic stroke,because the recanalization rate is very low in patients with large vessel occlusion,especially with interal carotid artery occlusion.As a novel modality of primary treatment,endovascular mechanical recanalization using clot removal has become a noticeably efficient intervention and a hot research focus of acute ischemic stroke.In this paper,we reviewed recent large multicenter trials of endovascular mechanical recanalization in the world.

OBJECTIVETo analyze potential mutations of NOTCH3 gene in a Chinese family featuring cerebral autosomal dominant arteriopathy with subcortical infarct and leucoencephalopathy (CADASIL) in order to facilitate genetic counseling and prenatal diagnosis.

METHODSThe proband and related family members and 100 healthy controls were recruited. The NOTCH3 gene was screened for mutations by polymerase chain reaction and direct DNA sequencing. PolyPhen-2 and SIFT software were used to predict the protein function.

RESULTSThe proband and two affected individuals from the family were adult-onset, with main clinical manifestations including recurrent transient ischemic attacks and(or) strokes, cognitive impairment, memory decline, and depression. MRI findings suggested multiple cerebral infarcts and severe leukoencephalopathy. A novel heterozygous missense mutation c.3043T> A (p.Cys1015Ser) located in exon 19 of NOTCH3 gene was identified not only in the proband and two patients, but also in an asymptomatic relative from the family. The same mutation was detected in none of the 100 unrelated healthy controls. Function analysis suggested that this mutation can severely affect the functions of this protein. Multiple sequence alignment revealed that the mutation site was extremely conserved in various species.

CONCLUSIONA novel heterozygous Cys1015Ser mutations in exon 19 of the NOTCH3 gene probably underlies the CADASIL in this family.

Adult ; Aged ; Amino Acid Sequence ; Base Sequence ; CADASIL ; complications ; genetics ; DNA Mutational Analysis ; Exons ; genetics ; Family Health ; Female ; Heterozygote ; Humans ; Male ; Middle Aged ; Molecular Sequence Data ; Mutation, Missense ; Pedigree ; Polymerase Chain Reaction ; Receptor, Notch3 ; Receptors, Notch ; genetics ; Sequence Homology, Amino Acid

Background: and Purpose The optimal management of patients with acute basilar artery occlusion (BAO) is uncertain. We aimed to evaluate the safety and efficacy of endovascular thrombectomy (EVT) compared to medical management (MM) for acute BAO through a meta-analysis of randomized controlled trials (RCTs). Methods: We performed a systematic review and meta-analysis of RCTs of patients with acute BAO. We analyzed the pooled effect of EVT compared to MM on the primary outcome (modified Rankin Scale [mRS] of 0–3 at 3 months), secondary outcome (mRS 0–2 at 3 months), symptomatic intracranial hemorrhage (sICH), and 3-month mortality rates. For each study, effect sizes were computed as odds ratios (ORs) with random effects and Mantel-Haenszel weighting. Results: Four RCTs met inclusion criteria including 988 patients. There were higher odds of mRS of 0-3 at 90 days in the EVT versus MM group (45.1% vs. 29.1%, OR 1.99, 95% confidence interval [CI] 1.04–3.80; P=0.04). Patients receiving EVT had a higher sICH compared to MM (5.4% vs. 0.8%, OR 7.89, 95% CI 4.10–15.19; P<0.01). Mortality was lower in the EVT group (35.5% vs. 45.1%, OR 0.64, 95% CI 0.42–0.99; P=0.05). In an analysis of two trials with BAO patients and National Institutes of Health Stroke Scale (NIHSS) <10, there was no difference in 90-day outcomes between EVT versus MM. Conclusion In this systematic review and meta-analysis, EVT was associated with favorable outcome and decreased mortality in patients with BAO up to 24 hours from stroke symptoms compared to MM. The treatment effect in BAO patients with NIHSS <10 was less certain. Further studies are of interest to evaluate the efficacy of EVT in basilar occlusion patients with milder symptoms.