Part1 Clinical characteristics of cerebral arteriovenous malformations in the Han population of southern China and Analysis of the safety and effectiveness with glubran2 interventional therapyObjective:BAVMs are not rare in clinical cerebrovascular disease.We collected the clinical data of BAVMs in the Han population of southern China and collected the management data of these BAVMs patients,so as to analyze the safety and effectiveness of glubran2 interventional therapy.Methods:The patients with BAVMs diagnosed by DSA/MRA/CTA in our hospital were included continuously.Glubran2 was used as the liquid embolic material for the interventional treatment of these BAVMs patients.The size,location,drainage vein and other data of the abnormal focus were evaluated again during the process of the endovascular interventional treatment.On this basis,the complete embolization rate and complication rate of interventional therapy and interventional therapy combined with stereotactic radiotherapy were compared.Age,gender,clinical symptoms(hemorrhage,epilepsy,headache)and other information were recorded with the consent of patients and their family members.Results:The study included 150 BAVMs patients,80 males and 70 females.The average age is 29.75 ± 14.99.Among them,36 cases were located in frontal lobe,29 in temporal lobe,20 in occipito parietal lobe,12 in periventricular region,14 in deep region,7 in brainstem and 32 in cerebellum.There were 34 cases with volume less than 3 cm3,90 cases with volume between 3-6 cm3,26 cases with volume more than 6cm3.There were 44 cases in the functional area and 41 cases with deep vein drainage.Spetzler Martin grade Ⅰ-Ⅴ were 14,65,45,15 and 11 cases respectively.All of the 150 BAVM patients were performed with embolization using Glubran2.64 cases were embolized only one time when 64 cases were embolized repeatly.In 96 cases of interventional treatment with Glubran 2,31 cases were completely embolized,and the number of Spetzler-Martin grade Ⅰ-Ⅴ cases was 5,14,9,2 and 1 respectively.The incidence of postoperative complications was 5.2%(5/96),of which 4 were bleeding related complications and 1 were ischemic related complications.Two patients recurred and no patient died.There were 54 cases were combined stereotactic radiotherapy after interventional embolization,37 cases were completely embolized,and the number of Spetzler Martin grade Ⅰ-Ⅴ cases was 3,14,12,3 and 5 respectively.Postoperative bleeding related complications were found in 2 cases There was a significant difference in the rate of complete occlusion between the two therapeutic strategies(P<0.001).The incidence of complications was within the range of domestic reports.There was no significant difference between the incidence of complications between the two therapeutic strategies.Conclusion:BAVMs are prone to young people,with no sex difference.They are mainly distributed in the frontal and temporal lobes and cerebellum,and Spetzler-Martin grades are mostly Ⅱ-Ⅲ.Glubran2 is a safe and effective embolization agent for the treatment of BAVMs with low Spetzler-Martin grade.Interventional embolization combined with stereotactic radiotherapy can achieve a higher cure rate of BAVMs.Part2 Study of the relationship between NOTCH4 single nucleotide polymorphism and brain arteriovenous malformation in the Han population of southern ChinaObjective:To explore whether Notch4 SNP is a possible risk factor for BAVMs in the Han population of southern China.Methods:150 patients with BAVM diagnosed by DSA(experimental group)and 150 normal blood donors at the same time(control group)were enrolled.DNA was extracted from peripheral blood,and 8 SNPs of Notch4 gene were typed by PCR-LDR:rs1109771、rs715299、rs443198、rs3134931、rs415929、rs436388、rs438475、rs915895.Using chi square test or Fisher exact test to verify the relationship between SNPs and BAVMs.Results:The genotypic frequencies of rs443198 and rs438475 were significantly different between the experimental group and the control group.rs443198_AA and rs438475_AA may be related to the lower occurrence risk of BAVMs(P=0.011,OR=0.459,95%CI 0.250-0.845;P=0.033,OR=2.611,95%CI 1.050-6.496).Statistical analysis of the allele frequencies of these two SNPs showed that rs443198 gene frequency between the two groups was statistically significant(P=0.031,OR=0.697,95%CI 0.503-0.968).And baseA of rs443198 may be a protective factor of BAVMs.Based on these two SNPs related to the occurrence of BAVMs,the relationship between them and the two common clinical symptoms of hemorrhage and epilepsy was analyzed.However,no significant relationship between these two SNPs and hemorrhage or epilepsy was found in all the three genetic models.Conclusion:Single nucleotide polymorphism of Notch4 gene may be a risk factor for BAVMs in the Han population of southern China. |