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Objective: To investigate the diagnostic efficiency of truncal-type occlusion and branching-site occlusion in determining the etiology of intracranial large artery occlusion related acute ischemic stroke (AIS). Methods: Patients with intracranial large artery occlusion related AIS who received stent retriever (SR) thrombectomy from November 2014 to June 2019 were included in the study. All patients underwent angiography before SR thrombectomy, which was used to evaluate the occlusion type. Differences in the distribution of occlusion types in intracranial atherosclerosis (ICAS) and embolism were assessed, and the diagnostic indicators, including the area under the ROC curve (AUC), sensitivity, and specificity were calculated. Results: Of the 115 AIS patients with intracranial large artery occlusion, 42 were classified as having ICAS, and 73 having an embolism. In the ICAS group, branching-site occlusion was responsible for 3 (7%) cases and truncal-type occlusion for 39 (93%) cases, while in the embolism group, branching-site occlusion was responsible for 66 (90%) cases and truncal-type occlusion for 7 (10%) cases; the difference was statistically significant (all P < 0.01). The AUC for ICAS predicted by truncal-type occlusion was 0.916, with a sensitivity of 92.86%, and specificity of 90.41%. Conclusion: Truncal-type occlusion showed a high predictability of ICAS. Determine the etiology of intracranial large artery occlusion related AIS before SR thrombectomy may be most helpful in setting up optimal endovascular treatment strategies.
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Objective: To study the relationship between dilated cardiomyopathy and nuclear lamina protein (LMNA) gene mutation in Kazak ethnics at Xinjiang area. Methods: A Kazak familial dilated cardiomyopathy (FDCM) with 31 members was studied. In addition, 160 patients with idiopathic dilated cardiomyopathy (IDCM) with 160 healthy controls were enrolled in our study, and they were divided into 4 groups: IDCM-Kazak, IDCM-Han and Control-Kazak, Control-Han.n=80 in each group. Peripheral blood DNA were extracted, 12 exons with nearby introns of LMNA gene were detected by PCR and the ampliifed products were sequenced and compared with the standard template of CHROMAS and BLAST software to identify mutation sites. LMNA mutation in both Kazak and Han IDCM patients were investigated. Results: A novel LMNA mutation (insC, CGG→CCG) at exon 7 was identiifed in a FDCM proband, it caused an amino acid substitution as Arg to Pro, and a known LMNA polymorphism loci rs4641 (c.1362C>T His454His) was fund at exon 10. In addition, LMNA polymorphism loci rs4641 genotype distribution (χ2=5.16,P=0.036) and allele frequency (χ2=4.50,P=0.034) were statistically different between IDCM-Kazak group and Control-Kazak group; while such differences were no statistic meaning between IDCM-Han group and Control-Han group. Logistic regression analysis indicated that LMNA polymorphism loci rs4641 was related to IDCM occurrence in Kazak ethnics (P=0.025, OR=0.412, 95% CI 0.189-0.896). Conclusion: LMNA polymorphism loci rs4641 was related to IDCM in Kazak ethnics at Xinjiang area, which might be susceptible loci for IDCM occurrence.
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<p><b>OBJECTIVE</b>Detect the relationship between TPM1 gene mutations and dilated cardiomyopathy (DCM) of Kazaks and Hans in Xinjiang.</p><p><b>METHODS</b>TPM1 gene was screened from 31 family members in a Kazak family with familiar DCM (FDCM), 100 patients with idiopathic DCM (IDCM, 50 Kazaks and 50 Hans), and in 100 healthy controls (50 Kazaks and 50 Hans). All the samples were the inpatients or outpatients of First Affiliated Hospital of Xinjiang University from 2012 to 2014. PCR was used to amplify 9 exons and nearby introns of the TPM1 gene. The amplified products were sequenced and compared with the standard sequence with CHROMAS software and BLAST software in Pubmed to identify mutation sites. The relationship between TPM1 gene mutations in the Kazak IDCM and healthy volunteers, between Han and Kazak IDCM and healthy volunteers was analyzed. Tropomyosin was qualitatively and quantitatively detected by ELISA in all subjects.</p><p><b>RESULTS</b>A novel variant (c.524 G > T) was identified in two FDCM patients at exon 3, this mutation caused an amino acid substitution, Gln111His. The FDCM, IDCM from Kazak and Han, healthy volunteers from Kazak and Han were founded a rs1071646 (c.644C > A, Ala151Ala). There was a significant difference in the genotype distribution (χ(2) = 13.36, P = 0.001) and allele frequency (χ(2) = 10.25, P = 0.001) between Kazaks with IDCM and Kazak controls of rs1071646, while these parameters were similar between Han IDCM patients and Han controls (all P > 0.05). The tropomyosin content of Kazak and Han IDCM patients were significantly lower than Kazak and Han controls ((1 764.2 ± 350.9) ng/L vs. (2 369.7 ± 345.9) ng/L, P = 0.001).</p><p><b>CONCLUSION</b>TPM1 gene of rs1071646 polymorphism is a possible independent risk factor for IDCM in Kazaks but not Han Chinese.</p>
