共查询到6条相似文献,搜索用时 0 毫秒
1.
目的:探讨短暂性脑缺血发作(transient ischemia attach,TIA)患者血脂水平对预后的影响及其临床意义。方法:回顾性分析以2009年最新定义为诊断标准的我院TIA患者62例,根据ABCD2评分进行危险分级。其中,低危组(0--3分)患者16例、中危组(4~5分)患者20例,高危组(6~7分)患者26例,比较三组患者血脂水平的差异及其预后效果的影响。结果:三组患者中血脂水平从高到低依次为:高危组、中危组与低危组,其中高危组血脂水平与其它两组患者血脂水平的差异均有统计学意义(P〈0.05),但中危组与低危组间差异无统计学意义(P〉0.05)。低、中危组患者血脂平均水平随ABCD2分值增高呈轻度上升趋势,高危组患者血脂平均水平随ABCD2分值明显增高。血脂水平越高其预后效果相对越差。结论:血脂水平与TIA患者ABCD2评分呈正相关的趋势,而与预后效果呈负相关的趋势。 相似文献
2.
王淼霞陈钢周文胜杨剑文 《现代生物医学进展》2011,11(11):2138-2140
目的:探讨短暂性脑缺血发作(transient ischemia attach,TIA)患者血脂水平对预后的影响及其临床意义。方法:回顾性分析以2009年最新定义为诊断标准的我院TIA患者62例,根据ABCD2评分进行危险分级。其中,低危组(0~3分)患者16例、中危组(4~5分)患者20例,高危组(6~7分)患者26例,比较三组患者血脂水平的差异及其预后效果的影响。结果:三组患者中血脂水平从高到低依次为:高危组、中危组与低危组,其中高危组血脂水平与其它两组患者血脂水平的差异均有统计学意义(P<0.05),但中危组与低危组间差异无统计学意义(P>0.05)。低、中危组患者血脂平均水平随ABCD2分值增高呈轻度上升趋势,高危组患者血脂平均水平随ABCD2分值明显增高。血脂水平越高其预后效果相对越差。结论:血脂水平与TIA患者ABCD2评分呈正相关的趋势,而与预后效果呈负相关的趋势。 相似文献
3.
Christoph Wiesinger Markus Kunze Günther Regelsberger Sonja Forss-Petter Johannes Berger 《The Journal of biological chemistry》2013,288(26):19269-19279
X-linked adrenoleukodystrophy (X-ALD), an inherited peroxisomal disorder, is caused by mutations in the ABCD1 gene encoding the peroxisomal ATP-binding cassette (ABC) transporter ABCD1 (adrenoleukodystrophy protein, ALDP). Biochemically, X-ALD is characterized by an accumulation of very long-chain fatty acids and partially impaired peroxisomal β-oxidation. In this study, we used primary human fibroblasts from X-ALD and Zellweger syndrome patients to investigate the peroxisomal β-oxidation defect. Our results show that the degradation of C26:0-CoA esters is as severely impaired as degradation of unesterified very long-chain fatty acids in X-ALD and is abolished in Zellweger syndrome. Interestingly, the β-oxidation rates for both C26:0-CoA and C22:0-CoA were similarly affected, although C22:0 does not accumulate in patient fibroblasts. Furthermore, we show that the β-oxidation defect in X-ALD is directly caused by ABCD1 dysfunction as blocking ABCD1 function with a specific antibody reduced β-oxidation to levels observed in X-ALD fibroblasts. By quantification of mRNA and protein levels of the peroxisomal ABC transporters and by blocking with specific antibodies, we found that residual β-oxidation activity toward C26:0-CoA in X-ALD fibroblasts is mediated by ABCD3, although the efficacy of ABCD3 appeared to be much lower than that of ABCD1. Finally, using isolated peroxisomes, we show that β-oxidation of C26:0-CoA is independent of additional CoA but requires a cytosolic factor of >10-kDa molecular mass that is resistant to N-ethylmaleimide and heat inactivation. In conclusion, our findings in human cells suggest that, in contrast to yeast cells, very long-chain acyl-CoA esters are transported into peroxisomes by ABCD1 independently of additional synthetase activity. 相似文献
4.
Over the last decade, the genetic basis for CBAVD has been identified by its association with CFTR gene mutations, and CBAVD is now generally considered to be a mild or incomplete form of CF. In this review, the author summarizes the main results of compilation of CFTR gene analysis conducted in French laboratories for 3,923 patients with CF and 800 males with CABVD. The degree of clinical expression can be affected by several variables, including the molecular mechanisms by which the various CFTR mutations impair or disrupt the function of the CFTR chloride channel. Phenotypic expression of CFTR mutational genotypes varies from severe, progressive pulmonary disease with pancreatic insufficiency (CF-PI), to mild pulmonary disease with pancreatic sufficiency (PS) or singleorgan forms of “CFTR-opathies”. In CF, a total of 310 different CFTR mutations accounting for 94% of 7,846 CF alleles have generated almost 500 different genotypes, comprising 2 severe mutations in 88% of cases (CF-PI), one severe mutation in trans to a mild mutation in 11% (CF-PS), and 2 mild mutations in 1% of identified genotypes. In CBAVD, 137 mutations scattered over the whole gene were identified in 60% of 1,600 CBAVD alleles during the study. Among the 150 characterized mutational CFTR genotypes, compound heterozygosity was the rule, and the most frequent CBAVD combinations were ΔF508/5T (35%), ΔF508/other mutation (30%, including ΔF508/R117H-7T: 5,6%), and 5T/other mutation (17%). No combination of two severe mutations was found in CBAVD (0%); by contrast with the CF population, 88% of genotypes identified in CBAVD comprised a severe mutation in trans to a mild mutation, and 12% consisted of 2 mild mutations. A total of 22 genotypes were shared by both CF and CBAVD. The role of the 5T allele as a splicing variant with variable, incomplete disease penetrance in CBAVD is reviewed. Other haplotype backgrounds, such as the TG12 sequence and the M470V polymorphism, may influence CFTR splicing and/or function. This study confirms the high molecular heterogeneity of CFTR mutations in CBAVD and emphasizes the importance of extensive CFTR analysis in these patients. Longterm follow-up studies of CBAVD patients are necessary in order to predict the phenotypic consequences of numerous CFTR mutational genotypes. 相似文献
5.
摘要 目的:分析磁共振血管成像(MAR)联合ABCD3-Ⅰ评分对短暂性脑缺血发作(TIA)后继发脑梗死风险的预测价值。方法:选取本院87例TIA患者,均行MAR检查及ABCD3-Ⅰ评分,随访90 d内继发脑梗死情况,分为继发脑梗死组与无脑梗死组,比较2组临床资料、MAR检查结果及ABCD3-Ⅰ评分,采用受试者工作特征曲线(ROC)分析MAR联合ABCD3-Ⅰ评分对脑梗死预测价值。结果:继发脑梗死组与无脑梗死组性别、年龄、BMI、吸烟史、饮酒史、糖尿病、高血压、房颤、高脂血症情况比较无统计学意义(P>0.05); 继发脑梗死组中度狭窄与严重狭窄-闭塞占比、ABCD3-Ⅰ评分高危占比高于无脑梗死组(P均<0.001);MAR检查、ABCD3-Ⅰ评分及二者联合预测曲线下面积(AUC)分别为0.863、0.827、0.942,联合预测具有较高预测效能,敏感度为100%,特异度为74.2%。结论:MAR联合ABCD3-Ⅰ评分对TIA后继发脑梗死具有较高预测效能,能够用于脑梗死的风险评估。 相似文献
6.
Maaike G. J. Gademan Marloes Vermeulen Adri?tte J. J. M. Oostvogels Tessa J. Roseboom Tommy L. S. Visscher Manon van Eijsden Marcel T. B. Twickler Tanja G. M. Vrijkotte 《PloS one》2014,9(4)