Study of apolipoprotein E genetic polymorphism in patients with atherosclerotic cerebral infarction

INTRODUCTIONAtheroscleroticCerebralInfarction (ACI)isoneofthemostcommoncerebralvasculardis easse.Itspathogenesishasnotyetbeencom pletelyexpounded ,althoughmoreandmorestudiesshowingthatgeneticfactorsmayplayanimportantrole ,especiallygeneticmutations.Lo cat…     

脑梗塞患者血中一氧化氮对血小板功能的影响

[目的]研究脑梗塞患者血中一氧化氮(NO)的含量与血小板功能之间的关系.[方法]将20例脑梗塞患者分别于发病急性期和稳定期采用硝酸还原酶法测血中NO含量;用光电比浊法和免疫荧光分析法分别测定血小板聚集率(PAgT)和血小板α-颗粒膜蛋白(GMP-140)水平;同时检测正常对照15例[结果]血清中NO含量在发病急性期较正常对照明显增高(P<0.01).同时,PAgT与正常对照有显著性差异(PADP<0.05,PADR<0.01);而血小板GMP-140在急性期和稳定期较正常对照均有显著性差异(P<0.01).[结论]脑梗塞发病急性期随着血中NO含量的增高,导致PAgT受抑,血小板GMP-140水平减低.     

小剂量尿激酶加法安明在脑梗塞早期的应用

目的 :研究小剂量尿激酶和法安明在脑梗塞早期应用的临床疗效。方法 :将 10 8例脑梗塞患者分为三组 ,分别采用小剂量尿激酶治疗 (简称尿激酶组 ) ;小剂量尿激酶加法安明治疗 (简称联合组 ) ;传统疗法 (简称对照组 )。治疗前后采用欧洲卒中评分法进行神经功能评分。结果 :治疗前各组分数无显著性差异 ,治疗后联合组 >尿激酶组 >对照组 ,差异均有显著性。联合组的卒中继续进展及再梗塞发生率明显降低。结论 :小剂量尿激酶与法安明联用能有效阻止血栓进展 ,减少再梗塞 ,有利于神经功能恢复 ,疗效显著而无明显副作用。     

Use of stochastic simulations to investigate the power and design of a whole genome association study using single nucleotide polymorphism arrays in farm animals

This paper presents a quick, easy to implement and versatile way of using stochastic simulations to investigate the power and design of using single nucleotide polymorphism (SNP) arrays for genome-wide association studies in farm animals. It illustrates the methodology by discussing a small example where 6 experimental designs are considered to analyse the same resource consisting of 6006 animals with pedigree and phenotypic records: (1) genotyping the 30 most widely used sires in the population and all of their progeny (515 animals in total), (2) genotyping the 100 most widely used sires in the population and all of their progeny (1102 animals in total), genotyping respectively (3) 515 and (4) 1102 animals selected randomly or genotyping respectively (5) 515 and (6) 1102 animals from the tails of the phenotypic distribution. Given the resource at hand, designs where the extreme animals are genotyped perform the best, followed by designs selecting animals at random. Designs where sires and their progeny are genotyped perform the worst, as even genotyping the 100 most widely used sires and their progeny is not as powerful of genotyping 515 extreme animals.     

Methylenetetrahydrofolate reductase C677T polymorphism predicts response and time to progression to gemcitabine-based chemotherapy for advanced non-small cell lung cancer in a Chinese Han population

Objective:The aim of this study was to evaluate the association between the methylenetetrahydrofolate reductase(MTHFR) C677T excision repair cross-complementation group 1(ERCC1) genetic polymorphisms and the clinical efficacy of gemcitabine-based chemotherapy in advanced non-small cell lung cancer(NSCLC).Methods:A total of 135 chemonaive patients with unresectable advanced NSCLC were treated with gemcitabine/platinum regimens.The polymorphisms of MTHFR C677T,ERCC1 C8092A,and ERCC1 C118T were genotyped using the TaqMan methods.Results:The overall response rate was 28.9%.Patients with MTHFR CC genotype had a higher rate of objective response than patients with variant genotype(TT or CT)(41.2% versus 19.1%,P=0.01).Median time to progression(TTP) of patients with MTHFR CC genotype was longer than that of patients with variant genotype(7.6 months versus 5.0 months,P=0.003).No significant associations were obtained between ERCC1 C118T and C8092A polymorphisms and both response and survival.Conclusions:Our data suggest the value of MTHFR C677T polymorphism as a possible predictive marker of response and TTP in advanced NSCLC patients treated with gemcitabine/platinum.     

急性脑梗塞患者粘附分子CD_(18)、CD_(54)表达的研究

[目的]探讨粘附分子CD18、CD54粘附功能及其表达变化与急性脑梗塞(ACI)关系.[方法]用流式细胞术检测88例ACI患者白细胞粘附分子CD18、CD54含量与脑梗塞发生时程、部位、面积及治疗前后表达。并与30例正常人作对照.[结果]ACI患者CD18、CD54表达明显增高,与正常对照组比较差异显著(P<0.05),与梗塞面积、部位关系不大;ACI患者CD18、CD54表达在7d内均可有较高水平的表达,治疗10d后表达降低,治疗前后比较CD18、CD54差异有意义(P<0.05).[结论]CD18、CD54参与脑梗塞发生发展病理过程.可做为诊断脑梗塞、评估预后的一项辅助指标.     

急性ST段抬高型心肌梗死继发心脏破裂的预测因素分析

研究目的：心脏破裂是急性ST段抬高型心肌梗死最严重的并发症之一,病情凶险,死亡率高。通过明确心肌梗死后出现心脏破裂并发症的危险因素,早期识别心脏破裂高危人群,有利于在急性心肌梗死的早期采取干预措施以减少心脏破裂的发生。创新要点：既往缺乏对中国sT段抬高型心肌梗死继发心脏破裂的系统风险评估,本研究采用回顾性队列研究的方法,完善并健全中国多中心的急性心肌梗死数据库,样本总量达到9798例,为国内同类研究中样本量最多。既往的国外文献报道：女性、高龄、心梗后就诊时间延迟、前壁心肌梗死、溶栓治疗等是心肌梗死后心脏破裂的独立危险因素。本研究在中国人群验证以上危险因素的基础上首次提出就诊时血色素下降及白细胞计数的升高与随后发生的心脏破裂密切相关。新的心脏破裂预测因素的发现有利于对心脏破裂更精细化的危险分层,早期识别心脏破裂高危人群。研究方法：建立中国多中心心肌梗死数据库,比较发生心脏破裂与未发生心脏破裂患者临床特点的差异,筛选敏感特异的心脏破裂的独立预测因素。重要结论：中国人群急性ST段抬高型心肌梗死后心脏破裂的发生率是1．82％,独立预测因素主要包括：高龄、女性、就诊时静息心率增快、前壁心肌梗死、心功能不全、就诊时间延迟、肾功能不全、贫血与白细胞计数升高。本文第一次提出就诊时贫血状态及白细胞计数的升高时与心脏破裂的发生直接相关。     

低分子肝素加丹参注射液治疗急性脑梗塞的疗效观察

目的观察低分子肝素(速避凝)加丹参注射液治疗急性梗塞的疗效.方法对60例起病在48h内的急性脑梗塞患者随机分为治疗组和对照组给予低分子肝素加丹参及普通治疗.结果治疗组较对照组治愈率(P＜0.05)明显提高.结论本疗法疗效理想,应用方便,副反应轻而小,值得临床推广.     

Deregulation of microRNA expression in thyroid tumors简

MicroRNAs (miRNAs or miRs) are endogenous non-coding RNAs that negatively regulate gene expression by binding to the 3′ non-coding regions of target mRNAs, resulting in their cleavage or blocking their translation. miRNAs may have an impact on cell differentiation, proliferation, and survival, and their deregulation can be inclined to diseases and cancers, including thyroid tumors. The purpose of this review is to summarize the existing findings of deregulated miRNAs in different types of thyroid tumors and to exhibit their potential target genes, especially to demonstrate those involved in tumor invasion and metastasis. In addition, new findings of circulating miRNA expression profiles, single nucleotide polymorphism (SNP) in thyroid tumors, and the correlation of somatic mutations with deregulated miRNA expression in thyroid tumors were all included in this review.     

碎裂QRS波对急性心肌梗死患者的短期预后评估(英文)简

This study is aimed to investigate the clinical significance and the short-term prognostic value of frag- mented QRS （fQRS） for patients with acute myocardial infarction （AMI）. Three hundred patients with AMI were tested with retrospective analysis on the patients＇ clinical information, hospitalized treatment, fQRS onset time, location of lesions, and other relevant data, in order to assess the relationship between the presence of fQRS and its prognosis. The rates of malignant cardiac arrhythmia, left ventricular systolic dysfunction （LVSD）, and mortality in the positive fQRS group were 13.6%, 29.2%, and 23.7%, respectively, with all showing a p value 〈0.05. For the ST segment elevation myocardial infarction （STEMI） subgroup, all the rates showed significant differences with a p value 〈0.01, while for the non-STEMI （NSTEMI） subgroup showed no significant differences. In patients with a positive fQRS, there were no differences in malignant cardiac arrhythmia between patients with and without percutaneous coronary in- tervention （PCI） （p〉0.05）. As for the LVSD and mortality, the p values between patients with and without PCI were 0.031 and 0.000, respectively, suggesting statistical significance. The results imply that AMI patients with positive fQRS especially for the patients with STEMI had higher rates of malignant cardiac arrhythmia, LVSD, and mortality than the non-fQRS group. Patients of AMI with positive fQRS, who underwent early revascularization, could lower the incidence of the cardiovascular event. In addition, the presence of fQRS could be used as an indication of early in- tervention treatment for patients.     

急性脑梗死溶栓后静点巴曲酶对凝血机制的影响

目的:研究急性脑梗死家兔尿激酶溶栓后静点巴曲酶对凝血机制的影响。方法:雄性健康新西兰大白兔随机分对照组、治疗1组、治疗2组。采用颈内动脉自血栓塞法建立脑梗死模型。治疗1组尿激酶静脉溶栓;治疗2组尿激酶溶栓后静点巴曲酶;对照组用等量生理盐水替代。分别测定不同时间段3组纤维蛋白原(FIB)、凝血酶原时间(PT)、活化部分凝血酶原时间(APTT)。治疗后22h断头取脑,冰冻切片观察有无脑出血,2%氯化三苯基四氮唑(TTC)染色观察有无脑梗死病灶。结果:治疗1、2组各有2例出血、TTC染色,治疗1组2例正常,治疗2组3例正常。对照组造模后FIB升高,PT、APTT缩短,与造模前比较差异有显著性(P<0.05)。治疗后6h,2个治疗组FIB下降,PT、APTT延长,与造模后2h或对照组比较,差异均有显著性(P<0.05),治疗2组FIB、PT、APTT与治疗1组比较,差异也有显著性(P<0.05)。结论:急性脑梗死家兔尿激酶溶栓后静点巴曲酶在一定剂量范围内是安全的,不增加出血发生率。通过凝血四项检测发现两药同时应用凝血机能下降明显,因此必须严格控制药物剂量,同时监测凝血—纤溶指标,减少出血事件发生。     

后适应在接受直接PCI治疗的急性ST段抬高性心肌梗死患者中的临床疗效:基于随机对照试验的meta分析(英文)

目的:探讨后适应对接受直接经皮冠状动脉介入(PCI)治疗的急性ST段抬高性心肌梗死(STEMI)患者心血管不良事件的影响。创新点:进一步明确后适应处理对STEMI患者临床预后的影响。方法:对符合入选标准的随机对照临床试验进行meta分析。结论:缺血后适应显著降低ST段抬高性心肌梗死患者心衰风险。     

Study of Resistin gene expression in peripheral blood mononuclear cell and its gene polymorphism in a small range population

INTRODUCTION Recently discovered as an endocrine organ, adi-pose tissue can secrete many cytokines such as Re-sistin, adiponectin and free fatty acids, and receives much attention in the study of insulin resistance and type 2 diabetes mellitus (T2DM). As a peptide hor-mone secreted by adipocyte, Resistin is considered to be the linkage between obesity and insulin resistance (Steppan et al., 2001). Most studies on Resistin in-vestigate adipose tissue. In this experiment we de-tected t…     

A meta-analysis of randomized trials on clinical outcomes of paclitaxel-eluting stents versus bare-metal stents in ST-segment elevation myocardial infarction patients

A meta-analysis was performed to address the efficacy and safety of paclitaxel-eluting stent (PES) in ST-segment elevation myocardial infarction (STEMI) patients. A systematic literature search was conducted to identify all randomized clinical trials in mortality, recurrent myocardial infarction (rMI), repeat revascularization (RR), and stent thrombosis (ST). A total of 4190 STEMI patients were enrolled in six randomized trials comparing PES with bare-metal stent (BMS). The pooled repeat revascularization rate was 5.7% in PES group, significantly lower than 10.0% in BMS group with an odds ratio (OR) of 0.56, 95% confidence interval (CI) [0.44, 0.72] (P<0.00001). No significant difference was found between PES and BMS groups in mortality at one year after the indexing procedure (3.9% vs. 5.1%, OR 0.88, 95% CI [0.63, 1.21], P=0.42). Similarly, rMI rate did not differ significantly between the two groups (3.4% vs. 4.1%, OR 0.80, 95% CI [0.56, 1.13], P=0.21). PES was also associated with the comparable pooled rate of definite stent thrombosis with BMS (2.3% vs. 2.4%, OR 0.81, 95% CI [0.52, 1.26], P=0.35). The results show that PES improved clinical outcomes in STEMI patients with a decreased need for repeat revascularization and no concerns for safety.     

Renal insufficiency is an independent predictor of in-hospital mortality for patients with acute myocardial infarction receiving primary percutaneous coronary intervention

Objective:To investigate the relationship between renal function and clinical outcomes among patients with acute ST-segment elevation myocardial infarction (ASTEMI), who were treated with emergency percutaneous coronary intervention (PCI). Methods: 420 patients hospitalized in Peking University First Hospital, diagnosed with ASTEMI treated with emergency (PCI) from January 2001 to June 2011 were enrolled in this study. Estimated glomerular filtration rate (eGFR) was used as a measure of renal function. We compared the clinical parameters and outcomes between ASTEMI patients combined renal insufficiency and the patients with normal renal function. Results:There was a significant increase in the concentrations of fibrinogen and D-Dimer (P<0.05) and a much higher morbidity of diabetes mellitus in the group of patients with chronic kidney disease (CKD; eGFR<60 ml/(min·1.73 m2)) (P<0.01). CKD (eGFR<60 ml/(min·1.73 m2)) was an independent predictor of in-hospital mortality for patients hospitalized with ASTEMI receiving PCI therapy rapidly (P=0.032, odds ratio (OR) 4.159, 95% confidence interval (CI) 1.127-15.346). Conclusions:Renal insufficiency is an independent predictor of in-hospital mortality for patients hospitalized with ASTEMI treated with primary PCI.     

Controversial opinion: evaluation of <Emphasis Type="Italic">EGR1</Emphasis> and <Emphasis Type="Italic">LAMA2</Emphasis> loci for high myopia in Chinese populations

Functional studies have suggested the important role of early growth response 1 (EGR1) and Laminin α2-chain (LAMA2) in human eye development. Genetic studies have reported a significant association of the single nucleotide polymorphism (SNP) in the LAMA2 gene with myopia. This study aimed to evaluate the association of the tagging SNPs (tSNPs) in the EGR1 and LAMA2 genes with high myopia in two independent Han Chinese populations. Four tSNPs (rs11743810 in the EGR1 gene; rs2571575, rs9321170, and rs1889891 in the LAMA2 gene) were selected, according to the HapMap database (http://hapmap.ncbi.nlm.nih.gov), and were genotyped using the ligase detection reaction (LDR) approach for 167 Han Chinese nuclear families with extremely highly myopic offspring (<?10.0 diopters) and an independent group with 485 extremely highly myopic cases (<?10.0 diopters) and 499 controls. Direct sequencing was used to confirm the LDR results in twenty randomly selected subjects. Family-based association analysis was performed using the family-based association test (FBAT) software package (Version 1.5.5). Population-based association analysis was performed using the Chi-square test. The association analysis power was estimated using online software (http://design.cs.ucla.edu). The FBAT demonstrated that all four tSNPs tested did not show association with high myopia (P>0.05). Haplotype analysis of tSNPs in the LAMA2 genes also did not show a significant association (P>0.05). Meanwhile, population-based association analysis also showed no significant association results with high myopia (P>0.05). On the basis of our family- and population-based analyses for the Han Chinese population, we did not find positive association signals of the four SNPs in the LAMA2 and EGR1 genes with high myopia.     

Belonging,school support and communication: Essential aspects of school success for students with cerebral palsy in mainstream schools

PurposeInvestigate successful school experiences for students with cerebral palsy (CP); identify and describe learning and participation at school.MethodsA phenomenologically-informed qualitative study using in-depth interviews with students (n = 7), parents (n = 11), teachers (n = 10), principals (n = 9), and allied health (n = 10) was conducted to investigate multiple perceptions. Thematic analysis occurred within and between groups.ResultsThree themes were identified: Students belong and benefit; Classroom enablers that help; Communication is crucial.ConclusionsStudents’ school experiences are enhanced by innovative classroom solutions that support classroom learning and involvement. Students rely on a diverse team that communicate well and implement individualised solutions that enable success.     

Effect of enalapril on plasma homocysteine levels in patients with essential hypertension

Objective:To investigate the effect of enalapril on plasma homocysteine(Hcy) levels and the association of methylenetetrahydrofolate reductase(MTHFR) C677T polymorphism with the changes of Hcy levels in response to enalapril among patients with essential hypertension.Methods:A total of 130 patients with mild-to-moderate essential hypertension were enrolled and enalapril was orally administered at a dose of 10 mg/d for eight weeks.Plasma Hcy levels were measured by denaturing high-performance liquid chromatography(DHPLC) at baseline and after eight weeks of treatment.Genotyping of MTHFR C677T polymorphism was performed by TaqMan probe technique.Results:Compared with baseline,plasma Hcy levels did not change significantly after eight weeks(P=0.81).Stratified by baseline Hcy levels,a significant increase in plasma Hcy levels(P=0.02) among those with Hcy 10 μmol/L was observed,in contrast to no significant changes in plasma Hcy levels(P=0.54) among those with Hcy ≥10 μmol/L.No significant association was observed between MTHFR C677T polymorphism and changes in Hcy levels in response to enalapril.Conclusions:Enalapril may cause an increase in plasma Hcy levels among the hypertensives with low baseline Hcy levels.There was no significant association between MTHFR C677T genotypes and changes in Hcy levels in response to enalapril among subjects with essential hypertension.     

Association of CASP9, CASP10 gene polymorphisms and tea drinking with colorectal cancer risk in the Han Chinese population

The initiators caspase-9(CASP9) and caspase-10(CASP10) are two key controllers of apoptosis and play important roles in carcinogenesis.This study aims to explore the association between CASPs gene polymorphisms and colorectal cancer(CRC) susceptibility in a population-based study.A two-stage designed population-based case-control study was carried out,including a testing set with 300 cases and 296 controls and a validation set with 206 cases and 845 controls.A total of eight tag selected single nucleotide polymorphisms(SNPs) in CASP9 and CASP10 were chosen based on HapMap and the National Center of Biotechnology Information(NCBI) datasets and genotyped by restriction fragment length polymorphism(RFLP) assay.Multivariate logistic regression models were applied to evaluate the association of SNPs with CRC risk.In the first stage,from eight tag SNPs,three polymorphisms rs4646077(odds ratio(OR) AA+AG:0.654,95% confidence interval(CI):0.406-1.055;P=0.082),rs4233532(OR CC:1.667,95% CI:0.967-2.876;OR CT:1.435,95% CI:0.998-2.063;P=0.077),and rs2881930(OR CC:0.263,95% CI:0.095-0.728,P=0.036) showed possible association with CRC risk.However,none of the three SNPs,rs4646077(OR AA+AG:1.233,95% CI:0.903-1.683),rs4233532(OR CC:0.892,95% CI:0.640-1.243;OR CT:1.134,95% CI:0.897-1.433),and rs2881930(OR CC:1.096,95% CI:0.620-1.938;OR CT:1.009,95% CI:0.801-1.271),remained significant with CRC risk in the validation set,even after stratification for different tumor locations(colon or rectum).In addition,never tea drinking was associated with a significantly increased risk of CRC in testing set together with validation set(OR:1.755,95% CI:1.319-2.334).Our results found that polymorphisms of CASP9 and CASP10 genes may not contribute to CRC risk in Chinese population and thereby the large-scale case-control studies might be in consideration.In addition,tea drinking was a protective factor for CRC.