A common allele on chromosome 9 associated with coronary heart disease

Coronary heart disease (CHD) is a major cause of death in Western countries. We used genome-wide association scanning to identify a 58-kilobase interval on chromosome 9p21 that was consistently associated with CHD in six independent samples (more than 23,000 participants) from four Caucasian populations. This interval, which is located near the CDKN2A and CDKN2B genes, contains no annotated genes and is not associated with established CHD risk factors such as plasma lipoproteins, hypertension, or diabetes. Homozygotes for the risk allele make up 20 to 25% of Caucasians and have a approximately 30 to 40% increased risk of CHD.     

Rho激酶抑制剂治疗急性心肌梗死血清炎症因子的变化及疗效观察

目的给予急性心肌梗死患者早期应用Rho激酶抑制剂,测查其血清炎症因子IL-6,TNF-a,NO的变化情况,并以此为依据,观察Rho激酶抑制剂临床治疗效果.方法选择同期收治的未接受冠脉介入治疗的急性心肌梗死患者50例.随机分为治疗组和常规组,各25例.两组均给予硝酸甘油、硫酸氢氯吡格雷、辛伐他丁等常规治疗.治疗组在常规治疗的基础上静脉滴注盐酸法舒地尔30 mg,2次/d,10 d为1个疗程,观察患者血清炎症因子IL-6,TNF-a,NO浓度变化.结果加用法舒地尔的治疗组患者血清炎症因子IL-6,TNF-a浓度下降,NO浓度增高,均比常规组明显,且患者心功能检测治疗组改善更明显.结论 Rho激酶抑制剂治疗急性心肌梗死能够更有效地保护心肌细胞,降低炎症因子对心肌细胞的损伤,对改善患者心功能有显著效果.     

血液内溶血磷脂酸浓度与奥扎格雷钠治疗TIA疗效关系的研究

目的研究血液内溶血磷脂酸浓度与奥扎格雷钠治疗短暂脑缺血发作（TIA）的疗效关系.方法选择TIA患者60例,分别检测其血液内LPA浓度,根据其血液内LPA浓度将其分为LPA浓度升高组（39例）和LPA浓度正常组（21例）.2组患者应用奥扎格雷钠80 mg/d进行治疗,随访1个月,观察TIA患者的发作频率以及发展成为脑梗死的发病率.结果经过1个月的奥扎格雷钠治疗,LPA浓度升高组的39例TIA患者中,平均发作次数为（1.60±0.39）次,共有5例发展成为脑梗死,发病率为12.82%;而LPA浓度正常的21例TIA患者中,平均发作次数为（2.45±0.56）次,有7例发展成为脑梗死,发病率为33.33%.结论奥扎格雷钠治疗高血浓度LPA的TIA患者疗效明显优于低血浓度LPA患者.     

主动脉内球囊反搏术辅助治疗急性心肌梗死并心源性休克的疗效观察

目的：观察主动脉内球囊反搏术(IABC)辅助治疗急性心肌梗死(AMI)并心源性休克的效果。方法：分析27例AMI并心源性体患者应用IABP后的治疗效果。结果：27例接受IABP治疗后，血流动力学稳定，其中的12例接受再血管化治疗，1例发生再梗死，2例出现恶性心律失常，存话15例，死亡12例，存活率为55．6％。结论：IABP可有效稳定血流动力学状态，减少再梗死，为再血管化治疗赢得了时间，提高了生存率，是有效的辅助治疗手段。     

乙酰水杨酸单用与联用对不稳定型心绞痛治疗效果比较

目的观察单用乙酰水杨酸和联用低分子肝素钠注射剂（希弗全）治疗不稳定型心绞痛（UAP）的临床疗效．方法将172例UAP患者随机分为治疗组（乙酰水杨酸＋希弗全）和对照组（乙酰水杨酸）,疗程1周．结果1周后总有效率治疗组为88．37％,对照组为67．44％（P＜0．05）;观察4周后,治疗组无急性心肌梗死发生,对照组发生6例（9．38％）急性心肌梗死;治疗组未发现明显不良反应．结论用低分子肝素钠注射剂配合常规治疗能有效减低心肌梗死发生率,并显著减少患者心绞痛发作次数,用该方法联合治疗UAP取得了较好的疗效．     

Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes

The molecular mechanisms involved in the development of type 2 diabetes are poorly understood. Starting from genome-wide genotype data for 1924 diabetic cases and 2938 population controls generated by the Wellcome Trust Case Control Consortium, we set out to detect replicated diabetes association signals through analysis of 3757 additional cases and 5346 controls and by integration of our findings with equivalent data from other international consortia. We detected diabetes susceptibility loci in and around the genes CDKAL1, CDKN2A/CDKN2B, and IGF2BP2 and confirmed the recently described associations at HHEX/IDE and SLC30A8. Our findings provide insight into the genetic architecture of type 2 diabetes, emphasizing the contribution of multiple variants of modest effect. The regions identified underscore the importance of pathways influencing pancreatic beta cell development and function in the etiology of type 2 diabetes.     

血液微小RNA-499对早期诊断急性心肌梗死价值的Meta分析

目的 评估病人血液微小RNA-499诊断早期急性心肌梗死的应用价值。方法 通过数据库PubMed、Embase、Medline、Cochrane Library 检索已经发表的英文文献,经文献质量评价后提取研究所需数据,利用Stata 14.0 软件进行Meta分析。结果初步检索出113篇英文文献,经纳入与排除标准筛选后,最终纳入研究的文献共9篇。参与病例数1 091例,合并研究间的异质性I²=23.3%,敏感性0.83,特异性0.88,诊断优势比36,受试者工作特征曲线下面积0.84。结论 血液中微小RNA-499在急性心肌梗死患者是升高的,可以作为早期诊断的分子生物学标志。     

老年胃癌患者围手术期处理146例临床研究

目的探讨老年胃癌围手术期处理的有关问题．方法对1995-2009年收治的146例60岁以上胃癌患者的外科处理进行总结分析．结果手术切除30例（90．4％）,术后并发症为肺部感染23例（15．7％）,切口感染裂开8例（5．4％）,应激性溃疡4例（2．7％）,功能性排空障碍2例（1．4％）,急性肺栓塞1例（0．7％）,急性心肌梗死2例（1．4％）,泌尿系感染5例（3．4％）,死亡6例（4．1％）．结论加强对老年胃癌患者围手术期处理是降低老年胃癌患者并发症和死亡率的关键．     

A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants

Identifying the genetic variants that increase the risk of type 2 diabetes (T2D) in humans has been a formidable challenge. Adopting a genome-wide association strategy, we genotyped 1161 Finnish T2D cases and 1174 Finnish normal glucose-tolerant (NGT) controls with >315,000 single-nucleotide polymorphisms (SNPs) and imputed genotypes for an additional >2 million autosomal SNPs. We carried out association analysis with these SNPs to identify genetic variants that predispose to T2D, compared our T2D association results with the results of two similar studies, and genotyped 80 SNPs in an additional 1215 Finnish T2D cases and 1258 Finnish NGT controls. We identify T2D-associated variants in an intergenic region of chromosome 11p12, contribute to the identification of T2D-associated variants near the genes IGF2BP2 and CDKAL1 and the region of CDKN2A and CDKN2B, and confirm that variants near TCF7L2, SLC30A8, HHEX, FTO, PPARG, and KCNJ11 are associated with T2D risk. This brings the number of T2D loci now confidently identified to at least 10.     

冠状动脉结扎制备大鼠心肌梗死模型及血流动力学检测

目的 探讨大鼠心肌梗死模型制备及血流动力学检测方法.方法 60只雄性SD大鼠随机分为模型组、假手术组,分别行左冠状动脉前降支结扎术和假手术,术后2周行血流动力学检测及心脏组织病理学检查.结果 模型组大鼠左室收缩压(LVSP)、左室压最大上升和下降速率(±dp/dtmax)明显低于假手术组(P＜0.05或0.01),左室...     

Linkage of early-onset familial breast cancer to chromosome 17q21

Human breast cancer is usually caused by genetic alterations of somatic cells of the breast, but occasionally, susceptibility to the disease is inherited. Mapping the genes responsible for inherited breast cancer may also allow the identification of early lesions that are critical for the development of breast cancer in the general population. Chromosome 17q21 appears to be the locale of a gene for inherited susceptibility to breast cancer in families with early-onset disease. Genetic analysis yields a lod score (logarithm of the likelihood ratio for linkage) of 5.98 for linkage of breast cancer susceptibility to D17S74 in early-onset families and negative lod scores in families with late-onset disease. Likelihood ratios in favor of linkage heterogeneity among families ranged between 2000:1 and greater than 10(6):1 on the basis of multipoint analysis of four loci in the region.     

脑钠肽水平与急性心肌梗死面积关系的研究

目的探讨血浆脑钠肽（BNP）水平与急性心肌梗死（AMI）面积的关系.方法以86例AMI患者为观察对象,根据梗死相关部位的不同将其分为前壁心肌梗死组57例,下壁心肌梗死组29例.结果 Aldrich公式法预测的心梗面积与治疗前BNP水平显著相关,而QRS积分法预测的心梗面积与治疗后BNP水平显著相关（r分别为0.889,0.872,P〈0.01）;前壁心肌梗死组治疗前BNP水平高于下壁心肌梗死组.结论 BNP与AMI的面积有相关性,BNP越高,心肌梗死的面积越大,BNP可能为急性心肌梗死初期的危险分层提供重要依据.     

A variant of the HTRA1 gene increases susceptibility to age-related macular degeneration

Age-related macular degeneration (AMD) is the most common cause of irreversible vision loss in the developed world and has a strong genetic predisposition. A locus at human chromosome 10q26 affects the risk of AMD, but the precise gene(s) have not been identified. We genotyped 581 AMD cases and 309 normal controls in a Caucasian cohort in Utah. We demonstrate that a single-nucleotide polymorphism, rs11200638, in the promoter region of HTRA1 is the most likely causal variant for AMD at 10q26 and is estimated to confer a population attributable risk of 49.3%. The HTRA1 gene encodes a secreted serine protease. Preliminary analysis of lymphocytes and retinal pigment epithelium from four AMD patients revealed that the risk allele was associated with elevated expression levels of HTRA1 mRNA and protein. We also found that drusen in the eyes of AMD patients were strongly immunolabeled with HTRA1 antibody. Together, these findings support a key role for HTRA1 in AMD susceptibility and identify a potential new pathway for AMD pathogenesis.     

希罗达治疗晚期结肠癌18例临床分析

目的观察希罗达作为一线药物治疗晚期结肠癌的疗效及安全性.方法对18例具有可测量指标的晚期结肠癌患者采用希罗达2 500 mg/（m^2·d）,分早晚2次服用,用药前予格拉司琼预防呕吐,防止喉痉挛,减少末梢神经副反应,21 d为1周期,完成2周以上评价疗效.18例患者共完成78周期.结果CR 0例,PR 8例（44.4%）,总有效率44.4%,NC 8例（44.5%）,PD 2例（11.1%）.结论希罗达作为一线药物治疗晚期结肠癌有较好疗效,副作用小,特别适宜于年老体弱患者.     

脑疝后脑梗死的危险因素分析

目的探讨脑疝后脑梗死发生的危险因素。方法脑疝患者109例,其中发生脑梗死18例,收集这些患者的临床和影像学资料,分析脑疝后脑梗死发生的危险因素。结果糖尿病史、外伤所致脑疝及脑疝时大脑脚池、环池受压明显者脑疝后脑梗死发生率高于阴性患者(P<0.01或0.05)。结论糖尿病史、外伤所致脑疝及脑疝时大脑脚池、环池受压明显是脑疝后脑梗死的危险因素。     

Genome-wide detection for runs of homozygosity analysis in three pig breeds from Chinese Taihu Basin and Landrace pigs by SLAF-seq data

Erhualian (E), Meishan (MS) and Mi (MI) pigs are excellent indigenous pig breeds in Chinese Taihu Basin, which have made great contributions to the genetic improvement of commercial pigs. Investigation of the genetic structure and inbreeding level of the 3 pig breeds is of great significance for the sustainable breeding of commercial pigs. The length and number of runs of homozygosity (ROH) as well as the frequency of genomes covered by ROH can be used as indicators to evaluate the level of inbreeding and the origin of the population. In this study, the ROH characteristics of E, MS, MI and Landrace (L) pigs were analyzed by SLAF-seq data, and the inbreeding coefficient based on ROH (F_ROH) was calculated. In addition, we have identified candidate genes in the genomic regions associated with ROH. A total of 10568 ROH were detected in 116 individuals of 4 pig breeds. The analysis showed that there were significant differences in genetic structure between 3 Taihu Basin pig breeds and L, and the genetic structure of E and MI was similar. The results of F_ROH showed that the inbreeding level of MS was the highest (0.25±0.07), while E and MI were lower than L. Compared with the other 3 pig populations, MS showed a higher frequency of long ROH (>5 Mb), indicating higher inbreeding in MS in recent generations. A large number of candidate genes related to reproductive traits are located in the genomic regions with a high frequency of ROH, and these genes are expected to be used as candidate genes in marker-assisted selection (MAS) breeding programs. Our findings can provide theoretical support for genetic conservation and genetic improvement of 3 pig breeds in Chinese Taihu Basin.     

辽宁春麦区小麦白粉菌抗药性监测研究

本项研究通过方法比较、灵敏度基线的确定、菌种采集、保存等方法,建立了小麦白粉菌对三唑酮抗药监测的配套技术。经对辽宁新城子区等２１个采样点的３０６个小麦白粉菌单孢子堆分离系进行了针对常规药剂三唑酮的抗性测定。与野生敏感菌的灵敏度基线相比较,９０％以上被测菌系ＭＩＣ均在２倍基线值以下,少数菌系达到５倍基线值。而已发现抗药菌系的山东烟台４７．９％被测群体的灵敏度在５倍基线值以上,大于７倍基线值的占３．２％。说明：辽宁、湖北、河南的小麦白粉菌群体对三唑类杀菌剂的灵敏度已呈下降趋势,但与烟台地区相比较,这种灵敏度下降仍为初级阶段。     

急性冠脉综合征患者血清sol-CXCL16水平及其与hs-CRP、TIMI积分的相关性

目的观察急性冠脉综合征（ACS）患者血清可溶性CXC趋化因子配体16（sol-CXCL16）水平及其与高敏C-反应蛋白（hs-CRP）、TIMI危险积分的关系。方法分别测定50名ACS患者、50名稳定型心绞痛患者和30名健康者血清solCXCL16和hs-CRP水平,并计算ACS患者的TIMI危险积分。结果 ACS组sol-CXCL16和hs-CRP水平明显高于其他两组,差异有统计学意义（P〈0.01）。sol-CXCL16水平和TIMI危险积分呈正相关（rs=0.282,P〈0.05）,但其与hs-CRP水平无明显相关（r=0.352,P〉0.05）。结论血清sol-CXCL16水平可能在ACS早期诊断和危险评估上有一定临床意义。     

G-CSF对急性心梗大鼠血浆和心肌组织中Ang1I和ET含量的影响

目的探讨粒细胞集落刺激因子（G-CSF）对急性心肌梗死（AMI）大鼠血浆及心肌组织中血管紧张素Ⅱ（AngⅡ）和内皮素（ET）含量的影响。方法通过结扎冠状动脉前降支建立急性心肌梗死（AMI）大鼠模型,将大鼠随机分为G-CSF治疗组（GAMI组）、心肌梗死对照组（AMI组）和假手术组（SO组）,GAMI组模型制备后3h给予生理盐水稀释的rhG-CSF（浓度为2mg/L）皮下注射10μg/kg/d,共5d。AMI组和SO组3h后给予等量的生理盐水皮下注射,共5d。三组大鼠于急性心肌梗死模型制造成功后24h、1周和2周后检测各组血浆及心肌组织中AngⅡ和ET的含量。结果 24hAMI组与SO组血浆及心肌组织中AngⅡ和ET含量相比均有提高但只有心肌中ET含量有显著的差异（P〈0。05）。1周后AMI组与SO组血浆及心肌组织中AngⅡ和ET含量相比两者含量有明显增高（P〈0。05）。2周后AMI组与SO组血浆及心肌组织中AngⅡ和ET含量相比两者含量增加的更加明显（P〈0。01）。GAMI组血浆及心肌组织中AngⅡ和ET含量与相应的AMI组比较有明显的降低。结论 G-CSF能降低急性心肌梗死模型大鼠血浆和心肌组织中AngⅡ和ET的含量,G-CSF对AMI大鼠损伤心肌有保护作用。