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1.
周毅  刘卫红  侯梅荣 《安徽医学》2020,41(7):773-777
目的 分析瞬时受体电位香草酸亚型1(TRPV1)基因多态性与小儿哮喘的关系。方法 抽取2018年2~10月平顶山市第一人民医院收治的90例哮喘患儿为研究对象(哮喘组),另选取同期50例体检的健康儿童作为对照(对照组)。均采用限制性片段长度多态性聚合酶链反应(CPCR-RFLP)方法分析TRPV1基因rs222747、rs222748、rs8065080位点的基因型与等位基因分布情况,并对小儿哮喘基因型的危险度进行分析。结果 在哮喘组、对照组中,rs222747、rs222748、rs8065080位点均可检出3种基因型(即rs222747基因型包括CC、GC、GG,rs222748基因型包括CC、TC、TT,rs8065080基因型包括CC、TC、TT)。哮喘组TRPV1基因rs222747位点的3种基因型及等位基因分布与对照组相比差异无统计学意义(P>0.05),而rs222748、rs8065080位点的3种基因型及等位基因分布与对照组比较均存在差异(P<0.05)。在显性模型、隐性模型、共显性模型中均未发现rs222747位点与小儿哮喘有关联(P>0.05)。在显性模型、隐性模型中均未发现rs222748位点与小儿哮喘有关联(P>0.05),在共显性模型下,rs222748位点携带基因型TT的小儿患哮喘的风险是携带基因型CC小儿的5.926倍(P<0.05)。在显性模型下,rs8065080位点携带基因型TC+TT的小儿患哮喘的风险是携带基因型CC小儿的5.233倍(P<0.05);在共显性模型下,rs8065080位点携带基因型TT小儿患哮喘的风险是携带基因型CC小儿的7.058倍(P<0.05)。结论 TRPV1基因rs222748、rs8065080位点基因多态性可能与小儿哮喘的易感性有关,未发现rs222747位点多态性对小儿哮喘的易感性有影响。  相似文献   

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目的:研究(Natural-resistanee-associated macrophage protein1,NRAMP1)NRAMP1基因rs17235409A/G、ra17235416TGTG/(-)位点多态性与重庆地区汉族人群肺结核易患性的关系.方法:采用病例对照研究.按肺结核诊断标准(GB 15987-1995),在重庆市、重庆市沙坪坝区结核病防治所选取初治、肺结核痰涂片阳性的汉族肺结核确诊病例100例;对照为同样诊断标准排除肺结核等疾病的汉族正常人,共106例.用聚合酶链反应-限制性片段长度多态性的方法对NRAMP1基因rs17235409A/G、rs17235416TGTG/(-)进行基因分型,用检验分析这2个位点多态性与结核病易患性的关系,数据分析利用SAS8.2软件进行.结果:病例组中NRAMP1基因rs17235409 GG、GA+AA基因型频率分别为67.00%、33.00%;对照组中分别为87.34%、12.26%,组间分布差异有统计学意义,x2=12.694 8,P<0.05.具有GA或(和)AA基因型的个体患肺结核的OR为3.523 5,OR95%CI为1.762 3~7.0449.rs17235416TGTG/(-)多态性基因频率在病例和对照组间有显著性差异(x2=7.377 3,P<0.05).拥有TGTG/(-)+TGTG(-)/(-)基因型的个体的OR值为2.340 2,OR95%CI为1.267 0~4.322 2.结论:NRAMP1 rs17235409A/G、NRAMP1 rs17235416TGTG/(-)2个位点多态性均与重庆市汉族人群肺结核易患性相关,可能是重庆地区汉族人群肺结核易患性的影响因素.NRAMP1rs17235409A等位基因、rs17235416 TGTG(-)等位基因可能是重庆市汉族人群肺结核发生的危险因素.  相似文献   

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目的 探究rs66593747位点基因型对矮小症患儿血清皮质醇(Cor)、胰岛素样生长因子-1(IGF-1)水平及重组人生长激素(rhGH)治疗疗效的影响。方法 选择2018年12月至2020年7月平顶山市第一人民医院和郑州市儿童医院收治的93例矮小症患儿以及同期体检的35例健康儿童作为研究组与对照组,测定并比较两组对象rs66593747位点基因型(AA、AT、TT型)以及血清Cor、IGF-1水平;依据rhGH疗效将研究组患儿分为有效组与无效组,比较两组rs66593747位点基因型(AA、AT、TT型)、Cor、IGF-1水平,分析rs66593747位点基因型与血清Cor、IGF -1水平及rhGH疗效的关系。结果 研究组AT频率、IGF-1水平低于对照组,TT频率、Cor水平高于对照组差异均有统计学意义(P<0.05)。AT型基因患儿Cor水平低于TT型与AA型,IGF-1水平高于TT型与AA型(P<0.05)。有效组AT频率、IGF-1水平高于无效组,Cor水平低于无效组(P<0.05);rs66593747位点基因型与血清Cor、IGF-1、rhGH治疗疗效分别呈负相关、正相关以及无相关性(r=-0.354,P<0.05;0.312,P<0.05;0.062,P>0.05)。结论 rs66593747位点基因型会影响矮小症患儿血清Cor、IGF-1水平,但不会影响rhGH疗效。  相似文献   

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目的 探讨胞浆型磷脂酶A2(PLA2G4)基因和ATP结合盒亚家族C成员1(ABCC1)基因单核苷酸多态性(SNPs)与支气管哮喘儿童白三烯受体拮抗剂(LTRA)孟鲁司特疗效的关系。方法 选取2019年3月—2021年9月于中国人民解放军北部战区总医院诊治的121例哮喘患儿为研究对象,受试儿童均采用常规治疗+孟鲁司特方案治疗1个月。应用imLDRTM技术检测受试儿童PLA2G4基因rs10157410、rs10489409、rs932476位点和ABCC1基因rs215066位点的SNPs,探究各位点不同基因型间治疗前后肺功能、炎症指标及哮喘症状控制水平分级的变化情况。结果 孟鲁司特治疗前后PLA2G4基因rs10157410、rs10489409、rs932476位点不同基因型间的肺功能指标比较,差异均无统计学意义(P >0.05)。孟鲁司特治疗后,PLA2G4基因rs10157410位点GC和GG基因型、rs10489409位点CT和TT基因型、rs932476位点GA和AA基因型及ABCC1基因rs215066位点的第1秒用力呼气容积占预计值百分比、第1秒用力呼气容积与用力肺活量比值、用力呼出50%和75%肺活量时的瞬时流量占预计值百分比均升高(P <0.05)。孟鲁司特治疗后,PLA2G4基因rs10489409位点CC基因型患儿嗜酸性粒细胞计数较治疗前改善不显著(P >0.05),PLA2G4、ABCC1基因各位点不同基因型的免疫球蛋白(IgE)、呼出气一氧化氮均较治疗前改善显著(P <0.05)。孟鲁司特治疗后,PLA2G4基因rs10157410位点GC基因型良好控制比例高于GG基因型,未控制低于GG基因型(P <0.05);PLA2G4基因rs932476位点GA和AA基因型良好控制比例与GG基因型比较,差异有统计学意义(P <0.05)。Logistic回归分析结果显示,PLA2G4基因rs10157410位点GC基因型良好控制比例是GG基因型的5.639倍[O^R =5.639(95% CI:2.078,15.298)],rs932476位点GG基因型良好控制比例是AA基因型的0.053倍[O^R =0.053(95% CI:0.006,0.430)]。结论 PLA2G4基因rs10157410位点GC基因型和rs932476位点AA基因型对孟鲁司特具有更好的敏感性。  相似文献   

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目的 探讨血清趋化因子CXC配体16(CXCL16)基因rs2277680多态性与急性动脉粥样硬化性脑梗死患者的颈动脉斑块易损性的关系。方法 476例急性动脉粥样硬化性脑梗死患者根据B型超声检查结果分为稳定斑块组(218例)和颈动脉易损斑块组(258例)。采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法分析CXCL16基因rs2277680多态性。结果 稳定斑块组GA+AA基因型频率为80.3%,易损斑块组GA+AA基因型频率显著为87.6%,两组间的GA+AA基因型频率比较差异有统计学意义(χ2=4.772,P=0.032),表明易损斑块组GA+AA基因型频率显著高于稳定斑块组。A等位基因频率在稳定斑块组为63.3%和易损斑块组为62.2%,两组间的A等位基因频率分布比较,差异无统计学意义(χ2=0.121,P=0.737)。结论 CXCL16基因rs2277680多态性AA+GA基因型与急性动脉粥样硬化性脑梗死患者颈动脉斑块易损性存在着相关性;但A等位基因不是颈动脉斑块易损的遗传易感基因。  相似文献   

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目的探讨甘肃汉族人群溶质载体家族30成员8(SLC30A8)基因多态性与2型糖尿病的相关性。方法采用聚合酶链式反应-限制性片段长度多态性分析法,随机选取甘肃116例2型糖尿病患者(2型糖尿病组)及80例体检者(对照组)进行SLC30A8基因rs13266634C/T单核苷酸多态性检测,比较两组间基因型频率和等位基因频率及相关性;以稳态模型胰岛B细胞分泌功能指数评估胰岛B细胞功能,胰岛素抵抗指数评估胰岛素抵抗。结果 2型糖尿病组CC基因型频率明显高于对照组,而TT基因型频率低于对照组。2型糖尿病组CC基因型频率与TT基因型频率比较,有显著性差异(P<0.01);C风险等位基因患2型糖尿病的风险是T等位基因者的2.40倍,有显著性差异(P<0.01);CC基因型的胰岛B细胞分泌功能指数、空腹胰岛素显著低于TT基因型,差异有统计学意义P<0.05)。CC、CT、TT3种基因型的胰岛素抵抗指数,差异无统计学意义。结论甘肃汉族人群存在SLC30A8基因rs13266634多态性,rs13266634多态性与甘肃汉族2型糖尿病的发生相关;SLC30A8基因rs13266634的C等位基因可能是2型糖尿病的风险等位基因。SLC30A8基因增加2型糖尿病的易感性可能与胰岛B细胞功能下降有关,与胰岛素抵抗无明显相关性。  相似文献   

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目的 探讨中国西部地区藏族人群Wnt信号通路相关基因多态性位点与结核病易感性的关系。 方法 采用MassARRAY质谱分析法对488例藏族结核病患者(病例组)和454例藏族健康对照(对照组)进行Wnt信号通路中5个基因单核苷酸多态性(SNP)检测,分别为CTNNB1基因rs4135385位点、DKK1基因rs11001553位点、WIF1基因rs56900803位点、SFRP1基因 rs7832767位点和AXIN2基因rs11079571位点。计算目标SNPs的基因型及等位基因频率的分布,并对差异有统计学意义的突变位点进行遗传模型分析(共显性、显性、隐性模型)。同时,比较目标SNPs在藏族与汉族两个群体中的多态性差异。结果 5个SNPs位点在病例组与对照组的频率分布均符合Hardy-Weinberg平衡。SFRP1 rs7832767在病例组和对照组中的基因型和等位基因频率分布差异有统计学意义(P=0.004,0.002)。相较于野生型等位基因C,突变等位基因T可能增加藏族人群患结核病的风险〔比值比(OR)=1.260, 95%可信区间(95%CI): 1.086~1.471, P=0.002〕。该位点的共显性遗传模型TT/CC,显性遗传模型TC+TT/CC及隐性遗传模型TT/CC+TT都显示出与高结核病发病风险相关(P值分别为0.004,0.030、0.002,OR值分别为2.31、1.33、2.15)。其余4个SNPs位点的基因型频率与等位基因频率分布在两组中相似,差异无统计学意义(P均 > 0.05)。比较汉族、藏族结核人群发现:CTNNB1基因rs4135385位点的基因型频率和等位基因频率在两组人群中的分布不一致,差异有统计学意义(P=0.035, 0.021),其余4个SNPs位点在两民族间的分布差异无统计学意义(P均>0.05)。 结论 Wnt信号通路SFRP1基因多态性与中国西部地区藏族人群结核病的发生相关,SFRP1基因可能属于结核病的易感基因。CTNNB1基因多态性提示藏、汉族人群具有不同的遗传背景。  相似文献   

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目的 探讨KCNA5基因单核苷酸多态性(SNP)与特发性房颤(IAF)的关系。方法 选取2015年1月至2018年12月海南医学院第二附属医院收治的204例IAF患者(IAF组)作为研究对象,并以性别、年龄作为匹配因子收集200例体检健康者作为对照组。采用基因测序法检测两组研究对象KCNA5 SNP(rs3741930、rs1056468)的分布,基于不同基因型(rs3741930、rs1056468)将IAF患者分为两组,比较IAF患者不同基因型相关临床指标的差异。结果 ①KCNA5基因rs3741930位点CC、CT、TT在IAF组、对照组中实际分布与预期分布对比,差异均无统计学意义(P>0.05),KCNA5基因rs1056468位点AA、AT、TT在IAF组、对照组中实际分布与预期分布对比,差异均无统计学意义(P>0.05);②IAF组rs3741930位点CC基因型和等位基因C分布频率高于对照组,差异有统计学意义(P<0.05),两组研究对象CT、TT基因型频率对比,差异无统计学意义(P>0.05);IAF组rs1056468位点AA、AT、TT和等位基因A分布频率与对照组对比差异均无统计学意义(P>0.05);③IAF患者rs3741930位点CC与CT+TT基因型年龄、舒张压、收缩压、心率、左心房内径、射血分数对比,差异均无统计学意义(P>0.05),CC基因型患者体质量指数(BMI)高于CT+TT基因型,差异有统计学意义(P<0.05);IAF患者rs1056468位点AA与AT+TT基因型年龄、舒张压、收缩压、心率、左心房内径、射血分数对比,差异均无统计学意义(P>0.05),AA基因型患者BMI低于AT+TT基因型,差异有统计学意义(P<0.05)。结论 KCNA5基因SNP rs3741930与IAF发病有关,C等位基因携带人群更易患病。  相似文献   

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目的:探讨硒蛋白P(Sepp1)基因rs7579位点单核苷酸多态性(SNPs)与结直肠癌遗传易感性的关系,为结直肠癌的遗传学机制研究提供理论依据。方法:采用病例对照研究方法,采用四引物扩增阻碍突变体系聚合酶链反应(tetra-primer ARMS-PCR)技术检测130例结直肠癌患者及153名体检健康者Sepp1基因rs7579位点基因型和等位基因频数,并经测序验证。分析Sepp1基因rs7579位点基因型、等位基因与结直肠癌遗传易感性的关联性,并分析不同临床特征结直肠癌患者Sepp1基因rs7579位点基因型与结直肠癌遗传易感性的关联性。结果:结直肠癌组和健康对照组研究对象Sepp1基因 rs7579 位点多态性分布情况均符合Hardy-Weinberg平衡(P>0.05),结直肠癌组患者和健康对照者Sepp1基因rs7579位点GG、GA和AA基因型频数及G、A等位基因频数比较差异无统计学意义(P>0.05)。分层分析,年龄≥55岁组中,结直肠癌组和健康对照者组研究对象rs7579位点GG、GA和AA基因型频数比较差异有统计学意义(χ2=3.228,P=0.050),结直肠癌组患者AA基因型频率明显低于健康对照组(χ2=3.228,P=0.050,OR=0.566,95%CI:0.320-0.999)。结论:Sepp1基因rs7579位点多态性与结直肠癌的发病无关联,A等位基因可能是55岁以上中国人群降低结直肠癌发病的保护性因素之一。  相似文献   

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Objective: To evaluatel the value of D-dimers in patients with acute aortic dissection (AAD). Methods: This study consisted of 16 patients with AAD and 27 non-AAD patients. Serum D-dimets were measured by Sta-Liatest D-DI immunoturbidimetric assay. Results: D-dimer level was higher (P < 0.001) in patients with AAD(7.91 ± 5.52 μg/ml) than that in non- AAD group(1.57±1.24 μg/ml). D-dimer was positive (>0.4 μg/ml) in all patients with AAD and in 10 control group patients (37%). Among patients with acute AAD, D-dimers tended to be higher in Stanford A than in Stanford B (8.67 ± 4.31 μg/ml vs. 3.24±1.27 μg/ml, P <0.01). D-dimer values tended to be higher in more extended disease(3.84 ± 1.65 μg/ml, 8.57 ± 3.58 μg/ml and 11.87 ± 5.69 μg/ml in thoracic aorta, thoracic and abdominal aorta, thoracic and abdominal aorta and iliacal arteries, respectively, P < 0.05 for both 8.57 ± 3.58 and 11.87 ± 5.69 vs. 3.84 ± 1.65 ). Including the control group into the analysis, we found a sensitivity of 100%, a negative predictive value of 100%, and a specificity of 66% and a positive predictive value of 64% for D-dimer in diagnosis of AAD in our patients with suspected AAD. Conclusion: D-dimer was elevated in patients with AAD. A negative D-dimer test result could be useful in excluding AAD.  相似文献   

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Objective: To set up a simple and reliable rat model of combined liver-kidney transplantation. Methods: SD rats served as both donors and recipients. 4℃ sodium lactate Ringer's was infused from portal veins to donated livers,and from abdominal aorta to donated kidneys, respectively. Anastomosis of the portal vein and the inferior vena cava (IVC) inferior to the right kidney between the graft and the recipient was performed by a double cuff method, then the superior hepatic vena cava with suture. A patch of donated renal artery was anastomosed to the recipient abdominal aorta. The urethra and bile duct were reconstructed with a simple inside bracket. Results: Among 65 cases of combined liver-kidney transplantation, the success rate in the late 40 cases was 77.5%. The function of the grafted liver and kidney remained normal. Conclusion: This rat model of combined liver-kidney transplantation can be established in common laboratory conditions with high success rate and meet the needs of renal transplantation experiment.  相似文献   

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Objective To observe blood pressure change with age in salt-sensitive teenagers whose salt sensitivity were determined by repeated testing.Methods Salt sensitivity was determined through intravenous infusion of normal saline combined with volume-depletion by oral diuretic furosemide in 55 teenagers. After five years, salt sensitivity was re-examined and subject blood pressure was followed up. Blood pressure changes in salt-sensitive teenagers were compared to that of non-salt sensitive teenagers over five years.Results After 5 years, the repetition rate of salt sensitivity determined by intravenous saline loading is 92.7%. In teenagers with salt sensitivity on the baseline, both the systolic blood pressure increments and increment rates were much higher than non-salt sensitive teenagers (12.7±12.1 mmHg vs. 2.8±5.2 mmHg, P< 0.01; 12.2%± 12.0% vs. 2.5% ±4.4%, P< 0.001,respectively). There was a similar trend for diastolic blood pressure (8.4 ± 6.4 mmHg vs. 3.7 ± 6.4 mmHg, P = 0.052; 13.2% ±10.6 % vs. 6.8%± 10.1%, P = 0.053, respectively).Conclusions Salt sensitivity determined by intravenous saline loading showed good reproducibility. Blood pressure increments with age were much higher in salt-sensitive teenagers than non-salt sensitive teenagers, especially in terms of systolic blood pressure.  相似文献   

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Shock wave lithotripsy (SWL) is a treatment of choice for upper urinary stones. However, this procedure is inappropriate for obese patients because the focus is often unable to reach the target owing to the limited focal distance in shock wave source. Although treating such patients in a blast path may increase the application length of shock wave source, it's difficult to find this path on the lithotripter monitor. For this reason, we invented an adjustable calibration marker in order to set an effective focus in the shock wave hath.  相似文献   

15.
Excess production of reactive oxygen species(ROS)of mitochondrion mediated by hyperglycemia is the common pathogenesis of angiopathic complications of diabetes.TCM holds that the damp from the dysfunction of spleen.kidney and liver is the causative factor of complications of diabetes.This is similar to the mechanism of Ros resulting in angiopathic complications of diabetes.When the angiopathic complications of type II diabetes mellitus(T2DM)are difierentiated as caused by turbid damp in TCM can be explained as ROS.Since the obstruction of pathogenic damp in channels and collaterals is said to be the main pathogenesis,the treating principle should be dissolving the damp to remove the obstruction.  相似文献   

16.
INTRODUCTION Obesity is a complex emergent problem, which can be possibly solved not only by the diet but also by the life style and promotion of a constant physical exercise. 1, 2 No doubt careful attentions must be given to the nutritional condition of obese people, the dietary habits, the somatic build (i.e. distribution of fat mass) and the organic functions linked to formation of the fat mass. All the parameters should be constantly monitored before, during and after a diet treatment. 3, 4, 5  相似文献   

17.
People with dysglycemia are at high risk for atherosclerotic diseases. This study aims at investigating the atherosclerotic vascular damage in dysglycemia and its metabolic origin in Tibetan population.  相似文献   

18.
FOR anesthesiologis s ,treatingpostoperativepainhas alwaysbeen a problem.Althoughopioidshave been provedtobe effective,theirsideeffectscouldnotbeignored.With thedevelopmentofscienceand pharmacology,many drugs with aspectsof satisfactoryanalgesicefficacyand couldbe welltoleratedby patientshave been developed.And lornoxicamisone of them, which isa non-steroidalanti-inflammatorydrug (NSAID ), with analgesic, anti-infl-ammatory,andantipyreticproperties.Itseliminationhalf-time(3 to 5 hours) isle…  相似文献   

19.
目的:评价使用安心颗粒对急诊经皮冠状动脉介入术(PPCI)术后生活质量的影响.方法:将160例接受PPCI的急性ST段抬高型心肌梗死患者随机分为安心颗粒组(术前顿服安心颗粒8.8g,术后安心颗粒4.4 g/次,每日2次)和对照组(仅接受基础药物治疗).所有患者均服用阿司匹林、氯吡格雷和阿托伐他汀.分别在入院时、出院前1d、出院后180 d时,应用心肌梗死多维度量表(MIDAS)、中文版SF-36评价量表对患者生活质量评分.并观察术后30 d以内的出血并发症、血小板减少症发生情况.结果:入院时和出院前1d,两组患者的心肌梗死MIDAS、SF-36量表评分比较无差异(P>0.05);出院后180 d时,与对照组比较,安心颗粒组MIDAS、SF-36评分明显减低(P<0.05);组内与入院时比较,两组出院前1d、出院后180 d时,MIDAS、SF-36评分均降低(P<0.05).两组患者在随访期间均无大量出血、少量出血、重度和极重度血小板减少症发生,安心颗粒组有4例、对照组有7例发生不明显出血(P>0.05).两组发生轻度血小板减少症的患者数比较无差异(P>0.05).结论:PPCI使用安心颗粒,能改善急性ST段抬高型心肌梗死患者的生活质量,且不增加出血风险.  相似文献   

20.
Objectives To explore serum cytokines levels (including IL-1 β, sIL-2R, IL-6, TNF-α, and IFN-v) and their significance in patients with acute coronary syndrome (ACS) and the subsequent follow-ups, with attempt to estimate the role of various serum inflammatory markers in the diagnosis and assessment of ACS.Methods The study population include 40 patients with acute myocardial infarction (AMI), 40 patients with unstable angina pectoris (UAP), and 40 controls. Among the 80 patients, 60 patients attended a follow up 4 months later. Serum inflammatory markers including IL-1 β, sIL-2R, IL-6, TNF-α, and IFN-v were measured by enzyme linked immunosorbent assay.Results Serum IL- 1 β, sIL-2R, IL-6, TNF-α were significantly higher in AMI group or UAP group compared to the control group and became significantly lower 4 months later in the follow-up patients. Serum levels of IFN-v shows no significant difference between AMI group or UAP group and controls, also showing no significant change when measured in follow up patients. There was no correlation between serum creatine kinase-MB isoenzyme levels and serum inflammatory markers either in UAP or AMI group. Furthermore, when divided into two subgroups using Wagner's QRS scoring system in the AMI group, there is no difference of each serum inflammatory marker between ≤ 6 scores group and > 6 scores group.Conclusion Serum levels of certain inflammatory markers may have some diagnostic value for ACS, and can be a useful marker reflecting disease stability.  相似文献   

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