氨基咪唑氨甲酰转移酶基因多态性在类风湿关节炎患者甲氨蝶呤治疗中的研究

Objective To investigate the relationship between the single nucleotide polymorphism of aminoimidazole carbexamide ribonucleotide transformylase gene and the efficacy and toxicity of methotrexate treatment in rheumatoid arthritis. Methods Total of 359 patients with RA were divided into mono-therapy with MTX group, combination therapy with other DMARDs group and other DMARDs combination with no MTX treatment group. The clinical and laboratory measurements were evaluated before therapy and 12, 24 weeks after therapy. Efficacy (evaluated by ACR20) and side effects of the drugs were also assessed. Real-time fluorescent quantitative PCR was conducted to test ATIC 347C/G mutation in RA patients and 340 healthy controls. Results There was no statistical significant difference in 347 CC, CG, GG between RA patients and healthy controls. In the MTX mono-therapy group (n=107), 72% (n=77) there was no statistical significant difference in 347CC, CG, GG between patients with good response and patients without efficacy. 32.7%(n=35) of these patients experienced adverse drug reactions. The ATIC G allele carriers (22.4%) experienced a greater frequency of side effects than the CC carriers (OR=2.672, 95%CI, 1.27～5.59, P<0.05). In MTX combined with other DMARDs group (n=128) and other DMARDs combination without MTX group (n=90), the polymorphism in the ATIC gene was not associated with good clinical response and adverse events (P>0.05). Conclusion There is no statistical significant difference between RA and healthy controls in the ATIC347 gene. Polymorphism in the ATIC gene is not associated with clinical response to MTX treatment, but the ATIC347 G allele is associated with MTX toxicity. It maybe used to predict the adverse drug reactions of patients who take MTX.     

血清尿游离轻链检测在结缔组织病中的临床意义

目的探讨血清、尿游离轻链检测的临床应用。方法利用速率散射比浊法对临床确诊的45例结缔组织病(CTD)及43例多发性骨髓瘤(MM)患者血清和尿液中游离轻链进行测定。结果 CTD组血清与尿κ型轻链含量明显低于κ型MM组(P<0.05),CTD组血清与尿λ型轻链含量亦明显低于λ型MM组(P<0.05);CTD组血清与尿κ/λ比值低于κ型MM组(P<0.05),高于λ型MM组(P<0.05)。45例CTD组血清轻链检测无一例表现为κ/λ比值失衡,而43例MM组中有41例表现为比例失衡。结论对免疫球蛋白明显升高的CTD,为了解是否同时存在MM,血清与尿κ、λ及κ/λ比值测定有临床应用价值。     

氨基咪唑氨甲酰转移酶基因多态性在类风湿关节炎患者甲氨蝶呤治疗中的研究

Objective To investigate the relationship between the single nucleotide polymorphism of aminoimidazole carbexamide ribonucleotide transformylase gene and the efficacy and toxicity of methotrexate treatment in rheumatoid arthritis. Methods Total of 359 patients with RA were divided into mono-therapy with MTX group, combination therapy with other DMARDs group and other DMARDs combination with no MTX treatment group. The clinical and laboratory measurements were evaluated before therapy and 12, 24 weeks after therapy. Efficacy (evaluated by ACR20) and side effects of the drugs were also assessed. Real-time fluorescent quantitative PCR was conducted to test ATIC 347C/G mutation in RA patients and 340 healthy controls. Results There was no statistical significant difference in 347 CC, CG, GG between RA patients and healthy controls. In the MTX mono-therapy group (n=107), 72% (n=77) there was no statistical significant difference in 347CC, CG, GG between patients with good response and patients without efficacy. 32.7%(n=35) of these patients experienced adverse drug reactions. The ATIC G allele carriers (22.4%) experienced a greater frequency of side effects than the CC carriers (OR=2.672, 95%CI, 1.27～5.59, P<0.05). In MTX combined with other DMARDs group (n=128) and other DMARDs combination without MTX group (n=90), the polymorphism in the ATIC gene was not associated with good clinical response and adverse events (P>0.05). Conclusion There is no statistical significant difference between RA and healthy controls in the ATIC347 gene. Polymorphism in the ATIC gene is not associated with clinical response to MTX treatment, but the ATIC347 G allele is associated with MTX toxicity. It maybe used to predict the adverse drug reactions of patients who take MTX.     

G－CSF测定在新生儿疾病诊断中的应用

应用ＥＬＩＳＡ法对本科住院的１０５例新生儿进行了粒细胞集落刺激因子（Ｇ－ＣＳＦ）的检测。结果为６０例细菌感染性疾病的新生儿Ｇ－ＣＳＦ阳性检出率为９９％，２５例非细菌感染的新生儿Ｇ－ＣＳＦ阳性率为８％，２０例正常新生儿Ｇ－ＣＳＦ检测全部为阴性。表明Ｇ－ＣＳＦ检测可用于新生儿感染性疾病的鉴别诊断，并对临床应用抗生素有较大的指导意义。     

强直性脊柱炎合并急性髓细胞白血病2例

例1,女,48岁,系关节肿痛伴腰痛20余年,头晕、乏力半月于2011年8月7日入院。患者20多年前开始出现左膝、左踝及左中指关节肿痛,并交替出现右膝、右踝关节肿痛,数年后出现腰痛伴晨僵现象,活动后可以减轻,就诊当地医院,诊断为强直性脊柱炎(ankylosing spondylitis,AS),不规则服用止痛药、甲氨蝶呤、雷公藤等。4月前患者症状加重,查血     

氨基咪唑氨甲酰转移酶基因多态性在类风湿关节炎患者甲氨蝶呤治疗中的研究

目的 探讨类风湿关节炎(RA)患者氨基咪唑氨甲酰转移酶(ATIC)基因347C/G(rs2372536)单核苷酸多态性(SNP)与甲氨蝶呤(MTX)疗效和不良反应的相关性.方法 收集RA患者359例,分为单用MTX组、MTX联用其他改善病情药(DMARDs)组、非MTX的DMARDs组,于治疗前和治疗后12、24周检查患者临床及实验室指标,评价疗效(采用ACR20)及不良反应.采用实时荧光定量聚合酶链反应(PCR)法检测RA患者及340名健康对照组的ATIC基因C347G多态性,比较2组间基因型分布及等位基因频率.结果 RA与健康对照组ATIC基因347C/G基因型分布频率差异无统计学意义(P>0.05).单用MTX治疗组的有效率为72%(77/107例),有效组ATIC 347CC,CG,GG基因型与无效组间差异无统计学意义(P>0.05),不良反应发生率为32.7%,且携带ATIC G等位基因型患者的不良反应发生率(22.4%)明显高于CC基因型组(10.3%)(OR=2.67,95%可信区间为1.27～5.59),差异有统计学意义(P<0.05).MTX联用其他DMARDs(128例)组及非MTX的DMARDs组(90例),ATIC基因多态性与其疗效及不良反应无关(P>0.05).结论 ATIC基因347C/G多态性在RA患者与健康对照组间差异无统计学意义;与MTX治疗RA的疗效无明显相关性,但ATIC G等位基因与MTX的不良反应密切相关.因此ATIC基因347C/G多态性可能作为患者使用MTX的出现不良反应的预测指标.     

急性早幼粒细胞白血病合并遗传性纤维蛋白原缺陷症一例并文献复习

目的:提高对遗传性纤维蛋白原缺陷症的认识。方法:回顾性分析安徽医科大学第二附属医院2018年12月收治的1例急性早幼粒细胞白血病（APL）合并遗传性纤维蛋白原缺陷症患者的诊疗过程，并复习相关文献。结果:患者初诊确诊为APL，给予全反式维甲酸和亚砷酸双诱导治疗后获得完全缓解，但在第1次巩固治疗期间多次复查纤维蛋白原波动于1.0~1.5 g/L，进一步完善纤维蛋白原基因测序，诊断为APL合并遗传性纤维蛋白原缺陷症。结论:对于多次检测纤维蛋白原均下降的APL缓解期患者和短期内纤维蛋白原显著降低的遗传性纤维蛋白原缺陷症患者，均应进一步完善骨髓穿刺、基因检测等相关检查明确病因。     

氨基咪唑氨甲酰转移酶基因多态性在类风湿关节炎患者甲氨蝶呤治疗中的研究

Objective To investigate the relationship between the single nucleotide polymorphism of aminoimidazole carbexamide ribonucleotide transformylase gene and the efficacy and toxicity of methotrexate treatment in rheumatoid arthritis. Methods Total of 359 patients with RA were divided into mono-therapy with MTX group, combination therapy with other DMARDs group and other DMARDs combination with no MTX treatment group. The clinical and laboratory measurements were evaluated before therapy and 12, 24 weeks after therapy. Efficacy (evaluated by ACR20) and side effects of the drugs were also assessed. Real-time fluorescent quantitative PCR was conducted to test ATIC 347C/G mutation in RA patients and 340 healthy controls. Results There was no statistical significant difference in 347 CC, CG, GG between RA patients and healthy controls. In the MTX mono-therapy group (n=107), 72% (n=77) there was no statistical significant difference in 347CC, CG, GG between patients with good response and patients without efficacy. 32.7%(n=35) of these patients experienced adverse drug reactions. The ATIC G allele carriers (22.4%) experienced a greater frequency of side effects than the CC carriers (OR=2.672, 95%CI, 1.27～5.59, P<0.05). In MTX combined with other DMARDs group (n=128) and other DMARDs combination without MTX group (n=90), the polymorphism in the ATIC gene was not associated with good clinical response and adverse events (P>0.05). Conclusion There is no statistical significant difference between RA and healthy controls in the ATIC347 gene. Polymorphism in the ATIC gene is not associated with clinical response to MTX treatment, but the ATIC347 G allele is associated with MTX toxicity. It maybe used to predict the adverse drug reactions of patients who take MTX.     

1例服用他巴唑患者出现抗中性粒细胞胞浆抗体阳性病例报告

患者女,17岁,因腹泻20余日,多关节痛6日于2008年7月收住。既往于2008年5月自感乏力,心悸,手抖,体重下降,在外院诊断为甲状腺功能亢进,口服MMI30mg/d×1月。病程中无咳嗽、咳痰、咯血。入院时体检:神清,眼裂稍宽,甲状腺Ⅱ度肿大,质软,心率120次/分,律齐,双手细震颤,双肩、双踝关节及左腕关节、右手第二掌指关节肿胀(-),压痛(+)。患者入院后查血、尿、大便常规正常,肝、肾功能、补体、全胸片均正常。血沉37mm/h,C反应蛋白(CRP)34.11mg/L,游离T3、T4明显升高,TSH下降。甲状腺过氧化物酶抗体(ATA):114IU/ml(参考值<35IU/ml),抗甲状腺球蛋白抗体(ATG):65.9IU/ml(参考值<40IU/ml)。患者甲状腺功能亢进诊断明确,入院时因关节痛,并有腹泻史,ESR和CRP升高,考虑反应性关节炎可能,予以非甾体抗炎药(NSAIDs)治疗,仍诉关节肿痛,进一步检测抗核抗体(ANA)1∶320核仁型,P-ANCA阳性(滴度1∶40),髓过氧化物酶(MPO)阳性,24小时尿蛋白定量:0.14g。结合发病前1月服用MMI,考虑抗甲状腺药物引起的ANCA相关性血管炎...