共查询到20条相似文献,搜索用时 46 毫秒
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目的 了解Duchenne/Becker肌营养不良症基因缺失的分布及其与其与表型的关系。方法 采用18对的多重聚合酶链反应分两步对96例DMD/BMD进行筛查。结果 用第一组引物检出49例缺失,第二组引物检出11例缺失,分别占全长cDNA地检出缺失的79%和18%,两组引物检出缺失的总和占全部缺失的97%。60例缺失中,DMD42例,中间型3例,BDM13例,未分类2例。43例缺失分布于外显子4- 相似文献
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34例假肥大型肌营养不良的基因缺失与智能障碍的相关分析吴保仁谭庆荣宋林琳作者单位:710032西安,第四军医大学西京医院神经内科假肥大型肌营养不良(Duchenne/Beckermusculardystrophy,DMD/BMD)是临床上常见的一种X... 相似文献
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[英]/Maegaki Y…//Neurology.-1999,52(2).-172~174Duchenne肌营养不良和Becker肌营养不良(BMD)均系抗肌萎缩蛋白基因在Xq21位点上的变异所引起的遗传性疾病,临床上以肌无力进行性加重为特点.尽管与基因缺陷或不足有关,但引起肌纤维变性的机制尚不清.报告1例发生一过性关节炎的BMD病人,可能炎性细胞因子参与作用.此期间血清肌酸激酶(CK)正常,血清炎性细胞因子及其抑制因子水平增高。病例男性,12岁。因关节炎、低热、皮疹而入院。3岁患BMD,血清… 相似文献
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本文检测了44例足月新生儿脐血血脂水平,并应用PCR方法检测了载脂蛋白E(apoE)基因多态性,结果发现,新生儿apoE基因表型E3/2,E3/3,E4/3频率分别为0.091,0.727,0.182,等位基因ε2,ε3,ε4频率分别为0.045,0.864,0.091,apoE表型间各血脂水平虽无统计学差异,但血清TC,LDL-c,apoB及apoB/A1水平按E3/2,E3/3,E4/3顺序逐 相似文献
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弓形体,人巨细胞病毒和人微小病毒B19感染对新生儿畸形和生长发 … 总被引:1,自引:0,他引:1
探讨弓形体(TOXO)人巨细胞病毒(HCMV)及人微小病毒B19(HP-VB19)对新生儿畸形及生长发育的影响。采取聚合酶链反应技术对42例畸形新生儿进行了TOXO-DNA,HCMV-DNA和HPVB19-DNA的检测,并对检测阳性与阴性畸形新生儿,用标准差记分法(SDS)衡量生长发育。PCR检测阳性率为18/42(42.88%),中枢及心血管系统畸形阳性率为12/18(66.67%),其他系统畸 相似文献
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急性淋巴细胞白血病微小残留病的检测及临床意义 总被引:3,自引:0,他引:3
采用IgH和TcRy基因重排两个标志相结合的方法,通过聚合酶链反应(PCR)检测微小残留病(MRD)。18例急性淋巴细胞白血病(ALL)患儿在终止治疗后有9例检出MRD。受检病例在检测后随访1.5~102个月,结果9例MRD阳性者有3例于3~6个月内复发;而MRD阴性的9例无1例复发,提示治疗终止后仍存在MRD者以后有复发的危险,应进行定期监测;MRD阴性可作为临床停药观察的一个客观指标。该方法检测MRD简便、阳性率较高,适于临床应用。 相似文献
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流式细胞仪分析儿童急性淋巴细胞白血病免疫表型63例 总被引:2,自引:0,他引:2
为了了解儿童急性淋巴细胞白血病的免疫表型,应用一组单克隆体及流式细胞仪间接免疫荧光法对63例初治儿童急性淋巴细胞白血病(ALL)免疫分型,T淋巴细胞、B淋巴细胞型、T/B混合型及裸核ALL分别为41.3%、46%、9.5%、3.2%,髓系抗原(My)及CD34表达率为17.4%和28.5%,My^+ALL中CD34表达为54.5%,显著高于MyALL(23.3%),T/B混合型ALL对My及CD3 相似文献
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血管紧张素转移酶基因插入/缺失多态性与儿童哮喘的关系 总被引:2,自引:0,他引:2
目的 探讨血管紧张素转移酶(ACE)基因插入/缺失多态性与儿童哮易感性的关系。方法 应用聚合酶链反应方法检测52例哮喘患儿,54例肺炎患儿及40例正常儿童的ACE基因型。用呼气峰速仪测定23例哮喘患儿的最大呼气流量作为评价肺功能的指标。结果 三组儿童ACE基因型(Ⅱ型、ED型、DD型)频率的分布差异有显著意义(P〈0.05),哮组DD基因和正常组比较,DD与正常组(12.5%)和肺炎组(14.8% 相似文献
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儿童期脊肌萎缩症的基因诊断及产前基因诊断 总被引:7,自引:0,他引:7
为建立脊肌萎缩症(SMA)产前诊断方法,应用3个与SMA基因紧密连锁的CA重复序列位点JK53CA1/2、5DS637、CATT1,对18个SMA家系进行了连锁分析;应用聚合酶链反应-单链构型多态性(PCR-SSCP)分析,对37例SMA患儿作了SMA基因缺失的检测;并作2例SMA产前诊断。结果:18个家系通过JK53CA1/2位点诊断12个(可诊断率66.7%),通过5DS637位点诊断14个(7.8%),10个SMA家系通过CATT1位点诊断9.5个(95.0%);37例患儿中32例(86.5%)有端粒侧exon7的纯合性缺失;2例接受产前诊断者,1例胎儿患病,1例胎儿为正常。结论:应用SMA基因旁侧CA重复序列联合PCR-SSCP检测进行SMA基因诊断和产前诊断简便、准确、可应用于临床。 相似文献
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《Pediatric radiology》2011,41(4):545-546
Pediatric Radiology CME Activity
Pediatric Radiology Continuing Medical Education Activity 相似文献15.
Castillo L 《Pediatric blood & cancer》2008,51(5):710; author reply 710-710; author reply 711
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Lisa M Askie Peter Brocklehurst Brian A Darlow Neil Finer Barbara Schmidt William Tarnow-Mordi The NeOProM Collaborative Group 《BMC pediatrics》2011,11(1):6
Background
The appropriate level of oxygenation for extremely preterm neonates (<28 weeks' gestation) to maximise the greatest chance of survival, without incurring significant morbidity, remains unknown. Infants exposed to lower levels of oxygen (targeting oxygen saturations of <90%) in the first weeks of life are at increased risk of death, cerebral palsy, patent ductus arteriosus, pulmonary vascular resistance and apnoea, whilst those maintained in higher levels of oxygen (targeting oxygen saturations of >90%) have been reported to have greater rates of morbidity including retinopathy of prematurity and chronic lung disease. In order to answer this clinical dilemma reliably, large scale trial evidence is needed. 相似文献17.
R. Garofalo R. C. Welliver P. L. Ogra Dr. Robert Welliver 《Pediatric allergy and immunology》1991,2(1):30-37
Fifty-five infants with bronchiolitis due to respiratory syncytial virus were evaluated for the presence of leukotriene B4 , C4 , D4 and E4 in nasopharyngeal secretions. An attempt was made to correlate concentrations of leukotrienes to arterial oxygen tension. Forty participants received conventional therapy consisting primarily of aerosolized albuterol and occasional aminophylline therapy. The other 15 individuals received ribavirin therapy in addition to conventional therapy, and leukotriene concentrations were compared among individuals in these groups. RSV infection was documented by standard methods, and leukotrienes were measured by reverse-phase high pressure liquid chromatography. The leukotriene detected most commonly was LTC4 (up to 83% of subjects); LTD4 and LTB4 were present in approximately 30% of individuals. The mean partial pressure of oxygen was found to be lower in those individuals with detectable LTB4 than in those without detectable LTB4 (p < 0.025), and an overall inverse correlation of LTB4 concentrations with initial pO2 values was observed (r = 0.318, p < 0.05). The presence and quantity of other leukotrienes did not correlate with the severity of illness. During the first week of illness, the concentration of leukotrienes declined sharply in ribavirin recipients. Individuals receiving conventional therapy during the same time interval exhibited stable or increasing leukotriene concentrations. These observations suggest that LTB4 may be important in the pathogenesis of bronchiolitis, and that ribavirin therapy may inhibit leukotriene release in the respiratory tract. 相似文献
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