Duchenne／Becker肌营养不良症基因缺失的检测及缺失类型与临床？…

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－     

儿童急性白血病p16基因的缺失和突变及其意义

目的 探讨Ｐ１６基因缺失、突变在儿童急性白血病发病中的意义。方法 选择白血病初治儿５１例，取其骨髓或外周血标本抽提ＤＮＡ，进行差异聚合酶链反应（Ｄ－ＰＣＲ）和单链构象多态性聚合酶链反应（ＳＳＣＰ－ＰＣＲ）的检测。结果 （１）儿童急性淋巴细胞白血病（ＡＬＬ）Ｐ１６基因外显子１、外显了２和外显子３的缺失率分别为３２％（１２／３８）、４４％（１２／４２）。（２）无一例发生基因突变。（３）急性非细胞性白血     

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

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...     

Becker肌营养不良并发关节炎期间CK水平转为正常一例报告

［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…     

载脂蛋白E基因多态性对新生儿血脂水平的影响

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     

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 …

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     

急性淋巴细胞白血病微小残留病的检测及临床意义

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。     

流式细胞仪分析儿童急性淋巴细胞白血病免疫表型63例

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     

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

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％     

儿童期脊肌萎缩症的基因诊断及产前基因诊断

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。     

Pediatric RadiologyContinuing Medical Education Activity

Pediatric Radiology CME Activity

Pediatric Radiology Continuing Medical Education Activity     

NeOProM: Neonatal Oxygenation Prospective Meta-analysis Collaboration study protocol

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.     

Concentrations of LTB4, LTC4, LTD4 and LTE4 in bronchiolitis due to respiratory syncytial virus

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.