Completely covered cloacal exstrophy: recognition of a new clinical sub-entity

A case showing many of the typical visceral features of cloacal exstrophy is reported. The patient had fn imperforate anus, a cecal-cloacal fistula, dehiscence of the pubiic symphysis, and lumbosacral spina bifida with synsingomyelia, but the lower abdominal wall was intact without any visceral extroversion. The pertinent literature was reviewed, and it was found that this case corresponded to t typical case of completely covered cloacal exstrophy. Only six cases, including the present one, have so far been reported in the literature. From a clinical viewpoint, it apparently occupies an intermediate position in the wide spectrum of cloacal anomalies between classical cloacal exstrophy and imperforate anus with recto-cloacal fistula, but anatomatically and embryologically it is definitely a variant of cloacal exstrophy. In other words, it looks like an imperforate anus with recto-cloacal exstrophy, but should be treated as a variant of loacal exstrophy. The anatomy, classification, embryology, diagnosis, and management of this peculiar surgical condition are discussed, and recognition of this entity is urged.     

高位隐睾应用“长袢输精管”睾丸固定术12例报告

对于高位隐睾不能Ⅰ期手术降入阴囊者采用了“长袢输精管”固定术,共治疗12例17侧隐睾,16侧效果满意。随访中对睾丸部位、大小、弹性作了估价。认为手术成功的关键在于高位切断精索、保留输精管血管及睾丸引带侧支。     

中国汉族人群遗传性聋基因座位STR位点的遗传多态性研究

目的 研究中国汉族人群10个遗传性聋基因座位的短串连重复序列(STR)的遗传多态性。方法 应用PCR方法对10个位点进行扩增，变性聚丙烯酰胺凝胶电泳分离，记录基因型。采用PPAP软件计算正常人各STR位点等位片段频率、基因型频率、预期基因型频率、多态信息量(PIC)和Hardy-Weinberg平衡吻合性检验。结果 中国汉族人群D6S287、D8S1132、D13S1275、D15S130、D1S2726、D4S3038、D2S2380、D22S282、D14S1042、D7S529各位点分别检出10个、9个、8个、7个、7个、7个、6个、6个、6个及5个等位片段，多态性分布均符合Hardy-Weinberg平衡定律。各位点PIC值分别为0．879、0．854、0．864、0．821、0．686、0．794、0．764、0．732、0．773、0．712；杂合度均高于0．7。结论 中国汉族人群10个位点STR均具有较高的杂合度和多态信息量，是较理想的遗传标记。     

海洛因依赖者在第19、20、21和22号染色体上的易感基因位点的分析

目的:筛查海洛因依赖者在第19、20、21和22号染色体上的易感基因的位点.方法:对10例海洛因依赖者和其正常同胞对照者的第19、20、21和22号染色体进行以短串联重复序列(short tandem repeats,STR)为遗传标记的基因扫描分析.结果:D20S195和D22S423位点的等位基因在海洛因依赖组和其正常同胞对照组之间分布有显著性差异(P＜0.05),其它STR位点的等位基因在海洛因依赖组和其正常同胞对照组之间分布没有显著性差异(P＞0.05).结论:D20S195和D22S423位点附近可能存在海洛因依赖的易感基因.     

Jansen type of spondylometaphyseal dysplasia

Metaphyseal dysplasia, type Jansen (JMD), is a rare skeletal dysplasia with characteristic radiographic abnormalities. Of the various types of metaphyseal dysplasia, JMD shows the most severe alteration in metaphyseal architecture. All of the long tubular bones, including those of the hands and feet, show metaphyseal irregularity with a fragmented appearance and slight widening. The adjacent physes are abnormally widened, while the epiphyses tend to be slightly enlarged, rounded but otherwise normal. The spine in infancy and childhood usually appears normal. This report describes a young girl with metaphyseal changes typical of JMD except for the hands and feet, which appeared normal. She also showed very unusual abnormalities of the spine. This appears, therefore, to represent a unique osteochondrodysplasia for which we propose the term spondylometaphyseal dysplasia, type Jansen. Received: 4 April 1999 Revision requested: 6 April 1999 Revision received: 29 November 1999 Accepted: 1 December 1999     

工作场所空气中奥克托今高效液相色谱测定方法研究

目的：建立工作场所空气中奥克托今的高效液相色谱测定方法。方法：按照《工作场所空气中毒物检测方法的研制规范》的要求，进行实验室试验和验证试验及现场应用试验。结果：方法的检测限为0．81μg／ml（进样10μl洗脱液），最低检出浓度为0．017mg／m^3（以采集240L空气样品计）。当HMX含量为0—200．0μg／ml时，标准曲线线性关系良好。相关系数r=0．9999．高、中、低3个浓度的样品，6次重复测定，相对标准偏差为0．12％，1．30％，洗脱效率为94．88％～104．75％，方法的回收率为94．27％～102．05％，样品在室温至少可保存14d，奥克托今浓度为0．12，39，82mg／m^3，采样效率为91．20％～100．00％，工作场所空气中与奥克托今共存的三硝基甲苯、黑索今、二硝基甲苯，对奥克托今测定无干扰。结论：本方法各项指标达到《工作场所空气中毒物检测方法的研制规范》的要求，适用于工作场所空气中奥克托今的现场监测及样品纯度的检测。     

重组人粒细胞集落刺激因子对辐射诱发细胞恶性转化的影响

目的研究重组人粒细胞集落刺激因子(granulocyte colony-stimulatingfactor,G-CSF)对60Coγ射线诱发Wistar大鼠肺成纤维细胞恶性转化过程的影响。方法采用噻唑蓝(MTT)比色法、软琼脂克隆培养、流式细胞术(FCM)同时观察正常Wistar大鼠肺细胞、60Coγ射线照射细胞、经G-CSF预处理后60Coγ射线照射细胞、60Coγ射线照射后G-CSF持续处理细胞的增殖活性,克隆形成率和细胞周期的变化。结果G-CSF有抑制单纯照射细胞增殖的作用,使软琼脂克隆形成延迟,使进入细胞周期的细胞减少,细胞周期进程减慢。结论G-CSF能减缓细胞的恶性转化过程。     

荧光定量PCR产前快速诊断唐氏综合征可行性研究

目的建立快速高效的产前诊断唐氏综合征的分子生物学方法。方法分别在21号染色体上选取7个微卫星重复序列(SmallTandemRepeat,STR)(D21S1433,D21S1442,D21S1444,D21S1411,D21S1412,D21S1413,D21S1414)作为遗传标记,利用荧光定量PCR(QF-PCR)扩增技术及片段分析技术,对250例羊水标本进行检测,并与羊水标本染色体核型分析结果进行对比。结果250例羊水标本中,核型分析发现24例21三体,2例性染色体数目异常,24例唐氏综合征样本采用QF-PCR全部检出。224例正常羊水标本中,QF-PCR检出阴性标本223例,1例样本呈假阳性,假阳性率为0.4%,24例21三体标本中,七对引物同时检测诊断阳性率为100%。所有试验结果均在24h内得出。结论QF-PCR作为一种快速、准确、高效的分子生物学方法,对诊断唐氏综合征具有重要意义。     

安神调经针法治疗月经后期探析

心身疾病是当今医学亟待解决的课题.临床上大量月经后期的患者其发病与心理社会因素密切相关,属心身疾病的范畴.据此,笔者提出了月经调节的中医"心脑-肾气-天癸-冲任-胞宫轴"的新模式,并认为它与现代医学"大脑皮层-下丘脑-垂体-卵巢-子宫生殖轴"的神经内分泌调节系统极为相似.在此基础上创立了一套安神调经疗法.通过调整心脑功能,从而调节下丘脑-垂体-性腺轴,促进卵泡发育,治疗月经后期.并以此为突破点,为心身疾病引起的各种妇科病的针灸治疗提供了一种新方法、新思路.     

Population genetics of the hypervariable locus D12S391 in Koreans

The hypervariable short tandem repeat (STR) locus D12S391 was investigated in a Korean population and 34 fragments were sequenced to confirm the structure of alleles. From these sequenced fragments an allelic ladder containing 13 sequenced alleles was constructed. From 595 unrelated Koreans, 14 alleles were detected and one variant allele 19.3 was observed. The observed heterozygosity was 0.795 and no deviation from Hardy-Weinberg equilibrium was observed in the Korean population (p = 0.606). The allele frequency distribution in the Korean population was not similar to other racial or ethnic groups except for Egyptians, Yemenis, Japanese and Caucasoids from the Rhine area. No mutations were observed in the 702 meioses from 144 Korean families. This study demonstrates that the STR locus D12S391 is a useful tool for forensic identification and parentage testing. Received: 15 September 1999 / Accepted: 18 December 1999