Application of a closely linked polymorphism of restriction fragment length to counselling and prenatal testing in families with myotonic dystrophy

The close genetic linkage between the loci for apolipoprotein CII (ApoC2) and myotonic dystrophy makes ApoC2 the closest fully validated marker for prediction of myotonic dystrophy. Application to genetic counselling and presymptomatic and prenatal prediction is reported in seven families with myotonic dystrophy, including one case in which the disorder was excluded prenatally. Only one of the families did not have members with ApoC2 genotypes that allowed prediction, but careful clinical study of older family members was found to be an important factor. ApoC2 typing of families with myotonic dystrophy should be of practical help both in prediction for asymptomatic relatives and for prenatal diagnosis in pregnancies of an affected parent.     

Presymptomatic diagnosis of delayed-onset disease with linked DNA markers. The experience in Huntington's disease

Clinical medicine in the 21st century is almost certain to include wide-scale use of molecular genetic diagnostic tests. In September 1986, The Johns Hopkins University School of Medicine initiated a voluntary program of presymptomatic genetic testing for Huntington's disease for persons at 50% risk. DNA analyses using the D4S10 (G8), D4S43, and D4S95 locus probes have been performed for 55 people. Twelve of the tests have yielded positive results, 30 were negative, and 13 were uninformative. Initial reactions ranged from joy and relief to disappointment, sadness, and demoralization. Thus far, there have been no severe depressive reactions. Although the sample size is small, our data suggest that people who receive genetic test results cope well, at least over the short term, when the testing is performed in a clinical context that includes education, pretest counseling, psychological support, and regular follow-up.     

基因扫描微卫星DNA进行常染色体显性遗传性多囊肾病囊肿前诊断

目的；利用与多囊肾病PKD1基因紧密连锁的微卫星DNA，通过家系连锁分析，进行了常染色体显性遗传性多囊肾病（ADPKD）的囊肿前诊断，为临床分子诊断奠定基础。方法：采用PCR－基因扫描的方法，对4个ADPKD家系共39人进行了连锁分析。结果：通过连锁分析，发现4个家系中1名16岁个体为PKD1突变携带者，处于囊肿发生前期。结论：基因扫描微卫星DNA是一种快速，准确的基因分型方法，可用于ADPKD的囊肿前诊断。     

应用限制性差异显示技术制备实验用DNA标记物

目的 建立实验室用DNA标记物。方法 依据PCR引物设计软件Oligo5设计通用引物，对质粒DNA进行PCR。结果 通过PCR反应，电泳后可见清晰的DNA条带，将已确定长度的DNA片段再进行PCR反应，与商用DNA标记物进行比较显示，用此法制备的DNA标记物可以作为实验室进行凝胶电泳的DNA标记物。结论 采用限制性差异显示技术制备DNA标记物，不仅操作简便、快捷、提高工作效率，且大大降低费用，更适合实验室实际需要。     

强直性肌营养不良基因CTG数与心电图关系

目的 研究强直性肌营养不良（ＤＭ）的肌张力蛋白激酶（ＭＴ－ＰＫ）基因中三核苷酸ＣＴＧ（胞嘧啶、胸腺嘧啶、鸟嘌呤）重复数与ＤＭ病人心电图变化的关系。方法 用ＰＣＲ扩增及地高辛杂交法对５例临床诊断ＤＭ病人及其中２个家系的１５名成员进行ＭＴ－ＰＫ基因３＇端非编码区ＣＴＧ重复数检测,经ＤＭ基因诊断ＤＭ病人１６例,正常人４例,在检测基因时均作心电图检查。结果 １６例ＤＭ病人心电图异常率８１．２５％（１３例）     

心脏肌钙蛋白Ⅰ对急诊胸痛病人处理的价值

目的：研究床边肌钙蛋白Ｉ９ｃＴｎＩ）定性检测对急诊胸痛病人诊治的价值。方法：１２５例无ＳＴ段提高的急性胸痛病人，采用单克隆抗体感光技术行床边ｃＴｎＩ定性检测。受诊时及４小时后各测一次ｃＴｎＩ，胸痛不足２小时者在入院后６小时复测第三次，保证胸痛６小时内有一次血标本。且能将检测结果及时提供给值班医生。结果：ｃＴｎＩ阳性４０例（３２％）。其中有２２例临床确诊急性心肌梗死。４８例不稳定心绞痛病人，ｃＴ－ｎ     

Tightly linked DNA probe for presymptomatic diagnosis and carrier detection of Wilson disease]

Haplotype analysis of the polymorphic loci, D13S26 and retinoblastoma (RB) gene which were closely linked to the gene responsible for Wilson disease (WD), was carried out to predict the presymptomatic stage or to detect carrier status in phenotypically normal sibs in 9 Chinese families with WD syndrome. By analysis of D13S26/HphI and RB/XbaI sites, 72% parents in these families were haplotypically heterozygote and therefore informative for linkage study. In 9 phenotypically normal sibs in these families, presymptomatic status was predicted with 99.2% confidence in 1 and excluded in 4. In the other 4 cases, 2 were unpredictable and 2 were at least heterozygote and had 50% chance of being WD homozygote, depending on which chromosome they have got from their fathers.     

外参照PCR及其产物酶联杂交定量检测HBV DNA

建立一种敏感,特异和精确的乙型肝炎病毒（ＨＢＶ）基因ＰＣＲ及其产物的酶联杂交定量分析技术。方法：（１）常规ＰＣＲ法扩增ＨＢＶ ＤＮＡ质粒和血清ＨＢＶ ＤＮＡ,引物（ＳＰ１,ＳＰ２）为一对ＨＢＶ ＤＮＡ Ｓ区基因特异引物,扩增片段长３１９ｂｐ,ＳＰ２的５′端用生物素修饰。扩增条件经过严格优化组合,以最大限度减少非特异片段,包括引物二聚体产生。设定５个不同梯度的ＨＢＶ ＤＮＡ外参照管,制作标准曲线。（     

有机磷农药中毒早期呼吸支持

目的探讨急性有机磷农药中毒合并呼吸功能不全的呼吸机早期呼吸支持治疗的方法及效果。方法采用回顾性调查的方法对13例急性有机磷农药中毒合并早期呼吸功能不全患者的一般资料、常规治疗方法、呼吸支持的适应证及时机、人工气道的选择、呼吸机的参数调节等进行分析。结果所有患者全部治愈，无1例死亡。结论呼吸机早期呼吸支持，是抢救成功的关键之一。     

Choosing blindly but wisely: differentially private solicitation of DNA datasets for disease marker discovery

Objective To propose a new approach to privacy preserving data selection, which helps the data users access human genomic datasets efficiently without undermining patients’ privacy.Methods Our idea is to let each data owner publish a set of differentially-private pilot data, on which a data user can test-run arbitrary association-test algorithms, including those not known to the data owner a priori. We developed a suite of new techniques, including a pilot-data generation approach that leverages the linkage disequilibrium in the human genome to preserve both the utility of the data and the privacy of the patients, and a utility evaluation method that helps the user assess the value of the real data from its pilot version with high confidence.Results We evaluated our approach on real human genomic data using four popular association tests. Our study shows that the proposed approach can help data users make the right choices in most cases.Conclusions Even though the pilot data cannot be directly used for scientific discovery, it provides a useful indication of which datasets are more likely to be useful to data users, who can therefore approach the appropriate data owners to gain access to the data.     

计算机辅助教学用于医学寄生虫学教学改革的构思

21世纪需要高素质人才，为适应新世纪教改和培养高素质人才的需要，医学寄生虫学的教学现代化势在必行，现论述运用计算机辅助教学等现代教学手段改革医学寄生虫学教学的一些构思。     

孕妇血清中胎儿游离DNA产前筛查Down's综合征初探

目的应用TaqMan探针实时定量聚合酶链反应(Real-time quantitative PCR)技术检测孕妇血清中胎儿游离DNA含量,探讨以其含量变化作为Down's综合征产前筛查新指标的可行性.方法选择42例孕中期(16～19周)的妇女作为研究对象,其中7例为孕21三体男胎的妇女,18例为孕正常男胎的妇女,17例为孕正常女胎的妇女,提取其外周血血清中游离DNA,应用TaqMan探针实时定量聚合酶链反应技术检测Y染色体上的DYS14基因,以此确定母体血清中的胎儿游离DNA含量,并同时检测代表母体与胎儿总游离DNA的β-actin基因作为对照.结果孕21三体男胎组血清胎儿游离DNA含量明显高于孕正常男胎组,它们分别为94.5基因当量(genome equivalents,GE)/ml及42.8GE/ml(P《0.01),孕21三体男胎组血清中的胎儿游离DNA含量为孕正常男胎组的2.2倍.孕正常女胎组血清中未检测到Y-染色体上的DYS14基因.结论胎儿游离DNA可能成为产前筛查Down's综合征的候选指标.     

泄下法治疗黄疸探讨

中医对黄疸的认识和治疗有悠久的历史，具有丰厚的积淀，并形成一整套有效的治疗方法，泄下法是其中最常用的方法。现试从理论基础对此作一些有益的探讨。     

Visualisation of the Bonebridge by means of CT and CBCT

Background

With the Bonebridge, a new bone-anchored hearing aid has been available since March 2012. The objective of the study was to analyse the visualisation of the implant itself as well as its impact on the representation of the bony structures of the petrosal bone in CT, MRI and cone beam CT (CBCT).

Methods

The Bonebridge was implanted unilaterally in two completely prepared human heads. The radiological imaging by means of CBCT, 64-slice CT, 1.5-T and 3.0-T MRI was conducted both preoperatively and postoperatively. The images were subsequently evaluated from both the ENT medical and nd radiological perspectives.

Results

As anticipated, no visualisation of the implant or of the petrosal bones could be realised on MRI because of the interactive technology and the magnet artefact. In contrast, an excellent evaluability of the implant itself as well as of the surrounding neurovascular structures (sinus sigmoideus, skull base, middle ear, inner ear, inner auditory canal) was exhibited in both the CT and in the CBCT.

Conclusion

The Bonebridge can be excellently imaged with the radiological imaging technologies of CT and CBCT. In the process, CBCT shows discrete advantages in comparison with CT. No relevant restrictions in image quality in the evaluation of the bony structures of the petrosal bones could be seen.     

以应用促教育技术的发展

本文通过回顾本校电化教育的发展历程，说明教育技术要发展，必须在“用”字上下功夫。过去是这样，以后还将是这样。同时文章还介绍本校的一些经验和体会。     

First trimester prenatal diagnosis and detection of carriers of haemophilia A using the linked DNA probe DX13

Although the use of a gene specific deoxyribonucleic acid (DNA) probe is the method of choice for detecting carriers of genes for rare genetic disorders, there will always be families in which such probes cannot be used because key subjects are not informative for restriction fragment length polymorphisms in or around the gene. In these cases closely linked DNA markers have to be used. An X chromosome specific DNA probe, DX13, which is closely linked to the haemophilia A locus on the X chromosome, was used for early prenatal diagnosis in two cases and to detect carriers in a series of nine possible heterozygote women. The first reported crossover between DX13 and the factor VIII:C locus was observed in this study. There are complexities inherent in using any linked DNA probe for assignment of genes, but such techniques are clinically important.