Maternal sex chromosome mosaicism diagnosed by amniocentesis and percutaneous umbilical cord sampling

We present a remarkable chain of events in which percutaneous umbilical cord sampling was performed in an attempt to clarify a situation of possible fetal sex chromosome mosaicism in an amniotic fluid culture and led to the discovery that the mother herself had a 45,X/46,XX/ 47.XXX chromosome constitution. This may have simply represented the chance concurrence of pseudo-mosaicism in the amniotic fluid culture of a woman with an abnormal sex chromosome constitution, but it is also possible that the 45,X colony was maternal in origin. Although clearly a most unusual circumstance, the possibility should be kept in mind when termination of a pregnancy is being considered because of apparent mosaicism in a prenatal diagnostic study.     

制造抽油机驱动绳工艺探讨

着重介绍了冷挤压技术在制造抽油机驱动绳中的应用方法。同时解决了抽油机驱动绳不能同时受力 ;钢丝绳因加热而产生的局部材料内部组织变化造成驱动绳断裂等关键问题。     

Duplex PCR for preimplantation genetic diagnosis (PGD) of spinal muscular atrophy

The main difficulty in developing a molecular diagnosis of spinal muscular atrophy (SMA) resides in the specific genomic structure of the locus. Indeed, two highly homologous survival motor neurone genes, SMN1 and SMN2, are present at the locus. The detection of the homozygous deletion of exons 7 and 8 of the SMN1 gene, which is present in 90 to 98% of the patients, is based on methods highlighting 1 of the 8 nucleotidic mismatches existing between these 2 genes. In order to offer preimplantation genetic diagnosis (PGD) for SMA, we developed a new allele-specific amplification method. The main disadvantage of our previously described strategy resided in the possibility of diagnosing, in case of amplification failure, an unaffected embryo as affected. We present here a new PGD-SMA method. We established the conditions for three different duplex PCRs, allowing the specific detection of the SMN1 gene and one polymorphic marker, either D5S629, D5S1977, or D5S641. Of the 60 to 90 single cells tested, the PCR efficiency varied from 98 to 100% with a complete genotype obtained in a range between 81 and 87% with a global allele drop-out rate of 9%. Such a test was used to perform 1 PGD cycle for which 7 embryos could be analysed. All the embryos were fully diagnosed, six as unaffected and one as affected. Four embryos were transferred, but no pregnancy ensued. Copyright © 2003 John Wiley & Sons, Ltd.     

老年患者罗哌卡因与布比卡因蛛网膜下腔阻滞效果的比较

比较老年患者下肢手术罗哌卡因与布比卡因蛛网膜下腔阻滞效果．方法：择期骨科下肢手术的高龄病人80例,随机分为两组,R组（n=40）蛛网膜下腔注入5mg／ml罗哌卡因3ml,B组（n=40）蛛网膜下腔注入5mg／ml布比卡因3m1．采用针刺法评估感觉阻滞效果,记录感觉阻滞起效时间、运动阻滞起效时间、最高感觉阻滞平面、麻醉维持时间、术中麻醉质量与肌松效果及用药后的不良反应．结果：与B组比较,R组运动阻滞起效时间较长,运动阻滞和感觉阻滞维持时间较短（P〈0．05）;感觉阻滞起效时间差异无统计学意义（P〉O．05）;两组麻醉质量和肌松效果均较好,麻醉质量及肌松效果无统计学差异（P〉0．05）;两组不良反应发生率均较低,且差异无统计学意义（P〉0．05）．结论：老年病人下肢手术患者采用罗哌卡因蛛网膜下腔阻滞术中麻醉质量及肌松效果良好,且其运动阻滞维持时间较布比卡因短,有利于术后的恢复和功能锻炼．表4,参7．     

Prenatal demonstration of a cervical myelocystocele

Myelocystocele is a rare spinal cord disorder and has not been described prenatally. We report a case in which prenatal ultrasound and magnetic resonance imaging (MRI) demonstrated a posterior cervical mass which was initially thought to be a meningocele or an atypical cystic hygroma. Surgery performed at 1 day of age showed this to be a myelocystocele. Therefore, the differential diagnosis of an extracranial cystic mass in the posterior cervical region should be expanded to include myelocystoceles.