Normal obstetric ultrasound reduces the risk of Down syndrome in fetuses of older mothers

The objective of this study is to determine whether a normal fetal morphology ultrasound scan in women older than 35 years reduces the risk of aneuploidy. We reviewed the results of amniocentesis and second trimester sonogram in all women older than 35 years from 1991 to 1995. None had prior screening. We excluded fetuses with structural anomalies. We determined the sensitivity and specificity of minor markers in detecting Down syndrome and also determined the reduction in risk of a normal sonogram. Among the 2060 women older than 35 years giving birth during the study period, 16 (0.78%) delivered an infant with Down syndrome. Of the 16 fetuses, two had no prenatal testing or ultrasound, two had invasive testing but no second trimester sonogram, five had a normal sonogram and seven had one or more sonographic markers of Down syndrome. At least 17% of women older than 35 years did not participate in prenatal testing or ultrasound. Ultrasound detected Down syndrome with a sensitivity of 59% (95% confidence interval: 45–72%), a false‐positive rate of 10.6% (9.4–11.8%) and a positive predictor value of 1 in 9. The likelihood of having normal karyotype if the sonogram was normal was 0.46 (0.31–0.61). In women older than 35 years, a normal second trimester sonogram reduces the risk of Down syndrome by more than 50%. At least 17% of women older than 35 years do not participate in prenatal testing or ultrasound.     

对诊断PADAM的游离睾酮指数的评估

目的 评价诊断中老年男子部分雄激素缺乏综合征（PADAM）的游离睾酮指数（FTI）.方法 对129例45岁以上健康男性的FTI进行年龄相关分析.以推算的游离睾酮（CFT）值为依据,对FTI进行有效性检验.结果 男子在中老年期FTI与增龄呈明显的负相关.FTI敏感性97.78%,特异性58.33%.结论 计算简单的FTI可用于PADAM病人的筛选和随访,尤其对70岁以上男子是血清FT较为有效的参数.     

烧伤所致代谢紊乱的临床诊断与治疗

烧伤后机体应激导致代谢紊乱，表现为严重高分解代谢，机体损耗和抵抗力下降，严重影响患者预后。临床上主要采用生理营养指标、实验室诊断指标和能量消耗测定3类检测指标对机体代谢状况进行诊断评估，继而通过药物治疗结合非药物治疗手段加以调理支持，促进烧伤修复。目前，仍有多种诊断治疗方法尚未普及或有待完善。     

多层螺旋CT在胰腺癌诊断中的应用

多层螺旋CT（MSCT）使扫描速度，薄层，覆盖范围达到了很好的统一，是胰腺癌最佳的单项检查手段。本文介绍了MSCT运用于胰腺的技术优势以及具体检查方法，重点叙述其在胰腺癌的诊断，术前可切除性的评估等方面的应用。     

Prenatal diagnosis of Werdnig Hoffmann disease in China

Objective To establish a means for prenatal prediction of spinal muscular atrophy (SMA) through survival motor neuron (SMN) gene deletion analysis and genetic counseling in families with a child affected with SMA.
Methods Genetic analysis for prenatal prediction of Werdnig-Hoffmann disease was performed in a at risk Chinese family by polymerase chain reaction (PCR)-single-strand conformation polymorphism (SSCP) in SMN gene exons 7 and 8.
Results The pregnancy was positive for the homozygous deletion of the SMN gene, thus the fetus was diagnosed as being affected and the pregnancy was terminated.
Conclusion This approach is fast and reliable for DNA-based prenatal diagnosis of Werdnig-Hoffmann disease.     

Current concept and future research directions of mild cognitive impairment

Alzheimer's disease (AD) generally begins with mild memory problems which occur in an insidious manner and progresses to the development of multiple cognitive impairments. There is a ‘gray’ area between what is classified as ‘normal’ and what is classified as ‘dementia’, currently called mild cognitive impairment (MCI). In this article, a case of MCI is described, and the diagnosis, assessment, subclassification (pre‐Alzheimer type and white matter lesion type) and future therapeutic plans for MCI are reviewed.     

Cockett综合征的影像学诊断和介入治疗

目的探讨Cockett综合征影像学诊断和介入治疗方法。方法对20例Cockett综合征患者进行临床分析,其中13例行介入治疗术。结果下肢深静脉造影术能明确诊断Cockett综合征,13例患者经介入治疗后其临床症状体征均有不同程度的改善,临床疗效明显。结论介入治疗Cockett综合征,是一种简单、安全和有效的方法。     

羊水细胞培养进行脊肌萎缩症的产前诊断

目的 应用错配聚合酶链反应-限制性片断长度多态性（PCR-RFLP）方法进行脊肌萎缩症（spinal muscular atrophy,SMA)的产前诊断。方法 基于运动神经元生存基因（SMN）的两个同源拷贝碱基的差异，通过羊水细胞培养，应用错配PCR-RFLP法对2例有SMA阳性家族史的胎儿进行产前基因诊断。结果 2例均无SMN基因外显子缺失。结论 SMN基因缺失检测技术是高效、快速的SMA产前诊断的方法。