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.     

高血压病患者动态脉压与左心室肥厚的关系

OBJECTIVE: To evaluate the relationship between the left ventricular hypertrophy (LVH) and the ambulatory pulse pressure and aortic root dimension (AOD) in essential hypertensive patients. METHODS: We monitored the 24-hour ambulatory blood pressure and applied echocardiography in 107 essential hypertensive patients. Using the left ventricular mass index (LVMI) as an index in evaluating LVH, the patients were divided into 2 groups: 29 cases in the LVH group and 78 in the non-LVH group. RESULTS: The average levels of 24-hour pulse pressure, daytime pulse pressure, nighttime pulse pressure and AOD were significantly different between patients with LVH and without LVH (P < 0.05). Multiple stepwise regression analysis showed that the changes in nighttime pulse pressure and AOD were closely related to LVMI (P < 0.001). CONCLUSION: The pulse pressure and AOD are important factors leading to LVH in patients with essential hypertension.     

Lecithin vesicles for topical delivery of diclofenac.

Skin penetration of topically applied diclofenac is important for the treatment of rheumatic diseases and actinic keratoses. We have studied the permeation of diclofenac across human cadaver epidermis in-vitro from four lecithin vesicle formulations and a few marketed semi-solid preparations. The lecithin vesicle formulations were prepared by dissolving the lipid contents (lecithin and sodium cholate) in a 1:1 mixture of methanol-chloroform, evaporating the solvents under vacuum, and hydrating the lipid layer with the drug solution in water or 10% ethanol. The vesicles were sonicated for 5 min to reduce the vesicle size and their size and Zeta potential were characterized. The cumulative amount and maximum flux of diclofenac was 69.7+/-40.3 micrograms and 4.77+/-3.16 micrograms/hcm(2) from lecithin vesicles containing sodium cholate and 10% ethanol, and is the highest of all formulations studied. The cumulative amount and mean maximum flux obtained from other formulations were in the range of 2.46+/-1.98-29.9+/-10.1 micrograms and 0.53+/-0.46-3.61+/-0.86 micrograms/hcm(2). Based on the results, lecithin vesicles of diclofenac appear to be advantageous for the topical delivery of diclofenac.     

糖尿病患者超声乳化白内障吸除手术的临床观察

目的:探讨糖尿病患者进行超声乳化白内障吸除联合人工晶状体植入手术的临床效果。方法:50例(61只眼)糖尿病患者(设为A组)和同期163例(174只眼)血糖正常患者(设为B组)接受超声乳化白内障吸除联合人工晶状体植入手术。糖尿病患者手术前通过饮食疗法、口服药物或肌注胰岛素治疗,使空腹血糖降到 10mmol/L以下。术后随访 1～28个月(平均 8.6个月),复查视力、裂隙灯及眼底检查。结果:术后矫正视力≥0.5者,A组为77.1%;B组为80.5%。两组经统计学处理差异无显著性(P>0.05)。两组术中出现后囊破裂及术后发生角膜水肿和前房渗出等并发症的差异无显著性(P>0.05 )。结论:糖尿病患者进行超声乳化白内障吸除手术前只要有效控制血糖,其手术效果与对照组患者相同。但术后血糖的控制仍然十分重要。眼科学报2003;19:98-100。     

Working‐correlation‐structure identification in generalized estimating equations

Selecting an appropriate working correlation structure is pertinent to clustered data analysis using generalized estimating equations (GEE) because an inappropriate choice will lead to inefficient parameter estimation. We investigate the well‐known criterion of QIC for selecting a working correlation structure, and have found that performance of the QIC is deteriorated by a term that is theoretically independent of the correlation structures but has to be estimated with an error. This leads us to propose a correlation information criterion (CIC) that substantially improves the QIC performance. Extensive simulation studies indicate that the CIC has remarkable improvement in selecting the correct correlation structures. We also illustrate our findings using a data set from the Madras Longitudinal Schizophrenia Study. Copyright © 2008 John Wiley & Sons, Ltd.     

创伤性肾动脉下腔静脉瘘封堵术1例

患者女,59岁,因“胸闷伴中上腹不适2月余”入院。患者进食后腹部不适加重,休息后可缓解。晨起脸部浮肿,活动后可消退,不伴有双下肢水肿。27年前因右肾结石行右肾切除术。查体:心浊音界增大,中上腹可闻及收缩期杂音。MRA显示右肾动脉与下腔静脉异常交通,右肾动脉远端瘤样扩张,下