解剖型钢板治疗肱骨远端粉碎性骨折

目的：探讨解剖Ｙ型钢板的临床应用价值。方法：报告３６例解剖Ｙ型钢板内固定肱骨远端粉碎性骨折,进行临床分析讨论,其中列,女８例,平均年龄３６．８岁。３６例中均行肘后标准切口尽骨鹰嘴截骨暴整个肱骨远端,Ｙ型钢板、螺钉内固定。结果：本组随访１～５年,其中优良率８６．２％。结论：解剖Ｙ型钢板治疗治疗肱骨远端粉碎骨折,效果确切,术后有利早期活动关节,减少并发症。     

46,XY gonadal dysgenesis associated with congenital nephrotic syndrome and sepsis

The occurrence of nephrosis in the first 3 months of life is rare and is termed ’congenital nephrotic syndrome.’ The congenital nephrotic syndrome is a group of heterogeneous diseases with a clinical course that differs markedly from the childhood nephrotic syndrome. The coexistence of a congenital nephrotic syndrome and gonadal dysgenesis in a 46,XY karyotype with normal female external genitalia is extremely rare. Frequent severe infections are often seen in the Finnish type, but sepsis leading to death is rare in the neonatal onset of gonadal dysgenesis. This report describes an unusual case of complete XY gonadal dysgenesis in a 46,XY female neonate with the congenital nephrotic syndrome and overwhelming sepsis. Received: 4 January 1999 / Revised: 24 May 1999 / Accepted: 25 May 1999     

视紫红质基因型与视网膜色素变性临床表型相关性的初步研究

目的:对国人视网膜色素变性(retinitis pigmentosa RP)患者中视紫红质基因不同突变与临床表型相关性进行初步研究。方法:对经异源双链-SSCP和序列分析确定为视紫红质基因不同位点突变的3例RP患者,收集其详细临床资料,比较其异同。结果:详细描述了3例已知突变患者的临床表现。视紫红质基因不同位点突变,临床表现不尽相同,发生在杆细胞外节胞液侧的突变,常导致严重类型的Ⅰ型视网膜色素变性;而发生在杆细胞外节盘膜内的突变,常引起相对较轻的Ⅱ型视网膜色素变性。结论:本文3例视紫红质基因不同位点突变与临床表型有一定关系,但要建立基因突变与表型间确切的对应关系和规律,尚需积累更多病例资料进一步分析研究。眼科学报1999;15:204-206。     

Pharmacokinetics of hydralazine and its acid-labile hydrazone metabolites in relation to acetylator phenotype

The pharmacokinetics of hydralazine (H) and its acid-labile hydrazone metabolites were compared in rapid and slow acetylators. Following a 20-mg intravenous infusion, the elimination half-life (t_1/2) and the apparent volume of distribution of H did not differ between the two groups. Plasma clearance estimates approached hepatic blood flow. When a single 100-mg dose of H was given-orally, the area under the plasma concentration-time curve (AUC) and systemic availability () in slow acetylators were, on the average, twice as high as in the rapid acetylators, indicating a difference in the extent of first-pass metabolism of the drug. Furthermore, the observed in the slow individuals exceeded theoretical predictions. Hence saturation of first-pass metabolism of H is suggested, and a nonlinear relationship between AUC and oral dose of H was indeed observed in the three subjects studied with two doses. The half-life of decline of the acidlabile metabolites was similar to the t_1/2 of H. The AUCs for metabolites were 4–12 times larger than for the parentdrug. However, the ratio between the metabolite AUC and drug AUC did not differ irrespective ofroutes of administration or the acetylator status.This study was supported in part by Grant RR 828 from United States Public Health Service and a Research Starter grant from the Pharmaceutical Manufacturers Association Foundation, Inc. (D. D. S.).     

Influence of acetylator phenotype on the pharmacokinetics of a new vasodilator antihypertensive,endralazine

Summary Five and 10 mg single oral doses of a new vasodilator antihypertensive, endralazine (E) were given on separate occasions to 17 normal male volunteers (8 slow, 7 heterozygous fast and 2 homozygous fast acetylators). The homozygous fast acetylators were excluded from statistical comparisons. Only small differences were observed in the pharmacokinetics of E between the phenotypes and there was no evidence of non-linearity at the 2 dose levels studied. Terminal half-lives ranged from 2.59 to 7.14 h with a mean of 4.30±1.08 h for the 5 mg dose and 4.25±1.09 h for the 10 mg dose. There was no significant difference in half-lives between slow and heterozygous fast acetylators. The mean area under the plasma level-time curve (AUC ₀ ) was 18.2% lower (p<0.05) in the heterozygous fast acetylators than in the slow acetylators following the 5 mg dose and 11.0% lower (p>0.05) following the 10 mg dose. Extremely rapid absorption of the drug precluded accurate estimation of absorption rates. The AUC ₀ of the acetylation metabolite (methyltriazoloendralazine) was small compared to that of E although higher in the heterozygous fast acetylators than in the slow acetylators (p<0.01).     

分泌性中耳炎咽鼓管及鼓室黏膜的光镜及电镜观察

目的：探讨分泌性中耳炎的发病原因，为临床治疗提供理论依据。方法：通过微波烧灼双侧咽鼓管口，建立分泌性中耳炎动物模型。光镜观察比较咽鼓管管腔及黏一软骨膜和鼓室黏膜变化。电镜观察咽鼓管鼓室段暗颗粒分泌细胞及其表面活性物质样板层体的变化。结果：各组咽鼓管管腔通畅，咽鼓管黏一软骨膜不易受炎症浸润及负压影响。鼓室黏膜水肿、增生、炎性细胞浸润明显，暗颗粒细胞分泌功能受损，表面活性物质板层体结构明显减少或消失。结论：咽鼓管黏一软骨膜在分泌性中耳炎发病过程中起重要作用。表面活性物质减少与分泌性中耳炎的发生密切相关。     

肺癌患者外周血T淋巴细胞亚群变化及其临床意义

[目的]检测肺癌患者T淋巴细胞亚群变化.[方法]采用SAP法检测42例肺癌患者及20例正常对照组的外周血T淋巴细胞亚群,并将肺癌中转移组和未转移组分别与正常对照组进行比较.[结果](1)肺癌转移组CD3 、CD 4阳性率低于未转移组(P＜0.05),CD 4/CD 8比值比正常组及未转移组低(P＜0.05).(2)未转移组CD 8低于正常组及转移组(P＜0.05).[结论]肺癌患者细胞免疫功能低下,并且细胞免疫功能随病情进展逐步受到抑制.     

A Family Study of Autism: Cognitive Patterns and Levels in Parents and Siblings

First-degree relatives of 99 autism probands and of 36 Down's syndrome controls were assessed with standardised tests of intellectual functioning, reading, and spelling. Higher mean verbal IQ scores, and discrepancies in favour of verbal scores, were characteristic of autism relatives. No consistent differences were found on performance scales, reading, and spelling tests. Among autism relatives, siblings affected with the broad phenotype of autism had significantly lower IQ scores and poorer reading and spelling performances than unaffected siblings. However, the small size of the cognitive difference and the lack of a distinctive cognitive profile indicates that standardised cognitive measures used in this study are unlikely to improve the operationalised definition of the broad phenotype of autism. The slightly superior verbal performance of relatives in the autism group might represent some form of heterozygote advantage.     

Phenotypic shift in human differentiated gastric cancers from gastric to intestinal epithelial cell type during disease progression

Background. The phenotypic expression of tumor cells is widely thought to resemble that of the tissue of origin. In the present study, to assess phenotypic changes that occur with disease progression, we investigated human differentiated gastric cancers at different depths of invasion for component cancer cell types. Methods. Using a combined mucin histochemical and immunohistochemical approach, we classified surgical specimens of 301 differentiated gastric cancers into three types: gastric epithelial cell (G) type, intestinal epithelial cell (I) type and mixed gastric and intestinal (GI) type, according to the phenotypic differentiation of the component cancer cells. The relation between the phenotypic type of cancer and their depth of invasion was evaluated. Results. The proportion of G type cancers was 41.4% in early (tumor invasion of mucosa or submucosa) cases, decreasing to 22.2% in advanced (tumor invasion of muscularis propia or deeper) cases, whereas the proportion of I type cancers increased with progressive disease from 23.5% to 31.1% (P < 0.01). Cancers invading the subserosa or deeper included more I type cases and fewer G type than cancers limited to the mucosa (P < 0.01). In most cases of each phenotypic type, intestinal metaplasia was recognized in the surrounding background mucosa, but no clear relation was shown between the phenotype of cancers and the degree of intestinal metaplasia in the background mucosa, suggesting that intestinal metaplasia is not always a preneoplastic lesion. Conclusions. A phenotypic shift from G to I type expression was observed with the progression of human differentiated gastric cancers. Intestinalization may occur independently in cancerous and noncancerous gastric mucosa. Received for publication on May 1, 1998; accepted on Oct. 22, 1998     

细胞色素氧化酶CYP3A4基因突变与表型研究进展

细胞色素P4503A4在许多内源性及外源性化合物的氧化及还原代谢中起关键作用，对CYP3A4基因表达的研究具有重要意义。本文对CYP3A4基因突变及其表型特征加以总结。