多发性脂囊瘤患者角蛋白17基因突变的研究

目的 了解多发性脂囊瘤和角蛋白17基因异常的关系。方法 应用逆转录-聚合酶链反应及其产物直接测序,巢式聚酶链反应及限制性片段长度多态性分析。研究多发性脂囊瘤家系中患者患肿组织cDNA及外周血DNA的角蛋白17基因突变。结果 囊肿组织显示角蛋白17基因第94位密码子,428碱基发生C→A的突变,使原编码的氨基酸曲精氨酸变为半胱氨酸,即R94C的杂合突变。巢式聚合酶链反应后Acil限制酶谱多态性分析,显示患者多周血DNA标本均有一条突变等位基因缺乏该酶酶切位点,产生200bp的条带,另有一条野生型等位基因已被切开,形成2条带,分别为108bp,92bp,进一步证实R94C的突变,系杂合性突变,而正常人10人份及2000人份正常人DNAPool标本2条等位基因均有Acil的酶切位点,只显示108bp和92bp3条带。结论 角蛋白17基因R94C的突变,是导致中国人多发性脂囊瘤的遗传学基础之一。这一研究结果为该病的基因诊断及遗传咨询提供了科学依据。     

骶管内囊肿24例的影像学诊断和临床特点

目的：探讨骶管内蛛网膜囊肿的影像学和临床特点,以助于临床诊断,方法：观察24例经手术证实的骶管内蛛网膜囊肿患的X线片,CT,造影后CT,MRI等影像学资料中的影像改变,分析该组患的临床表现特点及手术中的病理特点,结果：X线片,CT,及MRI中均可显示出骶骨的骨性改变,造影后CT囊肿内造影剂显影,MRI可以清楚的显示出囊肿呈长T1及T2信号,信号强度与脑脊液一致,临床症状以骶管内神经受压表现为主,囊肿与硬膜囊一般有交通孔,结论：MRI是最好的影像学诊断方法;骶管内蛛网膜囊肿的发生是由于先天的硬膜缺损所致。     

Carnoy’s液和三氯乙酸对牙源性角化囊肿作用的实验研究

选择 2 8例确诊的牙源性角化囊肿 ,用Carnoy’s液和三氯乙酸处理 2 0min后 ,切取囊壁组织进行组织学、组织化学、酶组织化学、透射电镜等检查。结果显示角化囊肿囊壁上皮酶活性丧失 ,胶原纤维断裂 ,细胞核变性。说明Carnoy’s液和三氯乙酸破坏了囊壁活性 ,有助于减少角化囊肿术后复发。     

复发性甲状舌管囊肿(瘘管)的原因探讨和预防措施

目的：探讨甲状舌管囊肿（瘘管）术后复发的原因和提高手术疗效的措施。方法：对３２例甲状舌管囊肿（瘘管）病例（含８例术后复发者）,术前感染病例先行抗炎后再手术,准确判定甲状舌管囊肿与舌骨的关系,处理舌骨;术中衔注美蓝液入囊管内示踪,行Ｓｉｓｔｒｕｋ术式,分离小分支,以手术显微下失去示踪小支,手指接触诊疑为残存病灶处,行环形缝扎或电凝,射频等处理。结果：３２例均获成功,随访１年以上未见复发。结论：对甲状     

腹腔镜剥离卵巢子宫内膜异位囊肿92例分析

目的探讨腹腔镜下卵巢子宫内膜异位囊肿剥出术的可行性及技术要点。方法回顾性分析1995年5月～1999年5月施行的92例腹腔镜下卵巢巧克力囊肿剥出术的手术情况。结果92例患者按RAFS分期,Ⅲ期61％、Ⅳ期39％。手术均顺利完成,无中转开腹手术,平均手术时间62min,平均术中出血50ml,术后平均住院2．6d。病理均证实为卵巢子宫内膜异位囊肿。无术时术后并发症。结论对属于中、重度(Ⅲ、Ⅳ期)的卵巢子宫内膜异位囊肿进行腹腔镜下囊肿剥出术是安全可行的,应作为治疗的首选术式。在进行囊肿剥出前必须先分离卵巢与周围脏器的粘连,游离卵巢,为减少术后复发,应完全剥除囊壁,不缝合卵巢有利于减少术后粘连。     

显微手术治疗颅内蛛网膜囊肿

目的：探讨颅内蛛网膜囊肿的诊断及最佳治疗方案。方法：５０便均根据头颅ＣＴ和ＭＲ 诊蛛网膜囊肿后,行显微手术切除。结果：５０便手术治疗后,恢复良好,临床症状全部消失。结论：充分建立囊腔与周围池之间的 显向手术切除蛛网膜囊肿成功的关键。     

人芽囊原虫滋养体和包囊的形态学观察

用普通光学显微镜和荧光显微镜对人芽囊原虫的三株滋养体和二株包囊进行了形状、大小和结构的观察。滋养体为生长在ＬＡＳ双相培养基内４～５天的培养物;包囊为带虫者粪便经蒸馏水反复３次洗涤的沉淀物,均作涂片,分别以不染色、碘染色和１：１０＾４吖啶橙染色,镜下识别和鉴定,滋养体以空泡型（包括二分裂状态的）占多数,其次为变形型,颗粒型及其它类型少见,颗粒型为多分裂繁殖体,人芽囊原虫包囊形状较单一,都是圆形或卵圆     

Intramedullary epidermoid cyst. A case report

The authors add to the literature a case report of a 32-year-old man with an intramedullary epidermoid cyst at the level of D 3/4, that was successfully operated on. There are several previous reports in the literature, but only five of these include MRI studies.     

Glucocorticoids and androgens up-regulate the Zn-α2-glycoprotein messenger RNA in human breast cancer cells

Summary We have studied the hormonal regulation of the gene encoding Zn-₂-glycoprotein (Zn-₂-gp), a human protein with a high degree of amino acid sequence similarity to class I histocompatibility antigens that is produced by a specific subset of breast carcinomas. Northern blot analysis revealed that dexamethasone and 5-dihydrotestosterone strongly induced the accumulation of Zn-₂-gp mRNA in T-47D human breast cancer cells. Furthermore, the effect of these two hormones was shown to be additive, since the combination of both hormones produced a stimulation of Zn-₂-gp mRNA of at least 3-fold over that produced by either hormone alone. By contrast, the addition of 5-dihydrotestosterone, 17-estradiol, or progesterone failed to induce the expression of Zn-₂-gp. The stimulatory effect of glucocorticoids and androgens on Zn-₂-gp expression was produced in a time and dose dependent manner, without significantly affecting the cell proliferation rate. A time-course study demonstrated that the induction of Zn-₂-gp mRNA by androgens and glucocorticoids reached a level of 4 or 3.2-fold over the untreated control after seven days of incubation in the presence of a 10^–7 M concentration of 5-dihydrotestosterone or dexamethasone, respectively. A dose-response study showed that as little as 10^–11 M of 5-dihydrotestosterone or dexamethasone produced an accumulation of Zn-₂-gp mRNA of 2.4 or 2.1-fold over the control, respectively. On the basis of these results, we propose that Zn-₂-gp may be useful as a biochemical marker of breast carcinomas with a specific pattern of hormone responsiveness in whose development glucocorticoids and/or androgens may play a significant role.     

Single forebrain ventricle without prosencephaly: agenesis of the corpus callosum with dehiscent fornices

Coalescence of the cerebral ventricles with formation of a single forebrain ventricle is described in an unusual case of agenesis of the corpus callosum with dehiscent fornices and severe hydrocephalus. The cerebral hemispheres were fully cleaved. The detached fornices were widely separated from the thalami. The membrana tectoria was retroverted over the midbrain and cerebellum, where it joined the fornices and merged with a curved membranous ependymal dome which, at a great distance, circumvented the thalami as it extended toward the anterior commissure. Other anomalies included arhinencephaly, multiple subependymal heterotopias, and Dandy-Walker malformation. Similar malformations have been described as interhemispheric cysts, as (holo)prosencephaly, or as midline telencephalic dysgenesis. The basic features of prosencephaly and agenesis of the corpus callosum are reviewed and compared to the present case.