脆性X染色体综合征家系遗传学分析

对一个脆性X染色体阳性家系进行了调查,用缺叶酸培养基(TC199)检查2名患者,脆性X检出率分别为13％,19％,本家系内尚有1名男性携带者,提示该家系脆性X染色体综合征不属于典型的X连锁隐性遗传。     

RETINOBLASTOMALACTIC DEHYDROGENASE OF AQUEOUS HUMOUR AND ITS ISOENZYMES

Lactic dehydrogenase (LDH) activity in aqueoushumour and serum was measured of 24 patients withretinoblastoma, senile cataract, glaucoma, and cho-roid melanoma in addition to LDH isoenzyme fractions. The results were compared with those of the20 normal children. The ratio of aqueous humourLDH to serum LDH was 4.32+2.80, and that ofisoenzymes LDH4 to LDHl was greater than l. Theresults of our study suggested that the total LDHactivity and isoenzyme fractions in the aqueoushumour is of value in the diagnosis of retinobla&toma.     

Subtypes of alpha 1-adrenoceptors in rat blood vessels

Two alpha 1-adrenoceptor subtypes (alpha 1A and alpha 1B) have been distinguished by competitive antagonists and the alkylating agent chloroethylclonidine. The chloroethylclonidine-insensitive subtype (alpha 1A) has been suggested to selectively activate Ca2+ influx through dihydropyridine-sensitive channels in smooth muscle. We compared the effects of chloroethylclonidine and nifedipine on contractile responses to norepinephrine (NE) in rat blood vessels. Pretreatment with chloroethylclonidine caused a large shift to the right and decrease in maximum for NE-induced contractions of rat aorta, however, nifedipine had no effect in this tissue. Chloroethylclonidine had no effect on NE-induced contractions of rat renal arteries, which were almost completely abolished by nifedipine. Both chloroethylclonidine and nifedipine partially attenuated NE-induced contractions in rat mesenteric artery and portal vein. Addition of nifedipine abolished residual contractions remaining after chloroethylclonidine pretreatment in all four types of vessels. The pA2 for the competitive antagonist WB 4101 was highest in renal artery and lowest in aorta. These results suggest that the sensitivity of rat blood vessels to chloroethylclonidine is inversely related to their sensitivity to nifedipine, and support the existence of two alpha 1-adrenoceptor subtypes in rat blood vessels. Rat aorta appears to contain primarily alpha 1B receptors, renal artery primarily alpha 1A, and mesenteric artery and portal vein mixtures alpha 1A of and alpha 1B.     

糖皮质激素受体高、低亲和力位点在急性淋巴细胞性白血病治疗中的意义

研究了１０例正常人和２９例急性淋巴细胞性白血病（急淋）患者外周血糖皮质激素受体高、低亲和力结合位，或（ＧＣＲＨ、ＧＣＲＬ），利用Ｒｕ３８４８６对ＧＣＲＬ进行封闭，对部分患者ＧＣＲＨ、ＧＣＲＬ在激素联合化疗前后水平的变化进行了动态观察。结果表明，正常对照组ＧＣＲＨ、ＧＣＲＬ分别为４６０８±１８８９位点／细胞和１３５２３８±８８５０９位点／细胞，两者相关良好。急淋患者ＧＣＲＨ、ＧＣＲＬ分别为６０５２±３８８８位点／细胞和１２６４０５±１０２１３３位点／细胞，经过糖皮质激素药物联合化疗后，其水平分别为３６１６±１９６２位点／细胞和１４３５９７±１１２２８９位点／细胞，ＧＣＲＨ下降明显（Ｐ＜０．０１），下降率为４０．３％；而ＧＣＲＬ化疗前后差异不显著（Ｐ＞０．０５）。提示ＧＣＲＬ在介导糖皮质激素联合化疗疗效的维持中起重要的作用。     

深低温储皮后其抗原性改变的免疫学研究

以人皮和豚鼠皮新鲜及－１９６℃冷冻皮片匀浆做为抗原，研制出兔抗人和豚鼠的新鲜及－１９６℃冷冻皮片匀浆的可溶性蛋白高效价的免疫血清，并通过免疫电泳、火箭免疫电泳、免疫火箭扩散电泳及单相免疫扩散电泳等不同免疫学电泳的检测，分别对新鲜皮片及－１９６℃冷冻皮片抗原性改变的这一现象进行探讨与研究。结果表明：人皮、豚鼠皮其新鲜皮片的抗原成份、抗原决定簇及抗原量均显著高于相应的－１９６℃冷冻组皮片，因而证实了通过深低温冷冻的皮片其抗原性低于新鲜皮片的论断。     

缺血－再灌注兔心肌肌浆网自由基的测定

应用电子自旋共振波谱仪（ＥＳＲ）直接检测了缺血－再灌注兔心肌肌浆网自由基的变化，以探讨肌质网系统与氧自由基的关系。实验中将２０只兔随机分为再灌注对照组、超氧化物歧化酶（ＳＯＤ）组、ＡＴＰ－氯化镁组和人参皂甙Ｒｅ组。实验结果，ｇ值２．００４６处为半醌自由基波谱，其相对浓度各组依次为７８．９４±２．１２６，１４．４６±２．８６，２０．６５±７．６５，１４．６６±３．６７（ｘ±ＳＤ），对照组与用药组均有显著性差异（Ｐ＜０．０５），表明缺血－再灌注兔心肌肌浆网产生大量的自由基，用ＥＳＲ可以直接检测到半醌自由基，外源性高能磷酸盐制剂ＡＴＰ－氯化镁及人参皂甙Ｒｅ与超氧化物歧化酶一样，发挥清除兔心肌肌浆网自由基的作用。     

南京口岸1987—1993年艾滋病监测报告

本文报道了南京卫生检疫局1987～1993连续7年对南京口岸重点人群进行艾滋病监测的情况．7年来南京局共监测各类标本43085份，在外籍留学生中检出HIV感染者2例，另外还检出4份进口人血丙种球旦白HIV抗体阳性．该局对检出的2侧HIV感染者及4份阳性进口人血丙种球旦白进行了游行病学调查和处理．并对艾滋病监测管理的有关问题进行了探讨．     

甾体避孕药不增加血栓栓塞性疾病危险(病例对照研究)

本文采用1:3病例对照研究方法,对甾体避孕药的使用与血栓栓塞性疾病(急性心肌梗塞、脑栓塞、脑血栓形成和深静脉血栓形成)间的关联进行多因素分析。结果提示在我国广泛应用的甾体避孕药(主要为国产Ⅰ号避孕药)并不增加血栓栓塞性疾病的危险性。用药和停药时间的长短与血栓栓塞性疾病的发生无关,并与高血压病之间亦不存在协同作用。     

卵巢肿瘤细胞DNA及RNA含量的定量分析及其临床意义

本资料对９３例不同性质的卵巢肿瘤细胞ＤＮＡ及ＲＮＡ含量进行了定量研究，其中５０例良性、４３例恶性。并对患者进行１～５年的随访。结果是卵巢良性肿瘤的异倍率（假阳性）为４４％，恶性肿瘤异倍率为８６．０％。以“标准ＤＩ”及“标准ＲＩ”为指标判断卵巢肿瘤性质的准确率较以“异倍性”为高，且双指标同时应用高于任一单指标：对卵巢良恶性肿瘤的诊断准确率分别为９０％和９５．３％。提出“标准ＤＩ”和“标准ＲＩ”是判断卵巢肿瘤性质的理想指标。且ＤＮＡ及ＲＮＡ含量与卵巢癌预后有密切关系。     

婴幼儿缺铁性贫血对听觉脑干诱发电位的影响

对４８例６～３２个月龄缺铁性贫血（ＩＤＡ）患儿及３０例正常婴幼儿进行了听觉脑干诱发电位（ＡＢＲ）测试，并对其中４例患儿进行补铁后复查。结果显示：ＩＤＡ患儿中ＡＢＲ异常者占５４．２％。ＩＤＡ主要造成听觉系统周围性损害，对中枢脑干部位的损害较小。ＩＤＡ的程度与ＡＢＲ异常的程度直接相关：ＡＢＲ异常组的血红蛋白、血清铁均值明显低于ＡＢＲ正常组；中枢性损害组血清铁均值明显低于周围性损害组；重度ＩＤＡ组ＡＢＲ异常发生率明显高于轻度ＩＤＡ组。ＩＤＡ患儿的Ｖ波反应阈明显增高，提示有与语言理解困难有关的高频听力障碍。４例患儿ＡＢＲ复查结果表明，早期发现并及时纠正ＩＤＡ，则其造成听觉系统的损害是可以恢复的。