国人无综合征性耳聋患者的线粒体基因组7445A→G突变263例调查

目的 :探讨国人无综合征性耳聋 ( NSD)患者的线粒体 DNA 744 5 A→ G( m t DNA744 5 A→ G)突变的发生情况。方法 :对 32个 NSD家系 12 8例和 135例散发的 NSD患者 ,10 0例正常人 ,以 PCR法检测 mt DNA 744 5 A→ G突变情况。结果 :全部受检者无 mt DNA744 5 A→ G突变发生。结论 :国人 NSD患者的 m t DNA744 5 A→ G突变的发生率较低 ,且明显低于 mt DNA15 5 5 A→ G的突变发生率     

遗传性无综合征耳聋一家系畸变产物耳声发射测试

目的　探索遗传性进行性无综合征耳聋患者的听功能改变特点。方法　一个常染色体显性遗传进行性无综合征耳聋家系 5 2名成员及听力正常组 15名 ,进行了纯音测试及畸变产物耳声发射 (distortionproductotoacousticemissions,DPOAE)测试。结果　无综合征耳聋家系中 34名成员纯音测试为感音神经性聋 ,其中纯音听阈均值 (puretoneaverage ,PTA)≥ 40dB的 15例 (2 9耳 )DPOAE反应缺失 ,PTA≤ 35dB伴高频下降的 12例 (2 3耳 )DPOAE高频或高、中频振幅下降或缺失 ;2 1名 (42耳 )纯音听阈正常成员中 ,有 12例 (15耳 )DPOAE高频或高、中频振幅下降或缺失。结论　DPOAE能鉴别出耳蜗亚临床的病理改变 ,对该病的早期诊断 ,遗传咨询有指导意义。     

舰艇环境对舰员心理功能和神经行为的影响

探讨封闭型舰艇环境对舰员心理功能和神经行为的影响。方法 采用微机化神经行为评价系统和症状自评量表对封闭型水面舰艇舰员进行了测试,并以开放型水面舰艇舰员为对照。结果 封闭型舰艇人员符号译码成绩明显低于开放型舰艇人员,并出现类似“空调病”的症状。结论封闭型舰艇环境能危害舰员的心理健康,负离子浓度低为重要的环境因素,应改进通风。     

Clinical audit of the process of referral to genitourinary medicine of patients found to be chlamydia positive in a family planning service

This paper describes a collaborative audit between a large family planning and genitourinary medicine (GUM) service undertaken to ensure that all women presenting for termination of pregnancy (TOP) or IUD fitting were offered screening for chlamydia, were informed of a positive result, and were subsequently referred to GUM for full sexual health screening and contact tracing. Over a six month period in 1996 1072 patients were seen for either TOP (763) or W1) fitting (309) and of these 999 were offered a test which was performed in 988. Overall 38 positive tests were reported (3.8 per cent) but only two of 259 patients tested prior to lUD fitting were found to have chlamydia (<0.8 per cent). Only 27 of these 38 women (74 per cent) had information recorded in their notes that they had been given their result and 24 patients (63 per cent) were seen in GUM. The audit uncovered problems with documentation and cross-referencing of information which largely accounted for the failure to reach some of the standards set. An action plan has been formulated in an attempt to improve this aspect of the screening service. If more widespread screening for chlamydia is to be effectively implemented as recommended by the 31st RCOG Study Group on the Prevention of Pelvic Infection, then it is of importance that workable local protocols are in place including arrangements for partner notification and treatment. This will involve close collaboration between a range of specialities working in the sexual health field.     

Prone ventilation--it's time

Prone positioning to improve oxygenation in acute lung injury was first reported over 20 years ago. Although this and several subsequent studies have shown that prone positioning improved oxygenation in the majority of patients, it has failed to become common practice in intensive care units. This paper reviews the mechanism by which prone positioning improves oxygenation and the clinical studies of its use to date.     

人类白细胞抗原B27亚型基因与急性前葡萄膜炎的相关性研究

目的 探讨人类白细胞抗原B27亚型基因与急性前葡萄膜炎(acute anterior uveitis,AAU)易感性的关系。 方法 对49例临床确诊的AAU患者,通过聚合酶链反应(polymerase chain reaction, PCR)特异性扩增技术检测B27;以B27阳性者的DNA为模板对其人类白细胞抗原HLA-B的第二、三外显子片段扩增。采用DNA测序技术对扩增产物做基因序列分析,经计算机处理获得受检者HLA-B27亚型的信息。 结果 受检者中29例为B27阳性,占59.39%,其中仅发现B2704(13例,占44.00%)和B27052(16例,占56.00%)二种亚型基因携带者。二者间多数临床表现差异不大,但携带B27052基因的AAU患者伴发强直性脊柱炎(ankylosing spondylitis, AS)的人数(7人,占24.24%)显著高于B2704基因携带者(1人,占3.74%)。 结论 B2704和B27052单独的亚型特异性与AAU无易感性关联;但B27052基因可能与并发AS有关。 (中华眼底病杂志, 1999, 15:139-142)     

Orally active isoxazoline glycoprotein IIb/IIIa antagonists with extended duration of action

Modification of the alpha-carbamate substituent of isoxazoline GPIIb/IIIa (alphaIIb beta3) antagonist DMP 754 (7) led to a series of alpha-sulfonamide and alpha-sulfamide diaminopropionate isoxazolinylacetamides which were found to be potent inhibitors of in vitro platelet aggregation. Aryl- and heteroaryl-alpha-sulfonamide groups, in conjunction with (5R)-isoxazoline (2S)-diaminopropionate stereochemistry, were found to impart a pronounced duration of antiplatelet effect in dogs, potentially due to high affinity for unactivated platelets. Isoxazolylsulfonamide 34b (DMP 802), a highly selective GPIIb/IIIa antagonist, demonstrated a prolonged duration of action after iv and po dosing and high affinity for resting and activated platelets. The prolonged antiplatelet profile of DMP 802 in dogs and the high affinity of DMP 802 for human platelets may be predictive of clinical utility as a once-daily antiplatelet agent.