复合杂合parkin基因突变家族的不同表型

背景：Parkin基因（PRKN）突变可导致常染色体隐性遗传性早发帕金森病（EOPD）。目的：探讨EOPD白人家族PRKN突变的表现和基因型-表型关系。设计：对EOPD家族的3代20例成员进行基因分析，该家族有4例患者。应用直接基因组DNA测序、半定量聚合酶链反应、实时定量聚合酶链反应以及逆转录酶聚合酶链反应分析以确定PRKN突变。结果：4例早发患者（年龄30—38岁）被确定有PRKN复合杂合突变（T240M和EX5_6缺失），虽然PRKN的杂合T240M和纯合EX5_6缺失突变已有描述，但是据悉，本文为上述复合杂合突变的首次报道。患者的表型为典型常染色体隐性遗传性EOPD的表现，其特征是对左旋多巴治疗有效、相对缓慢的进展和运动障碍。所有杂合突变的基因携带者（T240M或EX5_6缺失）和1例56岁的复合杂合突变女性携带者（T240M和EX5_6缺失）无任何神经系统症状。结论：研究发现，PRKN基因复合杂合突变（T240M和EX5_6缺失）导致一个大的白人家族中4例成员发生常染色体隐性遗传性EOPD。另外1例成员具有相同的突变，比4例患者的平均发病年龄大10岁，并且无本病的临床表现。不完全的外显率对遗传咨询具有暗示作用，并且提示复杂的基因一环境交互作用在PRKN相关EOPD的发病机制中发挥作用。     

Reproducibility of ultrasound pachymetry using the Sonogage Corneo-Gage Plus 2.

PURPOSE: The aim of this study was to determine the reproducibility of measurements made using the Sonogage Corneo-Gage Plus 2 (Cleveland, Ohio) ultrasound pachymeter of total corneal and corneal epithelial thickness in 5 different regions of the cornea. METHODS: Twenty-seven subjects at the New England College of Optometry (NECO) and 20 subjects at the Southern College of Optometry (SCO) were enrolled in this study. Measurements were taken of the central cornea as well as the nasal and temporal regions of the midperipheral and peripheral regions of the right cornea of each subject. Identical measurements were again taken in these subjects 1 week later at approximately the same time of day. Within-subject variations were then assessed using paired t tests. RESULTS: The only significant measurement differences that were found between visits were for full corneal thickness at both the nasal and temporal midperipheral locations. The mean differences for these locations were 13.5 microm and 13.7 microm, respectively. CONCLUSIONS: Epithelial corneal thickness and central and peripheral total corneal thickness measurements using the Corneo-Gage Plus 2 pachymeter were reproducible; however, midperipheral total corneal thickness measurements showed poor reproducibility.     

β-胡萝卜素立体异构体对环磷酰胺处理小鼠免疫功能的比较研究

就β-胡萝卜素立体异构体对环磷酰胺处理小鼠的免疫功能影响进行了比较研究。结果显示β-胡萝卜素立体异构体对外磷酰胺造成的免疫功能低下具有不同程度的改善作用，提高胸腺和脾脏指数，增强脾脏细胞对刀豆素A（ConA）的反应性和NK活性，血清溶菌酶含量也有所增加。综合各项指标，9-顺式和全反式混合物的作用最明显，提示一定浓度的9-顺式对于提高β-胡萝卜素对机体的总体作用是有一定意义的。     

改善胰岛素敏感性对血压影响的相关研究

目的 :观察胰岛素增敏剂二甲双胍改善 2型糖尿病胰岛素敏感性后对血压的影响。方法 :71例 2型糖尿病人口服二甲双胍 (格华止 ) 85 0 mg,qd-bid。治疗前后测定 BMI、血压、FBG、PBG、FINS、PINS,并按 HOMA模型计算胰岛素抵抗指数和胰岛素分泌指数。结果 :( 1)二甲双胍治疗 8周后 ,BMI治疗前后无显著性差异 ;血压治疗后明显下降 ,降压幅度达 ( 13.1± 4.97) /( 4 .2 2± 9.93) mm Hg,血压治疗前后有显著性差异。 ( 2 )治疗后 F BG、 PBG、 FINS均明显下降 ,治疗前后有显著性差异。 ( 3)治疗后 HOMA-IR下降 ,IAI升高 ,治疗前后有显著性差异 ,但 HOMA-IS、 FINS/FBG无显著性差异。结论 :二甲双胍治疗 2型糖尿病 ,在降低血糖、改善 IR的同时 ,伴有血压的明显下降     

两种微创方法治疗股骨颈骨折的临床对照试验

目的分别应用三针锁针加压器外固定和空心拉力钉内固定疗法治疗股骨颈骨折,探讨股骨颈骨折最佳治疗方法.方法应用三针锁针加压器外固定治疗股骨颈骨折63例,其中男24例,女39例;年龄55～89岁,平均(64.5±3.2)岁;Garderl Ⅰ型2例,Ⅱ型15例,Ⅲ型38例,Ⅳ型8例.应用空心拉力钉内固定治疗63例,其中男29例,女34例;年龄45～76岁,平均(62.2±2.9)岁;Garden Ⅰ型4例,Ⅱ型24例,Ⅲ型28例,Ⅳ型7例.对其疗效进行分析.结果126例除2例死亡外均得到随访.115例愈合,其中10例股骨头坏死.外固定组愈合58例,股骨头坏死4例,死亡1例;内固定组愈合57例,股骨头坏死6例,死亡1例.根据Harris功能评定标准评价疗效,外固定组62例中优24例,良26例,可8例,差4例,优良率80.65%;内固定组62例中优23例,良27例,可6例,差6例,优良率80.65%.Harris评分外固定组平均(80.40±1.21)分,内固定组平均(79.14±1.47)分,两组Harris评分比较差异无统计学意义(P＞0.05).结论采用内外固定治疗股骨颈骨折疗效无明显差异,但外固定创伤小、费用低、可早期离床;而采用拉力钉内固定器医疗成本高,卧病时间相对较长,且需二次手术取内固定钉.     

Analysis of the Surface Ozone During Summer and Autumn at a Coastal Site in East China

The levels and temporal variations of surface ozone at a coastal site in East China during summer and autumn were analyzed and the influences of meteorological parameters on ozone were investigated. An inland city was chosen as a comparison site. The main results and conclusions of this study are: (1) ozone pollution, with a maximum 1 h concentration of 150.98 ppbv, was severe during summer and autumn at the coastal site; (2) the ozone level was obviously higher at the coastal site than that at the inland site in September; (3) besides temperature and solar radiation, sea-land breeze circulation is an important factor influencing the ozone level at the coastal site, and sea breeze often induce high ozone levels (the average ozone concentration for sea breeze was about 13 ppbv higher than that for land breeze).     

改良开放性手术治疗巨大良性前列腺增生症

目的探讨巨大良性前列腺增生症的开放性手术治疗方法及效果。方法回顾分析16例巨大良性前列腺增生症,年龄61~88岁,平均74岁。作耻骨上经膀胱前列腺切除术。结果手术均成功;手术时间35~65min,出血量100~200mL,术后前列腺重量为200~520g,平均215g;膀胱冲洗2~3d,拔导尿管5~7d;术后3d再出血1例,经DSA同侧髂内血管栓塞止血成功,排尿困难1例,短期尿失禁1例,其余患者术后均排尿通畅,控尿良好。结论开放性手术治疗巨大良性前列腺增生症,其梗阻解除彻底,是一种合理的治疗方法。恰当的手术方法是提高疗效及降低并发症的关键。     

Carotid surgery in stroke prevention

Extracranial carotid disease accounts for up to 50 percent of strokes. Transient ischemic attacks are associated with a 30 to 35 percent risk of stroke within five years of the initial episode. Carotid endarterectomy is a safe and effective way of reducing the risk of stroke in patients with TIAs. It is also helpful in patients with amaurosis fugax, and may benefit selected patients with acute stroke or those with asymptomatic but hemodynamically significant stenosis.