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.     

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     

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).     

胆囊炎和胆石症的饮食疗法

胆囊炎、胆石症的发病及复发与饮食密切相关。中医素有“药食同源”之说,《内经》曾有“虚则补之,药以祛之,食以随之”和“谷肉果菜,食养尽之等饮食疗法的论述。饮食疗法简称食疗,首先应遵循食疗原则,主要是注重辨证施食,并辅以药膳。食疗原则胆囊炎、胆石症的食疗目的是注意饮食习惯避免诱发疼痛发作(即胆绞痛),并保证胆囊收缩正常,使胆汁排泄通畅,去除引起胆汁淤滞的因素,抑制胆石的生成。其食疗的基本原则是:1饮食规律忌暴饮暴食。2控制脂肪摄入,适量摄取蛋白质3材料要新鲜,烹调要柔软,口味要清淡。4少吃辛辣品,禁饮酒。5多吃蔬菜、水果,…     

支气管炎非药物疗法功能及形态学观察

我们用组织学,组织化学方法观察支气管炎患者气功前和气功后痰的镜下变化及测量其发声最大值.结果表明:支气管炎患者功后痰内粘多糖的含量、上皮脱落细胞的数量增多,痰中细胞种类增加,如出现浆细胞、肥大细胞、中性粒细胞、淋巴细胞等,体现机体免疫功能提高,机体调节代谢能力增强,从而达到病愈、健体、养心的良效。从功后最大发声值增加,说明肺活量加大,也是患者病情好转的症侯。     

中老年人前列腺体积增长的城乡差异

为了解国人中年以后前列腺的生长情况及其可能的影响因素，对北京、河北、湖北等地四个社区的城乡居民前列腺体积进行了经腹Ｂ超测量。结果表明城区居民的前列腺体积明显大于相应年龄段的农村居民，城区居民的前列腺增长速率比农村居民高二倍。生活环境和饮食习惯的不同可能为其原因之一。     

Electro-oculogram of Retinal Vein Occlusion

Twenty five cases, including 26 eyes with retinal vein occlusion (RVO) were examined by means of the electro-oculogram. The results showed that 23 of the 26 eyes suffering from RVO exhibited abnormalities of the electro-oculogram (EOG). The potential difference and Arden ratio in the RVO eyes were lower than those in the normal eyes (P<0.01). The more the visual acuity of ill eyes was decreased, the higher the abnormal rate of EOG in ill eyes was. 14 eyes had the visual acuity less than 0.1, whose EOGs were abnortmal. Six eyes had the visual acuity from 0. 2 to 0. 4, in which the EOGs of 5 eyes were abnormal. Six eyes had the visual acuity more than 0. 5, a-mong which the EOGs of 4 eyes were abnormal. Based on the above observations, it may be considered that the circulatory disturbance resulting from RVO damages not only the internal layer but also the external layer of the retina. We suggest that EOG is a useful method for distingquishing lesions caused by RVO and may reflect the functional condition     

REGULATING FUNCTION OF COENZYMIZATION AND DECOENZYMIZATION OF THE LACTATE DEHYDROGENASE ISOZYMES IN THE MOUSE TISSUES DURING HYPOXIA

Objective. To study the characteristics of changes of LDH enzyme patterns of mice under slight hypoxia.Methods. Mice treated with artificial hypoxia, various tissues were made for the test of LDH enzymatic activity by the specific staining technique. LDH (1 -5) relative percentage enzymatic activity (RPEA) were measured with CS-910 dual-wavelength thin layer chromatography scanner.Results. The RPEA of LDH isozymes of various tissues after slight hypoxia shifted to the isozymes LDH1 and LDH2, whose principal subunits are H subunits, and the RPEA of LDH,(H4), LDH2(H3M) increased, while RPEA of LDH5(M4) in various tissues decreased prominently except the cardiac muscle, and that of LDH4(HM3) decreased as well. After polyacrylamide gel electrophoresis (PAGE) of the hypoxia treated cardiac muscle specimen was made, activity subbands originated regularly in the isozyme patterns of LDH, with the regularity of LDH1 (0 subband), LDH2 (0-1 subbands), LDH3 (0-2 subbands), LDH4 (1-3 subbands), LDH5 (2-4 subbands).