重庆市新生儿高胆红素血症患儿G6PD基因突变类型及临床特点

目的研究重庆市新生儿黄疸儿G6PD三种常见基因突变与其临床表现特点之间的关系。初步估计其基因突变频率并探讨其临床意义和遗传学特征。方法应用突变特异性扩增系统(ARMS)法,检测54例重庆市新生儿黄疸儿的G6PD基因突变类型。结果检出G1388A突变39例(72%),G1376T突变8例(15%),未定型者7例(13%)。未检出G95A。结论本研究首次对重庆市新生儿黄疸儿进行G1388A、G1376T和A95G突变检测。提示G1388A和G1376T为重庆市新生儿黄疸儿G6PD缺乏症基因突变的主要类型。ARMS法是一种简便、快速、经济的检测G6PD已知基因突变的方法。本研究发现这两种突变类型仅见于中国人和华裔人群,具有遗传学及临床意义。     

预防艾滋病健康教育媒体材料效果评价比较研究

目的评价4种预防艾滋病健康教育媒体材料的信息传播效果和材料效果。该材料由课题组于2003-2005年间设计制作，包括“艾滋病知识”折页、“了解艾滋病”海报、“预防艾滋病健康教育手册”和“认识艾滋病”宣教片等4种。方法2005年12月在珠海市选取小学以上文化程度的18～60岁外来工为测试对象，随机分组对4种材料分别进行评价，各调查了251、248、257和252人，共1008人。通过问卷调查了解受访者的一般情况和对材料信息的可接受性、通俗性和材料形式的生动性等8项指标的评价，采用分级定量赋分的方法进行量化评分，采用SPSS10．1统计软件进行统计分析、比较。结果4种材料的信息传播效果和材料效果总得分平均值分别为74．2±15．0、77．7±13．5、73．0±13．8和77．2±13．6，得分最高的是海报，为77．7±13．5分，最低的是手册，为73．0±13．8分，差异有统计学意义，这种差异主要体现在信息传播效果的差异，而材料效果的差异无统计学意义。通俗性、简明性、生动性和可接受性是影响得分高低的主要因素。结论海报是最适合用于城市外来工进行预防艾滋病健康教育的传播材料，其次是宣教片。     

Computation of Time-Constant Histograms from the Forced Expired Volume-Time Curves

An efficient BASIC program was established on Apple-Ⅱmicrocomputer with the CHESTAC-35F pulmonary function testing system tocalculate the time-constant histogram from the spirogram.By a set of analogousstudies,we confirmed that the recovered time-constant histogram was within onecompartment of the assumed one and that the root of mean square values of theresiduals between the experimental and model volume-time curves was 0.02.Infour healthy adult subjects,the mean value of time-constant histograms(TCx)hadthe variation coefficient 6.6％.The results show that our method is reliable andreproducible,and it can be used for clinical investigation.     

经阴道彩色多普勒诊断未破裂型输卵管妊娠

本文介绍经阴道彩色多普勒诊断未破裂型输卵管妊娠２６例，１３例经手术及病理检查证实，１３例经临床确诊，符合２５例，诊断符合率９６．１５％；误诊１例，误诊率３．８５％。经阴道彩色多普勒检查其二维图像清晰，彩色血流灵敏，能更早发现输卵管妊娠包块内特异的滋养层周围血流及同侧卵巢的黄体血流，使输卵管妊娠在破裂前就能作出诊断，具有较高的临床应用价值。     

少弱精子症与精浆附性腺标志物的相关性分析

目的分析少弱精子症患者精液参数与精浆附性腺标志物的相关性,探讨附性腺功能对男性生育力的影响。方法采用精液常规、精子形态、精浆附性腺标志物分析方法,检测正常供精者和门诊就诊的少弱精子症患者的精液相关指标。结果少弱精子症组正常形态精子百分数、精子穿透功能、精浆中性α-糖苷酶显著低于正常对照组。相关分析结果显示,少弱精子症患者组,精液量与精子活动率呈负相关(r=-0.415,P<0.05),精子数与形态呈正相关(r=0.393,P<0.05)。结论少弱精子症患者同时存在不同程度的附睾功能障碍,精子功能下降,精子畸形率显著升高,睾丸生精功能越低下,精子畸形发生率越高。     

力学刺激对3月龄骨质疏松大鼠成骨细胞增殖与合成功能的影响

探讨周期性双轴力学应变对成骨细胞增殖与分化合成功能的影响。将正常 3月龄雌性 SD大鼠和骨质疏松大鼠颅顶骨分离的成骨细胞分别在含 10 %胎牛血清的 F- 12培养液中培养 ,并接种在双轴力学应变装置中。当细胞生长至亚融合状态 (Subconfluence) ,给细胞施加力学刺激 ,频率为 1Hz,力学刺激分别为 4 0 0、10 0 0、4 0 0 0μ strain;作用时间分别为每天 30 m in,2、4、8h,共加载两天。以未受力学刺激的细胞为对照组 ,受力学刺激的细胞为实验组 ,并进行比较。采用流式细胞技术测定细胞增殖变化 ;采用同位素标记方法检测成骨细胞骨钙素、I型胶原 C端前肽 (PICP)和总蛋白的分泌量。结果表明 :1)在静态培养条件下 ,3ovx组与 3control组比较 ,其细胞功能活性无明显变化 ,但 3ovx组大鼠成骨细胞增殖活性明显增高 ,这与绝经后骨质疏松骨代谢的高转换率相一致。 2 )4 0 0、10 0 0 μstrain力学刺激可以促进 3control组成骨细胞 I型胶原、骨钙素和总蛋白的分泌量增加 ,促进成骨细胞的分化成熟 ;在 10 0 0μstrain力学刺激下 ,成骨细胞合成骨基质的能力增加最为明显。同时 ,在 4 0 0、10 0 0μstrain力学刺激的初期也可以促进成骨细胞的增殖 ,而促进成骨细胞的分化成熟的作用大于促进细胞增殖的作用。 3)在4 0 0 0 μ     

Genome-wide scan identified QTLs underlying femoral neck cross-sectional geometry that are novel studied risk factors of osteoporosis.

A genome-wide screen was conducted using a large white sample to identify QTLs for FNCS geometry. We found significant linkage of FNCS parameters to 20q12 and Xq25, plus significant epistatic interactions and sex-specific QTLs influencing FNCS geometry variation. INTRODUCTION: Bone geometry, a highly heritable trait, is a critical component of bone strength that significantly determines osteoporotic fracture risk. Specifically, femoral neck cross-sectional (FNCS) geometry is significantly associated with hip fracture risk as well as genetic factors. However, genetic research in this respect is still in its infancy. MATERIALS AND METHODS: To identify the underlying genomic regions influencing FNCS variables, we performed a remarkably large-scale whole genome linkage scan involving 3998 individuals from 434 pedigrees for four FNCS geometry parameters, namely buckling ratio (BR), cross-sectional area (CSA), cortical thickness (CT), and section modulus (Z). The major statistical approach adopted is the variance component method implemented in SOLAR. RESULTS: Significant linkage evidence (threshold LOD = 3.72 after correction for tests of multiple phenotypes) was found in the regions of 20q12 and Xq25 for CT (LOD = 4.28 and 3.90, respectively). We also identified eight suggestive linkage signals (threshold LOD = 2.31 after correction for multiple tests) for the respective geometry traits. The above findings were supported by principal component linkage analysis. Of them, 20q12 was of particular interest because it was linked to multiple FNCS geometry traits and significantly interacted with five other genomic loci to influence CSA variation. The effects of 20q12 on FNCS geometry were present in both male and female subgroups. Subgroup analysis also revealed the presence of sex-specific quantitative trait loci (QTLs) for FNCS traits in the regions such as 2p14, 3q26, 7q21 and 15q21. CONCLUSIONS: Our findings laid a foundation for further replication and fine-mapping studies as well as for positional and functional candidate gene studies, aiming at eventually finding the causal genetic variants and hidden mechanisms concerning FNCS geometry variation and the associated hip fractures.     

DNA限制性内切酶分析应用于伴放线放线杆菌的鉴定和分型

本文用限制性内切酶分析(REA)作伴放线放线杆菌(Aa)的鉴定和分型研究,提取Aa染色体DNA,井分别用BamHI、HindⅢ,Sal Ⅰ和Xho Ⅰ消化,作琼脂糖凝胶电泳。结果显示,Aa和嗜沫嗜血杆菌的DNA片段图谱明显不同;分属于两种不同血清型的两株Aa菌株,其DNA片段图谱也明显不同。这表明,REA可用于Aa菌的鉴定和分型,在所用的4种酶中,以Sal Ⅰ和Xho Ⅰ消化的DNA片段图谱差异最明显。     

GGA1 acts as a spatial switch altering amyloid precursor protein trafficking and processing

The beta-amyloid (Abeta) precursor protein (APP) is cleaved sequentially by beta-site of APP-cleaving enzyme (BACE) and gamma-secretase to release the Abeta peptides that accumulate in plaques in Alzheimer's disease (AD). GGA1, a member of the Golgi-localized gamma-ear-containing ARF-binding (GGA) protein family, interacts with BACE and influences its subcellular distribution. We now report that overexpression of GGA1 in cells increased the APP C-terminal fragment resulting from beta-cleavage but surprisingly reduced Abeta. GGA1 confined APP to the Golgi, in which fluorescence resonance energy transfer analyses suggest that the proteins come into close proximity. GGA1 blunted only APP but not notch intracellular domain release. These results suggest that GGA1 prevented APP beta-cleavage products from becoming substrates for gamma-secretase. Direct binding of GGA1 to BACE was not required for these effects, but the integrity of the GAT (GGA1 and TOM) domain of GGA1 was. GGA1 may act as a specific spatial switch influencing APP trafficking and processing, so that APP-GGA1 interactions may have pathophysiological relevance in AD.     

选择性激光小梁成形术治疗开角型青光眼的护理

[目的]探讨选择性激光小梁成形术病人的护理。[方法]采用倍频Q-开关532nmNd：YAG激光小梁成形术对90例原发性开角型青光眼病人进行治疗，并施行恰当的心理护理，术前准备，治疗过程中密切护理配合，术后密切观察病情，做好并发症的处理和健康宣教.[结果]随访1个月～12个月106眼眼压控制在≤2．31 kPa，控制率94．9％。术后降眼压疗效显著、安全且视力稳定，并发症轻而少．[结论]术前施行恰当的心理护理及充分的准备；术中做好手术配合，并指导病人配合手术；术后严密监测眼压及常见症状的护理是手术成功的必要条件。