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.     

进行性假性类风湿发育不良症的临床分析

目的提高对进行性假性类风湿发育不良症的认识。方法对2例进行性假性类风湿发育不良症进行分析，并通过文献复习对本病的临床表现及影像学改变进行分析总结。结果2例患者均为幼年起病，以双手近端指间关节肿胀为突出表现，逐渐出现外周大小关节进行性受累，并伴有脊柱的异常。结合文献报道的51例分析发现，本病男女患病率相仿，发病年龄多为1～10岁，其中77％为3～5岁。外周大小关节均可受累，依次累及双手小关节、髋、膝、踝、腕、肩等，早发骨关节炎改变是致残的主要原因，38％的患者脊柱受累可出现短躯干畸形。影像学特点均表现为普遍性扁平椎并椎体终板不规则、骨骺增大、继发性退行性变和关节周围骨质疏松。本病临床症状与类风湿关节炎相似，但不同的是无滑膜炎和其他炎性改变、X线无破坏性改变。目前无特异的治疗方法。结论进行性假性类风湿发育不良症是一种少见的常染色体隐性遗传性疾病，临床特点及典型的影像学表现有助于诊断。     

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.     

克罗米芬兴奋试验预测卵巢储备功能的价值

目的探讨克罗米芬兴奋试验（CCT）在不孕妇女中预测卵巢储备功能的作用。方法对2001年1月至2005年2月就诊于广东省妇幼保健院的666例不孕症患者作为研究对象，分为A组（≥35岁）461例为高龄组，B组（〈35岁）205例为低龄组，另取156例年龄〈35岁、非女方不孕原因者作为对照组，对三组受试者进行CCT。结果CCT异常发生率A组、B组及对照组分别为27．76％、34．14％、2．56％，A组及B组与对照组比较差异均有非常显著性意义（P〈0．01）。基础卵泡刺激素（FSH）〈10IU／L、雌二醇（E2）〈180pmot／L的不孕患者CCT异常发生率分剐为17．46％、24．19％，均明显低于FSH≥10IU／L、E2≥180pmol／L患者的64．19％及39．4％（P〈0．01）。结论CCT预测卵巢储备功能较基础FSH更敏感，CCT可作为常规了解卵巢储备功能的一项检测方法。     

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。     

血清前列腺特异性抗原增高的病理基础

对血请前列腺特异性抗原（ＰＳＡ）高于４μｇ／Ｌ，且有病理检查资料的６７例前列腺疾病患者，进行了分析。其中前列腺癌２４例，非癌前列腺病变４３例。结果显示前列腺癌组血清ＰＳＡ明显高于非癌组（Ｐ＜０．０１）。以血清ＰＳＡ１０μｇ／Ｌ为低限值，诊断癌的灵敏性为８３．３％。特异性为７４．４％，认为血请ＰＳＡ４～１０μｇ／Ｌ应视为癌的危险范围。上皮血屏障的破坏和上皮细胞增生是血清ＰＳＡ升高的基础     

人胎盘提取组织凝血活酶及其质量评价

利用人胎盘抽提得组织凝血活酶，并对其质量进行了评价，同时初步应用于临床。结果显示：用含表面活性剂的抽提剂粉碎抽提的效果较好，所得组织凝血活酶重复性、灵敏度、稳定性均令人满意；与上海荣盛生物制品厂生产的ＰＴ试剂盒比较相关性好：Ｙ＝２．７５＋０．９０５ｘ，ｒ＝０．９２５３，经相关系数ｔ检验，ｔ＝２６．５４６９，Ｐ＜０．００１，呈直线正相关。临床初步应用显示：肝病及抗凝治疗等病人ＰＴ时间明显延长，９３例正常人ｘ＝１１．３秒，ｓ＝０．９６秒，正常范围９．４２－１３．１８秒。