粘连性小瞳孔白内障超声乳化吸除及人工晶状体植入术

目的探讨粘连性小瞳孔白内障超声乳化吸除手术方法及技巧。方法对36例(42眼)粘连性小瞳孔白内障行超声乳化吸除及人工晶状体植入术,术中不分离虹膜后粘连,利用拦截劈裂法乳化晶状体核,通过4mm大小瞳孔完成手术。结果所有病例视力有不同程度提高,获得生理性圆或近圆瞳孔,主要并发症包括角膜内皮水肿,前房纤维素渗出。结论采用本方法治疗粘连性小瞳孔白内障操作相对简单,术后反应轻,并发症少。     

115例乳腺癌临床分析

目的 :总结乳腺癌的发病规律、早期临床表现 ,提高乳腺癌的诊断及治疗水平。 方法 :对 115例乳腺癌患者的临床表现、诊断、治疗和预后进行回顾性分析。 结果 :红外线诊断占 78 3% (18/ 2 3) ,X线钼靶的诊断占93 5 % (2 9/ 31) ,细胞学诊断占 80 % (16 / 2 0 )。分期早期与晚期的雌激素受体 (ER)及抗凋亡相关基因 (Bag 1)的表达差异无统计学意义 (P >0 .0 5 ) ,腋淋巴结转移组与无淋巴结转移组Bag 1的表达差异有统计学意义 (P <0 .0 5 )。随访 89例 ,2年、5年生存率分别为 92 .1% (82 / 89)和 85 7% (5 4 / 6 3)。 结论 :本组乳腺癌患病年龄以 4 1～6 0岁年龄多见 ,红外线、X线钼靶、细胞学检查是诊断乳腺癌的主要手段。早诊断、早治疗是提高乳腺癌患者生存率的关键。     

中国男性原发不育的遗传高风险因子:Y染色体DAZ基因拷贝缺失

目的 探讨Y染色体无精症因子C区(azoospermia factor C，AZFe)无精症缺失基因(deleted-in-azoospermia，DAZ)家族基因拷贝缺失与中国男性原发不育之间的关系。方法 运用多重PCR与PCR-RFLP检测技术，对210例已生育男性、216例原发无精症与189例严重少精症患者Y染色体AzFc区域DAZ基因家族的基因拷贝数进行分析。结果 在所有已生育男性中未检出DAZ基因拷贝的完全或部分缺失，而在原发无精症与严重少精症患者中DAZ基因拷贝完全缺失率分别为8．8％和12．2％，DAZ1／DAZ2共缺失率分别为8．3％和5．3％。结论 在中国男性原发无精症与严重少精症患者中存在较高频率的DAZ基因拷贝缺失现象，提示Y染色体AZFc区域DAZ基因家族基因拷贝的完全与部分缺失是中国男性原发不育的遗传高风险因子。     

冠状动脉造影正常的急性心肌梗死临床分析

目的对比观察急性心肌梗死(AMI)冠脉造影正常和异常患者的临床表现.方法同期144例AMI患者,于发病12h内行尿激酶溶栓,并于心梗后7～14d内行经皮冠状动脉造影术,梗死相关动脉(IRA)再通且无冠脉病变者为冠脉正常组,再通且有冠脉病变及PTC成功者为冠脉异常组.记录二组患者易患因素,观察ST段抬高总和及90min回落程度,比较二组住院期间心脏事件发生率,并于出院前行超声心动图检查.结果144例患者中冠脉正常组10例,冠脉异常组134例,前者较后者年龄轻,男性,吸烟等诱因多见;造影时TMI 3级多见;ST段抬高总和于90min回落明显(P＜0.05);住院期间心脏事件发生率明显降低(P＜0.05);出院前超声心动图提示左室射血分数较高(P＜0.05).结论AMI冠脉造影正常者相对年龄轻,吸烟诱因多,住院期间心功能和临床预后好.     

以临床技术流程功能定位需求为基础的生理监测仪功能配置

病人生理监测仪是临床医学的主要仪器,由于涉及技术流程的功能定位不同,功能需求也就不同,其功能配置也就有所不同。从生理监测仪相关应用领域的分解技术功能定位出发,讨论装备管理的功能配置问题。     

大豆蛋白影响肾损害模型钙摄入和钙排出的实验研究

[目的]研究大豆蛋白对肾损害大鼠钙平衡的影响。[方法]选择3月龄断乳雄性SD大鼠40只．按体质量从小到大排序，采用完全随机化原则分为4组。每组10只。标准饲料对照组：喂食含有14％酪蛋白饲料；大豆蛋白饲料组：喂食含有14％大豆分离蛋白饲料；混合饲料1组：喂食含有7％酪蛋白加7％大豆分离蛋白饲料；混合饲料2组：喂食含有7％酪蛋白加14％大豆分离蛋白饲料。实验期用腺嘌呤灌胃共21d，建立肾损害大鼠模型，各组大鼠喂养相应饲料6周，测饲料消耗量、24h尿蛋白、尿钙、钙表观吸收率、储留钙量。[结果]4组实验大鼠饲料摄入量1d～30d无统计学差异，大豆蛋白饲料组和混合饲料1组实验结束时与另外两组相比，尿钙排泄量低，钙表观吸收率和储留钙量高，差异有统计学意义（P〈0．05）。[结论]蛋白质含量水平在14％条件下，含大豆蛋白的两种饲料对肾损害大鼠钙吸收、钙排泄的影响无统计学差异，有利于促进钙吸收，减少钙排泄。     

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.     

A 62-year-old woman with early-onset Parkinson's disease associated with the PINKi gene deletion]

We report the first case of early-onset Parkinson's disease (EOP) with the PTEN-induced kinase 1 (PINK1) gene deletion in 62 years old Japanese female. The symptoms were started with unstable gait at the age 38. Parkinsonian symptoms became apparent in 45 years old. L-Dopa was markedly effective on her parkinsonian symptoms. However, equinovarus foot induced by L-Dopa intake appeared three months prior to the admission. On admission, she presented with mild cognitive impairment, severe depression, marked retropulsion, resting tremor in the left upper limb and mild hyperreflexia in the four limbs. Rigidity was not present. Mutational analysis revealed homozygous deletion from exon 6 to 8 in the PINK1 gene. An ethnic diversity in PINK1 mutation is suggested.     

西地那非治疗勃起功能障碍的有效性:中文文献的meta分析

目的评价西地那非治疗ED的有效性。方法通过中国生物医学文摘光盘(CBMdisc 2004新版)和清华同方数据库中CHKD期刊全文库检索公开发表的中文文献。凡摘要或方法中出现随机对照字样,无论有无盲法均予纳入。对纳入的试验设计特征用Jadad计分评价。以IIEF中Q3和Q4评分及IIEF总评分为疗效指标,采用RevMan4．1软件进行Meta分析。结果共有9个随机对照试验被纳入。其中6个为Jadad计分3分以上高质量试验。5个试验的IIEF Q3和Q4评分meta分析,OR=8．83,95％CI为(6．67,11．69),P<0．0001。4个高质量试验的IIEF总评分meta分析OR=13．76,95％CI为(9．50,19．92),P<0．0001。显示西地那非能够显著提高ED患者的疗效指标。结论西地那非能有效改善男性勃起功能,是一种有效治疗ED的口服药物。