Y染色体微缺失与男性不育研究进展

约 10 %～ 15 %原因不明的无精子症和 5 %～ 10 %严重少精子症存在Y染色体AZF微缺失 ,该不育人群借助ICSI技术可产生子代 ,但同时可将微缺失垂直传播给男性后代引起不育。本文从Y染色体微缺失的频率位置、基因型和表型的关系、缺失的来源机制、检测手段、助孕技术与其关系等几个方面予以综述 ,以进一步理解男性不育的原因 ,从而为诊断、治疗提供一条新途径     

颈椎三维有限元模型的建立及意义

目的 :建立颈椎 (C4～C7)三维有限元模型 ,以期应用于临床实验研究。方法 :根据正常中年女性CT与CT重建片 ,采用CAD数据处理技术 ,输入相关的材料特性 ,构建C4～C7三维有限元模型。模型包括颈C4～C74个椎体、C4 / 5～C6 / 73个椎间盘以及后部结构与主要的 5条韧带。共 2 178个三维固体 2 0节点有限元结构。在1 8Nm作用力下 ,观察节段运动与力 位移反应。对比国内外的实验结果进行检验。结果 :生物力学实验结果与以往实验模型结果基本相符。结论 :所建立的颈椎三节段有限元模型可以模拟颈椎生物力学实验。     

良性前列腺增生患者膀胱内前列腺突入测定的临床意义

目的探讨良性前列腺增生（BPH）患者前列腺突入膀胱内的程度对膀胱出口梗阻及逼尿肌功能的预测与评价。方法以经腹超声证实前列腺突入膀胱内的BPH患者为研究组,无突入的患者为对照组,分析两组间临床资料及尿动力学检查结果的关系。结果研究组临床资料中,前列腺体积、残余尿量、急性尿潴留及膀胱小梁化的比率与对照组相比差异有统计学意义（p〈0．05）,膀胱内前列腺突入程度与前列腺体积、残余尿量呈正相关（r分别为0．401,0．342,p值分别为0．013,0．0231）;在尿动力学结果中,研究组排尿期最大尿流率（Qmax）、逼尿肌不稳定及低顺应性膀胱的比率与对照组相比差异显著（p〈0．01）,排尿期最大逼尿肌压力（Pdet.max）及梗阻指数显著高于对照组（p〈0．05）,膀胱内前列腺突入程度与Qmax呈负相关（r=-0．284,p=0．045）,与Pdet．max及膀胱出口梗阻指数（BOOI）呈正相关（r分别为0．252,0．456,p值分别为0．041,0．032）。结论前列腺突入膀胱的BPH患者膀胱出口梗阻及膀胱功能受损的程度明显高于无突入患者;经B超测定膀胱内前列腺突入的程度,可以预测及评价膀胱出口梗阻的程度和膀胱功能的改变。     

门静脉高压症治疗的临床与基础研究现状

近年，肝移植在我国迅速发展，已逐渐成为治疗终末期肝病的常规手术。对肝硬化门静脉高压症（PHT）所致上消化道出血的手术方式的选择重新成为临床工作者关注的重点。行肝移植手术还是传统的PHT手术？在肝硬化PHT基础研究方面，过去主要是研究引起高动力循环的液递物质，而近5年来，人们更重视肝纤维化发展机制的研究，特别是在激活与抑制星状细胞的各种因子对肝纤维化形成过程的影响方面进行了较为深入的研究，试图延缓或逆转肝纤维化，从根本上治疗肝硬化PHT。本文复习国内外PHT临床与基础研究现状，并对一些PHT基础研究和临床诊治的热点问题进行探讨。     

17 β雌二醇通过丝裂原活化蛋白激酶抑制前列腺癌细胞系PC3增殖

目的探讨丝裂原活化蛋白激酶在17β雌二醇(E2)抑制前列腺癌PC3细胞生长中的作用。方法检测不同浓度E2作用不同时间后PC3细胞生长抑制率。流式细胞仪分析细胞周期分布,TUNEL染色检测凋亡。Western blot检测ERK1/2,JNK和p38活性。RT-PCR法检测雌激素受体(ER)α、ERβ、P21WAF1和cyclinD1的表达。结果E2抑制PC3细胞增殖,并且可以激活ERK1/2、JNK和p38。处理因素作用48h后,对照组、E2、E2 PD98059、E2 SP600125、E2 SB203580组细胞的凋亡率分别为(0.9±0.1)%;(23.0±1.4)%;(30.0±1.2)%;(10.6±0.8)%和(14.6±0.7)%,(P<0.05)。E2使细胞阻滞在G1期,PD98059、SP600125、SB203580分别预处理1h后细胞分别进一步阻滞在G1期;轻度阻滞在G1期和进入S期。RT-PCR发现PC3细胞表达ERα和ERβ,E2、E2 PD98059、E2 SP600125、E2 SB203580组中cyclinD1、P21WAF1基因表达分别为对照组的(0.42±0.03)、(3.13±0.02)倍;(0.21±0.03)、(3.08±0.05)倍;(0.43±0.01)、(1.31±0.04)倍;(2.81±0.02)、(3.14±0.02)倍(P<0.05)。结论E2激活JNK增加P21WAF1基因表达,并激活p38抑制cyclinD1表达,使细胞阻滞在G1期,JNK和p38通路还介导E2引起PC3细胞凋亡。同时E2又可激活ERK1/2,轻度拮抗上述作用。     

MMP-2和MMP-9在膀胱移行细胞癌组织中的表达及临床意义

目的：探讨膀胱肿瘤组织巾MMP-2及MMP-9表达与膀胱移行细胞癌（TCCB）临床病理分期分级的关系。方法：选择同济医院2004年1～12月间手术治疗的TCCB患者38例作为实验组,以16例附带癌旁正常黏膜或膀胱镜下活检正常膀胱黏膜作为对照组。运用免疫组织化学SP法检测MMP-2及MMP-9在膀胱组织中的表达。结果：MMP-2和MMP-9在实验组的表达显著高于对照组（P〈0．01）,且与肿瘤临床分期呈显著正相关（r=0．51361,P〈0．01）,与肿瘤病理分级也呈正相关（r=0．59818,P〈0.05）。结论：TCCB患者膀胱组织中高表达的MMP-2及MMP-9与肿瘤细胞侵袭和转移密切相关,联合检测MMP-2及MMP-9,对TCCB的早期诊断及判断预后有参考价值。     

Epidemiology of Urban Trauma Deaths: A Comprehensive Reassessment 10 Years Later

Background We conducted a comprehensive analysis of the epidemiology of trauma deaths in our urban county during a one-year period a decade ago. In the interim we have implemented a statewide trauma system, initiated a number of injury-prevention programs, and have had a major public effort to reduce drug traffic and related gangs. Consequently, we have reassessed the regional trauma mortality to ascertain the impact of these measures and to search for new injury patterns. Methods Trauma deaths occurring within our urban county from January 1 through December 31, 2002 were reviewed for mechanism, demographics, and cause of fatal injury; cases were identified using death certificates from the Colorado Department of Public Health. We compared these data to the trauma fatalities occurring during 1992. Results During the 2002 study period, there were 420 injury-related deaths. Most of the patients were men (296 patients, 70%), with a mean age of 47.3 years (median age, 42 years). The three predominant mechanisms of fatal injury were transport-related (180 patients, 43%), intentional (99 patients, 24%), and falls (86 patients, 20%). Comparison between 1992 and 2002 showed significant increases in the percentage of transport-related and fall-related deaths, and a significant reduction in intentional fatal injuries. There was also a shift in the percentage of deaths occurring in the first 24 h to delayed times. The death rate per capita in Denver County declined from 0.081 in 1992 to 0.060 in 2002. Conclusions Along with a decrease in the per capita death rate, the major mechanisms of patient’s deaths changed substantively over the decade 1992–2002; there was a shift from intentional injuries to transport-related deaths as the predominant etiology of trauma related deaths. Recognition of such injury patterns will direct future injury-prevention efforts and coordination of citywide trauma care.     

Meningioma without dural attachment: case report, classification, and review of the literature

BACKGROUND: The primary occurrences of meningiomas without attachment to the dura are rare. Clinical considerations and pathophysiologic mechanisms about these tumors have not been sufficiently explored, and a complete classification has not been accomplished. CASE DESCRIPTION: A 16-year-old adolescent boy presented with epileptic seizure for 9 years. Neurologic deficits were not found on admission. Magnetic resonance imaging revealed a 25 x 23-mm mass lesion without dural attachment located in the parietooccipital region. The tumor was iso-intense on T1-weighted and hyperintense on T2-weighted images, and became clearly and heterogenously enhanced with gadolinium. During surgery, a right parietooccipital craniotomy revealed the tumor was completely buried in the sulcus occipitalis anterior. Total removal of the tumor was accomplished. Histologic examination indicated that the lesion was an atypical meningioma. CONCLUSION: According to sites of the tumor, supratentorial meningiomas without dural attachment are classified into 5 varieties, and posterior fossa meningiomas without dural attachment into 4 categories. Except for intraventricular ones, meningiomas without dural attachment predominantly occur in males. The average age is about 20 years younger than that of meningiomas in general. Fibroblastic meningiomas constitute the major subtype. Intraparenchymal or subcortical meningiomas should be considered as one type, which may arise from arachnoid cells of the pia mater within brain sulcus.     

Lentiviral-mediated BMP-2 gene transfer enhances healing of segmental femoral defects in rats

The objective of the present study was to assess the ability of bone marrow cells expressing BMP-2 created via lentiviral gene transfer to heal a critical sized femoral defect in a rat model. Femoral defects in Lewis rats were implanted with 5x10(6) rat bone marrow stromal cells (RBMSC) transduced with a lentiviral vector containing either the BMP-2 gene (Group I), the enhanced green fluorescent protein (LV-GFP) gene (Group IV), or RBMSC alone (Group V). We also included femoral defects that were treated with BMP-2-producing RBMSC transduced with lentivirus, 8 weeks after infection (Group III), and a group with 1x10(6) RBMSC transduced with a lentiviral vector with the BMP-2 gene (Group II). All defects (10/10) treated in Group I healed at 8 weeks compared with none of the femora in the control groups (Groups IV and V). In Group II, only one out of 10 femora healed. In Group III, 5 out of 10 femora healed. Significantly higher amounts of in vitro BMP-2 protein production were detected in Groups I, II, and III when compared to that of the control groups (p<0.05). Histomorphometric analysis revealed significantly greater total bone volume in defects in Group I and III when compared to control specimens (p<0.003). Biomechanical testing revealed no significant differences in the healed defects in Groups I and III when compared to intact, nonoperated femora with respect to peak torque and torque to failure. Our results indicate that BMP-2-producing RBMSC created through lentiviral gene transfer have the capability of inducing long-term protein production in vitro and producing substantial new bone formation in vivo.     

Functional urinary and fecal incontinence in neurologically normal children: symptoms of one 'functional elimination disorder'?

OBJECTIVE: To clarify the relationship between disordered defecation and non-neuropathic bladder-sphincter dysfunction (NNBSD) by comparing the prevalence of symptoms of disordered defecation in children with NNBSD before and after treatment for urinary incontinence (UI), and assessing the effect of such symptoms on the cure rate for UI. PATIENTS AND METHODS: In the European Bladder Dysfunction Study, a prospective multicentre study comparing treatment plans for children with NNBSD, 202 children completed questionnaires on voiding and on defecation, at entry and after treatment for UI. Four symptoms of disordered defecation were evaluated; low defecation frequency, painful defecation, fecal soiling, and encopresis. RESULTS: At entry, 17 of the 179 children with complete data sets had low defecation frequency and/or painful defecation (9%), classified as functional constipation (FC). Of the 179 children, 57 had either isolated fecal soiling or soiling with encopresis (32%), classified as functional fecal incontinence (FFI). After treatment for UI, FFI decreased to 38/179 (21%) (statistically significant, P = 0.035); for FC there were too few children for analysis. After treatment for UI, 19 of the 179 children (11%) reported de novo FFI. Symptoms of disordered defecation did not influence the cure rate of treatment for UI. CONCLUSIONS: FFI improved significantly after treatment for UI only, but not in relation to the outcome of such treatment. FFI did not influence the cure rate for UI. There was little to support a causal relation between disordered defecation and NNBDS ('functional elimination syndrome').