髓母细胞瘤比较基因组杂交分析及ERBB-2异常表达的意义

目的研究髓母细胞瘤全基因组的遗传学异常,探讨癌基因的异常表达在髓母细胞瘤发病机制中的作用以及与预后的关系。方法应用比较基因组杂交（comparative genomic hybridization,CGH）技术检测14例髓母细胞瘤全基因组的遗传学改变;同时,在扩大系列的29例髓母细胞瘤中,应用荧光原位杂交（fluorescence in situ hybridization,FISH）和免疫组化染色分别检测ERBB-2在基因水平和蛋白水平的表达。结果（1）CGH结果显示,在所有14例髓母细胞瘤标本中,每一条染色体臂上都检测到了染色体的失衡（获得或丢失）,最常见的染色体异常为17q（85．7％）和7q（35．7％）的获得,以及8p（50％）、16q（28．6％）和17p（35．7％）的丢失;（2）FISH检测中,44．5％（13／29例）的肿瘤细胞有ERBB-2基因的异常表达;（3）免疫组化结果显示,37．9％（11／29例）的病例有抗体c-erbB-2的阳性表达;（4）在预后较差的16例患者中,56％（9／16例）的病例有ERBB-2的过度表达。结论CGH研究发现了髓母细胞瘤全基因组的染色体失衡。在染色体17q特异性位点上ERBB-2基因的异常改变很可能在髓母细胞瘤的发病机制中起着重要的作用,其过度表达与患者的预后密切相关。     

Characterization of melanocyte stimulating hormone receptor variant alleles in twins with red hair

The association between MSHR coding region variation and hair colour in humans has been examined by genotyping 25 red haired and 62 non-red Caucasians, all of whom were 12 years of age and members of a twin pair study. Twelve amino acid substitutions were seen at 11 different sites, nine of these being newly described MSHR variants. The previously reported Val92Met allele shows no association with hair colour, but the three alleles Arg151Cys, Arg160Trp and Asp294His were associated with red hair and one Val60Leu variant was most frequent in fair/blonde and light brown hair colours. Variant MSHR genotypes are associated with lighter skin types and red hair (P < 0.001). However, comparison of the MSHR genotypes in dizygotic twin pairs discordant for red hair colour indicates that the MSHR gene cannot be solely responsible for the red hair phenotype, since five of 13 pairs tested had both haplotypes identical by state (with three of the five having both identical by descent). Rather, it is likely that additional modifier genes exist, making variance in the MSHR gene necessary but not always sufficient, for red hair production.      

Predominance of null mutations in ataxia-telangiectasia

Ataxia-telangiectasia (A-T) is an autosomal recessive disorder involving cerebellar degeneration, immunodeficiency, chromosomal instability, radiosensitivity and cancer predisposition. The responsible gene, ATM, was recently identified by positional cloning and found to encode a putative 350 kDa protein with a Pl 3-kinase-like domain, presumably involved in mediating cell cycle arrest in response to radiation-induced DNA damage. The nature and location of A-T mutations should provide insight into the function of the ATM protein and the molecular basis of this pleiotropic disease. Of 44 A-T mutations identified by us to date, 39 (89%) are expected to inactivate the ATM protein by truncating it, by abolishing correct initiation or termination of translation, or by deleting large segments. Additional mutations are four smaller in-frame deletions and insertions, and one substitution of a highly conserved amino acid at the Pl 3-kinase domain. The emerging profile of mutations causing A-T is thus dominated by those expected to completely inactivate the ATM protein. ATM mutations with milder effects may result in phenotypes related, but not identical, to A-T.      

颅底外面枕骨基底部及周边骨性结构的测量和临床意义

目的为斜坡区肿瘤手术提供解剖资料。方法20例整颅,10例行水平切面,10例行正中矢状切面。测量切牙孔、前鼻棘、后鼻棘、枕骨大孔前端、枕髁前端、卵圆孔、破裂孔、颈动脉管外口及舌下神经管外口的内侧缘至咽结节的距离;测量卵圆孔、破裂孔、颈动脉管外口及舌下神经管外口的内侧缘至正中线的距离;测量枕骨基底部颅底外面的长径、枕骨大孔纵径(FML)、枕骨大孔前正中点与枕髁后缘连线垂直距离(AOCP)、枕髁轴径(OCA)、枕髁间距。结果切牙孔后缘、前鼻棘、后鼻棘、枕骨大孔前端、枕髁前端、卵圆孔、破裂孔、颈动脉管外口及舌下神经管外口的内侧缘至咽结节的距离分别为(mm):72.12±4.25、77.77±3.89、33.73±2.07、13.14±1.91、15.71±1.74、27.51±2.12、15.98±1.98、25.93±2.23、19.15±1.49。卵圆孔、破裂孔、颈动脉管及舌下神经管外口的内侧缘至中线的距离分别为:25.55±1.63、11.72±1.70、25.75±1.98、17.41±1.41。枕骨基底部颅底外面长径、FML、AOCP、OCA、枕髁间距分别为(mm):28.80±2.67、35.84±2.59、17.10±1.13、24.55±2.35、21.07±1.92。结论经口咽至斜坡区的手术入路中,开骨窗时安全范围是以咽结节为中心,以15mm为半径做斜坡磨除;也可以做矩形骨窗,即以咽结节为中心开一长(高)25mm×宽20mm的骨窗。     

阿尔茨海默病模型大鼠海马结构Akt磷酸化与caspase3表达的相关性研究

目的 探讨Aβ所致阿尔茨海默病(AD)模型大鼠Akt的磷酸化水平与caspase 3在海马结构神经元的表达及其分布.方法 选用24只3月龄雄性Wistar大鼠随机分为对照组和模型组(侧脑室注射10μgAβ25-35).免疫组化方法观察caspase-3在海马结构神经元(海马CA1、CA3和齿状回)的表达;Western blot方法检测海马结构神经元Akt的磷酸化水平.结果 模型组海马结构3个亚区神经元的caspase-3的平均光密度值均较对照组明显增高(P＜0.01);模型组P-Akt的表达量较对照组明显下调(P＜0.05).结论 Aβ25-35可能是通过下调Akt的磷酸化水平促进caspase-3的表达,进而导致海马结构神经元的凋亡.     

充血性心力衰竭大鼠的大脑海马区TGF-β1表达的变化

目的研究充血性心力衰竭大鼠的大脑海马区TGF-β1变化。方法将85只成年雄性sD大鼠随机分为正常组5只、假手术组40只、模型组40只,假手术组和模型组观察时间点为术后1、2、4、8周。采用腹主动脉部分缩窄术。建立大鼠慢性充血性心力衰竭模型。应用超声心动图动态监测左室舒张末期内径（LVEDd）,舒张末期室间隔厚度（IVSd）和左室后壁厚度（LVPWd）;解剖心脏,计算心肌质量指数[心质量／体质量（HW／BW）和左室质量／体质量（LVW／BW）],免疫组织化学染色法检测大脑海马区TGF-β1表达变化。结果模型组LVEDd、IVSd、LVPWd高于正常组和假手术组,且呈时间依赖性上升趋势（P〈0．01）。模型组心肌质量指数与正常组和假手术组比较,差异有统计学意义（P〈0．01）。模型组TGF-β1表达量明显高于假手术组。结论压力超负荷性心力衰竭发生过程中大脑海马区TGF-β1表达量明显增高。     

Clinical, biochemical and pathological features of initial and repeat transrectal ultrasonography prostate biopsy positive patients

BACKGROUND: Using sextant biopsy, 16-41% of prostate cancers were diagnosed on repeat biopsy. The objective of the present study was to compare the differences in the clinical, biochemical and pathological features between patients with positive results on initial and repeat biopsies, with an aim to identify factors that can be used to improve the detection rate of transrectal ultrasound (TRUS) biopsy of the prostate. METHODS: Between February 2000 and April 2001, 222 patients with a mean age of 64 years (range 38-85) underwent TRUS-guided 10-core prostate biopsy for either abnormal prostate specific antigen (PSA) levels (>4 ng/mL) and/or abnormal digital rectal examination (DRE). Of this number, 165 patients underwent their first biopsy, whereas 45 and 12 patients had had one or two previous biopsies, respectively. RESULTS: Prostate cancer detection rates for the initial biopsy group (n = 165), second biopsy group (n = 45) and third biopsy group (n = 12) were 29.7, 23.0 and 41.7%, respectively. Six patients who had a negative first 10-core biopsy underwent a second 10-core biopsy and one patient (16%) was found to have cancer. Apart from total prostate volume, there were no significant statistical differences between the patient age, mean total PSA, PSA density, PSA-transition zone density, DRE and TRUS findings between the initial and repeat biopsy groups of subjects who had cancer. Those who had cancer detected only on repeat biopsies had larger prostate glands (P = 0.041). CONCLUSION: Patients who had cancer detected only on repeat biopsies had bigger prostate glands, supporting the hypothesis that TRUS sextant biopsy as a technique suffers the error of under-sampling in a bigger prostate.     

Can normal saline be used to fill the balloon of a Foley catheter? The experience of a prospective randomized study in China

BACKGROUND: Despite the lack of evidence, using normal saline for inflating the balloon of a Foley urethral catheter is frequently regarded as a cause for deflation failure. We have investigated the issue by comparing the rate of deflation failure of Foley catheter balloon, using either sterile water or normal saline as the filling solution. METHODS: Four thousand latex Foley urethral catheters (14 Fr) were randomly assigned to one of two groups: sterile water or normal saline. Each of the catheter balloons would then be inflated with 10 mL of the corresponding fluid. They were subsequently put in water baths at 37 degrees C for 4 weeks. At the end of 4 weeks, all the balloons were deflated by people who were blind to the assignment of fluid inflated. Failure of deflation was defined as the balloon not being able to be deflated completely. The number of deflation failures was recorded and the amount of fluid aspirated from each balloon was also noted. RESULTS: Of the 4000 catheters, 17 (0.43%) were found to be defective and could not be used for the study. The remaining 3983 catheters were randomly allocated into the sterile water (2011) and normal saline (1972) groups. The failure rate of deflation for the sterile water group and normal saline group were 185 (9.2%) and 157 (8.0%), respectively, which was not statistically significant (P = 0.162). CONCLUSION: There was no difference in the rate of deflation failure of latex Foley balloons by using either sterile water or normal saline as the filling solution.     

Survivin基因多态性与中国人群肿瘤易感性的Meta分析

目的：探讨survivin基因启动子－31G／C多态性与中国人群肿瘤易感性的关系。方法：在Pubmed、Medline和中国期刊网全文数据库等数据库中检索相关中外文文献,制定文献纳入及排除标准,运用statal1．0软件进行Meta分析,计算合并的比值比（0R）及95％可信区间（CI）。结果：在中国人群中,survivin基因启动子－31G／C位点携带C碱基的肿瘤易感性是携带G碱基的1．30倍（OR=1．30,95％CI：1．08～1．56）,且携带C／C基因型比携带其他基因型更容易导致肿瘤的发生。结论：survivin基因启动子－31G／C位点可能是中国人群肿瘤的一个重要分子标记物。     

CBCT和数字曲面体层片在颌骨后牙区牙种植术中应用研究

目的探讨CBCT与数字曲面体层片在牙种植术中的应用价值。方法 50例(58颗)牙种植治疗患者同时采用CBCT和数字曲面体层检查方法,将得到的术前颌骨牙槽骨量和术后骨结合的影像结果对照,分析差异性。结果下颌后牙区牙槽骨量不足CBCT检出阳性率为28.57%;数字曲面体层影像检查检出阳性率为7.14%。经过χ2检验,P<0.05,差异有统计学意义。上颌后牙区牙槽骨量不足CBCT和数字曲面体层影像检查检出阳性率分别为36.36%、9.09%。经过χ2检验,P<0.05,差异有统计学意义。种植牙术后3个月种植体未发生骨结合的阳性率,CBCT检出阳性率为3.45%(2/58);数字曲面体层片检出阳性率为8.62%(5/58),两者无统计学差异(P>0.05),实际临床检测发现仅1例未发生骨结合,阳性率为1.72%(1/58)。结论 CBCT是种植牙术前目前颌骨骨量测量较为可靠方法。CBCT与数字曲面体层片相比,数字曲面体层片存在变形,牙槽骨高度数据测量值普遍偏大。在术后检查中CBCT能更清晰地反映种植体周围骨质,评估种植手术的成功与否及对上部结构的修复有重要的指导意义。