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。     

口腔科首诊颈侧区无痛性肿块175例回顾性分析

目的:总结颈侧区非涎腺、非甲状腺无痛性肿块的临床分布规律及与年龄的关系。方法:对2005～2012年6月收治的175例颈侧区无痛性肿块临床资料进行回顾性分析。结果:175例颈侧区无痛肿块,40岁以下各组良性肿块多见,40岁以上各组恶性肿块多见。肿块中肿瘤107例,炎症40例,畸形28例。结论:颈侧区非涎腺、非甲状腺无痛性肿块性质与年龄存在关系,40岁以下良性肿块多见,40岁以上恶性肿块多见。本组病例中,肿瘤多见,肿瘤中恶性肿瘤多见,其中40岁以下患者恶性肿瘤以淋巴瘤占首位,40岁以上患者以转移癌多见。     

颈静脉球内侧壁的临床解剖研究

目的 探讨颈静脉球内侧壁的解剖学特点,为颈静脉球部位的外科手术提供理论指导。方法显微镜下解剖15具经福尔马林固定乳胶灌注的成人头颅标本颈静脉球部位,观察颈静脉球内侧壁部位的结构特点及神经走行关系;在5具干颅骨标本上观察颈静脉球内侧壁的骨性标志。 结果 颈静脉孔内口、颞骨颈静脉突、枕骨颈静脉突、硬脑膜及经该部位穿行的Ⅸ、Ⅹ、Ⅺ颅神经共同构成了颈静脉球内侧壁;在颈静脉球内侧壁自前上往后下做一弧形斜线,斜线的前下位置为神经部,为神经纤维束穿行部位;后上部位为静脉部位,颈静脉球壁与颞骨岩部及硬脑膜紧贴;舌咽神经走行在前上位置,多数有岩下窦的开口将之与迷走神经分隔,中间有条索状的纤维组织分隔。迷走神经和副神经在颈静脉球内侧壁走行关系密切,本组有26侧(86.67％)舌咽神经与迷走神经之间有硬脑膜间隔,4侧(13.33％)硬脑膜间隔不明显。迷走神经和副神经无明显间隔穿人颈静脉球内侧壁,多数迷走神经与副神经容易区分;舌下神经经舌下神经管走行在颈静脉球内侧壁的下方。结论颈静脉孔内口、颞骨岩部的部分骨质、枕骨的部分骨质、后组颅神经、硬脑膜及静脉壁共同组成颈静脉球的内侧壁,了解该部位的解剖学特点能够对颈静脉球部位手术提供理论指导,减少手术并发症。