合并神经原性膀胱活动低下非瘫痪脊髓功能障碍患者生命质量评估和尿动力学研究

Objective To investigate the change of quality of life and urodynamics after the enterocystoplasty combined with clean intermittent self-catheterisation (CISC) in nonparalytic spinal cord dysfunction (NSCD) patients with neurogenic underactive bladder by the Medical Outcomes study 36-item short-form general health survey (SF-36). Methods The quality of life of 72 NSCD patients with NUB were measured by SF-36 questionnaire, who had been taken enterocystoplasty combined with CISC or only CISC according to urodynamic results. In total, 58(81% ) patients were successfully followed for one year by SF-36 questionnaire and urodynamic examination, including 30 men (mean age 27±5 year) and 28 women (mean age 26±4 year). The normal volunteers without lower urinary tract symptom were set as control group, including 20 men (mean age 28 ± 4 year) and 20 women (mean age 29±4 year). Results At the follow-up, physical role, vitality and social function of men and women were 55±14 and 45±15, 76±19 and 74±15, 52±19 and 59±13 respectively, significantly higher than those before the treatment (35 ± 10 and 32 ±11, 27 ± 18 and 33 ± 17, 40 ±12 and 34 ±15). The bladder compliance and maximum cystometric capacity were (320 ± 44 ) ml and ( 338 ±50)ml,(55±15)cm H2O and (60±17)cm H2O respectively, also significantly higher than those before the treatment (131±30ml and 140±35ml,5±3 cm H2O and 6±4 cm H2O). However, detrusor leakage point pressures were (6±2)cm H2O and (6±3)cm H2O respectively, significantly lower than those before the treatment (28 ±9 cm H2 O and 25 ± 6 cm H2O). Except for physical function and bodily pain, the all domains of quality of life in both men and women patients were significantly lower than those in control group. Only 17 % of men and 7 % of women believed "their health is better than that one year ago". There was no significant difference in the remission rate between men and women (89% vs 76%) in the patients with RUUTD before treatment. Conclusions It is suggested that urodynamic parameters are significantly improved. Many domains of quality of life were not improved and the reduced quality of life still occurred in NSCD patients with NUB using enterocystoplasty and CISC.     

膀胱癌与UGT1A7 T622C基因多态性的相关性

目的探讨尿苷二磷酸葡萄糖醛酸转移酶1A7（UGT1A7）T622C基因多态性与膀胱癌易感性的关系。方法以病例对照研究方法,应用聚合酶链反应-限制性片段长度多态性方法（PCR—RELP）分别检测145例膀胱癌患者和160例非肿瘤人群UGT1A7 T622C基因多态性,对各基因型单独或联合吸烟行为进行统计学分析。结果膀胱癌组UGT1A7T622C突变型（T／C＋C／C）频率[53．1％（77／145）]高于对照组[40％（64／160）],两组间差异有统计学意义[P〈0．05;比值比（OR）=1．70（95％可信区间：1．08～2．68）]。吸烟人群中UGT1A7 T622C突变型（T／C＋C／C）的个体膀胱癌的发病风险高于野生型个体（T／T）,差异有统计学意义[P〈0．05,OR=2．16（95％可信区间：1．07～4．38）]。uGT1A7 T622C基因多态性与膀胱癌病理分级和临床分期均无相关性（P〉n05）。结论UGT1A7 622C基因多态性与膀胱癌易感性有关,该基因多态性与吸烟行为在膀胱癌的发生过程中存在交互作用。     

成人肾母细胞瘤的诊治及文献复习

肾母细胞瘤（nephroblastoma）是儿童常见的恶性肿瘤，成人肾母细胞瘤则罕见，临床诊断治疗经验不多。我院自1997年至今收治成人肾母细胞瘤2例，结合文献报道如下。     

输尿管镜下钬激光碎石术治疗输尿管结石

目的探讨输尿管镜下钬激光碎石术治疗输尿管结石的疗效及技术特点。方法对217例输尿管结石患者采用经尿道输尿管镜下钬激光碎石术治疗,其中输尿管上段结石33例,中下段结石184例;合并息肉29例,合并输尿管狭窄6例;合并息肉时行息肉切除,合并输尿管狭窄时行狭窄段切开。结果207例一次碎石成功(95.40%),10例结石上移进入肾盂,术后用体外冲击波碎石术(ESWL)治疗排出结石6例,二次行钬激光碎石治疗4例,均获成功。碎石时间6~55m in,结石排净时间为3d~6周。结论输尿管镜下钬激光碎石术治疗输尿管结石是一种微创、安全、高效、可重复的手术方法。     

河南地区汉族人群药物代谢酶CYP2C19，NAT2和TPMT基因多态性分析(英文)

目的：了解细胞色素P450(cytochromes P450,CYP)2C19,N-乙酰基转移酶2(arylamine N- acetyltransferase 2,NAT2)和硫嘌呤甲基转移酶(thiopurine S-methyltransferase,TPMT)基因常见的遗传多态性在河南地区汉族人群中的分布及其频率。方法：应用聚合酶链反应-限制性片段长度多态性分析(PCR-RFLP)对210名河南地区汉族人群的CYP2C19突变基因(*2和*3)、NAT2突变基因(*6和*7)和TPMT突变基因(*3A,*3B和*3C)进行检测。用聚合酶链反应-等位基因特异性扩增(PCR-ASA)对NAT2突变基因(*5)和TPMT突变基因(*2)进行检测。结果：CYP2C19*2和*3等位基因分布频率分别为34．76%和6．4%,同时携带2个等位突变基因的慢基因型频率占14．8%。NAT2*4(wt),*5(341C),*6(590A)和*7(857A)等位基因分布频率分别为59．1%,4．1%,26．4%和9．5%,慢基因型分布频率占19．5%。TPMT*3C等位基因分布频率为1．2%,未发现TPMT*2,TPMT*3A或TPMT*3B。结论：CYP2C19,NAT2和TPMT基因常见的遗传多态性在汉族人群中的分布及其频率与白人存在明显差异,这将有助于我国汉族人群临床药动学研究和给药剂量的确定。     

电刺激联合盆底肌训练治疗女性压力性尿失禁合并特发性逼尿肌过度活动的疗效观察

Objective To investigate the short-term efficacy of pelvic floor electrical stimulation (PFES) and pelvic floor training (PFT) for female with idiopathic detrusor overactivity (IDO) and stress urinary incontinence (SUI). Methods PFES and PFT were performed on 70 women (average age 40±7 years old) with IDO and SUI for twelve weeks. Urinary diary, International Continence In-quiring Committee's Questionnaire (ICI-Q-SF) scores were recorded and urodynamic study was per-formed before and after the treatment. Results Fifty women (71%) finally completed treatment for twelve weeks. Urinary incontinence disappeared in 8 (16%), detrusor overactivity disappeared in 10 (20 %). The leakage was not found in 6 (12 %) in leakage point pressure measurement. Moreover, the frequency of voiding (28±5 times/72 h), frequency of leakage (10±5 times/72 h), total scores of ICI-Q-SF(10±3), max detrusor uninhibited contraction pressure (18±8 cmH20) and detrusor unin-hibited contraction duration (8±3 s) were significantly lower than those before treatment (43±8 times/72 h, 20±6 times/72 h, 17±3, 27±9 cm H2O and 13±6s,P<0.01). Maximal voided vol-ume(225±48 ml), normal desired cystometric capacity (210±48 ml), maximal cystometric capacity (247±48 ml), Valsalva leak point pressure (94±11 cm H2O) and maximal urethral closure pressure (59±8 cm H2O) were significantly higher than those before treatment (159±37 ml, 141±39ml, 178±36ml, 81±15 cm H2O and 55±8 cm H2O, P<0.01). The effective rate during three months follow up was 60%, similar to time after treatment (P>0.05). Conclusions Pelvic floor electrical stimulation and pelvic floor training could be a useful therapy to treat women with IDO and SUI. It is both convenient and economical.     

肿瘤相关基因MN在肾肿瘤中的表达及临床意义

目的探讨肿瘤相关基因MN在鲁肿瘤中的表达及临床意义。方法应用免疫组织化学技术对61例肾肿瘤组织及9例正常肾组织中MN的表达进行研究。结果除1例嫌色细胞癌外,所有恶性肾肿瘤中MN均呈阳性表达,相反在所有良性肾肿瘤及正常肾组织中表达阴性。结论MN的表达与肾细胞癌密切相关,可作为肾细胞癌诊断和治疗过程中的一种具有重要价值的生物学标记物。     

电刺激联合盆底肌训练治疗女性压力性尿失禁合并特发性逼尿肌过度活动的疗效观察

Objective To investigate the short-term efficacy of pelvic floor electrical stimulation (PFES) and pelvic floor training (PFT) for female with idiopathic detrusor overactivity (IDO) and stress urinary incontinence (SUI). Methods PFES and PFT were performed on 70 women (average age 40±7 years old) with IDO and SUI for twelve weeks. Urinary diary, International Continence In-quiring Committee's Questionnaire (ICI-Q-SF) scores were recorded and urodynamic study was per-formed before and after the treatment. Results Fifty women (71%) finally completed treatment for twelve weeks. Urinary incontinence disappeared in 8 (16%), detrusor overactivity disappeared in 10 (20 %). The leakage was not found in 6 (12 %) in leakage point pressure measurement. Moreover, the frequency of voiding (28±5 times/72 h), frequency of leakage (10±5 times/72 h), total scores of ICI-Q-SF(10±3), max detrusor uninhibited contraction pressure (18±8 cmH20) and detrusor unin-hibited contraction duration (8±3 s) were significantly lower than those before treatment (43±8 times/72 h, 20±6 times/72 h, 17±3, 27±9 cm H2O and 13±6s,P<0.01). Maximal voided vol-ume(225±48 ml), normal desired cystometric capacity (210±48 ml), maximal cystometric capacity (247±48 ml), Valsalva leak point pressure (94±11 cm H2O) and maximal urethral closure pressure (59±8 cm H2O) were significantly higher than those before treatment (159±37 ml, 141±39ml, 178±36ml, 81±15 cm H2O and 55±8 cm H2O, P<0.01). The effective rate during three months follow up was 60%, similar to time after treatment (P>0.05). Conclusions Pelvic floor electrical stimulation and pelvic floor training could be a useful therapy to treat women with IDO and SUI. It is both convenient and economical.     

胸腰椎椎旁占位性病变的临床分型和手术方案选择

【摘要】 目的：提出胸腰椎椎旁占位性病变新的临床分型并评价其对手术治疗方案选择的参考价值。方法：收集2013年1月~2019年12月接受手术切除治疗的35例胸腰椎椎旁占位性病变患者的临床资料,其中男15例,女20例,年龄7～70岁（42.4±16.1岁）。后正中入路6例,经椎旁肌间隙切除横突入路7例,腹膜后间隙入路17例,病变后方直接切除5例。依据占位病变的影像学特点,将胸腰椎椎旁占位性病变按部位分为3型：Ⅰ型,病变位于椎体旁,小部分沿神经根向椎间孔生长,未突入中央椎管;Ⅱ型,病变位于椎体旁椎间孔之外;Ⅲ型,病变位于椎弓后方的竖脊肌。每型按占位大小进一步分为a、b两个亚型,病变长轴≤50mm为a型,＞50mm为b型。3名观察者先后进行两次评估分型（间隔1周）,并进行Kappa一致性检验。手术前后及末次随访时行疼痛VAS评分,并结合影像学复查进行疗效评定。结果：35例患者中Ⅰa型4例,Ⅰb型3例,Ⅱa型9例,Ⅱb型14例,Ⅲa型3例,Ⅲb型2例。3位观察者分型自身一致性的Kappa值为0.924～1,观察者之间一致性的Kappa值为0.849～0.924,均高度一致。6例经后正中入路切除患者为胸段Ⅰa（1例）、Ⅱa（5例）型,7例经椎旁肌间隙入路切除患者为腰段Ⅰa（3例）、Ⅱa（4例）型,17例经腹膜后间隙入路切除患者为腰段Ⅰb（3例）、Ⅱb（14例）型,5例病变后方直接切除患者为胸、腰段Ⅲa（3例）、Ⅲb（2例）型。34例一期全切,1例未能全部切除。术后患者症状明显缓解,神经功能均未见明显缺失。33例患者获得3～90个月（42.5±33.3个月）随访,其中32例复查MRI未发现病变复发,1例脂肪肉瘤复发。VAS评分术前为7.7±1.6分,术后1个月2.4±1.3分,末次随访时1.2±1.1分。结论：基于胸腰椎椎旁占位性病变的部位和大小,进行合理临床分型,并制定相应的手术治疗策略能够获得良好的临床疗效。