Association between the IL7R T244I polymorphism and multiple sclerosis risk: a meta analysis

The aim of this study was to explore the association between the IL7R T244I polymorphism (rs6897932) and susceptibility of multiple sclerosis (MS). A comprehensive literature search for relevant studies was conducted on Google scholar, PubMed, the Chinese National Knowledge Infrastructure (CNKI) and the Chinese Biomedical Literature Database (CBM). This meta-analysis was performed using the STATA 11.0 software and the pooled odds ratio (OR) with 95 % confidence interval (CI) was calculated. Seventeen case–control studies were included in this meta-analysis. In total, 17 articles provided data for 15,270 cases and 17,971 controls. The results showed significant association between the IL7R T244I polymorphism and susceptibility to MS (OR = 1.125, 95 % CI: 1.016–1.245, p = 0.024 for C vs. T; OR = 1.176, 95 % CI: 1.078–1.282, p < 0.001 for CC + CT vs. TT; OR = 1.243, 95 % CI: 1.088–1.421, p = 0.001 for CC vs. TT). Stratified analysis of ethnicities also showed significant association in Europeans. However, no association was found in Asians. This study suggested that the IL7R C allele was associated with an increased risk of MS and larger-scale studies of populations are needed to explore the roles played by the IL7R T244I polymorphism during the pathogenesis of MS.     

Determining the Cost-Savings Threshold for HIV Adherence Intervention Studies for Persons with Serious Mental Illness and HIV

Persons with serious mental illnesses are at increased risk for contracting and transmitting HIV and often have poor adherence to medication regimens. Determining the economic feasibility of different HIV adherence interventions among individuals with HIV and serious mental illness is important for program planners who must make resource allocation decisions. The goal of this study was to provide a methodology to estimate potential cost savings from an HIV medication adherence intervention program for a new study population, using data from prior published studies. The novelty of this approach is the way CD4 count data was used as a biological marker to estimate costs averted by greater adherence to anti-retroviral treatment. Our approach is meant to be used in other adherence intervention studies requiring cost modeling.     

Further evidence of VRK2 rs2312147 associated with schizophrenia

Objectives: Previous genome-wide association studies (GWAS) have reported that rs2312147 near the VRK2 gene was significantly associated with schizophrenia in populations of European descent, but negative results have also been observed.

Methods: To perform a systematic meta-analysis, we collected statistical data of rs2312147 from both GWAS and individual replication samples in European and Asian populations, which finally included up to 30,867 schizophrenia patients and 59,863 healthy controls.

Results: The VRK2 rs2312147 was genome-wide significantly associated with schizophrenia in combined populations (P?=?1.31?×?10^?15, odds ratio, OR?=?1.10) as well as in Europeans only (P?=?2.35?×?10^?12, OR =1.09). In Asian samples, the SNP did not reach genome-wide level of statistical significance (P?=?1.23?×?10?^??⁵, OR =1.19), which is likely due to the limited power of small sample size in this population (2,974 cases and 4,786 controls). However, the effect size of rs2312147 did not alter significantly between populations, and is also in agreement with the observed effect sizes of other genetic risk loci in large scale studies.

Conclusions: Our data provides further evidence for the genetic contributions of VRK2 rs2312147 to schizophrenia susceptibility especially in Europeans, while further replication analyses in Asian populations are still needed, and future studies, e.g., the underlying molecular mechanisms of genetic risk, are necessary.     

补阳还五汤对脑出血大鼠PI3K/AKT信号通路的影响及其神经保护作用的机制

目的观察并探究补阳还五汤对脑出血大鼠脑组织磷脂酰肌醇3激酶/丝氨酸/苏氨酸蛋白激酶(PI3K/AKT)信号转导通路的影响及其神经保护作用的可能机制。方法 72只SD大鼠随机分为四组:假手术组、模型组、补阳还五汤组、银杏叶片组,每组18只。其中模型组、补阳还五汤组、银杏叶片组采用Rosenberg法制作脑出血大鼠模型。Garcia法检测大鼠神经功能评分,电镜观察神经元线粒体超微结构,western blot法检测磷酸化蛋白激酶(p-AKT)蛋白表达,TUNEL法检测细胞凋亡变化,免疫组化法检测B细胞淋巴瘤基因-2(bcl-2)蛋白、Bcl-2相关X蛋白(bax)的表达,甲酰胺法检测血脑屏障(BBB)通透性,干湿重法检测脑组织含水量。结果与脑出血模型组相比,补阳还五汤治疗明显提高神经功能学评分(P0.05),降低BBB通透性,减少脑组织水含量(P0.05),上调p-AKT、bcl-2蛋白表达,下调bax蛋白表达,减轻线粒体损伤,抑制神经元凋亡。结论补阳还五汤抗脑出血引起脑损伤的作用机制可能与其激活PI3K/AKT信号途径,抑制神经元凋亡,降低BBB通透性,减轻脑水肿有关。     

组织因子表达对原发性结直肠癌侵袭及转移能力的影响

目的探讨组织因子(TF)表达在原发性结直肠癌侵袭及转移中的作用,分析TF对人类大肠癌HT-29细胞侵袭能力的影响.方法应用免疫组织化学染色法研究85例原发性结直肠癌和6例结直肠良性腺瘤标本TF表达情况,分析TF表达与肿瘤侵袭转移及预后的关系;利用构建有正义/反义TFcDNA的质粒pcDNA3.1/Zeo,以脂质体法转染HT-29细胞; 转染成功的HT-29细胞采用Western印迹分析检测TF表达水平并进行基质胶体外侵袭实验观察细胞侵袭能力的变化.结果85例结直肠癌标本中40例(47.1%)TF表达阳性,正常黏膜和结直肠良性腺瘤均为TF阴性表达;TF阳性表达与结直肠癌的浸润深度密切相关(r=0.895, P<0.01);TF阳性表达与结直肠癌的同时性(r=0.974, P<0.01)和异时性(r=0.963 ,P<0.01)肝转移均密切相关;Logistic回归表明TF表达为结直肠癌肝转移的影响因素(P<0.01),多因素回归分析表明TF表达是影响原发性结直肠癌预后的因素之一(P<0.01);转染了正义TFcDNA的HT-29细胞的TF表达水平较未转染的HT-29细胞升高,转染了反义TFcDNA的HT-29细胞的TF表达水平则降低;转染了正义TFcDNA的HT-29细胞的侵袭能力较未转染的HT-29细胞增强,转染了反义TFcDNA的HT-29细胞的侵袭能力则减弱.结论TF可能参与原发性结直肠癌侵袭及转移的生物学过程,其阳性表达可能作为患者术后肝转移的预测指标应用于临床,TF表达是影响原发性结直肠癌预后的因素之一; TF表达的改变可以影响人类大肠癌HT-29细胞的体外侵袭能力.     

肝癌门静脉癌栓的经皮激光消融治疗

目的 介绍肝癌门静脉癌栓激光消融治疗的方法,并探讨这一治疗方法的安全性和疗效。方法 对24例肝癌门静脉癌栓患者30支门静脉癌栓进行经皮肝穿刺激光消融治疗,观察术后患者癌栓支门静脉多普勒彩色血流图谱的变化及临床症状、肝功能和腹水等的变化情况。结果 术前30支门静脉癌栓支均无血流信号,术后1d有28支门静脉再次观察到彩色血流信号;术后7d30支门静脉癌栓支均观察到了多普勒彩色血流信号;术后30d有12支可观察到连续但不稳定的彩色血流信号,16支可观察到连续且稳定的再通血流信号;术后90d有18支可观察到连续且稳定的再通血流信号。临床症状、肝功能和腹水均得到了不同程度的改善。结论 肝癌门静脉癌栓的激光消融治疗有望成为一种疗效可靠、技术安全的门静脉癌栓治疗新方法。     

甲状腺乳头状癌Ⅵ区淋巴结的归属

目的 评价临床颈侧区淋巴结阴性(cN0)的甲状腺乳头状癌(PTC)患者行选择性颈侧淋巴结清扫的价值。方法 通过分析139例PTC患者(初治时为cN0)的复发和(或)转移部位(甲状腺,Ⅵ区,颈侧区,远处),把Ⅵ区淋巴结转移归入原发灶复发,明确与颈侧区淋巴结转移的区分,逆向分析评价cN0 PTC患者选择性颈侧清扫的临床价值。结果 PTC患者甲状腺复发83％(73／88),Ⅵ区转移76％(67／88),17例为已作选择性颈侧淋巴结清扫,占65％(17／26)。颈侧区淋巴结转移为17％(17／98),其中5例发生于已作选择性颈侧淋巴结清扫,占19％(5／26)。结论 支持对cN0 PTC患者行患侧腺叶切除加Ⅵ区清扫,不支持颈侧区(Ⅱ-V)的选择性颈侧淋巴结清扫。而对初治时为cN0,但术前超声和CT为N 的患者,则支持行颈侧区淋巴结的选择性清扫。在甲状腺癌诊治中,CT检查是必要的。     

经口咽前路寰枢椎复位钢板内固定的外科解剖学研究

目的为经口咽前路寰枢椎复位钢板内固定设计和应用提供解剖学依据。方法对10例新鲜的头颈部标本使用经口咽前入路进行逐层的显微外科解剖,观察咽后壁的层次、椎动脉的走行、寰枢椎的解剖毗邻关系和寰枢椎前路钢板内固定的相关解剖参数等。结果(1)咽后壁分两层和两个间隙粘膜层、椎前筋膜层,咽后间隙和椎前间隙;(2)经此入路可显露从枕骨大孔前缘至C3椎体的范围;(3)寰椎和枢椎椎动脉距中线的距离分别为寰椎(252±23)mm和枢椎(184±26)mm;(4)寰椎和枢椎可显露宽度分别为(394±22)mm和(390±21)mm,寰椎进钉点(侧块中点)间距(a)为(314±33)mm,寰椎进钉点连线与枢椎进钉点(枢椎前表面中部上关节面内缘连线与前唇下缘线之间的等距离线位于矢状中线两侧旁开3～4mm的位置)连线的垂直间距(b)为(187±27)mm,a/b比值为15～17。结论经口咽前入路行寰枢椎前路钢板内固定可行,钢板的设计应以上述测量数据为依据。     

四配子异源嵌合体导致的真两性畸形机制研究

目的 :报告 1例四配子异源嵌合体导致的真两性畸形并讨论其发病机制。　方法 :对 1例外生殖器模糊的患者外周血的淋巴细胞、经培养的皮肤成纤维细胞、两种不同性腺组织的成纤维细胞进行染色体核型分析 ,同时用X和Y染色体探针进行双色荧光原位杂交 (FISH) ;对患者红细胞血型、人类白细胞抗原 (HLA)和 77个短重复序列 (STR)微卫星标记进行检测 ;对患者性腺的 2种不同组织进行组织病理学检查 ;同时对患者的父母进行红细胞血型、HLA和STR检测。　结果 :患者外周血淋巴细胞、皮肤成纤维细胞、呈白色和黄色性腺组织的成纤维细胞染色体核型均为 4 6 ,XX/ 4 6 ,XY ;FISH检测所有细胞都显示了XX或XY的杂交信号。 4 6 ,XY的核型在外周血淋巴细胞、皮肤成纤维细胞和白色性腺组织的成纤维细胞中占优势 ;4 6 ,XX的核型在黄色性腺组织的成纤维细胞中占优势。外周血淋巴细胞及 3种不同组织培养物的STR位点检测、ABO血型分析和HLA检测都显示有 2个不同的单倍体来自父亲 ,1个单倍体来自母亲。组织病理学检查患者同一性腺上有两种不同组织 ,呈白色的组织是睾丸 ,呈黄色的组织是卵巢。　结论 :性腺组织病理学检查、染色体核型分析、FISH是鉴定真两性畸形患者的有效方法 ,红细胞血型、HLA和STR可为鉴定四配子异源嵌合体提供?     

经尿道前列腺电切术后膀胱颈挛缩多因素分析

目的 :对经尿道前列腺电切术 (TURP)后膀胱颈挛缩 (BNC)发生的各种可能因素进行分析 ,探讨减少该并发症的途径。　方法 :对 10 17例行TURP患者中发生BNC的 2 4例进行统计学分析 ,在手术方法、前列腺电切重量、单位时间前列腺组织电切重量、置管时间、高频发生器类型及有无糖尿病、尿潴留及前列腺炎等方面进行比较 ,了解其可能发生的因素。　结果 :TURP术后BNC发生率明显高于开放手术病例 ,小前列腺、单位电切时间长、高频发生器功率大及术前前列腺炎患者易发生BNC(P <0 .0 5 ) ,而术前尿潴留、糖尿病及术后置管时间对BNC发生无明显影响 (P >0 .0 5 )。　结论 :小前列腺、前列腺炎及电流损伤是发生BNC的重要因素 ,患者的选择及熟练精确的电切技术可减少BNC的发生。