创伤性脑损伤后基因表达谱数据的权重基因共表达网络分析

目的:通过对创伤性脑损伤（TBI）后脑组织的基因表达谱数据进行权重基因共表达网络分析（WGCNA）,筛选具有重要意义的基因集,并明确其涉及的功能及信号通路,为TBI的机制研究和治疗提供参考。方法:在基因表达数据库（GEO）中下载大鼠TBI基因表达谱数据GSE2871,将全部47个大鼠脑组织样本的8 799个基因的表达情...     

人精氨酸/丝氨酸丰富剪接因子1在膀胱尿路上皮癌中表达及临床意义

目的探讨人精氨酸/丝氨酸丰富剪接因子1(SRSF1)在膀胱尿路上皮细胞癌的表达及其临床意义。方法应用免疫组化方法检测41例膀胱尿路上皮癌及10例正常膀胱尿路上皮中SRSF1的表达情况。结合临床资料以及分析SRSF1与病理分期,组织学分级和复发转移情况的关系。结果 SRSF1在膀胱尿路上皮细胞癌的阳性表达率为83(34/41),而对照组的阳性率为10.0%(1/10),两组间比较差异有统计学意义(P<0.01)。SRSF1的阳性表达与膀胱尿路上皮癌的初发和复发、是否转移显著相关(P<0.05);但在病理分期,组织学分级和肿瘤数量无显著差异。结论 SRSF1在膀胱尿路上皮细胞癌的表达明显上调,并且与膀胱尿路上皮癌的复发及转移密切相关,SRSF1可能通过与肿瘤基因相互作用,调控细胞周期及凋亡等多途径,参与肿瘤的发生及发展。SRSF1可用于膀胱上皮细胞癌早期诊断和复发、转移的一项重要指标。     

胰岛素样生长因子受体2在膀胱尿路上皮癌组织中表达及其临床意义

目的探讨胰岛素样生长因子受体2(IGF2R)在膀胱尿路上皮癌组织中的表达及其临床意义。方法选取中国医科大学肿瘤医院自2010年5月至2017年5月确诊膀胱尿路上皮癌患者135例为研究对象。应用实时荧光定量聚合酶链式反应检测15例膀胱尿路上皮癌组织及癌旁正常膀胱黏膜组织中IGF2R的mRNA表达水平。采用免疫组化法检测120例膀胱尿路上皮癌组织中IGF2R的蛋白表达水平。分析IGF2R的表达水平与膀胱癌临床病理特征及预后的相关性。结果 IGF2R在膀胱尿路上皮癌组织中的表达,显著低于癌旁正常膀胱黏膜组织,差异有统计学意义(P<0.05)。单因素分析显示,IGF2R低表达、临床分期、肿瘤分期、淋巴结转移与膀胱癌患者的死亡风险密切相关(P<0.05)。多因素分析显示,IGF2R低表达、临床分期、淋巴结转移为膀胱癌患者总存活期的独立预测因素(P<0.05)。Kaplan-Meier生存曲线表明,IGF2R低表达患者的5年存活率明显低于高表达患者(P<0.05)。结论 IGF2R在膀胱尿路上皮癌组织中低表达,且为膀胱尿路上皮癌患者不良预后的独立预测因素。检测IGF2R的表达对膀胱癌患者生存预后的预测具有重要参考价值。     

经尿道钬激光或铥激光膀胱袖状切除术在上尿路尿路上皮癌治疗中的应用(附14例报告)

目的:探讨采用经尿道钬激光或铥激光膀胱袖状切除术处理末段输尿管在上尿路尿路上皮癌治疗中的临床应用价值。方法:2009年8月至2017年5月,肾盂、输尿管癌患者14例,行经尿道钬激光或铥激光膀胱袖套状切除术及后腹腔镜下肾输尿管全切除术。先取截石位,行尿道膀胱镜检查,经膀胱镜置入钬激光或铥激光光纤,经患侧输尿管口置入或不置入输尿管导管,距输尿管口外周约0.5 cm处环形切割膀胱壁,深度达膀胱外脂肪组织,激光配合镜体上推游离输尿管下段约3 cm,使输尿管脱离膀胱壁,留置导尿。改健侧卧位,行后腹腔镜下肾输尿管全长切除术。术后定期膀胱灌注及膀胱镜检查。结果:14例均完成经尿道钬激光或铥激光膀胱袖状切除术。经尿道激光膀胱袖状切除时间14～25 min,平均17.3min。术后住院天数7～11 d,平均8.3 d;术后无感染、出血及明显尿外渗等并发症。11例术后随诊6～48个月,1例12个月后出现局部复发伴肝转移。无膀胱内新发肿瘤。结论:在上尿路尿路上皮癌的治疗中,经尿道钬激光或铥激光膀胱袖状切除术处理末段输尿管安全、可行,损伤小、并发症少、效果确切,是上尿路尿路上皮癌根治术中处理末段输尿管较理想的方法。     

肺鳞癌PD-L1共表达基因及转录调控网络分析

目的 绘制肺鳞癌中细胞程序性死亡配体1(PD-L1)共表达基因关系网络,筛选潜在的PD-L1协同检测生物标志物,寻找可能参与PD-L1调控肿瘤免疫状态的基因及通路.方法 采用TCGA肺鳞癌数据集,利用cBioPortal数据分析平台进行共表达基因集检索,从全基因转录组水平对PD-L1的共表达基因进行Venny分析,筛选目标基因,进行多种类型的聚类和分子关系网络分析,并建立PD-L1调控网络.结果 共获得PD-L1中等程度表达相关基因126个,主要为质膜定位型基因,功能集中在免疫调节过程,其中IRF2/NFKB 1/IRF1三个转录因子参与了对PD-L1基因集30％以上基因的转录调控.经过PD-L1共表达基因集的核心分子筛选,分析网络节点连接度,得到具有最高连接度的前6个节点基因,依次为IFNG、JAK2、STAT1、CTLA4、CD80和CCR5,对这些基因不同表达水平的肺癌患者的生存情况进行分析,结果显示CCR5是一个有意义的预后指标分子.进一步对PD-L1和CCR5的表达谱数据进行相关性分析,结果显示CCR5与PD-L1表达谱水平的Pearson相关系数为0.47(P＜0.05);GO-BP聚类分析显示,CCR5的功能主要聚集在免疫调控、T细胞调控、细胞信号转导等领域,与PD-L1调控网络的功能相符.结论 PD-L1共表达基因集内的主要节点均为免疫相关分子,其中IFNG、CCR5、NFKB1分子对PD-L1共表达基因网络具有最广泛的调控作用,该发现为肺鳞癌免疫治疗的研究和应用奠定了一定基础.     

公共数据库GEO分析TGFB1I1在胃癌中表达及临床意义

目的利用在线表达谱芯片数据,探讨转化生长因子-β1诱导转录蛋白1(TGFB1I1)在胃癌中的表达情况与临床病理学参数的关系,评价TGFB1I1对胃癌的预后价值。方法利用GEO数据库的胃癌数据集GSE62254和K-M plotter数据库,分析TGFB1I1表达与临床病理参数的相关性及预后。采用基因集富集分析(GSEA)预测TGFB1I1在胃癌中调控的相关基因。结果 TGFB1I1在GSE62254中的表达与性别、年龄无关;与肿瘤浸润深度(P<0.01)、淋巴结转移(P<0.05)、肿瘤分期(P<0.01)、Lauren分型(P<0.01)显著相关。TGFB1I1的表达与胃癌患者的复发和死亡显著相关(P<0.01)。K-M plotter数据库进一步验证,TGFB1I1高表达患者生存期更短(P<0.01)。TGFB1I1高表达的肿瘤样本中富集到粘着斑、细胞外基质受体、钙通路及细胞间隙连接等基因通路。结论利用在线数据库,发现TGFB1I1的表达与胃癌的预后不良临床参数显著相关,TGFB1I1高表达的患者预后更差,并且可以调控细胞粘附、转移相关的分子通路。     

糖尿病心肌病关键基因及潜在靶向药物筛选

目的 通过对GEO数据库中糖尿病心肌病(DCM)的基因芯片进行分析,筛选出DCM的关键基因并探索潜在的靶向药物。方法 从GEO数据库中下载基因表达数据集GSE161052和GSE161931。选取基因集进行差异基因分析,构建加权基因共表达网络。使用String软件进行蛋白质-蛋白质相互作用(PPI)分析。使用Cibersort工具评估免疫细胞在样本中的浸润比例。使用DGIdb数据库搜索靶向生物标志物的潜在药物。结果 FKBP5、CYP2B6和RET是DCM的关键基因。NTN1与SLIT3、CYP1B1与CYP2B2具有较强的相互作用。RET与NK细胞呈正相关(P<0.05);FKBP5与CD8+T细胞、T细胞共抑制细胞、Th1呈负相关(P<0.05);CYP2B6与B细胞、Ⅱ型INF呈负相关(P<0.05)。蒿甲醚、氯氮平和AST-487的活性成分分别与CYP2B6、FKBP5和RET基因靶点结合时显示出最强的结合活性。结论 FKBP5、CYP2B6和RET通过不同分子途径在DCM的发生发展中起着关键作用。蒿甲醚、氯氮平和AST-487可能是治疗DCM的潜在靶向药物。     

血管成形术后再狭窄差异基因分析及机制探索北大核心CSCD

目的从分子水平探索支架内再狭窄(ISR)的关键基因,以及ISR的发病机制。方法通过基因表达综合(GEO)公共数据库获取GSE46560数据集,利用R语言的limma包分析获得ISR组与对照之间的差异表达基因(DEG),并对外周血的微阵列数据集进行加权基因相关网络分析(WGCNA),以探索ISR相关基因。为了鉴定枢纽基因,对DEG与关键模块中的交集基因进行了功能富集分析、通路分析和蛋白质-蛋白质相互作用(PPI)网络构建。通过蛋白质免疫印迹验证靶基因。结果ISR组和对照组共鉴定出243个DEG,其中有109个上调,有134个下调。WGCNA蓝色模块包含2934个基因,是GSE46560数据集中与ISR相关系数最高的模块。筛选DEG和WGCNA交集基因,有ITPK1、SMG9。GO富集和KEGG分析表明,基因主要富集于蛋白磷酸化、细胞周期调节和细胞增殖,以及细胞衰老和TGF-β信号通路。在Cytoscape中,获得2个枢纽基因,为MCM2、RAD52。结论ITPK1、MCM2、RAD52可能是ISR发病机制特异性相关基因,为ISR的鉴定和治疗提供新的靶点。     

基于生物信息学的系统性红斑狼疮枢纽基因及治疗药物的分析

目的 通过生物信息学的方法分析系统性红斑狼疮（systemic lupus erythematosus,SLE）的差异表达基因（differentially expressed genes,DEGs）并进行药物预测,为探索SLE的病理机制、寻找潜在靶向药物提供方向。方法 从GEO数据库中下载GSE185047、GSE88884和GSE72509的基因表达数据,使用R语言limma包筛选出各个数据库DEGs并取交集,利用DAVID、STRING等数据库对DEGs富集分析并识别枢纽基因,此外,GSE50635被用来验证枢纽基因。进一步利用miRTarbase数据库识别调控枢纽基因的miRNA并构建miRNA-mRNA调控网络,最后使用DSigDB数据库筛选潜在治疗药物。结果 最终得到76个共同DEGs。GO富集分析表明DEGs主要涉及了病毒相关反应及Ⅰ型干扰素信号通路等生物学过程。KEGG富集到了甲型流感病毒、新型冠状病毒（COVID-19）及NOD样受体等信号通路。筛选获得了20个枢纽基因（STAT1、RSAD2、IFIT3、IFIH1、ISG15、DDX58、MX1、IFI44L、IF...     

多层螺旋CT尿路成像对引起血尿的非泌尿系统肿瘤的诊断

目的 探讨多层螺旋CT尿路成像(multislice spiral CT urography,MSCTU)对引起血尿的非泌尿系统肿瘤的诊断价值.方法 复习54例经手术病理证实引起血尿的非泌尿系统肿瘤的MSCTU资料,观察病灶部位、起源及与泌尿系统的关系,分析其导致血尿的原因.结果 54例非泌尿系统肿瘤中52例发生于盆腔,占96.30%(52/54).44例依据解剖部位可正确诊断肿瘤起源器官(81.48%,44/54).非泌尿系统肿瘤产生血尿的原因是输尿管受累28例、膀胱受累20例、输尿管与膀胱同时受累6例.与泌尿系统肿瘤不同,所有非泌尿系统肿瘤的最大径线均位于尿路之外.结论 MSCTU检查可帮助鉴别引起血尿的原因,对临床诊断和治疗具有重要指导意义.     

D-二聚体、纤溶酶原激活物抑制物在急性肾衰竭患者血液净化中的临床意义

目的探讨急性肾衰竭(ARF)时D-二聚体(D-D)、纤溶酶原激活物抑制物(PAI)在不同的血液净化方法中的动态变化及临床意义。方法对我院2007年1月—2010年3月急诊住院58例ARF患者血液净化前、净化后4 h及38例健康人进行血浆中D-D含量及PAI水平测定。ARF患者血液净化方法随机采用血液透析(HD)(31例)、血液透析滤过(HDF)(27例)。结果 ARF患者D-D含量及PAI水平较对照组明显升高[D-D(0.83±0.04)与(0.48±0.03)mg/L,P=0.000 2;PAI(14.95±0.73)与(8.03±0.30)103kat/L,P<0.0001;]HD治疗4 h后D-D含量和PAI活性较治疗前升高[D-D(0.89±0.05)与(1.48±0.37)mg/L,P=0.018;PAI(14.89±1.78)与(22.10±3.56)103kat/L,P=0.025],而HDF治疗后D-D含量和PAI无明显变化[D-D(0.91±0.06)与(1.12±0.09)mg/L,P=0.65;PAI(15.81±1.98)与(16.10±2.56)103kat/L,P=0.86]。结论 ARF患者D-D、PAI水平升高,存在凝血-纤溶系统的紊乱,HD可以加重这种改变,而采用HDF治疗可避免对患者凝血机能的影响,在急性肾衰竭治疗中有一定临床价值。     

高压氧辅助治疗对卒中后抑郁患者血清5-HT、NE及神经功能的影响

目的：观察高压氧（HBO）辅助治疗对卒中后抑郁（PSD）患者血清5-羟色胺（5-HT）、去甲肾上腺素（NE）及神经功能的影响。方法70例PSD患者根据数字表法随机分为2组,对照组（n=35例）采用常规措施治疗,观察组（n=35例）待确定活动性出血已稳定或已趋于稳定后,在对照组治疗基础上加用HBO治疗。两组疗程均为30d,比较两组患者治疗前后血清5-HT、NE表达水平及汉密尔顿抑郁量表（HAMD）、中国脑卒中量表（CSS）,改良Barthel指数（MBI）评分变化。结果两组患者治疗后血清5-HT、NE表达水平均明显升高（P<0.05）,且观察组升高较对照组更为显著（P<0.05）;两组患者治疗后HAMD、CSS评分明显降低（P<0.05）,而MBI评分明显升高（P<0.05）,且观察组降低或升高较对照组更为显著（P<0.05）。结论 HBO辅助治疗可明显升高PSD患者血清5-HT、NE表达水平,改善抑郁状态和神经功能。     

Anterior interosseous nerve lession and distal myoclonus revealing a parsonage turner syndrome associated with hashimoto thyroiditys

Parsonage-Turner Syndrome (PTS), also known as brachial neuritis or neuralgic amyotrophy, is a rare disorder affecting 2 to 3 individuals per 100,000 each year. Abrupt onset shoulder pain, followed by motor weakness, paresthesia and hypoesthesia, is usually reported, lasting several months with variable recovery. The etiology of the disease may be idiopathic or triggered by an underlying autoimmune disease in genetically susceptible individuals. Our report addresses a unique case of Parsonage-Turner Syndrome in a patient suffering from concurrent Hashimoto Thyroiditis. A previously healthy A 22 year-old female was referred to the Department of Neurology after complaints of sudden-onset motor weakness in her left upper limb. On physical examination, the patient could not make an “Ok sign” with her thumb and distal phalanx or form a complete fist, revealing weakness within the anterior interosseous branch of the median nerve. Further testing with electromyography demonstrated muscular atrophy within the arm''s anterior compartment, forearm, and triceps brachii of the posterior compartment. Additional imaging and physical examination were unremarkable, confirming our diagnosis of PTS. Furthermore, lab reports revealed elevated levels of anti-thyroglobulin and anti-thyroid peroxidase antibodies and our patient was concurrently diagnosed with Hashimoto''s thyroiditis.This case aims to highlight the rare co-occurrence of Hashimoto''s thyroiditis with Parsonage-Turner Syndrome in an otherwise healthy patient. A 2014 study published by Nugent et al. had also shed light on brachial neuritis in a patient suffering from autoimmune connective tissue disease, and through this case study, we hope to add to the growing literature regarding the correlation between PTS and autoimmune diseases. Symptoms of PTS can easily be misdiagnosed given its similarity to other peripheral neuropathies, and careful assessment and thorough understanding of the disease is required to successfully distinguish it from other neurological pathologies.     

Image quality dependence on in-plane positions and directions for MDCT images

Objective

The present study was performed to examine the dependence of image quality on in-plane position and direction in computed tomography (CT) imaging using the modulation transfer function (MTF), noise power spectrum (NPS) and analysis of signal-to-noise ratio (SNR). For detailed analysis of SNR, the low-contrast detectability was compared using simulated small low-contrast objects.

Materials and methods

Three models of multidetector-row CT (MDCT) were employed. The measurement positions for MTF were set to the isocentre and several peripheral areas, and NPS and SNR were calculated for the isocentre and 128 mm off-centre. To evaluate directional dependence, the one-dimensional physical properties were measured separately in the radial and azimuthal directions. Seven radiological technologists also performed a perceptual detection study at the different in-plane positions using computer-simulated low-contrast images.

Results

The results of MTF and SNR differed between the isocentre and the peripheral area. The MTF values also tended to decrease with distance from the isocentre, and the SNR values in the low frequency range for the peripheral area were superior to those for the isocentre. In the detection study, the low-contrast detectability in the peripheral area was 13-40% higher than the value in the isocentre.

Conclusion

The results of the present study indicated that clinical CT images have remarkable non-uniformity of image quality. Therefore, the detailed analysis performed in this study will provide useful information for the development of advanced image processing applications, such as computer-aided diagnosis (CAD) and de-noising of CT images.     

Validity of apparent diffusion coefficient (ADC) value in diagnosis and follow-up of multiple sclerosis patients in different clinical subtypes

Background

Multiple sclerosis (MS) is a chronic disease with a wide range of pathologic changes that modify the apparent diffusion coefficient (ADC) value.

脑梗死患者血清同型半胱氨酸检测的临床意义

目的：探讨脑梗死患者血清同型半胱氨酸（Hcy）水平的变化及临床意义。方法：应用比色法对44例脑梗死患者（脑梗死组）进行血清Hcy水平测定,并与40例健康正常人（对照组）作比较。结果：脑梗死组血清Hcy水平（21.42±3.19μmol/L）明显高于对照组（12.04±2.46μmol/L）。结论：脑梗死患者血清Hcy水平明显升高,可作为预测脑梗死发生、发展的敏感指标。     

强直性脊柱炎80例临床研究

1985年,我院内科对800例患腰背痛,其中部分为外院疑有强直性脊柱炎(AS)的病人,进行了临床及HLA-B_(27)检查。根据纽约诊断标准,确诊为AS病者80例,其发病年龄多在12～30岁之间,男女之比例为6.3∶1;72例AS病人之HLA-B_(27)阳性,5例病人有家族史,提示本病与遗传因素有关。部分病人做到了早期诊断。我们认为,对患腰背痛的病人进行HLA-B_(27)检查,可提高医生对AS发病之警觉。     

Humane metapneumovirus (HMPV) associated pulmonary infections in immunocompromised adults—Initial CT findings,disease course and comparison to respiratory-syncytial-virus (RSV) induced pulmonary infections

Aim

To describe computed tomography (CT)-imaging findings in human metapneumovirus (HMPV)-related pulmonary infection as well as their temporal course and to analyze resemblances/differences to pulmonary infection induced by the closely related respiratory-syncytial-virus (RSV) in immunocompromised patients.

Materials and methods

Chest-CT-scans of 10 HMPV PCR-positive patients experiencing pulmonary symptoms were evaluated retrospectively with respect to imaging findings and their distribution and results were then compared with data acquired in 13 patients with RSV pulmonary infection. Subsequently, we analyzed the course of chest-findings in HMPV patients.

Results

In HMPV, 8/10 patients showed asymmetric pulmonary findings, whereas 13/13 patients with RSV-pneumonia presented more symmetrical bilateral pulmonary infiltrates. Image analysis yielded in HMPV patients following results: ground-glass-opacity (GGO) (n = 6), parenchymal airspace consolidations (n = 5), ill-defined nodular-like centrilobular opacities (n = 9), bronchial wall thickening (n = 8). In comparison, results in RSV patients were: GGO (n = 10), parenchymal airspace consolidations (n = 9), ill-defined nodular-like centrilobular opacities (n = 10), bronchial wall thickening (n = 4). In the course of the disease, signs of acute HMPV interstitial pneumonia regressed transforming temporarily in part into findings compatible with bronchitis/bronchiolitis.

Conclusions

Early chest-CT findings in patients with HMPV-related pulmonary symptoms are compatible with asymmetric acute interstitial pneumonia accompanied by signs of bronchitis; the former transforming with time into bronchitis and bronchiolitis before they resolve. On the contrary, RSV-induced pulmonary infection exhibits mainly symmetric acute interstitial pneumonia.     

Comparison of double inversion recovery magnetic resonance imaging (DIR-MRI) and dynamic contrast enhanced magnetic resonance imaging (DCE-MRI) in detection of prostate cancer: A pilot study

IntroductionDCE-MRI is established for detecting prostate cancer (PCa). However, it requires a gadolinium contrast agent, with potential risks for patients. The application of DIR-MRI is simple and may allow cancer detection without the use of an intravenous contrast agent by differentially nullifying signal from normal and abnormal prostate tissue, creating contrast between the cancer and background normal prostate. In this pilot study we gathered data from DIR-MRI and DCE-MRI of the prostate for an equivalence trial. We also looked at how the DIR-MRI appearance varies with the aggressiveness of PCa.MethodDIR-MRI and DCE-MRI were acquired. The images were assessed by an experienced Consultant Radiologist and a novice reporter (Radiographer). The potential PCa lesions were quantified using a lesion to normal ratio (LNR). Radiological pathological correlation was made to identify the MRI lesions that represented significant PCa. A Wilcoxon sign rank was used to compare DCE-LNR and DIR-LNR for PCa containing lesions. Pearson's correlation was used to look at the relationship between DIR-LNR and PCa grade group (aggressiveness).ResultsDCE-LNR and DIR-LNR were found to be significantly different (Z = −5.910, p < 0.001). However, a significant correlation was found between PCa grade group and DIR-LNR.ConclusionDIR and DCE sequences are not equivalent and significant cancer is more conspicuous on the DCE sequence. However, DIR-LNR does correlate with PCa aggressiveness.Implications for practiceWith the correlation of PCa grade group with DIR-LNR this may be a useful sequence in evaluation of the prostate; stratifying the risk of there being clinically significant PCa before biopsy is performed. Furthermore, given that DIR-LNR appears to predict PCa aggressiveness DIR might be used as part of a multiparametric MRI protocol designed to avoid biopsy.     

CT and MR features of nasopharyngeal carcinoma in children and young adults

AIM: To clarify CT and MR features of nasopharyngeal carcinoma (NPC) in children and young adults. METHOD: CT and MR findings of 13 patients (30 years old or younger) with a histopathologic diagnosis of NPC were reviewed. RESULTS: Skull base invasion (12/13), lymphadenopathy (10/13), and infiltrative growth (8/8) were common findings. The signal intensity of tumours was slightly higher than that of muscles in six cases and isointense to that of muscles in two cases on T1-weighted images; it was higher than that of muscle and lower than that of cerebellar grey matter on T2-weighted images in all cases. Internal signals were homogeneous in both pre- and post-Gd-enhanced MR images in all cases. CONCLUSIONS: Despite its rarity in this age group, NPC should be included in a differential diagnosis when CT and MR imaging reveal these features.