恶性孤立性纤维性肿瘤2例临床病理分析

目的:探讨恶性孤立性纤维性肿瘤(malignant solitary fibrous tumor,MSFT)的临床病理特征、诊断、鉴别诊断、分子遗传学、治疗及预后.方法:对2例MSFT进行光镜、免疫组织化学研究,并复习相关文献.结果:男性2例,年龄分别为66岁及48岁.发生部位:骶前1例,临床表现为进行性二便障碍3年;后上纵隔1例,临床表现为活动后心慌半个月.肿瘤大小分别为10cm×9 cm×6 cm及12 cm×10 cm×9 cm.镜检:细胞稀少区和细胞丰富区交替分布,两者之间有粗的玻璃样变胶原纤维分隔.密集区肿瘤细胞丰富,呈束状、漩涡状排列,可见血管外皮瘤样结构;瘤细胞呈梭形、短梭形,核染色质粗,异型性明显,有肿瘤性坏死、较多量核分裂( ＞4/10 HPF),局部出血.免疫表型:肿瘤细胞CD34,Bcl-2,CD99及Vimentin弥漫阳性;P53部分阳性,上皮细胞膜抗原局灶阳性;ki-67增殖指数20％ ～ 30％;S100,Desmin,CK及胶质纤维酸性蛋白阴性.结论:MSFT是一种少见的间叶肿瘤,确诊主要依靠形态学及免疫组织化学,需与血管外皮细胞瘤、恶性纤维组织细胞瘤、纤维肉瘤、滑膜肉瘤、恶性间皮瘤、恶性外周神经鞘膜瘤和脑膜瘤等相鉴别.MSFT的预后不良,易复发和转移,根治性切除是主要治疗手段,术后应长期随访.     

Mechanistic modeling of the effects of myoferlin on tumor cell invasion

Myoferlin (MYOF) is a member of the evolutionarily conserved ferlin family of proteins, noted for their role in a variety of membrane processes, including endocytosis, repair, and vesicular transport. Notably, ferlins are implicated in Caenorhabditis elegans sperm motility (Fer-1), mammalian skeletal muscle development and repair (MYOF and dysferlin), and presynaptic transmission in the auditory system (otoferlin). In this paper, we demonstrate that MYOF plays a previously unrecognized role in cancer cell invasion, using a combination of mathematical modeling and in vitro experiments. Using a real-time impedance-based invasion assay (xCELLigence), we have shown that lentiviral-based knockdown of MYOF significantly reduced invasion of MDA-MB-231 breast cancer cells in Matrigel bioassays. Based on these experimental data, we developed a partial differential equation model of MYOF effects on cancer cell invasion, which we used to generate mechanistic hypotheses. The mathematical model predictions revealed that matrix metalloproteinases (MMPs) may play a key role in modulating this invasive property, which was supported by experimental data using quantitative RT-PCR screens. These results suggest that MYOF may be a promising target for biomarkers or drug target for metastatic cancer diagnosis and therapy, perhaps mediated through MMPs.     

食管癌低表达cDNA片段C6-2A的克隆及表达分析

目的　克隆人食管癌发生相关的基因。方法　用ｍ Ｒ Ｎ Ａ 差异显示技术分离、克隆食管癌组织中不表达或低表达的ｃ Ｄ Ｎ Ａ 片段,再通过 Ｎｏｒｔｈｅｒｎ ｂｌｏｔ 、ｄｏｔ ｂｌｏｔ 和 Ｒ Ｔ Ｐ Ｃ Ｒ 证实。结果　获得２８０ｂｐ 的ｃ Ｄ Ｎ Ａ 片段,命名为 Ｃ６２ Ａ。与 Ｇｅｎ Ｂａｎｋ 基因数据库比较,未发现 Ｃ６２ Ａ 与任何已知基因有同源性。查询 Ｅ Ｓ Ｔ 数据库,发现 Ｃ６２ Ａ 与ｎｅ２７ｂ０３ ,ｓ１ Ｎ Ｃ Ｉ Ｃ Ｇ Ａ Ｐ Ｃ０３ 人ｃ Ｄ Ｎ Ａ 克隆８９８５４１ 及人卵巢肿瘤ｃ Ｄ Ｎ Ａ 克隆７５５１９６ 等高度同源。 Ｎｏｒｔｈｅｒｎ ｂｌｏｔ 结果显示６／６ 例食管癌组织表达丧失或低表达,ｄｏｔ ｂｌｏｔ 分析表明７／８例食管癌组织低表达, Ｒ Ｔ Ｐ Ｃ Ｒ 显示食管癌细胞系 Ｅ Ｃ１０９ 、 Ｅ Ｃ８７１２ 、 Ｅ Ｃ９７０６ 和肺腺癌细胞系 Ｇ Ｌ Ｃ８２ 极弱表达,１７／２０ 例食管癌组织表达丧失或低表达,胎儿食管、皮肤、大脑、胎盘较高表达,胎儿胃、肝较弱表达,胎儿心、小肠、肾不表达。结论　在食管癌细胞系和食管癌组织高频率的不表达或低表达提示, Ｃ６２ Ａ 很可能与食管癌的发生、发展有关。     

CK19、CK20在甲状腺乳头状癌诊断中的应用价值

目的：探讨甲状腺癌中CK19、CK20蛋白的表达,提高甲状腺的诊断与鉴别诊断水平。方法：应用免疫组化染色对70例甲状腺癌（15例经典型乳头状癌、34例滤泡型乳头状癌、3例Warthin乳头状癌、2例透明细胞型乳头状癌、例柱状细胞型乳头癌、15例滤泡性癌）,10例甲状腺腺瘤、10例结节性甲状腺肿和5例标本甲状腺炎中CK19、CK20的表达进行观察。结果:CK19在甲状腺疾病中的表达：55例乳头状癌中,53例为中、强阳性,2例为弱阳性;15例滤泡性癌中,13例为阴性、弱阳性,2例为中、强阳性,两者之间差异存在显著性（P＜0．05）。各癌旁滤泡、10例滤泡性腺瘤、10例结节性甲状腺肿的滤泡、5例桥本甲状腺炎也主要为阴性、弱阳性,个别为中等阳性。对CK20的表达,各型甲状腺乳头状癌、滤泡性癌、癌旁滤泡及滤泡状癌和乳头状增生、多灶性分布的甲状腺泡型乳头状癌和各种滤泡性病变有帮助,可提高甲状腺良恶性病变诊断的准确率及鉴别诊断水平。CK20对鉴别诊断的帮助不大。     

基因芯片筛选Bardct-Bicdl综合征患者外周血差异表达基因

目的 采用基因表达谱芯片研究Bardet-Biedl综合征(Bardet-Biedl syndrome,BBS)患者外周血单个核细胞差异基因表达谱.方法 抽取3例BBS先证者及4名年龄、性别匹配的健康对照者静脉血,分离外周血单个核细胞,用Trizol一步法提取总RNA并进行扩增和标记,然后与Affymetrix U133 Plus 2.0芯片进行杂交,扫描芯片并将图像信号转化为数字信号,GCOS1.4软件读取、处理数据.将患者与正常对照基因表达谱进行比较,最后以表达差异≥2倍(P＜0.05)为标准来确定差异表达基因.结果 BBS患者与正常对照相比,有30个基因表达有显著差异,包括15个上调基因及15个下调基因.通过GO分析,有12个基因与信号传导及细胞周期有关.结论 筛选到的差异基因与纤毛的功能或结构相关性及在BBS发生及发展中的作用有待研究.     

Changing perceptions of self as a communicator in Parkinson's disease: a longitudinal follow-up study

Purpose.?Dysarthria in neurological conditions can impact on people's view of themselves as communicators. How views might evolve and how they relate to changes in other variables remains unclear. We investigated patterns of change in self-perception as a communicator in people with Parkinson's disease (PD) and compared outcomes to changes in other clinical measures.

Methods.?Thirty-one people with initially early-stage PD completed a 22-item self-administered semantic differential questionnaire aimed at characterising their view of themselves as communicators before they had PD and at two assessment points 3 years apart. Patterns of change across time were analysed, and compared to intelligibility, motor, mood and cognitive measures.

Results.?Negative changes in perceptions of self as a communicator occurred, in particular in reactions around competence, adequacy, control and ease in communication. There was variability between individuals and between items. No significant relationship was established between changes on self-perception scores and other measures.

Conclusions.?Individuals' views of themselves as communicators evolve over time in progressive neurological conditions. Changes do not relate straightforwardly to other clinical measures. Major impact can occur despite good intelligibility levels. Exploring self-perceptions, individual reactions and coping strategies are argued to be a vital part of assessment and management.     

磁共振体素内不相干运动扩散加权成像在诊断脊柱结核中的价值

目的 探讨磁共振体素内不相干运动(intravoxel incoherent motion,IVIM)扩散加权成像(diffusion-weighted imaging,DWI)在脊柱结核患者中灌注分数(perfusion fraction,f)、单纯扩散系数(pure diffusion coefficient,D)、假性扩散系数(pseudodiffusion coefficient,D ^*)的参数值范围及其诊断价值。方法 选择2018年1—9月在新疆医科大学第一附属医院经临床活检、手术组织标本病理检查证实的18例脊柱结核患者作为结核组,男13例,女5例;年龄20~79岁,平均(40.39±14.84)岁;结核病变累及椎体46个,其中5例胸椎结核病变共累及23个椎体,13例腰椎结核病变共累及23个椎体。同期在就诊患者或人群中选取与结核组患者性别构成比相同、平均年龄相差不超过5岁、与结核组受累椎体节段一致且椎体正常的18名正常志愿者作为对照组。36例(名)受检者均行Signa 3.0 T MR常规和IVIM-DWI序列扫描(包括自旋回波矢状面T₁WI、T₂WI、压脂序列扫描,冠状面轴面T₂WI序列),采用双指数模型后处理软件,得到脊柱结核组(病变椎体、跳跃2椎体、椎间盘)和与之相对应的正常对照组(正常椎体、椎间盘)的IVIM定量,应用IVIM模型计算两组f、D、D ^*等参数指标并进行比较,采用SPSS 16.0软件进行统计学分析,f、D、D ^*均为非正态分布资料,采用秩和检验,以P<0.05为差异有统计学意义。采用受试者工作曲线(ROC曲线)分析结核病变椎体f、D、D ^*参数值的曲线下最大面积、敏感度、特异度、最佳诊断阈值。结果 结核组病变椎体f值[12.91(8.15,22.73)%]低于对照组正常椎体[37.16(30.45,47.07)%](Z=6.841,P<0.001);D值[0.88(0.73,1.40)×10 ^-3mm ²/s]、D ^*值[39.99(20.15,66.35)×10 ^-3mm ²/s]明显高于正常椎体[分别为0.07(-0.12,0.28)×10 ^-3mm ²/s,20.37(12.26,29.97)×10 ^-3mm ²/s](Z值分别为7.598、3.842,P值均<0.001)。结核组病变椎体与跳跃2个椎体的正常椎体f值比较,前者低于后者 [40.51(33.75,46.28)%](Z=3.421,P=0.001);D值前者明显高于后者 [0.05(-0.20,0.15)×10 ^-3mm ²/s(Z=3.743,P<0.001)。结核组病变椎间盘f值[6.72(4.36,11.53)%]、D值[2.06(1.92,2.26)×10 ^-3mm ²/s]均高于对照组正常椎间盘[分别为5.72(3.00,7.85)%、1.88(1.79,1.85)×10 ^-3mm ²/s](Z=2.276,P=0.023;Z=3.919,P<0.001)。ROC曲线获得D值的曲线下最大面积为0.960,敏感度为95.74%,特异度为87.56%,最佳诊断阈值为0.63×10 ^-3mm ²/s。结论 IVIM-DWI可定量评估病变水分子扩散和微血管灌注特性,通过IVIM中f、D、D ^*各定量参数值范围分析,D值对脊柱结核诊断敏感度、特异度最高,为临床诊断脊柱结核可提供有效的参考。     

CT引导下经皮肺穿刺活检诊断疑难肺结核病9例临床病理分析

目的探讨CT引导下经皮肺穿刺活检(PCNB)在疑难肺结核诊治中的临床应用价值。方法分析了2009年1月至2011年9月在我科行PCNB诊断的9例肺结核患者的影像学及病理结果。结果 9例肺穿刺活检物送病理组织学检查确诊为肺结核。结论对影像学和其他检查方法难于确诊的肺结核病例,PCNB是一种安全有效的确诊手段。