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161.
Hiroko Fujita Jianguo Meng Miyako Kawamura Noriko Tozuka Fumiyo Ishii Naoko Tanaka 《American journal of medical genetics. Part A》1992,44(4):434-436
We report on a 6-year-old boy with de novo 46, XY, del(3)(q12q23) and bilateral blepharo-phimosis, ptosis, epicanthus inversus, in addition to multiple other anomalies. Since 4 previously reported cases of interstitial deletion of 3q involving 3q23 band are clinically similar, we propose this blepharophimosis sequence due to 3q23 deletion as a further “contiguous gene syndrome”. 相似文献
162.
Luna VM Wang M Ono F Gleason MR Dallman JE Mandel G Brehm P 《Journal of neurophysiology》2004,92(4):2003-2009
On initial formation of neuromuscular junctions, slow synaptic signals interact through an electrically coupled network of muscle cells. After the developmental onset of muscle excitability and the transition to fast synaptic responses, electrical coupling diminishes. No studies have revealed the functional importance of the electrical coupling or its precisely timed loss during development. In the mutant zebrafish shocked (sho) electrical coupling between fast muscle cells persists beyond the time that it would normally disappear in wild-type fish. Recordings from sho indicate that muscle depolarization in response to motor neuron stimulation remains slow due to the low-pass filter characteristics of the coupled network of muscle cells. Our findings suggest that the resultant prolonged muscle depolarizations contribute to the premature termination of swimming in sho and the delayed acquisition of the normally rapid touch-triggered movements. Thus the benefits of gap junctions during early synapse development likely become a liability if not inactivated by the time that muscle would normally achieve fast autonomous function. 相似文献
163.
淋巴结血管内T细胞淋巴瘤1例报道及文献复习 总被引:1,自引:0,他引:1
目的 探讨血管内淋巴瘤 (IVL)的临床病理特征。方法 对 1例腹股沟淋巴结IVL临床、病理组织学及免疫表型进行观察分析并复习文献。结果 男性 31岁 ,不明原因高热伴消瘦 5 0天 ,右腹股沟直径 1cm淋巴结 1枚 ,B超示肝脏轻度增大 ,血LDH明显升高伴ESR及转氨酶轻度升高 ,外周血WBC 3 3× 10 7/L ,骨髓像、多种病原及各肿瘤相关抗原检测均无异常。病理活检 :腹股沟淋巴结大部分破坏 ,代之以大量扩张的中小血管 ,腔内充满大量异型淋巴样细胞 ,局部伴管壁、管周浸润并累及结外脂肪组织。瘤细胞免疫表型CD4 5、CD4 5RO、CD3阳性 ,CK、CD6 8、CD79α、CD2 0均阴性 ,血管壁及内皮细胞CD31、CD34阳性。行CHOP化疗后症状缓解 ,现仍在随访中。结论 IVL是一罕见的非霍奇金淋巴瘤 ,好发于中枢神经系统及皮肤 ,其他部位少见 ,绝大数为B细胞型 ,T型罕见 ,以浅表淋巴结活检确诊者尚无报道。临床表现有一定提示性 ,确诊靠组织病理学检查 ,部分病例对化疗敏感 ,但多数病例预后差 相似文献
164.
目的:研究表达载体介导的反义RNA对人巨噬细胞移动抑制因子(MIF)表达的抑制作用。 方法:用亚克隆技术构建可转录MIF反义RNA的真核表达载体pcDNA3-antiMIF。用lipofectamine2000分别将pcDNA3、pcDNA3-antiMIF转染可表达MIF的HEK293(293-MIF)细胞,用Real-time定量PCR鉴定MIF mRNA表达水平。将pcDNA3-antiMIF转化人脐静脉血管内皮细胞(HUVECs),建立可表达MIF反义RNA的HUVECs(HUVECs-antiMIF)细胞。将MIF的真核表达载体pSecTag-MIF转染HUVECs-antiMIF,用Real-time定量PCR鉴定MIF mRNA的表达水平。 结果:正确构建了MIF反义RNA的表达载体pcDNA3-antiMIF。MIF 反义RNA对293-MIF细胞中MIF表达的抑制水平达32%(P<0.05)。建立稳定表达MIF反义RNA的HUVECs-antiMIF细胞株。HUVECs-antiMIF中MIF的表达受到抑制,表达水平降低40%(P<0.05)。 结论:表达载体介导的反义RNA能有效地抑制MIF的表达,建立了稳定表达MIF反义RNA的HUVECs。 相似文献
165.
Saheki T Kobayashi K Iijima M Horiuchi M Begum L Jalil MA Li MX Lu YB Ushikai M Tabata A Moriyama M Hsiao KJ Yang Y 《Molecular genetics and metabolism》2004,81(Z1):S20-S26
Citrin is a mitochondrial aspartate glutamate carrier primarily expressed in the liver, heart, and kidney. We found that adult-onset type II citrullinemia is caused by mutations in the SLC25A13 gene that encodes for citrin. In this report, we describe the frequency of SLC25A13 mutations, the roles of citrin as a member of the urea cycle and as a member of the malate-aspartate shuttle, the relationship between its functions and symptoms of citrin deficiency, and therapeutic issues. 相似文献
166.
转染survivin反义mRNA对Jurkat淋巴瘤细胞生长和化疗敏感性的影响 总被引:2,自引:0,他引:2
目的 研究转染survivin反义mRNA对Jurkat淋巴瘤细胞生长的影响以及转染后淋巴瘤细胞对化疗药物的敏感性。方法 构建survivin反义mRNA真核表达质粒pcDNA3.1-反义(As)survivin;利用脂质体转染法将其转入高表达survivin mRNA T淋巴母细胞淋巴瘤Jurkat细胞系,用逆转录聚合酶链反应(RT—PCR)、免疫组织化学SP法、Western印迹法检测细胞中survivin表达;用细胞计数、流式细胞术(FCM)检测其细胞生长曲线、细胞凋亡指数,并进行光镜、电镜形态学观察;并对转染pcDNA3.1-Assurvivin前后Jurkat细胞分别加入4-羟基-环磷酰胺(CTX)、甲氨蝶呤(MTX)72h后,常规MTT检测细胞存活率。结果 RT—PCR检测转染pcDNA3.1-Assurvivin后48h、5和6周Jurkat细胞survivin mRNA表达,发现survivin mRNA表达皆低于对照组;转染后survivin蛋白表达也明显降低。转染pcDNA3.1-Assurvivin后Jurkat细胞生长倍增时间(52h)明显延长;用FCM检测细胞凋亡发现,转染pcDNA3.1-Assurvivin后Jurkat细胞凋亡指数[20.2%(48h)]明显高于对照组(转染空质粒和未转染组,2.1%和1.3%);5和6周为6.2%和6.8%,明显高于未转染细胞(1.3%和1.0%)。光镜、电镜观察见转染细胞出现较多凋亡细胞及一些变性肿胀细胞;MTT检测结果显示Jurkat细胞转染前后,经化疗药物4-羟基-环磷酰胺和甲氨蝶呤作用,转染细胞的抑制率明显大于未转染组,差异有统计学意义(P〈0.05)。结论 survivin基因对Jurkat细胞系的生长起着重要的作用,抑制survivin基因表达在T淋巴母细胞淋巴瘤治疗中可能有重要的意义,该基因似可能作为治疗的靶点。 相似文献
167.
Prevalence of Antibodies to Hepatitis E Virus in Veterinarians Working with Swine and in Normal Blood Donors in the United States and Other Countries 总被引:27,自引:0,他引:27
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X. J. Meng B. Wiseman F. Elvinger D. K. Guenette T. E. Toth R. E. Engle S. U. Emerson R. H. Purcell 《Journal of clinical microbiology》2002,40(1):117-122
Hepatitis E virus (HEV) is endemic in many developing and some industrialized countries. It has been hypothesized that animals may be the source of infection. The recent identification of swine HEV in U.S. pigs and the demonstration of its ability to infect across species have lent credence to this hypothesis. To assess the potential risk of zoonotic HEV infection, we tested a total of 468 veterinarians working with swine (including 389 U.S. swine veterinarians) and 400 normal U.S. blood donors for immunoglobulin G anti-HEV. Recombinant capsid antigens from a U.S. strain of swine HEV and from a human HEV strain (Sar-55) were each used in an enzyme-linked immunosorbent assay. The anti-HEV prevalence assayed with the swine HEV antigen showed 97% concordance with that obtained with the human HEV antigen (kappa = 92%). Among the 295 swine veterinarians tested from the eight U.S. states (Minnesota, Indiana, Nebraska, Iowa, Illinois, Missouri, North Carolina, and Alabama) from which normal blood donor samples were available, 26% were positive with Sar-55 antigen and 23% were positive with swine HEV antigen. In contrast, 18% of the blood donors from the same eight U.S. states were positive with Sar-55 antigen and 17% were positive with swine HEV antigen. Swine veterinarians in the eight states were 1.51 times more likely when tested with swine HEV antigen (95% confidence interval, 1.03 to 2.20) and 1.46 times more likely when tested with Sar-55 antigen (95% confidence interval, 0.99 to 2.17) to be anti-HEV positive than normal blood donors. We did not find a difference in anti-HEV prevalence between veterinarians who reported having had a needle stick or cut and those who had not or between those who spent more time (> or = 80% of the time) and those who spent less time (< or = 20% of the time) working with pigs. Similarly, we did not find a difference in anti-HEV prevalence according to four job categories (academic, practicing, student, and industry veterinarians). There was a difference in anti-HEV prevalence in both swine veterinarians and blood donors among the eight selected states, with subjects from Minnesota six times more likely to be anti-HEV positive than those from Alabama. Age was not a factor in the observed differences from state to state. Anti-HEV prevalence in swine veterinarians and normal blood donors was age specific and paralleled increasing age. The results suggest that swine veterinarians may be at somewhat higher risk of HEV infection than are normal blood donors. 相似文献
168.
急性髓系白血病中CD64表达的敏感性及特异性研究 总被引:1,自引:0,他引:1
研究急性髓系白血病(AML)免疫分型中CD64的敏感性和特异性.用系列抗原对132例AML患者的骨髓细胞进行直接标记,并用流式细胞术进行分析.结果表明:在AML中,CD64对急性粒-单细胞白血病(M4)和急性单核细胞白血病(M5)中敏感性最高(分别为96.4%和100%),在其他AML(M0、M1、M2、M3,M6、M7)中表达均较低.CD64对M4和M5中的特异性为56.5%.因此,CD64有助于AML中M4、M5的鉴别诊断. 相似文献
169.
浅谈中国传统文化与当代心理治疗 总被引:5,自引:0,他引:5
当代中国的心理治疗有待“本土化”。传统文化中的中华民族心理特征具有务实 ,重视人与自然、社会和谐关系的特点 ,不彰显个性而有所节制。心理治疗在当代应吸取传统文化里的人生哲学、超越而丰富的精神世界及中医养生术所蕴含的有益元素 相似文献
170.
Chen P Guo M Wygle D Edwards PA Falck JR Roman RJ Scicli AG 《The American journal of pathology》2005,166(2):615-624
Cytochrome P450 enzymes of the 4A family (CYP4A) convert arachidonic acid to 20-hydroxyeicosatetraenoic acid (20-HETE) in blood vessels of several vascular beds. The present study examined the effects of inhibiting the formation of 20-HETE with N-hydroxy-N'-(4-butyl-2-methylphenol) formamidine (HET0016) on the mitogenic response of vascular endothelial growth factor (VEGF) in human umbilical vein endothelial cells (HUVECs) in vitro, and on growth factor-induced angiogenesis in the cornea of rats in vivo. HET0016 (10 micromol/L and 20 microg, respectively) abolished the mitogenic response to VEGF in HUVECs and the angiogenic response to VEGF, basic fibroblast growth factor, and epidermal growth factor in vivo by 80 to 90% (P < 0.001). Dibromododecenyl methylsulfonimide (DDMS), a structurally and mechanistically different inhibitor of 20-HETE synthesis, also abolished angiogenic responses when tested with VEGF. Additionally, administration of the stable 20-HETE agonist, 20-hydroxyeicosa-6(Z) 15(Z)-dienoic acid (WIT003) induced mitogenesis in HUVECs and angiogenesis in the rat cornea in vivo. We studied the ability of HET0016 to alter the angiogenic response in the rat cornea to human glioblastoma cancer cells (U251). When administered locally into the cornea, HET0016 (20 microg) reduced the angiogenic response to U251 cancer cells by 70%. These results suggest that a product of CYP4A product, possibly 20-HETE, plays a critical role in the regulation of angiogenesis and may provide a useful target for reduction of pathological angiogenesis. 相似文献