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田蓉 《细胞与分子免疫学杂志》2008,24(2):176-176
1 临床资料患者, 女性, 11岁.右膝斑块7年就诊.7年前无诱因患者右膝部出现豆粒大小红色丘疹, 圆形, 边界清楚, 表面无鳞屑, 无水疱、 大疱, 无出血、渗出、溃破, 自觉微痒, 当时未介意.此后皮损渐增至鸡蛋大小, 偶感瘙痒, 无其他任何不适, 按"湿疹"在多家医院诊治, 皮损从未消退. 相似文献
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有限自制力的理论假设及相关研究 总被引:1,自引:1,他引:0
自我控制与理性和谐的生活秩序息息相关。近十年来关于自我控制的研究表明.自制力类似于肌肉的力量,是有限而易消耗的,休息后能自动恢复;为了克服有限的资源与无限的需要的矛盾.个体倾向于有选择地使用宝贵的自制力资源;通过预期、启动等途径能在一定程度上降低自制力消耗的效应.通过锻炼能够有效地提升自制力的强度。未来的研究最重要的是找到直接测量自制力资源的途径.确立有限自制力理论的说服力。 相似文献
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目的 通过研究骨科创伤患者引发的血栓栓塞及肺动脉栓塞,以探讨对其发病机制、临床特征、高危因素及病死率的早期治疗及预防.方法 统计自2000年2月~2006年1月的骨科创伤患者,合并血栓栓塞及肺动脉栓塞共18例(960人).进行临床资料回顾性研究分析.结果 血栓栓塞占骨科创伤病人并发症的2.76%.肺动脉栓塞占血栓栓塞的10.02%(3人).且全部死亡.其中年龄大于50岁,合并腰椎、骨盆或下肢外伤的病例占所有血栓栓塞病例的56.31%(11人).结论 年龄大于50岁,肥胖病合并腰椎、骨盆或下肢外伤,合并心血管病患,长期制动的患者,引发血栓栓塞发病率明显增高.病人可因下床,排便,咳嗽等而突然导致肺动脉栓塞死亡.诊治和预防血栓栓塞应引起骨科医生的高度重视. 相似文献
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乙肝病毒血清标记物与血清HBV-DNA的关系 总被引:1,自引:0,他引:1
目的:探讨不同乙肝感染模式的患者与HBV-DNA定量结果进行对比分析.方法:采用ELISA方法检测乙肝病毒血清标记物, 荧光定量PCR (FQ-PCR) 检测HBV-DNA, 比较二者之间的关系.结果:HBsAg、 HBeAg、 HBcAb阳性组和HBsAg、 HBeAg阳性组 HBV-DNA检出率较高, 分别为96.61%和100%.HBsAg、 HBeAg、 HBcAb阳性组HBV-DNA含量平均水平为3.86×108, HBsAg、 HBeAg阳性组HBV-DNA含量平均水平为1.73×108;HBsAg、 HBeAb、 HBcAb阳性组和HBsAg、 HBcAb阳性组检出率也较高, 达45% 以上, HBV-DNA含量平均水平分别为1.30×107和1.31×106.结论:FQ-PCR检测HBVDNA能准确地反映体内的HBV真实感染和复制情况, 在乙肝的诊断和治疗中, 不能单凭两对半的检测, 同时应做HBV-DNA的定量测定. 相似文献
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目的 设计一种新型的适合家庭使用的便携式监护系统.方法 系统以数字信号处理器(TMS320F2812)为核心控制芯片,主要实现对系统中其它模块的控制功能,完成MD采样及LCD液晶显示;采用蓝牙通汛模块,实现了系统与PC机之间数据的实时快速传输.结果 该监护仪能正确完成人体心电、呼吸频率、脉搏以及体温等多项人体生命参数的监测,且性能稳定.结论 充分利用DSP与蓝牙模块的优势,设计体积小、功耗低、使用简单方便、面向家庭的新型多功能监护仪,具有广阔的应用与市场前景.
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Objective To design a new portable vital signs monitor for family use. Methods TMS320F2812, a kind of digital signal processor, was applied as the main processor to control the functional mod-ules including A/D convertor, LCD display. Bluetooth communication module was introduced to achieve real-time fast transfer of data between the system and the PC. Results Not only can the system monitor electrocardiogram (ECG), breath rate, pulse rate, body temperature and other vital signs accurately, but also it runs stably. Conclusion The features of DSP and Bluetooth were well combined in the design of the family-oriented, easy to use, multi-functional monitor with small size, low power consumption and convenience. A broad application and market prospects can be predicted. 相似文献
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We have developed methylation-sensitive, single-strand conformation analysis (MS-SSCA) as a method of screening for methylation changes. Bisulfite modification converts cytosines to thymines, but methylated cytosines remain unchanged. This modification creates sequence differences between methylated and unmethylated samples, which can be resolved by SSCA. SSCA is 70-95% efficient at detecting single base changes in a fragment. As bisulfite modification of methylated DNA would typically involve several base changes in a fragment, the efficiency of detecting methylation using MS-SSCA could approach 100%. We applied this method to analyze the BRCA1 promoter CpG island in breast cancer samples. About 20% of sporadic breast cancers are hypermethylated at the BRCA1 promoter CpG island. MS-SSCA rapidly detected those tumors that had previously been shown to be methylated by Southern blotting. The variant bands detected by SSCA were analyzed by sequencing and shown to be methylated. MS-SSCA is a simple method for screening large numbers of samples for methylation and can accelerate genomic sequencing, as all bands can be isolated and sequenced directly. 相似文献
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Novel BRCA1 and BRCA2 Tumor Test as Basis for Treatment Decisions and Referral for Genetic Counselling of Patients with Ovarian Carcinomas 下载免费PDF全文
Robbert D.A. Weren Arjen R. Mensenkamp Michiel Simons Astrid Eijkelenboom Aisha S. Sie Hicham Ouchene Monique van Asseldonk Encarna B. Gomez‐Garcia Marinus J. Blok Joanne A. de Hullu Marcel R. Nelen Alexander Hoischen Johan Bulten Bastiaan B.J. Tops Nicoline Hoogerbrugge Marjolijn J.L. Ligtenberg 《Human mutation》2017,38(2):226-235
With the recent introduction of Poly(ADP‐ribose) polymerase inhibitors, a promising novel therapy has become available for ovarian carcinoma (OC) patients with inactivating BRCA1 or BRCA2 mutations in their tumor. To select patients who may benefit from these treatments, assessment of the mutation status of BRCA1 and BRCA2 in the tumor is required. For reliable evaluation of germline and somatic mutations in these genes in DNA derived from formalin‐fixed, paraffin‐embedded (FFPE) tissue, we have developed a single‐molecule molecular inversion probe (smMIP)‐based targeted next‐generation sequencing (NGS) approach. Our smMIP‐based NGS approach provides analysis of both strands of the open reading frame of BRCA1 and BRCA2, enabling the discrimination between real variants and formalin‐induced artefacts. The single molecule tag enables compilation of unique reads leading to a high analytical sensitivity and enabling assessment of the reliability of mutation‐negative results. Multiplex ligation‐dependent probe amplification (MLPA) and Methylation‐specific multiplex ligation‐dependent probe amplification (MS‐MLPA) were used to detect exon deletions of BRCA1 and methylation of the BRCA1 promoter, respectively. Here, we show that this combined approach allows the rapid and reliable detection of both germline and somatic aberrations affecting BRCA1 and BRCA2 in DNA derived from FFPE OCs, enabling improved hereditary cancer risk assessment and clinical treatment of ovarian cancer patients. 相似文献
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DNA methylation patterns in hereditary human cancers mimic sporadic tumorigenesis. 总被引:16,自引:0,他引:16
M Esteller M F Fraga M Guo J Garcia-Foncillas I Hedenfalk A K Godwin J Trojan C Vaurs-Barrière Y J Bignon S Ramus J Benitez T Caldes Y Akiyama Y Yuasa V Launonen M J Canal R Rodriguez G Capella M A Peinado A Borg L A Aaltonen B A Ponder S B Baylin J G Herman 《Human molecular genetics》2001,10(26):3001-3007
Cancer cells have aberrant patterns of DNA methylation including hypermethylation of gene promoter CpG islands and global demethylation of the genome. Genes that cause familial cancer, as well as other genes, can be silenced by promoter hypermethylation in sporadic tumors, but the methylation of these genes in tumors from kindreds with inherited cancer syndromes has not been well characterized. Here, we examine CpG island methylation of 10 genes (hMLH1, BRCA1, APC, LKB1, CDH1, p16(INK4a), p14(ARF), MGMT, GSTP1 and RARbeta2) and 5-methylcytosine DNA content, in inherited (n = 342) and non-inherited (n = 215) breast and colorectal cancers. Our results show that singly retained alleles of germline mutated genes are never hypermethylated in inherited tumors. However, this epigenetic change is a frequent second "hit", associated with the wild-type copy of these genes in inherited tumors where both alleles are retained. Global hypomethylation was similar between sporadic and hereditary cases, but distinct differences existed in patterns of methylation at non-familial genes. This study demonstrates that hereditary cancers "mimic" the DNA methylation patterns present in the sporadic tumors. 相似文献
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The usefulness of antibodies to the BRCA1 protein in detecting the mutated BRCA1 gene. An immunohistochemical study 下载免费PDF全文
Pérez-Vallés A Martorell-Cebollada M Nogueira-Vázquez E García-García JA Fuster-Diana E 《Journal of clinical pathology》2001,54(6):476-480
AIM:To assess the value of immunohistochemistry in discriminating between BRCA1 associated and non-BRCA1 associated breast tumours. METHODS:Four commercially available anti-BRCA1 antibodies were used on 45 paraffin wax embedded tumoral samples from patients with (seven of 45) and without (38 of 45) BRCA1 germline mutations. In all patients, the BRCA1 gene had been studied previously by means of the protein truncation test (PTT), conformational sensitive gel electrophoresis (CSGE), and direct sequencing of genomic DNA. Immunohistochemistry was carried out using the standard avidin-biotin immunoperoxidase method. Antigen retrieval was carried out by means of microwave pretreatment or autoclaving. The antibody panel used comprised D-20 (1/500), I-20 (1/100), K-18 (1/100), and MS110 (Ab-1; 1/50). RESULTS:No immunohistochemical differences in BRCA1 protein expression were found between cases with and without BRCA1 germline mutations. All positive cases showed predominantly cytoplasmic staining, in both tumoral and non-tumoral cells, with the polyclonal antibodies D-20, I-20, and K-18. After heating pretreatment both nuclear and cytoplasmic staining were found in tumoral and non-tumoral cells with the I-20 antibody. Only the monoclonal antibody MS110 showed a predominantly nuclear staining after microwave oven treatment. CONCLUSIONS:Commercially available BRCA1 antibodies lack the specificity required to identify the BRCA1 protein and thus are not useful for establishing differences between familial and sporadic breast tumours, or between BRCA1 associated and non-BRCA1 associated breast tumours. 相似文献
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Seven isolates of Encephalitozoon hellem from human immunodeficiency virus-positive patients were genotyped through a series of markers: the internal transcribed spacer (ITS) of ribosomal DNA, the polar tube protein (PTP) gene, and two intergenic spacers (IGS-TH and IGS-HZ) whose polymorphism is newly reported. The genome markers were all analyzed at three levels: PCR amplification followed by polyacrylamide gel electrophoresis, single-strand conformation analysis (SSCA), and DNA sequencing. The polymorphisms detected involve insertions/deletions and point mutations. SSCA can distinguish any pair of sequences, even those differing by a single base pair. The different isolates studied fit into the previously described ITS genotype 1A, except one which seems to be a 2A derivative variant (2D). When PTP and the new markers IGS-TH and IGS-HZ were analyzed, most of the isolates displayed different genotypes, demonstrating that E. hellem has a strong intraspecies variability. A set of markers such as those used here may be very useful in genotyping of clinical samples and in the assessment of epidemiological relationships among E. hellem strains. 相似文献
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目的 建立抑癌基因APC(adenomatous polyposis coli,APC)启动子1A的甲基化定量芯片检测方法。方法选取一段420bp的APC基因启动子1A CpG密集序列作为靶序列,针对M0、M1、M2、M3、M4 5个CpG靶位点,设计一套检测甲基化与非甲基化的探针。采用脐带血DNA克隆体作为阴性、阳性质控品。结果甲基化阳性、阴性质控的芯片结果与测序吻合。每组探针中荧光强度由强至弱依次为,阳性质控(甲基化):探针1〉2、3〉4;阴性质控(非甲基化):探针3〉4、1〉2。5个位点的5条荧光强度标准曲线,尺。范围是0.93~0.99。M0、M1、M2、M3、M4 5个位点甲基化杂合型的检测范围分别为50.0%±3.6%、50.0%±6.9%、50.0%±3.5%、50.0%±8.5%、50.0%±7.3%。结论建立了APC基因启动子5个COG位点的甲基化定量检测芯片。 相似文献
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Yoshiyuki Watanabe Ichiro Maeda Ritsuko Oikawa Wenwen Wu Kyoko Tsuchiya Yasuo Miyoshi Fumio Itoh Ko‐ichiro Tsugawa Tomohiko Ohta 《Genes to cells : devoted to molecular & cellular mechanisms》2013,18(12):1120-1130
Dysregulation of homologous recombination (HR) DNA repair has been implicated in breast carcinogenesis and chemosensitivity. Here, we investigated the methylation status of sixteen HR genes and analyzed their association with tumor subtypes and responses to neoadjuvant chemotherapy. Core specimens were obtained before neoadjuvant chemotherapy from sixty cases of primary breast cancer of the following four subgroups: luminal breast cancer (LBC) with pathological complete response (pCR), LBC with stable disease, triple‐negative breast cancer (TNBC) with pCR and TNBC with poor response. The aberrant DNA methylation status of the following HR related‐genes was analyzed using bisulfite‐pyrosequencing: BRCA1, BRCA2, BARD1, MDC1, RNF8, RNF168, UBC13, ABRA1, PALB2, RAD50, RAD51, RAD51C, MRE11, NBS1, CtIP and ATM. Among the genes analyzed, only the incidence of BRCA1 and RNF8 methylation was significantly higher in TNBC than that in LBC. Whereas the incidence of BRCA1 methylation was tended to be higher in pCR cases than in poor‐response cases in TNBC, that of RNF8 was significantly lower in pCR cases than in poor‐response cases. Our results indicate that the methylation status of HR genes was not generally associated with TNBC subtype or chemosensitivity although hypermethylation of BRCA1 is associated with TNBC subtype and may impact chemosensitivity. 相似文献
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Wilcox CB Baysal BE Gallion HH Strange MA DeLoia JA 《Cancer Genetics and Cytogenetics》2005,159(2):114-122
Both hereditary and sporadic ovarian tumors frequently have decreased BRCA1 expression. One mechanism of downregulating BRCA1 expression is hypermethylation of the BRCA1 promoter. Studies have shown that the BRCA1 promoter is aberrantly hypermethylated in a subset of ovarian tumors, although the proportion varies widely between reports. High-resolution analysis of the BRCA1 promoter in ovarian cancer may provide information regarding the extent and heterogeneity of methylation and guide future studies using methylation-specific polymerase chain reaction (MS-PCR). We screened 50 primary epithelial ovarian tumors for BRCA1 promoter hypermethylation using MS-PCR. The BRCA1 promoter was hypermethylated in 16% (8 of 50) of the tumors, including two stage IA tumors. Sequence analysis of the promoter revealed that methylation of the CpG island is both extensive and mosaic in the methylated samples. Two CpG dinucleotides in the BRCA1 promoter, within and adjacent to a Myb consensus binding site, were most frequently methylated in ovarian tumors. BRCA1 expression was significantly lower in methylated than in unmethylated samples. Our analysis of the BRCA1 promoter revealed preferential methylation of specific CpG sites in ovarian tumors. This finding could be exploited in the design of highly sensitive MS-PCR assays for direct assessment of tumor DNA and potentially for early detection of ovarian cancer in body fluids. 相似文献
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