首页 | 本学科首页   官方微博 | 高级检索  
相似文献
 共查询到20条相似文献,搜索用时 15 毫秒
1.
We report that a 63-year-old Chinese female had acute myeloblastic leukemia (AML) in which trisomy 21 (+21) was found as the sole acquired karyotypic abnormality. The blasts were positive for myeloperoxidase, and the immunophenotype was positive for cluster of differentiation 19 (CD19), CD33, CD34, and human leukocyte antigens (HLA)-DR. The chromosomal analysis of bone marrow showed 47,XX,+21[2]/46,XX[18]. Fluorescent in situ hybridization (FISH) showed that three copies of AML1 were situated in separate chromosomes, and that t(8;21) was negative. The patient did not have any features of Down syndrome. A diagnosis of CD19-positive AML-M5 was established with trisomy 21 as a sole acquired karyotypic abnormality. The patient did not respond well to chemotherapy and died three months after the diagnosis. This is the first reported case of CD19-positive AML with trisomy 21 as the sole cytogenetic abnormality. The possible prognostic significance of the finding in AML with +21 as the sole acquired karyotypic abnormality was discussed.  相似文献   

2.
For investigating the possibility of applying degenerate oligonucleotide primer PCR (DOP-PCR) and comparative genomic hybridization (CGH) technique to analyses of genomic genetics in a single cell, the whole genomic DNA of a single cell with XX, XY, XO, XXY, +13 or +21 was amplified by DOP-PCR. Single cell DOP-PCR CGHs with conventional and modified control references, the genomic DNA and a single cell DOP-PCR product from normal male, were carried out respectively. The results showed that the average profile of the fluorescence intensity ratio in CGH with the genomic DNA as reference fluctuates much and that the standard deviation in about 30% haploid is beyond the normal limits. False positive hyper-representation was found to exist in X chromosome while trisomy 13 and 21 were not detected. However, the distributions of the mean and the standard deviation of the ratio in the CGH with DOP-PCR product as reference were quite acceptable. The copy number changes of chromosome X, Y, 13 and 21 were revealed. Those results suggested that there is unrandom unequal amplification in a single cell DOP-PCR. Using a single DOP-PCR product as reference can decrease its influence on CGH. Single cell DOP-PCR-CGH and its application in the genetic analyses of preimplantation embryo or fetal cell in maternal blood may be possible.  相似文献   

3.
INTRODUCTIONFluorescencein situhybridization (FISH )andpolymerasechainreaction (PCR)hadbeensuccessfullyusedforpreimplantationgenenticdi agnosis (PGD ) (Verlinskyetal.,1 997,Sabtaloetal.1 995)althoughtheynormallyonlyofferinformationfromoneorfewchromosomere gionsorsp…  相似文献   

4.
5.
Objective: To evaluate the effect ofpreimplantation genetic diagnosis (PGD) conducted for women who had Down syndrome pregnancy previously. Methods: Trisomy 21 was diagnosed by using fluorescence in site hybridization (FISH) before embryo transfer in two women who had Down syndrome pregnancies. Each received one or two PGD cycles respectively. Results: Case 1: one PGD cycle was conducted, two oocytes were fertilized and biopsied. One embryo is of trisomy 21 and the other of monosomy 21. No embryo was transferred. Case 2: two PGD cycles were conducted, in total, sixteen oocytes were fertilized and biopsied. Four embryos were tested to be normal, six of trisomy 21, and one of monosomy 21. Five had no signal. Four normal embryos were transferred but no pregnancy resulted. Conclusion: For couples who had pregnancies with Down syndrome previously, PGD can be considered, and has been shown to be an effective strategy.  相似文献   

6.
Mutations of fms-like tyrosine kinase 3 (FLT3) and nucleophosmin (NPM1) exon 12 genes are the most common abnormalities in adult acute myeloid leukemia (AML) with normal cytogenetics. To assess the prognostic impact of the two gene mutations in Chinese AML patients, we used multiplex polymerase chain reaction (PCR) and capillary electrophoresis to screen 76 AML patients with normal cytogenetics for mutations in FLT3 internal tandem duplication (FLT3/ITD) and exon 12 of the NPM1 gene. FLT3/ITD mutation was detected in 15 (19.7%) of 76 subjects, and NPM1 mutation in 20 (26.3%) subjects. Seven (9.2%) cases were positive for both FLT3/ITD and NPM1 mutations. Significantly more FLT3/ITD aberration was detected in subjects with French-American-British (FAB) M1 (42.8%). NPM1 mutation was frequently detected in subjects with M5 (47.1%) and infrequently in subjects with M2 (11.1%). FLT3 and NPM1 mutations were significantly associated with a higher white blood cell count in peripheral blood and a lower CD34 antigen expression, but not age, sex, or platelet count. Statistical analysis revealed that the FLT3/ITDpositive group had a lower complete remission (CR) rate (53.3% vs. 83.6%). Survival analysis showed that the FLT3/ITD-positive/NPM1 mutation-negative group had worse overall survival (OS) and relapse-free survival (RFS). The FLT3/ITD-positive/NPM1 mutation-positive group showed a trend towards favorable survival compared with the FLT3/ITD-positive/NPM1 mutation-negative group (P=0.069). Our results indicate that the FLT3/ITD mutation might be a prognostic factor for an unfavorable outcome in Chinese AML subjects with normal cytogenetics, while NPM1 mutation may be a favorable prognostic factor for OS and RFS in the presence of FLT3/ITD.  相似文献   

7.
[目的]新的大肠癌相关性抗原EID3的基因克隆及其诊断价值研究.[方法]利用大肠癌病人体内血清中所含的对肿瘤抗原产生的特异性抗体筛选睾丸组织cDNA噬菌体表达文库和大肠癌组织cDNA噬菌体表达文库(SEREX),并用RT-PCR技术研究EID3 mRNA在正常组织和大肠癌传代细胞表达.[结果]睾丸组织cDNA噬菌体表达文库筛选得到了可以诱导大肠癌病人抗体免疫应答的新抗原EID3基因(Gen-bank NM_001008394.1).它们定位于染色体19q13.2,EID3含1个外显子.通过RT-PCR分析发现,EID3基因在43例大肠癌传代细胞株中,39例阳性,阳性率为90.7%.在正常组织中,除睾丸组织外不表达或有极低水平转录.[结论]EID3 mRNA表达检测用于诊断大肠癌,可能具有高特异性和高敏感性的特点.EID3蛋白被首次发现在大肠癌病人中能够诱导机体的抗体免疫应答,为一个新的大肠癌相关性抗原分子.其功能可能与抑制细胞的恶性增殖相关,并可进一步研究其用于治疗和诊断大肠癌的可行性.  相似文献   

8.
Transition services are central in preparing youth with disabilities for opportunities in postsecondary education, employment and independent living. The life skills education acquired in school may be the only resources they receive to help them with this transition. With COVID-19, educational systems were interrupted, including the access of students with disabilities to service provision and transition services. This study aimed to investigate the impact of COVID-19 on teachers' transition practices for students with disabilities in the State of Illinois, United States and to identify factors associated with the differences in teachers' practices across eight domains of transition. Results indicated statistical significant differences in transition practices before and during COVID-19 in all eight domains. Gender, Race, School Closings & Type of School did not show significant associations with any of the eight domains. Emotional Disability was found to have a significant association with all eight domains, whereas Intellectual Disability did not show significant association with any of the eight domains. Grade level and teachers' educational level showed significant associations with certain domains. Future investigations into how COVID-19 changed teachers' transition practices for students with disabilities and the long-term impact that these changes will have on students' post-secondary outcomes are needed.  相似文献   

9.
[目的]探讨原发性中枢神经系统血管炎(PACNS)的临床与影像学表现,提出诊断及鉴别诊断要点.[方法]对2例疑诊PACNS的病例进行常规MR I、MRA扫描,分析常规MR I病变部位、信号特点、强化特征及MRA情况.[结果]2例均有头痛症状,无语言障碍,表现为肢体轻度无力,体检左肢肌力5级减,轻度中枢性面瘫.MR I显示病灶位于单侧,主要位于白质内,可累及灰质,分布以额叶、顶叶为主,小脑、胼胝体、丘脑亦受累,T1呈略低信号,T2呈略高信号,增强后两例均有多发斑片状或脑回样强化.MRA 2例均正常.1例腰穿CSF-OB(+)、CSF-24 h IgG鞘内合成率增高,1例脑脊液髓鞘碱性蛋白增高,未见寡克隆区带,24 h IgG合成率正常.1例免疫全套:抗组蛋白抗体及抗核抗体筛检试验阳性,以上提示病变与自身免疫性相关,但不具有特异性.2例ANCA均正常.[结论]PACNS临床和影像学表现多样,MR I、MRA、DSA对诊断有一定价值.  相似文献   

10.
应用免疫组化SP法对94例乳腺癌、41例乳腺良性病变和10例正常乳腺组织进行了细胞粘附分子CD_(15)检测。结果发现,CD_(15)。在乳腺癌和乳腺良性病变的阳性率分别为79.8%和58.3%,两者有显著差异性(P<0 01),10例正常乳腺组织仅4例呈CD_(15)弱阳性反应。CD_(15)表达与患者年龄和肿瘤大小无显著关系。CD_(15)表达阳性率在浸润性导管癌中显著高于单纯癌(P<0.05),组织学Ⅱ~Ⅲ级显著高于Ⅰ级者(P<0.05),临床Ⅲ一Ⅳ期显著高于Ⅰ期和Ⅱ期者(P<0.05),淋巴结转移阳性组显著高于阴性组(P<0.01)。在一组原发部位和淋巴结转移性乳腺癌配对标本中,CD_(15)表达无明显差异性。CD_(15)阳性的乳腺癌Cath-D和c-erbB-2的表达阳性率均显著高于CD_(15)阴性者(P<0.001)。结果提示,CD_(15)的表达与乳腺癌的发生发展、浸润转移及预后有密切关系。  相似文献   

11.
12.
目的:寻求胰腺癌的诊断方法,方法:用免疫放射分析法(IRMA)检测血清CA-19-9含量,106例血清CA-19-9含量3700u/L,进行追踪随访,结果:106例中,胰腺癌66例,结肠癌15例,胆管癌13例,肺癌9例,结论:检测血清CA-19-9含量,有利于胰腺癌的诊断和与结肠癌,胆管癌,肺癌等恶性肿瘤的鉴别。  相似文献   

13.
1IntroductionHyper-IgMsyndrome(HIM)isarareimmunodeficiencycharacterizedbyanincreasedsusceptibilitytorecurrentinfectionsandmar...  相似文献   

14.
[目的]探讨粘附分子CD18、CD54粘附功能及其表达变化与急性脑梗塞(ACI)关系.[方法]用流式细胞术检测88例ACI患者白细胞粘附分子CD18、CD54含量与脑梗塞发生时程、部位、面积及治疗前后表达。并与30例正常人作对照.[结果]ACI患者CD18、CD54表达明显增高,与正常对照组比较差异显著(P<0.05),与梗塞面积、部位关系不大;ACI患者CD18、CD54表达在7d内均可有较高水平的表达,治疗10d后表达降低,治疗前后比较CD18、CD54差异有意义(P<0.05).[结论]CD18、CD54参与脑梗塞发生发展病理过程.可做为诊断脑梗塞、评估预后的一项辅助指标.  相似文献   

15.
"被自杀"、"被就业"等一系列看似不合语法规则的"被XX"结构在网络、报纸得到广泛应用,其与传统被字句存在很大差异。句法上,充当"XX"的范围非常宽泛,可以是不及物动词、非处置性及物动词、形容词、名词以及少量数字、短语、单音节词。语义上,具有遭受、被动义的"被"字与具有自主、自发义的"XX"组合,通过语义内涵上的矛盾凸显受事的"非自愿性"、"非知情性"以及事件的"非真实性"。语用上,新"被XX"结构言简义丰,运用隐喻的修辞手法表达了受事复杂的思想感情。  相似文献   

16.
2020年初突如其来的新冠肺炎疫情使社会几乎陷入停摆。疫情当前,严峻的防控需求伴随危机显现。信阳师范学院地理科学学院“视频GIS研发团队”,以疫情防控的社会需求为创新原动力,以专业教师的指导为关键支撑,借助团队合作的组合拳,创新研发出一款能展现新冠肺炎疫情空间分布的“疫慧图”,实现实时确诊病例查询、患者定位、展示等多种功能,为疫情分析与防控起到积极作用。“疫慧图”的成功研发,为高校如何做好创新型人才培养提供了有效借鉴。  相似文献   

17.
目的:检测CD44v6mRNA和HSP70mRNA在胃癌组织中的表达,探讨CD44v6mRNA和HSP70mRNA在胃癌发生发展中的作用.方法:利用核酸原位杂交技术对39例胃癌组织进行检测.结果:CD44v6mRNA和HSP70mRNA在胃癌组织表达的阳性率都为61.54%(24/39),CD44v6mRNA和HSP70mRNA在高分化管状腺癌与低分化管状腺癌中的表达都有显著性差异(P<0.05),但HSP70mRNA在胃癌组织的表达与性别、年龄、浸润深度及淋巴结有无转移都无关(P>0.05),而CD44v6mRNA与淋巴结有无转移有关(P<0.05).结论:CD44v6mRNA和HSP70mRNA在胃癌组织都有较高的表达,两者均可作为评估胃癌预后的指标.  相似文献   

18.
目的:探讨孕中期产前筛查和产前诊断在临床中的应用和意义。方法:应用时间分辨法,以血清AFP、β-HCG作为指标,对4 760例在孕15~20+6周孕妇进行产前筛查,对筛查为高风险的孕妇进行一对一的遗传咨询和产前诊断,并在产后3月内对其分娩结局进行随访观察。结果:随访中发现有不同程度畸形、流产、死胎等不良妊娠共29例:高风险者6例,低风险者23例。其中羊水染色体异常2例、超声检查检出各种畸形(开放性神经管畸形如脊柱裂、小头畸形、脑膨出等)6例、内脏畸形(如先心病、肾发育不良、胎儿宫内发育异常等)5例。不明原因死胎、晚期流产3例,21-三体新生儿1例(产前筛查唐氏高风险而拒绝羊水穿刺细胞学检查所致)。结论:孕中期产前筛查和产前诊断可降低出生缺陷的发生。  相似文献   

19.
A rapid sample treatment procedure for the gas chromatography-tandem mass spectrometry (GC-MS) determination of 19-nortestosterone (19-NT) in animal tissues has been developed. In our optimized procedures, enzymatic hydrolysis with β-glucuronidase from Escherichia coli was performed in an acetate buffer (pH 5.2, 0.2 mol/L). Next, the homogenate was mixed with methanol and heated at 60 °C for 15 min, then placed in an ice-bath at −18 °C for 2 h. After liquid-liquid extraction with n-hexane, the analytes were subjected to a normal-phase solid phase extraction (SPE) C18 cartridge for clean-up. The dried organic extracts were derivatized with heptafluorobutyric anhydride (HFBA), and then the products were injected into GC-MS. Using electron impact mass spectrometry (EI-MS) with positive chemical ionization (PCI), four diagnostic ions (m/z 666, 453, 318, and 306) were determined. A standard calibration curve over the concentration range of 1–20 ng/g was reached, with Y=467 084X-68 354 (R 2=0.999 7) for 19-NT, and the detection limit was 0.3 ng. When applied to spiked samples collected from bovine and ovine, the recoveries ranged from 63% to 101% with relative standard deviation (RSD) between 2.7% and 8.9%. The procedure is a highly efficient, sensitive, and more economical method which offers considerable potential to resolve cases of suspected nandrolone doping in husbandry animals.  相似文献   

20.
In 2008, the UK Labour government unveiled plans to abolish the Learning and Skills Council and transfer funding for the education and training of 16–19‐year‐olds in England to local authorities (LAs). The transfer of 16–19 funding complements the responsibilities that LAs have already acquired in relation to the raising of the education and training ‘participation age’ and ensuring that all young people have access to a full 14–19 curriculum entitlement in their area. Such a move might be read as part of the ‘new localism’ that has gained currency under the Prime Minister, Gordon Brown, as well as an opportunity to rein back from an English education and training system that has become increasingly centralised and ‘top‐down’. Indeed, some commentators have argued for a new model of governance based on ‘devolved social partnership’, with input from a wider range of stakeholders and the space for policy levers to be shaped more at local level. Drawing upon interviews with key personnel in LAs and other stakeholders, this paper examines the opportunities and challenges that LAs face in their new role, whether this amounts to a genuine devolution of power, and the prospects for ‘devolved social partnership’.  相似文献   

设为首页 | 免责声明 | 关于勤云 | 加入收藏

Copyright©北京勤云科技发展有限公司  京ICP备09084417号