Chromosomal Mosaicism in Cleavage-Stage Human Embryos and the Accuracy of Single-Cell Genetic Analysis

Purpose: Our purpose was to assess the effect of chromosomal mosaicism in cleavage-stage human embryos on the accuracy of single-cell analysis for preimplantation genetic diagnosis. Methods: Multicolor fluorescence in situ hybridization with X, Y, and 7 or X, Y, 7, and 18 chromosome-specific probes was used to detect aneuploidy in cleavage-stage human embryos. Results: Most nuclei were diploid for the chromosomes tested but there was extensive mosaicism including monosomic, double-monosomic, nullisomic, chaotic, and haploid nuclei. Conclusions: Identification of sex by analysis of a single cleavage-stage nucleus is accurate but 7% of females are not identified. One or both parental chromosomes 7 were absent in at least 6.5% of the nuclei. With autosomal recessive conditions such as cystic fibrosis, carriers would be misdiagnosed as normal or affected. With autosomal dominant conditions, failure to analyze the affected parents allele (1.6–2.5%) would cause a serious misdiagnosis and analysis of at least two nuclei is necessary to reduce errors.     

Conjoined twin's cephalothoracopagus janiceps monoymmetros: a case report

We present a report on a case of conjoined twin/s (cephalothoracopagus janiceps monosymmetros) diagnosed by ultrasonography and X-ray at 27 weeks' gestation. Accepted: 29 December 1997     

Incidence of Chromosomal Abnormalities from a Morphologically Normal Cohort of Embryos in Poor-Prognosis Patients

Purpose: Preimplantation genetic diagnosis of aneuploidy was performed on the embryos yielded by 70 poor-prognosis patients, with the aim of transferring those with a normal chromosomal complement, thus possibly increasing the chances of pregnancy. Methods: Multicolor fluorescence in situ hybridization (FISH) was applied for the simultaneous detection of chromosomes X, Y, 13, 16, 18, and 21. Inclusion criteria were (1) a maternal age of 36 years or older (n = 33), (2) three or more previous in vitro fertilization cycles (n = 20), and (3) an altered karyotype (n = 17). Results: A total of 412 embryos underwent FISH, resulting in 234 (57%) that were chromosomally abnormal. Euploid embryos were available for transfer in 59 patients, generating 19 pregnancies (32%), with an implantation rate of 19.9%. Conclusions: High rates of chromosomally abnormal embryos in poor-prognosis patients can determine repeated in vitro fertilization failures when embryo selection is performed on the basis of morphological criteria alone. Hence, the FISH analysis could represent the prevailing approach for the identification of embryos possessing full potential for developing to term.     

中医辨证规范所要解决的基本问题

本文认为在依托西医疾病的前提下，中医辨证规范应着重解决两方面的问题：一是病证所属症状、体征的规范，其中包括症状术语的规范、症状间逻辑关系规范、症状体征分级规范、症状体征测量方法规范；二是疾病所属各证的规范，具体完成疾病所属各证基本构成规范、疾病所属各证构成比确定、疾病所属各证的症状构成规范、疾病所属中医各证临床诊断规范、疾病所属中医各证基本演变规律的确认、西医疾病分期、分类、分型等与所属中医各证对应关系的确认等。规范方法应兼顾逻辑分析、数理统计和数据挖掘等。     

代谢综合征与微观证治学研究

代谢综合征（MS）的后果主要为心血管损害，导致冠心病、脑卒中、肾功能不全和外周动脉粥样硬化。MS微观证治的主要靶点为糖脂代谢和心血管系统。应用微观证治学研究代谢综合征，主要研究调血脂、降血压、降血糖、消血凝的防治方药。     

影像检查对鉴别甲状腺肿瘤良恶性的意义

目的 探讨影像检查在甲状腺肿瘤术前诊断中的作用。方法 回顾分析658例甲状腺肿瘤的术前彩超、ECT、CT检查结果，和术后病理对比，讨论各项检查的应用价值。结果 彩超符合率76.0%, ECT符合率75.1%,CT符合率55.6%。结论 彩超、ECT对甲状腺肿瘤术前诊断有重要价值，应作为常规检查。CT对较大肿块的诊断及分辨与周围组织的关系有意义，可做为较大肿块及腺外浸润恶性甲状腺肿瘤的术前检查。     

贲门癌的显微自体荧光研究

目的:探讨贲门癌显微自体荧光图象的特征表现。方法:采用激光扫描共聚焦显微镜,以氩离子(Ar+)激光(EX=488nm)和氦氖激光(He-Ne)(EX=543nm)为激发光的双通道法,对12例贲门癌手术标本包括贲门癌组织与同体胃体组织进行自体荧光检测,并进行显微图象分析和自体荧光强度的比较。结果:癌细胞的高度增生和浸润使组织原有结构被破坏。贲门癌组织癌细胞浸润区域的平均自体荧光强度绿光为62·03,红光为18·50,而正常胃体组织平均荧光强度为:绿光168·06,红光139·79。与正常组织各层分别比较,癌组织的自体荧光强度均明显减弱,差异有统计学意义,P值均<0·01。结论:贲门癌与正常胃体组织的显微自体荧光无论在形态、颜色和分布上,还是在荧光强度上都存在巨大的差异。     

淋巴瘤患者血清中肿瘤相关物质群的水平及其临床意义

目的:探讨肿瘤相关物质群(tumor supplied group of factors,TSGF)在淋巴瘤患者血清中的含量变化及其临床意义。方法:用比色法测定60例淋巴瘤(霍奇金淋巴瘤2例,非霍奇金淋巴瘤58例)患者的血清TSGF水平,以血清TSGF≥64U/mL定为阳性阈值。结果:初治前(n=25)不同临床分期(Ⅰ期3例,Ⅱ期7例,Ⅲ期10例,Ⅳ期5例)患者的血清TSGF水平差异无纺计学意义[Ⅰ期(57·33±8·58)、Ⅱ期(68·43±9·21)、Ⅲ期(66·20±7·73)、Ⅳ期(59·80±5·31)U/mL],各临床分期患者TSGF阳性率分别为33·3%、71·4%、70%和40%;未缓解/难治复发组[n=17,(69·35±11·53)U/mL]和初诊治疗前组[n=25,(64·64±8·36)U/mL]的血清TSGF水平显著高于CR/PR组[n=18,(56·83±6·26)U/mL]和正常对照组[n=66,(55·53±5·26)U/mL];各组TSGF阳性率分别为70·6%、60%、16·7%和1·5%;未发现初治前组TSGF值的高低与化疗反应有关;血清TSGF值持续高水平的患者顽固耐受化疗且预后极差。结论:血清TSGF水平与淋巴瘤病理状态有关,并具有预后意义。     

肿瘤标记物和CT联检对肺癌的诊断价值

目的:探讨多种肿瘤标记物检测联合CT扫描在肺癌诊断中的价值。方法:90例肺癌和20例肺良性病变患者与20名正常人,检测其血清NSE、CEA和CYFRA21-1三项肿瘤标记物含量,同时行肺部CT扫描检查。结果:肺癌组血清三项肿瘤标记物含量均高于正常对照组和肺良性病变组,P=0·000;NSE在小细胞肺癌中高表达(36·21±19·01)μg/L,CEA在肺腺癌中高表达(50·09±25·36)μg/L,CYFRA21-1在肺鳞癌中高表达(17·72±12·05)μg/L,三项肿瘤标记物的血清浓度与肺癌病理类型有关,P=0·001;肿瘤标记物和CT扫查对肺癌分型诊断总体符合率分别为79·2%和62·5%,联合检测的总体符合率为87·8%,联合检测优于单项检测,P=0·039;三项肿瘤标记物的含量在肺癌各期间差异无统计学意义,P>0·05。结论:多种肿瘤标记物联检,可提高肺癌分型的诊断符合率,结合CT分期有助于选择针对性的治疗方案。肿瘤防治杂志,2005,12(19):1480-1482     

纤维支气管镜抽吸物中检测HnRNP A2/B1在肺癌诊断中的价值

目的:研究纤维支气管镜(简称纤支镜)抽吸物中异质性细胞核核糖蛋白A2/B1(HnRNP A2/B1)的表达与肺癌的相关性及其用于肺癌诊断的可行性。方法:利用免疫细胞化学的方法检测经病理学或(和)细胞学确诊的肺癌患者和非肺癌患者的纤支镜抽吸物中HnRNP A2/B1的表达情况,并分析其表达水平的差异性。结果:1) HnRNP A2/B1 在肺癌组和非肺癌组患者纤支镜抽吸物中表达阳性率分别为68. 6%(83/121)和13. 6%(3/22),两组比较差异有统计学意义,P<0. 05。2) HnRNPA2/B1在不同病理类型中表达阳性率也不同,鳞癌为67. 6% ( 50/74 ), 腺癌为60. 0%(18/30),小细胞癌为88 2%(15/17),差异有统计学意义,P< 0 .05。结论: HnRNP A2/B1 在肺癌患者纤支镜抽吸物中表达的敏感性为68 .6%(83/121),特异性为86. 4%(19/22),可用于肺癌的诊断。