乳腺肿瘤组织Ha-ras基因蛋白表达与血清CA15-3水平的相关性及其临床价值

用免疫组化ＡＢＣ法和ＩＲＭＡ法分别检测了４２例乳腺癌和３０例良性乳腺病变患者组织中Ｈａ－ｒａｓ基因蛋白（ｒａｓＰ２１）的表达状况及血清ＣＡ１５－３值，结果恶性病变组织中ｒａｓＰ２１呈过度表达，ｒａｓＰ２１的表达与细胞的分化状态密切相关。不同淋巴结转移状况的乳腺癌患者，其血清ＣＡ１５－３差异呈显著性。ＣＡ１５－３水平的变化与ｒａｓＰ２１表达状况显著相关。提示血清ＣＡ１５－３水平为监测乳腺癌病情变化的良好指标，Ｈａ－ｒａｓ癌基因点突变的结果可能导致乳腺癌相关抗原的异常分泌。     

Unusual features in children with inv dup(15) supernumerary marker: a study of genotype-phenotype correlation in Taiwan

Recent molecular cytogenetic studies have elucidated the origin and nature of extra structurally abnormal chromosomes (ESACs) or small supernumerary chromosomes, which are often associated with developmental delay and malformations. We studied the prevalence of inv dup(15) in a nationwide screening programme for mentally retarded children in Taiwan and tried to correlate the genotype and phenotype in those patients. Fluorescence in situ hybridization (FISH) analysis using D15Z, D15Z1, and the cosmids from the Prader-Willi/Angelman syndrome chromosome region (PW/ASCR) was performed on 54 patients (0.45%) with ESACs from 11893 probands within a 5-year period. Of them, inv dup(15) was confirmed in 25 children (46.3%) by FISH analysis. The PW/ASCR probes were used to clarify the size and DNA composition of the markers. Patients with inv dup(15) chromosomes, containing only the heterochromatin or little euchromatin of the proximal 15q (i.e., pter→q11:q11→pter) may have a rather mild or nearly normal phenotype (group 1). Only one patient had some features suggestive of Angelman syndrome, but was considered to be a result of deleted (15)(q12) in the chromosome 15 homologue. Additional copies within D15S11 through GABRB3 (15q11.2-13) resulted in an abnormal phenotype which involved mental and developmental delay but was different from the classical phenotype of PW/AS (groups 2, 3). Signs of autistic behavior did occur in each group. FISH combined with microsatellite analyses showed that the marker was often of maternal origin in de novo cases (n = 12, 86%), or inherited from the mother in only one familial case. Down-inv dup(15) was mentioned in two cases. Unusual features including diaphragmatic eventration, hyperlaxity of joints, arachnodactyly, brain atrophy, epilepsy (particularly infantile spasm), ataxia, genital abnormalities, and cleft lip/palate were noted in those patients. This observation expands the range of phenotypic expression associated with this relatively common ESAC. Conclusion Marked phenotypic diversities exist in children with inv dup(15), dependent upon the size or genetic composition of the markers, degree of mosaicism, parental origin and familial occurrence or not. Patients with a larger inv dup(15) marker chromosome including the PW/ASCR may have a higher risk of abnormalities, but not the typical Prade-Willi/Angelman syndrome phenotype. Received: 11 February 1997 and in revised form: 20 May 1997 / Accepted: 20 May 1997     

IL-15对儿童MDS造血前体细胞bcl-2、bcl-xl mRNA表达的影响

目的 探讨IL-15对骨髓增生异常综合征(MDS)造血细胞bcl-2、bcl—xl mRNA表达的影响，以探索IL-15抑制MDS CD34^ 造血干／祖细胞凋亡的可能机制：方法 采用吸附单克隆抗体的免疫磁珠分离系统，分离纯化17例MDS患儿骨髓CD34^ 细胞，采用RT—PCR检测bcl-2、bcl—xl mRNA表达水平，观察IL-15对它们的影响。结果 IL-15可呈时间与剂量依赖性的增强体外培养的MDS造血前体细胞bcl-2、bcl—xl基因mRNA的表达。结论 IL-15可能为抑制MDS CD34^ 造血干／祖细胞凋亡的作用机制之一。     

骨髓增生异常综合征造血前体细胞对白细胞介素15反应的研究

目的　探讨儿童骨髓增生异常综合征 (MDS)造血前体细胞对白细胞介素 15 (IL 15 )的反应 ,为临床应用提供理论依据。方法　采用吸附单克隆抗体的免疫磁珠分离系统分离纯化 18例MDS患儿骨髓CD3 4 细胞 ,采用碘化丙锭染色、流式细胞仪分析和细胞核形态检测两种方法同时检测体外培养MDS造血前体细胞增殖、分化过程中的凋亡状况 ;观察IL 15对其影响 ,并进行定量分析。结果　在培养d8,IL 15浓度在 0～ 10 0ng/ml可呈剂量依赖性地抑制体外培养MDS骨髓造血前体细胞的凋亡。结论　IL 15可部分抑制体外培养的MDS造血前体细胞凋亡     

甲硫腺苷磷酸化酶在非小细胞肺癌中转录表达

目的 探讨甲硫腺苷磷酸化酶(MTAP)及其连锁基因p14，p15和p16在非小细胞肺癌中的转录表达变化情况。方法 采用RT-PCR方法检测15例新鲜肺癌标本及相应癌旁组织中MTAP及其边锁基因p14、p15和p16mRNA的表达情况。结果 MTAP在73．3％的肿瘤标本中不表达或转录水平降低5倍以上，而MTAP在癌旁对照组织中的表达率却高达93．3％；此外，MTAP在肺腺癌和鳞癌中的低表达现象无显著性差异，但在中／低分化肺癌中低表在显著高于高于分化癌。对7例标本分析表明，1例P15基因在正常组织及癌瘤中都高水平表达，1例均不表达。5例在癌标本中基本不表达．而在正常组织中表达；而p14和p16正常组织中转录表达水平很低，而在配对的7例肺癌组织中却分别有3项高表达。结论 MTPA基因低表达或丢失可能与肺癌的恶性程度密切相关，MTAP的缺失可能独立于p16之外，提示MTAP的低表达或缺失在肿瘤生物学中有其功基础的基础。     

IL-15cDNA转染人喉癌细胞系的建立及其表达的研究

目的建立转人白细胞介素-15(hIL-15)基因的喉癌细胞株,并研究hIL-15的表达情况。方法将携带人白细胞介素-15的质粒pcDNA3.1( )-hIL-15转导入人喉表皮样癌细胞Hep-2中,G418筛选阳性克隆,RT-PCR、Westernblot和ELISA法对hIL-15的表达进行检测。结果IL-15基因成功地转导入Hep-2细胞中并能高效表达。RT-PCR电泳结果显示hIL-15基因在mRNA水平有表达;ELISA法测得106个转染阳性细胞24h内培养上清液中hIL-15的含量为(185.0±12.2)pg/ml,空载体转染及未转染的细胞未检测到hIL-15。结论hIL-15基因成功转染人喉癌细胞系Hep-2细胞且能持续大量表达。     

血液系统疾病中LRP15基因启动子区甲基化状态的研究

目的:探讨LRP15基因启动子区及第一外显子区的甲基化与血液系统疾病的关系和临床意义。方法:采用甲基化特异性PCR方法检测了9例正常人、73例急性白血病患者、8例慢性髓系白血病患者、2例慢性淋巴细胞白血病、12例血液系统良性病患者骨髓LRP15基因启动子区及第一外显子区的甲基化状况;硫化修饰结合限制性内切酶分析及硫化测序验证了一例血液系统良性病患者LRP15基因启动子区及第一外显子区的甲基化。结果:AL患者LRP15基因甲基化阳性率(71.23%)高于正常供者及慢性白血病(10%),差异有统计学意义(P<0.05)。LRP15基因在非恶性血液病患者中甲基化阳性率(55.56%)高于正常供者,硫化修饰结合限制性内切酶分析及硫化测序进一步证实了上述结论。结论:LRP15基因启动子的甲基化与不成熟的白血病细胞有关,与血液系统良性疾病也有一定关系。     

生长分化因子15与猝死的相关性研究

目的:探索生长分化因子15(growth differentiation factor 15, GDF15)对猝死（sudden death, SD）患者的预警预测价值。方法:选取2018年1月至12月于解放军总医院第一临床中心急诊科就诊的SD患者49名纳入病例组,随机（随机数字法）选取于解放军总医院体检中心就诊的健康...     

超声引导下不同部位中心静脉置管在婴幼儿休克中的应用及临床分析

目的分析超声引导下不同部位中心静脉置管在婴幼儿休克中应用的临床特点，探讨在婴幼儿休克中应如何快速选择中心静脉置管部位。方法回顾性收集2016年1月至2020年12月广东医科大学附属东莞儿童医院儿童重症监护室收治的112例诊断为休克并进行中心静脉置管的婴幼儿临床资料，根据是否在超声引导下进行置管分为超声组（70例）及体表定位组（42例），总结分析患儿在超声引导下不同部位置管的应用情况，对各部位置管的一针成功率、总成功率、置管时间及并发症进行比较。结果与体表定位组相比，超声组颈内静脉及股静脉置管的一针成功率增高，置管时间缩短，并发症发生率减少（P<0.05）。超声组中，行颈内静脉置管比例最高（51%，36/70），其次为股静脉（33%，23/70），锁骨下静脉最少（16%，11/70）。超声引导下不同置管部位比较，颈内静脉成功置管时间最短［5.5（5.0，6.5）min］（P<0.05）；不同置管部位的并发症发生率比较差异无统计学意义（P>0.05）。结论在婴幼儿休克状态下，应用超声引导下行颈内静脉置管可作为临床医生优先选择的置管方式。     

Study on Hot Deformation Behavior of an Antibacterial 50Cr15MoVCu Tool Steel

Hot deformation behaviors of an antibacterial 50Cr15MoVCu tool steel were studied. The flow stress curves presented three typical characteristics: (i) a single peak dynamic recrystallization curve, (ii) a monotone incremental work-hardening curve, and (iii) the equilibrium dynamic recovery curve. The flow stress increased with the increase of the deformation rate at each deformation temperature and decreased with the increase of the deformation temperature at the same deformation rate. The thermal activation energy and material constants were Q of 461.6574 kJ/mol, A of 3.42 × 10¹⁷, and α of 0.00681 MPa⁻¹, respectively. The high temperature constitutive equation was: Z=ε˙expQ/RT=3.42×1017sinh0.0068×σ5.6807. Based on the processing maps and microstructure evolution, the best hot working process was a deformation temperature of 1050 °C and deformation rate of 0.001 s⁻¹.