HOXB7 siRNA表达载体在裸鼠体内对人恶性黑色素瘤细胞株的影响

目的 探讨转染同源盒第7基因(HOXB7)siRNA质粒表达载体对人恶性黑色素瘤细胞株A375在裸鼠体内生长的影响.方法 裸鼠皮下接种人恶性黑色素瘤A375细胞,对2周后形成的瘤块进行分组干预.随机分为生理盐水对照组、阴性质粒组、HOXB7质粒组,观察转染后各组裸鼠移植瘤的生长情况;免疫组化法比较瘤体内微血管密度(MVD).结果 HOXB7质粒组的裸鼠移植瘤块生长慢、体积明显小于生理盐水对照组[(0.134±0.039)cm3比(1.006±0.235)cm3,P＜0.05],而阴性质粒组瘤块体积大小与生理盐水对照组无统计学差异[(0.929±0.157)cm3比(1.006±0.235)cm3,P＞0.05].HOXB7质粒组裸鼠体内肿瘤MVD低于生理盐水对照组[(2.8±1.9)比(19.9±5.6),P＜0.05],阴性质粒组与生理盐水对照组无统计学差异[(18.1±5.5)比(19.9±5.6),P＞0.05].结论 针对HOXB7 siRNA质粒表达载体可有效抑制A375细胞裸鼠体内肿瘤生长和瘤内血管生成.     

Five haplotypes account for fifty-five percent of ATM mutations in Brazilian patients with ataxia telangiectasia: seven new mutations

We have studied the molecular genetics of 27 Brazilian families with ataxia telangiectasia (AT). Five founder effect haplotypes accounted for 55.5% of the families. AT is an autosomal recessive disorder of childhood onset characterized by progressive cerebellar ataxia, ocular apraxia, telangiectasia, immunodeficiency, radiation sensitivity, chromosomal instability, and predisposition to cancer. The ATM gene spans more than 150 kb on chromosome region 11q23.1 and encodes a product of 3056 amino acids. The ATM protein is a member of the phosphatidylinositol 3-kinase (PI-3K) family of proteins and is involved in cell cycle control and DNA repair pathways. DNA was isolated from lymphoblastoid cell lines and haplotyped using four STR markers (D11S1818, NS22, D11S2179, D11S1819) within and flanking the ATM gene; all allele sizes were standardized in advance. In addition to the STR haplotypes, SNP haplotypes were determined using 10 critical polymorphisms. The entire gene was screened sequentially by protein truncation testing (PTT), single strand conformation polymorphism (SSCP), and then denaturing high performance liquid chromatography (dHPLC) to identify the disease-causing mutations. Of the expected 54 mutations, 50 were identified. All mutations but one, led to a truncated or null form of the ATM protein (nonsense, splice site, or frameshift). Five families (18.5%) carried a deletion of 3450nt (from IVS28 to Ex31), making this one of the two most common Brazilian mutations. Mutations were located throughout the entire gene, with no clustering or hotspots. Standardized STR haplotype analysis greatly enhanced the efficiency of mutation screening.     

193例遗传咨询病例外周血染色体分析

分析遗传咨询病例１９３人的外周血染色体，发现异常核型２２例，占１１．４％，其中常染色体异常１５例，性染色体异常７例。就诊原因以不良孕产史占多数（６０．１％），智能低下及发育异常次之（２４．９％）。在所发现的２２例异常核型中，以智能低下及发育异常所占的比例最高（２２．９％），性发育异常次之（１８．２％）。     

Cloning and characterization of a novel gene which encodes a protein interacting with the mitosis-associated kinase-like protein NTKL

NTKL is an evolutionarily conserved kinase-like protein. The cell-cycle-dependent centrosomal localization of NTKL suggested that it was involved in centrosome-related cellular function. The mouse NTKL protein is highly homologous with human NTKL. A novel mouse protein was identified as an NTKL-binding protein (NTKL-BP1) by yeast two-hybrid screening, and the full-length cDNA was amplified based on the result of a sequence data analysis cloning strategy. The full-length cDNA sequence of the NTKL-BP1 gene consists of 2,537 bp, which encode 368 amino acids. A database search revealed that homologues of NTKL-BP1 exist in different organisms, including Arabidopsis thaliana, Drosophila melanogaster, Plasmodium falciparum, Geobacter metallireducens, Anopheles gambiae and human. It suggests that NTKL-BP1 is an evolutionarily conserved protein. The expression of NTKL-BP1 was observed in multiple normal mouse tissues. The interaction of the two proteins was confirmed by co-immunoprecipitation. Moreover, immunofluorescent staining indicated that NTKL and NTKL-BP1 were all localized in the cytoplasm.     

Pulmonary artery angiosarcoma: a clinicopathologic and radiological correlation

A 69-year-old man presented with cough, shortness of breath, and fatigue. He was initially treated for allergies and then for pulmonary embolism. Radiologically, a tumor mass was found to occlude the right pulmonary artery and involve the pulmonary trunk. A right pneumonectomy was performed. Histologically, a cellular malignant spindle and epithelioid tumor with areas of necrosis and brisk mitotic activity was seen. In some areas, the tumor appeared to form vascular channels. Focal osteosarcomatous differentiation was present. Immunohistochemical studies were performed including vimentin, smooth muscle actin, desmin, CD31, CD34, S100, and pan-cytokeratin. The tumor cells were positive for CD31 and vimentin and negative for pan-cytokeratin, CD34, and S100. Two months after surgery, the patient was alive and well.     

Changing seroepidemiology of hepatitis B, C, and D virus infections in high-risk populations

Needle-sharing and sexual contact are important transmission routes of hepatitis B, C, and D virus (HBV, HCV, HDV) infection. This study aimed to investigate the current status of these viral infections among high-risk populations including prostitutes and intravenous (i.v.) drug users, compared with the prevalence rate reported previously to examine the changing seroepidemiology. Of the 916 female prostitutes, 79 (9%) were positive for antibody to HCV (anti-HCV), 111 (12%) were positive for HBV surface antigen (HBsAg), and 5 (5%) had antibody to HDV (anti-HDV). The prevalence rate was significantly lower compared to that in 1989-1991 (12%, P = 0.037) for HCV infection, and to that in 1988 (59%) and 1996 (40%) (P < 0.0001) for HDV infection. Of the 494 i.v. drug users, 87 (18%) patients were HBsAg carriers and 12 (14%) were anti-HDV-positive. The prevalence rate of HDV infection was significantly lower than that reported in 1985 (79%, P < 0.0001). Among the 443 tested i.v. drug users, 182 (41%) were anti-HCV-positive, significantly lower than that in 1985 (53%, P = 0.026). Of the 263 male prostitutes, 11 (4%) were anti-HCV-positive, 45 (17%) were HBsAg-positive, and 7 (16%) were anti-HDV-positive. Of the 129 illegal immigrant prostitutes, 7 (5%) were anti-HCV-positive, 15 (12%) were HBsAg-positive and none were positive for anti-HDV. In conclusion, the findings indicate a declining prevalence of HCV and HDV infections among drug users and prostitutes over the past 16 years. Male prostitutes and immigrant prostitutes are new "high-risk" populations and may become a reservoir for disease transmission.     

Psychological Resilience,Experimentally Manipulated Social Status,and Dietary Intake among Adolescents

Relative to other racial/ethnic groups in the United States, Hispanic American (HA) youth have higher rates of overweight and obesity. Previous work suggests that low perceived social status (SS) promotes excess caloric intake and, thereby, development of obesity. Psychological resilience may play a role in reducing adverse eating behaviors and risk for obesity. The objective of this study was to investigate whether resilience (as measured by the Connor Davidson Resilience Scale) interacts with experimentally manipulated SS to affect dietary intake among HA adolescents (n = 132). Using a rigged game of Monopoly (Hasbro, Inc.), participants were randomized to a high or low SS condition. Following the Monopoly game, participants consumed an ad libitum lunch and their dietary intake was assessed. There was a significant interaction between resilience and experimentally manipulated SS for total energy intake (p = 0.006), percent energy needs consumed (p = 0.005), and sugar intake (p = 0.004). For the high SS condition, for each increase in resilience score, total energy intake decreased by 7.165 ± 2.866 kcal (p = 0.014) and percent energy needs consumed decreased by 0.394 ± 0.153 (p = 0.011). In the low SS condition, sugar intake increased by 0.621 ± 0.240 g for each increase in resilience score (p = 0.011). After correction for multiple comparisons, the aforementioned interactions, but not simple slopes, were statistically significant.     

肝癌细胞纤维肌动蛋白的共聚焦激光扫描显微镜光学切片观察

目的：建立培养细胞共聚焦激光扫描显微镜光学切片的方法。探讨肝癌细胞纤维肌动蛋白（F-actin)的空间结构。方法：采用共聚焦激光扫描显微镜光学切片技术结合异硫酸氢荧光素-鬼笔环肽（FTTC-phalloidin)标记纤维肌动蛋白和碘化丙啶（PI）标记细胞核的荧光探针双重标记技术对肝癌细胞纤维肌动蛋白进行形态学观察和图像分析。结果：肝癌细胞内纤维肌动蛋白微丝形成束状纤维。粗壮而密集,平行排列或纵横交错成网状贯穿整个细胞和细胞突起。结论：（1）共聚焦激光扫描显微镜的光学切片技术结合FTTC-phalloidin和PI荧光探针双重标记技术是观察和分析细胞骨架系统三维立体结构的良好方法;（2）肝癌细胞内纤维肌动蛋白微丝粗壮、形成束状或网状结构。     

94例缺铁性贫血患者的病因分析

目的 :通过对确诊为缺铁性贫血的病例进行病因学分析 ,探讨多病变和恶性肿瘤在缺铁性贫血发病中的重要性。方法 :确诊为缺铁性贫血 (IDA)的患者 94例 ,行大便虫卵检查 ,胃镜、结肠镜或钡餐、钡灌肠 ,腹腔B超 ,女性加做妇科检查及盆腔B超检查 ,找出IDA病因。将 94例患者按病因分类分为单一病因组和多病变组 ,用t检验对两组的Hb、SF值进行比较 ;再分为良性病变组和恶性肿瘤组 ,两组间的Hb、SF值也以t检验进行比较。结果 :94例IDA患者的病因中 ,由单一病因致病者 75 .5 % ,以消化性溃疡 (2 7.7% )和慢性胃炎 (17.0 % )为主 ,月经失血过多(2 0 .2 % )仍是女性患者的主要病因 ;多病变致病者 2 4.5 %。良性病变占 86 .2 % ,消化道恶性肿瘤占 13.8%。各组间Hb值均无显著差别 (P >0 .0 5 ) ,但恶性肿瘤组SF值明显高于良性病变组 (P <0 .0 1)。结论 :良性消化道出血性病变仍是导致IDA的主要原因 ,其次为女性月经过多。但多病变导致缺铁 ,尤其是上下消化道多个失血灶同时存在者 (14.9% )也不少见。恶性肿瘤在IDA病因中有增多趋势。恶性肿瘤致IDA的患者SF较高。     

东菱克栓酶治疗急性脑梗塞近期疗效评价

应用东菱克栓酶治疗发病在24小时内的30例急性脑梗塞(AEC)患者,并设对照组28例,对其用药前神经功能缺损积分统计学处理,两组无显著差异,P>0.05,治疗后30天神经功能缺损积分值减少程度两组比较差异显著,P<0.01,结果表明东菱克栓酶治疗急性脑梗塞的早期治愈率较高。