Dichorionic twin pregnancy with sirenomelia and chromosomal anomaly in 1 fetus: A case report

Rationale:Sirenomelia is a rare congenital malformation that threatens fetal survivals. The cases in which twin with sirenomelia and chromosomal abnormality have been seldomly reported. We reported a dichorionic twin case in which one twin had sirenomelia, the other twin had a normal phenotype, and they had different chromosomal abnormalities.Patient concerns:The abnormal twin was found at 22 weeks by ultrasound. The sirenomelia fetus was complicated with a thoracic stenosis, enlarged rectum without anal opening, the absence of bilateral kidneys, a single umbilical artery, a single lower limb, the abnormal curvature of spine, double outlet of right ventricle, which were the indicatives of the chromosome detection.Diagnosis:The copy number variation of the sirenomelia fetus was detected as a deletion of 4.8Mb in 11p11.12-11q11. The co-twin was found with del(Y)(q11.223q11.23), which was as the same as his father''s. The mother had normal chromosome. The parents had normal phenotypes. It was firstly reported a microdeletion with sirenomelia fetus.Interventions:There was no specific treatments for the twins.Outcomes:Intrauterine death of the sirenomelia fetus was found at 27 weeks and postnatal death after inevitable abortion happened to the co-twin.Lessons:Prenatal ultrasound was responsible for recognizing sirenomelia, and the detailed ultrasound scanning and chromosome detection should be done for the co-twin. The etiology of sirenomelia remains unclear, and genetic detection is also necessary for its pathogenesis research.     

Frequent loss of heterozygosity in two distinct regions,8p23.1 and 8p22, in hepatocellular carcinoma

AIM: To identify the precise location of putative tumor suppressor genes (TSGs) on the short arm of chromo- some 8 in patients with hepatocellular carcinoma (HCC). METHODS: We used 16 microsatellite markers informative in Japanese patients, which were selected from 61 pub- lished markers, on 8p, to analyze the frequency of loss of heterozygosity (LOH) in each region in 33 cases (56 lesions) of HCC. RESULTS: The frequency of LOH at 8p23.2-21 with at least one marker was 63% (20/32) in the informative cases. More specifically, the frequency of LOH at 8p23.2, 8p23.1, 8p22, and 8p21 was 6%, 52%, 47%, and 13% in HCC cases. The LOH was significantly more frequent at 8p23.1 and 8p22 than the average (52% vs 22%, P = 0.0008; and 47% vs 22%, P = 0.004, respectively) or others sites, such as 8p23.2 (52% vs 6%, P = 0.003; 47% vs 22%, P = 0.004) and 8p21 (52% vs 13%, P = 0.001; 47% vs 13%, P = 0.005) in liver cancer on the basis of cases. Notably, LOH frequency was significantly higher at D8S277, D8S503, D8S1130, D8S552, D8S254 and D8S258 than at the other sites. However, no allelic loss was detected at any marker on 8p in the lesions of nontumor liver tissues. CONCLUSION: Deletion of 8p, especially the loss of 8p23.1-22, is an important event in the initiation or promotion of HCC. Our results should be useful in identi- fying critical genes that might lie at 8p23.1-22.     

多巴酚丁胺负荷超声心动图检测病变冠状动脉的临床研究

目的：通过观察多巴酚丁胺负荷超声心动图( DSE)诱发的节段性室壁运动异常( RWMA),从而分析和判定病变的冠状动脉,为临床选择治疗方案和评价预后提供依据。方法对临床疑诊冠心病( CAD )的78例患者均行冠状动脉造影( CAG)和DSE检查,并比较 DSE 与 CAG 检查结果,判定其检测的临床价值。结果 DSE 检测单支病变的敏感性为78.05%,符合率为60.98%。 DSE检测双支病变的敏感性为81.81%,检测三支病变的敏感性为100%;DSE检测多支病变的符合率为35.29%。 DSE检测左前降支( LAD)、左回旋支( LCX)和右冠脉( RCA)病变的敏感性分别为65.8%,26.1%和66.7%(P<0.01);特异性和准确性差异无显著性(P>0.05)。检测出RCA和LAD病变的敏感性高于LCX(P<0.01)。 DSE试验峰值负荷时CAD组和正常对照组WMSI比较差异有显著性(P<0.01),而DSE峰值负荷时单支和多支病变组RWMA比较差异无显著性(P=0.147)。结论 DSE检测CAD患者的RWMA有较高的敏感性和特异性,可无创估测病变冠状动脉,对RCA、LAD的敏感性高于LCX,对临床进行CAG的筛选具有重要意义。半定量的WMS和WMSI值的高低能说明左心室收缩功能的好坏,但并不能区分是单支病变还是多支病变。     

Protecting effect of caffeine against vinblastine (an anticancer drug) induced genotoxicity in mice

Vinblastine a DNA non-intercalating agent has wide application against several human neoplasms, and found to cause cytogenotoxicity. In this study, clastogenotoxicity of vinblastine (1.5?mg/kg b w) and its prevention by caffeine at different doses (25, 50 and 100?mg/kg b w) administered intraperitoneally was assessed in in vivo mice. It was found that micronucleus level had decreased significantly (up to 28.8%) in 100?mg caffeine treated group at 30?h post treatment. However, it did not exhibit protective effect against chromosomal aberration in spaermatogonial cells at 24?h post treatment. The frequencies of aberrant primary spermatocytes had decreased significantly in 25 and 100?mg caffeine at 4th week of post treatment. Similarly, in 100?mg of caffeine administered, abnormal sperm level had reduced (4.01%) significantly at 8th week post treatment. Thus, caffeine decreased the vinblastine induced chromosomal aberrations and mitotic index in bone marrow cells. In conclusion, this study shows that caffeine exerts protective effect against vinblastin induced cytogenotoxicity. Further studies on molecular mechanism are interesting in order to develop it as an effective drug in cancer chemotherapy.     

Aluminium oxide nanoparticles induced morphological changes,cytotoxicity and oxidative stress in Chinook salmon (CHSE‐214) cells

Aluminium oxide nanoparticles (Al₂O₃ NPs) are increasingly used in diverse applications that has raised concern about their safety. Recent studies suggested that Al₂O₃ NPs induced oxidative stress may be the cause of toxicity in algae, Ceriodaphnia dubia, Caenorhabditis elegans and Danio rerio. However, there is paucity on the toxicity of Al₂O₃ NPs on fish cell lines. The current study was aimed to investigate Al₂O₃ NPs induced cytotoxicity, oxidative stress and morphological abnormality of Chinnok salmon cells (CHSE‐214). A dose‐dependent decline in cell viability was observed in CHSE‐214 cells exposed to Al₂O₃ NPs. Oxidative stress induced by Al₂O₃ NPs in CHSE‐214 cells has resulted in the significant reduction of superoxide dismutase, catalase and glutathione in a dose‐dependent manner. However, a significant increase in glutathione sulfo‐transferase and lipid peroxidation was observed in CHSE‐214 cells exposed to Al₂O₃ NPs in a dose‐dependent manner. Significant morphological changes in CHSE‐214 cells were observed when exposed to Al₂O₃ NPs at 6, 12 and 24 h. The cells started to detach and appear spherical at 6 h followed by loss of cellular contents resulting in the shrinking of the cells. At 24 h, the cells started to disintegrate and resulted in cell death. Our data demonstrate that Al₂O₃ NPs induce cytotoxicity and oxidative stress in a dose‐dependent manner in CHSE‐214 cells. Thus, our current work may serve as a base‐line study for future evaluation of toxicity studies using CHSE‐214 cells. Copyright © 2015 John Wiley & Sons, Ltd.     

一个原发性痛风家系致病易感基因染色体定位

目的 对一原发性痛风家系进行致病基因的染色体定位。方法 收集痛风家系成员的临床资料及血液样本。选择其中一典型家系为研究对象（包括6例患者，9例正常人），抽提外周血基因组DNA，进行全基因组扫描和连锁分析，初步明确致病基因所在的染色体区段。结果 在微卫星引物D4S1572处获得最大LOD值（θ=0．00时LOD=1．50），表明该痛风家系的致病基因与该位点连锁。结论 由于D4S1572位于4q25，因此该家系致病基因位于4q25附近。     

染色体核型及血清碱性磷酸酶水平在慢性粒细胞白血病病情预测中作用

目的 研究慢性粒细胞白血病(CML)患者骨髓单个核细胞染色体核型与血清碱性磷酸酶(ALP)水平间变化关系,探讨细胞遗传学变化及ALP水平在患者病情及预后判断中的价值.方法 选择不同时期CML患者,检测其血清ALP,并取骨髓有核细胞采用直接法或24小时培养法、R带显色技术作染色体分析.结果 CML患者ALP水平高于正常对照组,加速期急变期患者复杂核型出现率及血清ALP水平显著高于慢性期患者,且ALP水平与髓内幼稚细胞数水平呈正相关,PH1阳性核型CML患者与复杂核型CML患者血清ALP水平差别不明显.结论 CML患者血清ALP水平及染色体复杂核型反应该期患者疾病特征,对CML疾病分期、预后判断有价值,两者间的一致性有待进一步研究.     

RecQ helicase acts before RuvABC,RecG and XerC proteins during recombination in recBCD sbcBC mutants of Escherichia coli

The RecQ helicase is required by the RecF recombination pathway that is operative in recBC(D) sbcB sbcC(D) mutants of Escherichia coli. Genetic data suggest that RecQ participates in resection of DNA ends during initiation of recombination. In vitro, RecQ can unwind a variety of DNA substrates, including recombination intermediates such as D-loops and Holliday junctions. However, its potential role in processing of recombination intermediates during the late stage of the RecF pathway has not been genetically tested. Here we studied the effect of a recQ mutation on transductional recombination and DNA repair after γ-irradiation in ΔrecBCD ΔsbcB sbcC strains deficient for RuvABC, RecG and XerC proteins. RuvABC and RecG proteins process recombination intermediates in the late stage of recombination, whereas XerC is required to resolve chromosome dimers formed upon recombination. Our results do not reveal any substantial synergistic effect between the recQ mutation, on one hand, and ruvABC, recG and xerC mutations on the other. In addition, the recQ mutation suppresses chromosome segregation defects in γ-irradiated ruvABC recG and xerC mutants. These results suggest that RecQ acts upstream of RuvABC, RecG and XerC proteins, a finding that is compatible with its primary role in initiation of the RecF recombination pathway.     

MLPA技术在检测胎儿非整倍体异常中的应用

目的探讨多重探针连接依赖式扩增（multiplex ligation—dependent probe amplification,MLPA）在快速检测胎儿染色体非整倍体异常中的应用价值。方法344例产前诊断标本同时进行MLPA检测及核型分析,所有样本进行MLPA获得的扩增产物信息经Coffalyserv9．4软件（Holland—MRC公司）进行定量分析,观察样本DNA拷贝数的变化,并将所得结果与染色体核型分析结果进行比较,计算其检测的敏感度、特异度及阳性预测值。结果MLPA分析在标本接收后24h内即可得出结果,共检出染色体倍体异常产前诊断标本5例,包括唐氏综合征（Downsyndrome,47,＋21）6例、爱德华氏综合征（Edwardssyndrome,47,＋18）l例。MLPA检测24h报告结果临床符合率为97．7％。结论MLPA检测21、18、13、X、Y等染色体非整倍体疾病时,与核型分析相比较,MLPA是一种快速、高效的分析非整倍体的产前诊断的方法,具有临床应用价值。