A rare complex chromosomal rearrangement in an oligospermic male： a case report and review of the Chinese literature

Dear Editor,
Complex chromosome rearrangements （CCRs） are structural aberrations involving at least three chromosomes with three or more chromosomal breakpoints. CCRs are very rare events in the human population. As reviewed by Pellestor et al.,1 less than 255 cases of CCRs involving three or more chromosomes have been reported. In China, approximately 136 cases of CCRs, including 40 males with reproductive problems, have been reported up to the time this review was compiled.     

N,O-羧甲基壳聚糖对小白鼠精子畸形的影响

目的:观察能明显促进禽类等动物的生长发育,改善肉质的新型饲料添加剂N,O-羧甲基壳聚糖对昆明种小白鼠精子畸形的影响,分析其应用在畜牧生产中的安全性。方法:实验于2005-06-22/2005-08-06于南京农业大学动物医学院药理组实验室完成。挑选体质量25～28g的小鼠50只,以随机数字表法分为生理盐水组、环磷酰胺组、N,O-羧甲基壳聚糖(南京龙源天然多酚合成厂提供,商品名为毕罗喜,质量浓度为105g/kg)2,4,8g/kg剂量组,每组10只。N,O-羧甲基壳聚糖2,4,8g/kg剂量组分别给予相应剂量的N,O-羧甲基壳聚糖,溶于1mL生理盐水,2,4g/kg剂量1次灌服,8g/kg剂量分2次灌服,每次间隔约3h;生理盐水组给予生理盐水1mL;环磷酰胺组给予环磷酰胺0.04g/kg,溶于1mL生理盐水。给药前禁食10h,不禁水。连续灌胃5d,给药后30d麻醉下处死,取两侧附睾按Wyrobek方法涂片,观察小白鼠精子畸形状况。评估标准参照农业部兽药评审委员会办公室编写的兽药试验技术规范汇编(2001年)。评估内容参照沈建忠主编的动物毒理学(中国农业出版社,2002年),包括各种畸形的精子形态:不定形、胖头、香蕉头、无钩、双头(多头)和双尾(多尾)等,及其分类计数。每组随机选取5只小鼠,计算总畸形率。精子畸形率(%)=畸形精子总数/检查精子总数×100。结果:最终25只小鼠进入结果分析,每组5只。①环磷酰胺组的精子畸形率远高于生理盐水组和N,O-羧甲基壳聚糖2,4,8g/kg剂量组(6.10%,2.48%,2.46%,2.64%,2.78%,P<0.01);N,O-羧甲基壳聚糖2,4,8g/kg剂量组与生理盐水组比较,差异无显著性意义(P>0.05),且各剂量组之间差异也没有显著性意义(P>0.05)。②各组精子畸形主要表现为头部或尾部异常。以无定形和胖头居多,占35.48%(292/823)和29.28%(241/823);其次是无钩形及香焦形多见,占19.68%(162/823)和13.49%(111/823);偶尔可见双头双尾形,只占2.07%。结论:N,O-羧甲基壳聚糖精子畸形试验结果呈阴性,说明其对雄性生殖细胞没有明显的遗传毒性。     

广州市2～12岁儿童1734名睡眠障碍的流行病学调查

目的:了解广州市东山区2～12岁儿童常见睡眠障碍的发生,分析可能影响儿童睡眠障碍发生的影响因素。方法:于2003-06/09在广州市东山区随机抽取两所小学及两所幼儿园共1734儿童,在严格质量控制的条件下由专人负责对其家长进行儿童家庭社会环境与睡眠健康问卷调查。结果:所调查儿童各种睡眠障碍总的发生率为35.4%,除睡眠憋醒发生率男孩明显高于女孩外(χ2=40.172,P=0.000),其余各种睡眠障碍的发生率男孩与女孩经检验差异均无显著性意义。影响儿童睡眠障碍的主要危险因素包括:性别、年龄、睡眠环境、鼻炎史、父亲吸烟史、父亲学历、父亲打鼾史和母亲打鼾史等八个影响因素。结论:目前广州市东山区2～12岁儿童睡眠障碍发生率较高,其主要影响因素还是以社会家庭环境因素为主,家庭应重视儿童的睡眠问题,以提高儿童的睡眠质量。     

骨髓基质干细胞心肌化诱导过程中转录因子NKx 2.5的表达

目的：研究5-氮杂胞嘧啶(5-azacytidine，5-aza)和二甲亚砜(dimethyl sulfoxide．DMSO)诱导人骨髓基质细胞(human bone marrow stromal cells，hBMSC)心肌分化过程中心肌特异转录因子NKx2.5表达的变化。方法：取传至第8代hM-SC，以3μmol/L的5-aza和DMSO诱导24h。1周后重复诱导1次。在诱导后1、2和3周3个时间点以半定量RT-PCR方法检测细胞心肌特异转录因子NKx2.5的表达变化。结果：hMSC经5-aza诱导后，约1周左右细胞明显变大，2周时细胞走向趋于一致．邻近细胞间连接较前紧密，并形成肌节样结构。RT-PCR的结果显示，5-aza可诱导心肌特异转录因子NKx2.5，并一直持续表达3周。在DMSO诱导hBMSC后1周，开始可检测到细胞发生转录水平变化NKx2.5表达，并均可持续表达至诱导后3周；NKx2.5表达量有随诱导后时间延长而增加的趋势。结论：5-aza和DMSO在体外可诱导心肌特异转录因子NKx2.5的表达，从而启动hMSC心肌化的过程。     

B超联合CT在眼球内异物诊断定位中的应用

目的探讨球内异物超声及口影像定位的临床价值。方法患者分别进行B超和CT检查，诊断异物、定位并与手术结果进行比较。结果55眼中B超显影55例，CT显影53例，根据CT定位与术中发现异物基本符合。结论B超结合CT对诊断和定位眼球内异物是好方法。     

神经科护士疲劳状况的调查分析

[目的]了解神经科护士疲劳状况以及原因和影响因素,找出解决的方法,以预防疲劳的进一步恶化,防止慢性疲劳综合征的发生.[方法]运用疲劳评定量表对常德市4所医院106名神经科护士进行调查,所得结果进行统计学分析.[结果]神经科护士有疲劳者占87.74%.有疲劳的神经科护士较无疲劳者疲劳程度严重,且具有明显的情境特异性.[结论]疲劳在神经科护士中普遍存在,年龄及情境可影响疲劳,充足的睡眠、安静新鲜的环境、一些快乐有意义的活动、良好的心态等可减轻疲劳.     

Systematic Prioritization and Integrative Analysis of Copy Number Variations in Schizophrenia Reveal Key Schizophrenia Susceptibility Genes

Schizophrenia is a common mental disorder with high heritability and strong genetic heterogeneity. Common disease-common variants hypothesis predicts that schizophrenia is attributable in part to common genetic variants. However, recent studies have clearly demonstrated that copy number variations (CNVs) also play pivotal roles in schizophrenia susceptibility and explain a proportion of missing heritability. Though numerous CNVs have been identified, many of the regions affected by CNVs show poor overlapping among different studies, and it is not known whether the genes disrupted by CNVs contribute to the risk of schizophrenia. By using cumulative scoring, we systematically prioritized the genes affected by CNVs in schizophrenia. We identified 8 top genes that are frequently disrupted by CNVs, including NRXN1, CHRNA7, BCL9, CYFIP1, GJA8, NDE1, SNAP29, and GJA5. Integration of genes affected by CNVs with known schizophrenia susceptibility genes (from previous genetic linkage and association studies) reveals that many genes disrupted by CNVs are also associated with schizophrenia. Further protein-protein interaction (PPI) analysis indicates that protein products of genes affected by CNVs frequently interact with known schizophrenia-associated proteins. Finally, systematic integration of CNVs prioritization data with genetic association and PPI data identifies key schizophrenia candidate genes. Our results provide a global overview of genes impacted by CNVs in schizophrenia and reveal a densely interconnected molecular network of de novo CNVs in schizophrenia. Though the prioritized top genes represent promising schizophrenia risk genes, further work with different prioritization methods and independent samples is needed to confirm these findings. Nevertheless, the identified key candidate genes may have important roles in the pathogenesis of schizophrenia, and further functional characterization of these genes may provide pivotal targets for future therapeutics and diagnostics.Key words: schizophrenia, copy number variation, prioritization, integrative analysis, NRXN1, CHRNA7