Psychological consequences of prenatal diagnosis in a case of familial Angelman Syndrome

Angelman Syndrome (AS), characterized by mental retardation, absence of speech, seizures and motor dysfunction, is caused by genetic defects leading to loss of expression of the maternal copy of the chromosome 15q11–13 imprinted region. Most cases are sporadic, being caused by de novo deletion of maternal chromosome 15q11–13 (75%) or by paternal uniparental disomy (3–4%). Familial cases can occur, due to mutations in the UBE3A gene or in the imprinting center. We describe the case of a pregnant woman having two nephews with AS caused by a UBE3A mutation; lack of communication within the family led the woman to be completely unaware of the risk of disease recurrence until 15 weeks of gestation. UBE3A genetic testing revealed she carried the familial mutation 892–893delCT. Prenatal diagnosis was performed on amniotic fluid and demonstrated that the fetus had inherited the mutation. The unexpected diagnosis and the subsequent termination of the pregnancy caused the woman to undergo acute psychological distress showing relevant psychopathological symptoms. Nevertheless, at 2-year follow-up, adverse consequences were minimized, and the couple was planning a new pregnancy. Factors affecting the psychological outcome of abortion and the role of psychological support in reducing the risk of long-term unfavorable consequences are discussed. Copyright © 2006 John Wiley & Sons, Ltd.     

环丙沙星胁迫猪粪生物转化中抗性基因微生物响应分析

抗性基因（Antibiotic Resistance Genes,ARGs）是一种新兴污染物,持续累积会引发环境健康风险,也可通过水平转移诱导耐药细菌产生,从而危害人类健康与国家生物安全.当前关于ARGs的研究多集中于水、土壤、大气等环境介质,固体废弃物领域ARGs研究尚局限于其丰度变化与影响因素方面,对抗生素-ARGs剂量-效应关系、导致ARGs丰度变化的微生物响应机制仍有待深入研究.基于此,开展了不同浓度水平环丙沙星（Ciprofloxacin,CIP）胁迫下猪粪堆肥试验,环丙沙星添加量分别为25 mg/kg（A25）、50 mg/kg（A50）、100 mg/kg（A100）,同时设置空白对照0 mg/kg（CK）.采用分子生物学手段、网络分析、统计学分析等方法,解析了不同浓度环丙沙星胁迫猪粪好氧堆肥过程中喹诺酮类ARGs丰度变化的微生物响应关系,并重点探讨了潜在宿主菌中致病菌的分布及其与ARGs的相关性.结果表明:①经堆肥处理,CK、A25和A100堆体中喹诺酮类ARGs总丰度均受到不同程度削减,A50堆体中ARGs总丰度未被削减（升高2.73倍）.而高温期除CK外,3个处理组中ARGs丰度均显著降低（P < 0.05）,表明堆肥高温期或是削减ARGs的关键阶段.②狭义梭菌属（Clostridium_sensu_stricto_1）、水微菌属（Aquamicrobium）、乳杆菌属（Lactobacillus）及交替赤杆菌属（Altererythrobacter）既是堆肥环境中优势菌属,也是喹诺酮类ARGs潜在宿主微生物,主要分布在厚壁菌门（Firmicutes）和变形菌门（Proteobacteria）.③丰度较高的致病菌Clostridium_sensu_stricto_1和链球菌（Streptococcus）是喹诺酮类ARGs的潜在宿主菌,且至堆肥腐熟期,仍有部分致病菌均未被完全去除,可见猪粪堆肥过程中存在ARGs向致病菌转移的环境健康风险.研究显示,加强高温期干预调控,是有效阻控ARGs环境污染行为的关键节点,研究可为固废资源化过程中ARGs环境健康风险防控提供参考.      

氨态氮对菲律宾蛤仔毒理机制研究的内参基因筛选

为了准确和系统地分析NH_3-N对菲律宾蛤仔(Ruditapes philippinarum)毒性的分子机制,并对相关基因的转录组学数据进行验证,利用ge Norm和Normfinder这2种软件,以暴露30 d中不同时间点的鳃组织c DNA为模板,从18S r RNA(18S)、beta-actin(Actin)、beta-tubulin(Tubu)、elongation factor 1-alpha(EF1α)、cyclophilin A(Cy PA)、Ubiquitin(Ub)等6个备选管家基因中,筛选可以稳定表达的内参基因,作为转录组学分析的内参基因。以稀释50倍的鳃组织c DNA模板作为检测模板,ge Norm软件分析获得6对备选内参基因的表达稳定性依次为:EF1αCy PAActinTubuUb18S,较优内参为EF1α和Cy PA;Norm Finder软件分析获得6对备选内参基因的表达稳定性为:EF1αActinTubuCy PAUb18S,最优内参基因为EF1α。为了验证上述筛选结果,分别以EF1α和Cy PA作为内参基因研究unigene1的表达趋势,发现以EF1α为内参基因时,unigene1的q RT-PCR的表达趋势与其转录组表达倍数的变化趋势一致。因此确定NH_3-N暴露菲律宾蛤仔后,鳃组织中表达最为稳定的内参基因为EF1α。     

微氧折流反应器中产甲烷菌的分布与群落结构分析

为了研究微氧条件下折流反应器处理生活污水的微生物学机理,针对产甲烷菌的MCR基因采用实时荧光定量PCR和构建克隆文库的方法,对反应器中的关键功能微生物产甲烷菌的分布特点与群落结构变化进行了分析。结果表明,微氧条件下折流反应器的环境条件可以保证产甲烷菌的增长,不同格室的产甲烷菌丰度均要高于接种污泥(1 720 copies/ng),其中经过微氧曝气处理的1#(2 864 copies/ng)和2#(2 282 copies/ng)格室产甲烷菌丰度低于厌氧状态的3#(3 508copies/ng)格室;微氧处理后折流反应器产甲烷菌的群落结构发生了明显的变化,接种污泥的产甲烷菌多属于Methanomicrobiales目的 Methanoregulaceae属(6/9),而保持微氧状态的1#格室中产甲烷菌多隶属于Methanomicrobiales目(6/10)的其他类群,2#格室的产甲烷菌则多隶属于Methanobacteriales目(5/10),保持厌氧状态的3#格室的产甲烷菌主要属于Methanomicrobiales目(3/10)和Methanosarcinales目(3/10);产甲烷菌MCR基因的多样性指数表明微氧曝气的引入降低了活性污泥中产甲烷菌的生物多样性。     

Hazard mitigation or mitigation hazard?

BACKGROUND, AIM AND SCOPE: Transgenic oilseed rape (Brassica napus L.; OSR) is estimated to be environmentally and economically problematic because volunteers and ferals occur frequently and because of its hybridisation potential with several wild and weedy species. A proposed mitigation strategy aims to reduce survival, in particular in conventional OSR crops, by coupling the transgenic target modification with a dwarfing gene to reduce competitive fitness. Our study allowed us to access potential ecological implications of this strategy. MATERIALS AND METHODS: On a large scale (>500 km(2)), we recorded phenological and population parameters of oilseed rape plants for several years in rural and urban areas of Northern Germany (Bremen and surroundings). The characterising parameter were analysed for differences between wild and cultivated plants. RESULTS: In rural areas, occurrences of feral and volunteer OSR together had an average density of 1.19 populations per square kilometre, in contrast to urban areas where we found 1.68 feral populations per square kilometre on average. Throughout the survey, the vegetation cover at the locations with feral OSR ranged from less than 10% to 100%. Our investigations gave clear empirical evidence that feral OSR was, on average, at least 41% smaller than cultivated OSR, independent of phenological state after onset of flowering. DISCUSSION: The findings can be interpreted as phenotypic adaptation of feral OSR plants. Therefore, it must be asked whether dwarfing could be interpreted as an improvement of pre-adaptation to feral environments. In most of the sites where feral plants occurred, germination and establishment were in locations with disturbed vegetation cover, allowing initial growth without competition. Unless feral establishment of genetically modified dwarfed traits are specifically studied, it would not be safe to assume that the mitigation strategy of dwarfing also reduces dispersal in feral environments. CONCLUSIONS AND RECOMMENDATIONS: With respect to OSR, we argue that the proposed mitigation approach could increase escape and persistence of transgene varieties rather than reducing them. We conclude that the development of effective hazard mitigation measures in the risk evaluation of genetically modified organisms requires thorough theoretical and empirical ecological analyses rather than assumptions about abstract fitness categories that apply only in parts of the environment where the plant can occur.     

Role of Acinetobacter sp. in arsenite As(III) oxidation and reducing its mobility in soil

Microbial arsenite oxidation was observed by Acinetobacter sp. XS21, this strain oxidised arsenite As(III) up to 80?mM within 48–72?h of incubation. The present strain XS21 oxidised As(III) at a very high concentration in a shorter interval of time than any of the previous reported microbes. Further, XS21 was applied to the soil to observe its ability in reducing the mobility of As(III), and we found that Acinetobacter sp. XS21 efficiently removed arsenite from soluble-exchangeable fraction and removed 70% of the arsenite as compared to control. This feature makes it a potential candidate for bioremediation. Arsenic-resistant bacteria with strong As(III)-oxidising ability may have potential to improve bioremediation of As(III)-contaminated sites. To understand their basis of resistance and transformation we found the As(III) oxidase gene using degenerate primer and amplified ～550?bp of aioA gene. Amplified aioA gene sequence exhibiting 52% identity in terms of gene and deduced protein sequence to Uncultured bacterium, and Achromobacter sp. arsenite oxidase of larger subunit. Arsenite oxidase, an enzyme, was also observed in this isolate, which may provide a resistance and transforming ability. This bacterium was identified as Acinetobacter sp., by sequencing 16s rRNA gene sequence analysis.     

利用氧化亚氮还原酶基因 (nosZ) 评价人工湿地系统中的反硝化菌

应用人工潜流湿地净化微污染地表水,出水用于补给人工景观河.利用定量PCR测定了湿地植物根际土壤和景观河底泥中16S rDNA和nosZ的丰度,并采用PCR-DGGE技术考察了样品中含nosZ基因的群落结构及其相似性.定量PCR结果表明,潜流湿地及人工景观河16S rDNA、nosZ平均绝对丰度(以DNA计)分别为1.91E+07、1.26E+06和2.68E+07、8.37E+05 copies.ng-1,以干土计时分别为1.45E+11、9.31E+09和5.31E+11、1.45E+10 copies.g-1.景观河底泥中微生物总量和反硝化菌数量要高于湿地根际土壤,但是后者nosZ相对丰度(3.8%～10.1%)则明显高于前者(1.7%～4.1%).根际土壤和底泥样品聚类分析相似度低,根际土壤优势菌种大部分与红杆菌目(Rhodobacearales)、根瘤菌目(Rhizobiales)和伯克氏菌目(Burkholderiales)的细菌相似,而底泥的优势菌种均为不可培养的微生物.     

Start-up of the anammox process from the conventional activated sludge in a hybrid bioreactor

The anaerobic ammonium oxidation (anammox) process was successfully started up from conventional activated sludge using a hybrid bioreactor within 2 months. The average removal efficiencies of ammonia and nitrite were both over 80%, and the maximum total nitrogen removal rate of 1.85 kg N/(m³.day) was obtained on day 362 with the initial sludge concentration of 0.7 g mixed liquor suspended solids (MLSS)/L. Scanning electron microscope (SEM) observation of the granular sludge in the hybrid reactor clearly showed a high degree of compactness and cell sphericity, and the cell size was quite uniform. Transmission electron microscope photos showed that cells were round or oval, the cellular diameter was 0.6--1.0 μupm, and the percentage of the anammoxosome compartment was 51%--85% of the whole cell volume. Fluorescence in situ hybridization analysis (FISH) indicated that anammox bacteria became the dominant population in the community (accounting for more than 51% of total bacteria on day 250). Seven planctomycete 16S rRNA gene sequences were present in the 16S rRNA gene clone library generated from the biomass and affiliated to Candidatus Kuenenia stuttgartiensis and Candidatus Brocadia sp., a new anammox species. In addition, the average effluent suspended solid (MLSS) concentrations of outlets I (above the non-woven carrier) and II (below the non-woven carrier) were 0.0009 and 0.0035 g/L, respectively. This showed that the non-woven carrier could catch the biomass effectively, which increased biomass and improved the nitrogen removal rate in the reactor.     

上市航空公司盈利能力综合评价

自2008年以来,我国航空业一直处于发展低谷,评价航空公司的盈利能力及分析提高盈利能力的对策是一关键问题.许多学者习惯于应用单一的评价方法对航空上市企业进行评价,然而在对同一批航空上市企业进行评价时,不同的方法得出了不同的评价结果.基于此状况,提出一种系统的综合评价方法,并对全国12家典型航空上市企业进行综合评价,克服了以往应用单一方法在评价中的片面性,使评价结果更加全面客观.     

曝气灌溉条件下土壤N2O排放特征及影响因子分析

为了明确曝气灌溉下土壤N₂O排放特征及主要影响因子,实验设置了2个灌水量（70%和90%田间持水量）和2个增氧水平（5,40mg/L）,采用静态箱法和qPCR技术对土壤N₂O通量及土壤关键功能基因进行测定,研究不同灌水量和增氧水平对土壤充水孔隙度、溶解氧、氧化还原电位（Eh）、矿质氮及氨氧化古菌（AOA）、氨氧化细菌（AOB）和反硝化基因（narG和nosZ）的影响.结果表明：培养过程中,各处理N₂O排放通量均呈现先增加后降低的趋势,于灌溉后1d达到峰值;曝气量和灌水量的增加可显著增加土壤N₂O的排放通量和排放峰值.灌溉造成土壤含水量增加的同时,降低了土壤溶解氧和Eh;曝气可提高土壤溶解氧和Eh,改善土壤通气性（P<0.05）,而对土壤充水孔隙度无显著影响.土壤充水孔隙度、Eh、NO₃^--N含量是曝气灌溉下驱动土壤N₂O排放的主要理化因子.曝气显著增加了AOA的基因拷贝数,且N₂O排放与AOA的基因拷贝数呈显著正相关关系（P<0.05）.研究结果为进一步明确曝气灌溉对土壤N₂O排放的影响机制和曝气灌溉模式下农田N₂O排放管理提供支撑.