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We describe the first prenatally detected case of a small de novo interstitial duplication of chromosome 16q. This chromosomal aberration is extremely rare. Amniocentesis was indicated by advanced maternal age only. Ultrasound examinations of the foetus showed no abnormalities. Conventional and molecular cytogenetic analyses on cultured amniocytes by comparative genomic hybridisation (CGH) and fluorescence in situ hybridisation (FISH) using partial chromosome paints and a locus-specific YAC clone revealed a de novo direct duplication of the chromosomal region 16q11.2-q13 leading to a partial trisomy 16q (46,XX,dup(16)(q11.2q13)). There are only five postnatal reports of comparable duplications involving this chromosomal region. These patients presented with little or no associated dysmorphic features but with significant neurodevelopmental delay and severe behavioural problems. After genetic counselling, the parents opted for termination of pregnancy. Post-mortem examination showed slight facial dysmorphic signs, minor dysgenesis of the ovaries and an atypical outflow of the arteria thyroidea ima. Copyright © 2006 John Wiley & Sons, Ltd.  相似文献   
3.
Background, Aims and Scope Sediments of the Spittelwasser creek are highly polluted with organic compounds and heavy metals due to the discharge of untreated waste waters from the industrial region of Bitterfeld-Wolfen, Germany over the course of more than one century. However, relatively few data have been published about the chloroorganic contamination of the sediment. This paper reports on the content of different (chloro)organic compounds with special emphasis on polychlorinated dibenzo-p-dioxins and dibenzofurans (PCDD/F), and chlorobenzenes. Existing concepts for the remediation of Spittelwasser sediment include the investigation of natural attenuation processes, which largely depend on the presence of an intact microbial food web. In order to gain more insight in terms of biological activity, we analyzed the capacity of sediment microflora to degrade organic matter by measuring the activities of extracellular hydrolytic enzymes involved in the biogeochemical cycling of carbon, nitrogen, phosphorus and sulfur. Furthermore, the detection of physiologically active bacteria in the sediment, particularly of those known for their capability to reductively dehalogenate organochlorine compounds, illustrates the potential for intrinsic bioremediation processes. Methods PCDD/F and chlorobenzenes were analyzed by gas chromatography(GC)/mass spectrometry and GC/flame ionization detection, respectively. The activities of hydrolytic enzymes were determined from freshly sampled sediment layers using 4-methylumbelliferyl (MUF) or 7-amino-4-methylcoumarin-conjugated model compounds and kinetic fluorescence measurements. Physiologically active bacteria from different sediment layers were microscopically visualized by fluorescence in situ hybridization (FISH). Specific bacteria were identified by 16S rRNA gene amplification and sequencing. Results and Discussion The PCDD/F congener profile was dominated by dibenzofurans. In addition, the presence of specific tetra and pentachlorinated dibenzofurans supported the assumption that extensive magnesium production was one possible source for the high contamination. A range of other chloroorganic compounds, including several isomers of chlorobenzenes, hexachlorocyclohexane and 1,1,1-trichloro-2,2-bis (p-chloro-phenyl)ethane (DDT), was present in the sediment. Activities of extracellular hydrolytic enzymes showed a strong decrease in those sediment layers that were characterized by high contents of absorbable organic halogen (AOX), indicating disturbed organic matter decay. Interestingly, an abnormal increase of cellulolytic enzyme activities below the organochlorine-rich layers was observed, possibly caused by residual cellulose from discharges of sulfite pulping wastes. FISH revealed physiologically active bacteria in most sediment layers from the surface down to the depth of about 60 cm, including members of Desulfitobacterium (D.) and Sulfurospirillum. The presence of D. dehalogenans was confirmed by its partial 16S rRNA gene sequence. Conclusions Results of chemical sediment analyses demonstrated high loads of organochlorine compounds, particularly of PCDD/F. Several years after stopping the waste water discharge to Spittelwasser creek, this sediment remains a main source for pollution of the downstream river system by way of the ongoing mobilization of sediment during high floods. As indicated by our enzyme activity measurements, the decomposition potential for organic matter is low in organochlorine-rich sediment layers. In contrast, the comparably higher enzyme activities in less organochlorine-polluted sediment layers as well as the presence of physiologically active bacteria suggest a considerable potential for natural attenuation. Recommendations and Perspectives From our data we strongly recommend to explore the degradative capacity of sediment microorganisms and the limits for in situ activity towards specific sediment pollutants in more detail. This will give a sound basis for the integration of bioremediation approaches into general concepts to reduce the risk that permanently radiates from this highly contaminated sediment. Submission Editor: Dr. Henner Hollert (Henner.Hollert@urz.uniheidelberg.de)  相似文献   
4.
乡村振兴视域下农村土地利用利益相关者分析   总被引:4,自引:2,他引:2  
乡村振兴的实施使得农村土地利用与管理面临更多的挑战。应用利益相关者分析、博弈均衡分析和实证案例分析,探讨乡村振兴视域下土地利用各利益相关者的关系演变。研究结果显示:(1)1949年至今,农村地区土地利用利益相关者主体数量增加,博弈关系呈现复杂化、多样化和多向化;(2)乡村振兴时期主要有六种博弈关系,并探讨了案例村实施下山脱贫、发展乡村旅游、新型经营主体进驻、城市居民促进农村发展四种博弈决策过程;(3)乡村振兴视域下,农村地区发展应关注基础设施配套、土地利用效率与生态环境协调、农户生计可持续性等问题。乡村振兴中应注重实现土地利用各利益相关者的最优均衡,降低各方风险,保护生态环境并寻求多方利益平衡。  相似文献   
5.
研制了一种测定水中Mg2 + 的测试管 ,测定范围为 0 .5mg/L~ 2 .0mg/L。该测试管适用于现场应急监测 ,具有快速、简便、抗干扰能力强和价格低廉等特点  相似文献   
6.
海河下游水体中DO与NH_3-N、COD_(Mn)相关关系探讨   总被引:2,自引:0,他引:2  
本文应用近年来海河下游监测数据对DO与NH3N和CODMn进行一元线性回归,得到两回归方程:NH3N=-128DO+1054;CODMn=-113DO+1692。并经相关系数和回归系数显著性检验,表明在999%的置信水平下DO与NH3N和CODMn线性相关均极其显著  相似文献   
7.
The effect of altitude and water temperature on biomonitoring of freshwater quality was examined along an unpolluted area (36 km in length) of the upper Río Tajo (central Spain). The macrobenthic and fish communities were studied, and the Biological Monitoring Water Quality (BMWQ) method was applied. As expected, values of altitude and temperature respectively decreased and increased with increasing distance from the river source; these two physical parameters exhibited a negative and significant (P<0.05) correlation coefficient between them. However, despite evident changes in the functional structure of both aquatic communities along the study area, BMWQ scores were similar at all sampling sites. Pearson correlation coefficients between physical and biological parameters were not significant (P>0.05). The BMWQ index only exhibited significant (positive) correlation coefficients with macrobenthic and fish biomasses, indicating that freshwater quality could affect the biological production of fluvial ecosystems. It is concluded that biomonitoring of freshwater quality may be independent of the influence of altitude and water temperature at local spatial scales. Nonetheless, further investigations would be needed to clearly differentiate between the effects of anthropogenic and natural causes on biological monitoring at larger spatial scales.  相似文献   
8.
The province of Huelva in the SW of Spain presents high environmental contrasts: together with the great abundance of natural spaces, it shows the impacts of historical natural resources exploitation processes. In the Ria of Huelva, the effluents of the chemical industries must be added to the contaminating inputs of the Tinto and Odiel rivers, coming from the acid drainage of the mines located in the Iberian Pyrite Belt. This forced the Environmental Agency (AMA) to elaborate in 1987 an Effluent Remediation Plan in order to negate unacceptable environmental impacts. The application of a grey box systemic analysis to the AMD pollution, undergone by the Tinto and Odiel rivers has allowed to set a conclusive explanation of the sampling results observed for a period of 11 years, thus making available an overall view of the polluting process and, above all, an explanation of its partial aspects.  相似文献   
9.
An approach was developed to identify surface soils affected by historical dredged sediment disposal in the alluvial plains of the Upper Scheldt, the Sea Scheldt and the Leie river. Dredged sediment-derived soils were identified based on field observations, comparative granulometric analyses and chemical analyses. Criteria developed were based on a comparison between reference data from 102 aerobic soil samples of areas known to be affected by dredged sediment disposal and 104 samples from undisturbed alluvial soils along the studied rivers. A comparative grain size analysis with optical laser diffractometry between the A and C horizon proved useful for the identification of levelled-up sites. The chemical soil characteristics that were most useful in identifying dredged sediment-derived soils were CaCO3, sulfur (S), organic carbon (OC) and phosphorus (P) contents, electrical conductivity (EC), and the C/P and C/S ratios. Criteria for concluding the origin of an investigated soil were specific for the studied area, but the approach presented may provide useful guidelines for developing criteria valid for different regions.  相似文献   
10.
萃取-催化氧化光度法测定生物体中H2O2含量研究   总被引:5,自引:0,他引:5  
提出萃取-催化氧化光度法测定生物体中H2O2含量的新方法.用稀土催化H2O2产生羟基自由基以氧化二苯基碳酰二肼,生成红色二苯基碳酰腙,其最大吸收波长为563.0nm;当二苯基碳酰二肼浓度一定时,△A563与H2O2含量呈量效关系.在0~30μmol/L H2O2 含量范围内,该法能简单、快速、精确地测定生物样品中H2O2实际含量.  相似文献   
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