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1.
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   
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Summary The predator,Rhizophagus grandis, is linked to its specific prey,Dendroctonus micans, by semiochemical signals regulating oviposition and long range orientation. A mixture of simple oxygenated monoterpenes [(–)—fenchone, (–)—pinocamphone, rac. camphor, terpinene-4-ol, borneol, fenchol and verbenone], identified from the frass ofD. micans has been found to be extremely active in a flight windtunnel as a long—range attractant for the predator. The mixture elicited 84 % of the response to larval frass of the prey. Excluding pinocamphone from the mixture did not influence its activity. Also, changing the absolute configurations of some of the components (fenchol, terpinene-4-ol and borneol) did not influence the predators' response. However, the addition of (–)—-terpineol increased the attractivity of the synthetic blend to almost that of larval frass of the prey. Ecological implications of the identified semiochemicals and their use in pest management are discussed.  相似文献   
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The 57-MW high-flux reactor of the Institute Max von Laue-Paul Langevin at Grenoble serves as a central neutron-beam facility for laboratories and research institutes in the three member countries, the United Kingdom, France, and the Federal Republic of Germany. The heavy-water-moderated and -cooled reactor is equipped with hot, thermal, and cold moderators, providing neutrons with high intensity over an unusual wide range of energies (wavelengths) extending from some 0.1 meV (30 Å) up to some 500 meV (0.4 Å). An extensive system of neutron guides with different curvatures permits the transport of neutrons over distances ranging up to 140 m with minimal intensity losses for neutrons in the useful wavelength band. The transmitted beams, in addition, exhibit very low background contamination by fast and epithermal neutrons, and γ-radiation. A large variety of high-resolution neutron spectrometers provide unique opportunities in fields such as nuclear physics, crystallography, solid-state physics, chemistry, metallurgy, and biology.  相似文献   
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The COVID-19 pandemic has exposed an interconnected and tightly coupled globalized world in rapid change. This article sets the scientific stage for understanding and responding to such change for global sustainability and resilient societies. We provide a systemic overview of the current situation where people and nature are dynamically intertwined and embedded in the biosphere, placing shocks and extreme events as part of this dynamic; humanity has become the major force in shaping the future of the Earth system as a whole; and the scale and pace of the human dimension have caused climate change, rapid loss of biodiversity, growing inequalities, and loss of resilience to deal with uncertainty and surprise. Taken together, human actions are challenging the biosphere foundation for a prosperous development of civilizations. The Anthropocene reality—of rising system-wide turbulence—calls for transformative change towards sustainable futures. Emerging technologies, social innovations, broader shifts in cultural repertoires, as well as a diverse portfolio of active stewardship of human actions in support of a resilient biosphere are highlighted as essential parts of such transformations.  相似文献   
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Background, aim and scope  The use of sodium hypochlorite (HYP) in viticulture results in effluents which are contaminated with halogenated substances. These disinfection by-products (DBPs) can be quantified as group parameter ‘adsorbable organic halogens’ (AOX) and have not been determined in effluents of viticulture yet. The substances that are detected as AOX are unknown. The AOX can be composed of harmless substances, but even toxic contaminants. Thus, it is impossible to assess ecological impacts. The aim of this study is to determine the quantification of AOX and DBPs after the use of HYP. This will be helpful to reduce environmental pollution by AOX. Materials and methods  The potential of HYP to generate AOX was determined in laboratory-scale experiments. Different model solutions were treated with HYP according to disinfection processes in viticulture and conditions of AOX formation in effluents were simulated. AOX were quantified using the flask-shaking method and identified DBPs were investigated by gas chromatography–mass spectrometry. Results  Treatment with HYP resulted in the formation of AOX. The percentage conversion of HYP to AOX was up to 11%. Most important identified DBPs in viticulture are chloroform, dichloroacetic acid and trichloroacetaldehyde. In addition, the formation of carbon tetrachloride (CT), 1,1,1-trichloropropanone, 2,4-dichlorobenzoic acid and 2-chloro-/2,4-dichlorophenylacetic acid was investigated. It was demonstrated that reaction temperature, concentration of HYP and type of organic matter have important influence on the formation of chlorinated DBPs. Discussion  The percentage conversion of HYP to AOX was similar to other published studies. Although a correlation of single compounds and AOX is difficult, chloroform was the predominant AOX. Generation of the volatile chloroform should be avoided due to possible adverse effects. The generation of dichloroacetic acid is of minor importance on account of biodegradation. Trichloroacetaldehyde and 1,1,1-trichloropropanone are weak mutagens and their formation should be avoided. Conclusions  The generation of AOX and chlorinated DBPs can be minimised by reducing the concentrations of the organic materials in the effluents. The removal of organic matter before disinfection results in a decreased formation of AOX. HYP is an effective disinfectant; therefore, it should be used at low temperatures and concentrations to reduce the amount of AOX. If possible, disinfection should be accomplished by the use of no chlorine-containing agents. By this means, negative influences of HYP on the quality of wine can also be avoided. Recommendations and perspectives  Our results indicate that HYP has a high potential to form AOX in effluents of viticulture. The predominant by-products are chloroform, dichloroacetic acid and trichloroacetaldehyde. In further research, wastewaters from a winery and the in- and outflows of two sewage treatment plants were sampled during vintage and analysed. These results will be discussed in a following paper.  相似文献   
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