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121.
We report a fetus with hydrops, congenital heart disease and bilateral radioulnar synostosis caused by a novel pathogenic MECOM variant. The female fetus was referred for post-mortem examination after fetal hydrops and intrauterine death was diagnosed at 20 weeks gestation. Post-mortem examination confirmed fetal hydrops, pallor, truncus arteriosus and bilateral radioulnar synostosis. Trio whole genome sequencing analysis detected a novel de novo heterozygous pathogenic loss-of-function variant in MECOM (NM_004991), associated with a diagnosis of Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2 (RUSAT-2). RUSAT-2 is a variable condition associated postnatally with bone marrow failure, radioulnar synostosis and congenital anomalies. RUSAT-2 is not currently associated with a prenatal phenotype or fetal demise, and was not present on diagnostic NHS prenatal gene panels at time of diagnosis. This case highlights the diagnostic value of detailed phenotyping with post-mortem examination, and of using a broad sequencing approach.  相似文献   
122.
The environment is profoundly important in shaping many aspects of animal phenotype, including courtship and mating behaviours. Courtship displays rely upon the transmission of visual information from the signaller to the receiver, which means they are likely to be less effective in visually poor conditions such as at low light or in turbid ecosystems. One might therefore predict that in visually poor environments it would be beneficial for individuals to plastically adjust their mating behaviour to maximise mating success. Here, we investigate the impact of the developmental and current visual environment (light intensity) upon male mating behaviour in the Trinidadian guppy Poecilia reticulata. Male guppies have two different mating tactics: They can court females with a visual sigmoid display or attempt to circumvent female choice by attempting a non-consensual copulation (gonapodium thrust). We reared juvenile guppies in low light and relatively high light intensities for 5 months before observing individual males for mating behaviour in both light conditions. We found that the current light environment is important in determining the frequency of both sigmoidal courtship displays and non-consensual copulation attempts. Males increase the frequency of sigmoidal displays at relatively high light and increase non-consensual mating attempts at low light, suggesting that males compensate for poor visual conditions via an adjustment in tactics. We also find a significant correlation in courtship effort between the different light environments, suggesting that there is individual consistency across time and context for this trait. Developmental environment was less important. However, we found that fish reared at lower light intensities continued to employ sigmoidal displays despite the poor current visual environment. Our data show that male mating behaviour is phenotypically plastic in response to recent light environment. This may have implications for understanding how animals cope with anthropogenic environmental change.  相似文献   
123.
Bats alter their echolocation in response to changes in ecological and behavioral conditions, but little is known about how they adjust call structure in response to changes in altitude. We examined altitudinal variation in the echolocation of Brazilian free-tailed bats, Tadarida brasiliensis, a species known to fly to altitudes of 3,000 m above the ground. From 50.2 h of recordings, we analyzed 113 high-quality echolocation call sequences recorded from 0 to 862 m above ground level. Bats flying near the ground used shorter, higher-frequency, broader-bandwidth calls compared to bats at higher altitudes, an effect likely due to the greater levels of echo-producing clutter (i.e., vegetation, buildings) found near the ground. When ground-level recordings are excluded, bats continue to shift towards the use of longer-duration, lower-frequency, narrower-bandwidth calls with increasing altitude. We propose that the observed high-altitude changes in call structure are a response to changing acoustic attenuation rates and/or decreasing insect densities at higher altitudes.  相似文献   
124.
Due to the lack of data on hydraulic-jump dynamics in very large channels, the present paper describes the main characteristics of the velocity field and turbulence in a large rectangular channel with a width of 4 m. Although a hydraulic jump is always treated as a wave that is transversal to the channel wall, in the case of this study it has a trapezoidal front shape, first starting from a point at the sidewalls and then developing downstream in an oblique manner, finally giving rise to a trapezoidal shape. The oblique wave front may be regarded as a lateral shockwave that arises from a perturbation at a certain point of the lateral wall and travels obliquely toward the centreline of the channel. The experimental work was carried out at the Coastal Engineering Laboratory of the Water Engineering and Chemistry Department of the Technical University of Bari (Italy). In addition to the hydraulic jump formation, a large recirculating flow zone starts to develop from the separating point of the lateral shock wave and a separate boundary layer occurs. Intensive measurements of the streamwise and spanwise flow velocity components along one-half width of the channel were taken using a bidimensional Acoustic Doppler Velocimeter (ADV). The water surface elevation was obtained by means of an ultrasonic profiler. Velocity vectors, transversal velocity profiles, turbulence intensities and Reynolds shear stresses were all investigated. The experimental results of the separated boundary layer were compared with numerical predictions and related work presented in literature and showed good agreement. The transversal velocity profiles indicated the presence of adverse pressure gradient zones and the law of the wall appears to govern the region around the separated boundary layer.  相似文献   
125.
Melanin-based ornaments are often involved in signaling aggression and dominance, and their role in sexual selection is increasingly recognized. We investigated the functions of a melanin-based plumage ornament (facial ‘mask’) in male Eurasian penduline tits Remiz pendulinus in the contexts of male–male aggression, mating success, and parental care. The penduline tit is a passerine bird with a unique mating system in which both sexes may mate with several mates in a breeding season, and one (or both) parent deserts the clutch. Our study revealed that mask size of males is more likely an honest signal used by females in their mate choice decisions than a trait involved in male–male competition. First, mask size increased with both age and body condition, indicating that the mask may signal male quality. Second, males with larger masks paired more quickly and had more mates over the breeding season than males with smaller masks. Third, we found no evidence that male mask size signals male–male aggression or dominance during competitive encounters. The increased mating success of large-masked males, however, did not translate into higher reproductive success, as nestling survival decreased with mask size. Therefore, we conclude that there is either no directional selection on male mask size or males with larger masks receive indirect, long-term benefits.  相似文献   
126.
单室MFC型生物毒性传感器对重金属离子的检测研究   总被引:2,自引:0,他引:2  
吴锋  刘志  周奔  周顺桂  饶力群  王跃强 《环境科学》2010,31(7):1596-1600
构建了单室微生物燃料电池(air-cathode microbial fuel cell,ACMFC)型生物毒性传感器,以含重金属离子(Cd2+、Cu2+)人工配水为检测对象,分析了有毒物质对检测仪的抑制率与有毒物质浓度的线性关系.结果表明,①单室MFC型生物毒性传感器结构简单,操作方便,灵敏度较高,可用于水体重金属离子(Cd2+、Cu2+)生物毒性的快速检测;②在实验条件下,该生物毒性传感器检测时间4h,清洗时间2~10min,恢复时间4h;③检测结果显示,实验室自配Cd2+、Cu2+及其混合液IC20值分别为0.6、0.8和0.25mg/L,有毒物质浓度与MFC产电量的抑制率呈显著正相关,相关系数分别为0.9960、0.9744和0.9907.  相似文献   
127.
128.
Brominated flame retardants have been widely used in industry. There is a rapid growing public concern for their availabilities in the environment. Advanced oxidation process (AOP) is a promising and efficient technology which may be used to remove emerging chemicals such as brominated flame retardants. This project aims at investigating optimal operational conditions for the removal of BDE-209 using nano-scaled titanium(IV) oxide. The residual PBDE congeners after photocatalytical degradation of BDE-209 by TiO2 were analysed by gas chromatography-mass spectrometry (GC-MS). It was found that the degradability of BDE-209 by TiO2 was attributed to its photocatalytic activity but not the small size of the particles. The half-life of removing BDE-209 by TiO2 was 3.05 days under visible light. Tetra- and penta-BDEs were the major degraded products of BDE-209. Optimum conditions for photocatalytical degradation of BDE-209 was found to be at pH 12 (93% ± 1%), 5, 10, 20 mg/L (93.0% ± 1.70%, 91.6% ± 3.21%, 91.9% ± 0.952%, respectively), respectively of humic acid and in the form of anatase/rutile TiO2 (82% ± 3%). Hence, the efficiency of removing BDE-209 can be maximized while being cost effective at the said operating conditions.  相似文献   
129.
马奔  章群  司从利  黄小彧 《生态环境》2011,20(12):1898-1901
测定了采自香港2株球形棕囊藻和湛江1株等鞭金藻质体16SrDNA基因序列,结合GenBank中下载的32条同源序列,分析序列特征并构建分子系统树。发现600bp序列中有可变位点42个,简约信息位点33个,可变位点和简约信息位点分别为全序列的7.0%和5.5%。A+T的含量(52.5%)略大于C+G含量(47.5%),与已报道的棕囊藻属叶绿体和线粒体基因相似;在分子系统树上,同属藻种聚类在一起,属间遗传距离分别为0.0255-0.0503。棕囊藻属属内遗传距离0-0.0050,不同藻种相混杂,并未独立成支;质体16srDNA部分序列虽不能区分棕囊藻属内不同藻种,但能鉴定出GenBank中27个环境样品为棕囊藻属藻株,从而能确定其地理分布和相对丰度,对棕囊藻赤潮的预测预报具有重要意义。质体16srDNA在其他赤潮藻类物种鉴定方面的应用需要进一步研究。  相似文献   
130.
为考虑地震动特性对隔震连续梁桥顺桥向主梁与桥台碰撞响应的影响,以某三跨混凝土隔震连续梁桥为例,基于ABAQUS建立了考虑混凝土材料损伤及三维接触碰撞的有限元模型。采用12条典型地震动输入,分析了不考虑碰撞时地震动峰值加速度与峰值速度的比值(PGA/PGV)对主梁顺桥向最大位移的影响;并进一步分析了考虑碰撞效应时PGA/PGV对主梁碰撞响应的影响;在此基础上,以一条典型地震动为例,分析了地震动峰值加速度对碰撞响应的影响。结果表明,当不考虑碰撞效应时,主梁顺桥向最大位移随着PGA/PGV的增大而呈现减小趋势;考虑碰撞时,碰撞次数和最大碰撞力的变化具有一定的相似性,但随PGA/PGV的变化并不明显。随着伸缩缝间隙的不同,最大碰撞力随着峰值加速度的增加既可能表现出线性增加的特征,也可能表现出较大波动。  相似文献   
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