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401.
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
402.
Bárbara Medeiros Fonseca Luciana de Mendonça-Galvão Claudia Padovesi-Fonseca Lucijane Monteiro de Abreu Adriana Cristina Marinho Fernandes 《Environmental monitoring and assessment》2014,186(1):19-33
The aquatic systems responsible for water supply in the Brazilian Federal District (FD) have been threatened by anthropogenic pressures, especially considering the expressive demographic increase in the region during the last decades. The purposes of this research were: (a) to assess the water quality in streams located in the FD by monitoring physical–chemical variables; (b) to define baselines for these variables among different ecological status categories. The 14 investigated streams were sampled between 2006 and 2009, in the dry (August–September, 2006, 2008, 2009) and rainy (March–April, 2008, 2009) seasons. All sampling sites were classified in four categories (“very impacted”, “impacted”, “in transition” and “natural”) using an adaptation of a rapid habitat assessment protocol. Differences in water quality among sites were generally well predicted in the four ecological status categories defined by the protocol, which showed a gradient in nutrient concentrations from reference sites classified as “natural” (medians: electrical conductivity?=?7.3 μS cm?1; nitrate?=?0.040 mg L?1; ammonium?=?0.039 mg L?1; soluble reactive phosphorus (SRP)?=?<0.001 mg L?1; total phosphorus (TP)?=?0.006 mg L?1; ) to those classified as “very impacted” (medians: electrical conductivity?=?87.7 μS cm?1; nitrate?=?0.247 mg L?1; ammonium?=?0.219 mg L?1; SRP?=?0.010 mg L?1; TP?=?0.035 mg L?1). Point sources inputs were the main factor for water quality deterioration. The nutrient baselines reported were relatively low when compared to data collected from reference areas in Brazil (e.g., São Paulo State) or temperate regions, especially for TP. 相似文献
403.
Gara Luis Carmen Rubio Ángel. J. Gutiérrez Dailos González-Weller Consuelo Revert Arturo Hardisson 《Environmental monitoring and assessment》2014,186(1):433-440
Sweet potatoes are a staple in the diet of some people and an excellent source of minerals. Metal monitoring in food, like sweet potatoes, provides basic information on safety aspects in regulatory processes as well as nutritional values. One hundred five samples of three varieties of sweet potatoes were randomly obtained from supermarkets, farmers markets, and farmers' plots in Tenerife (Canary Islands, Spain). The edible portion (pulp) was the only part considered for analysis. Flame atomic absorption spectrometry was used to determine the contents of sodium (Na), potassium (K), calcium (Ca), magnesium (Mg), copper (Cu), iron (Fe), manganese (Mn), and zinc (Zn), while the levels of chromium (Cr), nickel (Ni), cadmium (Cd), and lead (Pb) were determined using graphite furnace atomic absorption spectrometry. The mean concentrations were 500 Na, 4409 K, 564 Ca, 609 Mg, 1.291 Cu, 6.554 Fe, 2.324 Mn, 2.348 Zn, 0.028 Cr, 0.048 Ni, 0.001 Cd, and 0.003 Pb mg/kg, respectively. Potassium presented the highest contents in all varieties of sweet potatoes. Iron was the most abundant microelement. The orange fleshed sweet potato variety offered greater nutritional contributions to the recommended intakes than the rest of the varieties studied. The estimated mean daily intake of Ni (0.72 mg/day) detected in our samples was highly consistent with other studies. Average daily intakes of Cd (0.015 μg/day) and Pb (0.045 μg/day) were below toxicological reference values. In conclusion, the levels of Cd and Pb detected in the sweet potatoes analyzed do not represent any toxicological risk to consumers. 相似文献
404.
Vít Matějů Simona Vosáhlová Robin Kyclt Tomáš Janoch Gabriela Šedivcová 《Environmental monitoring and assessment》2014,186(2):711-718
Soil-dwelling annelids of the genus Enchytraeus are used in ecotoxicology for testing of chemicals mixed in artificial soil or for testing of wastes and soils of unknown quality. ISO 16387 describes a method for determining the effects of substances or contaminated soils on survival and reproduction of Enchytraeus albidus or of the smaller species Enchytraeus buchholzi or Enchy-traeus crypticus. After the total test duration of 6 (or 4)?weeks, the juveniles hatched in the meantime are counted. There are several possible extraction techniques, which are always followed by counting the juveniles by hand, but none of them seems easy to handle. We proposed a new modification of the worm extraction method using flotation of fixed and stained juveniles followed by taking a photograph. The digital image of the juveniles is evaluated by computer processing. It makes the counting of juveniles much easier and less labor intensive. 相似文献
405.
Janina Seemann Cindy T. González Rodrigo Carballo-Bolaños Kathryn Berry Georg A. Heiss Ulrich Struck Reinhold R. Leinfelder 《Environmental monitoring and assessment》2014,186(3):1747-1763
Environmental and biological reef monitoring was conducted in Almirante Bay (Bahía Almirante) in Bocas del Toro, Panama, to assess impacts from anthropogenic developments. An integrated monitoring investigated how seasonal temperature stress, turbidity, eutrophication and physical impacts threatened reef health and biodiversity throughout the region. Environmental parameters such as total suspended solids [TSS], carbon isotopes (δ13C), C/N ratios, chlorophyll a, irradiance, secchi depth, size fractions of the sediments and isotope composition of dissolved inorganic carbon [DIC] of the water were measured throughout the years 2010 and 2011 and were analysed in order to identify different impact sources. Compared to data from Collin et al. (Smithsonian Contributions to the Marine Sciences 38:324–334, 2009) chlorophyll a has doubled at sites close to the city and the port Almirante (from 0.46–0.49 to 0.78–0.97 μg l?1) and suspension load increased, visible by a decrease in secchi depth values. Visibility decreased from 9-13 m down to 4 m at the bay inlet Boca del Drago, which is strongly exposed to river run off and dredging for the shipping traffic. Eutrophication and turbidity levels seemed to be the determining factor for the loss of hard coral diversity, most significant at chlorophyll a levels higher than 0.5 μg l?1 and TSS levels higher than 4.7 mg l?1. Hard coral cover within the bay has also declined, at some sites down to <10 % with extremely low diversities (7 hard coral species). The hard coral species Porites furcata dominated the reefs in highly impacted areas and showed a strong recovery after bleaching and a higher tolerance to turbidity and eutrophication compared to other hard coral species in the bay. Serious overfishing was detected in the region by a lack of adult and carnivorous fish species, such as grunts, snappers and groupers. Study sites less impacted by anthropogenic activities and/or those with local protection showed a higher hard coral cover and fish abundance; however, an overall loss of hard coral diversity was observed. 相似文献
406.
Marco A. Aceves-Fernandez J. Carlos Pedraza-Ortega Artemio Sotomayor-Olmedo Juan M. Ramos-Arreguín J. Emilio Vargas-Soto Saul Tovar-Arriaga 《Environmental Modeling and Assessment》2014,19(2):139-152
The use of recurrence plots have been extensively used in various fields. In this work, recurrence plots investigate the changes in the non-linear behaviour of urban air pollution using large datasets of raw data (hourly). This analysis has not been used before to extract information from large datasets for this type of non-linear problem. Two different approaches have been used to tackle this problem. The first approach is to show results according to monitoring network. The second approach is to show the results by particle type. This analysis shows the feasibility of using recurrence analysis for pollution monitoring and control. 相似文献
407.
Germán A. Kopprio Gerhard Kattner R. Hugo Freije Susana José de Paggi Rubén J. Lara 《Environmental monitoring and assessment》2014,186(5):3139-3148
The seasonal variability of inorganic and organic nutrients and stable isotopes and their relations with plankton and environmental conditions were monitored in Lake Chasicó. Principal component analysis evidenced the strong influence of the river runoff on several biogeochemical variables. Silicate concentrations were controlled by diatom biomass and river discharge. Higher values of nitrate and soluble reactive phosphorus (SRP) indicated agricultural uses in the river basin. Elevated pH values (~9) inhibiting nitrification in the lake explained partially the dominance of ammonium: ~83 % of dissolved inorganic nitrogen (DIN). The low DIN/SRP ratio inferred nitrogen limitation, although the hypotheses of iron and CO2 limitation are relevant in alkaline lakes. Particulate organic matter (POM) and dissolved organic matter (DOM) were mainly of autochthonous origin. The main allochthonous input was imported by the river as POM owning to the arid conditions. Dissolved organic carbon was likely top-down regulated by the bacterioplankton grazer Brachionus plicatilis. The δ13C signature was a good indicator of primary production and its values were influenced probably by CO2 limitation. The δ15N did not evidence nitrogen fixation and suggested the effects of anthropogenic activities. The preservation of a good water quality in the lake is crucial for resource management. 相似文献
408.
Elena Crespo Pablo Lozano Julián Blasco Ignacio Moreno-Garrido 《Environmental monitoring and assessment》2014,186(8):4647-4654
Marine epibionts are organisms that grow on submerged surfaces. Those found on seagrass leaves are especially important because of their interactions with the plants, their contribution to primary production in these ecosystems, and their role as food source for heterotrophic fauna. Given the relative lack of ecotoxicological studies on epibionts, the aim of this study is to evaluate the effect of environmental pollution on epiphytes experimentally attached to artificial devices (mimes) consisting of thermally-sealed silicone tubes supported on bamboo sticks that mimic the morphology of seagrasses and serve as an anchor surface for marine epibionts. Mimes were installed on the sea floor in subtidal waters of the Rio San Pedro (Cádiz), collected after 28 days, and incubated in the laboratory with environmental concentrations of atrazine (herbicide), Irgarol (anti-fouling substance), and copper. Tube-dwelling diatoms formed the major component of the epiphyte community. Average surface covering, chlorophyll, and biomass content did not show significant differences between controls and treatments. The glutathione peroxidase activity increased significantly with 4 μg L?1 of atrazine and 5 μg L?1 of copper. This enzymatic activity increase seems to be sufficient to prevent oxidative cellular damage by removing reactive oxygen substances produced by oxidative stress; in addition to this enzyme, there might be other antioxidant enzymes which have not been measured in this study, that have also protected the organism from oxidative damage. Thus, the measurement of antioxidant enzymatic activity in epiphytes may be a useful toxicity indicator for coastal biomonitoring. 相似文献
409.
Community metabolism in a deep (stratified) tropical reservoir during a period of high water-level fluctuations 总被引:2,自引:0,他引:2
Patricia M. Valdespino-Castillo Martín Merino-Ibarra Jorge Jiménez-Contreras Fermín S. Castillo-Sandoval Jorge A. Ramírez-Zierold 《Environmental monitoring and assessment》2014,186(10):6505-6520
As long as lakes and reservoirs are an important component of the global carbon cycle, monitoring of their metabolism is required, especially in the tropics. In particular, the response of deep reservoirs to water-level fluctuations (WLF) is an understudied field. Here, we study community metabolism through oxygen dynamics in a deep monomictic reservoir where high WLF (~10 m) have recently occurred. Simultaneous monitoring of environmental variables and zooplankton dynamics was used to assess the effects of WLF on the metabolism of the eutrophic Valle de Bravo (VB) reservoir, where cyanobacteria blooms are frequent. Mean gross primary production (P g) was high (2.2 g C m?2 day?1), but temporal variation of P g was low except for a drastic reduction during circulation attributed to zooplankton grazing. The trophogenic layer showed net autotrophy on an annual basis, but turned to net heterotrophy during mixing, and furthermore when the whole water-column oxygen balance was calculated, considering the aphotic respiration (R aphotic). The high total respiration resulting (3.1 g C m?2 day?1) is considered to be partly due to mixing enhanced by WLF. Net ecosystem production was equivalent to a net export of 3.4 mg CO2?m?2 day?1 to the atmosphere. Low water levels are posed to intensify boundary-mixing events driven by the wind during the stratification in VB. Long-term monitoring showed changes in the planktonic community and a strong silicon decrease that matched with low water-level periods. The effects of low water-level on metabolism and planktonic community in VB suggest that water-level manipulation could be a useful management tool to promote phytoplankton groups other than cyanobacteria. 相似文献
410.
Manuela Carneiro Bruno Colaço Ricardo Brandão Carla Ferreira Nuno Santos Vanessa Soeiro Aura Colaço Maria João Pires Paula A. Oliveira Santiago Lavín 《Environmental monitoring and assessment》2014,186(11):7011-7021
The accumulation of heavy metals in the environment may have a wide range of health effects on animals and humans. Thus, in this study, the concentrations of arsenic (As), cadmium (Cd), lead (Pb), and mercury (Hg) in the blood and tissues (liver and kidney) of Portuguese common buzzards (Buteo buteo) were determined by inductively coupled plasma-mass spectrometer (ICP-MS) in order to monitor environmental pollution to these elements. In general, Hg and As were the elements which appeared in the highest and lowest concentrations, respectively. A highest percentage of non-detected concentration was found for blood Cd (94.6 %) but, in turn, it was the only metal that was detected in all kidney samples. The kidney was the analyzed sample which showed the highest concentrations of each element evaluated. Statistically, significant differences among blood, liver, and kidney samples were observed for As and Cd (P?0.05). Cd concentrations in kidney and liver varied significantly with age: Adults showed higher hepatic and renal Cd concentrations than juveniles. Blood Pb concentration seems to show an association with the hunting season. Although raptors are at the top of the food chain and are thus potentially exposed to any biomagnification processes that may occur in a food web, the individuals evaluated in this study generally had low levels of heavy metals in blood and tissues. However, chronic exposure to these metals was verified. The results presented here lend weight to arguments in favor of continuous biomonitoring of metals and metalloids, since heavy metals may accumulate to levels that will pose a risk to both human health and the environment. 相似文献