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101.
Jaafar  Hadi  Ahmad  Farah  Holtmeier  Lauren  King-Okumu  Caroline 《Ambio》2020,49(6):1179-1193
Ambio - The Syrian crisis caused a massive influx of displaced people into neighboring countries, with Lebanon hosting the highest per capita number of refugees (3:10). Water remains the most...  相似文献   
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SMPD4 loss is a rare neurodevelopmental disorder that leads to severe mental and physical disability and early death in infancy. Most cases of this genetic condition have been diagnosed postnatally. This article focuses on the prenatal findings of affected fetuses. The phenotypes can include growth restriction, arthrogryposis (clenched hands, foot deformity), as well as cerebral abnormalities (simplified gyral pattern/lissencephaly, cerebellar hypoplasia, corpus callosum deformity). SMPD4 loss is detectable via exome sequencing. Here, two fetuses displayed a homozygotic pathogen variant in the SMPD4 gene, encoding for the enzyme Sphingomyelinase-4. Both parents were heterozygous carriers of the pathogenic variant. On detection of the above mentioned signs exome sequencing is indicated, with focus on the SMPD4 gene.  相似文献   
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Amniotic fluids were obtained from 19 mothers who had previously given birth to a child with cystic fibrosis. Measurement of methylumbelliferyl guanidinobenzoate (MUGB) reactive proteases suggested that all 19 would have unaffected babies. Amongst the first 10 cases to come to term there were 5 infants with cystic fibrosis. It is concluded that MUGB protease titration is not suitable for the early prenatal diagnosis of cystic fibrosis.  相似文献   
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Assessing the health risk from lead (Pb) in potable water requires accurate quantification of the Pb concentration. Under worst-case scenarios of highly contaminated water samples, representative of public health concerns, up to 71–98 % of the total Pb was not quantified if water samples were not mixed thoroughly after standard preservation (i.e., addition of 0.15 % (v/v) HNO3). Thorough mixing after standard preservation improved recovery in all samples, but 35–81 % of the total Pb was still un-quantified in some samples. Transfer of samples from one bottle to another also created high errors (40–100 % of the total Pb was un-quantified in transferred samples). Although the United States Environmental Protection Agency’s standard protocol avoids most of these errors, certain methods considered EPA-equivalent allow these errors for regulatory compliance sampling. Moreover, routine monitoring for assessment of human Pb exposure in the USA has no standardized protocols for water sample handling and pre-treatment. Overall, while there is no reason to believe that sample handling and pre-treatment dramatically skew regulatory compliance with the US Pb action level, slight variations from one approved protocol to another may cause Pb-in-water health risks to be significantly underestimated, especially for unusual situations of “worst case” individual exposure to highly contaminated water.  相似文献   
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In recent years, the level of heavy metal pollution in urban areas has been of considerable concern. The principal source has been attributed to the motor vehicle and increasing inner city congestion, which has lead to a change and enlargement of transport stop-start zones. These areas of high traffic density are associated with an increased release of heavy metals into the adjacent residential or commercial areas. Seventy-five roadside dust samples were collected throughout the inner city and by-pass motorway areas of Thessaloniki, Northern Greece. Samples were taken from arterial, major and minor roads, as well as the ring road, to compare and contrast the levels of heavy metals, namely Cu, Zn, Cd, Mn and Pb. Flame Atomic Absorption Spectroscopy (FAAS) was developed to quantitatively determine concentrations of both total element and geochemical fractionation, within the two dust particulate fraction sizes <75 microm and 75-125 microm. Acid digestion using Aqua Regia (3:1 conc. HCl:HNO(3)) was employed for the total elemental analysis, a method that was validated through the use of certified reference materials (CRM). Fractionation studies involved a three-step sequential extraction method performed on five selected samples (representatives of high, mid and low total elemental concentrations). The resultant solutions were analysed for lead and zinc levels to ascertain fractionation throughout the different geochemical fractions, thus assessing bioavailability.It was found that congestion/stop-start traffic patterns did influence and have led to increased levels of heavy metal deposition along inner city roads compared to levels observed on the new relief ring road. Dust particulate fraction sizes were only found to show statistically significant differences in cadmium and manganese, at the probability P < 0.001 or 99.9% confidence limit. Both Cd and Mn showed higher total levels in the smaller fraction sizes (<75 microm), implying that their major release source is exhaust emissions. There were no significant differences in the other elements, at the P > 0.05 or 95% confidence limit. Road type was seen to have little affect on cadmium and manganese, though lead, copper and zinc were all found to show higher levels on the inner city routes. This can be related back to the wear-and-tear of vehicle components as a result of the stop-start traffic patterns (brake pads etc). Both Pb and Zn have shown to be in chemical forms that are bio available to ecosystems.  相似文献   
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Summary. Larvae of the turnip sawfly, Athalia rosae L. (Hymenoptera: Tenthredinidae), sequester glucosinolates of their host plants, namely members of the Brassicaceae family, in their haemolymph. Therefore, they need to circumvent myrosinase activities of the plant tissue which normally hydrolyse the glucosinolates after plant damage. Effects of varying levels of glucosinolates and myrosinases on the performance of A. rosae were investigated using homozygous lines of Brassica juncea (L.) with either (1) low glucosinolate (lowGS) and low myrosinase (lowMR), (2) high glucosinolate (highGS) and high myrosinase (highMR), or (3) high glucosinolate (highGS) and low myrosinase (lowMR) levels. To insure that the given quantities remained as constant as possible, newly hatched larvae were enclosed on the second-youngest leaf of a plant, and were offered a new plant of comparable physiological age (6-leaf-stage) every day. The performance of A. rosae was little affected by leaf quality. Body masses of eonymphs and adults were on average lowest on the highGS/highMR-line, but these differences were rarely significant. The pupal developmental times of females and males were longest on the highGS/lowMR-line in only one of two replicate experiments. All other performance traits (developmental times of larvae, egg numbers, adult longevity) were not significantly different. Glucosinolates, sequestered by the larvae, are carried through the pupal stage. The glucosinolate concentration measured in adult insects reflected the level of the host plant line, without showing any obvious costs for sequestration. Obviously, A. rosae is highly tolerant to variation in the glucosinolate-myrosinase system of its host. In addition, induced changes of glucosinolate concentrations and myrosinase activities caused by 24 h-feeding of groups of three small larvae were analysed in the second-youngest leaves. In contrast to the patterns most herbivores evoke on Brassicaceae, namely an increase of both glucosinolate concentration and myrosinase activity, we detected a significant decrease of both traits in all three lines where the respective trait was originally high in the plants. Although glucosinolate levels dropped in the highGS lines about 50%, these still contained higher concentrations than the lowGS line. Whereas the activity of soluble myrosinases remained highest in the highMR line, even after a decrease to almost 30% due to feeding, the levels of insoluble myrosinases converged after feeding in lowMR and highMR lines. Levels of the signalling molecule salicylic acid slightly decreased on average after feeding, whereas jasmonic acid was below the detection threshold in almost all samples. The concentration of several molecules varies strongly in plant tissue with age and can change due to induction by herbivore feeding. Therefore, if performance of an insect species is measured on plants with specific traits, the variability in these traits needs to be carefully controlled in experiments.  相似文献   
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Jellyfish are increasingly topical within studies of marine food webs. Stable isotope analysis represents a valuable technique to unravel the complex trophic role of these long-overlooked species. In other taxa, sample preservation has been shown to alter the isotopic values of species under consideration, potentially leading to misinterpretation of trophic ecology. To identify potential preservation effects in jellyfish, we collected Aurelia aurita from Strangford Lough (54o22′44.73″N, 5o32′53.44″W) during May 2009 and processed them using three different methods prior to isotopic analysis (unpreserved, frozen and preserved in ethanol). A distinct preservation effect was found on δ15N values: furthermore, preservation also influenced the positive allometric relationship between individual size and δ15N values. Conversely, δ13C values remained consistent between the three preservation methods, conflicting with previous findings for other invertebrate, fish and mammalian species. These findings have implications for incorporation of jellyfish into marine food webs and remote sampling regimes where preservation of samples is unavoidable.  相似文献   
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