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While true mosaicism occurs in only 0–25 per cent of genetic amniocenteses, nearly 2–5 per cent of amniotic fluid cell cultures contain a second cell line. In the common practice of prenatal diagnosis, an aberrant cell line confined to a single colony is usually disregarded. We present a case of mosaic trisomy 14 which was not detected on initial chromosome analysis. At birth, multiple malformations were apparent. Newborn cytogenetic studies revealed mosaicism [46,XX/46,XX,-14,+i(14q)] with an isochromosome 14 in 37 per cent of lymphocytes. Additional cells from the initial amniotic fluid culture were analysed post-delivery and the isochromosome 14 identified in only one of 12 total colonies. This case illustrates two important lessons in prenatal diagnosis. First, amniotic fluid cell cultures may not accurately reflect the relative distribution of the normal and abnormal cell lines within a mosaic fetus. Second, while it is generally reasonable to disregard mosaicism confined to a single colony, this policy will, on rare occasion, result in diagnostic error. This should be taken into consideration, particularly when dealing with autosomal trisomies potentially compatible with livebirth. 相似文献
994.
Laurent P Dooms C Braekman JC Daloze D Habib-Jiwan JL Rozenberg R Termonia A Pasteels JM 《Die Naturwissenschaften》2003,90(11):524-527
Several species of Doryphorina leaf beetles from Central- and South America produce oleanane triterpene glycosides in their defensive glands. The presence of pentacyclic triterpenes in insects is intriguing since they lack the key enzymes necessary to synthesize these compounds. Since -amyrin is a common constituent of leaf waxes, we hypothesized that these leaf beetles use this compound as a precursor to their oleanane glycosides. To test this hypothesis we first confirmed the presence of -amyrin in Ipomoea batatas, the food plant of Platyphora kollari. Next, adults of P. kollari were fed for 10 days with I. batatas leaf disks painted with a solution of [2,2,3-2H3]-amyrin ([2,2,3-2H3]-1). The secretion from their defensive glands was collected and analyzed by HPLC-ESIMS. The results demonstrated that the secretion of beetles fed with an amount of [2,2,3-2H3]-amyrin corresponding to the quantity of unlabeled (natural) -amyrin present in the leaf disks contained on average 5.1% of [2,2,3-2H3]-3-O--d-glucopyranosyl-(1-->4)--d-glucuronopyranosyl-hederagenin ([2,2,3-2H3]-2), whereas the secretions of beetles fed with 10 times this amount of [2,2,3-2H3]-amyrin contained on average 23.9% of [2,2,3-2H3]-2. In both series of experiments, the percentage of labeled versus unlabeled triterpene glycoside in the secretion was positively correlated with the amount of deuterated -amyrin ingested. These results demonstrate for the first time that some leaf beetles are able to metabolize a widespread triterpenic constituent of leaf wax into more complex glycosides that are stored in their defensive glands. 相似文献
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Biomass,as fuelwood,is one of the major sources of energy in rural areas,especially in the mountainous regions of the world.As the increasing human population exerts more pressure on the forest thereby inducing an adverse effect on the sustainability of the ecosystem,which consequently causes fuelwood crisis at a local level,this crisis is spatio-temporal in nature.Thus,the major objective of this study is to assess the sustainability of fuelwood at different probable scenarios at a micro watershed level.The present study was conducted in the Phakot watershed,the Tehri Garhwal district of central Himalaya in India,during 2006-2008.Based on the vegetation composition in the study area,the net primary productivity(NPP)value of the Oak forest,and mixed oak and sal forests,was used for the quantification of fuelwood availability in evergreen and deciduous forests,respectively.The fuelwood demand was calculated on the basis of seasonal fuelwood consumption values.Nine probable permutations for availability-demand scenarios assuming the existence of high(H),low(L)and average(A)conditions were analyzed for evaluating the stress.The available annual harvestable fuelwood in the watershed is in the minimum and maximum ranges of 2283.28 to 4066.00 tons,respectively,per year whereas it has a demand of 110.76 tons as the minimum to 3659 tons as the maximum annually.This shows that in the current availabilitydemand scenario,the watershed does not have fuelwood crisis in the present situation but needs to maintain the sustainability of the system.Based on our study,it is concluded that,globally,more spatio-temporal study is required to understand the issues at the local level. 相似文献
1000.
An existing model of radiocaesium transfer to grasses was extended to include wheat and barley and parameterised using data from a wide range of soils and contact times. The model structure was revised and evaluated using a subset of the available data which was not used for model parameterisation. The resulting model was then used as a basis for systematic model reduction to test the utility of the model components. This analysis suggested that the use of 4 model variables (relating to radiocaesium adsorption on organic matter and the pH sensitivity of soil solution potassium concentration) and 1 model input (pH) are not required. The results of this analysis were used to develop a reduced model which was further evaluated in terms of comparisons to observations. The reduced model had an improved empirical performance and fewer adjustable parameters and soil characteristic inputs. 相似文献