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A family is described in which two anencephalic fetuses were identified in two pregnancies. Autopsy revealed kidney anomalies in both fetuses. Chromosome analysis was performed only on the second fetus, which had a 46,XY,lOq+ karyotype. Parental chromosome analysis showed the maternal karyotype to be 46,XX,t(2;10) (p24;q26) thus demonstrating that the fetus was carrying a duplication 2(p24→pter). Recurrence risks for anencephaly based on the cytogenetic abnormality were much higher than those which would be quoted for isolated anencephaly. This points out the necessity for complete diagnostic studies when a fetus with a neural tube defect is identified. The literature in regard to the 2p duplication phenotype is reviewed. It is possible that the duplication of the distal segment of 2p results in a neural tube defect/kidney anomaly phenotype. 相似文献
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K. Warburton 《Marine Biology》1973,23(2):93-100
Investigations carried out under natural conditions suggest that Nerita plicata Linné is capable of orientating to the sun. Behaviour is predominatly photonegative during the morning, and photopositive during the afternoon. Accuracy of orientation improves as the brightness of the sun increases. At Watamu (Kenya), snails tended to orientate away from the sea at all times of the day. Orientatory performance is not affected by the temporal proximity of high or low water, and locomotory speeds seem to be unaffected by the strength of the sun, the time of day, or the state of the tide. 相似文献
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Applications of Total Maximum Daily Load (TMDL) criteria for complex estuarine systems like Chesapeake Bay have been limited by difficulties in estimating precisely how changes in input loads will impact ambient water quality. A method to deal with this limitation combines the strengths of the Chesapeake Bay's Water Quality Sediment Transport Model (WQSTM), which simulates load response, and the Chesapeake Bay Program's robust historical monitoring dataset. The method uses linear regression to apply simulated relative load responses to historical observations of water quality at a given location and time. Steps to optimize the application of regression analysis were to: (1) determine the best temporal and spatial scale for applying the WQSTM scenarios, (2) determine whether the WQSTM method remained valid with significant perturbation from calibration conditions, and (3) evaluate the need for log transformation of both dissolved oxygen (DO) and chlorophyll a (CHL) datasets. The final method used simple linear regression at the single month, single WQSTM grid cell scale to quantify changes in DO and CHL resulting from simulated load reduction scenarios. The resulting linear equations were applied to historical monitoring data to produce a set of “scenario‐modified” DO or CHL concentration estimates. The utility of the regression method was validated by its ability to estimate progressively increasing attainment in support of the 2010 Chesapeake Bay TMDL. 相似文献
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Abstract The aim of this paper is to use Erikson's approach to human development, and specifically generativity, as a framework by which to explore older people's experiences of environmental stewardship activities. Using data from a large qualitative study of environmental volunteers resident in the coastal fringes of Queensland, Australia, the paper provides important, illustrative, empirical support for Erikson's theory of generativity in later life. Findings suggest that older people are much more likely to connect their environmental actions with the longer-term future, and express a need to leave a lasting legacy for future generations. According to respondents, the later years are a time to contribute to the environment as part of a broader cycle of life. The environment is also an important site for intergenerational activities. Whilst the work presented here is only a small, localized study, use of Erikson's theory of human development as a framework helps demonstrate the importance of a generative response in later life. 相似文献
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Dorothy Warburton 《黑龙江环境通报》1984,4(7):69-80
The frequency of de novo rearrangements at amniocentesis was determined in 76952 prenatal diagnoses from centres in the United States. Rates for balanced rearrangements are slightly greater than rates previously reported in the newborn, possibly because banding studies were not used in the latter. Rates for unbalanced rearrangements are considerably higher in the amniocentesis data not only because banding was used but also because a substantial loss of abnormal conceptions is to be expected between amniocentesis and birth. The higher frequency of cases with supernumerary markers at amniocentesis is unexplained. A review of 66 apparently balanced de novo rearrangements found at amniocentesis revealed evidence of abnormality in five; in four of these the abnormality was noted in the abortus. The number of cases observed is still too small to rule out a risk of abnormality no greater than the usual rate of abnormalities at birth. Abnormalities were detected in 6 of 10 cases with unbalanced de novo rearrangements. In 33 cases of non-familial supernumerary chromosomes 6 (18.2 per cent) showed abnormality. Non-satellited markers appeared to have a higher rate of abnormality than satellited markers but the difference is not statistically significant. Further studies and improved follow-up of de NOVO cases diagnosed at amniocentesis are required. 相似文献
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Commercial and small-scale farmers in South Africa are exposed to many challenges. Interviews with 44 farmers in the upper Thukela basin, KwaZulu-Natal, were conducted to identify common and specific challenges for the two groups and adaptive strategies for dealing with the effects of climate and other stressors. This work was conducted as part of a larger participatory project with local stakeholders to develop a local adaptation plan for coping with climate variability and change. Although many challenges related to exposure to climate variability and change, weak agricultural policies, limited governmental support, and theft were common to both farming communities, their adaptive capacities were vastly different. Small-scale farmers were more vulnerable due to difficulties to finance the high input costs of improved seed varieties and implements, limited access to knowledge and agricultural techniques for water and soil conservation and limited customs of long-term planning. In addition to temperature and drought-related challenges, small-scale farmers were concerned about soil erosion, water logging and livestock diseases, challenges for which the commercial farmers already had efficient adaptation strategies in place. The major obstacle hindering commercial farmers with future planning was the lack of clear directives from the government, for example, with regard to issuing of water licences and land reform. Enabling agricultural communities to procure sustainable livelihoods requires implementation of strategies that address the common and specific challenges and strengthen the adaptive capacity of both commercial and small-scale farmers. Identified ways forward include knowledge transfer within and across farming communities, clear governmental directives and targeted locally adapted finance programmes. 相似文献