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Mary C. Phelan R. Curtis Rogers Ron C. Michaelis C. Lynn Moore Will Blackburn 《黑龙江环境通报》2001,21(6):457-460
Mosaicism for trisomy 13 and triploidy was detected by amniocentesis performed at 18 weeks' gestation because of fetal anomalies. Pregnancy continued and a live-born male was delivered vaginally at 37 weeks. The infant had features common to both trisomy 13 and triploidy: intrauterine growth retardation (IUGR), small abnormal ears, cleft palate, and a small jaw. In addition, he had complete cutaneous syndactyly of fingers 3 and 4 and partial syndactyly of the toes, as seen in triploidy. Mixoploidy for trisomy 13 and triploidy was confirmed postnatally in blood, skin, and placenta. Examination of chromosome heteromorphisms and DNA markers suggested the presence of two maternal contributions in the triploid cell line. In addition, the extra chromosome 13 in the trisomic cell line was derived from the mother. Copyright © 2001 John Wiley & Sons, Ltd. 相似文献
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Sofia A. Kyriakeas Mary C. Watzin 《Journal of the American Water Resources Association》2006,42(2):425-441
Benthic macroinvertebrate communities in streams adjacent to cornfields, streams where cows had unrestricted access, and reference locations without agriculture were compared to examine the effects of local land use and land use/land cover in the watershed. At each local site, macroinvertebrates and a variety of habitat parameters were measured upstream, adjacent, downstream, and farther downstream of the local land use. A geographic information system (GIS) was used to calculate drainage basin area, land use/land cover percentages in each basin, and the distance from sample sites to the stream source. Three‐way analysis of covariance (ANCOVA) tests with date, site type, and sampling location as main effects were used to explore differences in macroinvertebrate metrics using median substrate size, percent hay/pasture area, and stream depth as covariates. The covariates significantly improved model fit and showed that multiple contributing factors influence community composition. Local impacts were greatest at sites where cows had access, probably because of sedimentation and embeddedness in the substrate. Differences between the upstream and the adjacent and downstream locations were not as great as expected, perhaps because upstream recolonization was reduced by agricultural impacts or because of differences in the intensity or proximity of agriculture to riparian areas in the watershed. The results underscore the importance of both local and watershed factors in controlling stream community composition. 相似文献
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This paper presents development of a first approximation of a Namibian, national level, land degradation monitoring system.
The process involved a large number of stakeholders and led to the definition of four primary indicators that were regarded
as related to land degradation in Namibia: population pressure, livestock pressure, seasonal rainfall and erosion hazards.
These indicators were calculated annually for the period 1971–1997. Annual land degradation risk maps were produced for the
same period by combining the indicators. A time series analysis of results generated by indicators was undertaken at two sites.
The analysis revealed a general trend towards an increased land degradation risk over the period 1971–1997. A decrease in
annual rainfall and an increase in livestock numbers caused this negative trend at one site, while decreased annual rainfall
and increased human population were the causes at a second site. Evaluation of resulting maps through direct field observations
and long-term monitoring at selected study sites with different conditions relevant for the indicators defined, is an essential
next step. 相似文献
6.
Sarah Simpson Mary Mahoney Elizabeth Harris Rosemary Aldrich Jenny Stewart-Williams 《Environmental Impact Assessment Review》2005,25(7-8):772
In Australasia (Australia and New Zealand) the use of health impact assessment (HIA) as a tool for improved policy development is comparatively new. The public health workforce do not routinely assess the potential health and equity impacts of proposed policies or programs. The Australasian Collaboration for Health Equity Impact Assessment was funded to develop a strategic framework for equity-focused HIA (EFHIA) with the intent of strengthening the ways in which equity is addressed in each step of HIA. The collaboration developed a draft framework for EFHIA that mirrored, but modified the commonly accepted steps of HIA; tested the draft framework in six different health service delivery settings; analysed the feedback about application of the draft EFHIA framework and modified it accordingly. The strategic framework shows promise in providing a systematic process for identifying potential differential health impacts and assessing the extent to which these are avoidable and unfair. This paper presents the EFHIA framework and discusses some of the issues that arose in the case study sites undertaking equity-focused HIA. 相似文献
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Mary C. Phelan Ph.D. Robert A. Saul Thompson A. Gailey Jr Steven A. Skinner 《黑龙江环境通报》1995,15(3):274-277
Mosaicism for the Wolf-Hirschhorn syndrome, del(4)(p16), is extremely rare and has not been reported in association with a numerical chromosome abnormality. We report the prenatal diagnosis of mosaic del(4)(p16) and non-mosaic trisomy 21 in a 16-week female fetus. The pregnancy ended in spontaneous abortion at 34 weeks secondary to fetal demise. The fetus had features of both 4p – and trisomy 21. 相似文献
8.
Five cases of mosaicism for an isochromosome of 20q have been detected from a total of 50 000 cases analysed for prenatal diagnosis by amniocentesis. Karyotypes were designated mos 46,X_/46,X_,i(20q). In all cases, the abnormal cell line was detected in more than one primary culture, thus fulfilling the criterion for true (level III) mosaicism. Indications for prenatal diagnosis were parental anxiety (two cases), low maternal serum alpha-fetoprotein (AFP) (two cases), and high maternal serum AFP (one case). Level II ultrasounds on all five fetuses were normal, and the abnormal cell line was never detected in fetal blood and/or cord blood. All five pregnancies were continued and had normal outcomes, with birth weights ranging from 2.4 to 3.8 kg. The development of all five children has been normal, with the oldest child in the study now 4 years of age. We suggest that the abnormal cell line in each case was of extrafetal origin, and that this may be one of the more common examples of this phenomenon, occurring in approximately 1/10000 prenatal diagnoses. Mosaicism i(20q) may have been missed in the past because of the higher resolution necessary to detect this subtle change. 相似文献
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Siegfried Rotmensch Marco Liberati Jia-Sen Luo Giovanni Tallin Maurice J. Mahoney John C. Hobbins 《黑龙江环境通报》1991,11(11):867-873
Many authors have suggested that individuals affected by a terminal 1q deletion display a phenotypically definable and recognizable syndrome. In all of the 27 cases reported to date, the breakpoints were at band q42 or distally to it. To our knowledge, we report the first case of a terminal 1q41 deletion. Diagnosis was made prenatally by amniocentesis, following ultrasonographic diagnosis of omphalocele, cerebral ventriculomegaly, and increased nuchal fold thickness in a 19-week female fetus. Multiple facial and extremity features were consistent with the proposed distal 1q deletion syndrome; omphalocele, however, has not been reported previously. The absence of liver herniation into the omphalocele sac in this case supports the previously reported association of this finding with chromosomal anomalies. 相似文献