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31.
The most widely used method for fetocide in late termination of pregnancy for fetal abnormalities (TOPFA) consists of injecting of potassium chloride (KCl) into the fetal heart and is likely to be painful after 22 weeks of gestation. We studied ten consecutive women undergoing TOPFA between 22 and 38 weeks. This technique for fetocide consisted of a single umbilical vein puncture under ultrasound guidance with injections of sufentanil 5 µg followed by KCl 2 g. No electrocardiographic modifications could be observed and maternal plasma potassium levels did not show any significant variation throughout the procedure. Fetal umbilical phlebotomy for fetal analgesia followed by fetocide therefore appears to be a safe procedure for the mother and allows the fetus to die without pain when late termination of pregnancy (TOP) is indicated. Copyright © 2002 John Wiley & Sons, Ltd.  相似文献   
32.
Fragile X syndrome is the most common cause of familial mental retardation. The most common mutation is expansion of a triplet (CGG)n repeat in the 5′ untranslated region of the FMR1 gene on Xq27.3. The expansion is refractory to PCR due to preferential amplification of the smaller allele in heterozygous cells and the high GC content of the repeat and surrounding sequences. Direct detection of the normal parental alleles in preimplantation embryos has been used for preimplantation genetic diagnosis (PGD) of this disorder. However, this approach is only suitable for approximately 63% of couples due to the heterozygosity of the repeat in the normal population. As an alternative we investigated the use of polymorphic markers flanking the mutation to track the normal and premutation carrying maternal chromosomes in preimplantation embryos. Using a panel of 11 polymorphisms, six (CA)n repeats and five single nucleotide polymorphisms, diagnosis was developed for 90% of referred couples. Multiplex amplification of informative markers was tested in 300 single buccal cells from interested couples with efficiency and allele drop out (ADO) rates ranging from 69% to 96% and 6% to 18%, respectively. Use of this approach is accurate and applicable to a larger number of patients at risk of transmitting fragile X to their offspring. Copyright © 2001 John Wiley & Sons, Ltd.  相似文献   
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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   
36.
Male phenotype associated with a 45,X karyotype is an infrequent finding. We present a case diagnosed prenatally on amniocentesis performed for maternal age. The male phenotype was associated with a translocation of a distal part of Yp including the pseudoautosomal SHOX gene and SRY gene on the short arm of a chromosome 21. By DNA analysis we could show that the X chromosome was of maternal origin and that the breakpoint was in interval 3 of the Y chromosome. Mechanisms and genetic counselling are discussed based on a review of published cases of 45,X and XX males. Copyright © 2002 John Wiley & Sons, Ltd.  相似文献   
37.
The haematotoxicity of technical hexachlorocyclohexane (HCH) (1000 ppm) was investigated in male albino rats fed with diet free of vitamin A or containing vitamin A at 2000 or 10(5) I.U./kg. Assessment of HCH-induced haematotoxicity at the end of the 7 weeks feeding period was done on the basis of haemoglobin content, total count of red blood cells and white blood cells and the differential counts of the white blood cells as well as by parameters such as packed cell volume, mean corpuscular volume, mean corpuscular haemoglobin, mean corpuscular haemoglobin content, prothrombin time and clotting time. In the rats fed with vitamin A-free diet containing HCH, significant reductions were noticed in the total white blood cells count, clotting time and prothrombin time indicating severe haematotoxicity. Differential count of the white blood cells of these rats revealed a non-significant reduction in the lymphocyte count. The only indication of haematotoxicity caused by hexachlorocyclohexane in the vitamin A supplemented rats was a slight but statistically significant reduction of the total count of white blood cells. These results demonstrate that the haematotoxicity of hexachlorocyclohexane in the rats is enhanced by vitamin A-deficiency and its supplementation particularly in excess but not at hypervitaminotic level is protective against the toxicity.  相似文献   
38.
From 1988 to 1991, we studied the postfledging dispersal of 31 radio-tagged White-crowned Pigeons ( Columba leucocephala ) from three natal keys in Florida Bay. Immature birds dispersed from the natal keys at 26–45 days after batching, and most young dispersed more than 20 km during the first 10 days postdispersal. Dispersing birds flew either north to the Florida mainland or east to northeast to the mainline Florida Keys. On the mainland, immature birds fed nearly exclusively within Everglades National Park or an adjacent state wildlife management area. On the mainline keys, White-crowned Pigeons selectively used 5.01–20 ha forest fragments (p < 0.10) during the first 72 hours postdispersal. After this period, dispersing birds showed no preference among fragment size classes but used deciduous seasonal forests more frequently than suburban habitat(p < 0.10). The spatial pattern of dispersal on the mainline keys suggests that, during the first 72 hours postdispersal. White-crowned Pigeons are not able to reach northern Key Largo, where 69% of the deciduous seasonal forests are protected in state or federal ownership. Protection of large forest fragments, especially on southern Key Largo, should be a priority for maintaining populations of White-crowned Pigeons. These forests provide a series of "stepping stones" that enable dispersing immature White-crowned Pigeons to fly to more distant areas where habitat availability is less restricted. This species is threatened in Florida and may play an important role in maintaining plant species diversity in the seasonal deciduous forests of south Florida by dispersing seeds of at least 37 species of trees and shrubs. Protection of sufficient habitat to allow successful postfledging dispersal of this important seed disperser will also protect the ecosystem's biodiversity.  相似文献   
39.
This paper demonstrates the potential for induced preference experiments to test previously unverified explanations of observed behavior in contingent valuation surveys. The NOAA Panel on Contingent Valuation called for experimental evidence on potential biases in the double referendum format. We test Carson, Groves, and Machina's (Incentives and informational properties of preference questions, Plenary address to the European Association of Resource and Environmental Economists, Oslo, Norway, June 1999) simple cost uncertainty and weighted averaging explanations of inconsistent responses to follow-up offers in such double referenda against a baseline of certainty and truthful preference revelation. The results find evidence to support the Weighted Average hypothesis. Results regarding the cost uncertainty hypothesis are more ambiguous and merit further investigation.  相似文献   
40.
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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