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We report herein a de novo unbalanced chromosome translocation in a fetus resulting from in vitro fertilization technology. Prenatal diagnostic analysis of an amniotic fluid revealed a 46,XX,4p+ karyotype. The origin of the extra material on the short arm of chromosome 4 could not be identified by a variety of banding techniques. However, examination of fetal parts did reveal some dysmorphic features.  相似文献   
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A population of 1639 patients were seen for chorionic villus sampling (CVS). Embryonic death was identified at ultrasound in 5.3 per cent of patients. The number of patients undergoing CVS was 1551, with 1416 transcervical procedures and 135 transabdominal procedures. The most common indication for CVS was advanced maternal age. Spontaneous pregnancy losses identified by increased risk of pregnancy loss with increasing aspiration attempts. The total fetal loss for this population was 5.4 per cent with the pregnancy loss estimated due to procedure being 1.2 per cent. Analysis of placentae from patients having CVS and amniocen-tesis showed no differences. Microbiological assessment prior to CVS was similar to previous publications.  相似文献   
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This article reports the results of a retrospective study designed to examine the responses of couples to genetic amniocentesis and subsequent therapeutic abortions due to birth defects. Fourteen women and 12 men were interviewed by experienced interviewers using a structured format designed by the authors, and each interview was audiotaped for later rating. The 5 raters (all women) were instructed to independently rate each interview using forms designed by the authors to elicit information about many aspects of the participant's individual responses as well as perceptions of spouse's responses to the process of pregnancy, amniocentesis, therapeutic abortion, and sequelae. Ratings of all 5 raters were conjoined and an homogeneous narrative was constructed for each interview. Results indicate, in general, that the respondent couples coped well with this experience. In fact 70 per cent of the respondent couples described their marital relationships as becoming closer as a result of their experience. Only a few participants reported long-term deleterious effects. Most couples coped by relying on relatives, friends, and occasionally, professional counsellors. In addition, most participants in this study suggested ways to improve the medical and psychological aspects of this experience.  相似文献   
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Amniocyte clones from a mid-trimester pregnancy disclosed 45,X/46,XY sex chromosome mosaicism. Because of the uncertainty concerning the phenotype of the fetus, the parents elected to terminate the pregnancy. Mixed (asymmetrical) gonadal dysgenesis was not found. The fetus appeared to have a normal male uro-genital system. No malformations of any type were detected, although as expected, the fetus did have 45,X/46,XY mosaicism.  相似文献   
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A case of fatal generalized dystrophic epidermolysis bullosa is described in a prematurely born female whose mother had strikingly elevated mid-trimester serum and amniotic fluid alpha-fetoprotein concentrations, a positive amniotic fluid acetylcholinesterase band, and negative serial ultrasound studies. This case lends further support to an association between autosomal recessive generalized dystrophic epidermolysis bullosa and increased levels of alpha-fetoprotein, positive amniotic fluid acetylcholines'terase, and normal ultrasound findings.  相似文献   
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Economists have tried to estimate the demand for recreation under conditions of congestion, struggling especially with a model that uses observed rather than stated behaviour to obtain results. This paper reports statistical analyses of data on perceptions, mitigating behaviour and management preferences in order to highlight the difficulties related to empirical analysis of congestion. We offer evidence that may be of assistance to those wishing to construct measures of congestion for use in an observed behaviour model. The results may also be useful to recreation area managers who can implement a quota or permit system or change site entry or access fees to control access to the site they manage.  相似文献   
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The paper engages in the discussion of conducting research in war zones, initiated in Disasters by Barakat and Ellis. It looks specifically at possibilities for research in the war zones of Eritrea and Northern Ethiopia during the 1980s, and notes the ways in which this context differs from wars in the former Yugoslavia to which Barakat and Ellis mainly refer. The authors suggest that the unique context of every internal war, and the institutional actors that converge around this context, create both the potential and the demand for particular kinds of information, especially when humanitarian programmes involving international donors are under way. De-contexualising research in war zones from the specific context in which it occurs, in order to derive general guidelines, can thus be problematic.  相似文献   
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In multiphase systems capillary pressures play a significant role on fluid movement and retention. The facility to predict the effect of different thermal remediation strategies requires the knowledge of the effect of temperature on capillary pressure-saturation relationships in the soils. The objective of recent study was (a) to develop a technique for routinely measuring the pressure-saturation curves of soil samples saturated with a nonpolar liquid at different regulated temperatures (b) to build a database using the measured pressure-saturation curves and the physical, chemical properties of the model soils (c) to establish the dependence of nonaqueous phase liquid retention on the soil properties and the temperature. The retention curves (extraction isotherms) with nonaqueous phase liquid were determined using a modified pressure plate extractor. The wetting phase was a non-aromatic hydrocarbon distillation product. Pressure plates were designed and constructed in the laboratory of our department. The temperature was held constant at 20, 40 and 60 C. Statistical analysis was performed involving selected soil parameters and the measured nonaqueous phase liquid retention data. The results show that knowing some easily measurable soil parameters (bulk density, particle size distribution, humus and lime content) we can estimate the nonaqueous phase liquid retention of the soils. The measured “extraction isotherms” provide essential information about the temperature-dependency of pressure-saturation curves.  相似文献   
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