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Françoise Muller Corinne Sault Catherine Lemay Nathalie Roussel-Mizon François Forestier Jean-Louis Frendo 《黑龙江环境通报》2002,22(7):605-608
Trisomy 21 maternal serum marker screening has led to screening for other anomalies, including trisomy 18. Trisomy 18 is generally prenatally diagnosed because of major morphological defects. However, in up to 30% of cases ultrasound signs are unclear, and in most cases diagnosis is performed late in pregnancy. Of the different maternal serum markers, PAPP-A is now considered as the best for trisomy 18 screening. However, pregnancy-associated plasma protein A (PAPP-A) is of value in first trimester screening for trisomy 21, but not in the second trimester. We therefore propose a two-step screening strategy. Based on 45 trisomy 18 cases, we confirm the values of alpha-fetoprotein (AFP) (median 0.61 MoM), free β-human chorionic gonadotrophin (β-hCG) (median 0.24 MoM) and of PAPP-A (median 0.08 MoM). In the first step, a 0.5 MoM cut-off for AFP or for free β-hCG resulted in detection of 37/45 trisomy 18 cases (82%) with a 10% false-positive rate. The second step consisted of the measurement of PAPP-A for all these false-positive cases. Using a PAPP-A cut-off of 0.5 MoM, all the 37 trisomy 18 cases were detected, but now with a 0.1–0.2% false-positive rate. Amniocentesis was only offered to these few patients. This two-step second trimester screening will be of value for patients who have not been included in first trimester screening based on nuchal translucency (NT) measurement combined with the first trimester markers, PAPP-A and free β-hCG. Copyright © 2002 John Wiley & Sons, Ltd. 相似文献
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Sustainable development is now widely accepted as a policy framework in planning and development both internationally and in South Africa. Within this framework, technocentric scientific approaches to environmental management, which are reflective of weak ecological modernization, have dominated environmental practice both in the developed and developing world. South Africa is a country in transition and as a result environmental law and policy have undergone significant reform. However, implementation and practice remains embedded within a weak ecological modernization approach. Through the lens of two case studies reflecting changing approaches and practices within state institutions, this paper explores the shifts taking place in the construction, adaptation and application of policy frameworks and tools used in the drive towards sustainability in South Africa. The research uses critical approaches to ecological modernization (Hajer, 1995; Christoff, 1996) and deliberative policy analysis (Hajer and Wagenaar, 2003; Hajer, 2003, 2003; Hajer, 2004) to explore these shifts. It suggests that the shift towards strong ecological modernization has taken place as a result of the adaptation of international practice to the South Africa context, the global acceptance of more integrated approaches, the opportunities for change that 'institutional ambiguity' and 'multi-signification' create, and pockets of innovation that have developed when intellectual actors shift the boundaries of environmental practice. 相似文献
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Plasma‐torch technology has excellent potential for cost‐effective treatment of contaminated soils and other types of buried waste material. This article describes the evolution and basic features of this technology, with emphasis on the non‐transferred plasma arc torch. In addition, selected results from both laboratory experiments and field demonstrations will show how this technology can successfully destroy hazardous/toxic materials and/or stabilize contaminants in situ so they are no longer a threat to human health and the environment. © 2001 John Wiley & Sons, Inc. 相似文献
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Pascal Gaucherand Chantal Vavasseur-Monot Elizabeth Ollagnon Catherine Boisson Jean-Marc Labaune Thierry Basset George Yared 《黑龙江环境通报》2002,22(11):1048-1050
McKusick-Kaufman syndrome (MKKS) is a rare autosomal recessive genetic disease with classical hexadactyly and hydrocolpos in females and sometimes cardiac abnormality. We report such a case diagnosed just before birth with a favourable outcome. From this case we describe and discuss all the prenatal sonographic signs which are not always present. On the genetic side, the gene has recently been localized together with the mutation responsible for MKKS. The phenotypic relationship between MKKS which has a good prognosis and Bardet-Biedl syndrome (BBS) with a worse prognosis requires great caution before diagnosing MKKS and a long follow-up is necessary to recognize obesity, growth retardation and pigmentary retinitis. Copyright © 2002 John Wiley & Sons, Ltd. 相似文献
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Catherine M. Marquette Kwame A. Koranteng Ragnhild Overa Ellen Bortei-Doku Aryeetey 《Ambio-人类环境杂志》2002,31(4):324-336
我们研究莫里的人口动态和渔业资源的开发和持续利用问题.莫里是加纳中部靠近海岸角的一个有2万人口的以捕鱼为生的小镇.莫里的情况说明人口动态和渔业资源之间的关系要比"马尔萨斯过度捕捞说"复杂得多.这其中的原因包括:西非沿岸上升流不断变化的生物物理特征;全年中捕捞活动性质和数量上的变化;市场状况和鱼产品的异地需求;捕捞活动有规律的迁移以及规范当地和迁移目的地渔业资源使用的制度.莫里的人口和资源的关系可能是渔业资源和经济变化影响了人口迁移而不是人口压力影响了渔业资源.渔业管理政策必须考虑当地渔民影响之外的过程和因素. 相似文献
460.
Laurence Faivre Thierry Rousseau Nicole Laurent Philippe Gosset Damien Sanlaville Christel Thauvin-Robinet Véronica Cusin Stéphanie Lionnais Patrick Callier Philippe Khau Van Kien Frédéric Huet Catherine Turleau Paul Sagot Francine Mugneret 《黑龙江环境通报》2004,24(5):393-395
Overgrowth is rarely associated with chromosomal imbalances. Here, we report on a male foetus presenting with overgrowth and additional material on the short arm of one of the chromosome 15 in 12% of lymphocytes and 50% of amniotic cells. Parents' karyotypes were normal, indicating a de novo origin for this unbalanced rearrangement. Complementary studies using cytogenetic and FISH studies showed that this additional material resulted in a 15q25-qter trisomy and confirmed the presence of three copies of the insulin-like growth factor 1 receptor (IGF1R) gene, included in the trisomic region. Autopsy performed after termination of pregnancy revealed isolated overgrowth and absence of visceral malformations. The possible mechanisms and origins for the formation of this mosaic pure trisomy are complex. The present observation emphasises the hypothesis that the overgrowth phenotype, frequently reported in patients with trisomy including the 15q26 region, might be causally related to a dosage effect of the IGF1R gene, as well as the importance of chromosome analysis in patients with overgrowth. It also confirms that the overgrowth is of prenatal onset in those observations. Copyright © 2004 John Wiley & Sons, Ltd. 相似文献