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A wide spectrum of genetic causes may lead to nonimmune hydrops fetalis (NIHF), and a thorough phenotypic and genetic evaluation are essential to determine the underlying etiology, optimally manage these pregnancies, and inform discussions about anticipated prognosis. In this review, we outline the known genetic etiologies of NIHF by fetal organ system affected, and provide a systematic approach to the evaluation of NIHF. Some of the underlying genetic disorders are associated with characteristic phenotypic features that may be seen on prenatal ultrasound, such as hepatomegaly with lysosomal storage disorders, hyperechoic kidneys with congenital nephrosis, or pulmonary valve stenosis with RASopathies. However, this is not always the case, and the approach to evaluation must include prenatal ultrasound findings as well as genetic testing and many other factors. Genetic testing that has been utilized for NIHF ranges from standard chromosomal microarray or karyotype to gene panels and broad approaches such as whole exome sequencing. Family and obstetric history, as well as pathology examination, can yield additional clues that are helpful in establishing a diagnosis. A systematic approach to evaluation can guide a more targeted approach to genetic evaluation, diagnosis, and management of NIHF. 相似文献
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Effectiveness of Voluntary Conservation Agreements: Case Study of Endangered Whales and Commercial Whale Watching 总被引:2,自引:0,他引:2
DAVID N. WILEY†† JUST C. MOLLER RICHARD M. PACE III † CAROLE CARLSON‡§ 《Conservation biology》2008,22(2):450-457
Abstract: The use of voluntary approaches to achieve conservation goals is becoming increasingly popular. Nevertheless, few researchers have quantitatively evaluated their efficacy. In 1998 industry, government agencies, and nongovernmental organizations established a voluntary conservation program for whale watching in the northeast region of the United States, with the intent to avoid collisions with and harassment of endangered whales by commercial and recreational whale‐watching vessels. One important aspect of the program was the establishment of 3 speed zones within specific distances of whales. We wanted to determine the level of compliance with this aspect of the program to gauge its efficacy and gain insights into the effectiveness of voluntary measures as a conservation tool. Inconspicuous observers accompanied 46 commercial whale‐watching trips from 12 companies in 2003 (n= 35) and 2004 (n= 11). During each trip, vessel position and speed were collected at 5‐second intervals with a GPS receiver. Binoculars with internal laser rangefinders and digital compasses were used to record range and bearing to sighted whales. We mapped whale locations with ArcGIS. We created speed‐zone buffers around sighted whales and overlaid them with vessel‐track and speed data to evaluate compliance. Speeds in excess of those recommended by the program were considered noncompliant. We judged the magnitude of noncompliance by comparing a vessel's maximum speed within a zone to its maximum recorded trip speed. The level of noncompliance was high (mean 0.78; company range 0.74–0.88), some companies were more compliant than others (p= 0.02), noncompliance was significantly higher in zones farther from whales (p < 0.001), and operators approached the maximum speed capabilities of their vessel in all zones. The voluntary conservation program did not achieve the goal of substantially limiting vessel speed near whales. Our results support the need for conservation programs to have quantifiable metrics and frequent evaluation to ensure efficacy. 相似文献
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Residues of cypermethrin and deltamethrin in wheat herbage and grain and deltamethrin in sweetclover herbage were determined. Cypermethrin was applied at 28 g/ha to wheat and the residues on the herbage declined exponentially from 3.74 ppm immediately after spraying to 0.20 ppm 27 days after spraying. No cypermethrin residues were detected in the grain. Deltamethrin was applied at 6 g/ha to wheat and the residues on the herbage declined exponentially from 0.70 ppm immediately after spraying to 0.05 ppm 27 days after spraying. No deltamethrin residues were detected in the grain. Deltamethrin was applied to sweetclover at 3, 4, 5, 10, and 16 g/ha. Residues on the herbage declined exponentially from 0.10, 0.16, 0.22, 0.40 and 0.70 ppm immediately after spraying to 0.02, 0.03, 0.04, 0.15 and 0.18 ppm 5 days after spraying, respectively. 相似文献
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