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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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Could wastewater analysis be a useful tool for China? — A review 总被引:1,自引:0,他引:1
Jianfa Gao Jake O''Brien Foon Yin Lai Alexander L.N. van Nuijs Jun He Jochen F. Mueller Jingsha Xu Phong K. Thai 《环境科学学报(英文版)》2015
Analysingwastewater samples is an innovative approach that overcomesmany limitations of traditional surveys to identify and measure a range of chemicals that were consumed by or exposed to people living in a sewer catchment area. First conceptualised in 2001, much progress has been made to make wastewater analysis (WWA) a reliable and robust tool for measuring chemical consumption and/or exposure. At the moment, the most popular application of WWA, sometimes referred as sewage epidemiology, is to monitor the consumption of illicit drugs in communities around the globe, including China. The approach has been largely adopted by lawenforcement agencies as a device tomonitor the temporal and geographical patterns of drug consumption. In the future, themethodology can be extended to other chemicals including biomarkers of population health (e.g. environmental or oxidative stress biomarkers, lifestyle indicators or medications that are taken by different demographic groups) and pollutants that people are exposed to (e.g. polycyclic aromatic hydrocarbons, perfluorinated chemicals, and toxic pesticides). The extension of WWA to a huge range of chemicals may give rise to a field called sewage chemical-information mining (SCIM) with unexplored potentials. China has many densely populated cities with thousands of sewage treatment plants which are favourable for applying WWA/SCIM in order to help relevant authorities gather information about illicit drug consumption and population health status. However, there are some prerequisites and uncertainties of the methodology that should be addressed for SCIM to reach its full potential in China. 相似文献