Anne H. Mardy  Shilpa P. Chetty  Mary E. Norton  Teresa N. Sparks 《黑龙江环境通报》2019,39(9):732-750

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   

    

J. S. Rice  R. H. Moss  P. J. Runci  K. L. Anderson  E. L. Malone 《Mitigation and Adaptation Strategies for Global Change》2012,17(7):805-819

A new modeling effort exploring the opportunities, constraints, and interactions between mitigation and adaptation at regional scale is utilizing stakeholder engagement in an innovative approach to guide model development and demonstration, including uncertainty characterization, to effectively inform regional decision making. This project, the integrated Regional Earth System Model (iRESM), employs structured stakeholder interactions and literature reviews to identify the most relevant adaptation and mitigation alternatives and decision criteria for each regional application of the framework. The information is used to identify important model capabilities and to provide a focus for numerical experiments. This paper presents the stakeholder research results from the first iRESM pilot region. The pilot region includes the Great Lakes Basin in the Midwest portion of the United States as well as other contiguous states. This geographic area (14 states in total) permits cohesive modeling of hydrologic systems while also providing strong gradients in climate, demography, land cover/land use, and energy supply and demand. The results from the stakeholder research indicate that, for this region, iRESM should prioritize addressing adaptation alternatives in the water resources, urban infrastructure, and agriculture sectors, including water conservation, expanded water quality monitoring, altered reservoir releases, lowered water intakes, urban infrastructure upgrades, increased electric power reserves in urban areas, and land use management/crop selection changes. For mitigation in this region, the stakeholder research implies that iRESM should focus on policies affecting the penetration of renewable energy technologies, and the costs and effectiveness of energy efficiency, bioenergy production, wind energy, and carbon capture and sequestration.  相似文献   

Fluorescence spectra of coordinated holmium and thulium ions     

G. A. Crosby  R. E. Wham 《Die Naturwissenschaften》1960,47(12):276-277

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Chromgehalt von Heilpflanzen gegen Diabetes mellitus Typ II     

A. Müller  E. Diemann  P. Sassenberg 《Die Naturwissenschaften》1988,75(3):155-156

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Janna Klein Breteler  Jurriaan P. Oudhoff  Janna M. Munster  Jan G. Aarnoudse  Jim E. van Steenbergen  Desirée J. M. A. Beaujean 《黑龙江环境通报》2011,31(8):814-820

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T. Quibel  B. Deloison  F. Chammings  G. E. Chalouhi  N. Siauve  M. Alison  B. Bessières  J. L. Gennisson  O. Clément  L. J. Salomon 《黑龙江环境通报》2015,35(11):1106-1111

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Über Strukturanomalien des Wassers     

G. Dreyer  E. Kahrig  D. Kirstein  J. Erpenbeck  Fr. Lange 《Die Naturwissenschaften》1969,56(11):558-559

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Besprechungen     

G. Kortüm  K. Tamm  E. Manegold  K. Schubert  W. Tollmien  W. Ludwig  G. Melchers  Helmut Metzner  Albrecht Hase  C. Hauenschild  H. v. Witsch  H. Lettré 《Die Naturwissenschaften》1955,42(3):80-84

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M. J. Varas  S. Vicente‐Tavera  E. Molina  J. L. Vicente‐Villardn 《Environmetrics》2005,16(4):405-419

In this work, the canonical biplot (CB) method (Vicente‐Villardón, 1992; Gower and Hand, 1996) is used to determine the origin, distribution, conservation and pollution state of the different types of stones used in the construction and restoration of monuments of great historical interest. The stone materials (sandstones) used in the Cathedral of Ciudad Rodrigo (Salamanca, Spain) have been used to assess the usefulness of the method. The age of this monument (eight centuries), together with the surrounding environmental conditions, have especially contributed to the pollution of the stone masonries, in comparison to the same stones identified in the original quarries. The CB method has allowed us to: (a) identify the sandstone varieties used in the construction; (b) locate the original quarries of these sandstones; (c) locate these materials in the building, and (d) detect the pollution and deterioration affecting the stones in the monument, in comparison to the stones of the original quarries. Copyright © 2005 John Wiley & Sons, Ltd.  相似文献   

Buchbesprechungen     

P. Ramdohr  E. Lamla  G. Lorenzen  G. Höhler  P. Toschek  E. Fitzer  W. Kutzelnigg  L. Jaenicke  D. Gericke  C. Hiller  C. D. K. Cook 《Die Naturwissenschaften》1972,59(6):278-280

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