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781.
We report a fetus with hydrops, congenital heart disease and bilateral radioulnar synostosis caused by a novel pathogenic MECOM variant. The female fetus was referred for post-mortem examination after fetal hydrops and intrauterine death was diagnosed at 20 weeks gestation. Post-mortem examination confirmed fetal hydrops, pallor, truncus arteriosus and bilateral radioulnar synostosis. Trio whole genome sequencing analysis detected a novel de novo heterozygous pathogenic loss-of-function variant in MECOM (NM_004991), associated with a diagnosis of Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2 (RUSAT-2). RUSAT-2 is a variable condition associated postnatally with bone marrow failure, radioulnar synostosis and congenital anomalies. RUSAT-2 is not currently associated with a prenatal phenotype or fetal demise, and was not present on diagnostic NHS prenatal gene panels at time of diagnosis. This case highlights the diagnostic value of detailed phenotyping with post-mortem examination, and of using a broad sequencing approach. 相似文献
782.
783.
Fumian Tulio Machado Ferreira Fernando César de Andrade Juliana da Silva Ribeiro Canal Natália Silva Gomes Gabriela Teixeira Lilian Borges Miagostovich Marize Pereira 《Food and environmental virology》2021,13(4):553-559
Food and Environmental Virology - Norovirus is a major cause of foodborne-associated acute gastroenteritis (AGE) outbreaks worldwide. Usually, food products are contaminated either during... 相似文献
784.
Silva Marcio Roberto Ferreira Fernando César Maranhão Adriana Gonçalves Lanzarini Natália Maria de Carvalho Castro Karina Neboo Miagostovich Marize Pereira 《Food and environmental virology》2021,13(4):528-534
Food and Environmental Virology - Enteric viruses have been described as important contaminants in fresh and ready-to-eat foods such as sandwiches, deli meat and dairy products. This is a... 相似文献
785.
The leachability of some metals (Al, As, Ba, Ca, Cr, Cu, Fe, K, Mg, Mn, Ti, Zn) from fly ashes was studied in the presence of ethylenediamine tetraacetic acid (EDTA) and naturally occurring complexing agents-humic acids (HAs). Secondary complex-forming equilibria taking place in the leachates increase significantly the leached amounts of most metals. Kinetic experiments showed that almost the whole "available" amounts of metals are leached from fly ash within a time period of several hours (mostly within 20 h), with exceptions of matrix constituents (typically aluminium), which are released more slowly. 相似文献
786.
Schirmer Waldir Nagel Stroparo Erivelton César Gueri Matheus Vitor Diniz Capanema Marlon André Mazur Douglas Luiz Jucá José Fernando Thomé Martins Kelly Geronazzo 《Journal of Material Cycles and Waste Management》2022,24(5):2041-2053
Journal of Material Cycles and Waste Management - Biofilters have been recognized as a key technology in the mitigation of greenhouse gases (GHG) emitted by landfills. This study aimed to evaluate... 相似文献
787.
Drivers and barriers to successful solid waste management: assessing through an aggregated indicator
Deus Rafael Mattos Esguícero Fábio José Battistelle Rosane Aparecida Gomes Jugend Daniel 《Journal of Material Cycles and Waste Management》2022,24(4):1476-1484
Journal of Material Cycles and Waste Management - Solid waste management is the main topic of the circular economy and remains a challenge for public management, because despite the recent economic... 相似文献
788.
Guimarães Tábata C. Araújo Everton S. Hernández-Macedo María Lucila López Jorge A. 《Journal of Polymers and the Environment》2022,30(7):2669-2684
Journal of Polymers and the Environment - In recent decades, the global accumulation of plastics and the resulting pollution, as well as the increase in the price of oil, have driven studies aimed... 相似文献
789.
Cristea Adorján Pustan Marius Bîrleanu Corina Dudescu Cristian Floare Călin Gabriel Tripon Andreea-Melisa Banciu Horia Leonard 《Journal of Polymers and the Environment》2022,30(1):424-430
Journal of Polymers and the Environment - Poly(3-hydroxybutyrate) (PHB) is a natural and biodegradable polyester which represents an alternative to replace conventional plastics in the packaging... 相似文献
790.
Soares Jéssica Maria Alexandre da Silva Júnior Elenildo Dário Oliveira de Veras Bruno Yara Ricardo de Albuquerque Priscilla Barbosa Sales de Souza Marthyna Pessoa 《Journal of Polymers and the Environment》2022,30(1):217-231
Journal of Polymers and the Environment - Bioactive biodegradable films are emerging biomaterials in the food packaging field. This study aims to investigate the effect of different Cenostigma... 相似文献