Fetal hydrops caused by a novel pathogenic MECOM variant

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.     

Norovirus Foodborne Outbreak Associated With the Consumption of Ice Pop,Southern Brazil, 2020

Food and Environmental Virology - Norovirus is a major cause of foodborne-associated acute gastroenteritis (AGE) outbreaks worldwide. Usually, food products are contaminated either during...     

Assessment of Viral Contamination of Five Brazilian Artisanal Cheese Produced from Raw Milk: a Randomized Survey

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...     

Leaching of metals from fly ashes in the presence of complexing agents

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.     

Biofiltration of fugitive methane emissions from landfills using scum from municipal wastewater treatment plants as alternative substrate

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...     

Drivers and barriers to successful solid waste management: assessing through an aggregated indicator

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...     

Polyhydroxyalkanoates: Biosynthesis from Alternative Carbon Sources and Analytic Methods: A Short Review

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...     

Mechanical Evaluation of Solvent Casted Poly(3-hydroxybutyrate) Films Derived from the Storage Polyesters Produced by Halomonas elongata DSM 2581T

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...     

Active Biodegradable Film Based on Chitosan and Cenostigma Nordestinum' Extracts for Use in the Food Industry

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...