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.     

Qualität und Verwertungsmöglichkeiten von Holzaschen aus naturbelassenen Hölzern

Background, aim and scope The increasing use of wood for generating heat and electricity requires that more and more fuels be obtained directly or indirectly from the forest. Sound, sustainable recycling management calls for the return of any generated wood ash back to the forest to make use of the nutrients it contains. Similarly, recycling this ash in other locations such as agricultural land or private gardens can serve equally well as fertilizer. At the same time, it is critical that no accumulated pollutants be introduced into the nutrient loop. Wood ash that is heavily laden with such pollutants must not be considered for recycling. As part of this research project, commissioned by the Ministry for the Environment and Conservation, Agriculture and Consumer Protection of the State of North Rhine-Westphalia in Germany (MUNLV), ash samples of 209 wood-fired appliances generating between 10 and 4000?kW of heat performance were taken from throughout the federal state of North Rhine-Westphalia. Untreated wood, either forested or scrap, was used as the sole fuel for these appliances. Materials and methods All course ash and fly ash samples were analyzed to determine their composition of main nutrients, heavy metals, and the elements Fe, Cl, Si, Al and Na. The purpose of this analysis was to evaluate the suitability of this wood ash for reintroduction to forest soils or as fertilizer in other types of soil. Results The majority of the wood ash samples in this study contained sufficiently high amounts of nutrients to match the requirement for stand-alone fertilizers (PK-fertilizer, potash fertilizer). However, the heavy metal content was highly variable, with a mean content high enough to prohibit them from being classified per se as PK- or potash fertilizer for agricultural land. Due to the high quantities of cadmium, application of this ash to garden soils would likewise be ill-advised. Discussion On forest soils German law permits application of a mixture of potash fertilizer containing, at most, 30?% wood ash (course ash). Because of the high amounts of cadmium and copper, wood ash from our samples can only comprise a maximum of 28?% when added to typically used potash fertilizers. Higher percentage of wood ash would exceed the cut-off value established by the German Fertilizer Ordinance (Düngemittelverordnung – DüMV). Conclusions The application of wood ash on agricultural land and in private gardens is, rightfully so, highly regulated by law. However, the rules governing application of wood ash in the forest are much more lax. Determination of heavy metal content in wood ash cannot be used to determine compliance with DüMV standards because of the high content and fluctuating nature of heavy metals found. Recommendations and perspectives Presently an alternative approach for classifying the ecologic risk of wood ash recycling is being developed.     

Fluorides in groundwater and its impact on health

Fluoride is a naturally occurring toxic mineral present in drinking water and causes yellowing of teeth, tooth problems etc. Fluorspar, Cryolite and Fluorapatite are the naturally occurring minerals, from which fluoride finds its path to groundwater through infiltration. In the present study two groundwater samples, Station I and Station II at Hyderabad megacity, the capital of Andhra Pradesh were investigated for one year from January 2001 to December 2001. The average fluoride values were 1.37 mg/l at Station I and 0.91 mg/l at Station II. The permissible limit given by BIS (1983) 0.6-1.2 mg/l and WHO (1984) 1.5 mg/l for fluoride in drinking water. The groundwaters at Station I exceeded the limit while at Station II it was within the limits. The study indicated that fluoride content of 0.5 mg/l is sufficient to cause yellowing of teeth and dental problems.     

Biomonitoring perfluorinated compounds in Catalonia,Spain: concentrations and trends in human liver and milk samples

Background, aim and scope  

Perfluorinated compounds (PFCs) are global environmental pollutants that bioaccumulate in wildlife and humans. Laboratory experiments have revealed toxic effects such as delayed development, humoral suppression, and hepatotoxicity. Although numerous human blood levels have been reported, little is known about distribution in the human body. Knowledge about PFC distribution and accumulation in the human body is crucial to understanding uptake and subsequent effects as well as to conduct risk assessments. The present study reports PFC levels in human liver and breast milk from a general population living in Catalonia, Spain. Liver and milk levels are compared to previously reported levels in blood from the same geographic area as well as to other existing reports on human liver and milk levels in other countries.     

Nitrogen deposition effects on Mediterranean-type ecosystems: an ecological assessment

We review the ecological consequences of N deposition on the five Mediterranean regions of the world. Seasonality of precipitation and fires regulate the N cycle in these water-limited ecosystems, where dry N deposition dominates. Nitrogen accumulation in soils and on plant surfaces results in peaks of availability with the first winter rains. Decoupling between N flushes and plant demand promotes losses via leaching and gas emissions. Differences in P availability may control the response to N inputs and susceptibility to exotic plant invasion. Invasive grasses accumulate as fuel during the dry season, altering fire regimes. California and the Mediterranean Basin are the most threatened by N deposition; however, there is limited evidence for N deposition impacts outside of California. Consequently, more research is needed to determine critical loads for each region and vegetation type based on the most sensitive elements, such as changes in lichen species composition and N cycling.     

Risk estimation to human health caused by the mercury content of Sushi and Sashimi sold in Japanese restaurants in Brazil

Although fish is a healthy alternative for meat, it can be a vehicle for mercury (Hg), including in its most toxic organic form, methylmercury (MeHg). The objective of the present study was to estimate the risk to human health caused by the consumption of sushi and sashimi as commercialized by Japanese food restaurants in the city of Campinas (SP, Brazil). The total Hg content was determined by atomic absorption spectrometry with thermal decomposition and amalgamation, and the MeHg content calculated considering that 90% of the total Hg is in the organic form. The health risk was estimated from the values for the provisional tolerable weekly ingestion (PTWI) by both adults and children. The mean concentrations for total Hg were: 147.99, 6.13, and 3.42 µg kg^?1 in the tuna, kani, and salmon sushi samples, respectively, and 589.09, 85.09, and 11.38 µg kg^?1 in the tuna, octopus and salmon sashimi samples, respectively. The tuna samples showed the highest Hg concentrations. One portion of tuna sashimi exceeded the PTWI value for MeHg established for children and adults. The estimate of risk for human health indicated that the level of toxicity depended on the type of fish and size of the portion consumed.     

The exposition of a calcareous Mediterranean soil to toxic concentrations of Cr, Cd and Pb produces changes in the microbiota mainly related to differential metal bioavailability

The involvement of the bacterial community of an agricultural Mediterranean calcareous soil in relation to several heavy metals has been studied in microcosms under controlled laboratory conditions. Soil samples were artificially polluted with Cr(VI), Cd(II) and Pb(II) at concentrations ranging from 0.1 to 5000 mg kg⁻¹ and incubated along 28 d. The lowest concentrations with significant effects in soil respirometry were 10 mg kg⁻¹ Cr and 1000 mg kg⁻¹ Cd and Pb. However, only treatments showing more than 40% inhibition of respirometric activity led to significant changes in bacterial composition, as indicated by PCR-DGGE analyses. Presumable Cr- and Cd-resistant bacteria were detected in polluted microcosms, but development of the microbiota was severely impaired at the highest amendments of both metals. Results also showed that bioavailability is an important factor determining the impact of the heavy metals assayed, and even an inverted potential toxicity ranking could be achieved if their soluble fraction is considered instead of the total concentration. Moreover, multiresistant bacteria were isolated from Cr-polluted soil microcosms, some of them showing the capacity to reduce Cr(VI) concentrations between 26% and 84% of the initial value. Potentially useful strains for bioremediation were related to Arthrobacter crystallopoietes, Stenotrophomonas maltophilia and several species of Bacillus.     

High chrome exhaustion in a non-float tanning process using a sulphonic aromatic acid

Tanning processes performed in drums consume large amounts of water and chemicals, most of which end up in the wastewater. This study explores an alternative approach at an industrial scale to the traditional pickle-chrome tanning method. The new method replaces formic and sulphuric acids with sulphonic aromatic acid. Because it is done without float, there is a sizeable reduction in the amount of added salt and chrome salt as well as an increase in temperatures at the end of the tanning process. From an environmental perspective, the new method offers important advantages. For instance, there is no float addition in the tannage. Also, there are reductions of 94% and 99%, respectively, in the discharge of chlorides and chrome, as well as a 75% reduction in the residual float. Our financial assessment demonstrated that the new method is 42% cheaper than a traditional approach.     

Minimization of the environmental impact in the unhairing of bovine hides

This study tests an alternative method to the traditional unhairing method used during the process of tanning the hides. The new method is based on the substitution of sodium sulfide by hydrogen peroxide as an unhairing agent in both hair recovery and recirculation of the floats employed in the process. The properties of the hides obtained using the two methods have been compared and the results indicate that those hides have similar physical, chemical, and organoleptic properties. However, the differences existing from an environmental point of view are significant. These include reductions of water consumption (approx 70%), chemical oxygen demand (approx 35%), toxicity (98%) and total kjendhal nitrogen (50%). Also, the risk associated with the production of hydrogen sulfide is eliminated, which implies a great improvement in terms of safety for the workers. Given the large amounts of water and chemical pollution discharged in the process, the reductions in absolute values represent a significant improvement. A financial assessment was carried out to demonstrate that the proposed new system is 16% more economic than the traditional one.     

Juggling work and family responsibilities when involuntarily working more from home: A multiwave study of financial sales professionals

Using multiwave survey data collected among 251 financial sales professionals, we tested whether involuntarily working more from home (teleworking) was related to higher time‐based and strain‐based work‐to‐family conflict (WFC). Employees' boundary management strategy (integration vs. segmentation) and work–family balance self‐efficacy were considered as moderators of these relationships. Data were collected one month before, three months after, and 12 months after the implementation of a new cost‐saving policy that eliminated employees' access to office space in a centralized work location. The policy resulted in employees being forced to work more from home. A voluntary telework program had been in effect before the new policy, implying that working more from home as a result of the new policy was involuntary in nature. Results revealed that involuntarily working more from home was associated with higher strain‐based WFC but not higher time‐based WFC. However, moderator analyses revealed that the positive association between involuntarily working more from home and both types of WFC was significantly stronger among employees with weaker self‐efficacy in balancing work and family. Boundary management strategy had no detectable moderating effect. Copyright © 2015 John Wiley & Sons, Ltd.