Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging

Objective

The purpose of this study was to explore the diagnostic yield and clinical utility of trio-based rapid whole exome sequencing (rWES) in pregnancies of fetuses with a wide range of congenital anomalies detected by ultrasound imaging.

Methods

In this observational study, we analyzed the first 54 cases referred to our laboratory for prenatal rWES to support clinical decision making, after the sonographic detection of fetal congenital anomalies. The most common identified congenital anomalies were skeletal dysplasia (n = 20), multiple major fetal congenital anomalies (n = 17) and intracerebral structural anomalies (n = 7).

Results

A conclusive diagnosis was identified in 18 of the 54 cases (33%). Pathogenic variants were detected most often in fetuses with skeletal dysplasia (n = 11) followed by fetuses with multiple major fetal congenital anomalies (n = 4) and intracerebral structural anomalies (n = 3). A survey, completed by the physicians for 37 of 54 cases, indicated that the rWES results impacted clinical decision making in 68% of cases.

Conclusions

These results suggest that rWES improves prenatal diagnosis of fetuses with congenital anomalies, and has an important impact on prenatal and peripartum parental and clinical decision making.     

Variation of surface ozone in Campo Grande,Brazil: meteorological effect analysis and prediction

The effect of meteorological variables on surface ozone (O₃) concentrations was analysed based on temporal variation of linear correlation and artificial neural network (ANN) models defined by genetic algorithms (GAs). ANN models were also used to predict the daily average concentration of this air pollutant in Campo Grande, Brazil. Three methodologies were applied using GAs, two of them considering threshold models. In these models, the variables selected to define different regimes were daily average O₃ concentration, relative humidity and solar radiation. The threshold model that considers two O₃ regimes was the one that correctly describes the effect of important meteorological variables in O₃ behaviour, presenting also a good predictive performance. Solar radiation, relative humidity and rainfall were considered significant for both O₃ regimes; however, wind speed (dispersion effect) was only significant for high concentrations. According to this model, high O₃ concentrations corresponded to high solar radiation, low relative humidity and wind speed. This model showed to be a powerful tool to interpret the O₃ behaviour, being useful to define policy strategies for human health protection regarding air pollution.     

Coupled pot and lysimeter experiments assessing plant performance in microbially assisted phytoremediation

We performed an experiment at pot scale to assess the effect of plant growth-promoting bacteria (PGPB) on the development of five plant species grown on a tailing dam substrate. None of the species even germinated on inoculated unamended tailing material, prompting use of compost amendment. The effect of inoculation on the amended material was to increase soil respiration, and promote elements immobilisation at plant root surface. This was associated with a decrease in the concentrations of elements in the leaching water and an increase of plant biomass, statistically significant in the case of two species: Agrostis capillaris and Festuca rubra. The experiment was repeated at lysimeter scale with the species showing the best development at pot scale, A. capillaris, and the significant total biomass increase as a result of inoculation was confirmed. The patterns of element distribution in plants also changed (the concentrations of metals in the roots of A. capillaris and F. rubra significantly decreased in inoculated treatments, while phosphorus concentration significantly increased in roots of A. capillaris in inoculated treatment at lysimeter scale). Measured variables for plant oxidative stress did not change after inoculations. There were differences of A. capillaris plant–soil system response between experimental scales as a result of different substrate column structure and plant age at the sampling moment. Soil respiration was significantly larger at lysimeter scale than at pot scale. Leachate concentrations of As, Mn and Ni had significantly larger concentrations at lysimeter scale than at pot scale, while Zn concentrations were significantly smaller. Concentrations of several metals were significantly smaller in A. capillaris at lysimeter scale than at pot scale. From an applied perspective, a system A. capillaris—compost—PGPB selected from the rhizosphere of the tailing dam native plants can be an option for the phytostabilisation of tailing dams. Results should be confirmed by investigation at field plot scale.     

The impact of the board of directors on business climate change management: case of Brazilian companies

Mitigation and Adaptation Strategies for Global Change - The corporate sector is one of the main emitters in the world due to the production process and therefore is identified as a major...     

The impact of Six Sigma in the performance of a Pollution Prevention program

The diffusion of Pollution Prevention faces organizational barriers as for instance resistance to change, insufficient support from decision-makers, unclear project leadership, insufficient employee accountability and inflexible organizational structures. To understand how to overcome such barriers, the performance of a Pollution Prevention program of a multinational corporation is analyzed. The quantitative analyses of 2096 Pollution Prevention projects conducted between 1995 and 2007 support the conclusion that the performance of the Pollution Prevention program increased after the implementation of the Six Sigma program. Moreover, the analyses of 1906 Pollution Prevention projects and 31,133 Six Sigma projects for cost reduction in 27 countries indicate that in countries where the implementation of Six Sigma is more expressive, pollution is prevented more than in countries with less expressive Six Sigma implementation. In fact, the Six Sigma implementation improved the organizational capability for data based project management. Therefore, comparing six years before and six years after the Six Sigma implementation, the total number of Pollution Prevention projects recognized increased 6.9 times and the total amount of pollution prevented increased by 62%. The qualitative analysis describes how the Six Sigma program interacts with the Pollution Prevention program in the studied company.     

Occurrence of Human Enteric Viruses in Commercial Mussels at Retail Level in Three European Countries

In this study, the prevalence of different enteric viruses in commercial mussels was evaluated at the retail level in three European countries (Finland, Greece and Spain). A total of 153 mussel samples from different origins were analysed for human norovirus (NoV) genogroups I and II, hepatitis A virus (HAV) and hepatitis E virus (HEV). Human adenovirus (HAdV) was also tested as an indicator of human faecal contamination. A full set of controls (such as sample process control, internal amplification controls, and positive and negative controls) were implemented during the process. The use of a sample process control allowed us to calculate the efficiencies of extraction, which ranged from 79 to 0.5?%, with an average value of 10?%. Samples were positive in 41?% of cases, with HAdV being the most prevalent virus detected (36?%), but no significant correlation was found between the presence of HAdV and human NoV, HAV and HEV. The prevalences of human norovirus genogroup II, HEV and human NoV genogroup I were 16, 3 and 0.7?%, respectively, and HAV was not detected. The estimated number of PCR detectable units varied between 24 and 1.4?×?10³?g^?1 of digestive tract. Interestingly, there appeared to be a significant association between the type of mussel species (M. galloprovincialis) and the positive result of samples, although a complete overlap between country and species examined required this finding to be confirmed including samples of both species from all possible countries of origin.     

Mitigation of energy intensity of an industrial off-gas cleaning system using process engineering solutions

In smelting processes, a large amount of off-gas emission is often generated, which can cause serious environmental and plant hygiene problems if not properly treated. Off-gas cleaning systems extract and treat the hazardous emissions, and ensure that the smelter operation is in accordance with environmental and industrial hygiene regulations. To this end, it is paramount that a well-designed control structure be incorporated into the system. In this work a plantwide control design procedure is applied to an industrial nickel smelter furnace off-gas cleaning system. We first approach the problem by conducting a steady-state analysis based on a nonlinear model of the process, where the objective is to determine how to achieve safe, clean and economic operation in terms of energy consumption. Results reveal that a large amount of energy can be saved by controlling the temperature in the furnace freeboard at its upper bound (active constraint). For the same reason, the temperatures in the two louvers (active constraints) should be controlled at their respective upper bounds so to minimize air intake into the system. The selection of the “unconstrained” variable to be controlled is found by applying the self-optimizing control technique, and the results indicate that a small loss is acceptable when one of the manipulated variables is fixed at its nominal optimal operating point, a highly desirable choice from an operational viewpoint. The bottleneck of the system is identified as the fans' discharge pressures when we allow the feed rate as a degree of freedom. Furthermore, a design change consisting of the installation of an auxiliary air intake in the smelter furnace shows to be a very effective economic alternative to minimize energy consumption. A control structure is then designed where the issue is to keep pressures in the system well within the negative region by determining the configuration of the regulatory and supervisory control layers such that acceptable dynamic performance in face of known, deterministic disturbance is achieved. Nonlinear dynamic simulations are performed to validate the suggested control structure for both modes of operation in the original system and in the proposed design change. The results showed that both regulatory and supervisory designs should make use of the simplicity of decentralized PI control schemes associated with some cascaded configurations so as to boost the disturbance rejection capabilities of the system.