Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders

Pathogenic variants in KCNA2, encoding for the voltage-gated potassium channel K_v1.2, have been identified as the cause for an evolving spectrum of neurological disorders. Affected individuals show early-onset developmental and epileptic encephalopathy, intellectual disability, and movement disorders resulting from cerebellar dysfunction. In addition, individuals with a milder course of epilepsy, complicated hereditary spastic paraplegia, and episodic ataxia have been reported. By analyzing phenotypic, functional, and genetic data from published reports and novel cases, we refine and further delineate phenotypic as well as functional subgroups of KCNA2-associated disorders. Carriers of variants, leading to complex and mixed channel dysfunction that are associated with a gain- and loss-of-potassium conductance, more often show early developmental abnormalities and an earlier onset of epilepsy compared to individuals with variants resulting in loss- or gain-of-function. We describe seven additional individuals harboring three known and the novel KCNA2 variants p.(Pro407Ala) and p.(Tyr417Cys). The location of variants reported here highlights the importance of the proline(405)–valine(406)–proline(407) (PVP) motif in transmembrane domain S6 as a mutational hotspot. A novel case of self-limited infantile seizures suggests a continuous clinical spectrum of KCNA2-related disorders. Our study provides further insights into the clinical spectrum, genotype–phenotype correlation, variability, and predicted functional impact of KCNA2 variants.     

Genetic Dissection of Phosphorus Use Efficiency in a Maize Association Population under Two P Levels in the Field

Phosphorus (P) deficiency is an important challenge the world faces while having to increase crop yields. It is therefore necessary to select maize (Zea may L.) genotypes with high phosphorus use efficiency (PUE). Here, we extensively analyzed the biomass, grain yield, and PUE-related traits of 359 maize inbred lines grown under both low-P and normal-P conditions. A significant decrease in grain yield per plant and biomass, an increase in PUE under low-P condition, as well as significant correlations between the two treatments were observed. In a genome-wide association study, 49, 53, and 48 candidate genes were identified for eleven traits under low-P, normal-P conditions, and in low-P tolerance index (phenotype under low-P divided by phenotype under normal-P condition) datasets, respectively. Several gene ontology pathways were enriched for the genes identified under low-P condition. In addition, seven key genes related to phosphate transporter or stress response were molecularly characterized. Further analyses uncovered the favorable haplotype for several core genes, which is less prevalent in modern lines but often enriched in a specific subpopulation. Collectively, our research provides progress in the genetic dissection and molecular characterization of PUE in maize.     

Analysis and optimization of a cogeneration system based on biomass combustion

The paper deals with analysis and optimization of the performance of the combustion process in a biomass furnace at a biomass cogeneration plant. For the purpose a thermodynamic model for the biomass burning process in a grate furnace was developed. The mathematical model describes both, the thermal decomposition of the fuel on the grate as well as gas phase combustion in the secondary zone. The presented approach is based on energy equations for each individual step of the biomass combustion process.Measurement results from a biomass-fired cogeneration plant were used to validate the model. Comparison between simulation and measurement results shows good agreement. The model predicts accurately the temperature profiles in the combustion chamber.The presented approach is suitable for model based analysis and optimization of control strategies. The developed model was used to optimize the performance of the recirculation system of the combustion appliance. The simulation based analysis showed, that the flow rate of the recirculated exhaust fumes can be significantly reduced which results in energy savings of 17% of the auxiliary electrical power demand.     

Biomass gasification cogeneration – A review of state of the art technology and near future perspectives

Biomass is a renewable resource from which a broad variety of commodities can be produced. However, the resource is scarce and must be used with care to avoid depleting future stock possibilities. Flexibility and efficiency in production are key characteristics for biomass conversion technologies in future energy systems. Thermal gasification of biomass is proved throughout this article to be both highly flexible and efficient if used optimally. Cogeneration processes with production of heat-and-power, heat-power-and-fuel or heat-power-and-fertilizer are described and compared. The following gasification platforms are included in the assessment: The Harboøre up draft gasifier with gas engine, the Güssing FICFB gasifier with gas engine or PDU, the LT-CFB gasifier with steam cycle and nutrient recycling and finally the TwoStage down draft gasifier with gas engine, micro gas turbine (MGT), SOFC, SOFC/MGT or catalytic fuel synthesis.     

Shedding light on solar technologies—A techno-economic assessment and its policy implications

Solar power technologies will have to become a major pillar in the world's future energy system to combat climate change and resource depletion. However, it is unclear which solar technology is and will prove most viable. Therefore, a comprehensive comparative assessment of solar technologies along the key quantitative and qualitative competitiveness criteria is needed. Based on a literature review and detailed techno-economic modeling for 2010 and 2020 in five locations, we provide such an assessment for the three currently leading large-scale solar technologies. We show that today these technologies cannot yet compete with conventional forms of power generation but approach competitiveness around 2020 in favorable locations. Furthermore, from a global perspective we find that none of the solar technologies emerges as a clear winner and that cost of storing energy differs by technology and can change the order of competitiveness in some instances. Importantly, the competitiveness of the different technologies varies considerably across locations due to differences in, e.g., solar resource and discount rates. Based on this analysis, we discuss policy implications with regard to fostering the diffusion of solar technologies while increasing the efficiency of policy support through an adequate geographical allocation of solar technologies.     

Gasification inhibition in chemical-looping combustion with solid fuels

Chemical-looping combustion (CLC) is a novel technology that can be used to meet growing demands on energy production without CO₂ emissions. The CLC process includes two reactors, an air and a fuel reactor. Between these two reactors oxygen is transported by an oxygen carrier, which most often is a metal oxide. This arrangement prevents mixing of N₂ from the air with CO₂ from the combustion giving combustion gases that consist almost entirely of CO₂ and H₂O. The technique reduces the energy penalty that normally arises from the separation of CO₂ from other flue gases, hence, CLC could make capture of CO₂ cheaper. For the application of CLC to solid fuels, the char remaining after devolatilization will react indirectly with the oxygen carrier via steam gasification. It has been suggested that H₂, and possibly CO, has an inhibiting effect on steam gasification in CLC. In this work experiments were conducted to investigate this effect. The experiments were conducted in a laboratory fluidized-bed reactor that was operating cyclically with alternating oxidation and reduction periods. Two different oxygen carriers were used as well as an inert sand bed. During the reducing period varying concentrations of CO or H₂ were used together with steam while the oxidation was conducted with 10% O₂ in N₂. The temperature was constant at 970 °C for all experiments. The results show that CO does not directly inhibit the gasification whereas the partial pressure of H₂ had a significant influence on fuel conversion. The results also suggest that dissociative hydrogen adsorption is the predominant hydrogen inhibition mechanism under the laboratory conditions, thus explaining why char conversion is much faster in a bed of oxygen carrying material, compared to an inert sand bed.     

Fast determination of the relative elemental and organic carbon content of aerosol samples by on-line single-particle aerosol time-of-flight mass spectrometry

Different particulate matter (PM) samples were investigated by on-line single-particle aerosol time-of-flight mass spectrometry (ATOFMS). The samples consist of soot particulates made by a diffusion flame soot generator (combustion aerosol standard, CAST), industrially produced soot material (printex), soot from a diesel passenger car as well as ambient particulates (urban dust (NIST) and road tunnel dust). Five different CAST soot particle samples were generated with different elemental carbon (EC) and organic carbon (OC) content. The samples were reaerosolized and on-line analyzed by ATOFMS, as well as precipitated on quartz filters for conventional EC/OC analysis. For each sample ca. 1000 ATOFMS single-particle mass spectra were recorded and averaged. A typical averaged soot ATOFMS mass spectrum shows characteristic carbon cluster peak progressions (Cn+) as well as hydrogen-poor carbon cluster peaks (CnH(1-3)+). These peaks are originated predominately from the elemental carbon (EC) content of the particles. Often additional peaks, which are not due to carbon clusters, are observed, which either are originated from organic compounds (OC-organic carbon), or from the non-carbonaceous inorganic content of the particles. By classification of the mass spectral peaks as elemental carbon (i.e., the carbon cluster progression peaks) or as peaks originated from organic compounds (i.e., molecular and fragment ions), the relative abundance of elemental (EC) and organic carbon (OC) can be determined. The dimensionless TC/EC values, i.e., the ratio of total carbon content (TC, TC = OC + EC) to elemental carbon (EC), were derived from the ATOFMS single-particle aerosol mass spectrometry data. The EC/TC values measured by ATOFMS were compared with the TC/EC values determined by the thermal standard techniques (thermooptical and thermocoulometric method). A good agreement between the EC/TC values obtained by on-line ATOFMS and the offline standard method was found.