ALBERT

Description: Starting from the results regarding a nonvacuum technique to fabricate CIGS thin films for solar cells by means of single-step electrodeposition, we focus on the methodological problems of modeling at cell structure and photovoltaic module levels. As a matter of fact, electrodeposition is known as a practical alternative to costly vacuum-based technologies for semiconductor processing in the photovoltaic device sector, but it can lead to quite different structural and electrical properties. For this reason, a greater effort is required to ensure that the perspectives of the electrical engineer and the material scientist are given an opportunity for a closer comparison and a common language. Derived parameters from ongoing experiments have been used for simulation with the different approaches, in order to develop a set of tools which can be used to put together modeling both at single cell structure and complete module levels.

Description: Biomass is one of the most promising renewable energy sources. Abundantly, the potential as an alternative source to meet the world energy demand has been widely acknowledged. Gasification is one of the most efficient processes concerning thermochemical conversion, having as objective the production of a gas with useful energy power, known as producer gas. In order to optimize thermochemical processes such as the combustion of gases and subsequent gas mixture, computer modeling is becoming an important tool. Aiming to improve the performance of a combustion chamber, previously coupled to a downdraft gasifier, a thermofluidynamic model was elaborated and validated, using the concepts of computational fluid dynamics (CFD). It was reported that temperature, pressure, and velocity distributions of the computational model showed good consistency with experimental data, which allows using this model to predict the performance of this type of combustion chambers.

Description: Background: Herlyn-Werner-Wunderlich (HWW) syndrome is a very rare congenital anomaly of the urogenital tract involving Müllerian ducts and Wolffian structures, and it is characterized by the triad of didelphys uterus, obstructed hemivagina and ipsilateral renal agenesis. It generally occurs at puberty and exhibits non-specific and variable symptoms with acute or pelvic pain shortly following menarche, causing a delay in the diagnosis. Moreover, the diagnosis is complicated by the infrequency of this syndrome, because Müllerian duct anomalies (MDA) are infrequently encountered in a routine clinical setting.Cases presentationtwo cases of HWW syndrome in adolescents and a differential diagnosis for one case of a different MDA, and the impact of magnetic resonance (MR) imaging technology to achieve the correct diagnosis. Conclusions: MR imaging is a very suitable diagnostic tool in order to perform the correct diagnosis of HWW syndrome.

Description: Background: Polymerase Chain Reaction (PCR) and Restriction Fragment Length Polymorphism of PCR products (PCR-RFLP) are extensively used molecular biology techniques. An exercise for the design and simulation of PCR and PCR-RFLP experiments will be a useful educational tool.FindingsAn online PCR and PCR-RFLP exercise has been create that requires users to find the target genes, compare them, design primers, search for restriction endonucleases, and finally to simulate the experiment. Each user of the service is randomly assigned a gene from Escherichia coli; to complete the exercise, users must design an experiment capable of distinguishing among E. coli strains. By applying the experimental procedure to all completely sequenced E. coli, a basic understanding of strain comparison and clustering can also be acquired. Comparison of results obtained in different experiments is also very instructive. Conclusion: The exercise is freely available at http://insilico.ehu.es/edu

Description: Background: Pseudomonas aeruginosa is an opportunistic pathogen with a high incidence of hospital infections that represents a threat to immune compromised patients. Genomic studies have shown that, in contrast to other pathogenic bacteria, clinical and environmental isolates do not show particular genomic differences. In addition, genetic variability of all the P. aeruginosa strains whose genomes have been sequenced is extremely low. This low genomic variability might be explained if clinical strains constitute a subpopulation of this bacterial species present in environments that are close to human populations, which preferentially produce virulence associated traits. Results: In this work, we sequenced the genomes and performed phenotypic descriptions for four non-human P. aeruginosa isolates collected from a plant, the ocean, a water-spring, and from a dolphin stomach. We show that the four strains are phenotypically diverse and that this is not reflected in genomic variability, since their genomes are almost identical. Furthermore, we performed a detailed comparative genomic analysis of all the seven previously completed P. aeruginosa genomes with the four strains studied in this work by means of describing its core and pan-genomes. Conclusions: Contrary to what has been described for other bacteria, we found that P. aeruginosa's core genome is constituted by a high proportion of genes and that its pan-genome is thus relatively small. Considering the high degree of genomic conservation between isolates of P. aeruginosa from diverse environments, including human tissues, some implications for the treatment of infections are discussed. This work also represents a methodological contribution for the genomic study of P. aeruginosa, since the pan-genome database of protein comparisons is provided.

Description: Background: Common approaches to pathway analysis treat pathways merely as lists of genes disregarding their topological structures, that is, ignoring the genes' interactions on which a pathway's cellular function depends. In contrast, PathWave has been developed for the analysis of high-throughput gene expression data that explicitly takes the topology of networks into account to identify both global dysregulation of and localized (switch-like) regulatory shifts within metabolic and signaling pathways. For this purpose, it applies adjusted wavelet transforms on optimized 2D grid representations of curated pathway maps. Results: Here, we present the new version of PathWave with several substantial improvements including a new method for optimally mapping pathway networks unto compact 2D lattice grids, a more flexible and user-friendly interface, and pre-arranged 2D grid representations. These pathway representations are assembled for several species now comprising H. sapiens, M. musculus, D. melanogaster, D. rerio, C. elegans, and E. coli. We show that PathWave is more sensitive than common approaches and apply it to RNA-seq expression data, identifying crucial metabolic pathways in lung adenocarcinoma, as well as microarray expression data, identifying pathways involved in longevity of Drosophila. Conclusions: PathWave is a generic method for pathway analysis complementing established tools like GSEA, and the update comprises efficient new features. In contrast to the tested commonly applied approaches which do not take network topology into account, PathWave enables identifying pathways that are either known be involved in or very likely associated with such diverse conditions as human lung cancer or aging of D. melanogaster. The PathWave R package is freely available at http://www.ichip.de/software/pathwave.html.

Description: Background: Plant ALDH10 enzymes are aminoaldehyde dehydrogenases (AMADHs) that oxidize different omega-amino or trimethylammonium aldehydes, but only some of them have betaine aldehyde dehydrogenase (BADH) activity and produce the osmoprotectant glycine betaine (GB). The latter enzymes possess alanine or cysteine at position 441 (numbering of the spinach enzyme, SoBADH), while those ALDH10s that cannot oxidize betaine aldehyde (BAL) have isoleucine at this position. Only the plants that contain A441- or C441-type ALDH10 isoenzymes accumulate GB in response to osmotic stress. In this work we explored the evolutionary history of the acquisition of BAL specificity by plant ALDH10s. Results: We performed extensive phylogenetic analyses and constructed and characterized, kinetically and structurally, four SoBADH variants that simulate the parsimonious intermediates in the evolutionary pathway from I441-type to A441- or C441-type enzymes. All mutants had a correct folding, average thermal stabilities and similar activity with aminopropionaldehyde, but whereas A441S and A441T exhibited significant activity with BAL, A441V and A441F did not. The kinetics of the mutants were consistent with their predicted structural features obtained by modeling, and confirmed the importance of position 441 for BAL specificity. The acquisition of BADH activity could have happened through any of these intermediates without detriment of the original function or protein stability. Phylogenetic studies showed that this event occurred independently several times during angiosperms evolution when an ALDH10 gene duplicate changed the critical Ile residue for Ala or Cys in two consecutive single mutations. ALDH10 isoenzymes frequently group in two clades within a plant family: one includes peroxisomal I441-type, the other peroxisomal and non-peroxisomal I441-, A441- or C441-type. Interestingly, high GB-accumulators plants have non-peroxisomal A441- or C441-type isoenzymes, while low-GB accumulators have the peroxisomal C441-type, suggesting some limitations in the peroxisomal GB synthesis. Conclusion: Our findings shed light on the evolution of the synthesis of GB in plants, a metabolic trait of most ecological and physiological relevance for their tolerance to drought, hypersaline soils and cold. Together, our results are consistent with smooth evolutionary pathways for the acquisition of the BADH function from ancestral I441-type AMADHs, thus explaining the relatively high occurrence of this event.

Description: Background: In all branches of life there are plenty of symbiotic associations. Insects are particularly well suited to establishing intracellular symbiosis with bacteria, providing them with metabolic capabilities they lack. Essential primary endosymbionts can coexist with facultative secondary symbionts which can, eventually, establish metabolic complementation with the primary endosymbiont, becoming a co-primary. Usually, both endosymbionts maintain their cellular identity. An exception is the endosymbiosis found in mealybugs of the subfamily Pseudoccinae, such as Planococcus citri, with Moranella endobia located inside Tremblaya princeps. Results: We report the genome sequencing of M. endobia str. PCVAL and the comparative genomic analyses of the genomes of strains PCVAL and PCIT of both consortium partners. A comprehensive analysis of their functional capabilities and interactions reveals their functional coupling, with many cases of metabolic and informational complementation. Using comparative genomics, we confirm that both genomes have undergone a reductive evolution, although with some unusual genomic features as a consequence of coevolving in an exceptional compartmentalized organization. Conclusions: M. endobia seems to be responsible for the biosynthesis of most cellular components and energy provision, and controls most informational processes for the consortium, while T. princeps appears to be a mere factory for amino acid synthesis, and translating proteins, using the precursors provided by M. endobia. In this scenario, we propose that both entities should be considered part of a composite organism whose compartmentalized scheme (somehow) resembles a eukaryotic cell.

Description: Background: Mutations in the cyclin-dependent kinase-like 5 gene (CDKL5) located in the Xp22 regionhave been shown to cause a subset of atypical Rett syndrome with infantile spasms or earlyseizures starting in the first postnatal months. Methods: We performed mutation screening of CDKL5 in 60 female patients who had been identifiedas negative for the methyl CpG-binding protein 2 gene (MECP2) mutations, but who hadcurrent or past epilepsy, regardless of the age of onset, type, and severity. All the exons in theCDKL5 gene and their neighbouring sequences were examined, and CDKL5 rearrangementswere studied by multiplex ligation-dependent probe amplification (MLPA). Results: Six previously unidentified DNA changes were detected, two of which were disease-causingmutations in the catalytic domain: a frameshift mutation (c.509_510insGT;p.Glu170GlyfsX36) and a complete deletion of exon 10. Both were found in patients withseizures that started in the first month of life. Conclusions: This study demonstrated the importance of CDKL5 mutations as etiological factors inneurodevelopmental disorders, and indicated that a thorough analysis of the CDKL5 genesequence and its rearrangements should be considered in females with Rett syndrome-likephenotypes, severe encephalopathy and epilepsy with onset before 5 months of age. Thisstudy also confirmed the usefulness of MLPA as a diagnostic screening method for use inclinical practice.