MutationDistiller: user-driven identification of pathogenic DNA variants

MutationDistiller is a freely available online tool for user-driven analyses of Whole Exome Sequencing data. It offers a user-friendly interface aimed at clinicians and researchers, who are not necessarily bioinformaticians. MutationDistiller combines Mutation- Taster’s pathogenicity predictions with a phenotypebased approach. Phenotypic information is not limited to symptoms included in the Human Phenotype Ontology (HPO), but may also comprise clinical diagnoses and the suspected mode of inheritance. The search can be restricted to lists of candidate genes (e.g. virtual gene panels) and by tissue-specific gene expression. The inclusion of GeneOntology (GO) and metabolic pathways facilitates the discovery of hitherto unknown disease genes. In a novel approach, we trained MutationDistiller’s HPO-based prioritization on authentic genotype–phenotype sets obtained from ClinVar and found it to match or outcompete current prioritization tools in terms of accuracy. In the output, the program provides a list of potential disease mutations ordered by the likelihood of the affected genes to cause the phenotype. MutationDistiller provides links to gene-related information from various resources. It has been extensively tested by clinicians and their suggestions have been valued in many iterative cycles of revisions. The tool, a comprehensive documentation and examples are freely available at https://www.mutationdistiller.org

Predation ability and non-consumptive effects of Notonecta sellata (Heteroptera: Notonectidae) on immature stages of Culex pipiens (Diptera: Culicidae)

Predators may have multiple effects on prey, including the mortality caused by consumption, but also non-consumptive effects when prey alter their life history traits in the presence of predators. This study aimed to describe the consumption ability and the non-consumptive effects of Notonecta sellata (Heteroptera: Notonectidae) on immature stages of Culex pipiens (Diptera: Culicidae). Results showed that adult N. sellata were capable of preying on all larval instars, although they consumed more individuals of the 2nd and 3rd instars. Immature mosquitoes raised in the presence of, but without contact with, predators showed a slower development and smaller-sized emerging adults than those raised in the control treatments. Similar survival rates were recorded in the predator and control treatments. The present study suggests that N. sellata adults negatively affect Cx. pipiens populations in two ways: a) by increasing immature stage mortality as a result of direct consumption and extended development times; and b) by reducing their number of offspring, as a result of delayed reproduction and a lower fecundity of adults.Facultad de Ciencias Naturales y Muse

Predation ability and non-consumptive effects of Notonecta sellata (Heteroptera: Notonectidae) on immature stages of Culex pipiens (Diptera: Culicidae)

Predators may have multiple effects on prey, including the mortality caused by consumption, but also non-consumptive effects when prey alter their life history traits in the presence of predators. This study aimed to describe the consumption ability and the non-consumptive effects of Notonecta sellata (Heteroptera: Notonectidae) on immature stages of Culex pipiens (Diptera: Culicidae). Results showed that adult N. sellata were capable of preying on all larval instars, although they consumed more individuals of the 2nd and 3rd instars. Immature mosquitoes raised in the presence of, but without contact with, predators showed a slower development and smaller-sized emerging adults than those raised in the control treatments. Similar survival rates were recorded in the predator and control treatments. The present study suggests that N. sellata adults negatively affect Cx. pipiens populations in two ways: a) by increasing immature stage mortality as a result of direct consumption and extended development times; and b) by reducing their number of offspring, as a result of delayed reproduction and a lower fecundity of adults.Facultad de Ciencias Naturales y Muse

Desenvolvimento sustentável em malhas rodoviárias: uma contribuição à análise do passivo ambiental

Dissertação (mestrado) - Universidade Federal de Santa Catarina, Centro Tecnológico. Curso de Pós-Graduação em Engenharia CivilA abordagem adotada neste trabalho é direcionada a malhas rodoviárias existentes que necessitam de melhorias nos padrões de qualidade ambiental. Esta dissertação apresenta uma proposição metodológica de elaboração de Cadastro dos Passivos Ambientais mais encontrados nas rodovias catarinenses, caracterizando seus tipos, causas e níveis de gravidade, objetivando a implantação de um Índice de Qualidade Ambiental Rodoviária (IQARO), com vistas ao desenvolvimento sustentável. O estudo teve uma aplicação piloto na rodovia BR-470/SC, Trecho: Navegantes - Blumenau (km 10 - km 57). O Índice de Qualidade Ambiental Rodoviária resulta em aperfeiçoamento dos trabalhos executados por órgãos públicos e empresas privadas, proporcionando uma visão mais detalhada e precisa dos problemas existentes, principalmente nos processos de fiscalização, manutenção, monitoramento e recuperação dos passivos ambientais

Design, Synthese und Charakterisierung von nicht-porphyrinbasierten LD-CISSS-Komplexen für die Spinschaltung in Lösung

Lichtgetriebene Spinschaltmechanismen bieten ein breites Anwendungsspektrum, da der Spinzustandswechsel eines Systems mit möglichen optischen, magnetischen sowie elektronischen Änderungen einhergeht und die Verwendung von Licht eine hohe Orts- und Zeitauflösung aufweist. So kann bei dem LD-CISSS-Effekt (Light-Driven Coordination-Induced Spin State Switching) zwischen zwei Spinzuständen geschaltet werden, indem ein photoschaltbarer Ligand lichtinduziert koordiniert bzw. dekoordiniert und dadurch die Komplexgeometrie reversibel verändert werden kann. In der vorliegenden Dissertation sollten neue, nicht-porphyrinbasierte LD-CISSS-Systeme synthetisiert, charakterisiert und hinsichtlich der lichtgetriebenen Spinschaltung in Lösung untersucht werden. Neben Nickel(II) wurde auch Eisen(II) als Metallion verwendet und so das erste Eisen(II)-LD-CISSS-System generiert

Identification of fungicidal components in poplar bark from short rotation plantations

Growth of mould fungi on packaging material reduces the product quality. Eco-fungicidal substances ensure an environmentally friendly approach to prevent this problem during the service life of the product. The bark of poplar trees, as a by-product of short rotation plantations, can be a new source for obtaining bio-fungicidal substances. The types and amount of the eco-fungicidal substances in different poplar clones were investigated with GC/MS and extracted from the raw material with different methods and adapted solvent series. After applying the eco-fungicidal substances to packaging material exposed to a mixture of mould fungi, the resistance against mould growth was monitored for several weeks. The bark extracts have shown promising results in reducing the growth speed of the mould and testing of separate fungicidal substances in the bark showed that substances such as phenol, chatecol and salicylic alcohol can prevent the mould growth.:1 Introduction 2 Material and Methods 2.1 Poplar bark 2.2 Bark Extraction 2.3 Bark fibre production 2.4 Laboratory sheets 2.5 Mould fungi 3 Results and discussion 3.1 Fungicidal components in poplar bark 3.2 Evaluating the fungicidal properties 4 Outlook 5 Acknowledgement 6 LiteratureEin Wachstum von Schimmelpilzen auf Verpackungsmaterialien reduziert deren Produktqualität. Biofungizide Substanzen stellen eine umweltfreundliche Variante zur Vermeidung dieses Problems während der Nutzungsdauer des Produktes dar. Pappelrinde als Nebenprodukt von Kurzumtriebsplantagen ist neue Quelle für die Gewinnung fungizider Substanzen. Art und Menge der biofungiziden Substanzen wurden mittels GC/MS untersucht, die geeigneten Substanzen wurden mittels verschiedener Methoden und angepasster Lösemittelreihen aus dem Rohmaterial gewonnen. Verpackungsmaterialien mit applizierten biofungiziden Substanzen wurden einer Mischung aus verschiedenen Schimmelpilzen ausgesetzt. Die Resistenz gegenüber dem Wachstum der Schimmelpilze wurde über mehrere Wochen beobachtet. Die Rindenextrakte zeigten vielversprechende Ergebnisse bei der Reduzierung der Geschwindigkeit des Wachstums der Schimmelpilze. Die Prüfung ausgewählter, in der Rinde vorhandener Substanzen hat gezeigt, dass beispielsweise Phenol, Brenzcatechin und Salizylalkohol das Wachstum von Schimmelpilzen einschränken kann.:1 Introduction 2 Material and Methods 2.1 Poplar bark 2.2 Bark Extraction 2.3 Bark fibre production 2.4 Laboratory sheets 2.5 Mould fungi 3 Results and discussion 3.1 Fungicidal components in poplar bark 3.2 Evaluating the fungicidal properties 4 Outlook 5 Acknowledgement 6 Literatur

Host-Pathogen Interactions: Organotypic Cultures to Unravel the Mysteries of the Primordial Hostility among Organisms

Note: In lieu of an abstract, this is an excerpt from the first page. The interaction of humans with microorganisms represents a subtle balance between harm and good [...

NO Detection by Pulsed Polarization of Lambda Probes-Influence of the Reference Atmosphere

The pulsed polarization measurement technique using conventional thimble type lambda probes is suitable for low ppm NOx detection in exhaust gas applications. To evaluate the underlying sensor mechanism, the unknown influence of the reference atmosphere on the NO sensing behavior is investigated in this study. Besides answering questions with respect to the underlying principle, this investigation can resolve the main question of whether a simplified sensor element without reference may be also suitable for NO sensing using the pulsed polarization measurement technique. With an adequate sensor setup, the reference atmosphere of the thimble type lambda probe is changed completely after a certain diffusion time. Thus, the sensor response regarding NO is compared with and without different gas atmospheres on both electrodes. It is shown that there is still a very good NO sensitivity even without reference air, although the NO response is reduced due to non-existing overlying mixed potential type voltage, which is otherwise caused by different atmospheres on both electrodes. Considering these results, we see an opportunity to simplify the standard NOx sensor design by omitting the reference electrode

PERSPECTIVAS DE PERMANÊNCIA DOS AGRICULTORES FAMILIARES DE JOAÇABA, HERVAL D’OESTE E LUZERNA NA ATIVIDADE RURAL

Analisou-se, neste trabalho, as perspectivas dos agricultores familiares dos Municípios de Joaçaba, Herval d’Oeste e Luzerna, localizados no Meio-Oeste de Santa Catarina, em permanecerem e continuarem na atividade rural. O objetivo foi identificar as perspectivas de permanência dos agricultores familiares desses Municípios na atividade rural. Utilizaram-se as abordagens da pesquisa quantitativa e qualitativa, e se caracteriza quanto aos fins como pesquisa exploratória e descritiva. Aplicou-se a pesquisa de campo complementada com a pesquisa bibliográfica e documental. A população compreende cerca de 1.450 propriedades de agricultores familiares de Joaçaba, Herval d’Oeste e Luzerna, e a amostra foi constituída por 150 entrevistados, com nível de confiança de 95%, com erro amostral de 6,2%. Os dados primários foram coletados por meio de entrevista semiestruturada, complementada com observações. As entrevistas foram realizadas nas dependências do Sindicato dos Trabalhadores Rurais de Joaçaba e Luzerna, do Sindicato dos Trabalhadores Rurais de Herval d’Oeste, nas comunidades rurais e na Feira de comercialização de produtos coloniais. Para o tratamento e a análise dos dados, utilizaram-se os recursos dos softwares Sphinx Lexica e Excel. Os resultados apontam a tendência de envelhecimento da população rural, em razão da saída dos jovens em busca de melhores condições de vida e trabalho. Apenas em 25,3% das propriedades há algum familiar que pretende continuar na propriedade rural. A instabilidade dos preços, os baixos rendimentos da atividade agrícola e a assistência técnica insuficiente são as principais dificuldades apontadas. Identificou-se que a maioria dos agricultores pretende continuar na atividade agrícola. Mas, os motivos pela permanência na agricultura são inconsistentes, e poucas propriedades familiares têm algum membro com interesse na sucessão destas.Palavras-chave: Agricultura familiar. Propriedade rural. Atividade rural. Sucessão