Whole exome sequencing of benign pulmonary metastasizing leiomyoma reveals mutation in the BMP8B gene

Background: Benign metastasizing leiomyoma (BML) is an orphan neoplasm commonly characterized by pulmonary metastases consisting of smooth muscle cells. Patients with BML have usually a current or previous uterine leiomyoma, which is therefore suggested to be the most probable source of this tumour. The purpose of this case report was to determine the possible genetic grounds for pulmonary BML. Case presentation: We present a case report in an asymptomatic 44-year-old female patient, who has developed uterine leiomyoma with subsequent pulmonary BML. Whole exome sequencing (WES) was used to detect somatic mutations in BML lesion. Somatic single nucleotide mutations were identified by comparing the WES data between the pulmonary metastasis and blood sample of the same BML patient. One heterozygous somatic mutation was selected for validation by Sanger sequencing. Clonality of the pulmonary metastasis and uterine leiomyoma was assessed by X-chromosome inactivation assay. Conclusions: We describe a potentially deleterious somatic heterozygous mutation in bone morphogenetic protein 8B (BMP8B) gene (c.1139A > G, Tyr380Cys) that was identified in the pulmonary metastasis and was absent from blood and uterine leiomyoma, and may play a facilitating role in the metastasizing of BML. The clonality assay confirmed a skewed pattern of X-chromosome inactivation, suggesting monoclonal origin of the pulmonary metastases.Peer reviewe

A Work-Systems Approach to Classifying Risks in Crowdfunding Platforms: An Exploratory Analysis

Crowdfunding has attracted much attention in the last few years because it has opened up new pathways for projects to obtain financing from individuals who are non-professional investors via the Internet. While risk occupies a central role in crowdfunding, this notion has been an unexplored area in the information systems literature. To close this gap, we contribute to the literature by identifying the main risks in crowdfunding platforms. Using the Work Systems Risk Framework, we analyze main risks in three equity crowdfunding platforms: Crowdfunder, AngelList and Seedrs. Our findings indicate that operational risk, project management risk, cognitive skill risk, IP risk, quality risk, legal risk and vendor relationship risk factors to be important to crowdfunding platforms. Findings from this study are relevant to platform owners and regulators in assessing the risks of crowdfunding platforms

Improving zinc accumulation in barley endosperm using HvMTP1, a transition metal transporter

Zinc (Zn) is essential for all life forms, including humans. It is estimated that around two billion people are deficient in their Zn intake. Human dietary Zn intake relies heavily on plants, which in many developing countries consists mainly of cereals. The inner part of cereal grain, the endosperm, is the part that is eaten after milling but contains only a quarter of the total grain Zn. Here we present results demonstrating that endosperm Zn content can be enhanced through expression of a transporter responsible for vacuolar Zn accumulation in cereals. The barley (Hordeum vulgare) vacuolar Zn transporter HvMTP1 was expressed under the control of the endosperm-specific D-hordein promoter. Transformed plants exhibited no significant change in growth but had higher total grain Zn concentration, as measured by ICP-OES, compared to parental controls. Compared with Zn, transformants had smaller increases in concentrations of Cu and Mn but not Fe. Staining grain cross-sections with the Zn-specific stain DTZ revealed a significant enhancement of Zn accumulation in the endosperm of two of three transformed lines, a result confirmed by ICP-OES in the endosperm of dissected grain. Synchrotron X-ray fluorescence analysis of longitudinal grain sections demonstrated a redistribution of grain Zn from aleurone to endosperm. We argue that this proof-of-principle study provides the basis of a strategy for biofortification of cereal endosperm with Zn

La Informática Industrial en las Ingenierías Industriales

El término Informática Industrial se utiliza para dar cabida a un conjunto muy diverso de disciplinas y tecnologías. El encontrar un criterio unificador que articule los diversos enfoques posibles y que, ayude tanto al docente como al alumno, en el proceso de enseñanza/aprendizaje de manera que se brinde conocimiento perdurable y al mismo tiempo actualizado, es una tarea clave. En esta contribución se discuten estas ideas relativas a la docencia de esta disciplina en las diferentes titulaciones de la Escuela de Ingenierías Industriales de la UVA, manifestando ideas de cómo ese marco conceptual puede adaptarse al contexto de las diferentes especialidades.Departamento de Ingeniería de Sistemas y Automática2018-01-0

Managing Risks in Crowd-Funding Platforms

The purpose of this paper is to analyze risks in crowdfunding platforms. In crowdfunding, a network of people pool their money, usually via the Internet, in order to invest in and to support efforts initiated by other people or organizations. We follow a case study approach by applying the CORAS risk management methodology to the Appbackrcrowdfunding platform. This research addresses two research questions: How suitable is the CORAS methodology to analyze risks in crowdsourcing platforms? What are the main risks in a crowdfunding platform? The findings reveal potential threats and risks for the main stakeholders in crowdfunding platforms, and a set of risk treatment strategies are derived for the key risks

Der Erwerb figurativer Kompetenz im Kindes- und Jugendalter

Die vorliegende Arbeit behandelt das Thema „Der Erwerb figurativer Kompe-tenz im Kindes- und Jugendalter“. Ziel der Arbeit ist ein umfassender Überblick über verschiedene Komponenten in diesem Bereich, die für die weitere Forschung wichtig sind, aber oft nicht berücksichtigt werden. Dabei wird zunächst auf die Problematik der Definition figurativer Sprache und ihrer Formen eingegangen. Obwohl in Untersuchungen meist die beiden Felder Ironie/Sarkasmus und Metaphern/Idiome behandelt werden, wird ein Überblick über mehrere Sprachfiguren gegeben. Nach einer kurzen Einführung in die in der antiken Rhetorik behandelten Figuren wird vor allem auf die Bedeutung der figurativen Sprache im Alltag eingegangen. Kapitel 3 widmet sich dem Begriff „figurative Kompetenz“, also allen Fähigkeiten, die für Verständnis und Produktion figurativer Sprache benötigt werden. Dazu werden einige unterschiedliche Kompetenzmodelle vorgestellt. Kapitel 4 und 5 widmen sich verschiedenen Komponenten des Erwerbs und dazugehörigen Modellen. Kapitel 6 und 7 stellen Theorien zum Verständnis bei Kindern und Erwachsenen gegenüber, bevor in Kapitel 8 auf die Produktion figurativer Sprache eingegangen wird (unter Berücksichtigung frühkindlicher Produktionen und späteren Entwicklungen). Als Abschluss wird die Bedeutung der besprochenen Forschungsergebnisse und Modelle in Hinblick auf verschiedene Formen figurativer Sprache und praxisnaher Felder wie Spracherwerbsstörungen und Zweitspracherwerb besprochen

Luutiheduse näitajad menopausis suhkruhaigetel

Nii osteoporoos kui suhkurtõbi on laialt levinud arenenud maade elanikkonna hulgas. Eestis põeb insuliinisõltumatut suhkurtõbe üle 15 000 naise. Vähe on uuritud suhkurtõve mõju osteoporoosile. Käesolevas töös on uuritud luutiheduse näitajaid menopausis suhkruhaigetel selgitamaks seoseid suhkurtõve ja osteoporoosi kujunemise vahel. Eesti Arst 2005; 84 (8): 527–53