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Development and Validation of a Rapid and Reliable Method for TPMT Genotyping using real-time PCR
(2012)
3D Time-of-Flight (ToF)
(2012)
Lichtlaufzeitsensor
(2012)
Lichtlaufzeitkamera
(2012)
The documentation requirements of data published in long term archives have significantly grown over the last decade. At WDCC the data publishing process is assisted by “Atarrabi”, a web-based workflow system for reviewing and editing metadata information by the data authors and the publication agent. The system ensures high metadata quality for long-term use of the data with persistent identifiers (DOI/URN). By these well-defined references (DOI) credit can properly be given to the data producers in any publication.
In this paper we summarize our research on international educational contexts and transfer the results to the context of urban life-long learning. We will show that a collection and provision of relevant data can help instructors as well as learners to raise their awareness regarding contextual differences, to develop a higher level of acceptance regarding differences, and thus, in the long term, avoid frustration in educational processes and reduce drop out-rates.
In the context of Internet-based e-Learning, including an international auditory is a logical consequence. However, due to uncertainty regarding the foreign learners, e-Learning programs often are limited to local or national participants. Understanding the different expectations of learners regarding instructor-support is one step in order to enable providers of educational services to tailor educational programs that fit the requirements of an international auditory. We asked university students in five countries regarding their expectations towards instructor-support and found major differences between the investigated countries.
For learners, feedback can be both, a strong motivator but in case it fails its purpose, it can be a strong reason for frustration and dropouts as well. Do we have to change our locally implemented feedback strategies when adapting learning contents from national to international settings? In our study, we the investigated learners’ understanding and preferences regarding feedback in scenarios of higher education across the five different national contexts, Bulgaria, Germany, South Korea, Turkey, and Ukraine.
This presentation shows that students in different cultural contexts have different perceptions of time management and work organization. Particularly in group work scenarios, such differences can have a frustrating impact on students from other cultural contexts because e.g., expectations are not met. Being aware of such differences between the learners in a culturally heterogeneous educational scenario, educators can prevent frustration by introducing their students and providing more specific instructions.
Education is widely seen as an important means of addressing both national and international problems, such as political or religious extremism, poverty, and hunger. If publicly available educational resources (OERs) shall help overcoming the educational gap, localization is one of the major issues we need to deal with. Educators as well as learners need to be supported to determine adaptation needs. This paper provides a list of possible in-fluence factors on educational scenarios which are defined as context metadata. In the given form, the list needs to be understood as an addendum for the paper entitled ‘Open Educational Resources: Education for the World?’ from Thomas richter and Maggie McPherson; It is being published in the volume 3, issue 2 of the Journal Distance Education in 2012.
Education is widely seen as an important means of addressing both national and international problems, such as political or religious extremism, poverty, and hunger. However, if developing countries are to become societies that can compete properly with Western industrialized countries, not only is a fundamental shift in thinking with regard to the value of education and more/better provision of teaching required, but strong support from other countries is needed as well. This article explores questions such as whether Western policymakers can avoid a repetition of some of the failures of the past few decades in terms of providing foreign aid; how educators and providers of educational scenarios and learning contents can foster and manage the creation of a worldwide knowledge society; and in particular, if the provision of open educational resources (OER) can realistically overcome the educational gap and foster educational justice.
The requirements of an efficient communication scheme for wireless sensing applications have been investigated. The noncoherent direct chaotic communication scheme called chaos on-off keying (COOK) has presented itself as a promising candidate. This paper proposes a modified version of the COOK scheme to improve its performance in noisy and fading environments. The proposed scheme is designed to increase the signal space of the decision variable by using the concept of differential correlation keeping implementation requirements simple. The results show that the proposed modified version of the COOK scheme achieves less bit-error probability in noisy and fading channels at moderate signal-to-noise ratio values and almost constant detection threshold as compared with the original version.
Mitochondrial enoyl-CoA isomerase (ECI1) is an auxiliary enzyme involved in unsaturated fatty acid oxidation. In contrast to most of the other enzymes involved in fatty acid oxidation, a deficiency of ECI1 has yet to be identified in humans. We used wild-type (WT) and Eci1-deficient knockout (KO) mice to explore a potential presentation of human ECI1 deficiency. Upon food withdrawal, Eci1-deficient mice displayed normal blood β-hydroxybutyrate levels (WT 1.09 mM vs. KO 1.10 mM), a trend to lower blood glucose levels (WT 4.58 mM vs. KO 3.87 mM, P=0.09) and elevated blood levels of unsaturated acylcarnitines, in particular C12:1 acylcarnitine (WT 0.03 μM vs. KO 0.09 μM, P<0.01). Feeding an olive oil-rich diet induced an even greater increase in C12:1 acylcarnitine levels (WT 0.01 μM vs. KO 0.04 μM, P<0.01). Overall, the phenotypic presentation of Eci1-deficient mice is mild, possibly caused by the presence of a second enoyl-CoA isomerase (Eci2) in mitochondria. Knockdown of Eci2 in Eci1-deficient fibroblasts caused a more pronounced accumulation of C12:1 acylcarnitine on incubation with unsaturated fatty acids (12-fold, P<0.05). We conclude that Eci2 compensates for Eci1 deficiency explaining the mild phenotype of Eci1-deficient mice. Hypoglycemia and accumulation of C12:1 acylcarnitine might be diagnostic markers to identify ECI1 deficiency in humans.
Propionic acidaemia (PA) is an inborn error of intermediary metabolism caused by deficiency of propionyl-CoA carboxylase. The metabolic block leads to a profound failure of central metabolic pathways, including the urea and the citric acid cycles. This review will focus on changes in amino acid metabolism in this inborn disorder of metabolism. The first noted disturbance of amino acid metabolism was hyperglycinaemia, which is detectable in nearly all PA patients. Additionally, hyperlysinaemia is a common observation. In contrast, concentrations of branched chain amino acids, especially of isoleucine, are frequently reported as decreased. These non-proportional changes of branched-chain amino acids (BCAAs) compared with aromatic amino acids are also reflected by the Fischer's ratio (concentration ratio of BCAAs to aromatic amino acids), which is decreased in PA patients. As restricted dietary intake of valine and isoleucine as precursors of propionyl-CoA is part of the standard treatment in PA, decreased plasma concentrations of BCAAs may be a side effect of treatment. The concentration changes of the nitrogen scavenger glutamine have to be interpreted in the light of ammonia levels. In contrast to other hyperammonaemic syndromes, in PA plasma glutamine concentrations do not increase in hyperammonaemia, whereas CSF glutamine concentrations are elevated. Despite lactic acidaemia in PA patients, hyperalaninaemia is only rarely reported. The mechanisms underlying the observed changes in amino acid metabolism have not yet been elucidated, but most of the changes can be at least partly interpreted as consequence of disturbance of anaplerosis.
3-hydroxyisobutyric aciduria is an organic aciduria with a poorly understood biochemical basis. It has previously been assumed that deficiency of 3-hydroxyisobutyrate dehydrogenase (HIBADH) in the valine catabolic pathway is the underlying enzyme defect, but more recent evidence makes it likely that individuals with 3-hydroxyisobutyryic aciduria represent a heterogeneous group with different underlying mechanisms, including respiratory chain defects or deficiency of methylmalonate semialdehyde dehydrogenase. However, to date methylmalonate semialdehyde dehydrogenase deficiency has only been demonstrated at the gene level for a single individual. We present two unrelated patients who presented with developmental delay and increased urinary concentrations of 3-hydroxyisobutyric acid. Both children were products of consanguineous unions and were of European or Pakistani descent. One patient developed a febrile illness and subsequently died from a hepatoencephalopathy at 2 years of age. Further studies were initiated and included tests of the HIBADH enzyme in fibroblast homogenates, which yielded normal activities. Sequencing of the ALDH6A1 gene (encoding methylmalonate semialdehyde dehydrogenase) suggested homozygosity for the missense mutation c.785 C > A (S262Y) in exon 7 which was not found in 210 control alleles. Mutation analysis of the ALDH6A1 gene of the second patient confirmed the presence of a different missense mutation, c.184 C > T (P62S), which was also identified in 1/530 control chromosomes. Both mutations affect highly evolutionarily conserved amino acids of the methylmalonate semialdehyde dehydrogenase protein. Mutation analysis in the ALDH6A1 gene can reveal a cause of 3-hydroxyisobutyric aciduria, which may present with only slightly increased urinary levels of 3-hydroxyisobutyric acid, if a patient is metabolically stable.
Ketone bodies acetoacetate and 3-hydroxy-n-butyric acid are metabolites derived from fatty acids and ketogenic amino acids such as leucine. They are mainly produced in the liver via reactions catalyzed by the ketogenic enzymes mitochondrial 3-hydroxy-3-methylglutary-coenzyme A synthase and 3-hydroxy-3-methylglutary-coenzyme A lyase. After prolonged starvation, ketone bodies can provide up to two-thirds of the brain's energy requirements. The rate-limiting enzyme of ketone body utilization (ketolysis) is succinyl-coenzyme A:3-oxoacid coenzyme A transferase. The subsequent step of ketolysis is catalyzed by 2-methylactoacetyl-coenzyme A thiolase, which is also involved in isoleucine catabolism. Inborn errors of metabolism affecting those four enzymes are presented and discussed in the context of differential diagnoses. While disorders of ketogenesis can present with hypoketotic hypoglycemia, inborn errors of ketolysis are characterized by metabolic decompensations with ketoacidosis. If those diseases are considered early and appropriate treatment is initiated without delay, patients with inborn errors of ketone body metabolism often have a good clinical outcome.
