Open Access

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 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.

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. 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.

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.

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.