6 research outputs found
Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/- mice
Objective FOXG1 syndrome is a rare neurodevelopmental disorder associated with heterozygous FOXG1 variants or chromosomal microaberrations in 14q12. The study aimed at assessing the scope of structural cerebral anomalies revealed by neuroimaging to delineate the genotype and neuroimaging phenotype associations. Methods We compiled 34 patients with a heterozygous (likely) pathogenic FOXG1 variant. Qualitative assessment of cerebral anomalies was performed by standardized re-analysis of all 34 MRI data sets. Statistical analysis of genetic, clinical and neuroimaging data were performed. We quantified clinical and neuroimaging phenotypes using severity scores. Telencephalic phenotypes of adult Foxg1+/- mice were examined using immunohistological stainings followed by quantitative evaluation of structural anomalies. Results Characteristic neuroimaging features included corpus callosum anomalies (82%), thickening of the fornix (74%), simplified gyral pattern (56%), enlargement of inner CSF spaces (44%), hypoplasia of basal ganglia (38%), and hypoplasia of frontal lobes (29%). We observed a marked, filiform thinning of the rostrum as recurrent highly typical pattern of corpus callosum anomaly in combination with distinct thickening of the fornix as a characteristic feature. Thickening of the fornices was not reported previously in FOXG1 syndrome. Simplified gyral pattern occurred significantly more frequently in patients with early truncating variants. Higher clinical severity scores were significantly associated with higher neuroimaging severity scores. Modeling of Foxg1 heterozygosity in mouse brain recapitulated the associated abnormal cerebral morphology phenotypes, including the striking enlargement of the fornix. Interpretation Combination of specific corpus callosum anomalies with simplified gyral pattern and hyperplasia of the fornices is highly characteristic for FOXG1 syndrome.Peer reviewe
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Medieval Presence at the Periphery of the Nubian State of Makuria: Examples from the Wadi Abu Dom and the Jebel al-Ain
This paper presents some medieval material from remote areas within the Bayuda and the Western Deserts in Sudan, and draws several conclusions about the presence of Christianity and the Makurian administration within them. First, the general topographical setting of the different areas are described in order to define the geographical frame of the paper. The Wadi Abu Dom is an ephemeral fluviatile valley situated within the central and western Bayuda between the Sudanese provinces River Nile State and Northern State. It drains several dendritic khors in volcanic mountains of the central Bayuda – the most prominent of them named “Ras ed-Dom,” whose name refers to its role as the uppermost offspring of the (Wadi Abu) Dom. It flows at its very beginning from north to south, and later in western or northwestern direction. North of the modern town of Merowe directly opposite the Gebel Barkal, it meets the River Nile
Recommended from our members
Medieval Presence at the Periphery of the Nubian State of Makuria: Examples from the Wadi Abu Dom and the Jebel al-Ain
This paper presents some medieval material from remote areas within the Bayuda and the Western Deserts in Sudan, and draws several conclusions about the presence of Christianity and the Makurian administration within them. First, the general topographical setting of the different areas are described in order to define the geographical frame of the paper. The Wadi Abu Dom is an ephemeral fluviatile valley situated within the central and western Bayuda between the Sudanese provinces River Nile State and Northern State. It drains several dendritic khors in volcanic mountains of the central Bayuda – the most prominent of them named “Ras ed-Dom,” whose name refers to its role as the uppermost offspring of the (Wadi Abu) Dom. It flows at its very beginning from north to south, and later in western or northwestern direction. North of the modern town of Merowe directly opposite the Gebel Barkal, it meets the River Nile
A Design Process for Creative Technology
Creative Technology is a new bachelor programme at the University of Twente. Goal of Creative Technology is to design products and applications that improve the quality of daily life in its manifold aspects, building on Information and Communication Technology (ICT). The application domains range from recreation to work, from entertainment to learning and from health to art. A paradigm of Creative Technology is to make use of existing technology in novel combinations –in contrast to developing new technology. In this paper we identify and elaborate the Design Methods of Creative Technology in a consistent overview. On one side, the focus on human daily life suggests that user centred design approaches from Industrial Design and Interaction Design are relevant for Creative Technology. On the other side, the development of prototypes will make use of “classical‿ engineering design principles. Between these areas of design is a field that is not covered by other disciplines: the exploration of the potential of existing ICT technology, focussing on applicability for the user. To foster this process, our design method is a balanced combination of Divergence-Convergence and Spiral models of design practice. The purpose of this model is mainly for education. However, for Creative Technology as a multidisciplinary field, it is also relevant to position itself in contrast to the neighbouring disciplines, which in our context are Industrial Design Engineering and ICT
How to educate for creativity in creative technology?
Creative Technology is a new BSc programme at the University of Twente. Its goal is to design novel applications and products to improve daily life of people, with ICT as design material. Applications range from everyday life to health support, from playing and entertainment to serious gaming and socializing, from working and learning to art, while using instruments of stimulation, motivation, or support. The goal of the BSc programme is to give students the skills, methods and tools that enable them to design such products. A paradigm of Creative Technology is that existing technology has a potential that is not yet fully explored. This potential lies in the novel use and ways of integration of existing technologies into new and innovating applications and products. This perspective is different from classical technical education, and, consequently, requires also a shift of design methods and teaching approaches. How to stimulate creativity is not a new question. However, it mainly is addressed in other domains. Moreover, most of creativity stimulating techniques aim at different target groups, like children, artists, designers or managers, not technology students. And certainly they are not meant as relevant skills within scientific education. The contribution of this paper is a structured analysis of our attemps and experiences with five cohorts of students in teaching Creative Technology. We will discuss the implications for the teaching practice of Creative Technology and will outline the possibilities and limitations of our practices for other technology oriented design curricula