95 research outputs found

    Unite and Unrule! Reflections of a co-created pedagogy for transformation

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    Reader notes • As a collective, we experimented with co-creation as means to develop a more creative, innovative and collaborative space in order to inspire (in)direct transformations in the larger HE system we study and work in. • Our approach to co-creation, as a specific form of collaboration, is inspired by insights from critical, contemplative, social justice and relational pedagogy based on design principles derived from regenerative development. • In this case study, we highlight two interrelated features of our co-creation approach to developing transgressive learning spaces: 1) relational learning beyond individualism, and 2) from competition towards reflective and self-directed learning

    Unite and Unrule! Reflections of a co-created pedagogy for transformation

    Get PDF
    Reader notes • As a collective, we experimented with co-creation as means to develop a more creative, innovative and collaborative space in order to inspire (in)direct transformations in the larger HE system we study and work in. • Our approach to co-creation, as a specific form of collaboration, is inspired by insights from critical, contemplative, social justice and relational pedagogy based on design principles derived from regenerative development. • In this case study, we highlight two interrelated features of our co-creation approach to developing transgressive learning spaces: 1) relational learning beyond individualism, and 2) from competition towards reflective and self-directed learning

    Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland

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    The genetics of autosomal recessive intellectual disability (ARID) has mainly been studied in consanguineous families, however, founder populations may also be of interest to study intellectual disability (ID) and the contribution of ARID. Here, we used a genotype-driven approach to study the genetic landscape of ID in the founder population of Finland. A total of 39 families with syndromic and non-syndromic ID were analyzed using exome sequencing, which revealed a variant in a known ID gene in 27 families. Notably, 75% of these variants in known ID genes were de novo or suspected de novo (64% autosomal dominant; 11% X-linked) and 25% were inherited (14% autosomal recessive; 7% X-linked; and 4% autosomal dominant). A dual molecular diagnosis was suggested in two families (5%). Via additional analysis and molecular testing, we identified three cases with an abnormal molecular karyotype, including chr21q22.12q22.2 uniparental disomy with a mosaic interstitial 2.7 Mb deletion covering DYRK1A and KCNJ6. Overall, a pathogenic or likely pathogenic variant was identified in 64% (25/39) of the families. Last, we report an alternate inheritance model for 3 known ID genes (UBA7, DDX47, DHX58) and discuss potential candidate genes for ID, including SYPL1 and ERGIC3 with homozygous founder variants and de novo variants in POLR2F and DNAH3. In summary, similar to other European populations, de novo variants were the most common variants underlying ID in the studied Finnish population, with limited contribution of ARID to ID etiology, though mainly driven by founder and potential founder variation in the latter case.Peer reviewe

    Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland

    Get PDF
    The genetics of autosomal recessive intellectual disability (ARID) has mainly been studied in consanguineous families, however, founder populations may also be of interest to study intellectual disability (ID) and the contribution of ARID. Here, we used a genotype-driven approach to study the genetic landscape of ID in the founder population of Finland. A total of 39 families with syndromic and non-syndromic ID were analyzed using exome sequencing, which revealed a variant in a known ID gene in 27 families. Notably, 75% of these variants in known ID genes were de novo or suspected de novo (64% autosomal dominant; 11% X-linked) and 25% were inherited (14% autosomal recessive; 7% X-linked; and 4% autosomal dominant). A dual molecular diagnosis was suggested in two families (5%). Via additional analysis and molecular testing, we identified three cases with an abnormal molecular karyotype, including chr21q22.12q22.2 uniparental disomy with a mosaic interstitial 2.7 Mb deletion covering DYRK1A and KCNJ6. Overall, a pathogenic or likely pathogenic variant was identified in 64% (25/39) of the families. Last, we report an alternate inheritance model for 3 known ID genes (UBA7, DDX47, DHX58) and discuss potential candidate genes for ID, including SYPL1 and ERGIC3 with homozygous founder variants and de novo variants in POLR2F and DNAH3. In summary, similar to other European populations, de novo variants were the most common variants underlying ID in the studied Finnish population, with limited contribution of ARID to ID etiology, though mainly driven by founder and potential founder variation in the latter case

    Portal hypertension in fatty liver of pregnancy

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    Very First Results of the Medoc Experiment

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    It is already well known that the coordinates of the pole can be derived not only by the classical astronomical methods but also from analysis of the orbits of artificial Earth satellites. The MEDOC experiment (Motion of the Earth by Doppler Observation Campaign) has been initiated by the Groupe de Recherches de Géodésie Spatiale (GRGS) to provide observations and undertake independent analysis for this purpose. Several organisations are participating.</jats:p
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