Congenital microcephaly (conMiC) is a manifestation of severely disrupted prenatal brain development, caused by genetic defects, toxins, severe maternal malnutrition, or infection. The Zika virus outbreak and the devastating impact of Zika infection on the fetal brain have focused much attention on the cellular and molecular pathophysiology of conMiC. Mendelian conMiC disorders offer a unique opportunity for understanding gene and protein networks that direct cellular processes essential for prenatal brain development. Using OMIM and literature searches, I analyzed 68 conMiC disorders and their 65 corresponding genes. ConMiC-disorder phenotypes were characterized by analyzing the co-occurrence of ID, retinal abnormalities, seizures, and short stature. Short stature co-occurred with 70% of conMiC disorders, while seizures and retinopathy co-occurred with 68% and 37%, respectively. In 53% of conMiC disorders, seizures and short stature overlapped, while all features overlapped in 22% of conMiC disorders; only 7% of conMiC disorders lacked one of these co-occurring features. This shows conMiC genes are rarely specialized for brain growth, with generalized functions in overall body growth, retinal development, and/or regulation of neural activity. ConMiC-gene transcript accumulation in the brain is typically greatest during the prenatal period, and then declines postnatally, suggesting active transcriptional repression. Nonetheless, in neurons and glia of the adult brain, 44 conMiC genes had confirmed persistent protein accumulation. Experimental evidence indicates transcription in neural progenitor cells (NPCs) for at least 82% of conMiC genes. The spatiotemporal expression patterns of conMiC genes tend to align well with their biological functions and corresponding mutant phenotypes. Nearly 60% of conMiC gene products have functions in the cell cycle and/or DNA repair. Most conMiC disorders are caused by recessive, loss-of-function mutations. There are direct binding and regulatory interactions amongst many conMiC genes, which interact in larger networks and shared pathways. Depletion of single conMiC gene products can affect the transcript and/or protein levels of other conMiC gene products, which could have a “domino effect”, and disrupt entire networks important for brain development. Further evidence for this model is that 22 conMiC genes are consistently dysregulated in Zika-infected developing human brain tissue. Due to the complexity of conMiC genes and their interactions, there are many unique challenges to developing treatments for conMiC, particularly conMiC caused by maternal Zika-virus infection. However, insights to treatment strategies could be gained by using human genetics to find potential modifiers, screening for drugs that can normalize disrupted cell cycle and DNA-repair processes, or can stabilize protein complexes that are disrupted due to a conMiC gene mutation.

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Esta dissertação apresenta a edição de texto fidedigna e anotada da correspondência do polígrafo Mário de Andrade (1893-1945) com intelectuais, escritores e instituições culturais do Uruguai, Peru, Chile e Colômbia. O conjunto, reunindo 26 interlocutores, congrega 171 documentos, conservados na Série Correspondência do Fundo Mário de Andrade, do Instituto de Estudos Brasileiros da Universidade de São Paulo (IEB-USP) e no Acervo Curt Lange, na Biblioteca Central da Universidade Federal de Minas Gerais (UFMG). O estudo e a anotação da correspondência tiveram como objetivo evidenciar as redes de sociabilidade estabelecidas por Mário de Andrade, fornecendo, assim, aos pesquisadores informações acerca das dinâmicas de criação, publicação e circulação de obras no âmbito sul-americano. A edição pretende complementar o escopo da pesquisa de Patrícia Artundo, concretizada na Correspondência Mário de Andrade & Escritores/ Artistas Argentinos (Edusp/IEB, 2013). / This dissertation presents the reliable and annotated edition of the correspondence of the polygraph Mário de Andrade (1893-1945) with intellectuals, writers and cultural institutions from Uruguay, Peru, Chile and Colombia. The gathered data, bringing together 26 interlocutors, congregates 171 documents, conserved in the Serie Correspondence of Mário de Andrade\'s Fond, at the Institute of Brazilian Studies of University of São Paulo (IEB-USP) and in Curt Lange\'s Fond, at the Central Library of the Federal University of Minas Gerais (UFMG). The correspondence\'s study and annotation had as objective to evidence the sociability network established by Mário de Andrade, providing, thus, to the researchers information about dynamics of creation, publication and circulation of works in South American circuit. The edition aims to complement the scope of Patrícia Artundo\'s research, accomplished in Correspondência Mário de Andrade & Escritores / Artistas Argentinos (Edusp/IEB, 2013).

Ausstellung kuratiert von Gwendolin Kremer / Die Ausstellungsbroschüren des „Projektraum am Weißen Hirsch. Galerie Grafikladen“ dokumentieren die Ausstellungstätigkeit eines nicht institutionellen Ausstellungsraumes in Dresden zwischen 2010 und 2016. Die Galerie widmete sich dem Werk zeitgenössischer junger Künstler, vorwiegend Meisterschüler und Absolventen, die in der Regel einen biografischen Bezug zu Dresden haben. Das Ausstellungskonzept war offen für die verschiedensten künstlerischen Ausdrucksformen – von Malerei über Fotografie bis zu performativen Ansätzen. Jährlich fanden vier bis fünf, von wechselnden Kuratoren entwickelte Ausstellungen statt. Im August 2016 eröffnete die vorerst letzte Ausstellung. / © bei den Rechteinhabern, Lizenz: Zugang frei – Rechte vorbehalten. Bitte beachten Sie unsere Hinweise zum Urheberrecht.

Thesis (MA)--University of Stellenbosch, 1998. / Blog by Johann de Lange: http://johanndelange.blogspot.com/ / AFRIKAANSE OPSOMMING: Hierdie studie stel hom ten doel om die 19de-eeuse kulturele fin de siecle-intertekste in Johann de Lange se poësie, wat grotendeels postmodernisties van aard is, na te gaan ten einde die hipotese te toets dat sy werk sterk ooreenkomste met die kunsuitinge van die vorige eeuwending openbaar. Hieruit blyk duidelik 'n korrespondensie of ekwivalensie tussen die tydsgees en diskoers van die huidige fin de millennium en die van die 19de-eeuse fin de siecle. Die titel van die tesis is ontleen aan die gedig "Greenwichtyd" uit Snel grys fantoom (1986:29): Dit als terwyl ek stil slaap anderkant die horison, klein doen in 'n wêreld waar eeue wegtik met elke oogknip, 'n dag gebeur tussen een asemteug en die volgende [...] Omdat al sewe bundels van die digter ondersoek is, kon slegs drie gedigte in diepte geanaliseer word, naamlik "Correspondences" uit Wordende naak (1990:22), "Studie van 'n portret van 'n man" uit Snel grys fantoom (1986:56) en "Vlees van die berg" uit Vleiswond (1993:51-52). Die gedig "Correspondences", wat seminaal is vir die hipotese wat in hierdie studie gestel word, kom in 'n eie hoofstuk aan bod; "Studie van 'n portret van 'n man" is aanvullend tot die hipotese dat De Lange hom met die kunstenaars van die fin de siecle vereenselwig; terwyl "Vlees van die berg" op vele wyses De Lange se digterlike preokkupasies weerspieël. Enkele aspekte van die kunsstrominge van die Dekadentisme, Estetisisme en Simbolisme, wat in die eeuwending voorkom en ook in De Lange se verse neerslag vind, word in afsonderlike hoofstukke bespreek. Die digter se sosiopolitieke betrokkenheid wat deur die meeste kritici in die verlede misken is, word bevestig. As gevolg daarvan dat mistisisme en metapoësie by De Lange dikwels in 'n enkele gedig saamsmelt, word hierdie aspekte ten slotte in 'n afsonderlike hoofstuk onder die loep geneem. Daar word deurgaans gebruik gemaak van verwysings na geselekteerde gedigte uit De Lange se oeuvre, telkens gesitueer binne die konteks van die postmoderniteit. Ten einde die dinamika van intertekstuele en interdiskursiewe prosesse te demonstreer, word intertekstuele ekskursies of intertekstuele cruising dikwels onderneem. / ENGLISH ABSTRACT: This study investigates the 19th century cultural fin de siecle intertexts in Johann de Lange's predominantly postmodernistic poetry in order to test the hypothesis that his work reveals strong correspondences to art forms of the previous turn of the century. As a result a correspondence or an equivalence between the cultural climates and discourses of the relevant ages, viz. the present fin de millennium and the fin de siecle of the 19th century, is indicated. The origin of the title of the thesis is the poem "Greenwichtyd" from Snel grys fantoom (1986:29): Dit als terwyl ek stil slaap anderkant die horison, klein doen in 'n wêreld waar eeue wegtik met elke oogknip, 'n dag gebeur tussen een asemteug en die volgende [...] The volume of work involved in the examination of the poet's entire oeuvre of seven volumes precluded the exhaustive analysis of vast numbers of poems. For this reason only three poems have been analysed in any depth. These are "Correspondences" from Wordende naak (1990:22), "Studie van 'n portret van 'n man" from Snel grys fantoom (1986:56) and "Vlees van die berg" from Vleiswond (1993:51-52). The poem "Correspondences" which is seminal to the hypothesis posed in this study is discussed in a separate chapter; "Studie van 'n portret van 'n man" is supplementary to the hypothesis that De Lange identifies with the artists of the fin de siecle; while "Vlees van die berg" reflects many of De Lange's poetic preoccupations. A few aspects of decadence (in the cultural sense), aestheticism and symbolism, schools of art prevalent at the turn of the century which all find expression in De Lange's poems, are examined in separate chapters. The sosio-political commitment of the poet, unrecognised by most critics in the past, is confirmed. Because De Lange often merges mysticism and metapoetry in a single poem, these aspects are finally investigated together in one chapter. Reference is made throughout to selected poems from De Lange's oeuvre as situated within the context of postmodernity. In order to demonstrate the dynamics of intertextual and interdiscursive processes, intertextual excursions or "cruises" are often undertaken.

Thesis (MA)--University of Stellenbosch, 2000. / Blog by Johann de Lange: http://johanndelange.blogspot.com/ / AFRIKAANSE OPSOMMING: Die term voyeurisme hoort normaalweg tuis binne die sielkunde, waar dit dui op 'n seksuele abnormaliteit en afwyking. Hierdie siening stigmatiseer egter die fenomeen voyeurisme as 'n perverse handeling. In die eerste hoofstuk van hierdie studie word 'n poging aangewend om die begrip voyeurisme te verruim. Die voyeurisme wys nie net op 'n seksuele afwyking nie, maar vorm 'n sentrale deel van die eietydse samelewing. Die voyeurisme is dus ook van kardinale belang vir die letterkunde. In hierdie tesis word die voyeuristiese elemente in die poësie van Johann de Lange ondersoek. Aan die hand van tekste uit De Lange se oeuvre word die hipotese getoets dat die voyeurisme 'n voorwaarde vir die letterkunde is. Voorts word daar beweer dat die voyeurisme 'n onmisbare funksie in die skryf-en-lees-proses vervul; dat nie net die digter nie, maar sowel die teks as die leser noodwendig deel in die voyeuristiese handeling. Die letterkunde is dus, volgens hierdie hipotese, te danke aan die perspektiwiese kompleksiteit van die voyeurisme. Om die sprong van die sielkunde na die letterkunde te maak, word daar eerstens aandag bestee aan die werk van die teoretici Jean-Paul Sartre, Jacques Lacan en Michel Foucault en die bydraes wat hulle tot die teoretisering oor persepsie lewer. Voorts word vier gedigte geanaliseer met konsentrasie op aspekte van die voyeurisme soos wat dit in De Lange se oeuvre manifesteer en funksioneer, naamlik: die skilderkuns, die fotografie, die religie en die verhouding tussen vader en seun. Hoewel hierdie tesis uitsluitlik oor die werk van Johann de Lange handel, wil dit 'n gesprek oor die voyeurisme in die Afrikaanse letterkunde tot stand bring. / ENGLISH ABSTRACT: The term voyeurism normally belongs to the field of psychology, where it is used to describe a sexual abnormality and deviation. However, this view stigmatises the phenomenon of voyeurism as a perverse act. In the first chapter of this study the author attempts to broaden the notion of voyeurism. Voyeurism not only indicates sexual deviation, it also forms a central part of contemporary society. Voyeurism is therefore also of the utmost importance in literature. In this thesis the voyeuristic elements in the poetry of Johann de Lange are examined. Using texts from De Lange's oeuvre the hypothesis that voyeurism is a condition for literature is tested. It is further argued that voyeurism fulfils an essential function in the reading and writing process; that, not only the poet, but both the text and the reader inevitably share in the voyeuristic action. Literature according to this hypothesis, has its origins in the perspective complexity of voyeurism. To explain the connection between psychology and literature attention is firstly devoted to the works of the theorists Jean-Paul Sartre, Jacques Lacan and Michel Foucault and the contributions they made on perception. Further four poems are analysed in detail, with emphasis on aspects of voyeurism as they manifest and function in De Lange's oeuvre, namely: the art of painting, photography, religion and the relationship between father and son. Although this thesis deals exclusively with the work of Johann de Lange, it wants to bring about a discussion on voyeurism in the Afrikaans literature.

The prevalence of Autism Spectrum Disorder (ASD) and its defining features has been increasingly investigated in genetic syndromes associated with intellectual disability, with syndrome specific profiles reported. The experience of catatonia and other movement disorders in people with ASD has been increasing highlighted within both research and diagnostic guidelines. However, these issues have not typically been investigated alongside other features of ASD within research into genetic syndromes. The first paper in this thesis provides a review of the literature on movement disorders in genetic syndromes associated with ASD, which focuses on the prevalence of reported movement disorders, the methods of assessment used, and the quality of research to date. An empirical study is reported in Paper 2. Within a cohort of individuals with Cornelia de Lange and Fragile X syndromes the prevalence of attenuated behaviour [autistic catatonia] is examined, based on parent/carer report, and the extent to which features of ASD predict later attenuated behaviour is investigated. Paper 3 provides a critical reflection on the first two papers as well as some wider considerations on undertaking research in this area. The results of both the literature review and the empirical study indicated that across a number of genetic syndromes (Angelman syndrome, Cornelia de Lange syndrome, Fragile X syndrome and Rett syndrome) attenuated behaviour [autistic catatonia] and/or movement disorders affect a substantial proportion of individuals. Furthermore, repetitive behaviours, one of the characteristic features of ASD, appear to predict later attenuated behaviour in Cornelia de Lange and Fragile X syndromesThe results presented in this thesis have important implications for the way services support individuals with specific genetic syndromes. Paper 1 confirms the high prevalence of movement problems in Angelman and Rett syndromes, and Paper 2 provides a new insight into movement problems in Cornelia de Lange and Fragile X syndromes. Movement disorders are reported to impact negatively on wellbeing and quality of life in people with ASD, and are likely to have a similar impact on the lives of people with genetic syndromes. Greater awareness and recognition of movement problems in CdLS and FXS is required, and although specialist services may already be aware of some of the above issues, there should be an increased emphasis on ensuring that community services are aware of the needs of individuals with genetic syndromes, including the implications of movement problems for support needs and quality of life.

Universiẗat, Diss--Innsbruck, 2005.

Texte remanié de: Diss.--Hannover--Universität, 2005. / Notes bibliogr. Bibliogr. p. 435-459.