L’holoprosencéphalie (HPE) est la malformation congénitale cérébrale la plus fréquente chez l’Homme. Elle est caractérisée par une non-séparation plus ou moins importante des hémisphères cérébraux. Lorsqu’elle ne provient pas de défauts chromosomiques, une origine génétique est suspectée. Quatorze gènes sont impliqués, appartenant majoritairement aux voies de signalisation SHH, NODAL, FGF et NOTCH. Au total, les mutations retrouvées n’expliquent qu’environ un tiers des cas d’HPE non-chromosomique, et le mode de transmission n’est pas clairement établi. Afin d’améliorer le rendement diagnostique et le conseil génétique auprès des familles concernées, l’équipe GPLD (IGDR) cherche à identifier de nouveaux gènes impliqués. Dans ce but, le séquençage exomique de familles a été initié depuis 2013. Dans une famille consanguine, une mutation homozygote délétère dans le gène STIL a été identifiée. La protéine STIL est impliquée dans l’assemblage du cil primaire par lequel transite le signal SHH, dont la dysfonction est la première cause d’HPE. Dans une autre famille consanguine, une mutation homozygote candidate est présente dans FAT1, protocadhérine impliquée dans le développement cérébral et responsable d’HPE chez les modèles animaux. D’autres familles, non-consanguines, ont été analysées en trio. Les enfants de toutes ces familles portent une mutation dans un gène de l’HPE, héritée d’un de leur parent asymptomatique. Des mutations additionnelles ont été recherchées, en supposant une origine multigénique de l’HPE chez ces enfants. Un digénisme SHH/DISP1 est présent dans l’une d’elles, et des associations de mutations candidates ont été mises en évidence dans les autres familles, dont une impliquant également FAT1. En conclusion, ces travaux apportent de nouveaux éléments pour la compréhension des bases génétiques de l’HPE et notamment de nouveaux arguments en faveur d’une part importante de multigénisme. L’investigation de ces bases génétiques complexes nécessite le développement de nouvelles méthodes d’analyses, qui pourront être utiles à d’autres pathologies du développement pour lesquelles une origine multigénique est suspectée. / Holoprosencephaly (HPE) is the most common developmental disorder affecting the brain in humans. HPE is characterised by a lack of interhemispheric separation, on a varying scale of severity. When HPE is not due to chromosomal aberrations, a genetic origin is suspected. Alterations of fourteen genes have been implicated in HPE, mainly involved in SHH, NODAL, FGF and NOTCH signalling pathways, with an unclear mode of inheritance. In order to increase the molecular diagnosis yield and to improve genetic counselling, the goal of the GPLD team (IGDR) is to identify new genes. In one inbred family, a deleterious homozygous mutation in STIL gene has been identified. The STIL protein is involved in primary cilia assembly, through which SHH signalling transits. In another inbred family, a homozygous candidate mutation was located in FAT1, a protocadherin involved in brain development that causes HPE-like phenotypes in animal models. For other non-consanguineous families, exome sequencing data were analysed in trios. All children of these families have a previously identified mutation in a HPE gene that is transmitted from a healthy parent. The approach consisted in searching for additional genetic events, under the hypothesis of a multigenic inheritance. Thus, a digenic inheritance of mutations in SHH and DISP1 has been identified in one family. Further associations of candidate mutations have been identified in others, one also involving FAT1. In conclusion, this work provides new elements accounting for the understanding of HPE genetic bases and particularly new arguments in favour of a multigenic inheritance. The study of these complex genetics bases requires the development of new analytical methods that could be of use in relation to other developmental disorders in which a multigenic inheritance is suspected.

M.Cur. / The birth of a baby is a life-changing event in a person's life. During this time there are expectations of positive feelings. The new mother experience ambivalent feelings about the new phase in her life. These feelings can range from a feeling of excitement, postpartum-tears, anxiety about the baby's care, depression and psychosis with an onset in the postpartum period. The goal of this research was to identify indicators for postpartum depression, that are present during pregnancy, during the delivery and in the postpartum period, in order to identify and treat a high risk client for postpartum depression in time. In this way mental health will be promoted. In the first part of the research, an exploratory, descriptive design was used within the context of a private and provincial baby clinic on the Westrand. The research firstly consisted of a literature study about the indicators for postpartum depression. A questionnaire was compiled from this literature study and it was used to collect data in a private and provincial clinic. A descriptive and explanatory design was used in the second part of the research study, to determine a connection between the indicators of postpartum depression and a diagnosis of postpartum depression. The test sample comprised of all the women who visited a postpartum baby clinic (private as well as provincial) in the postpartum period, who's baby was six months or younger. The questionnaire was completed with their visit to the baby clinic and then returned to the respective fieldworkers.

Den här uppsatsen fokuserar på kompositören Alexandre Desplats verk i regissören Wes Andersons filmer. Uppsatsen grundar sig i filmmusikens narrativa funktioner och hur dessa står i relation till det visuella. Syftet med uppsatsen har varit att belysa filmmusikens relation till det som syns i bild, resonera kring musikaliska emotioner, semiotik och semantik. Studien har utförts genom att tolka och förstå Desplats kompositioner genom relevanta teoretiska redskap. Det visade sig till slut att Desplats verk har en vägledande och aktiv närvaro i relation till det visuella, musiken kommenterar och för berättelsen framåt. Resultaten av analyserna har varit lyckade i förhållande till syftet, att Desplat och Anderson har ett välfunnet samarbete är en självklarhet i sig men i den här nedbrytande formen framhävs just de detaljer som utgör ett gott samarbete mellan en kompositör och regissör.

No / Wellbeing is a complex construct and to date there has been great inconsistency across measures of wellbeing with respect to their theoretical foundations, dimensions, composition, and psychometric properties. The need for wellbeing measures that have robust epistemological and ontological frameworks and sound psychometric properties is evident as a basis for effective care planning, outcome evaluation and research. The following paper describes the development and psychometric evaluation of the Wellbeing Evaluation Scale (WES), long and short forms, from an analysis of data drawn from a representative population of 203 adults aged 55 years and over. Following an initial pilot study (n = 98), a repeated investigation involved a representative sample of 203 adults over the age of 55 who were recruited from the West Midlands for this study. The findings suggest that the WES is a reliable, valid, and representative measure of wellbeing in adults over 55. It is concluded that the WES can be considered as a reliable tool for the purposes of assessment, care planning and research.

Ce mémoire vise à démontrer de quelle manière les procédés spéculaires présents dans deux films du réalisateur américain Wes Craven, A Nightmare on Elm Street (1984) et Wes Craven 's New Nightmare (1994), révèlent et transgressent les conventions génériques du fantastique, de l'horreur et du slasher film. À ce jour, le travail réflexif de Craven demeure peu étudié par la critique. Bien que plusieurs travaux consacrés aux fictions d'épouvante se soient penchés sur l'oeuvre de ce cinéaste, rares sont ceux qui mentionnent l'importance du motif spéculaire. Or, l'apport de Craven s'étend au-delà de la simple réutilisation des codes de l'horreur; le réalisateur bouleverse les conventions du genre. Par le biais de l'onirisme, le film A Nightmare on Elm Street exploite la qualité réflexive du dispositif cinématographique. Le processus « fictionnalisant » du rêve imitant celui du cinéma, le film propose, au moyen des cauchemars de ses personnages, une réflexion sur la nature des images présentées à l'écran. Ce premier film se trouve enchâssé dans un second, Wes Craven's New Nightmare, dans lequel Craven brise les cadres convenus de la fiction d'horreur et démultiplie les univers diégétiques. Le réalisateur y opère un fantastique horrifiant qui rend explicitement compte de la dichotomie illusion/réalité inhérente au genre, ainsi que de l'incontournable question des frontières et de leur inquiétante perméabilité. Par le truchement de ses diverses manifestations spéculaires, Wes Craven 's New Nightmare met en scène les thèmes chers au cinéma d'épouvante, mais propose en outre une critique iconoclaste de ce genre cinématographique. Notre analyse se base principalement sur une hypothèse énoncée dans l'ouvrage fondateur Le récit spéculaire. Essai sur la mise en abyme, de Lucien Dallenbach, selon laquelle la mise en abyme constitue un code herméneutique à petite échelle permettant l'interprétation de l'oeuvre qui la contient. Nous proposons une étude des divers jeux de miroir -tant esthétiques que narratifs -imbriqués dans ces films, afin d'expliquer de quelle manière ceux-ci déterminent une relecture des codes du cinéma d'horreur, mais également comment ils confrontent le spectateur à sa propre image. Ultimement, nous cherchons à prouver que la mise en abyme, par ses qualités frontalières, constitue une figure fantastique significative ainsi qu'un outil puissant pour la création d'effets horrifiques. ______________________________________________________________________________ MOTS-CLÉS DE L’AUTEUR : A Nightmare on Elm Street, Wes Craven's new nightmare, Wes Craven, Cinéma, Horreur, Spécularité, Mise en abyme.

Gatsrand (as a series of ridges) is not only a well-known geographical feature in the Western Transvaal, but it also features prominently as a definite area in the settlement history of the whites in the Transvaal. In fact, the first farms in this area were registered simultaneously with farms in the neighbouring Mooi River area. Owing to the inhabitants’ agrarian predisposition up to the early years of the twentieth century, agriculture and stock farming formed the basis of the area’s economic infrastructure. Initially, the Potchefstroom market was the nearest outlet for products. Later on, products were also sold in Johannesburg, as well as at Randfontein and Krugersdorp. In the process of the development of this enterprise, stock diseases, droughts, poverty and wars continually set the inhabitants back. Prior to the establishment of gold mines (since 1937) in the northern areas of Gatsrand, which enhanced economic development, the area’s development was mainly dependent on the subsistence needs of the surrounding towns. In this respect, the building of roads to places like Krugersdorp, Randfontein, Pretoria and Johannesburg was beneficial to the Gatsrand area, since all these routes passed through said area. Administrative duties were initially performed by a field cornet and later by a justice of the peace, who was subordinate to the magistrate of Potchefstroom. In a similar way, educational matters were dealt with by the Potchefstroom School Board. Until 1948, with the exception of Klipdrift School, there were only primary schools on several farms in the area – schools that had from one to four teachers. With outbreaks of illness, even the medical services in Potchefstroom rendered help in the Gatsrand area. Inhabitants had to travel to Potchefstroom, some of them covering great distances, if they were in need of medical care and facilities. Initially, the nearest centre for worship was also Potchefstroom. The first congregation in the Gatsrand area was founded in 1926 at Fochville, with boundaries that included the major part of this area. Since 1937, gold mine development provided definite advances in local development. Up to 1948, six towns had been proclaimed, congregations were established, and houses and roads were built to accommodate the growing number of inhabitants. This resulted in the establishment of numerous enterprises. The number of pupils increased and smaller schools had to amalgamate with larger ones. By 1948, it was apparent that the development in the Gatsrand area would be phenomenal due to the rich discoveries of the then established gold mines. / MA (History), PU vir CHO, 1988 / This MA-Dissertation on the history of the Gatsrand up to 1948 originally was written in Afrikaans in 1988. This English translation was decided on to assist researchers, working with regional issues in/on South Africa who's mother tongue is English. The footnotes as well as the source list has not been translated due to the cost in doing so. However, it is trusted that researchers should find their way because more than 50% of the references are in English or could not be titled otherwise as they are archival documents or published literature. Due to new technology, the page numbers of the English version also differ from the original Afrikaans version. The approach to the research must be assessed within the time frame in which it was written and the methodology to regional history utilised, was mainly on that as expressed by VHT Skipp. The author since has extended and refined this model.

Gatsrand (as a series of ridges) is not only a well-known geographical feature in the Western Transvaal, but it also features prominently as a definite area in the settlement history of the whites in the Transvaal. In fact, the first farms in this area were registered simultaneously with farms in the neighbouring Mooi River area. Owing to the inhabitants’ agrarian predisposition up to the early years of the twentieth century, agriculture and stock farming formed the basis of the area’s economic infrastructure. Initially, the Potchefstroom market was the nearest outlet for products. Later on, products were also sold in Johannesburg, as well as at Randfontein and Krugersdorp. In the process of the development of this enterprise, stock diseases, droughts, poverty and wars continually set the inhabitants back. Prior to the establishment of gold mines (since 1937) in the northern areas of Gatsrand, which enhanced economic development, the area’s development was mainly dependent on the subsistence needs of the surrounding towns. In this respect, the building of roads to places like Krugersdorp, Randfontein, Pretoria and Johannesburg was beneficial to the Gatsrand area, since all these routes passed through said area. Administrative duties were initially performed by a field cornet and later by a justice of the peace, who was subordinate to the magistrate of Potchefstroom. In a similar way, educational matters were dealt with by the Potchefstroom School Board. Until 1948, with the exception of Klipdrift School, there were only primary schools on several farms in the area – schools that had from one to four teachers. With outbreaks of illness, even the medical services in Potchefstroom rendered help in the Gatsrand area. Inhabitants had to travel to Potchefstroom, some of them covering great distances, if they were in need of medical care and facilities. Initially, the nearest centre for worship was also Potchefstroom. The first congregation in the Gatsrand area was founded in 1926 at Fochville, with boundaries that included the major part of this area. Since 1937, gold mine development provided definite advances in local development. Up to 1948, six towns had been proclaimed, congregations were established, and houses and roads were built to accommodate the growing number of inhabitants. This resulted in the establishment of numerous enterprises. The number of pupils increased and smaller schools had to amalgamate with larger ones. By 1948, it was apparent that the development in the Gatsrand area would be phenomenal due to the rich discoveries of the then established gold mines. / MA (History), PU vir CHO, 1988 / This MA-Dissertation on the history of the Gatsrand up to 1948 originally was written in Afrikaans in 1988. This English translation was decided on to assist researchers, working with regional issues in/on South Africa who's mother tongue is English. The footnotes as well as the source list has not been translated due to the cost in doing so. However, it is trusted that researchers should find their way because more than 50% of the references are in English or could not be titled otherwise as they are archival documents or published literature. Due to new technology, the page numbers of the English version also differ from the original Afrikaans version. The approach to the research must be assessed within the time frame in which it was written and the methodology to regional history utilised, was mainly on that as expressed by VHT Skipp. The author since has extended and refined this model.

Orientador: Fábio Akcelrud Durão / Tese (doutorado) - Universidade Estadual de Campinas, Instituto de Estudos da Linguagem / Made available in DSpace on 2018-08-19T00:44:26Z (GMT). No. of bitstreams: 1 Ponte_Charles_D.pdf: 5158221 bytes, checksum: 021381a1dcdf598dfa5687c77fa4f959 (MD5) Previous issue date: 2011 / Resumo: Ao longo do último século, o modus operandi da indústria cultural foi responsável por um movimento de padronização dos artefatos culturais, constituindo um eixo tensional entre repetição e inovação que abarca em todas as artes, mas especialmente no cinema, tendo este uma maior necessidade de retorno dos investimentos feitos para sua realização. Dessa forma, considerando o cinema feito nos Estados Unidos como o principal representante do entretenimento fílmico, é natural que esta homogeneização lhe seja mais intensa, um aspecto convenientemente negligenciado pelas críticas especializadas, posto que estas costumam enfatizar, acertadamente, aqueles filmes de maior complexidade, terminando por iludir os leitores acerca da real porcentagem de filmes com tal qualidade. Assim, o objetivo desta tese é observar a composição de uma dessas obras costumeiramente não contempladas pela crítica, a trilogia de horror Pânico (1996; 1998; 2000), dirgida por Wes Craven, partindo da leitura cerrada de seus principais componentes estruturais - enredo, personagens, espaço e foco narrativo - e comparando-a a outros de seu subgênero, para verificar a existência de uma tensão dialética de aproximação ou distanciamento da estandardização das formas diegéticas e como esses movimentos estão relacionados com as estratégias de comercialização dos produtos. Para isso, este trabalho lança mão de um corpo de teorias de diversas áreas, desde a literatura e o cinema até o grupo de pensadores abarcado pelo epíteto Teoria, mas sempre permeado pelo conceito de indústria cultural de Adorno e Horkheimer (1985) e pelas elaborações posteriores de Adorno (2001) sobre do tema. No corpus, por um lado, a tensão entre a repetição das formas e seu rearranjo ocorre em todos os componentes selecionados, de modo que a trilogia Pânico continua a pertencer ao subgênero slasher em sua composição, ao menos na superfície, apesar de conter uma grande parcela de hibridização de outros gêneros, notadamente a estruturação das duas personagens principais, heroína e monstro, bem como de parte de sua découpage; por outro lado, há uma parcela de inovações atribuídas à trilogia, em especial a presença de uma variada veia metaficcional, uma raridade em todo o gênero horror, mas também a diminuição das cenas violentamente explícitas. Contudo, pode-se confirmar, através da interpretação dos resultados, que as modificações permitidas nunca ameaçam a quebra da quarta parede, ou mesmo a expectativa da plateia em relação aos filmes, de modo que se devem considerar praticamente todas as alterações como controladas para emular uma novidade falaciosa / Abstract: Throughout last century, the culture industry's modus operandi was responsible for a standardizing movement in cultural artifacts, constituting a tensional axis between repetition and innovation that embraces all arts, but mainly in film, having the latter a greater need for returns in its production investments. That way, regarding the American cinema as the main representative of filmic entertainment, it is natural that its homogenization is more intense, an aspect conveniently overlooked by specialized critiques, since they tend to emphasize, correctly, those films of higher complexity, ultimately deluding readers about the actual percentage of quality works. Thus, the objective of this dissertation is to observe the composition of one of these usually non critically contemplated ones, the horror trilogy Scream (1996; 1998; 2000), directed by Wes Craven, starting by the close reading of its main structural components - plot, characters, setting and point of view - and comparing it to others pertaining to the same subgenre, in order to verify the existence of a dialectic tension of approximation or distancing to the standardized diegetic forms and how these movements are related to product selling strategies. For doing so, this work makes use of a body of theories from multiple areas, from literature and film studies to the group of thinkers encapsulated under the alias Theory, but always permeated by Adorno and Horkheimer's concept of culture industry (1985), and by Adorno's further elaborations on the theme (2001). In the corpus, on the one hand the tension between formal repetition and its rearrangement occurs in all selected components, so that the trilogy remains as a member of the slasher subgenre, at least in its surface, despite containing a great amount of hybridization, notably by the structuring of its main characters, heroin and monster, as well as part of its découpage; on the other hand, there is a number of innovations attributed to the trilogy, especially the presence of a varied metafictional vein, rare in all of the horror genre, but also the lessening of violently graphic scenes. However, it can be confirmed, through the interpretation of results, that the allowed modifications never threaten the breaking of the fourth wall, or even the audience expectations for the films, in a way that practically all alterations should be considered as controlled to emulate a fallacious novelty / Doutorado / Literatura e Outras Produções Culturais / Doutor em Teoria e História Literária

The South African government recognises the need for export growth to contribute towards economic growth and articulates this in different national policy documents. It is evident that the Western Cape Province also recognises the need for export growth, as the province is facing various economic and socio-economic challenges. Therefore, aligning policies to focus on export promotion which supports the labour intensive sectors within the province by uplifting employment and eradicate poverty. The aim of this study is to determine specifically export market diversification opportunities for the Western Cape Province. The main objective is to determine the Western Cape’s world-wide market diversification opportunities with the highest export potential. The literature underlines the importance of export growth and the benefits of export diversification. It can also be concluded that countries operating in the extensive margin are more likely to generate high economic growth and development opportunities. By implementing export diversification strategies, higher employment levels and output growth can be achieved on a provincial and national level. A three-step methodological process to determine the export market diversification opportunities for the Western Cape Province is used. Firstly, the products in which the Western Cape Province has a revealed export specialisation are determined by using the revealed trade advantage (RTA); secondly, the geographical concentration of the Western Cape’s exports of these products is determined by means of the Herfindahl Hirschman Index (HHI); and lastly, the export market opportunities for the Western Cape Province’s export-orientated products that are geographically concentrated are determined by using the decision support model (DSM). The results of the study identified 188 geographically concentrated export products for the Western Cape and 2 866 realistic product-country level export diversification opportunities. It is recommended that the Department of Trade and Industry (DTI) and the Western Cape trade promotion organisation, WESGRO, in collaboration with the relevant export councils and industry associations, use the results of this study to focus their export promotion and diversification strategies on the identified product-country combinations. / MCom, North-West University, Potchefstroom Campus, 2015

The South African government recognises the need for export growth to contribute towards economic growth and articulates this in different national policy documents. It is evident that the Western Cape Province also recognises the need for export growth, as the province is facing various economic and socio-economic challenges. Therefore, aligning policies to focus on export promotion which supports the labour intensive sectors within the province by uplifting employment and eradicate poverty. The aim of this study is to determine specifically export market diversification opportunities for the Western Cape Province. The main objective is to determine the Western Cape’s world-wide market diversification opportunities with the highest export potential. The literature underlines the importance of export growth and the benefits of export diversification. It can also be concluded that countries operating in the extensive margin are more likely to generate high economic growth and development opportunities. By implementing export diversification strategies, higher employment levels and output growth can be achieved on a provincial and national level. A three-step methodological process to determine the export market diversification opportunities for the Western Cape Province is used. Firstly, the products in which the Western Cape Province has a revealed export specialisation are determined by using the revealed trade advantage (RTA); secondly, the geographical concentration of the Western Cape’s exports of these products is determined by means of the Herfindahl Hirschman Index (HHI); and lastly, the export market opportunities for the Western Cape Province’s export-orientated products that are geographically concentrated are determined by using the decision support model (DSM). The results of the study identified 188 geographically concentrated export products for the Western Cape and 2 866 realistic product-country level export diversification opportunities. It is recommended that the Department of Trade and Industry (DTI) and the Western Cape trade promotion organisation, WESGRO, in collaboration with the relevant export councils and industry associations, use the results of this study to focus their export promotion and diversification strategies on the identified product-country combinations. / MCom, North-West University, Potchefstroom Campus, 2015