La télangiectasie hémorragique héréditaire (HHT) est une maladie rare (1/10.000). Son incidence est plus élevée (pouvant atteindre 1/1000) dans certaines zones géographiques dont la région Poitou-Charentes. Cette maladie autosomique dominante est causée par des mutations d'un des trois gènes identifiés ENG, ACVRL1 et SMAD4 codant pour des protéines de la voie BMP spécifiquement exprimés dans les cellules endothéliales. Le nombre croissant de mutations détectées chez les patients et l'expressivité variable de certaines mutations nous a ammené à déterminer les conséquences de mutations afin d'établir une corrélation génotype/phénotype. Cette corrélation est importante pour le conseil génétique et évidemment le diagnostic prénatal. Dans ce contexte, nous avons étudié aux niveaux cellulaire et moléculaire les effets de plusieurs mutations. L'effet délétère de ces mutations sur la protéine et/ou l'épissage de l'ARN a été évalué. Nous avons montré que sur les 23 mutations d'ACVRL1 : 1) 18 mutations faux-sens affectent la fonctionnalité de la protéine en réponse à BMP9 et 3 mutations sont de simples polymorphismes, 2) la mutation exonique c.733A>G (p.Ile245Val) affecte l'épissage de l'exon 6, 3) La mutation c.1048+5G>A de l'intron 7 en dehors du site consensus induit un épissage aberrant de l'exon 7. En ce qui concerne l'ENG, nous avons analysé 4 mutations et nous avons montré que la mutation c.1088G>A (p.Cys363Tyr) a un impact sur l'activité du récepteur et que les mutations c.1134G>A (p.Ala378Ala) et c.1060C>T (p.Leu364Leu) altèrent l'épissage de l'exon 8. Ce travail montre l'importance de l'étude approfondie de toute nouvelle mutation par des études in silico, in vitro et in cellulo à différents niveaux cellulaires. Des études in vivo ultérieures peuvent compléter et appuyer la stratégie expérimentale que nous avons suivie. / Hereditary hemorrhagic telangiectasia (HHT) is a rare disease (1/10.000). Its incidence is higher in certain geographic areas including the Poitou-Charentes region (1/1000). This autosomal dominant disease is caused by mutations in one of three identified genes ENG, ACVRL1 and SMAD4 encoding BMP pathway proteins specially expressed in endothelial cells. The increasing number of mutations detected in patients and the variable expressivity of certain mutations has taken us to determine the consequences of mutations to establish a genotype/phenotype correlation. This correlation is important for genetic counseling and obviously for prenatal diagnosis. In this context, we investigated the effects of several mutations at the cellular and molecular levels. The deleterious impact of these mutations on the protein and/or RNA splicing was evaluated. We have shown that for the 23 mutations of ACVRL1: 1) 18 missense mutations affect the functionality of the protein in response to BMP9 and 3 are polymorphisms, 2) exonic mutation c.733A>G (p. Ile245Val) affects the splicing of the exon 6, 3) mutation c.1048+5G>A in intron 7 off the consensus site induces an aberrant splicing of exon 7. Concerning the ENG, we analyzed 4 mutations and we showed that the mutation c.1088G> A (p.Cys363Tyr) has an impact on the activity of the receptor and that the mutations c.1134G> A (p.Ala378Ala) and c.1060C> T (p.Leu364Leu) inhibit the splicing of exon 8. This work shows the importance of the comprehensive study of any new mutation by in silico, in vitro and in cellulo studies at different cellular levels. The in vivo studies can further complement and support the experimental strategy that we followed.

Doctor of Philosophy / Department of Grain Science and Industry / Finlay I. MacRitchie / Novel genetic materials were used to deduce gluten protein composition-functionality relationships. The Pegaso bread wheat near-isogenic lines (NILs) included addition, variation and/or deletion of major loci coding for HMW-GS, LMW-GS and gliadins. The waxy wheat lines (Svevo and N11 set) included wild, partial and complete waxy lines. Triticale translocations include 1R.1D and 1A.1D lines (GDS7, Trim, Rhino and Rigel sets) with HMW-GS 5+10 and 2+12. The main goal of the study was to establish the usefulness of NILs as appropriate materials to investigate the structure-function relationships of wheat proteins and to evaluate the performance of unique triticale translocations and waxy wheat lines. Effect of genetic variation on phytochemical (phenolic acid and policosanol) contents was also studied. Innovative methods like MALLS, Lab-on-a-chip and micro (10 g) baking were utilized along with traditional analytical methods. Results confirmed the potential of using NILs in understanding the effects of certain proteins coded at specific loci that might often be targeted in breeding programs. Removal of expected chain terminators at Gli-1/Gli-2 loci causes a shift in MWD to higher values, reflected in higher UPP and dough strength. Lines with HMW-GS 5+10 were clearly separated from 2+12 lines in terms of dough strength and UPP. The present study obtained evidence that modified ω-gliadins acts as chain terminators and cause reduction of protein polymer size and thus shifts in MWD. Marked differences in terms of milling characteristics, protein composition and ultimately in end-use functionality were observed with various waxy wheat null lines. Loaf volumes with waxy wheat flour alone were higher than a 50% blend with commercial wheat; however, breads were unacceptable to consumers in all aspects. Poor milling quality, very low mixing times with low bread loaf volumes were typical of all the triticales studied. However, translocation of the HMW-GS from wheat chromosome 1D increased dough strength, particularly the HMW-GS 5+10. Among the phytochemicals studied, double nulls at Gli-1 loci of Pegaso NILs had the highest total policosanols and total phenolic acid contents.Slight variation to wheat phenolic acid composition and contents were observed with waxy wheat and triticale lines.

This study sought to understand factors driving repurchase intentions for consumer electronics (CE) hardware and in particular mobile phones. The outcome of the study was expected to be of interest in academia and practice because it develops upon existing literature and identifies actionable variables that could be used to optimise market offerings. Based on a literature review it was hypothesised that the intent was driven by hedonic and utilitarian factors. These included conspicuousness and visibility; product bundling; reliability; technological features, usability of the product and the buyers’ age. The study tested these hypotheses using primary data. The method was employed to confirm the postulated drivers as well as to determine the direction of the effects. Data collection was conducted through a cross sectional internet survey enumerated in August 2010. The survey reached a broad sample of 144 responders. The analysis supported two of the six hypothesised drivers. The supported drivers were conspicuousness and usability. The recommendation was therefore to encourage the CE industry to focus on creating aesthetically appealing, fashionable devices that were intuitively easy to use requiring minimal assistance or product manuals. It also recommends that less emphasis be placed on durability, advanced features, on bundling additional extras and on targeting particular age groups. Copyright / Dissertation (MBA)--University of Pretoria, 2012. / Gordon Institute of Business Science (GIBS) / unrestricted

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This study examines how costume design is used as a narrative and functional part of video game character design. The purpose being how costume design is currently utilized, what common design trends can be found and in which instances costume design goes against the functionality and believability of the character. One character from each top selling single player third person game between the years 2015-2018 were chosen for the sample. A character analysis and a coding scheme were created to find common design trends used to visually display information to players. The results showed a prevalent use of real-world cues and signs to visually display instant information. Contradicting real-world cues used together can show a divergence from reality, but even with a lack of real world examples a uniform design language can be seen. The results also show the use of objects with contextual meaning being an important part of costume design, giving it more depth. The instances found of contradicting costume design were predominantly used to make the character stand out or to emphasize their attractiveness. / Denna studie undersöker hur kostymdesign används som en narrativ och funktionell del inom design av spelkaraktärer. Syftet är att se hur kostymdesign nuvarande används, vilka vanliga design trender som kan hittas och vilka instanser som finns där kostymdesign går emot trovärdighet och funktionalitet. En karaktär från varje toppsäljande spel med enspelarläge och tredjepersons perspektiv mellan år 2015-2018 valdes. En karaktärsanalys och ett kodschema skapades för att hitta gemensamma design trender som används för att visuellt förmedla information till spelare. Resultatet visar en övergripande användning av signaler från verkligheten för att visuellt förmedla omedelbar information. Motsägande verkliga signaler som visas tillsammans kan påvisa en avvikelse från verkligheten men även scenarion med en avsaknad av verkliga exempel kan ett uniformt designspråk ses. Resultaten visade även den vikt som läggs på användningen av objekt med kontextuell mening för att ge kostymdesigner mer djup. Instanser där kostymdesign sågs som motsägande var mestadels för att få karaktären att stå ut eller för att framhäva attraktiva drag.

This research proposes a framework for collaborative care in which the performance of healthcare teams is measured in an objective and quantifiable manner. We call our framework the Performance Management Framework for Collaborative Care (PMFCC). The PMFCC was developed using insights from agile software engineering, business, and healthcare and consists of three Components: the Collaboration Space Ontology Template, the Agile Process Model, and the Performance Management Model. We developed a set of example Artifacts based on our framework to better support performance management of collaborative care teams: Agile Treatment Plan, Agile Collaborative Dashboard, ICF Patient Card and Collaborative Care Model Canvas. The framework and associated Artifacts were developed iteratively using Design Science Research Methodology. Attention Deficit Hyperactivity Disorder was used as an example relevant to performance management of collaborative care teams. A Clinical Vignette drawn from the healthcare literature was used to develop a set of scenarios to test and evaluate the PMFCC and its Artifacts at each iteration. A panel of experts was established at the end of our research to review our results and provide structured and unstructured feedback based on a set of evaluation criteria drawn from the relevant academic literature. The PMFCC was also compared to related works from the literature.

This work explores, analyzes and rate infuence of VoIP attacks on open source pbx functionality. It describes how voice over IP attacks are achieved according to security standards. There are described concepts and basics of VoIP networks with orientation on facts necessary to understand analyzed actions and measurements in theoretical part. In practical part, there is described realization of attack tests according to instructions with first orientation on initial checking of testing device, pbx’s and security attack possibilities and then complex creation and testing of attack scenarios types such as fuzzing and denial of service attacks.

This research set out to explore the financial management by SGBs in public primary schools. The challenges as they were experienced by SGBs were identified. This study revealed that some public schools SGBs are dysfunctional with regard to the management of finances. The understanding of roles and responsibilities pertaining to the management of finances is insufficient. SGBs are still battling to understand the roles especially of the chairperson, treasurer and the secretary. There is a lack of monitoring and understanding of roles. Understanding of the financial legislative framework is still a challenge to rural public schools. Knowledge and interpretation of the other policies and regulations, Acts and prescripts is a major concern. There are transgressions of, and non-compliance with the financial legislative framework. The study further found that the SGBs’ perceptions, experience, feelings and thoughts with regard to management of finances are such that their lack of knowledge and skills in finance due to inadequate training makes them feel uncertain and unsure of their competence to manage finances. The quality of the training that they have received does not adequately empower them to manage finance successfully as it is offered by incompetent people. The contents of the prescripts, circulars, manuals and Acts are not clear at all to them. The English language used in the documents makes it especially difficult for SGB members, especially the parent component, to grasp what is needed. In some of the schools investigated, budgeting processes are done unilaterally by the principals who dominate every sphere of governance and relevant stakeholders are not involved. The PED should bear in mind that an investment in SGB training is an investment in their empowerment and decentralization of finances to public schools. If well trained SGBs could render a better service in managing public finances. A procurement management system should be developed, monitored and evaluated from the circuit level. Schools must be encouraged to create procurement clusters or budget clubs. Lengthening the time in office for the SGB from three to four or even five years will add value for money in the form of human investment. The issue of continuity must be ensured after each and every election or four years of re-election, especially in the portfolio of treasurers. This will enable governors to develop their experience over a longer period. During this time there should be continuous training as stipulated in section 19 of SASA. The PED should consider incentive programmes or honoraria for SGB members as a sign of acknowledgement, based on performance, to improve the quality of their effectiveness and efficiency in the management of school finances. The department must develop a financial assessment programme and remediation initiatives to decisively respond to schools that are dysfunctional in terms of financial management. Copyright / Dissertation (MEd)--University of Pretoria, 2011. / Education Management and Policy Studies / unrestricted

During the modern times, innovators and researchers developed a key technology known as Artificial Intelligence (AI) Marketplace which leverages the power of AI to efficiently utilize the data generated by millions of devices to create new and better services and software products. H2020 Bonseyes is one such project that provides us a collaborative cloud based model of the AI marketplace for the users who generally don’t have access to large data sets, algorithms etc by allowing them to collaborate which each other and exchange the software artifacts. Collaboration leads to issues related to authentication and authorization which are addressed by Public Key In- frastructure(PKI).The main component of the PKI is the Certificate Authority which acts a anchor of trust, whose architecture is designed to be centralized. Centralized architecture is prone to many attacks and also failures which makes it vulnerable and weak.The adverse effects of the CA based PKI can be avoided by implementing a distributed PKI.This thesis focuses on a hybrid methodology consisting of Qualitative and Quanti- tative analysis by performing a literature review for accumulating knowledge from the Ocean Protocol which is a decentralized AI marketplace.The thesis aims to design and implement the framework used in the ocean protocol and evaluate its performance.The thesis also aims to develop a reference framework to be compatible with the Bonseyes Project. Moreover, our research also provides the reader with the concepts and technologies used in other implementations of distributed PKI.

The purchasing process has in many ways been affected by the digitalization. As the digital commerce is growing in market shares the physical stores are struggling. The mobile phone has become a central point of purchasing as digital technologies has become an important factor in creating customer value. In addition, social platforms have made an entrance in e-commerce, creating social commerce. First by being a platform for information and inspiration. But with recent launches the social platforms are releasing functions to in a wider sense boost selling activities and creating application design for a more seamless shopping experience. At the same time Influencer marketing is a rapidly growing industry that businesses invest more in every year.  The purpose of this thesis is to create a better understanding for social commerce as business model and how the functionality supports and limits the interaction between commercial actors and the private users in activities of the purchasing process. The question was investigated based on the perspective of the relationship between commercial actors and their followers. Where design is studied based on factors of functionality, usability and sociability in relation to purchases- and sales activities. The study will also focus on how the framework is set for the activity and interaction that takes place on the social platform in social commerce.To answer the research question, a netnography was performed and though observations of businesses and influencers Instagram accounts, to conduct a mainly qualitative data acquisition. Where the purpose is to observe the behavior and activities that occurs on the platform and set them i relation to the technical aspects of the platform.The results of this thesis show that the commercial actors; businesses and influencers have different strategies supporting their commercial interests on the social platform: The Seamless strategy (businesses) and the Social strategy (influencers). Both supported by the platforms functionalities, the businesses, business model tend to be more vulnerable to the potential changed conditions that the platform's framework entails.