L’acétylation des résidus de glucosamine terminaux par la N-acétyltransférase lysosomale (HGSNAT) est une étape essentielle de la dégradation catabolique de l’héparan sulfate. Des défauts dans cette réaction causent une maladie de surcharge lysosomale autosomale récessive rare : le désordre de Sanfilippo type C (SFC). À ce jour, 54 mutations ont été rapportées chez des patients SFC, incluant 13 mutations des sites d’épissage, 11 insertions et délétions, 8 mutations non-sens, 18 mutations faux-sens et 4 polymorphismes, avec différentes manifestations phénotypiques. Nous avons identifié 10 d’entre elles et effectué une étude exhaustive portant sur l’éventail des mutations SFC, leur distribution dans la population de patients, ainsi que leur impact potentiel sur la structure de la HGSNAT. Les erreurs d’épissage, les mutations non-sens, les insertions et les délétions devraient toutes entraîner un ARN non fonctionnel qui est rapidement dégradé par des mécanismes de contrôle qualité cellulaire. Les 4 polymorphismes identifiés sont des changements d'acides aminés qui ne modifient pas l'activité enzymatique, la glycosylation ou la localisation et n'ont donc pas de signification au niveau clinique. Au niveau des enzymes, les polymorphismes sont des changements d’acides aminés qui n’affectent pas la fonction, mais dans un contexte d’acides nucléiques ils peuvent être considérés comme des mutations faux-sens. Les dix-huit mutations faux-sens qui ont été exprimées ont produit des protéines inactives, en raison d'erreurs dans leur repliement. Ceci expliquerait donc la progression sévère de la maladie chez les personnes porteuses de ces mutations. Les protéines mutantes mal repliées sont anormalement glycosylées et conservées dans le réticulum endoplasmique. La thérapie par amélioration de l’activité enzymatique par des chaperonnes est une option thérapeutique potentielle, spécifiquement conçue pour exploiter l'activité enzymatique résiduelle de mutants mal repliés, afin d’éliminer les substrats stockés. Nous avons démontré que le traitement de plusieurs lignées de fibroblastes de patients SFC avec le chlorhydrate de glucosamine, un inhibiteur spécifique de la HGSNAT, a partiellement restauré l’activité de l'enzyme mutante, fournissant une preuve de l’utilité future de la thérapie par des chaperonnes dans le traitement de la maladie de SFC. / The acetylation of terminal glucosamine residues by lysosomal N-acetyltransferase (HGSNAT) is an essential part of the catabolic breakdown of heparan sulfate. Defects in this reaction result in the rare autosomal recessive lysosomal storage disorder Sanfilippo syndrome type C (SFC). To date 54 mutations in SFC patients have been reported including 13 splice-site mutations, 11 insertions and deletions, 8 nonsense, 18 missense and 4 polymorphisms, with different phenotypic manifestations. We have identified 10 of them and conducted a comprehensive review discussing the spectrum of Sanfilippo C mutations, their distribution within the patient population as well as how the mutations could potentially affect the structure of HGSNAT. Splicing errors, nonsense mutations, insertions and deletions were all predicted to result in non-functional RNA which is rapidly degraded by cellular quality control mechanisms. The 4 identified polymorphisms resulted in amino acid changes which did not affect the enzyme activity, glycosylation or targeting and were therefore not clinically significant. Polymorphisms, in the context of enzymes are amino acid changes not affecting function, but in the context of nucleic acids can still be considered as missense mutations. Eighteen missense mutations were expressed and shown be inactive due to errors in protein folding providing an explanation for the severe disease progression seen in individuals with these mutations. Misfolded mutants were abnormally glycosylated and retained in the endoplasmic reticulum. Enzyme enhancement/chaperone therapy is a potential treatment option specifically designed to exploit the residual enzyme activity of misfolded mutants in order to clear stored substrates. We demonstrated that treatment of several fibroblast lines of SFC patients with a specific inhibitor of HGSNAT; glucosamine-hydrochloride partially rescued mutant enzyme activity providing a proof of principle for the future use of chaperone therapeutics in the treatment of SFC.

The aim of this paper is to examine how the religions Hinduism and Buddhism compared to Christianity are portrayed and described, in a number of Swedish text books. The research questions used in order to reach the aim of the study are: How are Hinduism and Buddhism portrayed in comparison to Christianity in textbooks, Are the religions described in relation to a Christian norm in the textbooks and in what ways, and How can the portrayal of the religions be understood using theories of religious change in a modern Swedish context? The study is based on four Swedish text books used in Swedish primary school and upper secondary school. All of the books are written in correlation with the latest curriculum for the Swedish school system. The research method used in this study is qualitative content analysis. The theoretical framework is based on Kumashiro’s theory about anti-oppressive pedagogy combined with studies of religious change in modern day Sweden. The result of the study shows that the descriptions of the religions Hinduism and Buddhism are different from how the authors describe Christianity. The authors mostly point out and focus on the philosophical sides of Hinduism and Buddhism, while the main focus in the texts about Christianity is on Christian history. Hindu- ism and Buddhism tend to be described through the lenses of stereotypes which are also upheld by the fact that some of the authors gives a more nuanced picture of Christianity. Most of the authors agree on that religion in the Western world and especially in Sweden is a private matter. When the authors describe the religions in their original countries the descriptions and portrayals vary and the religions are described both as private and public.

Proportionalitet är ett centralt begrepp i skolmatematiken. Begreppet introduceras i de lägre stadierna och återkommer i så gott som samtliga kurser från årskurs 9 tillsista kursen på gymnasiet. Det övergripande syftet med denna studie är att undersöka hur det matematiska begreppet proportionalitet hanteras i den svenska gymnasieskolan. En generell problematik kopplad till detta syfte är hur skolans styrdokument realiseras i läromedel och nationella prov. Fokus för denna avhandling har varit hur proportionalitet hanteras i det svenska gymnasiet i kursen Matematik A i några läromedel och nationella prov. För att undersöka detta utvecklades ett analysverktyg utifrån det teoretiska ramverket i ATD (Anthropological Theory of the Didactic). Av intresse är här relationer mellan de olika nivåerna i den didaktiska transpositionen, som berör just hur skolans styrdokument realiseras i läromedel och nationella prov. För det empiriska studiet av materialet användes från ATD begreppet matematisk organisation, genom att använda ett analysverktyg för att granska typer av uppgifter om proportionalitet, lösningstekniker och teoretiska modeller för proportionalitetsbegreppet. De data som presenterats i denna studie ger en ganska ostrukturerad bild av de matematiska organisationer av begreppsområdet proportionalitet som presenteras i läromedel och i nationella prov och de ser även olika ut när det gäller hur proportionalitet hanteras i läromedlen respektive det nationella provet för Matematik A. Resultatet visar att ungefär var fjärde uppgift i de studerade kapitlen och de nationella proven berör proportionalitet men att begreppet hanteras ensidigt vad avser uppgiftstyp. Skillnader observerades mellan läromedel och nationella prov när det gäller hur lösningstekniker rekommenderas för olika typer av proportionalitetsuppgifter. De två teoretiska modeller för proportionalitet som har undersökts, dvs. statisk och dynamisk proportionalitet, finns representerade i ungefär lika omfattning i både läromedel och nationella prov. Vid uppgifter inom geometri handlar det dock ofta om statisk proportionalitet medan det inomområdet funktioner är vanligare att använda dynamisk proportionalitet. Lärare bör få kunskap om skillnader mellan läromedel och läroplaner, och hur dessa tolkas i nationella prov, så att de i sin verksamhet kan välja det undervisningsinnehåll, inklusive övningsuppgifter, som ger en god variation för eleven kopplat till kursplanernas mål / Proportionality is a key concept in school mathematics. It is introduced in the primary grades, and reappears in almost all mathematics courses from Grade 9 to the last course in upper secondary school. The overall aim of this study is to investigate how the mathematical concept of proportionality is handled in the Swedish upper secondary school. A general problem connected to this end is how the national curriculum is realised in textbooks and national examinations. The focus of this thesis is on how proportionality is handled in the first Swedish upper secondary course in mathematics in some textbooks and national examinations. To examine this an analysis tool based on the theoretical framework of the ATD (Anthropological Theory of the Didactic) was developed. Of interest here are relations between the different levels in the didactic transposition, concerned with exactly how the national curriculum is realised in textbooks and national examinations. For the empirical study of the material the ATD concept of mathematical organisation was used, employing an analytical tool to examine the types of tasks dealing with proportionality, techniques for solving these tasks, and theoretical models for the concept of proportionality. The data presented in this study gives a fairly unstructured picture of the mathematical organisations of the conceptual field of proportionality, as presented in textbooks and in the national tests. They also look different when it comes to how proportionality is handled in the textbooks and the national test for "Matematik A". The result shows that about every fourth task of the chapters and the national tests studied involved proportionality, but that there was a low variation in terms of types of tasks. Differences were observed between textbooks and national tests in terms of how solution techniques are recommended for different types of proportionality tasks. The two theoretical models of proportionality that were studied, ie. static and dynamic proportionality, are represented to approximately the same extent in both textbooks and national examinations. In geometry, it is often static proportionality, while in the field of functions it is common to use dynamic proportionality. Teachers should have access to knowledge of the differences between textbooks and curricula, and how they are interpreted in the national tests, so that they can make deliberate choices in their teaching activities, including exercises, to support a good variety for students linked to curriculum objectives.

Undersökningen syftar till att jämföra två olika urvalssystem för officersprogrammet. För detta syfte ställs det gamla respektive det nya urvalssystemet mot kadetternas studieresultat. Urvalskriterierna till dessa urvalssystem korreleras mot studieresultatet i en korrelationsmatris. Därefter undersöks de uppmätta sambanden medelst semi-partiala korrelationsmått och konfidensintervall. Detta skapar belägg för att det föregående urvalssystemet var effektivare än den nya för att välja ut kadetter med förmåga att tillgodogöra sig utbildningen. Det urvalskriterium med starkast samband med studieresultatet är gymnasiebetyget, vilket även är beprövat i civila sammanhang. Vill Försvarsmakten premiera individer som har bättre förutsättningar för att tillgodogöra sig den gemensamma teoretiska utbildningen vid officersprogrammet bör den nuvarande viktningen av urvalssystemet ändras för att premiera gymnasiebetyget. / The aim of this study was to compare two different systems for selection criteria for the Swedish officers’ programme. In order to compare the old respectively the new system for cadet selection, the cadets’ achievements were compared to their selection criteria. The systems selection criteria were correlated to the cadets’ achievements in a correlation matrix. Thenceforth the connections were further investigated by semi-partial correlations and confidence intervals. In the study, there is evidence which indicates the previous system’s superior effectiveness compared to the new system; for example, regarding selection of cadets likely to benefit from the Programme. The selection criterion with the strongest connection to the cadet achievement was the cadets’ high school grades, which also seems to be a good indicator for predicting student achievement in civilian schools. If the Swedish Armed Forces want to enhance future cadets’ study capabilities, an advised method of achieving this would be to augment the significance of high school grades for the selection criteria.

Det är ofta ett svårt beslut för en kommun att ur ett ekonomiskt perspektiv bestämma om gamla skolor ska renoveras eller om det ska byggas nya. Om kommunen väljer att bygga en ny skola är det många olika kriterier och intressen som ska beaktas. Utbildning är även en mänsklig rättighet och det är av stor vikt att alla barn har tillgång till grundskoleutbildning. Därför är placeringen av skolan ett av de viktigaste besluten en myndighet ska fatta. Geografisk informationsteknik (GIT) är ett snabbt, behändigt och ekonomiskt verktyg för att analysera den variation av problem som kan uppstå inom samhällsplanering. GIT kan även hantera stora mängder av rumsliga och attributdata som är hämtade från flera olika källor. Kombinationen av geografiska informationssystem (GIS) med multikriterieanalyser (MKA) används ofta för att lösa problem inom flera olika områden. Denna studie har som mål att lokalisera en plats i Mora tätort där det är lämpligt att uppföra en högstadieskola. Studien strävar efter att exemplifiera hur MKA kan användas av kommuner för att lokalisera lämpliga områden för nya skolor inom småstäder. För att kunna genomföra studien har intervjuer med lärare och en sakkunnig genomförts för att få olika synvinklar på rangordningen av för studien relevanta kriterier. Detta har sedan legat som grund för viktningen av samtliga faktorkartor för att kunna identifiera vilka som har en större eller mindre betydelse för skolans plats i staden. Resultatet från intervjuerna och MKA visar att de tillfrågade generellt ger demografiska förhållanden en stor betydelse och samtidigt ger jordarter samt marklutning en lägre prioritering. Vad gäller övriga kriterier varierar prioriteringen mellan respondenterna, men resultatet från MKA utpekar trots meningsskiljaktigheterna ut samma område som det mest lämpliga för en högstadieskola. Förutom den mest lämpliga platsen presenteras även två alternativa lokaliseringar för en ny skola i varje resultatkarta. Den ena alternativa platsen lokaliseras till samma område oavsett individuell viktning, det andra alternativet lokaliseras till olika platser beroende på vilken viktning som använts i MKA. En känslighetsanalys har genomförts i studien för att undersöka om resultatet kan anses vara robust. Detta har genomförts genom att invertera vikterna som inhämtats från intervjuerna och sedan genomföra ytterligare MKA. Känslighetsanalysen visade att resultatet är robust eftersom områdena med högsta värdet i resultat kartan även har högsta värdena i känslighetsanalysen. / It is common that municipalities find it difficult to decide if an old school should be renovated or if it is more economically sustainable to build a new school. If the municipality decides to build a new school, several different criteria and interests must be considered. Education is a human right and children's access to primary education is very important. Therefore, the decision of where to locate a school is one of the most important decisions authorities can make. Geographical information technology (GIT) is a fast, convenient and economical tool that can be used to analyse a variation of different problems that may occur in spatial planning. GIT can store great numbers of spatial and attribute data that are collected from different sources. The combination of geographical information systems (GIS) and multi-criteria decision analysis (MCDA) is often used to solve different kind’s problems that occur in many fields. GIS-based MCDA can be applied to the planning of garbage disposal and transports. The aim of this study is to locate an area within the urbanarea of Mora that is suita- ble for a new school. The study strives to set an example of how MCDA can be used by municipalities to find suitable locations for schools in a small city. To implement this study interviews with teachers and an expert was performed. This resulted in different perspectives on the ranking of relevant criteria. The answers from the interviews have then been used to the weighting of every factor map to identify which should have a greater or less importance for the school's location in the city. The result from the interviews and MCDA shows that generally the respondents give the demographical relations a great importance meanwhile soils and ground elevation usually receive a lesser importance. The priority of the other factors differed between the respondents, but the resulting MCDA still identifies the same area as most suitable for a new school. Also, two alternative localizations were located and presented. The first alternative location was located to the same area even though the weights were different. But the second alternative was located to different areas depending on which weights that were used in the MCDA. A sensitivity analysis was performed in the study to test if the results are robust. This is done by inverting the weights that was obtained from the interviews and doing another MCDA. The sensitivity analysis showed that the result was robust because the same areas as in the main result is presented as appropriate.

Orientador: Antonio Carlos Ferreira Seridonio / Banca: Ricardo Egydio de Carvalho / Banca: Rafael Zadorosny / Resumo: Nós investigamos teoricamente uma cadeia topológica de Kitaev conectada a dois pontos quânticos (QDs) hibridizados a terminais metálicos. Neste sistema, observamos o surgimento de dois fenômenos marcantes: (i) uma decriptografia do Férmion de Majorana (MF), que é detectado por meio de medições de condutância devido ao estado de vazamento assimétrico do qubit de MFs nos QDs; (ii) criptografia desse qubit em ambos os QDs quando o vazamento é simétrico. Em tal regime, temos portanto a criptografia proposta, uma vez que o qubit de MFs separa-se nos QDs como estados ligados no contínuo (BICs), os quais não são detectáveis em experimentos de condutância / Abstract: We theoretically investigate a topological Kitaev chain connected to a double quantum-dot (QD) setup hybridized with metallic leads. In this system, we observe the emergence of two striking phenomena: i) a decrypted Majorana Fermion (MF) - qubit recorded over a single QD, which is detectable by means of conductance measurements due to the asymmetrical MF-leaked state into the QDs; ii) an encrypted qubit recorded in both QDs when the leakage is symmetrical. In such a regime, we have a cryptography-like manifestation, since the MF-qubit becomes bound states in the continuum, which is not detectable in conductance experiments / Mestre

Orientador: Jandira Líria Biscalquini Talamoni / Banca: Haydee Torres de Oliveira / Banca: Maria de Lourdes Spazziani / Resumo: Uma das propostas presentes neste estudo foi identificar como e sob quais concepções de Educação Ambiental (EA) vinham sendo desenvolvidas as atividades relativas a esta temática, por parte da Secretaria Municipal de Meio Ambiente (SMMA), das escolas da rede pública municipal de ensino e das empresas que atuam no desenvolvendo o ecoturismo no município de Brotas, SP. Também foi investigado se, neste sentido, havia alguma articulação entre estas diferentes instituições, considerando-se que Brotas, desde 2007, aderiu ao Programa Estadual Município Verde Azul e que já alguns anos é conhecido em função do seu potencial para o ecoturismo, levando em conta que tais situações proveem a efetivação de ações voltadas para a EA. Nesta pesquisa qualitativa os dados foram coletados mediante a aplicação de questionário aos professsores da escolas envolvidas, de entrevistas realizadas com a diretoras destas e com os representantes da SMMA e das empresas, da consulta a documentos oficiais do município e aos Planos de Ensino das escolas, além da observação em campo e registro de situações e fatos considerados relevantes. Os resultados foram analisados e interpretados mediante a triangulação dos dados e análise de conteúdo, e discutidos à luz de referenciais teóricos da EA crítica. Verificou-se que as concepções de EA apresentadas pelas diferentes instituições eram as mesmas, ou seja, sob uma perspectiva de EA tradicional, que orientava o desenvolvimento de atividades pontuais e de carater preservacionista. Não se evidenciou articulação ou parcerias entre as instituições investigadas, que possibilitaram sobre as reais necessidades do município e a proposta de projetos que atendessem as tais demandas. Foi evidente a necessidade de se repensar a formação inicial e continuada dos professores, visando prepará-los para uma abordagem... (Resumo completo, clicar acesso eletrônico abaixo) / Abstract: One of the proposals, contained in this study was identifying how and under which concepts of the environmental education (EE) that have being developed with related activities for this theme with the contribution of the "Secretaria Municipal de Meio Ambiente" (SMMA) also with the contribution of public schools and business that focus on developing ecotourism in Brotas, SP. It was also considered in this sense, if there was any articulation between institution; considering that Brotas, since 2007, joionted the State Program Município Verde Azul, and that in a few your already, it is recognized for its potential for ecotourism, taking into account that those situation predict the effective action toward the EE. In this qualitative research, the data was collected with the use of a questionnnaire applied to the teachers of those schools involved in the project, also with the representatives of SMMA and involved business, and by consulting official documentation of the town and the "Planos de Ensino' of the schools. As well as with the observation in campus and registry of the situation and facts considered relevant. The results were analyzed and interpreted with a triangulation of the data, analyses of context, and discussed in the light of the theoretical references of critical EE. It was noticed that the perspective of EE developed in different institutions was the same, in other words, one perspective of the tradition of the EE, which guided the developed of exact activities and the character preservationist. It was not noticed however, any articulation or partnership between the institutions that was being investigated that would enable reflexition about the real necessities of the town and the project that answered those demands. The need for rethinking the initial formation and continuous formation used by the theachers... (Complete abstract click electronic access below) / Mestre

Orientador: Antonio Carlos Ferreira Seridonio / Banca: Valdeci Pereira Mariano de Souza / Banca: Claudio Luiz Carvalho / Resumo: Nós estudamos teoricamente como o calor e a eletricidade são afetados pela sobreposição de dois férmions de Majorana (MFs, de Majorana fermions em Inglês), os quais estão isolados nas bordas de um fio topológico de Kitaev, em particular, na forma de "ferradura". É considerado que esse fio está assimetricamente acoplado a um único ponto quântico (QD, de Quantum dot em Inglês) hibridizado com contatos metálicos. Em baixas temperaturas e dependente do nível de energia desse QD, nós mostramos que ao ajustar a assimetria acima, as respostas ressonantes das condutâncias termoelétricas mudam inesperadamente de forma drástica. Assim, propomos como aplicação, um sintonizador termoelétrico em nanoescala assistido por MFs / Abstract: We study theoretically in a topological U-shaped Kitaev wire, with Majorana fermions (MFs) on the edges, how heat and electricity are affected by them when found overlapped. The asymmetric regime of their couplings with a single quantum dot (QD) hybridized with metallic leads is considered. At low temperatures and dependent upon the QD energy level, we show that by tuning this asymmetry, the resonance positions of the thermoelectrical conductances change drastically. Thereby, the tuner of heat and electricity here proposed is constituted / Mestre

No description available.

Resumo: O objetivo neste estudo foi avaliar as diferenças no espaço aéreo faríngeo em crianças com diferentes padrões faciais. Foram avaliadas as tomografias computadorizadas de feixe cônico de 98 indivíduos em crescimento, com idade média de 8,9 anos, divididas por sexo e faixa etária, e subdivididas de acordo com o padrão de crescimento (horizontal, vertical normal e produtores) e tipo de má oclusão (Classe I e Classe II). Utilizando um programa tridimensional, foram analisados o volume, área sagital, menor área de seção transversal e as dimensões ântero-posteriores da faringe superior e inferior. As dimensões ântero-posterior da faringe superior e inferior foi significativamente menor em indivíduos com Classe II em crianças na faixa etária entre 9 a 11 anos e a faringe superior em foi significativamente menor em crianças na faixa etária entre 5 e 7 anos com padrão de crescimento vertical. Porém, quando a faringe foi avaliada tridimensionalmente, não foram encontradas diferenças nas demais dimensões sugerindo que diferenças no padrão vertical e no tipo de má oclusão ântero-posterior (Classe I e II) não influenciam as dimensões da faringe. Não foi encontrado dimorfismo sexual. A região de maior constrição da faringe esteve presente mais freqüentemente na orofaringe (86%). Embora as dimensões lineares possam variar entre os diferentes padrões faciais, quando avaliadas tridimensionalmente, elas não foram influenciadas pelas diferentes morfologias faciais / Abstract: The aim of this study was to assess the differences in pharyngeal airway space in children with different facial patterns. Cone-beam computed tomography records of 98 growing patients with mean age of 8.9 years divided by sex and age groups and subdivided according to growth pattern (horizontal, normal and vertical growers) and type of malloclusion (Class I and Class II) were evaluated .Using a 3-dimensional virtual program the volume, sagital area, smallest cross section area, anteroposterior dimensions of superior and inferior pharynx were obtained. The anteroposterior linear dimensions of superior and inferior pharynx in children with 9 to11 years was significant smaller in patients with Class II relationship but in 3D evaluation differences were not found suggesting that anteroposterior malocclusion do not influence pharynx dimensions. The anteroposterior linear dimensions of superior , pharynx in children with 5 to7 years was significant smaller in patients with vertical growth pattern when compared to normal growers, but in 3D evaluation differences were not found suggesting that vertical pattern do not influence pharynx dimensions. No sexual dimorphism was found. The most constricted region of pharynx were mostly found at oropharynx(96%).Although linear dimensions can vary among different facial patterns, the 3-dimensional dimensions weren't influenced by different facial morphologies / Orientador: Luiz Cesar de Moraes / Coorientador: Weber José da Silva Ursi / Banca: Jefferson Luis OshiroTanaka / Banca: Edmundo Medici Filho / Mestre