Fat bloom in chocolates is the gray-white discoloration and dullness that can occur on the surface of the confectionery. Fat bloom is a common quality defect that can result from temperature fluctuations during storage. Chocolates candies with peanuts or other nut fillings are more prone to fat bloom compared to plain chocolates, due to a release of incompatible nut oils into the chocolate matrix. The overall goal of this study was to determine if differences in triacylglycerol (TAG) composition and rheological properties of high, medium, and normal oleic peanuts influence fat bloom formation. All three peanut varieties showed high concentrations of triolein. Normal oleic peanuts had a slightly higher trilinolein than high and medium oleic peanuts, which contained trilinolein in trace amounts. Peanut pastes from the three peanut varieties all had a minimum apparent yield stress, and all pastes showed varying degrees of shear thinning. The apparent yield stress of high and normal oleic pastes was higher than the apparent yield stress of medium oleic paste. The absolute value of the flow index behavior was 1 for the high oleic peanut paste, suggesting friction in the experimental apparatus, even with use of Teflon plates. The peanut chocolate candies took around 45 days for significant dulling of the chocolates with temperature cycling between 26-29 °C approximately every 26 hours. Optical microscopy scans showed differences in glossiness and surface textural attributes of the unbloomed and bloomed peanut chocolate confectionery. Consumer evaluation showed some differences in the glossiness and significant differences in surface texture of unbloomed and bloomed chocolates. A majority (62%) of the survey respondents had seen whitish discoloration in chocolates and 40% of the respondents thought this is because the chocolate had grown old. / Ph. D.

La communauté informatique a créé une quantité de données sans précédent grâce aux applications à grande échelle. Ces données massives sont considérées comme une mine d’or, ces informations n’attendant que la puissance de traitement sûre et appropriée à l’évaluation d’algorithmes d’analyse complexe. MapReduce est un des modèles de programmation les plus réputé, connu pour la gestion de ce type de traitement. Il est devenu un standard pour le traitement, l’analyse et la génération de grandes quantités de données en parallèle. Cependant, le modèle de programmation MapReduce souffre d’importantes limites pour des opérations non simples (scans ou regroupements simples), en particulier les traitements avec entrées multiples. Dans ce mémoire, nous étudions et optimisons l’évaluation, dans un environnement MapReduce, d’une des opérations les plus importantes et représentatives : la jointure. Notre travail aborde, en plus de la jointure binaire, des jointures complexes comme la jointure multidimensionnelle et la jointure récursive. Pour atteindre ces objectifs, nous proposons d’abord un nouveau type de filtre appelé filter d’intersection qui utilise un modèle probabiliste pour représenter une approximation de l’intersection des ensembles. Le filtre d’intersection est ensuite appliqué à l’opération de jointure bidirectionnelle pour éliminer la majorité des éléments non-joints dans des ensembles de données d'entrée, avant d’envoyer les données pour le processus de jointure. De plus, nous proposons une extension du filtre d’intersection pour améliorer l’efficacité de la jointure ternaire et de la jointure en cascade correspondant à un cycle de jointure avec plusieurs clés partagées lors de la jointure. Nous utilisons la méthode des multiplicateurs de Lagrange afin de réaliser un choix pertinent entre les différentes solutions proposées pour les jointures multidimensionnelles. Une autre proposition est le filtre de différence, une structure de données probabiliste formée pour représenter un ensemble et examiner des éléments disjoints. Ce filtre peut être appliqué à un grand nombre de problèmes, tels que la réconciliation, la déduplication, la correction d’erreur et en ce qui nous concerne la jointure récursive. Une jointure récursive utilisant un filtre de différence est effectuée comme une répétition de jointures en lieu et place d’une jointure et d’un processus de différenciation. Cette amélioration réduit de moitié le nombre de tâches effectuées et les associés tels que la lecture des données, la génération des données intermédiaires et les communications. Ceci permet notamment une amélioration de l’évaluation de l’algorithme semi-naïf et par conséquent l’évaluation des requêtes récursives en MapReduce. Ensuite, nous fournissons des modèles de coût généraux pour les jointures binaire, à n-aire et récursive. Grâce à ces modèles, nous pouvons comparer les algorithmes de jointure les plus représentatifs. Ainsi, nous pouvons montrer l’intérêt des filtres proposés, grâce notamment à la réduction des coûts E/S (entrée/ sortie) sur disque et sur réseau. De plus, des expérimentations ont été menées, montrant l’efficacité du filtre d’intersection par rapport aux solutions, en comparant en particulier des critères tels que la quantité de données intermédiaires, la quantité de données produites en sortie, le temps d’exécution et la répartition des tâches. Nos propositions pour les opérations de jointure contribuent à l’optimisation en général de la gestion de données à l’aide du paradigme MapReduce sur des infrastructures distribuées à grande échelle. / The information technology community has created unprecedented amount of data through large-scale applications. As a result, the Big Data is considered as gold mines of information that just wait for the processing power to be available, reliable, and apt at evaluating complex analytic algorithms. MapReduce is one of the most popular programming models designed to support such processing. It has become a standard for processing, analyzing and generating large data in a massively parallel manner. However, the MapReduce programming model suffers from severe limitations of operations beyond simple scan/grouping, particularly operations with multiple inputs. In the present dissertation we efficiently investigate and optimize the evaluation, in a MapReduce environment, of one of the most salient and representative such operations: Join. It focuses not only on two-way joins, but also complex joins such as multi-way joins and recursive joins. To achieve these objectives, we first devise a new type of filter called intersection filter using a probabilistic model to represent an approximation of the set intersection. The intersection filter is then applied to two-way join operations to eliminate most non-joining elements in input datasets before sending data to actual join processing. In addition, we make an extension of the intersection filter to improve the performance of three-way joins and chain joins including both cyclic chain joins with many shared join keys. We use the Lagrangian multiplier method to indicate a good choice between our optimized solutions for the multi-way joins. Another important proposal is a difference filter, which is a probabilistic data structure designed to represent a set and examine disjoint elements of the set. It can be applied to a wide range of popular problems such as reconciliation, deduplication, error-correction, especially a recursive join operation. A recursive join using the difference filter is implemented as an iteration of one join job instead of two jobs including a join job and a difference job. This improvement will significantly reduce the number of executed jobs by half, and the related overheads such as data rescanning, intermediate data, and communication for the deduplication and difference operations. Besides, this research also improves the general semi-naive algorithm, as well as the evaluation of recursive queries in MapReduce. We then provide general cost models for two-way joins, multi-way joins, and recursive joins. Thanks to these cost models, we can make comparisons of the join algorithms more persuasive. As a result, with using the proposed filters, the join operations can minimize disk I/O and communication costs. Moreover, the intersection filter-based join operations are demonstrated to be more efficient than existing solutions through experimental evaluations. Experimental comparisons of different algorithms for joins are examined with respect to intermediate data amount, the total output amount, the total execution time, and especially task timelines. Finally, our improvements on the join operations contribute to the global scene of optimizing data management for MapReduce applications on large-scale distributed infrastructures.

Um problema freqüentemente encontrado por educadores nas mais diversas áreas é conciliar o volume crescente de informação com a manutenção e/ou, não raro, a diminuição das cargas horárias de seus cursos. Esta situação real necessariamente obriga o educador a fazer uma severa seleção dos conteúdos a serem trabalhados. No cenário atual da maior parte das instituições de ensino esta decisão é tomada pelo professor. É possível estabelecer metodologias novas de ensino ao longo do tempo sem abrir mão da qualidade do ensino. Para isso, é necessário em primeiro lugar determinar os conteúdos considerados imprescindíveis para que o ensino seja considerado adequado. Partindo do pressuposto de que as questões das provas aplicadas em uma disciplina revelam os conteúdos que os professores consideram mais importantes, foram analisadas as questões de provas aplicadas em diferentes disciplinas oferecidas pelo Departamento de Bioquímica da USP. O objetivo deste trabalho foi responder a duas questões (1) Qual a extensão e a profundidade dos conteúdos comuns aos cursos básicos de Bioquímica? e (2) Há (e, se houver, quais são?) conteúdos específicos para diferentes habilitações? A estratégia adotada foi verificar os conteúdos exigidos pelas questões e classificar o nível cognitivo exigido utilizando a Taxonomia de Bloom. Os conteúdos mais frequentemente abordados são Estrutura de Proteínas e Regulação do Metabolismo. Os resultados indicam forte predominância de níveis cognitivos baixos (Conhecimento e Compreensão), com pouca representatividade de níveis cognitivos altos (de Aplicação a Avaliação). Espera-se com os resultados deste estudo mapear os conteúdos considerados importantes e a forma como são abordados para subsidiar a discussão sobre o estabelecimento de um currículo mínimo comum às disciplinas de Bioquímica / Educators in the most diverse fields face a common problem of managing the increasing amount of information with the same or even lower level of class hours in their courses. As a consequence, educators have to cover selected topics, which selection is entirely up to the teacher in most education institutions. In order to establish new teaching methodology while maintaining teaching quality, educators need first to select the most essential topics. Assuming that questions from biochemistry program tests reflect the topics considered most relevant by the faculty, questions from different courses offered by the Biochemistry Department of Universidade de São Paulo (USP) were analyzed with the purpose of determining (1) the extent and depth of the common topics of the basics biochemistry programs and (2) the existence of specific recurring topics for different careers. The adopted methodology seeked to identify the most recurring topics in tests questions and to classify the demanded cognitive level according to Blooms Taxonomy. The research identified Protein Structure and Metabolism Regulation as the most recurring topic, and indicates a strong predominance of low cognitive levels (Knowledge and Comprehension), with little presence of high cognitive levels (from Application to Evaluation). This study intended to outline the topics considered relevant by the faculty providing results that are required to focus the academic discussion for creating core curricula for biochemistry courses

Introdução: A síndrome de Bloom (SB) é uma síndrome de instabilidade cromossômica rara, transmitida por herança autossômica recessiva. Caracteriza-se por deficiência de crescimento pré e pós-natal, microcefalia, hipoplasia malar, eritema telangiectásico em face e comprometimento do sistema imunológico. Os pacientes com SB apresentam predisposição aumentada para o desenvolvimento de neoplasias em idade precoce, sendo esta, a principal causa de óbito. No estudo citogenético observa-se aumento de quebras cromossômicas espontâneas e trocas entre cromátides irmãs (TCI), que é utilizada como marcador diagnóstico para a SB. Essas alterações são causadas por um defeito no mecanismo de reparo do DNA, decorrente de uma mutação no gene BLM. Objetivos: Realizar o estudo citogenético de trocas entre cromátides irmãs para o diagnóstico de pacientes com suspeita clínica de SB; caracterizar os aspectos clínicos e avaliar a evolução de pacientes com SB. Métodos: Foram estudados nove pacientes (4 M e 5 F) pertencentes a oito famílias com suspeita clínica de SB utilizando preparações cromossômicas tratadas com 5- bromo-2-desoxiuridina (BrdU) e coloração Hoechst - Giemsa para visualização diferencial das cromátides irmãs e análise de freqüência de TCI. Resultados e Discussão: Todos os pacientes foram positivos para a pesquisa de TCI cuja freqüência variou de 45,2 a 61,3 TCI/metáfase. A idade dos pacientes ao diagnóstico variou de 1a1m até 11a (média de 4a6m). O principal motivo do encaminhamento foi o déficit de crescimento e apenas um paciente foi encaminhado por apresentar lesões cutâneas. Todos apresentaram deficiência de crescimento pré e pós-natal, microcefalia e hipoplasia malar. O eritema esteve presente em 8/9 pacientes. Manchas café-au-lait e/ou manchas hipocrômicas foram observadas em sete pacientes. Um paciente apresentou agenesia unilateral da fíbula, encurtamento da tíbia e agenesia do 5° artelho, associado à hipoplasia renal. As infecções de repetição foram relatadas em 8/9 pacientes, sendo principalmente pneumonia e diarreia. Deficiência de imunoglobulinas foi observada em 6/9 pacientes, principalmente: deficiência de IgG (3/6), de IgA (2/6) e de IgM (1/6). A consanguinidade entre os pais foi encontrada em 4/8 famílias, apenas uma família apresentou dois filhos afetados. Duas pacientes (2/9) evoluíram com tumor de Wilms (TW), uma aos 3a6m e a outra aos 3a11m. Houve recidiva em uma paciente que faleceu aos cinco anos. A outra paciente evoluiu bem e atualmente está com 20 anos. Conclusão: O diagnóstico da SB deve ser feito precocemente baseado na avaliação clínica. A pesquisa citogenética de TCI, que é de baixo custo e fácil aplicação, é fundamental para a confirmação diagnóstica. A freqüência aumentada para o desenvolvimento de neoplasias em idade precoce, alerta para um rastreamento das neoplasias mais comuns como linfoma, leucemia e tumor de Wilms. / Introduction: Bloom syndrome (BS) is a rare chromosomal instability syndrome, transmitted by autosomal recessive inheritance. It´s characterized by pre and postnatal growth deficiency, microcephaly, malar hypoplasia, telangiectatic erythema on the face and impaired immune system. BS patients present an increased predisposition to develop cancer at early age, which is the main cause of death. In the cytogenetic exam is observed an increase of spontaneous breaks and sister chromatid exchange (SCE) that is used as a diagnostic biomarker for the BS. These changes are caused by a defect in DNA repair mechanism, due to mutations in the BLM gene. Objectives: Perform the cytogenetic study of sister chromatid exchange for the clinical diagnosis of BS patients; to characterize the clinical aspects and assess the follow-up of patients. Methods: Nine patients (4 M, 5 F) from eight families with clinical diagnoses of BS were studied using standard chromosome preparations treated with 5-bromo-2-deoxyuridine (BrdU) and Hoechst-Giemsa differential staining for visualization and analysis of frequency of SCE. Results and Discussion: All patients were positive for the presence of SCE with the frequency ranged from 45.2 to 61.3 SCE/metaphase. The age at diagnosis ranged from 1y1mo to 11y (mean 4y6mo). The main reason for referral was growth deficit except one due to skin lesions. All patients presented pre and post-natal growth deficiency, microcephaly and malar hypoplasia. The erythema was present in 8/9 patients. Cafe-au-lait spots and/or hypochromic spots were observed in seven patients. One patient had unilateral agenesis of the fibula, shortening tibia and agenesis of the 5th toe associated with renal hypoplasia. The recurrent infections were reported in 8/9 patients, mainly pneumonia and diarrhea. Immunoglobulin deficiency was observed in 6/9 patients such as IgG (3/6), IgA (2/6) and IgM (1/6). The parental consanguinity was found in 4/8 families, one family had two affected. Two patients (2/9) developed Wilms tumor (WT), one at 3y6mo and another at 3y11mo. There was recurrence in one patient who died at five years. The other patient is well at 20 years old. Conclusion: The diagnosis of BS should be done early based in clinical findings. The cytogenetic for SCE exam is essential for diagnostic confirmation, which is low cost and easy application. The screening for the most common malignancies such as lymphoma, leukemia and WT must be done due to increased predisposition for cancer development at an early age

Submitted by Kenia Bernini (kenia.bernini@ufpel.edu.br) on 2018-02-28T19:06:29Z No. of bitstreams: 3 license_rdf: 0 bytes, checksum: d41d8cd98f00b204e9800998ecf8427e (MD5) Daniel_Keglis_Sousa_Dissertação.pdf: 3577045 bytes, checksum: 0a33593f1182c6586973ca182ca8901f (MD5) Daniel_Keglis_Sousa_Produto.pdf: 1880857 bytes, checksum: 083eb07650248bd7674fdd15b91747f5 (MD5) / Approved for entry into archive by Aline Batista (alinehb.ufpel@gmail.com) on 2018-03-05T21:09:38Z (GMT) No. of bitstreams: 3 Daniel_Keglis_Sousa_Dissertação.pdf: 3577045 bytes, checksum: 0a33593f1182c6586973ca182ca8901f (MD5) Daniel_Keglis_Sousa_Produto.pdf: 1880857 bytes, checksum: 083eb07650248bd7674fdd15b91747f5 (MD5) license_rdf: 0 bytes, checksum: d41d8cd98f00b204e9800998ecf8427e (MD5) / Approved for entry into archive by Aline Batista (alinehb.ufpel@gmail.com) on 2018-03-05T21:09:47Z (GMT) No. of bitstreams: 3 Daniel_Keglis_Sousa_Dissertação.pdf: 3577045 bytes, checksum: 0a33593f1182c6586973ca182ca8901f (MD5) Daniel_Keglis_Sousa_Produto.pdf: 1880857 bytes, checksum: 083eb07650248bd7674fdd15b91747f5 (MD5) license_rdf: 0 bytes, checksum: d41d8cd98f00b204e9800998ecf8427e (MD5) / Made available in DSpace on 2018-03-05T21:09:58Z (GMT). No. of bitstreams: 3 Daniel_Keglis_Sousa_Dissertação.pdf: 3577045 bytes, checksum: 0a33593f1182c6586973ca182ca8901f (MD5) Daniel_Keglis_Sousa_Produto.pdf: 1880857 bytes, checksum: 083eb07650248bd7674fdd15b91747f5 (MD5) license_rdf: 0 bytes, checksum: d41d8cd98f00b204e9800998ecf8427e (MD5) Previous issue date: 2017-08-15 / Sem bolsa / O presente estudo teve como objetivo investigar condições que influenciam na utilização e na integração das Tecnologias Digitais de Informação e Comunicação (TDIC) em ações pedagógicas de professores da rede pública municipal de Pelotas, a partir de uma capacitação proposta pelo Grupo PROMIDIAS/UFPel em conjunto com a Secretaria de Educação deste município. Através da pesquisa, dividida em duas etapas, buscou-se (i) investigar condições individuais, coletivas, institucionais e paradigmáticas que influenciam na utilização e na integração das TDIC em ações pedagógicas destes professores; (ii) investigar, no grupo de professores que concluiu a capacitação, condições, razões, crenças, posturas e/ou conhecimentos que favoreceram atingir a conclusão desta formação, assim como compreender possíveis motivos para o alto índice de evasão dos professores que não concluíram a formação; (iii) apresentar uma análise sobre indicadores de níveis de integração das TDIC em relação a prática docente de alguns professores que concluíram a formação, num período pós-capacitação. Na primeira etapa, para (i), utilizou-se de uma análise de questionários respondidos por professores, a partir de uma abordagem qualitativa e quantitativa. Na segunda etapa, para (ii) e (iii), foi proposto um Estudo de Casos Múltiplos, utilizando um questionário e uma entrevista individual semi estruturada, como instrumentos de coleta e de análise para os dados obtidos. Em relação ao referencial teórico, este estudo fundamentou-se em pressupostos teóricos de Sibilia (2012), Fantin e Rivoltella (2013), Almeida e Valente (2011), Moraes (2002), Costa (2004, 2013), Churches (2009), Puentedura (2014), dentre outros. Privilegiaram-se reflexões sobre possibilidades de integração das TDIC ao currículo da escola, bem como sobre condições que influenciam na utilização e na integração das TDIC nos processos de ensino. São propostas discussões sobre como explorar pedagogicamente as potencialidades que as TDIC possibilitam, de modo que não sejam apenas ferramentas tecnológicas para substituir velhas práticas. Destaca-se a importância e a necessidade da Formação Continuada de Professores, fundamentada no uso pedagógico das mídias digitais, nos ambientes de ensino. Utilizou-se a Taxonomia de Bloom revisada, como instrumento de avaliação da capacitação PROMIDIAS. Como resultados foi possível identificar condições que influenciam na utilização e na integração das TDIC nos processos de ensino e, ainda, analisar indicadores para avaliar estágios de integração das TDIC em ações pedagógicas de professores, num período pós-capacitação. Através deste estudo foi possível concluir que explorar a potencialidade pedagógica das TDIC possibilita modificar, transformar os ambientes de ensino e de aprendizagem, abrindo efetivamente um espaço para um novo momento na Educação. Novos paradigmas educacionais, e novas propostas metodológicas surgem quando se integra as tecnologias digitais de forma efetiva, utilizando suas potencialidades / The present study aimed to investigate conditions that influence the use and integration of Digital Information and Communication Technologies (TDIC) in pedagogical actions of teachers of the municipal public network of Pelotas, based on a training proposed by the PROMIDIAS / UFPel Group together with the Education Department of this municipality. Through the research, divided into two stages, we sought to (i) investigate individual, collective, institutional and paradigmatic conditions that influence the use and integration of TDIC in pedagogical actions of these teachers; (ii) to investigate, in the group of teachers who completed the training, conditions, reasons, beliefs, postures and / or knowledge that favored the completion of this training, as well as to understand possible reasons for the high dropout rate of teachers who did not complete formation; (iii) to present an analysis of indicators of levels of integration of the TDIC in relation to the teaching practice of some teachers who completed the training in a post-qualification period. In the first step, for (i), an analysis of questionnaires answered by teachers was used, based on a qualitative and quantitative approach. In the second stage, for (ii) and (iii), a Multiple Case Study was proposed, using a questionnaire and a semi-structured individual interview, as collection and analysis instruments for the data obtained. In relation to the theoretical reference, this study was based on theoretical assumptions of Sibilia (2012), Fantin and Rivoltella (2013), Almeida and Valente (2011), Moraes (2002), Costa (2004, 2013), Churches, Puentedura (2014), among others. Reflections were made on the possibility of integrating TDICs into the school curriculum, as well as on conditions that influence the use and integration of TDICs in teaching processes. Discussions are proposed on how to explore pedagogically the potentialities that TDICs make possible, so that they are not just technological tools to replace old practices. The importance and necessity of Continued Teacher Training, based on the pedagogical use of digital media, in teaching environments is highlighted. The revised Bloom Taxonomy was used as an evaluation tool for the PROMIDIAS training. As results, it was possible to identify conditions that influence the use and integration of the TDIC in the teaching processes and also to analyze indicators to evaluate stages of integration of the TDIC in pedagogical actions of teachers, in a post-qualification period. Through this study it was possible to conclude that exploiting the pedagogy of TDIC allows to modify, transform teaching and learning environments, effectively opening a space for a new moment in Education. New educational paradigms, and new methodological proposals arise when integrating digital technologies effectively, using their potentialities

Introdução: A síndrome de Bloom (SB) é uma síndrome de instabilidade cromossômica rara, transmitida por herança autossômica recessiva. Caracteriza-se por deficiência de crescimento pré e pós-natal, microcefalia, hipoplasia malar, eritema telangiectásico em face e comprometimento do sistema imunológico. Os pacientes com SB apresentam predisposição aumentada para o desenvolvimento de neoplasias em idade precoce, sendo esta, a principal causa de óbito. No estudo citogenético observa-se aumento de quebras cromossômicas espontâneas e trocas entre cromátides irmãs (TCI), que é utilizada como marcador diagnóstico para a SB. Essas alterações são causadas por um defeito no mecanismo de reparo do DNA, decorrente de uma mutação no gene BLM. Objetivos: Realizar o estudo citogenético de trocas entre cromátides irmãs para o diagnóstico de pacientes com suspeita clínica de SB; caracterizar os aspectos clínicos e avaliar a evolução de pacientes com SB. Métodos: Foram estudados nove pacientes (4 M e 5 F) pertencentes a oito famílias com suspeita clínica de SB utilizando preparações cromossômicas tratadas com 5- bromo-2-desoxiuridina (BrdU) e coloração Hoechst - Giemsa para visualização diferencial das cromátides irmãs e análise de freqüência de TCI. Resultados e Discussão: Todos os pacientes foram positivos para a pesquisa de TCI cuja freqüência variou de 45,2 a 61,3 TCI/metáfase. A idade dos pacientes ao diagnóstico variou de 1a1m até 11a (média de 4a6m). O principal motivo do encaminhamento foi o déficit de crescimento e apenas um paciente foi encaminhado por apresentar lesões cutâneas. Todos apresentaram deficiência de crescimento pré e pós-natal, microcefalia e hipoplasia malar. O eritema esteve presente em 8/9 pacientes. Manchas café-au-lait e/ou manchas hipocrômicas foram observadas em sete pacientes. Um paciente apresentou agenesia unilateral da fíbula, encurtamento da tíbia e agenesia do 5° artelho, associado à hipoplasia renal. As infecções de repetição foram relatadas em 8/9 pacientes, sendo principalmente pneumonia e diarreia. Deficiência de imunoglobulinas foi observada em 6/9 pacientes, principalmente: deficiência de IgG (3/6), de IgA (2/6) e de IgM (1/6). A consanguinidade entre os pais foi encontrada em 4/8 famílias, apenas uma família apresentou dois filhos afetados. Duas pacientes (2/9) evoluíram com tumor de Wilms (TW), uma aos 3a6m e a outra aos 3a11m. Houve recidiva em uma paciente que faleceu aos cinco anos. A outra paciente evoluiu bem e atualmente está com 20 anos. Conclusão: O diagnóstico da SB deve ser feito precocemente baseado na avaliação clínica. A pesquisa citogenética de TCI, que é de baixo custo e fácil aplicação, é fundamental para a confirmação diagnóstica. A freqüência aumentada para o desenvolvimento de neoplasias em idade precoce, alerta para um rastreamento das neoplasias mais comuns como linfoma, leucemia e tumor de Wilms. / Introduction: Bloom syndrome (BS) is a rare chromosomal instability syndrome, transmitted by autosomal recessive inheritance. It´s characterized by pre and postnatal growth deficiency, microcephaly, malar hypoplasia, telangiectatic erythema on the face and impaired immune system. BS patients present an increased predisposition to develop cancer at early age, which is the main cause of death. In the cytogenetic exam is observed an increase of spontaneous breaks and sister chromatid exchange (SCE) that is used as a diagnostic biomarker for the BS. These changes are caused by a defect in DNA repair mechanism, due to mutations in the BLM gene. Objectives: Perform the cytogenetic study of sister chromatid exchange for the clinical diagnosis of BS patients; to characterize the clinical aspects and assess the follow-up of patients. Methods: Nine patients (4 M, 5 F) from eight families with clinical diagnoses of BS were studied using standard chromosome preparations treated with 5-bromo-2-deoxyuridine (BrdU) and Hoechst-Giemsa differential staining for visualization and analysis of frequency of SCE. Results and Discussion: All patients were positive for the presence of SCE with the frequency ranged from 45.2 to 61.3 SCE/metaphase. The age at diagnosis ranged from 1y1mo to 11y (mean 4y6mo). The main reason for referral was growth deficit except one due to skin lesions. All patients presented pre and post-natal growth deficiency, microcephaly and malar hypoplasia. The erythema was present in 8/9 patients. Cafe-au-lait spots and/or hypochromic spots were observed in seven patients. One patient had unilateral agenesis of the fibula, shortening tibia and agenesis of the 5th toe associated with renal hypoplasia. The recurrent infections were reported in 8/9 patients, mainly pneumonia and diarrhea. Immunoglobulin deficiency was observed in 6/9 patients such as IgG (3/6), IgA (2/6) and IgM (1/6). The parental consanguinity was found in 4/8 families, one family had two affected. Two patients (2/9) developed Wilms tumor (WT), one at 3y6mo and another at 3y11mo. There was recurrence in one patient who died at five years. The other patient is well at 20 years old. Conclusion: The diagnosis of BS should be done early based in clinical findings. The cytogenetic for SCE exam is essential for diagnostic confirmation, which is low cost and easy application. The screening for the most common malignancies such as lymphoma, leukemia and WT must be done due to increased predisposition for cancer development at an early age

Šiame magistro darbe mes analizuojame nuotolinių studijų kurso bendrai ir mokymo medžiagos atskiromis kurso dalimis pertvarkymą. Reinžinerijos koncepcinis modelis yra įvairiai interpretuojamas ir yra taikomas programinės įrangos rengimo, ar vadybos moksluose. Tai yra daroma, kad sistemas būtų galima geriau panaudoti. Jos analizuojamos ir pertvarkomos tolimesniam naudojimui. Mes sujungiame minėtų sričių reižinerijos koncepto reikšmes ir naudojame tai kaip metodinį pagrindą nuotolinių studijų srityje. Mes analizuojame nuotolinių studijų kurso struktūrą. Tada pristatome kursus paruoštus ir naudojamus užsienio universitetuose, susijusius su ‘Programavimu grafinėje terpėje‘, trigubo pastovumo principu, Bloom taksonomija ir jos pritaikymu kompiuterijos mokslų studijavimui, informatikos mokymo programa 2001 (angl. computing curriculla 2001). Toliau, mes siūlome konceptualią nuotolinių studijų pertvarkos struktūrą iš dėstytojo perspektyvų ir pristatome atvejų analizę, kurioje pora temų yra pertvarkytos, atsižvelgiant į trigubo pastovumo principą ir reikalavimus kompiuterių mokslų studentams. / In this master thesis we analyse a problem of reengineering of a distance study system, in general, and the learning material of a separate course, in particular. Reengineering concept with its different interpretations is used in software engineering and management sciences. It deals with making systems better maintainable, examination and reconstitution of the system for further reimplementation. We combine the meaning of reengineering concept in both mentioned areas and employ it as methodological background in distance study area. We analyse the structure of the distance study course. Then we introduce the courses, prepared and delivered in foreign universities and related to ‘Programming in GUI’ course, triple consistency principle, Bloom taxonomy and its applicability to computer science studies, Computing Curricula 2001. Further, we propose a conceptual distance study course reengineering framework from the lecturer’s perspective and present a case study, in which two topics were reengineered, considering triple consistency principle and requirements for computer science students.

Η ραγδαία εξέλιξη των τεχνολογιών της πληροφορίας και της επικοινωνίας δεν έχει αφήσει ανεπηρέαστο τον χώρο της αγοράς εργασίας. Συνεχώς κρίνεται αναγκαία η εμφάνιση νέων, ακόμη πιο εξειδικευμένων επαγγελμάτων που συνδέονται με τον χώρο της πληροφορικής. Σκοπός της παρούσας διπλωματικής εργασίας είναι η κατασκευή οντολογίας που περιέχει τις εξής έννοιες: επαγγελματικά προφίλ (job profiles) που σχετίζονται με την πληροφορική, ικανότητες (competences) που συσχετίζονται με τα job profiles, επίπεδα (Proficiency Levels) που προκύπτουν από το Ευρωπαϊκό Πλαίσιο Επαγγελματικών Προσόντων / European Qualification Framework (EQF) και το Ευρωπαϊκό Πλαίσιο ηλεκτρονικών Ικανοτήτων / e-Competence Framework (e-CF) και χαρακτηρίζουν τις ικανότητες αυτές και μαθησιακά αποτελέσματα (Learning Outcomes) που προκύπτουν από τις ικανότητες αυτές. Τα μαθησιακά αποτελέσματα χαρακτηρίζονται μέσα από την οντολογία με βάση την Ταξινομία Bloom ενώ, επιπλέον, γίνεται μια σύνδεση των επιπέδων του πλαισίου EQF και των μαθησιακών αποτελεσμάτων με έννοιες, που συναντάμε στην Σύσταση του Ευρωπαϊκού Κοινοβουλίου και του Συμβουλίου για την θέσπιση του Ευρωπαϊκού Συστήματος Πιστωτικών Μονάδων για την Επαγγελματική Εκπαίδευση και Κατάρτιση (ECVET), όπως προσόντα (qualification) και ψηφίδες (units). Η λειτουργία του συστήματος επαληθεύεται με την υποβολή ερωτημάτων και την αξιολόγηση των αποτελεσμάτων. Η δυναμική της οντολογίας που κατασκευάστηκε θα μπορούσε να αξιοποιηθεί τόσο από εταιρείες για την βελτίωση διαχείρισης ανθρώπινου δυναμικού αλλά και από εκπαιδευτικά ιδρύματα για την εξέλιξη ενός προγράμματος σπουδών. / The lack of a commonly accepted representation of competences and qualifications has led to a mismatch between the outcome of education / training courses and true market needs. Frameworks like EQF and e-CF attempt to deal with the problem by providing an abstract, all-encompassing structure that classifies qualifications into levels of formal education. Being so abstract, these frameworks have to be adapted in order to become useful. Moreover, in order to feed the market needs regarding qualifications to the educational system, a further mapping level is required, that which maps qualifications to learning outcomes. Although several attempts have been made, we have not come across a tool that could automate part of the process. For this reason, in the context of EU project PIN, we have developed a semantically rich mechanism that represents job profiles, qualifications and learning outcomes and maps them to EQF and e-CF levels. In this paper, we present the ontologies that constitute the core of this mechanism. We have developed ontologies that represent the EQF and e-CF frameworks, competences, qualifications and job profiles, and learning outcomes based on the Bloom’s taxonomy. Then we combined these ontologies and filled them with actual job profiles (that were developed in the PIN project) in order to evaluate them. In the paper, we describe the ontology engineering methodology, the ontology properties and the ways they can be used to provide a commonly accessible knowledge layer for semantic Web applications that would need to match qualifications and learning outcomes.

Um problema freqüentemente encontrado por educadores nas mais diversas áreas é conciliar o volume crescente de informação com a manutenção e/ou, não raro, a diminuição das cargas horárias de seus cursos. Esta situação real necessariamente obriga o educador a fazer uma severa seleção dos conteúdos a serem trabalhados. No cenário atual da maior parte das instituições de ensino esta decisão é tomada pelo professor. É possível estabelecer metodologias novas de ensino ao longo do tempo sem abrir mão da qualidade do ensino. Para isso, é necessário em primeiro lugar determinar os conteúdos considerados imprescindíveis para que o ensino seja considerado adequado. Partindo do pressuposto de que as questões das provas aplicadas em uma disciplina revelam os conteúdos que os professores consideram mais importantes, foram analisadas as questões de provas aplicadas em diferentes disciplinas oferecidas pelo Departamento de Bioquímica da USP. O objetivo deste trabalho foi responder a duas questões (1) Qual a extensão e a profundidade dos conteúdos comuns aos cursos básicos de Bioquímica? e (2) Há (e, se houver, quais são?) conteúdos específicos para diferentes habilitações? A estratégia adotada foi verificar os conteúdos exigidos pelas questões e classificar o nível cognitivo exigido utilizando a Taxonomia de Bloom. Os conteúdos mais frequentemente abordados são Estrutura de Proteínas e Regulação do Metabolismo. Os resultados indicam forte predominância de níveis cognitivos baixos (Conhecimento e Compreensão), com pouca representatividade de níveis cognitivos altos (de Aplicação a Avaliação). Espera-se com os resultados deste estudo mapear os conteúdos considerados importantes e a forma como são abordados para subsidiar a discussão sobre o estabelecimento de um currículo mínimo comum às disciplinas de Bioquímica / Educators in the most diverse fields face a common problem of managing the increasing amount of information with the same or even lower level of class hours in their courses. As a consequence, educators have to cover selected topics, which selection is entirely up to the teacher in most education institutions. In order to establish new teaching methodology while maintaining teaching quality, educators need first to select the most essential topics. Assuming that questions from biochemistry program tests reflect the topics considered most relevant by the faculty, questions from different courses offered by the Biochemistry Department of Universidade de São Paulo (USP) were analyzed with the purpose of determining (1) the extent and depth of the common topics of the basics biochemistry programs and (2) the existence of specific recurring topics for different careers. The adopted methodology seeked to identify the most recurring topics in tests questions and to classify the demanded cognitive level according to Blooms Taxonomy. The research identified Protein Structure and Metabolism Regulation as the most recurring topic, and indicates a strong predominance of low cognitive levels (Knowledge and Comprehension), with little presence of high cognitive levels (from Application to Evaluation). This study intended to outline the topics considered relevant by the faculty providing results that are required to focus the academic discussion for creating core curricula for biochemistry courses

La stabilité du génome est compromise par les déséquilibres du pool de dNTPs qui affectent la vitesse de progression des fourches de réplication. Par exemple, la déficience en cytidine désaminase (CDA) conduit à un excès de dCTP qui induit un ralentissement des fourches de réplication. Les résultats obtenus au cours de ma thèse ont permis de mettre en évidence un nouveau mécanisme par lequel un déséquilibre du pool de nucléotides compromet la complétion de la réplication et la ségrégation correcte des chromosomes. En utilisant des techniques de peignage moléculaire, de microscopie électronique et d’imagerie cellulaire permettant de quantifier le niveau basal de PAR, nous avons montré que la réplication incomplète de l’ADN lorsque la CDA est absente est due à l’inhibition partielle de PARP-1, et n’est pas liée au ralentissement de la vitesse de progression des fourches de réplication. En effet, l’accumulation intracellulaire de dCTP inhibe l’activité de PARP-1 ce qui réduit l’activation de Chk1 et l’efficacité des points de contrôle situés en aval, favorisant ainsi l’accumulation de séquences d’ADN non répliquées en mitose. Celles-ci conduisent alors à la formation de ponts anaphasiques ultrafins (UFBs) entre les chromatides sœurs au niveau de sites difficiles à répliquer tels que les centromères et les sites fragiles. Ces résultats ont des implications directes dans le syndrome de Bloom (BS), une maladie génétique rare combinant prédisposition aux cancers et instabilité génétique. Ce syndrome est la conséquence de la mutation du gène BLM, codant pour une hélicase RecQ du même nom. La déficience en BLM conduit à une chute de l’expression de la CDA résultant en une augmentation des UFBs entièrement due à l’inhibition de PARP-1 par la dCTP, indépendamment de BLM. Ces travaux décrivent ainsi une conséquence pathologique encore inconnue du déséquilibre du pool de nucléotides et révèlent un rôle inattendu de PARP-1 dans la surveillance des séquences d’ADN non répliquées prévenant leur accumulation en mitose et les défauts de ségrégation des chromosomes associés. / Genome stability is jeopardized by imbalances of the dNTP pool; such imbalances affect the rate of fork progression. For example, cytidine deaminase (CDA) deficiency leads to an excess of dCTP, slowing the replication fork. We describe here a novel mechanism by which pyrimidine pool disequilibrium compromises the completion of replication and chromosome segregation. Using molecular combing, electron microscopy and a sensitive assay involving cell imaging to quantify steady-state PAR levels, we found that in CDA-deficient cells DNA replication was unsuccessful due to the partial inhibition of basal PARP-1 activity, rather than slower fork speed. Indeed, the intracellular accumulation of dCTP inhibits PARP-1 activity compromising the activation of Chk1 and the downstream checkpoints efficiency, allowing the subsequent accumulation of unreplicated DNA in mitosis. This unreplicated DNA leads to the formation of ultrafine anaphase bridges (UFBs) between sister-chromatids at “difficult-to-replicate” sites such as centromeres and fragile sites. These results have direct implications for Bloom syndrome (BS), a rare genetic disease combining susceptibility to cancer and genomic instability. BS results from mutation of the BLM gene, encoding BLM, a RecQ 3’-5’ DNA helicase, a deficiency of which leads to CDA downregulation. BS cells thus have a CDA defect, resulting in a high frequency of UFBs due entirely to dCTP-dependent PARP-1 inhibition and independent of BLM status. Our results describe previously unknown pathological consequences of the distortion of dNTP pools and reveal an unexpected role for PARP-1 in preventing unreplicated DNA accumulation in mitosis and in preventing chromosome segregation defects.