Pseudomonas syringae pv. tabaci in papaya seedlings

The natural occurrence of Pseudomonas syringae pv. tabaci causing leaf spot symptoms in papaya seedlings is reported. The pathogen was identified through biochemical, physiological, serological, and molecular assays and artificial inoculations in papaya plants. It was also shown that the strains were pathogenic to bean and tobacco plants. The restriction patterns obtained with Afa I, Alu I, Dde I, Hae III, Hpa II, Hinf I, Sau 3A I and Taq I of the PCR-RFLP of 16S-23S DNAr were identical to the P. s. pv. tabaci patterns. Primers corresponding to hrpL gene of P. syringae were also tested and the results grouped the papaya strains with P s. pv. tabaci. Bacterial strains were deposited at Coleção de Culturas IBSBF, Instituto Biológico, Campinas, Brazil, under access numbers 1687 and 1822.

Polimorfismo do gene do receptor de progesterona (PROGINS) em mulheres com endometriose pélvica

OBJETIVO: o objetivo do estudo foi verificar a prevalência do polimorfismo denominado PROGINS no gene do receptor de progesterona entre mulheres com endometriose em seus diferentes estádios. MÉTODOS: estudo caso-controle desenvolvido entre novembro de 2003 e maio de 2004. Foram analisados os genótipos de 104 mulheres, das quais 66 com endometriose comprovada por videolaparoscopia (26 mulheres nos estádios I-II e 40 nos estádios III-IV) e 38 saudáveis. A inserção Alu de 306 pares de base no intron G do gene do receptor de progesterona denominada PROGINS foi detectada por meio de reação em cadeia da polimerase e analisada em gel de agarose 2% corado com brometo de etídio. Para análise estatística foi utilizado o teste ANOVA paramétrico. RESULTADOS: as amostras pertencentes aos grupos endometriose estádios I-II (grupo EndoI) e estádios III-IV (grupo EndoII) tiveram significativo aumento na incidência do alelo polimórfico do receptor de progesterona em relação ao grupo controle: 27% no grupo EndoI, 38% no EndoII e apenas 18% no grupo controle (p < 0,001). A prevalência da inserção, quando comparamos mulheres com endometriose, independente do estádio, com as do grupo controle, foi estatisticamente superior no grupo das doentes (p = 0,0385). CONCLUSÃO: há associação estatisticamente significante entre o polimorfismo PROGINS e a endometriose pélvica.

Polimorfismo do gene do receptor de progesterona (PROGINS) em mulheres com câncer de mama: estudo caso-controle

OBJETIVOS: analisar a correlação entre o polimorfismo PROGINS e o câncer de mama. MÉTODOS: estudo caso-controle desenvolvido entre abril e outubro de 2004 com o pareamento de 50 mulheres com diagnóstico histopatológico de carcinoma de mama e 49 mulheres saudáveis. A inserção Alu de 306 pares de base no intron G do gene do receptor da progesterona denominada PROGINS foi detectada por meio de reação em cadeia da polimerase e analisada em gel de agarose 2% corado com brometo de etídio. Os grupos controle e experimental foram comparados, por meio de programa estatístico Epi-Info 6.0, quanto aos genótipos e às freqüências alélicas, utilizando-se o teste do chi2. RESULTADOS: em relação ao PROGINS encontramos uma prevalência na população estudada de 62 (62,6%) indivíduos homozigotos selvagens, 35 (35,3%) de heterozigotos e dois (2,1%) casos com a presença da mutação. Não foi evidenciada diferença significante em relação ao polimorfismo PROGINS, quando comparados os casos e controles, seja com relação à homozigose (62 vs 65,3%), heterozigose (36 vs 34,6%) ou à presença de mutação (2,0 vs 2,1%), com p de 0,920 (OR=1,01), 0,891 (OR=1,06) e 0,988 (OR=1,10), respectivamente. CONCLUSÕES: os resultados mostraram que o polimorfismo PROGINS não conferiu risco substancial de câncer de mama em seus portadores.

The Lebanese mutation as an important cause of familial hypercholesterolemia in Brazil

Familial hypercholesterolemia (FH) is a common autosomal disorder that affects about one in 500 individuals in most Western populations and is caused by a defect in the low-density-lipoprotein receptor (LDLr) gene. In this report we determined the molecular basis of FH in 59 patients from 31 unrelated Brazilian families. All patients were screened for the Lebanese mutation, gross abnormalities of the LDLr gene, and the point mutation in the codon 3500 of the apolipoprotein B-100 gene. None of the 59 patients presented the apoB-3500 mutation, suggesting that familial defective ApoB-100 (FDB) is not a major cause of inherited hypercholesterolemia in Brazil. A novel 4-kb deletion in the LDLr gene, spanning from intron 12 to intron 14, was characterized in one family. Both 5' and 3' breakpoint regions were located within Alu repetitive sequences, which are probably involved in the crossing over that generated this rearrangement. The Lebanese mutation was detected in 9 of the 31 families, always associated with Arab ancestry. Two different LDLr gene haplotypes were demonstrated in association with the Lebanese mutation. Our results suggest the importance of the Lebanese mutation as a cause of FH in Brazil and by analogy the same feature may be expected in other countries with a large Arab population, such as North American and Western European countries.

The identification and characterization of inter- and intra-species genetic diversity derived from retrotransposons in humans

Retrotransposons, which used to be considered as “junk DNA”, have begun to reveal their immense value to genome evolution and human biology due to recent studies. They consist of at least ~45% of the human genome and are more or less the same in other mammalian genomes. Retrotransposon elements (REs) are known to affect the human genome through many different mechanisms, such as generating insertion mutations, genomic instability, and alteration in gene expression. Previous studies have suggested several RE subfamilies, such as Alu, L1, SVA and LTR, are currently active in the human genome, and they are an important source of genetic diversity between human and other primates, as well as among humans. Although several groups had used Retrotransposon Insertion Polymorphisms (RIPs) as markers in studying primate evolutionary history, no study specifically focused on identifying Human-Specific Retrotransposon Element (HS-RE) and their roles in human genome evolution. In this study, by computationally comparing the human genome to 4 primate genomes, we identified a total of 18,860 HS-REs, among which are 11,664 Alus, 4,887 L1s, 1,526 SVAs and 783 LTRs (222 full length entries), representing the largest and most comprehensive list of HS-REs generated to date. Together, these HS-REs contributed a total of 14.2Mb sequence increase from the inserted REs and Target Site Duplications (TSDs), 71.6Kb increase from transductions, and 268.2 Kb sequence deletion of from insertion-mediated deletion, leading to a net increase of ~14 Mb sequences to the human genome. Furthermore, we observed for the first time that Y chromosome might be a hot target for new retrotransposon insertions in general and particularly for LTRs. The data also allowed for the first time the survey of frequency of TE insertions inside other TEs in comparison with TE insertion into none-TE regions. In summary, our data suggest that retrotransposon elements have played a significant role in the evolution of Homo sapiens.

HUMAN GENOME VARIATIONS AND EVOLUTION WITH A FOCUS ON THE ANALYSIS OF TRANSPOSABLE ELEMENTS

Genome sequence varies in numerous ways among individuals although the gross architecture is fixed for all humans. Retrotransposons create one of the most abundant structural variants in the human genome and are divided in many families, with certain members in some families, e.g., L1, Alu, SVA, and HERV-K, remaining active for transposition. Along with other types of genomic variants, retrotransponson-derived variants contribute to the whole spectrum of genome variants in humans. With the advancement of sequencing techniques, many human genomes are being sequenced at the individual level, fueling the comparative research on these variants among individuals. In this thesis, the evolution and functional impact of structural variations is examined primarily focusing on retrotransposons in the context of human evolution. The thesis comprises of three different studies on the topics that are presented in three data chapters. First, the recent evolution of all human specific AluYb members, representing the second most active subfamily of Alus, was tracked to identify their source/master copy using a novel approach. All human-specific AluYb elements from the reference genome were extracted, aligned with one another to construct clusters of similar copies and each cluster was analyzed to generate the evolutionary relationship between the members of the cluster. The approach resulted in identification of one major driver copy of all human specific Yb8 and the source copy of the Yb9 lineage. Three new subfamilies within the AluYb family – Yb8a1, Yb10 and Yb11 were also identified, with Yb11 being the youngest and most polymorphic. Second, an attempt to construct a relation between transposable elements (TEs) and tandem repeats (TRs) was made at a genome-wide scale for the first time. Upon sequence comparison, positional cross-checking and other relevant analyses, it was observed that over 20% of all TRs are derived from TEs. This result established the first connection between these two types of repetitive elements, and extends our appreciation for the impact of TEs on genomes. Furthermore, only 6% of these TE-derived TRs follow the already postulated initiation and expansion mechanisms, suggesting that the others are likely to follow a yet-unidentified mechanism. Third, by taking a combination of multiple computational approaches involving all types of genetic variations published so far including transposable elements, the first whole genome sequence of the most recent common ancestor of all modern human populations that diverged into different populations around 125,000-100,000 years ago was constructed. The study shows that the current reference genome sequence is 8.89 million base pairs larger than our common ancestor’s genome, contributed by a whole spectrum of genetic mechanisms. The use of this ancestral reference genome to facilitate the analysis of personal genomes was demonstrated using an example genome and more insightful recent evolutionary analyses involving the Neanderthal genome. The three data chapters presented in this thesis conclude that the tandem repeats and transposable elements are not two entirely distinctly isolated elements as over 20% TRs are actually derived from TEs. Certain subfamilies of TEs themselves are still evolving with the generation of newer subfamilies. The evolutionary analyses of all TEs along with other genomic variants helped to construct the genome sequence of the most recent common ancestor to all modern human populations which provides a better alternative to human reference genome and can be a useful resource for the study of personal genomics, population genetics, human and primate evolution.

Associations between area-level unemployment, body mass index, and risk factors for cardiovascular disease in an urban area

INTRODUCTION: Il existe peu d’évidences sur l’association entre le taux de chômage dans le milieu résidentiel (CR) et le risque de maladies cardiovasculaires parmi les résidents de milieux urbains. De plus, on ne sait pas si ce lien diffère entre les deux sexes. Cette thèse a pour objectif de déterminer la direction et la taille de l’association entre le CR et le risque de maladies cardiovasculaires, et d’examiner si cette association varie en fonction du sexe. MÉTHODES: Un sous-échantillon de 342 participants de l’Étude sur les habitudes de vie et la santé dans les quartiers montréalais a rapporté ses habitudes de vie et sa situation socio-économique. Des mesures biologiques et anthropométriques ont été recueillies par une infirmière. Le CR a été opérationnalisé en fonction d’une zone-tampon d’un rayon de 250 m centrée sur la résidence de chacun des participants à l’aide d’un Système d’Information Géographique (SIG). Des équations d’estimation généralisées ont été utilisées afin d’estimer l’association entre le CR et l’Indice de Masse Corporelle (IMC) et un score cumulatif de Risque Cardio-métabolique (RC) représentant la présence de valeurs élevées de cholestérol total, de triglycérides, de lipoprotéines de haute densité et d’hémoglobine glyquée. RÉSULTATS: Après ajustement pour l’âge, le sexe, le tabagisme, les comportements de santé et le statut socio-économique, le fait de vivre dans un endroit classé dans le 3e ou 4e quartile de CR était associé avec un IMC plus élevé (beta pour Q4 = 2.1 kg/m2, IC 95%: 1.02-3.20; beta pour Q3 = 1.5 kg/m2, IC 95%: 0.55-2.47) et un taux plus élevé de risque cardiovasculaires Risque Relatif [RR pour Q4 = 1.82 (IC 95 %: 1.35-2.44); RR pour Q3 = 1.66 (IC 95%: 1.33-2.06)] par rapport au 1er quartile. L'interaction entre le sexe et le CR révèle une différence absolue d’IMC de 1.99 kg/m2 (IC 95%: 0.00-4.01) et un risque supérieur (RR=1.39; IC 95%: 1.06-1.81) chez les femmes par rapport aux hommes. CONCLUSIONS: Le taux de chômage dans le milieux résidentiel est associé à un plus grand risque de maladies cardiovasculaires, mais cette association est plus prononcée chez les femmes.

Reconfigurable Architectures for General-Purpose Computing

General-purpose computing devices allow us to (1) customize computation after fabrication and (2) conserve area by reusing expensive active circuitry for different functions in time. We define RP-space, a restricted domain of the general-purpose architectural space focussed on reconfigurable computing architectures. Two dominant features differentiate reconfigurable from special-purpose architectures and account for most of the area overhead associated with RP devices: (1) instructions which tell the device how to behave, and (2) flexible interconnect which supports task dependent dataflow between operations. We can characterize RP-space by the allocation and structure of these resources and compare the efficiencies of architectural points across broad application characteristics. Conventional FPGAs fall at one extreme end of this space and their efficiency ranges over two orders of magnitude across the space of application characteristics. Understanding RP-space and its consequences allows us to pick the best architecture for a task and to search for more robust design points in the space. Our DPGA, a fine- grained computing device which adds small, on-chip instruction memories to FPGAs is one such design point. For typical logic applications and finite- state machines, a DPGA can implement tasks in one-third the area of a traditional FPGA. TSFPGA, a variant of the DPGA which focuses on heavily time-switched interconnect, achieves circuit densities close to the DPGA, while reducing typical physical mapping times from hours to seconds. Rigid, fabrication-time organization of instruction resources significantly narrows the range of efficiency for conventional architectures. To avoid this performance brittleness, we developed MATRIX, the first architecture to defer the binding of instruction resources until run-time, allowing the application to organize resources according to its needs. Our focus MATRIX design point is based on an array of 8-bit ALU and register-file building blocks interconnected via a byte-wide network. With today's silicon, a single chip MATRIX array can deliver over 10 Gop/s (8-bit ops). On sample image processing tasks, we show that MATRIX yields 10-20x the computational density of conventional processors. Understanding the cost structure of RP-space helps us identify these intermediate architectural points and may provide useful insight more broadly in guiding our continual search for robust and efficient general-purpose computing structures.

Alumnes diferents. 'Alumnos diferentes'.

Resumen en catalán del autor

Descubrimos a los genios de la pintura.

Se trata, con esta experiencia, de introducir la enseñanza del arte, dentro de la Educación Plástica, en el proyecto curricular del centro. El objetivo principal es que el alumno, al final de la etapa, conozca nueve pintores, las características fundamentales de su estilo y sus obras más importantes. Para ello, se toma como eje común una serie de pintores representativos de los grandes periodos históricos, tanto españoles como europeos. La obra de los pintores se trabaja trimestralmente por ciclos. En Infantil, se estudia a Murillo, Claude Monet y Kandinsky; en Primaria, en primer ciclo, a Velázquez, Jean Seurat y Pablo Picasso; en el segundo ciclo a Goya, Matisse y Joan Miró; y en el tercer ciclo, a Dalí, el Greco y Van Gogh. En cuanto a las actividades, se trabaja la vida del autor, sobre todo, mediante el uso de Internet para obtener información; y artículos de revista sobre la persona y entorno social del pintor. Para el estudio de las obras, se analiza un cuadro representativo mediante actividades concretas como visitas a museos o elaboración de trabajos. Se incluyen, en anexos, las actividades realizadas de cada pintor; la guía para la observación de los cuadros; y objetivos, contenidos y criterios de evaluación de cada sesión.

Aprendemos distintos lenguajes a través del arte.

En este proyecto se utiliza la pintura como medio de aprendizaje en las áreas de Lengua española e inglesa. En cada ciclo se estudia la obra de varios pintores representativos de las principales corrientes artísticas desde el Renacimiento hasta el siglo XX y se trabaja cada trimestre sobre uno de ellos. Los objetivos principales son conocer la obra de varios autores relevantes en la historia del arte; utilizar el conocimiento de los elementos plásticos para el análisis de producciones artísticas propias y ajenas; realizar obras artísticas propias de forma cooperativa; explorar diversos materiales y técnicas para conocer sus propiedades y posibilidades de uso con fines expresivos; conocer y respetar las principales manifestaciones artísticas presentes en el entorno, además del patrimonio cultural; y desarrollar la competencia comunicativa en español e inglés a través de distintas técnicas de expresión. En primer lugar, se realiza una presentación del autor seleccionado y de la corriente artística a la que se adscribe. A continuación, se llevan a cabo distintas actividades. Entre ellas, hay visitas a museos, proyecciones, audiciones de música, elaboración de murales, observación de reproducciones de obras de arte, lectura de libros, consulta de Internet y de recursos en soporte electrónico, y realización de dibujos y collages. Se incluye una descripción detallada de todas las experiencias.

Alumnos con necesidades educativas especiales

Esta obra consta de dos tomos. El primero 'Gu??a de adaptaci??n de materiales did??cticos', ofrece al profesor-tutor criterios, directrices y estrategias para la adaptaci??n de materiales de uso cotidiano en el aula, provocando que los alumnos con discapacidad se acerquen a las actividades que llevan a cabo el grupo clase, al mismo tiempo que posibilita que dichos alumnos alcancen una percepci??n de la realidad igual que la de sus compa??eros de aula. El segundo tomo 'Pensamiento del profesorado sobre la necesidad de adaptaci??n de materiales did??cticos', muestra con claridad los principios que sirven de fundamento a la necesidad de elaborar esta gu??a. As?? se permite evidenciar el contraste emp??rico de la propuesta con los propios maestros y profesionales del dise??o y la intervenci??n psicopedag??gica.

Alumnos con dificultades de aprendizaje en la educaci??n primaria

Contiene: Vol.1: El marco general. Vol.2.: El director del colegio. Vol 3.: El profesor de apoyo. Vol. 4.: El profesor tutor. Vol. 5.: La planificaci??n del primer programa. Vol. 6.: La programaci??n : elementos complementarios. Vol. 7.: La organizaci??n del aula. Vol. 8.: Hojas de actividades

Alumnos precoces, superdotados y de altas capacidades

Anexo de glosario y listado de asociaciones, entidades y profesionales

El alumno con retraso mental en la escuela ordinaria

Contiene: Gu??a funcional, explicativa de las unidades que componen la caja -- Tema I: Introducci??n -- Temas II y III: Evaluaci??n I y II -- Temas IV y V: Respuesta educativa I y II -- Tema VI: Escuela-familia -- Gr??ficos, incluye transparencias y carteles -- Video