Identification of 2 Novel ANTXR2 Mutations in Patients With Hyaline Fibromatosis Syndrome and Proposal of a Modified Grading System

Juvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISH) are rare, autosomal recessive disorders of the connective tissue caused by mutations in the gene encoding the anthrax toxin receptor 2 protein (ANTXR2) located on chromosome 4q21. Characteristically, these conditions present with overlapping clinical features, such as nodules and/or pearly papules, gingival hyperplasia, flexion contractures of the joints, and osteolytic bone defects. The present report describes a pair of sibs and three other JHF/ISH patients whose diagnoses were based on typical clinical manifestations and confirmed by histopathologic analyses and/or molecular analysis. A comparison of ISH and JHF, additional thoughts about new terminology (hyaline fibromatosis syndrome) and a modified grading system are also included. (C) 2012 Wiley Periodicals, Inc.

Recognizing cultural concepts: Joyce, Woolf, Mann and Musil

The purpose of this thesis is to establish a direct relationship between literature and fields of knowledge such as science and technology, by focusing on some concepts that were fundamental for both science and the humanities at the beginning of the 20th century. The concepts are those of simultaneity, multiple points of view, map, relativity and acausality. In the spirit of several recent ideas, for example Katherine Hayles’ isomorphism notion, the dissertation shows how writers such as James Joyce, Virginia Woolf, Thomas Mann and Robert Musil developed the mentioned concepts within their narratives. The working hypothesis is that those concepts were at a crossroad of human activities, and that those authors used them extensively within their narratives. It is further argued that those same concepts – as developed by Joyce in Ulysses, Woolf’s shorts stories and novels from the end of the 1910’s until the end of the1920’s, Mann’s Der Zauberberg (The Magic Mountain), and Musil’s Der Mann ohne Eigenschaften (The Man Without Qualities) — are still fundamental for our conception of time and space today. The thesis is divided into two parts. The first two chapters will analyse the concepts of simultaneity and multiple points of view and their relationship to cartography as developed within English literature and culture. The next two chapters will address the concepts of relativity and acausality, as developed within German literature and culture.

When Beauty Goes to Sleep: an analysis of the symbolism behind the sleeping beauty tale

Approaching the world of the fairy tale as an adult, one soon realizes that things are not what they once seemed during story time in bed. Something that once appeared so innocent and simple can become rather complex when digging into its origin. A kiss, for example, can mean something else entirely. I can clearly remember my sister, who is ten years older than I am, telling me that the fairy tales I was told had a mysterious hidden meaning I could not understand. I was probably 9 or 10 when she told me that the story of Sleeping Beauty, which I used to love so much in Disney’s rendering, was nothing more than the story of an adolescent girl, with all the necessary steps needed to become a woman, the bleeding of menstruation and the sexual awakening - even though she did not really put it in these terms. This shocking news troubled me for a while, so much so that I haven’t watched that movie since. But in reality it was not fear that my sister had implanted in me: it was curiosity, the feeling that I was missing something terribly important behind the words and images. But it was not until last year during my semester abroad in Germany, where I had the chance to take a very interesting English literature seminar, that I fully understood what I had been looking for all these years. Thanks to what I learned from the work of Bruno Bettelheim, Jack Zipes, Vladimir Propp, and many other authors that wrote extensively about the subject, I feel I finally have the right tools to really get to know this fairy tale. But what I also know now is that the message behind fairy tales is not to be searched for behind only one version: on the contrary, since they come from oral traditions and their form was slowly shaped by centuries of recountals and retellings, the more one digs, the more complete the understanding of the tale will be. I will therefore look for Sleeping Beauty’s hidden meaning by looking for the reason why it did stick so consistently throughout time. To achieve this goal, I have organized my analysis in three chapters: in the first chapter, I will analyze the first known literary version of the tale, the French Perceforest, and then compare it with the following Italian version, Basile’s Sun, Moon, and Talia; in the second chapter, I will focus on the most famous and by now classical literary versions of Sleeping Beauty, La Belle Au Bois Dormant, written by the Frenchman, Perrault, and the German Dornröschen, recorded by the Brothers Grimm’s; finally, in the last chapter, I will analyze Almodovar’s film Talk to Her as a modern rewriting of this tale, which after a closer look, appears closely related to the earliest version of the story, Perceforest.

Re-evaluation of pulmonary titanium dioxide nanoparticle distribution using the "relative deposition index": Evidence for clearance through microvasculature

ABSTRACT: BACKGROUND: Translocation of nanoparticles (NP) from the pulmonary airways into other pulmonary compartments or the systemic circulation is controversially discussed in the literature. In a previous study it was shown that titanium dioxide (TiO2) NP were "distributed in four lung compartments (air-filled spaces, epithelium/endothelium, connective tissue, capillary lumen) in correlation with compartment size". It was concluded that particles can move freely between these tissue compartments. To analyze whether the distribution of TiO2 NP in the lungs is really random or shows a preferential targeting we applied a newly developed method for comparing NP distributions. METHODS: Rat lungs exposed to an aerosol containing TiO2 NP were prepared for light and electron microscopy at 1 h and at 24 h after exposure. Numbers of TiO2 NP associated with each compartment were counted using energy filtering transmission electron microscopy. Compartment size was estimated by unbiased stereology from systematically sampled light micrographs. Numbers of particles were related to compartment size using a relative deposition index and chi-squared analysis. RESULTS: Nanoparticle distribution within the four compartments was not random at 1 h or at 24 h after exposure. At 1 h the connective tissue was the preferential target of the particles. At 24 h the NP were preferentially located in the capillary lumen. CONCLUSION: We conclude that TiO2 NP do not move freely between pulmonary tissue compartments, although they can pass from one compartment to another with relative ease. The residence time of NP in each tissue compartment of the respiratory system depends on the compartment and the time after exposure. It is suggested that a small fraction of TiO2 NP are rapidly transported from the airway lumen to the connective tissue and subsequently released into the systemic circulation.

Un nuevo viaje de Teseo : De la Antigüedad a la Edad Media y al Renacimiento inglés

El presente trabajo propone explorar el modo cómo la literatura inglesa se apropia de la figura del héroe ático por antonomasia, Teseo, prefiriendo a las historias relacionadas con la aventura aquellas que lo muestran como figura garante del orden y de la sabiduría. Proponemos rastrear el modo cómo el héroe es presentado en el "Cuento del caballero" de los Canterbury Tales, representando no sólo el discurso patriarcal sino y, al mismo tiempo, quien desata las contiendas y quien las re-ordena. En este sentido, la figura del cuento- épico en el sentido bajtiniano del término- testimonia el discurso del orden, donde el varón es el eje vertebrador de la sociedad civil y familiar. Shakespeare, que había tomado contacto con las fuentes clásicas y medievales-tanto italianas como inglesas- incorpora en su Sueño de una noche de verano a un nuevo Teseo, que no sólo discurre acerca de la imaginación sino que también retoma la idea de orden a partir de la proclama de que es necesario someter las trampas de la imaginación a la prueba de la "fría razón". A partir de estos dos ejemplos, trataremos de reflexionar el modo cómo la literatura inglesa se apropió de estos mitos clásicos

Palabra y construcción de la identidad en Harry Potter and the Philosopher's Stone

En Harry Potter and the Philosopher's Stone, texto inaugural del ciclo novelístico de J. K. Rowling, aparecen diversos elementos y situaciones que inscriben el relato dentro del género bildungsroman (o novela de formación) y que a su vez son constitutivos del monomito estudiado por Joseph Campbell. Dentro de ese marco, el presente trabajo analizará la función que desempeña la palabra en el desarrollo del protagonista de la novela. Se sostendrá que la adquisición y el dominio pleno de una palabra permiten construir la subjetividad del personaje, quien valiéndose de esta herramienta se volverá capaz de disipar sus inquietudes frente a lo desconocido y al peso de la voz popular. El estudio se centrará en el nombre del antagonista, Lord Voldemort, su influencia en la saga y en cuán importante es que Harry sea capaz de nombrarlo por ese apelativo. Para este abordaje se utilizarán algunos conceptos de diversas disciplinas que nos permitirán advertir la injerencia de la palabra en la novela seminal de esta serie literaria y en el tránsito del personaje por la compleja senda del héroe

Un nuevo viaje de Teseo : De la Antigüedad a la Edad Media y al Renacimiento inglés

El presente trabajo propone explorar el modo cómo la literatura inglesa se apropia de la figura del héroe ático por antonomasia, Teseo, prefiriendo a las historias relacionadas con la aventura aquellas que lo muestran como figura garante del orden y de la sabiduría. Proponemos rastrear el modo cómo el héroe es presentado en el "Cuento del caballero" de los Canterbury Tales, representando no sólo el discurso patriarcal sino y, al mismo tiempo, quien desata las contiendas y quien las re-ordena. En este sentido, la figura del cuento- épico en el sentido bajtiniano del término- testimonia el discurso del orden, donde el varón es el eje vertebrador de la sociedad civil y familiar. Shakespeare, que había tomado contacto con las fuentes clásicas y medievales-tanto italianas como inglesas- incorpora en su Sueño de una noche de verano a un nuevo Teseo, que no sólo discurre acerca de la imaginación sino que también retoma la idea de orden a partir de la proclama de que es necesario someter las trampas de la imaginación a la prueba de la "fría razón". A partir de estos dos ejemplos, trataremos de reflexionar el modo cómo la literatura inglesa se apropió de estos mitos clásicos

Palabra y construcción de la identidad en Harry Potter and the Philosopher's Stone

En Harry Potter and the Philosopher's Stone, texto inaugural del ciclo novelístico de J. K. Rowling, aparecen diversos elementos y situaciones que inscriben el relato dentro del género bildungsroman (o novela de formación) y que a su vez son constitutivos del monomito estudiado por Joseph Campbell. Dentro de ese marco, el presente trabajo analizará la función que desempeña la palabra en el desarrollo del protagonista de la novela. Se sostendrá que la adquisición y el dominio pleno de una palabra permiten construir la subjetividad del personaje, quien valiéndose de esta herramienta se volverá capaz de disipar sus inquietudes frente a lo desconocido y al peso de la voz popular. El estudio se centrará en el nombre del antagonista, Lord Voldemort, su influencia en la saga y en cuán importante es que Harry sea capaz de nombrarlo por ese apelativo. Para este abordaje se utilizarán algunos conceptos de diversas disciplinas que nos permitirán advertir la injerencia de la palabra en la novela seminal de esta serie literaria y en el tránsito del personaje por la compleja senda del héroe

Un nuevo viaje de Teseo : De la Antigüedad a la Edad Media y al Renacimiento inglés

El presente trabajo propone explorar el modo cómo la literatura inglesa se apropia de la figura del héroe ático por antonomasia, Teseo, prefiriendo a las historias relacionadas con la aventura aquellas que lo muestran como figura garante del orden y de la sabiduría. Proponemos rastrear el modo cómo el héroe es presentado en el "Cuento del caballero" de los Canterbury Tales, representando no sólo el discurso patriarcal sino y, al mismo tiempo, quien desata las contiendas y quien las re-ordena. En este sentido, la figura del cuento- épico en el sentido bajtiniano del término- testimonia el discurso del orden, donde el varón es el eje vertebrador de la sociedad civil y familiar. Shakespeare, que había tomado contacto con las fuentes clásicas y medievales-tanto italianas como inglesas- incorpora en su Sueño de una noche de verano a un nuevo Teseo, que no sólo discurre acerca de la imaginación sino que también retoma la idea de orden a partir de la proclama de que es necesario someter las trampas de la imaginación a la prueba de la "fría razón". A partir de estos dos ejemplos, trataremos de reflexionar el modo cómo la literatura inglesa se apropió de estos mitos clásicos

Palabra y construcción de la identidad en Harry Potter and the Philosopher's Stone

En Harry Potter and the Philosopher's Stone, texto inaugural del ciclo novelístico de J. K. Rowling, aparecen diversos elementos y situaciones que inscriben el relato dentro del género bildungsroman (o novela de formación) y que a su vez son constitutivos del monomito estudiado por Joseph Campbell. Dentro de ese marco, el presente trabajo analizará la función que desempeña la palabra en el desarrollo del protagonista de la novela. Se sostendrá que la adquisición y el dominio pleno de una palabra permiten construir la subjetividad del personaje, quien valiéndose de esta herramienta se volverá capaz de disipar sus inquietudes frente a lo desconocido y al peso de la voz popular. El estudio se centrará en el nombre del antagonista, Lord Voldemort, su influencia en la saga y en cuán importante es que Harry sea capaz de nombrarlo por ese apelativo. Para este abordaje se utilizarán algunos conceptos de diversas disciplinas que nos permitirán advertir la injerencia de la palabra en la novela seminal de esta serie literaria y en el tránsito del personaje por la compleja senda del héroe

The COG database: new developments in phylogenetic classification of proteins from complete genomes

The database of Clusters of Orthologous Groups of proteins (COGs), which represents an attempt on a phylogenetic classification of the proteins encoded in complete genomes, currently consists of 2791 COGs including 45 350 proteins from 30 genomes of bacteria, archaea and the yeast Saccharomyces cerevisiae (http://www.ncbi.nlm.nih.gov/COG). In addition, a supplement to the COGs is available, in which proteins encoded in the genomes of two multicellular eukaryotes, the nematode Caenorhabditis elegans and the fruit fly Drosophila melanogaster, and shared with bacteria and/or archaea were included. The new features added to the COG database include information pages with structural and functional details on each COG and literature references, improvements of the COGNITOR program that is used to fit new proteins into the COGs, and classification of genomes and COGs constructed by using principal component analysis.

Efectos de la erosión del suelo sobre los patrones de la vegetación y su composición florística. Una revisión bibliográfica

En este artículo se revisan los estudios realizados sobre la influencia que tienen los procesos erosivos sobre la vegetación. Fundamentalmente se revisan las tendencias generales en la composición florística de las comunidades vegetales sometidas a fuertes procesos erosivos, así como las tendencias de los patrones de la vegetación y, en menor medida, de los atributos y tipos de plantas. Este campo de trabajo presenta pocos precedentes, siendo escasos los estudios de la influencia de la erosión sobre la vegetación desde un punto de vista ecológico-botánico. Por otro lado, algunos de los resultados parecen a primera vista contradictorios, por lo que es difícil extraer tendencias generales y más o menos universales. Algunas de las generalidades observadas son que el incremento de la erosión del suelo produce un descenso muy claro y mantenido en la cobertura vegetal y en el número de especies. El proceso erosivo no suele acarrear una sustitución de especies vegetales y comunidades, sino solamente la pérdida paulatina de especies, al menos en los estadios más degradados. Por otro lado, se ha observado en ocasiones que la flora de los terrenos más erosionados depende muy fuertemente de las características de la roca madre, variando más entre litologías que la flora de terrenos menos erosionados. Los hemicriptófitos y los caméfitos son las formas vitales de Raunkiaer más frecuentes en estos ambientes. Se discute el papel que pueden tener las diferencias de clima, procesos y tasas erosivas para explicar la gran diversidad de tendencias observadas.

Mathematical notebook, and commonplace book, circa 1689-1769

Manuscript notebook, possibly kept by Harvard students, containing 17th century English transcriptions of arithmetic and geometry texts, one of which is dated 1689-1690; 18th century transcriptions from John Ward’s “The Young Mathematician’s Guide”; and notes on physics lectures delivered by John Winthrop, the Hollis Professor of Mathematics and Natural Philosophy at Harvard from 1738 to 1779. The notebook also contains 18th century reading notes on Henry VIII, Tudor succession, and English history from Daniel Neal’s “The History of the Puritans” and David Hume’s “History of England,” and notes on Ancient history, taken mainly from Charles Rollin’s “The Ancient History of the Egyptians, Carthaginians, Assyrians, Babylonians, Medes and Persians, Macedonians and Grecians.” Additionally included are an excerpt from Plutarch’s “Lives” and transcriptions of three articles from “The Gentleman’s Magazine, and Historical Chronicle,” published in 1769: “A Critique on the Works of Ovid”; a book review of “A New Voyage to the West-Indies”; and “Genuine Anecdotes of Celebrated Writers, &.” The flyleaf contains the inscription “Semper boni aliquid operis facito ut diabolus te semper inveniat occupatum,” a variation on a quote of Saint Jerome that translates approximately as “Always good to do some work so that the devil may always find you occupied.” In the seventeenth and eighteenth centuries, Harvard College undergraduates often copied academic texts and lecture notes into personal notebooks in place of printed textbooks. Winthrop used Ward’s textbook in his class, while the books of Hume, Neal, and Rollin were used in history courses taught at Harvard in the 18th century.

Bullying Victimization and Perpetration Among Adolescent Sport Teammates

Purpose: Bullying is a specific pattern of repeated victimization explored with great frequency in school-based literature, but receiving little attention within sport. The current study explored the prevalence of bullying in sport, and examined whether bullying experiences were associated with perceptions about relationships with peers and coaches. Method: Adolescent sport team members (n = 359, 64% female) with an average age of 14.47 years (SD = 1.34) completed a pen-and-paper or online questionnaire assessing how frequently they perpetrated or were victimized by bullying during school and sport generally, as well as recent experiences with 16 bullying behaviors on their sport team. Participants also reported on relationships with their coach and teammates. Results: Bullying was less prevalent in sport compared with school, and occurred at a relatively low frequency overall. However, by identifying participants who reported experiencing one or more act of bullying on their team recently, results revealed that those victimized through bullying reported weaker connections with peers, whereas those perpetrating bullying only reported weaker coach relationships. Conclusion: With the underlying message that bullying may occur in adolescent sport through negative teammate interactions, sport researchers should build upon these findings to develop approaches to mitigate peer victimization in sport.

Escoliose no contexto de distrofia muscular

Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2014