Discourses on Fantasy: A Narrative Allegory

This project, though officially designated by the English Department as a creative thesis, is really a hybrid work that combines creative writing with literary criticism. The work is structured as a dream vision, a literary genre popular in the Middle Ages in which a narrator receives some form of instruction or wisdom through an allegorical dream. Examples include The Pearl, The Romance of the Rose, and Chaucer\u27s House of Fame. In this thesis, the allegorical space of the dream vision provides a platform for a series of essays structured as dialogues. These dialogues explore the aesthetics and politics of modern fantasy and supernatural literature, focusing particularly on the opposition of this literature, which often draws on ancient and medieval source material, to modern capitalist society. The discourses themselves are not strictly critical, but incorporate subjectivity, metaphor, and symbolism in their investigation of cultural texts

Granulomatous skin lesions complicating Varicella infection in a patient with Rothmund-Thomson syndrome and immune deficiency: case report

Rothmund-Thomson syndrome (RTS)(OMIM 268400) is a rare autosomal recessive genodermatosis characterized by poikiloderma, small stature, skeletal and dental abnormalities, cataract and an increased risk of cancer. It is caused by mutations in RECQL4 at 8q24. Immune deficiency is not described as a classical feature of the disease. Here we report the appearance of granulomatous skin lesions complicating primary Varicella Zoster Virus infection in a toddler with Rothmund Thomson syndrome and immune deficiency. Although granulomatous disorders are sometimes seen after Herpes zoster, they are even more rare after Varicella primary infection. Granulomas have hitherto not been described in Rothmund-Thomson syndrome. With this report we aim to stress the importance of screening for immune deficiency in patients with Rothmund-Thomson syndrome

Développer la médiation documentaire numérique

Depuis quelques années, les bibliothèques investissent fortement l'Internet : catalogues en ligne, sites Web devenant peu à peu des portails de services, blogs et réseaux sociaux. Si l'objectif est bien d'être présent dans l'univers numérique des usagers existants ou potentiels, les bibliothèques, aussi bien universitaires que de lecture publique, doivent garder leur spécificité sous peine d'être noyées dans le flot général. L'un des axes de travail pour ce faire est de transposer en ligne la médiation documentaire, c'est-à-dire repenser pour l'Internet tous les moyens à mettre en œuvre pour favoriser la rencontre d'un lecteur avec les documents susceptibles de l'intéresser ou de lui ouvrir de nouveaux horizons. L'ouvrage traite de ce nouvel enjeu en proposant d'une part, un cadre général sur la médiation documentaire numérique (quelle politique documentaire favoriser ? Comment scénariser son catalogue, médiatiser un fonds patrimonial ou de jeux vidéo ? Comment définir son projet et accompagner les équipes ?) et d'autre part, des exemples concrets destinés à servir d'inspiration pour améliorer ou se lancer dans ce continent en pleine construction (quels contenus produire ? Quels outils utiliser ? Comment rédiger un billet de blog, un article de magazine en ligne, des coups de cœurs 2.0 ?). Coordonné par Xavier Galaup, directeur-adjoint de la médiathèque départementale du Haut-Rhin, ce volume collectif, qui réunit des auteurs d'horizons divers (universitaire, bibliothécaire et libraire), s'adresse à tous les acteurs des domaines de la culture et de l'éducation

The Mayer-Rokitansky-Küster-Hauser syndrome (congenital absence of uterus and vagina) – phenotypic manifestations and genetic approaches

The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome affects at least 1 out of 4500 women and has for a long time been considered as a sporadic anomaly. Congenital absence of upper vagina and uterus is the prime feature of the disease which, in addition, is often found associated with unilateral renal agenesis or adysplasia as well as skeletal malformations (MURCS association). The phenotypic manifestations of MRKH overlap various other syndromes or associations and thus require accurate delineation. Since MRKH manifests itself in males, the term GRES syndrome (Genital, Renal, Ear, Skeletal) might be more appropriate when applied to both sexes. The MRKH syndrome, when described in familial aggregates, seems to be transmitted as an autosomal dominant trait with an incomplete degree of penetrance and variable expressivity. This suggests the involvement of either mutations in a major developmental gene or a limited chromosomal deletion. Until recently progress in understanding the genetics of MRKH syndrome has been slow, however, now HOX genes have been shown to play key roles in body patterning and organogenesis, and in particular during genital tract development. Expression and/or function defects of one or several HOX genes may account for this syndrome

Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion

Schizophrenia occurs in about one in four individuals with 22q11.2 deletion syndrome (22q11.2DS). The aim of this International Brain and Behavior 22q11.2DS Consortium (IBBC) study was to identify genetic factors that contribute to schizophrenia, in addition to the similar to 20-fold increased risk conveyed by the 22q11.2 deletion. Using whole-genome sequencing data from 519 unrelated individuals with 22q11.2DS, we conducted genome-wide comparisons of common and rare variants between those with schizophrenia and those with no psychotic disorder at age >= 25 years. Available microarray data enabled direct comparison of polygenic risk for schizophrenia between 22q11.2DS and independent population samples with no 22q11.2 deletion, with and without schizophrenia (total n = 35,182). Polygenic risk for schizophrenia within 22q11.2DS was significantly greater for those with schizophrenia (p(adj) = 6.73 x 10(-6)). Novel reciprocal case-control comparisons between the 22q11.2DS and population-based cohorts showed that polygenic risk score was significantly greater in individuals with psychotic illness, regardless of the presence of the 22q11.2 deletion. Within the 22q11.2DS cohort, results of gene-set analyses showed some support for rare variants affecting synaptic genes. No common or rare variants within the 22q11.2 deletion region were significantly associated with schizophrenia. These findings suggest that in addition to the deletion conferring a greatly increased risk to schizophrenia, the risk is higher when the 22q11.2 deletion and common polygenic risk factors that contribute to schizophrenia in the general population are both present.United States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH National Institute of Mental Health (NIMH) U01MH101719 U01MH0101720 U01MH0101723 U01MH101722 U01MH101724 MH064824 R01 MH085953 R01-MH-107235 Brain and Behavior Foundation Young Researcher grant 21278 Comision Nacional de Investigacion Cientifica y Tecnologica (CONICYT) CONICYT FONDECYT 1171014 FWO G.0E11.17N MRC Centre grant MR/L010305/1 Welsh Government 514032 NARSAD United States Department of Health & Human Services National Institutes of Health (NIH) - USA R01GM117946 U54NS091859 R01MH100917 U54 EB020403 United States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH National Institute of Mental Health (NIMH) U01MH101724 R01 MH085953 K01 MH112774 P01HD070454 P50MH09689 R01-MH-1072351 P50MH096891 Canadian Institutes of Health Research (CIHR) MOP-74631 MOP-79518 MOP-89066 MOP-97800 MOP-111238 Swiss National Science Foundation (SNSF) 324730_144260 Swiss National Science Foundation (SNSF) 51NF40-185897 US-Israel Binational Science Foundation 2017370 Van de Werf fund for cardiovascular research Institute for the Promotion of Innovation by Science and Technology in Flanders (IWT) 131625 Wellcome Trust 102428/Z/13/Z McLaughlin Centre Accelerator grant Canada Research Chairs Dalglish Chair Max Appeal 22Crew Unique T32 MH019112 U01 MH087626 U54HD090260 UO1-MH191719 R01 MH087636-01A

Mild humoral immunodeficiency in a patient with X-linked Kabuki syndrome

status: publishe

Experimental analysis of radiation dose distribution in radiosurgery: I. Dose hot spot inside target volume.

INTRODUCTION: Radiosurgery is currently performed with different systems of focused radiation providing different dose heterogeneities within the target volume. Here, we aimed to study histological consequences of different dose distributions inside the target area in an experimental model of Gamma Knife irradiation in the rat striatum. MATERIAL AND METHODS: Twelve rats were irradiated by Gamma Knife at the same volume in the right striatum; the same margin dose of 45 Gy was prescribed for all rats. Three different dose distributions inside the target volume were applied. Brain sections at the level of the target area were histologically analyzed 3 months after irradiation. RESULTS: Of the 7 histopathological reactions found as a consequence of the irradiation, 6 of them were significantly related to the gradient of dose heterogeneity within the target volume. CONCLUSIONS: Dose distribution inside the target volume could influence the histological effects of radiosurgical irradiation on tissue included in the target. A high dose in the target volume is more likely to lead to the desired radiobiological result.Journal Articleinfo:eu-repo/semantics/publishe