Search results for "RSC"
showing 10 items of 229 documents
Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype
2021
Purpose Despite a few recent reports of patients harboring truncating variants in NSD2, a gene considered critical for the Wolf–Hirschhorn syndrome (WHS) phenotype, the clinical spectrum associated with NSD2 pathogenic variants remains poorly understood. Methods We collected a comprehensive series of 18 unpublished patients carrying heterozygous missense, elongating, or truncating NSD2 variants; compared their clinical data to the typical WHS phenotype after pooling them with ten previously described patients; and assessed the underlying molecular mechanism by structural modeling and measuring methylation activity in vitro. Results The core NSD2-associated phenotype includes mostly mild dev…
Total colonic aganglionosis and cleft palate in a newborn with Janus-cysteine 618 mutation of RET proto-oncogene: a case report.
2020
Abstract Background Hirschsprung disease, the most important congenital colonic dysmotility in children results from neural crest migration, differentiation, proliferation, or apoptosis defects where the rearranged during transfection (RET)-Protooncogene pathway has a central role. Although palatal and retinal anomalies in the context of chromosomopathies and some mono−/oligogenic syndromes are reported associated with Hirschsprung disease the role of inactivating RET mutations in these cases is not clarified. Case presentation We report on a dysmorphic newborn with cleft palate and palatal synechia, who showed intestinal obstruction after 24 h of life. Transient ileostomy and surgical biop…
Bipolar disorders and Rorschach: State of the art
2010
International audience; This article is a review of the literature concerning the use of the Rorschach test in the context of bipolar disorders. Even though the first research dates back to the origin of the test, very few studies have been conducted so far. The known research mostly concerns: the description of the psychological functioning of bipolar patients throughout the different phases of the illness, the comparison with other psychopathological designs in order to set up a differential diagnosis (unipolar disorders, schizophrenic disorders, schizoaffective disorders) and to seek endophenotypes. This article aims at summarizing the findings of these studies and at discussing their me…
Odyssey Towards a Sirenic Thinking: An Attempt at a Self-Criticism of the Listening Paradigm Within Sound Studies
2021
Abstract This text departs from a contradictory claim in deaf studies and sound studies: both disciplines describe a hierarchical regime of the sensible – visuocentrism and audiocentrism – which they try to counter with conceptualisations as “acoustemology” or “deaf gain.” However, as we argue, they both thereby erect what they claim to overcome: a sensual regime that privileges one sense over another and a restricted conception of subjectivity deriving from it. First, we draw a philosophical line in the critique of sensual regimes. Then we propose a figure for the transcendence of the separation of the sensible: in re-reading of the myth of Odysseus and the sirens, we engage various exampl…
„Wir wussten, dass es schwierig wird, doch damit haben wir nicht gerechnet!“ Erfahrungen beim Studieneinschluss von Krebspatient*innen mit Migrations…
2021
Zusammenfassung Hintergrund Der Prozess des Studieneinschlusses von Teilnehmenden ist ein wichtiger Bestandteil und oftmals aufwendiger Arbeitsschritt in wissenschaftlichen Forschungsprojekten. Aufgrund unterschiedlicher finanzieller, organisatorischer und ethischer Rahmenbedingungen stellt die fristgerechte Gewinnung von Teilnehmenden haufig eine Herausforderung dar. In diesem Beitrag berichten wir uber unsere Erfahrungen hinsichtlich des Studieneinschlusses, die wir im Projekt „Psychoonkologische Versorgung von Krebspatienten mit Migrationshintergrund – eine Mixed-Methods-Studie“ (POM) gemacht haben. Methode Die Gewinnung von Teilnehmenden erfolgte uber ambulante hamato-onkologische Schwe…
Mapping the Idea of Europe : Cultural Production of Border Imaginaries through Heritage
2021
In contrast to recent reinforcements of Europe's internal and external borders due to the refugee situation on the Mediterranean and the Covid-19 outbreak, talk of European borders has in the past decades focused on the freedom of mobility guaranteed by the Schengen treaty. In many senses, free intra-European mobility has become a recited truth in the EU discourse: a phrase that hides under its repetition the gap between its implied content and empirical realities of many of those who are affected by European borders’ exclusive tendencies. Through the concept of borderscape, this article focuses on the role that cultural products – especially maps exhibited at heritage sites – have in recit…
Innovation Policies for Regional Structural Change: Combining Actor-Based and System-Based Strategies
2018
This chapter analyses opportunities and challenges for regional innovation policies designed to promote new path development in different types of regional innovation systems (RISs). RISs differ enormously in their capacity to develop new growth paths due to pronounced differences in endogenous potentials and varying abilities to attract and absorb exogenous sources for new path development. We distinguish between different types of regional industrial path development, which reflect various degrees of radicalness of regional structural change. The chapter offers a conceptual analysis of conditions and influences that enable and constrain new path development in different types of RISs and …
Moricsalas vēsturiskā izkārtne
2022
Atzīmējot Moricsalas dabas rezervāta dibināšanas 110 gadadienu, Latvijas Universitātes Muzejs par mēneša priekšmetu izvēlējās rezervāta vēsturisko izkārtni. Rakstā sniegta informācija par rezervāta tapšanu un muzeja krājuma priekšmetiem, kas ir rezervāta pastāvēšanas pirmajām desmitgadēm.
Emotional Factors and Subjective Quality of Life in Subjects with Spinal Cord Injuries
2002
Benony H, Daloz L, Bungener C, Chahraoui K, Frenay C, Auvin J: Emotional factors and subjective quality of life in subjects with spinal cord injuries. Am J Phys Med Rehabil 2002;81:437- 445. Objective: To compare depression, subjective perception of quality of life, and social support in patients with spinal cord injuries 4 yr or more after trauma vs. controls. Design: The Rorschach inkblot method, the Diagnostic Interview Schedule Self-Administered, the Progressive Matrix 38, the Social Support Appraisals, and the Subjective Quality of Life Profile were used to assess 33 patients with spinal cord injuries and 33 matched controls. Results: No significant difference was observed for levels o…
Repetition suppression versus enhancement — it's quantity that matters
2013
Upon repetition, certain stimuli induce reduced neural responses (i.e., repetition suppression), whereas others evoke stronger signals (i.e., repetition enhancement). It has been hypothesized that stimulus properties (e.g., visibility) determine the direction of the repetition effect. Here, we show that the very same stimuli can induce both repetition suppression and enhancement, whereby the only determining factor is the number of repetitions. Repeating the same, initially novel low-visible pictures of scenes for up to 5 times enhanced the blood oxygen level-dependent (BOLD) response in scene-selective areas, that is, the parahippocampal place area (PPA) and the transverse occipital sulcus…