Search results for "CHD"

Fachsprachen als Objekte der Diskurslinguistik: Epistemologische und methodologische Überlegungen am Beispiel von Finanzdiskursen

2020

International audience; Kontext und Problemstellung Dass Fachsprachen sich nicht auf Terminologie und Phraseologie reduzieren lassen – wie einst von der ISO-Norm 1087 behauptet –, ist seit langem zur Binsenwahrheit in der Fachsprachenforschung (Roelcke 2010) geworden. Die so gennannten textlinguistischen und kognitiven „Wenden“ (Figge 2000, Adazmik 2004) haben Begriffe wie Textmuster, Wissenssysteme, mentale Repräsentationen usw. in neues Licht gerückt und auch für die Analyse von Fachtexten fruchtbar gemacht (vgl. Baumann 1992 für ein erstes integratives Analysemodell). Vor diesem Hintergrund und im Anschluss an Gautier (2008, 2014, 2019) zielt der Beitrag darauf ab, die hohe Relevanz der…

Der Modus der indirekten Rede in der Sprache Luthers

2010

International audience

Zur Legitimität der Einordnung ausgewählter sprachlicher Elemente als Helvetismen : Stichprobenartige Überprüfung

2010

Teacher Educators’ Professional Identity in English-Medium Instruction at a Finnish University

2021

Publisher Copyright: © 2021, University of Ljubljana. All rights reserved. Although different forms of English-medium instruction (EMI) are being recognised, the different ways in which EMI can impact the pedagogical activities and expertise of higher education educators have received less attention. Using face-to-face and written interviews with nine teacher educators at a Finnish university, this study examines the most important aspects teacher educators perceive in their work through EMI and how these aspects connect to the understanding of their professional identity. The study is theoretically premised on the interconnected concepts of pedagogical doing, pedagogical being, pedagogical…

Los viajes de Maximiliano a España y Brasil: el largo camino hacia el imperio mexicano

1970

En mayo de 1864 Maximiliano de Austria llega a la costa mexicana en el que será su último viaje, que culminará con su ejecución tres años después. Mucho se ha escrito sobre las razones que le impulsaron a aceptar la corona de México, un país tan alejado en todos los sentidos de su entorno cultural, sin embargo, años antes Maximiliano había viajado a España y a Brasil (a España en dos ocasiones) y estas experiencias, si no determinantes, influyeron en gran medida en la decisión del Archiduque, que vio la oportunidad de hacer realidad un sueño que se gestó en su viaje a España y se afianzó durante su estancia en Brasil, como se puede extraer de sus memorias de viaje. In May of 1864, Maximilia…

Nochmals zum (Fach-)Textmuster: von der Kognition zur Beschreibung einzelner Textexemplare

2009

Im Mittelpunkt des Aufsatzes steht die Frage nach der Anwendbarkeit des Textmuster-Begriffs auf die Beschreibung und auf die Analyse von Fachdiskursen. Es wird zunächst einmal kurz an die Diskussion erinnert, welche zur Unterscheidung von Textsorte und Textmuster geführt hat: während der erste Begriff den Text als statische Größe betrachtet, so fokussiert der zweite eher auf das Prozessuale an der Textproduktion und -rezeption. Aus diesem Grund scheint der Textmuster-Begriff für eine kognitive Herangehensweise besonders geeignet zu sein. Auf dieser Basis wird dann jede der traditionellen drei Textmuster-Komponenten unter die Lupe genommen (handlungstypisch-illokutive, inhaltlich-proposition…

Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability

2016

International audience; Neutropenia can be qualified as congenital when of neonatal onset or when associated with extra-hematopoietic manifestations. Overall, 30% of patients with congenital neutropenia (CN) remain without a molecular diagnosis after a multidisciplinary consultation and tedious diagnostic strategy. In the rare situations when neutropenia is identified and associated with intellectual disability (ID), there are few diagnostic hypotheses to test. This retrospective multicenter study reports on a clinically heterogeneous cohort of 10 unrelated patients with CN associated with ID and no molecular diagnosis prior to whole-exome sequencing (WES). WES provided a diagnostic yield o…

Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder

2017

AbstractGenetic risk factors for autism spectrum disorder (ASD) have yet to be fully elucidated. Postzygotic mosaic mutations (PMMs) have been implicated in several neurodevelopmental disorders and overgrowth syndromes. We systematically evaluated PMMs by leveraging whole-exome sequencing data on a large family-based ASD cohort, the Simons Simplex Collection. We found evidence that 11% of published single nucleotide variant (SNV)de novomutations are potentially PMMs. We then developed a robust SNV PMM calling approach that leverages complementary callers, logistic regression modeling, and additional heuristics. Using this approach, we recalled SNVs and found that 22% ofde novomutations like…

CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients

2015

Mutations in CHCHD10 have recently been described as a cause of frontotemporal dementia (FTD) comorbid with amyotrophic lateral sclerosis (ALS). The aim of this study was to assess the frequency and clinical characteristics of CHCHD10 mutations in Italian patients diagnosed with familial (n= 64) and apparently sporadic ALS (n= 224). Three apparently sporadic patients were found to carry c.100C>T (p.Pro34Ser) heterozygous variant in the exon 2 of CHCHD10. This mutation had been previously described in 2 unrelated French patients with FTD-ALS. However, our patients had a typical ALS, without evidence of FTD, cerebellar or extrapyramidal signs, or sensorineural deficits. We confirm that CHC…

Headache attributed to aeroplane travel: the first multicentric survey in a paediatric population affected by primary headaches

2018

BACKGROUND: This multicentric survey investigates the prevalence and characteristics of Airplane Headache in children affected by primary headaches. METHODS: Patients with symptoms of Airplane Headache were recruited from nine Italian Pediatric Headache Centres. Each patient was handed a structured questionnaire which met the ICHD-III criteria. RESULTS: Among 320 children suffering from primary headaches who had flights during their lifetime, 15 (4.7%) had Airplane Headache, with mean age of 12.4 years. Most of the patients were females (80%). The headache was predominantly bilateral (80%) and localized to the frontal area (60%); it was mainly pulsating, and lasted less than 30 min in all c…