Genetic Testing in Inherited Heart Diseases
HEART LUNG AND CIRCULATION
Authors: Ingles, Jodie; Macciocca, Ivan; Morales, Ana; Thomson, Kate
Abstract
Inherited heart diseases include numerous conditions, from the more prevalent hypertrophic cardiomyopathy (HCM) and familial hypercholesterolaemia (FH), to the comparatively less common inherited arrhythmia syndromes, such as long QT syndrome (LQTS), catecholaminergic polymorphic ventricular tachycardia (CPVT) and Brugada syndrome (BrS). Genetic testing has evolved rapidly over the last decade and is now considered a mainstream component of clinical management of inherited heart diseases. Cardiac manifestations can also be part of wider syndromes, and genetic testing can play a critical role in clarifying the underlying aetiological basis of disease in some cases. The greatest utility of a genetic diagnosis, however, comes from the ability to elucidate disease risk amongst asymptomatic at-risk family members. Given the nuances and challenges, cardiac genetic testing is best performed in a multidisciplinary specialised clinic with access to cardiac genetic counselling.
Engineering students' perceptions of the role of ESP courses in internationalized universities
ENGLISH FOR SPECIFIC PURPOSES
Authors: Arno-Macia, Elisabet; Aguilar-Perez, Marta; Tatzl, Dietmar
Abstract
Recently there has been a trend towards English-medium instruction (EMI) with increasing numbers of programs taught in English (Wachter & Maiworm, 2014). At the same time, there has been a long tradition of ESP courses aiming at preparing students for effective academic and professional communication. In an increasingly internationalized context, it is necessary to reappraise current ESP courses in order to find out the extent to which they are adapted to the ever-changing needs of engineering graduates in a globalized world. Within this context, this study looks at the impact of ESP courses on university students of engineering in two European universities (Spain and Austria). Specifically, our research was based in three campuses: two campuses from Universitat Politecnica de Catalunya (Spain), UPC-Vilanova (n = 52) and UPC-Barcelona (n = 26), and a third campus at FH Joanneum University of Applied Sciences (FHJ) in Austria (n = 17). This research set out to track participants' perceptions of how ESP courses prepared them for academic communication in general and EMI in particular (N = 95). Data stem mainly from surveys administered both at the start and at the end of an ESP course. Students were asked about their perceived initial level of proficiency, their expectations, and their learning objectives (first survey, TI) as well as their perceived development in the different skills, the degree of fulfilment of their initial learning objectives, and their evaluation of the ESP course as preparation for international academic and professional communication (second survey, T2). These data were complemented with qualitative diary entries from students (n = 7) who reflected on their learning at different stages of their ESP course. Results point to overall satisfaction with ESP courses and greater awareness of the nature of specialized communication and yield deeper insights into students' strategies and areas where ESP can contribute to better student preparation and empowerment. (C) 2019 Elsevier Ltd. All rights reserved.