Modification of ventricular repolarization in silent long QT syndrome mutation carriers

Congenital long QT syndrome (LQTS) is a familial disorder characterized by ventricular repolarization that makes carriers vulnerable to malignant ventricular tachycardia and sudden cardiac death. The three main subtypes (LQT1, LQT2 and LQT3) constitute 95% of cases. The disorder is characterized by a prolonged QT interval in electrocardiograms (ECG), but a considerable portion are silent carriers presenting normal (QTc < 440 ms) or borderline (QTc < 470 ms) QT interval. Genetic testing is available only for 60-70% of patients. A number of pharmaceutical compounds also affect ventricular repolarization, causing a clinically similar disorder called acquired long QT syndrome. LQTS carriers - who already have impaired ventricular repolarization - are especially vulnerable. In this thesis, asymptomatic genotyped LQTS mutation carriers with non-diagnostic resting ECG were studied. The body surface potential mapping (BSPM) system was utilized for ECG recording, and signals were analyzed with an automated analysis program. QT interval length, and the end part of the T wave, the Tpe interval, was studied during exercise stress testing and an epinephrine bolus test. In the latter, T wave morphology was also analyzed. The effect of cetirizine was studied in LQTS carriers and also with supra- therapeutic dose in healthy volunteers. At rest, LQTS mutation carriers had a slightly longer heart rate adjusted QTc interval than healthy subjects (427 ± 31 ms and 379 ± 26 ms; p<0.001), but significant overlapping existed. LQT2 mutation carriers had a conspicuously long Tpe-interval (113 ± 24 ms; compared to 79 ± 11 ms in LQT1, 81 ± 17 ms in LQT3 and 78 ± 10 ms in controls; p<0.001). In exercise stress tests, LQT1 mutation carriers exhibit a long QT interval at high heart rates and during recovery, whereas LQT2 mutation carriers have a long Tpe interval at the beginning of exercise and at the end of recovery at low heart rates. LQT3 mutation carriers exhibit prominent shortening of both QT and Tpe intervals during exercise. A small epinephrine bolus revealed disturbed repolarization, especially in LQT2 mutation carriers, who developed prolonged Tpe intervals. A higher epinephrine bolus caused abnormal T waves with a different T wave profile in LQTS mutation carriers compared to healthy controls. These effects were seen in LQT3 as well, a group that may easily escape other provocative tests. In the cetirizine test, the QT and Tpe intervals were not prolonged in LQTS mutation carriers or in healthy controls. Subtype-specific findings in exercise test and epinephrine bolus test help to diagnose silent LQTS mutation carriers and to guide subtype-specific treatments. The Tpe interval, which signifies the repolarization process, seems to be a sensitive marker of disturbed repolarization along with the QT interval, which signifies the end of repolarization. This method may be used in studying compounds that are suspected to affect repolarization. Cetirizine did not adversely alter ventricular repolarization and would not be pro-arrhythmic in common LQT1 and LQT2 subtypes when used at its recommended doses.

Miten esiopetusmateriaaleissa esitetään sukupuolta

Earlier school text book studies (eg Tainio and Teräs 2010, Blumberg 2007; Ohlander 2010) have shown that women are underrepresented in school books, both in illustrations and texts, and the genders are represented stereotyped. The study will examine how gender in seen on pre-school education materials. The aim of this study is to determine what kind of representations, discourses and the subject positions of the gender are presented in pre-school materials. This study utilizes a feminist research method. The theoretical starting points are the social constructivist, poststructuralist theory and gender studies. The concept of gender as a social construct. The research used content analysis as well as discource analysis and deconstructive reading. The material was used four different publishers, WSOY, Tammi, Otava and Lasten Keskus preschool integrated material packages, which contain the child's exercise book or booklet, and teacher's guide. The analysis examined the quantity of gender-specific images and gendered words and phrases, and representations of gender, subject position, and discourses, and what linguistic means had been used for representation of masculinity and femininity. Based on the results there were on average more masculine characters and words as feminine in the illustrations and stories of pre-school materials. Feminine and masculine characters representations emphasized traditional gender stereotypes, especially in external characteristics and clothing. Genders had the highest available, with the subject position of stereotypes with reduced mobility, but also other kinds of subject position was observed. The data found in the following gender discources: difference discource, diversity discource and similarity discource. The highest number occurred in the difference and diversity discources. However, there were differences between the different materials. In some materials there were more diverse gender representations and other materials highlighted the differences between genders. Overall, the genders were represented stereotypically in the pre-school materials.

Sanailua, kynäilyä, intoilua ja epäilyä : Oppilaiden kirjoitustaito ja sen arvioiminen alkuopetuksessa

Objectives. In primary education the pupils form a basis for their writing skills. By assessing pupils writing skills the teacher gathers information about the development of their skills and notices possible learning disabilities. The assessment of writing skills requires both knowledge of different evaluation methods and the phonological system in Finnish language. The purpose of this study is to analyze the pupils writing skills and different assessment methods that help the teacher in writing evaluation. The pupils writing skills are viewed from spelling, composing and writing motivation s point of view. Methods. The research material consists of dictation exercises, written stories and writing motivation self-assessments of 19 pupils. Dictation exercises measured the spelling skills of pupils and they were written in the spring of the first grade and the autumn of the second grade. Dictation exercises were analyzed with two different methods: mistake analysis and word-structure analysis. Information of pupils spelling skills development was gathered by comparing their performance in autumn s dictation exercise to spring s dictation. Composing skills were measured with stories that the pupils wrote. Both the stories and the writing motivation s self-assessment were made in the autumn of the second grade. Composing skills were analyzed according to assessment criteria formed for this study. Results. The spelling skill of most of the pupils had developed from the first grade s spring to the second grade s autumn. The spelling skills of half of the pupils (N=9) had improved significantly. The composing skills of the pupils varied largely. Strongest part of the pupils composing skill was following instructions and the weakest part was the use of versatile vocabulary and clause structures. The girls outdid the boys in all segments of their composing skills. For most pupils their spelling skill reflected their composing skill: good spellers were also good story writers. The relation between writing motivation and general writing skill was not this simple: some pupils (N=5) writing motivation was much higher than what would have been expected based on their writing skills.