On the influence of serotonin- and sex steroid-related genetic variation on mood, anxiety, personality, autism and transsexualism

Background: The neurotransmitter serotonin has been related to mood and anxiety, and variation in genes that encode important members of the serotonergic system may hence affect mood- and anxiety-related traits. Sex steroids influence brain development, and variation in genes encoding androgen and estrogen receptors, or enzymes needed for sex steroid synthesis, may be of importance for both personality traits and risk for psychiatric disorders. The specific aims of this thesis were: (i) to investigate the possible influence of serotonin-related genetic variation on the neural correlates of anxiety, and on mood- and anxiety-related phenotypes, including premenstrual dysphoric disorder (PMDD), depression and anxiety-related personality traits, (ii) to investigate the possible influence of sex steroid-related genetic variation on personality, autism spectrum disorder and transsexualism, and (iii) to try to ameliorate the chance of detecting effects of combinations of genetic variations by restricting the statistical analysis to particular patterns. Results: (i) The serotonin transporter (5-HTT) linked polymorphic region (5-HTTLPR) and a polymorphism in an important enzyme for serotonin synthesis (tryptophan hydroxylase 2; TPH2) were associated with amygdala response during presentation of angry faces in subjects with social phobia and controls. (ii) The same polymorphisms were associated with response to placebo and also with placebo-induced changes in amygdala activity during public speaking in subjects with social phobia. (iii) In men, genetic variation in the neurotrophic factor BDNF, which is closely related to the serotonergic system, was associated with the amount of serotonin transporter in the brain. (iv) Polymorphisms in genes that encode proteins important for the development of the serotonergic system (GATA2), for serotonin synthesis (TPH2) and for serotonergic transmission (5-HT3B) were associated with PMDD. (v) The 5-HTTLPR was shown to influence reports of controllable stressful life events in combination with the BDNF Val66Met polymorphism or anxiety-related personality traits in non-depressed men. (vi) Variants that may increase the function of the androgen receptor were associated with extraversion and spiritual acceptance in men. (vii) A variant that is associated with increased androgen receptor function was more common in women with autism spectrum disorder than in controls. (viii) The same androgen receptor polymorphism was associated with transsexualism in combination with polymorphisms in the genes encoding the estrogen receptor β or the testosterone-converting aromatase enzyme. (ix) A method that restricts the search for genetic combinations to monotone effect patterns was shown to increase the probability of finding gene-gene effects. Conclusions: The results support the notion that variation in genes that encode serotonin-related and sex steroid-related proteins are of importance for the psychiatric traits studied in this thesis

Students\u27 learning as the focus for shared involvement between universities and clinical practice: a didactic model for postgraduate degree projects.

In an academic programme, completion of a postgraduate degree project could be a significant means of promoting student learning in evidence- and experience-based practice. In specialist nursing education, which through the European Bologna process would be raised to the master\u27s level, there is no tradition of including a postgraduate degree project. The aim was to develop a didactic model for specialist nursing students\u27 postgraduate degree projects within the second cycle of higher education (master\u27s level) and with a specific focus on nurturing shared involvement between universities and healthcare settings. This study embodies a participatory action research and theory-generating design founded on empirically practical try-outs. The 3-year project included five Swedish universities and related healthcare settings. A series of activities was performed and a number of data sources secured. Constant comparative analysis was applied. A didactic model is proposed for postgraduate degree projects in specialist nursing education aimed at nurturing shared involvement between universities and healthcare settings. The focus of the model is student learning in order to prepare the students for participation as specialist nurses in clinical knowledge development. The model is developed for the specialist nursing education, but it is general and could be applicable to various education programmes

Verksamhetsf\uf6rlagd utbildning p\ue5 avancerad niv\ue5 – ny utmaning f\uf6r specialistutbildningar f\uf6r sjuksk\uf6terskor

The aim of this article is to discuss challenges in the development of Specialist Nursing Educations as a result of the 2007 Swedish Higher EducationReform: the implementation of the so-called Bologna process. Certain challenges follow this reform, particularly since the specialist nursingprogrammes will be part of the second cycle of the higher education system, and it will be possible to combine the professional degree witha masters degree (one year). Possible strategies in four areas related to the Specialist Nursing Education are discussed: integration of researchbasedknowledge, experienced-based knowledge, improvement knowledge, and strategies for collaboration between university institutions andclinics. Specific didactical issues are raised