The p22phox C242T gene polymorphism is associated with a reduced risk of angiographically verified coronary artery disease in a high-risk Finnish Caucasian population. The Finnish Cardiovascular Study.

American Heart Journal Vol. 152, Issue 3, pp 538-542, 2006

Natural history of celiac disease-associated antibodies and progression to overt disease in children at increased genetic risk

Background: Celiac disease is a lifelong, gluten-sensitive, autoimmune-mediated chronic enteropathy, tightly associated with risk alleles at the HLA class II genes. Aims: This study was carried out as a part of the population-based Type 1 Diabetes Prediction and Prevention (DIPP) Project. The first aim was to study the natural history of celiac disease-associated antibodies before the diagnosis of celiac disease was made. The second aim was to describe when and in which order celiac disease-associated and type 1 diabetes-associated antibodies appeared in children with genetic risk for both diseases. Subjects and Methods: Antibodies against tissue transglutaminase (TGA) and other celiac disease-associated antibodies were measured in serum samples collected at 3- to 12-month intervals of children at genetic risk for celiac disease who participated in the DIPP project. Celiac disease was confirmed by duodenal biopsy. Type 1 diabetes-associated antibodies were measured in all samples that had been collected. Overt disease was diagnosed according to World Health Organization criteria. Follow-up continued until a diagnosis of type 1 diabetes or until the end of a defined follow-up period. Results: TGA appeared in children at genetic risk for celiac disease only after the first year of life, but anti-gliadin antibodies often emerged significantly earlier, at age 6 months. The data show that spontaneous disappearance of celiac disease-associated antibodies, transient or persisting, is a common phenomenon, at least in prepubertal children. In children with genetic susceptibility to type 1 diabetes and celiac disease, celiac disease-associated antibodies usually develop earlier than the type 1 diabetes-associated antibodies. Conclusions: The transient nature of celiac disease-associated antibodies emphasizes the significance of establishing seropositivity repeatedly in screening detected celiac disease before gastroscopy and duodenal biopsy are considered and emphasized the importance of duodenal biopsy for diagnosing celiac disease.

Intercultural bridges in teenagers' theatrical events : performing self and constructing cultural identity through a creative drama process

The overriding aim of this drama educational case study is to deepen the understanding of meaning making in a creative intercultural youth theatre process and to examine it in the context of the 10th European Children's TheatreEncounter. The research task is to give a theoretical description of some key features of a creative drama process as the basis for theory about meaning makingin physical theatre. The first task is to illuminate the culture-historical connections of the multilayered practice of the EDERED-association. The second taskis to analyse and interpret theatrical meaning making. The ethnographical research site is regarded as a theatrical event. The analysis of the theatrical eventis divided into four segments: cultural contexts, contextual theatricality, theatrical playing and playing culture. These segments are connected with four research questions: What are the cultural contexts of a creative drama process? How can the organisation of the Encounter, genres, aesthetic codes and perception ofcodes be seen to influence the lived experiences of the participants? What are some of the key phases and characteristics in a creative practice? What kind of cultural learning can be interpreted from the performance texts? The interpretative question concerns identity and community (re)construction. How are the categories, `community´ and `child´ constructed in the Encounter culture? In this drama educational case study the research material (transcribed interviews, coded questionnaire answers, participant drawings, videotaped process text and performance texts) are examined in a multi-method analysis in the meta-theoretical framework of Dewey's naturalistic pragmatism. A three-dimensional research interest through a combination of lived experiences, social contexts and cultural-aesthetical practices compared with drama-educational practices required the methodological project of cultural studies. Furthermore, the critical interpretation of cultural texts is divided into three levels of analyses which are called description, structural analysis and theoretical interpretation. Dialogic validity (truthfulness, self-reflexivity and polyvocality) is combined with contextual validity (sensitivity to social context and awareness of historicity) and with deconstructive validity (awareness of the social discourses). My research suggests that itis possible, by means of physical theatre, to construct symbolic worlds where questions about intercultural identity and multilingual community are examined and where provisional answers are constructed in social interaction.

Mitochondrial disease in Southwestern Finland. Population-based molecular genetic and clinical studies

Mitochondria are present in all eukaryotic cells. They enable these cells utilize oxygen in the production of adenosine triphosphate in the oxidative phosphorylation system, the mitochondrial respiratory chain. The concept ‘mitochondrial disease’ conventionally refers to disorders of the respiratory chain that lead to oxidative phosphorylation defect. Mitochondrial disease in humans can present at any age, and practically in any organ system. Mitochondrial disease can be inherited in maternal, autosomal dominant, autosomal recessive, or X-chromosomal fashion. One of the most common molecular etiologies of mitochondrial disease in population is the m.3243A>G mutation in the MT-TL1 gene, encoding mitochondrial tRNALeu(UUR). Clinical evaluation of patients with m.3243A>G has revealed various typical clinical features, such as stroke-like episodes, diabetes mellitus and sensorineural hearing loss. The prevalence and clinical characteristics of mitochondrial disease in population are not well known. This thesis consists of a series of studies, in which the prevalence and characteristics of mitochondrial disease in the adult population of Southwestern Finland were assessed. Mitochondrial haplogroup Uk was associated with increased risk of occipital ischemic stroke among young women. Large-scale mitochondrial DNA deletions and mutations of the POLG1 gene were the most common molecular etiologies of progressive external ophthalmoplegia. Around 1% of diabetes mellitus emerging between the ages 18 – 45 years was associated with the m.3243A>G mutation. Moreover, among these young diabetic patients, mitochondrial haplogroup U was associated with maternal family history of diabetes. These studies demonstrate the usefulness of carefully planned molecular epidemiological investigations in the study of mitochondrial disorders.