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Background: Within Europe many guidelines exist regarding the genetic testing of minors. Predictive and presymptomatic genetic testing of minors is recommended for disorders for which medical intervention/preventive measures exist, and for which early detection improves future medical health. Aim: This study, which is part of the larger 5th EU-framework "genetic education'' (GenEd) study, aimed to
Impaired autonomic control of postural homeostasis results in orthostatic intolerance. However, the role of neurohormones in orthostatic intolerance has not been explained.
Cancer incidence is increasing and it is the number one cause of death worldwide. Cancer is a highly heterogeneous disease and there is a great need for new early diagnostic, prognostic and treatment predictive biomarkers in order to improve patient outcomes. The RNA-binding motif protein 3, RBM3, is an emerging candidate biomarker of favourable prognosis and treatment response in several types of
Objective: Occupational workload has been associated with an increased risk of osteoarthritis. The objective was to further examine the association between workload and occurrence of osteoarthritis and in particular to study whether heavy workload has similar importance as a causative factor for osteoarthritis of the hip and knee. Methods: In a cohort study, the authors investigated the incidence
BACKGROUND: It is not known why survival differs between men and women in oxygen-dependent chronic obstructive pulmonary disease (COPD). The present study evaluates differences in comorbidity between men and women, and tests the hypothesis that comorbidity contributes to sex-related differences in mortality in oxygen-dependent COPD. METHODS: National prospective study of patients aged 50 years or
To examine the validity of the Recent Physical Activity Questionnaire (RPAQ) which assesses physical activity (PA) in 4 domains (leisure, work, commuting, home) during past month.
A recent population-based, longitudinal study from Finland observed a dose-response association between smoking during pregnancy (SDP) and use of psychotropic medications in exposed children and young adults. However, this association may be confounded by unmeasured familial characteristics related to both SDP and offspring mental health. Consequently, we aim to investigate the effect of SDP by me
The aims of this thesis were to identify microRNAs (miRNAs) with prostate cancer prognostic and diagnostic potential, to discover miRNAs with therapeutic capacity against prostate cancer, and to investigate if prostate specific antigen (PSA) is miRNA regulated. Prostate cancer is a globally spread disease with low mortality, but some patients develop an aggressive lethal form of prostate cancer w
Invasive candidiasis (IC) is a serious condition and timely diagnosis with early initiation of antifungal therapy is imerative for improving outcomes. Arabinitol is a sugar alcohol with two stereoisomers, D-arabinitol (DA) and L-arabintiol (LA). Several pathogenic Candida species produce DA in vitro and high DA levels have been detected in serum and urine in patients with IC. Renal dysfunction aff
Background and aim Genetic factors play a role in susceptibility to subarachnoid haemorrhage, but little is known about which genes are involved. Recently, genome wide association studies have identified the 9p21 region as a risk locus for intracranial aneurysms (IA). The aim of the present study was to examine the possible association between 9p21 and ruptured IA-that is, aneurysmal subarachnoid
Written submissions or comments as a response on an EIS (Environmental Impact Statement) rank as one of the most common forms of public participation. Within public participation research there appears to be an international dearth of knowledge concerning such written submissions. The possible impact of such responses on an EIS is - with few exceptions - seldom put in focus. The aim in the present
Background: When compared to the other mismatch repair genes involved in Lynch syndrome, the identification of mutations within PMS2 has been limited (<2% of all identified mutations), yet the immunohistochemical analysis of tumour samples indicates that approximately 5% of Lynch syndrome cases are caused by PMS2. This disparity is primarily due to complications in the study of this gene caused by
In what way can an artisanal perspective and artisanal knowledge contribute to current archaeology? How can theories about skill and expertise explain and affect research on artisanal issues? These are the questions that are in focus and have been explored in the four collected papers and in the concluding article in this thesis. The author proposes an artisanal perspective from an interdisciplina
Background In patients with symptoms compatible with acute myocardial infarction (MI), early triage by ECG in the pre-hospital phase by ST-segment elevation myocardial infarction (STEMI) criteria is important for direct transport of these patients to a regional center for primary percutaneous coronary intervention (pPCI). The time from first medical contact to pPCI should, due to present guideline
