1.
Genetic risk-factors for anxiety in healthy individuals: polymorphisms in genes important for the HPA axis.
Lindholm, H, Morrison, I, Krettek, A, Malm, D, Novembre, G, Handlin, L
BMC medical genetics. 2020;21(1):184
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Anxiety is a complex disorder that involves alterations in hormones secreted from glands in the brain. Genetic variations in these hormones can mean that some individuals are more susceptible to anxiety disorders. The aim of this observational study was to investigate possible relationships between genetic changes in brain hormones and anxiety in 72 individuals. The results showed that women were more likely than men to report feelings of anxiety and there were several relationships between genetic variations in brain hormones and self-reported measures of anxiety. It was concluded that genetic variations in brain hormones are associated with anxiety disorders in healthy individuals. This study could be used by healthcare professionals to understand how genetics could play a role in anxiety and that certain genes could be used to identify individuals at risk of anxiety disorders.
Abstract
BACKGROUND Two important aspects for the development of anxiety disorders are genetic predisposition and alterations in the hypothalamic-pituitary-adrenal (HPA) axis. In order to identify genetic risk-factors for anxiety, the aim of this exploratory study was to investigate possible relationships between genetic polymorphisms in genes important for the regulation and activity of the HPA axis and self-assessed anxiety in healthy individuals. METHODS DNA from 72 healthy participants, 37 women and 35 men, were included in the analyses. Their DNA was extracted and analysed for the following Single Nucleotide Polymorphisms (SNP)s: rs41423247 in the NR3C1 gene, rs1360780 in the FKBP5 gene, rs53576 in the OXTR gene, 5-HTTLPR in SLC6A4 gene and rs6295 in the HTR1A gene. Self-assessed anxiety was measured by the State and Trait Anxiety Inventory (STAI) questionnaire. RESULTS Self-assessed measure of both STAI-S and STAI-T were significantly higher in female than in male participants (p = 0.030 and p = 0.036, respectively). For SNP rs41423247 in the NR3C1 gene, there was a significant difference in females in the score for STAI-S, where carriers of the G allele had higher scores compared to the females that were homozygous for the C allele (p < 0.01). For the SNP rs53576 in the OXTR gene, there was a significant difference in males, where carriers of the A allele had higher scores in STAI-T compared to the males that were homozygous for the G allele (p < 0.01). CONCLUSION This study shows that SNP rs41423247 in the NR3C1 gene and SNP rs53576 in the OXTR gene are associated with self-assessed anxiety in healthy individuals in a gender-specific manner. This suggests that these SNP candidates are possible genetic risk-factors for anxiety.
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A scoping review and mapping exercise comparing the content of patient-reported outcome measures (PROMs) across heart disease-specific scales.
Algurén, B, Coenen, M, Malm, D, Fridlund, B, Mårtensson, J, Årestedt, K, ,
Journal of patient-reported outcomes. 2020;(1):7
Abstract
BACKGROUND Over the past decade, the importance of person-centered care has led to increased interest in patient-reported outcome measures (PROMs). In cardiovascular care, selecting an appropriate PROM for clinical use or research is challenging because multimorbidity is often common in patients. The aim was therefore to provide an overview of heart-disease specific PROMs and to compare the content of those outcomes using a bio-psycho-social framework of health. METHODS A scoping review of heart disease-specific PROMs, including arrhythmia/atrial fibrillation, congenital heart disease, heart failure, ischemic heart disease, and valve diseases was conducted in PubMed (January 2018). All items contained in the disease-specific PROMs were mapped to WHO's International Classification of Functioning, Disability and Health (ICF) according to standardized linking rules. RESULTS A total of 34 PROMs (heart diseases in general n = 5; cardiac arrhythmia n = 6; heart failure n = 14; ischemic heart disease n = 9) and 147 ICF categories were identified. ICF categories covered Body functions (n = 61), Activities & Participation (n = 69), and Environmental factors (n = 17). Most items were about experienced problems of Body functions and less often about patients' daily activities, and most PROMs were specifically developed for heart failure and no PROM were identified for valve disease or congenital heart disease. CONCLUSIONS Our results motivate and provide information to develop comprehensive PROMs that consider activity and participation by patients with various types of heart disease.
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Cardiac disease and its consequences on the partner relationship: a systematic review.
Dalteg, T, Benzein, E, Fridlund, B, Malm, D
European journal of cardiovascular nursing. 2011;(3):140-9
Abstract
INTRODUCTION Cardiac disease is a chronic illness that has extensive impact on patients and their partners. No previous review has been made on how the partner relationship is affected following cardiac disease. The review limited itself to the main cardiac disease of myocardial ischemia, arrhythmia and heart failure. AIM: The aim of this review was to identify how the partner relationship is affected following cardiac disease after hospital discharge. METHOD CINAHL, PubMed and PsycINFO were searched from 1999 to 2009. Quality assessment of included articles was made using the Joanna Briggs Institute Reviewers' Manual. A total of 20 articles were included. RESULTS Five themes identified how the partner relationship is affected following cardiac disease, namely: overprotection, communication deficiency, sexual concerns, changes in domestic roles, and adjustment to illness. Patients reported feeling overprotected by their spouses which occasionally served as a fertile ground for arguments or conflicts. Most couples experienced some implications concerning their sexual life following cardiac disease, though in various degrees. Both patients and partners seemed to experience communication deficiency concerning emotions within their relationship following the event. Most couples experienced a shift in roles and responsibilities within their partner relationship. Even though most couples experienced great distress following being afflicted with cardiac disease they reported that the disease had brought them closer together. CONCLUSION The review found that though couples found the cardiac event distressful they conformed and adjusted their relationship to the new situation.