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- de Jong, S, et al.
(författare)
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Applying polygenic risk scoring for psychiatric disorders to a large family with bipolar disorder and major depressive disorder
- 2018
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Ingår i: Communications biology. - : Springer Science and Business Media LLC. - 2399-3642. ; 1, s. 163-
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Tidskriftsartikel (refereegranskat)abstract
- Psychiatric disorders are thought to have a complex genetic pathology consisting of interplay of common and rare variation. Traditionally, pedigrees are used to shed light on the latter only, while here we discuss the application of polygenic risk scores to also highlight patterns of common genetic risk. We analyze polygenic risk scores for psychiatric disorders in a large pedigree (n ~ 260) in which 30% of family members suffer from major depressive disorder or bipolar disorder. Studying patterns of assortative mating and anticipation, it appears increased polygenic risk is contributed by affected individuals who married into the family, resulting in an increasing genetic risk over generations. This may explain the observation of anticipation in mood disorders, whereby onset is earlier and the severity increases over the generations of a family. Joint analyses of rare and common variation may be a powerful way to understand the familial genetics of psychiatric disorders.
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- Hamilton-Craig, C, et al.
(författare)
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Stress perfusion cardiovascular magnetic resonance imaging: a guide for the general cardiologist
- 2023
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Ingår i: Heart (British Cardiac Society). - : BMJ. - 1468-201X .- 1355-6037. ; 109:6, s. 428-433
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Tidskriftsartikel (refereegranskat)abstract
- Stress cardiovascular magnetic resonance (CMR) is an emerging non-invasive imaging technique for the assessment of known or suspected ischaemic heart disease (IHD). Stress CMR provides information on myocardial perfusion, wall motion, ventricular dimensions and volumes, as well as late gadolinium enhancement (LGE) scar imaging in a single test without ionising radiation. Data from numerous multicentre randomised studies show high diagnostic and prognostic utility, its efficacy as a gatekeeper to invasive coronary angiography and use for guiding coronary revascularisation decisions. Stress CMR is cost-effective across multiple healthcare settings, yet its uptake and usage varies worldwide and is an underutilised technology. New developments include rapid acquisition protocols, automated quantification of perfusion and myocardial blood flow, and artificial intelligence-aided automated analysis and reporting. Stress CMR is becoming more accessible and standardised around the globe and is ready for ‘prime time’ use in the non-invasive assessment of patients with suspected IHD.
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