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- Eriksson, D, et al.
(författare)
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Extended exome sequencing identifies BACH2 as a novel major risk locus for Addison's disease
- 2016
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Ingår i: Journal of Internal Medicine. - : Wiley. - 0954-6820 .- 1365-2796. ; 286:6, s. 595-608
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Autoimmune disease is one of the leading causes of morbidity and mortality worldwide. In Addison's disease, the adrenal glands are targeted by destructive autoimmunity. Despite being the most common cause of primary adrenal failure, little is known about its aetiology.METHODS: To understand the genetic background of Addison's disease, we utilized the extensively characterized patients of the Swedish Addison Registry. We developed an extended exome capture array comprising a selected set of 1853 genes and their potential regulatory elements, for the purpose of sequencing 479 patients with Addison's disease and 1394 controls.RESULTS: We identified BACH2 (rs62408233-A, OR = 2.01 (1.71-2.37), P = 1.66 × 10(-15) , MAF 0.46/0.29 in cases/controls) as a novel gene associated with Addison's disease development. We also confirmed the previously known associations with the HLA complex.CONCLUSION: Whilst BACH2 has been previously reported to associate with organ-specific autoimmune diseases co-inherited with Addison's disease, we have identified BACH2 as a major risk locus in Addison's disease, independent of concomitant autoimmune diseases. Our results may enable future research towards preventive disease treatment.
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| 4. |
- Virta, J, et al.
(författare)
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Impact of metabolic substrate modification on myocardial efficiency in a rat model of obesity and diabetes
- 2022
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Ingår i: European Heart Journal, Supplement. - : Oxford University Press (OUP). - 1520-765X .- 0195-668X .- 1522-9645. ; 43:2, s. 3076-3076
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Konferensbidrag (refereegranskat)abstract
- BackgroundCongenic leptin receptor deficient rat generated by introgression of the Koletsky leptin receptor mutation into BioBreeding Diabetes Resistant rat (BBDR.lepr−/−) is a novel animal model combining obesity, systemic insulin resistance and diabetes. Systemic insulin resistance is associated with reduced myocardial glucose utilization, but its effect on myocardial external efficiency, i.e. the ability of the myocardium to convert energy into external stroke work, remains uncertain.PurposeTo characterize cardiac energy metabolism and function in BBDR.lepr−/− rats and to study the effect of dipeptidyl peptidase 4 (DPP-4) inhibitor linagliptin in this model.MethodsCardiac phenotype was evaluated in six-month-old male BBDR.lepr−/− rats (n=11) and age-matched male non-diabetic lean control littermates (BBDR.lepr+/− or BBDR.lepr+/+ rats, n=14). Of these, 7 BBDR.lepr−/− rats and 6 controls underwent cardiac ultrasound, 2-deoxy-2-[18F]fluoro-D-glucose ([18F]FDG) positron emission tomography/computed tomography (PET/CT), and [11C]acetate PET in order to evaluate cardiac structure and function as well as glucose and oxidative metabolism. In the remaining rats, fatty acid metabolism was evaluated by [18F]fluorothia-6-heptadecanoic acid ([18F]FTHA) PET/CT. In the linagliptin intervention study, 25 BBDR.lepr−/− male rats were randomly divided into control group (n=11) that received regular chow diet and linagliptin group (n=14) that received linagliptin (10mg/kg/d) mixed in the chow diet for three months. After the intervention, the rats underwent cardiac ultrasound, [18F]FDG PET/CT, and [11C]acetate PET.ResultsCompared with controls, BBDR.lepr−/− rats showed increased left ventricle (LV) mass (∼40%, p>0.001) and higher systolic blood pressure (∼10%, p=0.02). However, fractional shortening and cardiac output were similar in both groups. Myocardial fractional uptake rate of glucose measured with [18F]FDG PET was significantly reduced (∼86%, p=0.004) (Fig. 1A, E), whereas myocardial fatty acid uptake measured by [18F]FTHA PET was not significantly increased (free fatty acid (FFA) corrected standardized uptake value (SUV) ∼21%, p=0.54) (Fig. 1B) in BBDR.lepr−/− compared to controls. Myocardial oxygen consumption assessed by [11C]acetate PET was similar in both groups (Fig. 1C, E), but LV work per gram of myocardium was reduced (∼28%, p=0.001) resulting in reduced myocardial external efficiency (∼21%, p=0.03) (Fig. 1D) in BBDR.lepr−/− compared to controls. Treatment with linagliptin significantly enhanced myocardial fractional uptake rate of glucose (∼166%, p=0.006) (Fig. 2A, C), but had no effect on efficiency of cardiac work (Fig. 2B).ConclusionsObese and diabetic BBDR.lepr−/− rats demonstrate LV hypertrophy and markedly reduced myocardial glucose utilization associated with impaired myocardial external efficiency despite normal LV systolic function. Enhancement of myocardial glucose uptake by linagliptin did not improve efficiency of cardiac work.Funding AcknowledgementType of funding sources: Public grant(s) – EU funding. Main funding source(s): IMI-SUMMIT
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- Visser, E.K., et al.
(författare)
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Does Horse Temperament Influence Horse-Rider Cooperation?
- 2008
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Ingår i: Journal of Applied Animal Welfare Science. - : Informa UK Limited. - 1088-8705 .- 1532-7604. ; 11:3, s. 267-284
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Tidskriftsartikel (refereegranskat)abstract
- Cooperation between rider and horse is of major importance in equitation. A balanced team of horse and rider improves (sport) performances and welfare aspects by decreasing stress, frustration, risks of injuries, and accidents. Important features affecting the cooperation are the physical skills, knowledge, and personality of the rider on one hand and the temperament, experience, and physical abilities of the horse on the other. A study with 16 riders and 16 warm-blood riding horses tested the effect of personality of riders and temperament of horses on cooperation between riders and horses. More emotionally reactive horses showed more evasive behavior during riding. Riders preferred to ride those horses who were assessed by the riders as being attentive to the rider's aid. The frequency of evasive behaviors during riding - as assessed by riders, in contrast to the assessments made by an external judge - influenced the cooperation between rider and horse. On average, a rider's personality did not affect the cooperation between rider and horse; however, it is suggested that a rider's personality does affect the cooperation with more emotionally reactive horses.
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- Zetterqvist, Maria, 1970-, et al.
(författare)
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Validation of the Systemic Clinical Outcome and Routine Evaluation (SCORE-15) self-report questionnaire: index of family functioning and change in Swedish families
- 2020
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Ingår i: Journal of Family Therapy. - : WILEY. - 0163-4445 .- 1467-6427. ; 42:1, s. 129-148
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Tidskriftsartikel (refereegranskat)abstract
- Instruments for evaluating the progress and outcome of systemic therapeutic treatments in clinical practice need to be easily administered and have sound psychometric properties. The Systemic Clinical Outcome and Routine Evaluation, 15-item version (SCORE-15), is a self-report instrument that measures aspects of family functioning. This study investigates the psychometric qualities of a Swedish version of SCORE-15. Seventy Swedish families with healthy children and 159 families with children with psychiatric or behavioural problems were included in the study, resulting in a total of 397 individuals. Results showed that SCORE-15 differentiated clinical from non-clinical families with acceptable psychometric properties for test-retest, internal consistency, convergent and construct validity, as well as sensitivity to change for the clinical sample. The three-factor solution of strengths, difficulties and communication was tested. Results imply preliminary psychometric support for the use of the Swedish version of SCORE-15 to evaluate progress and outcome in clinical practice. Practitioner points SCORE-15 is an easily administered questionnaire suitable for use in clinical practice to evaluate systemic therapeutic progress and outcome The Swedish version of SCORE-15 has acceptable psychometric properties
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