| 1. |
- Fava, Cristiano, et al.
(författare)
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Novel mutations in the SLC12A3 gene causing Gitelman's syndrome in Swedes
- 2007
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Ingår i: DNA Sequence. - : Informa UK Limited. - 1029-2365 .- 1042-5179. ; 18:5, s. 395-399
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Tidskriftsartikel (refereegranskat)abstract
- PURPOSE: Gitelman's syndrome (GS) is an inherited autosomal recessive disorder due to loss of function mutations in the SLC12A3 gene encoding the Na-Cl co-transporter (NCCT), the target of thiazide diuretics. The defective function of the NCCT, which normally is expressed in the apical membrane of the distal convolute tubule in the kidney, leads to mild hypotension, hypokalemia, hyperreninemic hyperaldosteronism, mild metabolic alkalosis, hypomagnesemia and hypocalciuria. Up to now, more than 100 mutations of the SLC12A3 gene have been described in GS patients. METHODS: We have collected 30 patients from Sweden with a clinical diagnosis of GS and undertaken a mutation screening by SSCP and successive sequencing of the 26 exons and intronic boundaries. Both mutations were identified in most (n = 28, 93%) and at least one mutation was identified in all patients. RESULTS: We found 22 different mutations evenly distributed throughout the gene, 11 of which have not been described previously. The new variants include 8 missense mutations (Glu68Lys, His69Asn, Argl45His, Vall53Met, Gly230Asp, Gly342Ala, Val677Leu and Gly867Ser), 1 insertion (c.834_835insG on exon 6) and 2 splice-site mutations (c.2667 + lT>G substitution in splicing donor site after exon 22, c.1569-1G>A substitution in the splicing acceptor site before exon 13). CONCLUSION: In Swedish patients with the clinical features of GS, disease-causing mutations in the SLC12A3 gene were identified in most patients. The spectrum of GS mutations is wide making full mutation screening of the SLC12A3 gene necessary to confirm the diagnosis.
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| 2. |
- Melin, Eva, et al.
(författare)
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Depression, smoking, physical inactivity and season independently associated with midnight salivary cortisol in type 1 diabetes
- 2014
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Ingår i: BMC Endocrine Disorders. - : BioMed Central (BMC). - 1472-6823. ; 14, s. 1-10
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Tidskriftsartikel (refereegranskat)abstract
- Background: Disturbances of the circadian rhythm of cortisol secretion are associated with depression, coronary calcification, and higher all-cause and cardiovascular mortality. The primary aim of this study was to test the associations between midnight salivary cortisol (MSC), depression and HbA1c, and control for behavioural, environmental and intra individual factors with possible impact on cortisol secretion, like smoking, physical inactivity, season, medication, diabetes duration, severe hypoglycemia episodes, age and gender in patients with type 1 diabetes. Secondary aims were to present MSC levels for a reference group of non-depressed type 1 diabetes patients with a healthy life style (physically active and non-smoking), and to explore seasonal variations. Methods: A cross-sectional population based study of 196 patients (54% men and 46% women) aged 18-59 years that participated in a randomized controlled trial targeting depression in type 1 diabetes. Depression was assessed by the Hospital Anxiety and Depression Scale-depression subscale. MSC, HbA1c, serum-lipids, blood pressure, waist circumference and data from medical records and the Swedish National Diabetes Registry were collected. Results: Thirty four patients (17%) had MSC >= 9.3 nmol/L, which was associated with smoking (AOR 5.5), spring season (AOR 4.3), physical inactivity (AOR 3.9), self-reported depression (AOR 3.1), and older age (per year) (AOR 1.08). HbA1c > 70 mmol/mol (>8.6%) (AOR 4.2) and MSC >= 9.3 nmol/L (AOR 4.4) were independently linked to self-reported depression. Season was strongly associated with MSC levels and no other variables studied showed seasonal variations. In a reference group of 137 non-depressed patients with a healthy life style (physically active, non-smoking) the median MSC level was 4.6 nmol/L (range 1.9-23.0). Conclusions: In this study of patients with type 1 diabetes high MSC was linked to smoking, physical inactivity, depression, season and older age. Thus a high cortisol value identified three major targets for treatment in type 1 diabetes.
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| 3. |
- Bendix, Marie, et al.
(författare)
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Insulin and glucagon in plasma and cerebrospinal fluid in suicide attempters and healthy controls
- 2017
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Ingår i: Psychoneuroendocrinology. - : Elsevier. - 0306-4530 .- 1873-3360. ; 81, s. 1-7
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Tidskriftsartikel (refereegranskat)abstract
- Mental disorders and related behaviors such as suicidality and violence have been associated to dysregulation of e g carbohydrate metabolism. We hypothesized that patients after suicide attempt, compared to healthy controls, would have higher insulin and lower glucagon levels in plasma and cerebrospinal fluid and that these changes would be associated to violent behavior. Twenty-eight medication-free patients (10 women, 18 men), hospitalized after suicide attempt, and 19 healthy controls (7 women, 12 men) were recruited with the aim to study risk factors for suicidal behavior. Psychological/psychiatric assessment was performed with SCID I and II or the SCID interview for healthy volunteers respectively, the Karolinska Interpersonal Violence Scale (KIVS) for assessment of lifetime violence expression behavior, the Montgomery-Asberg-Depression-Scale (MADRS) and the Comprehensive Psychological Rating Scale (CPRS) for symptomatic assessment of depression and appetite. Fasting levels of insulin and glucagon were measured in plasma (P) and cerebrospinal fluid (CSF). Suicide attempters had higher insulin- and lower glucagon-levels in plasma- and CSF compared to controls. Except for P-glucagon these associations remained significant after adjusting for age and/or BMI. Patients reported significantly more expressed interpersonal violence compared to healthy volunteers. Expressed violence was significantly positively correlated with P- and CSF-insulin and showed a significant negative correlation with P-glucagon in study participants. These findings confirm and extend prior reports that higher insulin and lower glucagon levels in plasma and cerebrospinal fluid are associated with suicidal behavior pointing towards a potential autonomic dysregulation in the control of insulin and glucagon secretion in suicidal patients.
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| 4. |
- Hector, Sven, et al.
(författare)
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Plasma matrix metalloproteinases and tissue inhibitors of metalloproteinases explored in relation to the severity and progression of diabetic retinopathy in patients with type 1 diabetes : baseline and prospective analyses
- 2024
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Ingår i: BMJ Open Ophthalmology. - : BMJ Publishing Group Ltd. - 2397-3269. ; 9:1, s. 1-10
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Tidskriftsartikel (refereegranskat)abstract
- Aims To explore whether circulating matrix metalloproteinase-2 (MMP-2), MMP-9, MMP-9/neutrophil gelatinase-associated lipocalin, MMP-9/tissue inhibitor of metalloproteinase-1 (TIMP-1), MMP-14, TIMP-2 and TIMP-3 were associated with the severity and progression of diabetic retinopathy (DR) in patients with type 1 diabetes (T1D). Methods Baseline and prospective analyses were conducted over a period of 10.5 person-years. In 2009, recruitment and biochemical analyses (MMPs, TIMPs, glycated haemoglobin (HbA1c), serum creatinine, macroalbuminuria) were performed. Fundus photography, performed at baseline and at follow-up in accordance with the regional screening programme, was compared after being categorised according to the International Clinical Diabetic Retinopathy Disease Severity Scale. 'DR progression at least one leve' was calculated. High MMP-2 was defined as >= 178 ng/mL (>= 75th percentile) and high TIMP-2 as >= 205 ng/mL (>= 75th percentile). DR was dichotomised as 'at least moderate DR' or 'no/mild DR'. Results The study included 267 participants, 57% of whom were men. At baseline, the prevalence of high MMP-2 (p=0.001) and high TIMP-2 (p=0.008) increased with the severity of DR. 'At least moderate DR' (adjusted OR (AOR) 2.4, p=0.008) and macroalbuminuria (AOR 3.6, p=0.025) were independently associated with high MMP-2. 'At least moderate DR' (AOR 2.3, p=0.009) and macroalbuminuria (3.4, p=0.031) were independently associated with high TIMP-2. DR progression occurred in 101 (46%) patients (p<0.001). HbA1c >= 53 mmol/mol was associated with the progression of DR (crude OR 3.8, p=0.001). No other MMPs or TIMPs were linked to the severity or the progression of DR. Conclusions High levels of MMP-2 and TIMP-2 indicated more severe DR or diabetic nephropathy. Only HbA1c was associated with the progression of DR in 267 patients with T1D.
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| 5. |
- Hector, Sven, et al.
(författare)
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Soluble CD163 and glycated haemoglobin were independently associated with the progression of diabetic retinopathy in adult patients with type 1 diabetes
- 2023
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Ingår i: BMJ Open Ophthalmology. - : BMJ Publishing Group Ltd. - 2397-3269. ; 8:1
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Tidskriftsartikel (refereegranskat)abstract
- ObjectiveHigh vitreous levels of soluble (s)CD163 have been demonstrated in severe diabetic retinopathy (DR). The aim of this study was to explore the predictive values of plasma sCD163 and glycated haemoglobin (HbA1c) for DR progression in adults with type 1 diabetes. Methods and analysesThe study design was prospective. Fundus photography performed in 2009 and at follow-up (& LE;12 years later) were compared after being categorised according to the International Clinical Diabetic Retinopathy Disease Severity Scale. 'DR progression at least one level' was calculated. In 2009, data collection (sex, age, diabetes duration, metabolic variables, serum creatinine, macroalbuminuria and lifestyle factors) and biochemical analyses were performed. Plasma sCD163 and HbA1c were divided into quartiles. Logistic regression analyses were performed. ResultsThe prevalence of DR in 2009 versus at follow-up in 270 participants (57% male) were: no apparent 28% vs 18%; mild 20% vs 13%; moderate 24% vs 26%; severe 11% vs 13%; and proliferative DR 17% vs 30% (p<0.001). DR progression occurred in 101 (45%) patients. HbA1c & GE;54 mmol/mol (& GE;7.1%) (>1st quartile) (adjusted odds ratio (AOR) 3.8, p<0.001) and sCD163 & GE;343 ng/mL (>1st quartile) (AOR 2.6, p=0.004) were independently associated with DR progression. The associations with DR progression increased significantly from the first to the fourth quartile for HbA1c (AORs: 1; 2.5; 3.6; 7.4), but not for sCD163 (AORs: 1; 2.9; 2.4; 2.4). ConclusionPlasma sCD163 may constitute a valuable biomarker for DR progression in addition to and independent of the well-established biomarker HbA1c.
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| 6. |
- Hultsjö, Sally, et al.
(författare)
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Community health-care staff's experiences of support to prevent type 2 diabetes among people with psychosis : an interview study with health staff
- 2012
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Ingår i: International Journal of Mental Health Nursing. - Hoboken, NJ, USA : Wiley-Blackwell. - 1445-8330 .- 1447-0349. ; 21:5, s. 480-489
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Tidskriftsartikel (refereegranskat)abstract
- The aim of the study was to describe mental health staff experiences of giving support to prevent type 2 diabetes mellitus (DM) among people with psychosis in community psychiatry. A qualitative interview study with a purposeful sample of 12 community health staff was conducted. Data were analysed using qualitative content analysis. The results show how staff reported continuously supporting people with psychosis to adapt to healthy lifestyles, but stated that support is not given until after a person becomes overweight or is diagnosed with type 2 DM. Support was described as a never-ending process of motivation facing many reverses. Individually-adapted support given in practical situations was perceived as most successful. Cooperation between health-care organizations was seen as essential, but inadequate. Limitations in income and social network, and easy access to fast food and alcohol, were seen as obstacles to support. The results indicate that community health staff are in a position to make a considerable impact in motivating and supporting healthy lifestyle changes in practical situations in daily life among people with psychosis. This study raises awareness of how community health staff's support can be useful when developing nursing skills and health-care plans for people with psychosis.
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| 7. |
- Hultsjö, Sally, et al.
(författare)
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Organizing care for persons with psychotic disorders and risk of or existing diabetes mellitus type 2
- 2012
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Ingår i: Journal of Psychiatric and Mental Health Nursing. - : Wiley. - 1351-0126 .- 1365-2850. ; 19:10, s. 891-902
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Tidskriftsartikel (refereegranskat)abstract
- This literature review aimed to explore previous knowledge about specific care requirements for persons with psychotic disorders and risk of or existing type 2 diabetes.Methods: qualitative and quantitative studies in the area were identified and reviewed. Results: It were indicated that mental health nurses play an important role in motivating people to perform diabetes care as they are often known to and trusted by the patients. A holistic approach to the person's health, with close follow-ups by psychiatric care and cooperation with diabetes care, may have benefits for the person with diabetes. Screening for and treating psychotic symptoms is an important task for the mental health nurse, as these symptoms drain energy from the person and prevent diabetes self-care. Lifestyle and diabetes education needs to be practical, adapted to the individual and focused on maintaining a healthy diet, regular exercise, changing smoking habits and preventing diabetes complications. Treatment with antipsychotic drugs increases the need for follow-ups of glycaemic control.
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| 8. |
- Kristiansen, Eva, et al.
(författare)
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Assessing heart rate variability in type 1 diabetes mellitus - Psychosocial stress a possible confounder
- 2020
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Ingår i: Annals of Noninvasive Electrocardiology. - : John Wiley & Sons. - 1082-720X .- 1542-474X. ; 25:5, s. 1-12
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Tidskriftsartikel (refereegranskat)abstract
- Background Autonomic neuropathy (AN) commonly arises as a long-term complication in diabetes mellitus and can be diagnosed from heart rate variability (HRV), calculated from electrocardiogram recordings. Psychosocial stress also affects HRV and could be one of several confounders for cardiac AN. The present work investigated the impact of psychosocial stress on HRV in individuals with type 1 diabetes mellitus (T1DM) and assessed the use of salivary cortisol as a biomarker for psychosocial stress in this context. Methods A total of 167 individuals 6-60 years old (113 with T1DM and 54 healthy controls) underwent 24-hr ECG recordings with HRV analysis. Salivary cortisol was sampled thrice during the registration day. Perceived psychosocial stress along with other factors of possible importance for the interpretation of HRV was documented in a diary. Results Heart rate variability (high-frequency power during sleep) was reduced (p < .05) with older age, longer diabetes duration, higher mean glucose levels, physical inactivity, and perceived psychosocial stress. Salivary cortisol levels in the evening were increased (p < .05) in women in ovulation phase, in individuals with preceding hypoglycemia or with hyperglycemia. The amplitude of salivary cortisol was reduced (p < .05) with the presence of perceived psychosocial stress, but only in adult healthy controls, not in individuals with diabetes. Conclusion Psychosocial stress might be a confounder for reduced HRV when diagnosing cardiac AN in T1DM. Salivary cortisol is, however, not a useful biomarker for psychosocial stress in diabetes since the physiological stress of both hypoglycemia and hyperglycemia seems to overrule the effect of psychosocial stress on cortisol.
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| 9. |
- Melin, Eva O., et al.
(författare)
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Depression differed by midnight cortisol secretion, alexithymia and anxiety between diabetes types : a cross sectional comparison
- 2017
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Ingår i: BMC Psychiatry. - : BioMed Central. - 1471-244X. ; 17, s. 1-10
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Tidskriftsartikel (refereegranskat)abstract
- Background: Increased prevalence of depression is found in both type 2 diabetes (T2D) and type 1 diabetes (T1D). Melancholia and atypical depression differ by cortisol secretion and clinical features. The aim was to compare the clinical presentation of T1D and T2D patients in relation to self-reported depression, self-reported anxiety, alexithymia, obesity, and midnight salivary cortisol (MSC). Methods: Comparative cross-sectional design. The participants were consecutively recruited from one hospital diabetes outpatient clinic: 24 T2D patients (31-59 years) and 148 T1D patients (32-59 years). Self-reported depression, anxiety and alexithymia were assessed by Hospital Anxiety and Depression scale and Toronto Alexithymia Scale-20. MSC, HbA1c, anthropometrics and data from medical records were collected. Multiple logistic regression analyses were performed. Results: Comparisons of prevalence between diabetes types showed for T2D/T1D: depression 25%/12% (P = 0.10); high MSC (>= 9.3 nmol/L) 38%/22% (P = 0.13); alexithymia 25%/13% (P = 0.12); anxiety 38%/35% (P = 0.82). The prevalence of high MSC did not differ between depressed and non-depressed T2D patients (17% vs. 44%, P = 0.35), but differed between depressed and non-depressed T1D patients (53% vs. 18%, P = 0.003). The alexithymia prevalence differed between depressed and non-depressed T2D patients (67% vs. 11%, P = 0.018), and between depressed and non-depressed T1D patients (47% vs. 11%, P < 0.001). The anxiety prevalence did not differ between depressed and non-depressed T2D patients (67% vs. 28%, P = 0.15), but differed between depressed and non-depressed T1D patients (76% vs. 30%, P < 0.001). The obesity prevalence (BMI >= 30 kg/m(2)) was 83% for depressed T2D patients and 6% for depressed T1D patients. In the T2D patients, depression was associated with alexithymia (Adjusted odds ratio (AOR) 15.0). In the T1D patients, depression was associated with anxiety (AOR 11.0), foot complications (AOR 8.5), HbA1C > 70 mmol/mol (AOR 6.4), and high MSC (>= 9.3 nmol/L) (AOR 4.8). Conclusions: The depressed T2D patients had traits of atypical depression, without associated high MSC (>= 9.3 nmol/L) and anxiety, but the association with alexithymia was strong. The depressed T1D patients had traits of melancholia with associated high MSC and anxiety. The obesity prevalence was high in depressed T2D patients and low in depressed T1D patients.
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| 10. |
- Melin, Eva O., et al.
(författare)
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Depression was associated with younger age, female sex, obesity, smoking, and physical inactivity, in 1027 patients with newly diagnosed type 2 diabetes : a Swedish multicentre cross-sectional study
- 2022
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Ingår i: BMC Endocrine Disorders. - : BioMed Central (BMC). - 1472-6823. ; 22:1
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Tidskriftsartikel (refereegranskat)abstract
- Background Depression is a risk factor for type 2 diabetes (T2D) and cardiovascular disease (CVD). The aims were to explore the prevalence of depression, anxiety, antidepressant use, obesity, Hemoglobin A1c > 64 mmol/mol, life-style factors, pre-existing CVD, in patients with newly diagnosed T2D; to explore associations with depression; and to compare with Swedish general population data. Methods Multicentre, cross-sectional study. Inclusion criteria: adults with serologically verified newly diagnosed T2D. Included variables: age, sex, current depression and anxiety (Hospital Anxiety and Depression Scale), previous depression, antidepressant use, obesity (BMI >= 30 and >= 40 kg/m(2)), Hemoglobin A1c, pre-existing CVD. Logistic regression analyses were performed. Results In 1027 T2D patients, aged 18-94 years, depression was associated with age (per year) (inversely) (odds ratio (OR) 0.97), anxiety (OR 12.2), previous depression (OR 7.1), antidepressant use (OR 4.2), BMI >= 30 kg/m(2) (OR 1.7), BMI >= 40 kg/m(2) (OR 2.3), smoking (OR 1.9), physical inactivity (OR 1.8), and women (OR 1.6) (all p <= 0.013). Younger women (n = 113), <= 59 years, compared to younger men (n = 217) had higher prevalence of current depression (31% vs 12%), previous depression (43 vs 19%), anxiety (42% vs 25%), antidepressant use (37% vs 12%), BMI >= 30 kg/m(2) (73% vs 60%) and BMI >= 40 kg/m(2)) (18% vs 9%), and smoking (26% vs 16%) (all p <= 0.029). Older women (n = 297), >= 60 years, compared to older men (n = 400) had higher prevalence of previous depression (45% vs 12%), anxiety (18% vs 10%), antidepressant use (20% vs 8%), BMI >= 30 kg/m(2) (55% vs 47%), BMI >= 40 kg/m(2) (7% vs 3%) (all p <= 0.048), but not of current depression (both 9%). Compared to the Swedish general population (depression (women 11.2%, men 12.3%) and antidepressant use (women 9.8%, men 5.3%)), the younger women had higher prevalence of current depression, and all patients had higher prevalence of antidepressant use. Conclusions In patients with newly diagnosed T2D, the younger women had the highest prevalence of depression, anxiety, and obesity. The prevalence of depression in young women and antidepressant use in all patients were higher than in the Swedish general population. Three risk factors for CVD, obesity, smoking, and physical inactivity, were associated with depression.
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