| 1. |
- Bachar-Wikstrom, Etty, et al.
(författare)
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Darier disease is associated with heart failure : a cross-sectional case-control and population based study
- 2020
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Ingår i: Scientific Reports. - : Nature Publishing Group. - 2045-2322. ; 10:1
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Tidskriftsartikel (refereegranskat)abstract
- Human data supporting a role for endoplasmic reticulum (ER) stress and calcium dyshomeostasis in heart disease is scarce. Darier disease (DD) is a hereditary skin disease caused by mutations in the ATP2A2 gene encoding the sarcoendoplasmic-reticulum Ca2+ ATPase isoform 2 (SERCA2), which causes calcium dyshomeostasis and ER stress. We hypothesized that DD patients would have an increased risk for common heart disease. We performed a cross-sectional case-control clinical study on 25 DD patients and 25 matched controls; and a population-based cohort study on 935 subjects with DD and matched comparison subjects. Main outcomes and measures were N-terminal pro-brain natriuretic peptide, ECG and heart diagnosis (myocardial infarction, heart failure and arrythmia). DD subjects showed normal clinical heart phenotype including heart failure markers and ECG. The risk for heart failure was 1.59 (1,16-2,19) times elevated in DD subjects, while no major differences were found in myocardial infarcation or arrhythmias. Risk for heart failure when corrected for cardivascular risk factors or alcohol misuse was 1.53 (1.11-2.11) and 1.58 (1,15-2,18) respectively. Notably, heart failure occurred several years earlier in DD patients as compared to controls. We conclude that DD patients show a disease specific increased risk of heart failure which should be taken into account in patient management. The observation also strenghtens the clinical evidence on the important role of SERCA2 in heart failure pathophysiology.
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| 2. |
- Bolhuis, Koen, et al.
(författare)
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Risk of Psychosis Among Individuals Who Have Presented to Hospital With Self-harm : A Prospective Nationwide Register Study in Sweden
- 2024
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Ingår i: Schizophrenia Bulletin. - : Oxford University Press. - 0586-7614 .- 1745-1701.
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND AND HYPOTHESIS: Recent research showed that young people who presented to hospital with self-harm in Finland had a significantly elevated risk of later psychosis. We investigated the prospective relationship between hospital presentation for self-harm and risk of psychosis in an unprecedentedly large national Swedish cohort.STUDY DESIGN: We used inpatient and outpatient healthcare registers to identify all individuals born between 1981 and 1993 who were alive and living in Sweden on their 12th birthday and who presented to hospital one or more times with self-harm. We compared them with a matched cohort, followed up for up to 20 years, and compared the cumulative incidence of psychotic disorders. Furthermore, we examined whether the strength of the relationship between hospital presentation for self-harm and later psychosis changed over time by examining for cohort effects.STUDY RESULTS: In total, 28 908 (2.0%) individuals presented to hospital with self-harm without prior psychosis diagnosis during the follow-up. For individuals who presented to hospital with self-harm, the cumulative incidence of diagnosed psychosis was 20.7% at 20 years follow-up (hazard radio = 13.9, 95% CI 13.3-14.6, P-value <5 × 10-308). There was no evidence of a dilution of the effect over time: while the incidence of hospital self-harm presentation increased, this did not result in an attenuation over time of the strength of the relationship between hospital self-harm presentation and subsequent psychosis.CONCLUSIONS: Individuals who present to hospital with self-harm in their teens and 20s represent an important risk group for psychosis prediction and prevention.
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| 3. |
- Curman, Philip, et al.
(författare)
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Darier disease is associated with neurodegenerative disorders and epilepsy
- 2024
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Ingår i: Scientific Reports. - : Nature Publishing Group. - 2045-2322. ; 14:1
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Tidskriftsartikel (refereegranskat)abstract
- Darier disease (DD) is a rare monogenetic skin disorder with limited data on its potential association with neurological disorders. This study aimed to investigate the association between DD and neurological disorders, specifically Parkinson's disease, dementias, and epilepsy. Using Swedish national registers in a period spanning between 1977 and 2013, 935 individuals with DD were compared with up to 100 comparison individuals each, randomly selected from the general population based on birth year, sex, and county of residence at the time of the first diagnosis of DD. Individuals with DD had increased risks of being diagnosed with Parkinson's disease (RR 2.1, CI 1.1; 4.4), vascular dementia (RR 2.1, CI 1.0; 4.2), and epilepsy, (RR 2.5, CI 1.8; 3.5). No association of DD with other dementias were detected. This study demonstrates a new association between DD and neurodegenerative disorders and epilepsy, underlining the need for increased awareness, interdisciplinary collaboration, and further research to understand the underlying mechanisms. Early identification and management of neurological complications in DD patients could improve treatment strategies and patient outcomes. The findings also highlight the role of SERCA2 in the pathophysiology of neurological disorders, offering new targets for future research and potentials for novel treatments.
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| 4. |
- Curman, Philip, et al.
(författare)
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Hailey-Hailey Disease is Associated with Diabetes : A Population-based Cohort Study, Clinical Cohort Study, and Pedigree Analysis
- 2023
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Ingår i: Acta Dermato-Venereologica. - : Medical Journals Sweden. - 0001-5555 .- 1651-2057. ; 103
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Tidskriftsartikel (refereegranskat)abstract
- Hailey-Hailey disease is a rare hereditary skin disease caused by mutations in the ATP2C1 gene encoding the secretory pathway Ca2+/Mn2+-ATPase 1 (SPCA1) protein. Extracutaneous manifestations of Hailey-Hailey disease are plausible but still largely unknown. The aim of this study was to explore the association between Hailey-Hailey disease and diabetes. A population-based cohort study of 347 individuals with Hailey-Hailey disease was performed to assess the risks of type 1 diabetes and type 2 diabetes, using Swedish nationwide registries. Pedigrees from 2 Swedish families with Hailey-Hailey disease were also investigated: 1 with concurrent type 1 diabetes and HLA-DQ3, the other with type 2 diabetes. Lastly, a clinical cohort with 23 individuals with Hailey-Hailey disease and matched healthy controls was evaluated regarding diabetes. In the register data males with Hailey-Hailey disease had a 70% elevated risk of type 2 diabetes, whereas no excess risk among women could be confirmed. In both pedigrees an unusually high inheritance for diabetes was observed. In the clinical cohort, individuals with Hailey-Hailey disease displayed a metabolic phenotype indicative of type 2 diabetes. Hailey-Hailey disease seems to act as a synergistic risk factor for diabetes. This study indicates, for the first time, an association between Hailey-Hailey disease and diabetes and represents human evidence that SPCA1 and the Golgi apparatus may be implicated in diabetes pathophysiology.
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| 5. |
- Curman, Philip, et al.
(författare)
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Increased risk of depression and anxiety in individuals with Darier disease
- 2024
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Ingår i: British Journal of Dermatology. - : Wiley-Blackwell Publishing Inc.. - 0007-0963 .- 1365-2133.
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Tidskriftsartikel (refereegranskat)abstract
- Patients with Darier disease have an increased risk of depression and anxiety, which agrees with patterns of increased prescription of antidepressants and anxiolytics in people with the disease.
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| 6. |
- Kuja-Halkola, Ralf, et al.
(författare)
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Mental Disorders in Peyronie's Disease : A Swedish Cohort Study of 3.5 Million Men
- 2021
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Ingår i: Journal of Urology. - : American Urological Association, Inc.. - 0022-5347 .- 1527-3792. ; 205:3, s. 864-869
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Tidskriftsartikel (refereegranskat)abstract
- PURPOSE: Studies have shown that men with Peyronie's disease often suffer from psychological problems, but the psychiatric burden of this disorder remains largely unknown. We assessed risks of a range of psychiatric outcomes in a population-based, Swedish cohort comprising 3.5 million men.MATERIALS AND METHODS: We conducted a longitudinal cohort study based on Swedish national registers. A total of 8,105 men diagnosed with Peyronie's disease and 3.5 million comparison subjects from the general Swedish population were selected, and followed-up for diagnosed psychiatric outcomes, including substance use disorder, alcohol misuse, anxiety disorder, depression, and self-injurious behaviors. Risks of psychiatric outcomes were estimated with Cox regressions, and additionally adjusted for birth year.RESULTS: Men with Peyronie's disease had increased risks of being diagnosed with substance use disorder; hazard ratio (HR) 1.4, 95% confidence interval (CI) 1.1-1.9, no excess risk of alcohol misuse; HR 0.9, CI 0.8-1.1, but elevated risks of anxiety disorder; HR 1.9, CI 1.6-2.2, depression; HR 1.7, CI 1.5-2.0, self-injurious behaviors; HR 2.0, 95% CI 1.7-2.3, as well as any psychiatric outcomes; HR 1.4, 95% CI 1.2-1.5. The risk estimates were slightly decreased when adjusted for birth year. A limitation of the study was that we had no information about Peyronie's disease diagnoses assigned before year 1997.CONCLUSIONS: Men with Peyronie's disease are at increased risk of being diagnosed with adverse psychiatric outcomes. Health care providers should ensure that men with Peyronie's disease have a documented mental health status assessment.
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| 7. |
- Lichtenstein, P., et al.
(författare)
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Associations between conduct problems in childhood and adverse outcomes in emerging adulthood: a longitudinal Swedish nationwide twin cohort
- 2020
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Ingår i: Journal of Child Psychology and Psychiatry and Allied Disciplines. - : Wiley. - 0021-9630 .- 1469-7610. ; 61:7, s. 798-806
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Tidskriftsartikel (refereegranskat)abstract
- Background We examined whether childhood conduct problems predicted a wide range of adverse outcomes in emerging adulthood and whether the association with internalizing problems remained after adjusting for general comorbidity and externalizing problems. Methods Participants were 18,649 twins from the Child and Adolescent Twin Study in Sweden. At age 9/12, parents rated their children on eight conduct problems. Adverse outcomes were retrieved from national registers in emerging adulthood (median follow‐up time = 9.2 years), including diagnoses of six psychiatric disorders, prescriptions of antidepressants, suicide attempts, criminality, high school ineligibility, and social welfare recipiency. We estimated risk for the separate outcomes and examined if conduct problems predicted an internalizing factor above and beyond a general comorbidity and an externalizing factor. We used twin analyses to estimate genetic and environmental contributions to these associations. Results On the average, each additional conduct symptom in childhood was associated with a 32% increased risk of the adverse outcomes in emerging adulthood (mean hazard ratio = 1.32; range = 1.16, 1.56). A latent childhood conduct problems factor predicted the internalizing factor in emerging adulthood (βboys = .24, standard error, SE = 0.03; βgirls = .17, SE = 0.03), above and beyond its association with the externalizing (βboys = 0.21, SE = 0.04; βgirls = 0.17, SE = 0.05) and general factors (βboys = 0.45, SE = 0.03; βgirls = 0.34, SE = 0.04). These associations were differentially influenced by genetic and environmental factors. Conclusions It is important to monitor boys and girls with conduct problems not only for future externalizing problems, but also for future internalizing problems. Prevention of specific outcomes, however, might require interventions at different levels.
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| 8. |
- Lu, Yi, et al.
(författare)
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Association between medication use and performance on higher education entrance tests in individuals with attention-deficit/hyperactivity disorder
- 2017
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Ingår i: JAMA Psychiatry. - Stockholm : Karolinska Institutet, Dept of Medical Epidemiology and Biostatistics. - 2168-622X .- 2168-6238.
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Tidskriftsartikel (refereegranskat)abstract
- Importance: Individuals with attention-deficit/hyperactivity disorder (ADHD) are at greater risk for academic problems. Pharmacologic treatment is effective in reducing the core symptoms of ADHD, but it is unclear whether it helps to improve academic outcomes. Objective: To investigate the association between the use of ADHD medication and performance on higher education entrance tests in individuals with ADHD. Design, Setting, and Participants: This cohort study observed 61640 individuals with a diagnosis of ADHD from January 1, 2006, to December 31, 2013. Records of their pharmacologic treatment were extracted from Swedish national registers along with data from the Swedish Scholastic Aptitude Test. Using a within-patient design, test scores when patients were taking medication for ADHD were compared with scores when they were not taking such medication. Data analysis was performed from November 24, 2015, to November 4, 2016. Exposures: Periods with and without ADHD medication use. Main Outcomes and Measures: Scores from the higher education entrance examination (score range, 1-200 points). Results: Among 930 individuals (493 males and 437 females; mean [SD] age, 22.2 [3.2] years) who had taken multiple entrance tests (n = 2524) and used ADHD medications intermittently, the test scores were a mean of 4.80 points higher (95% CI, 2.26-7.34; P < .001) during periods they were taking medication vs nonmedicated periods, after adjusting for age and practice effects. Similar associations between ADHD medication use and test scores were detected in sensitivity analyses. Conclusions and Relevance: Individuals with ADHD had higher scores on the higher education entrance tests during periods they were taking ADHD medication vs nonmedicated periods. These findings suggest that ADHD medications may help ameliorate educationally relevant outcomes in individuals with ADHD.
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| 9. |
- Martin, Cederlöf, 1980-, et al.
(författare)
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A longitudinal study of adolescent psychotic experiences and later development of substance use disorder and suicidal behavior
- 2017
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Ingår i: Schizophrenia Research. - Amsterdam, Netherlands : Elsevier. - 0920-9964 .- 1573-2509. ; 181, s. 13-16
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Tidskriftsartikel (refereegranskat)abstract
- Introduction: Psychotic experiences are associated with later substance use disorder and suicidal behavior, but individual psychotic experiences have not been examined in a longitudinal data set. Also, the potential dose-response relationship between these phenomena remains unknown.Method: Cohort study including 9242 adolescents who participated in The Child and Adolescent Twin Study in Sweden (CATSS). At ages 15 and/or 18, seven psychotic experiences (auditory and visual hallucinations, and five delusions) were assessed via questionnaires. Outcomes at follow-up were physician-assigned diagnoses of substance use disorder and suicide attempts ascertained from the Swedish Patient Register. Associations were estimated with Cox regressions and expressed as hazard ratios.Results: All psychotic experiences were associated with later substance use disorder and/or suicide attempts, with hazard ratios ranging from 1.6 to 3.0. A dose-response relationship was observed between psychotic experiences and later substance use disorder, and suicide attempt.Discussion: Auditory and visual hallucinations as well as delusions in adolescence are associated with later development of substance use disorder and suicide attempt, and there is a dose-response relationship between the load of psychotic experiences and these adverse outcomes. Clinicians should assess subclinical hallucinations as well as delusions in psychiatric evaluations of adolescents.
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| 10. |
- Martin, Cederlöf, 1980-, et al.
(författare)
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Acute intermittent porphyria : comorbidity and shared familial risks with schizophrenia and bipolar disorder in Sweden
- 2015
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Ingår i: British Journal of Psychiatry. - London, United Kingdom : Royal College of Psychiatrists. - 0007-1250 .- 1472-1465. ; 207:6, s. 556-557
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Tidskriftsartikel (refereegranskat)abstract
- Acute intermittent porphyria (AIP) has been associated with schizophrenia in some studies, but prior research is limited by the absence of comparison populations. Here, we linked Swedish registers to examine the risk of schizophrenia and bipolar disorder in 717 individuals diagnosed with AIP and their first-degree relatives, compared with matched individuals without AIP and their first-degree relatives. Individuals with AIP had a fourfold increased risk of schizophrenia or bipolar disorder. Similarly, relatives of individuals with AIP had double the risk of schizophrenia or bipolar disorder, suggesting that these associations may be as a result of common genetic influences.
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