| 1. |
- Alrutz, Marie, et al.
(författare)
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Projektledning
- 2013
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Bok (populärvet., debatt m.m.)abstract
- Projektledning är ett yrke med egen certifiering. Det pågår en spännande utveckling inom området och det blir allt viktigare att hålla sig ajour med utvecklingen.Det övergripande målet med den här handboken är att vara en ständigt aktuell heltäckande bok om projektarbete. Innehållsmässigt täcker den både frågor som har med struktur och styrning att göra och frågor om ledning av människor och mänskliga processer i grupp. Kompetens inom projekt byggs av både kunskap och erfarenhet. Vi följer kontinuerligt aktuell forskning inom dessa områden och bjuder in intressanta forskare att medverka som författare. Vi skildrar verkliga projekt och låter erfarenheterna få plats, både de bästa erfarenheterna och de utmaningar som man tagit sig igenom.Handboken är levande och det innebär att artiklar tas bort för att ge plats för nya, i takt med att den uppdateras fortlöpande.
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| 2. |
- 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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| 3. |
- Brew, Bronwyn K., et al.
(författare)
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Maternal mental health disorders and offspring asthma and allergic diseases : The role of child mental health
- 2024
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Ingår i: Pediatric Allergy and Immunology. - : Munksgaard Forlag. - 0905-6157 .- 1399-3038. ; 35:2
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Maternal psychological stress during pregnancy and postnatally has been shown to be associated with offspring atopic diseases (asthma, atopic dermatitis and allergic rhinitis). The aim of this study was to assess whether this association may be attributable to the child's own mental health disorders.METHOD: The study population included 15,092 twin children born 2002-2010 in Sweden. Questionnaire data at age 9 years was linked to national patient- and prescription registers. Maternal mental health during pregnancy and 3 years postnatally were identified from diagnosis and medication data (depression, anxiety and stress disorders). Atopic diseases in children were identified from questionnaires, diagnosis and medication data. Child mental health status (depression and anxiety) was identified from questionnaires. Three-way decomposition methods tested for mediation or interaction by child mental health disorders.RESULTS: Maternal mental health disorders were associated with most child atopic diseases including asthma aRR1.36 (95% CI 1.12, 1.60), and child mental health disorders, aRR1.73 (95% CI 1.56, 1.92). Children with mental health disorders were comorbid for atopic diseases with only asthma reaching statistical significance, aRR1.29 (95% CI 1.14, 1.47). Three-way decomposition found that mediation or interaction by child mental health disorders did not account for the mother mental health and child atopy associations except in parent-report asthma, where child mental health disorders mediated 13.4% (95% CI 2.1, 24.7) of the effect, but not for objectively defined (diagnosis and medication) asthma.CONCLUSION: The associations between maternal mental health and child asthma and allergic diseases do not appear to be attributable to child mental health disorders.
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| 4. |
- 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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| 5. |
- Curman, Philip
(författare)
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Darier disease : more than skin deep
- 2021
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- Darier disease (DD) is a severe, inherited dermatological disorder with a characteristic clinical and histopathological appearance. It is caused by mutations in the ATP2A2 gene, encoding a Ca2+ pump in the endoplasmic reticulum, Sarco/Endoplasmic Reticulum Ca2+-ATPase 2 (SERCA2), which has been found to be an essential regulator of cellular Ca2+ homeostasis. SERCA2 is expressed in all cells of the body, not just the skin, and has been implicated in physiological and pathophysiological mechanisms in several organs, thus rendering the occurrence of extra-dermal presentations plausible. DD has so far only been associated with brain-related disorders. The overall aim of this thesis was to investigate comorbidities associated with DD. In study I, II and III, experimental, matched case-control designs were used to evaluate broad cognitive function, heart disease and diabetes in individuals with DD compared with matched healthy controls. Individuals with DD were found to exhibit a widespread, significant impairment in cognitive function assessed with the Cambridge Neuropsychological Test Automated Battery, evaluating general cognitive function. A possible defect in serum lipid handling was also seen, as well as evidence of pancreatic β-cell dysfunction indicating a metabolic state seen during the development of type 2 diabetes. In study II and IV, a population-based cohort design, comparing data on individuals with DD taken from the National Patient Register with matched comparison subjects from the Total Population Register, was used. Individuals with DD displayed a 59% risk increase of heart failure (risk ratio [RR] 1.59, confidence interval [CI] 1.16-2.19) and a 32% risk increase of any heart diagnosis (RR 1.32, CI 1.02-1.70). Female DD patients had a 59% risk increase of any heart diagnosis (RR 1.59, CI 1.13-2.25). The first heart diagnosis also occurred almost seven years earlier in individuals with DD (70.0 vs. 76.9 years). A 74% increased risk of type 1 diabetes diagnosis was also seen (RR 1.74, CI 1.13-2.69). In study V, immune cell markers were evaluated in a small cohort of DD patients. The values of CD19+ B cells were found to be lower than the normal laboratory range on average, which together with the evidence of the importance of SERCA2 in B cell development indicates a possible immune system defect. This finding can help explain the recurring secondary infections often troubling individuals with DD. In conclusion, DD has been found to be associated with impaired cognitive function, heart disease and diabetes, as well as a possible defect in the immune system. The range of comorbidities associated with DD has been expanded to include several organs, resulting in the confident conclusion that DD should be viewed as a systemic disorder. This has several important implications, both for the individual patient and in routine care for this group of patients. Looking forward, it will quite possibly influence the way DD is treated.
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| 6. |
- 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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| 7. |
- 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. ; 191:3, s. 462-463
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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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| 8. |
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| 9. |
- Jebril, William, et al.
(författare)
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Increased risk of cardiac arrhythmia in Hailey-Hailey disease patients
- 2024
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Ingår i: PLOS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 19:9
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Hailey-Hailey disease (HHD) is a rare autosomal dominant skin disease caused by mutations in the ATP2C1 gene, which encodes the secretory Ca2+/Mn2+-ATPase (SPCA1) pump in the Golgi apparatus. Although ATP2C1 is ubiquitously expressed in the body, possible extracutaneous manifestations of HHD are unknown. However, dysfunction of the Golgi apparatus not specifically coupled to ATP2C1 has been associated with heart disease.OBJECTIVE: To investigate the association between HHD and common heart disease in a Swedish, population-based cohort.METHODS: We conducted a population-based cohort study based on a linkage of Swedish nationwide registers to investigate the relationship between HHD and heart disease. We have been granted ethical approval from the Swedish Ethical Review Authority to conduct this study. The patients in this manuscript have given written informed consent to the publication of their case details. A total of 342 individuals with an ICD-10 diagnosis of HHD (Q82.8E) were identified and matched with randomly selected comparison individuals without HHD on a 1:100 ratio. Furthermore, in a separate clinical cohort we matched 23 HHD patients for age, sex, and BMI with control subjects to examine electrocardiogram parameters, electrolytes, and cardiovascular biomarkers.RESULTS: Compared with individuals without HHD, individuals with HHD had an excess risk of arrhythmia (RR 1.4, CI 1.0-2.0), whereas no increased risks of myocardial infarction (RR 1.1, CI 0.6-1.7) or heart failure (RR 1.0, CI 0.6-1.6; Table 1) were found. We found no difference in ECG parameters, cardiovascular biomarkers, and electrolytes in the clinical subset.CONCLUSION: This study reveals that HHD is associated with an increased risk of arrhythmia and represents the first data of any extracutaneous comorbidity in HHD. Thus, HHD may be a systemic disease. Our findings also shed light on the importance of the Golgi apparatus' Ca2+/Mn2+ homeostasis in common heart disease.
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| 10. |
- Martin, Cederlöf, 1980-, et al.
(författare)
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Individuals with Darier disease have an increased risk of suicide and self-injurious behaviours
- 2024
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Ingår i: British Journal of Dermatology. - : Wiley-Blackwell Publishing Inc.. - 0007-0963 .- 1365-2133. ; 190:2, s. 284-285
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Tidskriftsartikel (refereegranskat)abstract
- In a large population-based registry study of 935 patients in Sweden with Darier disease, we show that patients with the disease display significantly increased risks of suicide and self-injurious behaviours.
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