SwePub
Sök i SwePub databas

  Extended search

Träfflista för sökning "WFRF:(Bensing Sophie) "

Search: WFRF:(Bensing Sophie)

  • Result 31-40 of 54
Sort/group result
   
EnumerationReferenceCoverFind
31.
  • Landegren, Nils, et al. (author)
  • Proteome-wide survey of the autoimmune target repertoire in autoimmune polyendocrine syndrome type 1
  • 2016
  • In: Scientific Reports. - : Springer Nature. - 2045-2322. ; 6
  • Journal article (peer-reviewed)abstract
    • Autoimmune polyendocrine syndrome type 1 (APS1) is a monogenic disorder that features multiple autoimmune disease manifestations. It is caused by mutations in the Autoimmune regulator (AIRE) gene, which promote thymic display of thousands of peripheral tissue antigens in a process critical for establishing central immune tolerance. We here used proteome arrays to perform a comprehensive study of autoimmune targets in APS1. Interrogation of established autoantigens revealed highly reliable detection of autoantibodies, and by exploring the full panel of more than 9000 proteins we further identified MAGEB2 and PDILT as novel major autoantigens in APS1. Our proteome-wide assessment revealed a marked enrichment for tissue-specific immune targets, mirroring AIRE's selectiveness for this category of genes. Our findings also suggest that only a very limited portion of the proteome becomes targeted by the immune system in APS1, which contrasts the broad defect of thymic presentation associated with AIRE-deficiency and raises novel questions what other factors are needed for break of tolerance.
  •  
32.
  • Lundtoft, Christian, et al. (author)
  • Relation between HLA and copy number variation of steroid 21-hydroxylase in a Swedish cohort of patients with autoimmune Addison's disease.
  • 2023
  • In: European journal of endocrinology. - : Bioscientifica. - 1479-683X .- 0804-4643. ; 189:2, s. 235-241
  • Journal article (peer-reviewed)abstract
    • Autoantibodies against the adrenal enzyme 21-hydroxylase is a hallmark manifestation in autoimmune Addison's disease (AAD). Steroid 21-hydroxylase is encoded by CYP21A2, which is located in the human leucocyte antigen (HLA) region together with the highly similar pseudogene CYP21A1P. A high level of copy number variation is seen for the 2 genes, and therefore, we asked whether genetic variation of the CYP21 genes is associated with AAD.Case-control study on patients with AAD and healthy controls.Using next-generation DNA sequencing, we estimated the copy number of CYP21A2 and CYP21A1P, together with HLA alleles, in 479 Swedish patients with AAD and autoantibodies against 21-hydroxylase and in 1393 healthy controls.With 95% of individuals carrying 2 functional 21-hydroxylase genes, no difference in CYP21A2 copy number was found when comparing patients and controls. In contrast, we discovered a lower copy number of the pseudogene CYP21A1P among AAD patients (P = 5 × 10-44), together with associations of additional nucleotide variants, in the CYP21 region. However, the strongest association was found for HLA-DQB1*02:01 (P = 9 × 10-63), which, in combination with the DRB1*04:04-DQB1*03:02 haplotype, imposed the greatest risk of AAD.We identified strong associations between copy number variants in the CYP21 region and risk of AAD, although these associations most likely are due to linkage disequilibrium with disease-associated HLA class II alleles.
  •  
33.
  • Magnusson, Louise, et al. (author)
  • Mass Cytometry Studies of Patients With Autoimmune Endocrine Diseases Reveal Distinct Disease-Specific Alterations in Immune Cell Subsets
  • 2020
  • In: Frontiers in Immunology. - : FRONTIERS MEDIA SA. - 1664-3224. ; 11
  • Journal article (peer-reviewed)abstract
    • Although there is evidence that autoimmune diseases share similar immunogenetic mechanisms, studies comparing peripheral CD45(+) cells from patients with autoimmune endocrine diseases in parallel are limited. In this study, we applied high-dimensional single-cell mass cytometry to phenotypically characterize PBMC from patients with new-onset (N-T1D) and long-standing type 1 diabetes, Hashimoto's thyroiditis (HT), Graves' disease and autoimmune Addison's disease (AD), as well as healthy controls. The frequency of CD20(lo)CD27(hi)CD38(hi)HLA-DRint plasmablasts, CD86(+)CD14(lo)CD16(+) non-classical monocytes and two subsets of CD56(dim)HLA-DR+IFN-gamma(+) NK cells were increased in patients with HT. Subsets of CD56(dim)CD69(+)HLA-DR- NK cells and CD8(+) TEMRA cells, both expressing IFN-gamma, were expanded and reduced, respectively, in the N-T1D group. In addition, patients with AD were characterized by an increased percentage of central memory CD8(+) T cells that expressed CCR4, GATA3, and IL-2. We demonstrate that patients with N-T1D, HT, and AD had altered frequencies of distinct subsets within antigen-presenting and cytotoxic cell lineages. Previously unreported alterations of specific cell subsets were identified in samples from patients with HT and AD. Our study might contribute to a better understanding of shared and diverging immunological features between autoimmune endocrine diseases.
  •  
34.
  • Mälstam, Emelie, et al. (author)
  • Everyday managing and living with autoimmune Addison's disease : Exploring experiences using photovoice methods
  • 2018
  • In: Scandinavian Journal of Occupational Therapy. - : Informa UK Limited. - 1103-8128 .- 1651-2014. ; 25:5, s. 358-370
  • Journal article (peer-reviewed)abstract
    • People with rare diseases are a minority group that faces risks for healthcare and work inequities because knowledge and resources on how to systematically support health or working life are limited. Integrating voices of persons living with rare diseases are an important aspect in inclusive and relevant healthcare practices. This study sought to actively involve persons with autoimmune Addison's disease (AAD), a rare condition, in exploring challenges and possibilities situated in everyday life. Photovoice methods were utilized to incorporate experiences through photographic documentation and group discussions with five persons over seven weeks. Data generated from group sessions were visually analyzed or transcribed and analyzed with thematic analysis. Five themes emerged: Individual and fine tuning in everyday life; It is not how it was; The power of knowledge and support; Becoming the expert in an uncertain context; and, Finding balance and paving new ways. The findings showed that everyday life with AAD was more complex than earlier portrayed; entailing several barriers and negotiations. In order to meet the needs of persons with AAD, more extensive and relevant information, support and self-management education is needed. Moreover, a complementary focus on everyday life to promote their health and wellbeing is also important.
  •  
35.
  • Oksnes, Marianne, et al. (author)
  • Continuous subcutaneous hydrocortisone infusion versus oral hydrocortisone replacement for treatment of addison's disease : a randomized clinical trial
  • 2014
  • In: Journal of Clinical Endocrinology and Metabolism. - : The Endocrine Society. - 0021-972X .- 1945-7197. ; 99:5, s. 1665-1674
  • Journal article (peer-reviewed)abstract
    • CONTEXT: Conventional glucocorticoid replacement therapy fails to mimic the physiological cortisol rhythm, which may have implications for morbidity and mortality in patients with Addison's disease.OBJECTIVE: The objective of the study was to compare the effects of continuous sc hydrocortisone infusion (CSHI) with conventional oral hydrocortisone (OHC) replacement therapy.DESIGN, PATIENTS, AND INTERVENTIONS: This was a prospective crossover, randomized, multicenter clinical trial comparing 3 months of treatment with thrice-daily OHC vs CSHI. From Norway and Sweden, 33 patients were enrolled from registries and clinics. All patients were assessed at baseline and after 8 and 12 weeks in each treatment arm.MAIN OUTCOME MEASURES: The morning ACTH level was the primary outcome measure. Secondary outcome measures were effects on metabolism, health-related quality of life (HRQoL), sleep, and safety.RESULTS: CSHI yielded normalization of morning ACTH and cortisol levels, and 24-hour salivary cortisol curves resembled the normal circadian variation. Urinary concentrations of glucocorticoid metabolites displayed a normal pattern with CSHI but were clearly altered with OHC. Several HRQoL indices in the vitality domain improved over time with CSHI. No benefit was found for either treatments for any subjective (Pittsburgh Sleep Quality Index questionnaire) or objective (actigraphy) sleep parameters.CONCLUSION: CSHI safely brought ACTH and cortisol toward normal circadian levels without adversely affecting glucocorticoid metabolism in the way that OHC did. Positive effects on HRQoL were noted with CSHI, indicating that physiological glucocorticoid replacement therapy may be beneficial and that CSHI might become a treatment option for patients poorly controlled on conventional therapy.
  •  
36.
  • Papakokkinou, Eleni, et al. (author)
  • Excess Morbidity Persists in Patients With Cushing’s Disease During Long-term Remission : A Swedish Nationwide Study
  • 2020
  • In: Journal of Clinical Endocrinology and Metabolism. - Washington : Oxford University Press. - 0021-972X .- 1945-7197. ; 105:8, s. 2616-2624
  • Journal article (peer-reviewed)abstract
    • Context: Whether multisystem morbidity in Cushing's disease (CD) remains elevated during long-term remission is still undetermined.Objective: To investigate comorbidities in patients with CD.Design, setting, and patients: A retrospective, nationwide study of patients with CD identified in the Swedish National Patient Register between 1987 and 2013. Individual medical records were reviewed to verify diagnosis and remission status.Main outcomes: Standardized incidence ratios (SIRs) with 95% confidence intervals (CIs) were calculated by using the Swedish general population as reference. Comorbidities were investigated during three different time periods: (i) during the 3 years before diagnosis, (ii) from diagnosis to 1 year after remission, and (iii) during long-term remission.Results: We included 502 patients with confirmed CD, of whom 419 were in remission for a median of 10 (interquartile range 4 to 21) years. SIRs (95% CI) for myocardial infarction (4.4; 1.2 to 11.4), fractures (4.9; 2.7 to 8.3), and deep vein thrombosis (13.8; 3.8 to 35.3) were increased during the 3-year period before diagnosis. From diagnosis until 1 year after remission, SIRs (95% CI were increased for thromboembolism (18.3; 7.9 to 36.0), stroke (4.9; 1.3 to 12.5), and sepsis (13.6; 3.7 to 34.8). SIRs for thromboembolism (4.9; 2.6 to 8.4), stroke (3.1; 1.8 to 4.9), and sepsis (6.0; 3.1 to 10.6) remained increased during long-term remission.Conclusion: Patients with CD have an increased incidence of stroke, thromboembolism, and sepsis even after remission, emphasizing the importance of early identification and management of risk factors for these comorbidities during long-term follow-up.
  •  
37.
  • Ragnarsson, Oskar, 1971, et al. (author)
  • Overall and Disease-Specific Mortality in Patients With Cushing Disease: A Swedish Nationwide Study
  • 2019
  • In: Journal of Clinical Endocrinology and Metabolism. - : ENDOCRINE SOC. - 0021-972X .- 1945-7197. ; 104:6, s. 2375-2384
  • Journal article (peer-reviewed)abstract
    • Context: Whether patients with Cushing disease (CD) in remission have increased mortality is still debatable. Objective: To study overall and disease-specific mortality and predictive factors in an unselected nationwide cohort of patients with CD. Design, Patients, and Methods: A retrospective study of patients diagnosed with CD, identified in the Swedish National Patient Registry between 1987 and 2013. Medical records were systematically reviewed to verify the diagnosis. Standardized mortality ratios (SMRs) with 95% CIs were calculated and Cox regression models were used to identify predictors of mortality. Results: Of 502 identified patients with CD (n = 387 women; 77%), 419 (83%) were confirmed to be in remission. Mean age at diagnosis was 43 (SD, 16) years and median follow-up was 13 (interquartile range, 6 to 23) years. The observed number of deaths was 133 vs 54 expected, resulting in an overall SMR of 2.5 (95% CI, 2.1 to 2.9). The commonest cause of death was cardiovascular diseases (SMR, 3.3; 95% CI, 2.6 to 4.3). Excess mortality was also found associated with infections and suicide. For patients in remission, the SMR was 1.9 (95% CI, 1.5 to 2.3); bilateral adrenalectomy and glucocorticoid replacement therapy were independently associated with increased mortality, whereas GH replacement was associated with improved outcome. Conclusion: Findings from this large nationwide study indicate that patients with CD have excess mortality. The findings illustrate the importance of achieving remission and continued active surveillance, along with adequate hormone replacement and evaluation of cardiovascular risk and mental health.
  •  
38.
  • Ragnarsson, Oskar, 1971, et al. (author)
  • The incidence of Cushing’s disease : a nationwide Swedish study
  • 2019
  • In: Pituitary. - : Springer. - 1386-341X .- 1573-7403. ; 22:2, s. 179-186
  • Journal article (peer-reviewed)abstract
    • Background: Studies on the incidence of Cushing’s disease (CD) are few and usually limited by a small number of patients. The aim of this study was to assess the annual incidence in a nationwide cohort of patients with presumed CD in Sweden.Methods: Patients registered with a diagnostic code for Cushing’s syndrome (CS) or CD, between 1987 and 2013 were identified in the Swedish National Patient Registry. The CD diagnosis was validated by reviewing clinical, biochemical, imaging, and histopathological data.Results: Of 1317 patients identified, 534 (41%) had confirmed CD. One-hundred-and-fifty-six (12%) patients had other forms of CS, 41 (3%) had probable but unconfirmed CD, and 334 (25%) had diagnoses unrelated to CS. The mean (95% confidence interval) annual incidence between 1987 and 2013 of confirmed CD was 1.6 (1.4–1.8) cases per million. 1987–1995, 1996–2004, and 2005–2013, the mean annual incidence was 1.5 (1.1–1.8), 1.4 (1.0–1.7) and 2.0 (1.7–2.3) cases per million, respectively. During the last time period the incidence was higher than during the first and second time periods (P < 0.05).Conclusion: The incidence of CD in Sweden (1.6 cases per million) is in agreement with most previous reports. A higher incidence between 2005 and 2013 compared to 1987–2004 was noticed. Whether this reflects a truly increased incidence of the disease, or simply an increased awareness, earlier recognition, and earlier diagnosis can, however, not be answered. This study also illustrates the importance of validation of the diagnosis of CD in epidemiological research.
  •  
39.
  • Saevik, Ase Bjorvatn, et al. (author)
  • Altered biomarkers for cardiovascular disease and inflammation in autoimmune Addison's disease - a cross-sectional study
  • 2023
  • In: European Journal of Endocrinology. - : Bioscientifica. - 0804-4643 .- 1479-683X. ; 189:4, s. 438-447
  • Journal article (peer-reviewed)abstract
    • Objective: Increased prevalence of cardiovascular disease has been reported in autoimmune Addisons disease (AAD), but pathomechanisms are poorly understood.Design: Cross-sectional study.Methods: We compared serum levels of 177 cardiovascular and inflammatory biomarkers in 43 patients with AAD at >18-h glucocorticoid withdrawal and 43 matched controls, overall and stratified for sex. Biomarker levels were correlated with the frequency of adrenal crises and quality of life (QoL) by AddiQoL-30. Finally, we investigated changes in biomarker levels following 250 mu g tetracosactide injection in patients without residual adrenocortical function (RAF) to explore glucocorticoid-independent effects of high ACTH.Results: Nineteen biomarkers significantly differed between patients with AAD and controls; all but 1 (ST1A1) were higher in AAD. Eight biomarkers were significantly higher in female patients compared with controls (IL6, MCP1, GAL9, SPON2, DR4, RAGE, TNFRSF9, and PGF), but none differed between male patients and controls. Levels of RAGE correlated with the frequency of adrenal crises (r = 0.415, P = .006) and AddiQoL-30 scores (r = -0.347, P = .028) but not after correction for multiple testing. PDL2 and leptin significantly declined 60 min after injection of ACTH in AAD without RAF (-0.15 normalized protein expression [NPX], P = .0001, and -0.25 NPX, P = .0003, respectively).Conclusions: We show that cardiovascular and inflammatory biomarkers are altered in AAD compared with controls, particularly in women. RAGE might be a marker of disease severity in AAD, associated with more adrenal crises and reduced QoL. High ACTH reduced PDL2 and leptin levels in a glucocorticoid-independent manner but the overall effect on biomarker profiles was small.
  •  
40.
  • Sævik, Åse Bjorvatn, et al. (author)
  • Residual Corticosteroid Production in Autoimmune Addison Disease
  • 2020
  • In: Journal of Clinical Endocrinology and Metabolism. - Washington : Oxford University Press. - 0021-972X .- 1945-7197. ; 105:7, s. 2430-2441
  • Journal article (peer-reviewed)abstract
    • Context: Contrary to current dogma, growing evidence suggests that some patients with autoimmune Addison disease (AAD) produce corticosteroids even years after diagnosis.Objective: To determine frequencies and clinical features of residual corticosteroid production in patients with AAD.Design: Two-staged, cross-sectional clinical study in 17 centers (Norway, Sweden, and Germany). Residual glucocorticoid (GC) production was defined as quantifiable serum cortisol and 11-deoxycortisol and residual mineralocorticoid (MC) production as quantifiable serum aldosterone and corticosterone after > 18 hours of medication fasting. Corticosteroids were analyzed by liquid chromatography-tandem mass spectrometry. Clinical variables included frequency of adrenal crises and quality of life. Peak cortisol response was evaluated by a standard 250 µg cosyntropin test.Results: Fifty-eight (30.2%) of 192 patients had residual GC production, more common in men (n = 33; P < 0.002) and in shorter disease duration (median 6 [0-44] vs 13 [0-53] years; P < 0.001). Residual MC production was found in 26 (13.5%) patients and associated with shorter disease duration (median 5.5 [0.5-26.0] vs 13 [0-53] years; P < 0.004), lower fludrocortisone replacement dosage (median 0.075 [0.050-0.120] vs 0.100 [0.028-0.300] mg; P < 0.005), and higher plasma renin concentration (median 179 [22-915] vs 47.5 [0.6-658.0] mU/L; P < 0.001). There was no significant association between residual production and frequency of adrenal crises or quality of life. None had a normal cosyntropin response, but peak cortisol strongly correlated with unstimulated cortisol (r = 0.989; P < 0.001) and plasma adrenocorticotropic hormone (ACTH; r = -0.487; P < 0.001).Conclusion: In established AAD, one-third of the patients still produce GCs even decades after diagnosis. Residual production is more common in men and in patients with shorter disease duration but is not associated with adrenal crises or quality of life.
  •  
Skapa referenser, mejla, bekava och länka
  • Result 31-40 of 54
Type of publication
journal article (51)
doctoral thesis (2)
book chapter (1)
Type of content
peer-reviewed (49)
other academic/artistic (4)
pop. science, debate, etc. (1)
Author/Editor
Bensing, Sophie (53)
Kämpe, Olle (29)
Dahlqvist, Per (19)
Wahlberg, Jeanette, ... (16)
Hulting, Anna-Lena (14)
Husebye, Eystein S. (13)
show more...
Eriksson, Daniel (12)
Ekwall, Olov, 1968 (11)
Hallgren, Åsa (8)
Landegren, Nils, 198 ... (6)
Aranda-Guillen, Mari ... (6)
Wahlberg, Jeanette (6)
Methlie, Paal (6)
Johannsson, Gudmundu ... (5)
Kämpe, Olle, 1956- (5)
Ekwall, Olov (5)
Björnsdottir, Sigrid ... (5)
Kampe, Olle (4)
Rönnblom, Lars (4)
Ragnarsson, Oskar, 1 ... (4)
Gustafsson, Jan (4)
Perheentupa, Jaakko (4)
Höybye, Charlotte (4)
Olsson, Daniel S, 19 ... (4)
Alimohammadi, Mohamm ... (4)
Isaksson, Magnus (4)
Bergthorsdottir, Rag ... (4)
Oksnes, Marianne (4)
Bratland, Eirik (4)
Crock, Patricia A. (4)
Lindblad-Toh, Kersti ... (3)
Esposito, Daniela (3)
Rönnelid, Johan (3)
Olsson, Tommy (3)
Rorsman, Fredrik (3)
Berinder, Katarina (3)
Burman, Pia (3)
Johansson, Stefan (3)
Erfurth, Eva Marie (3)
Chantzichristos, Dim ... (3)
Papakokkinou, Eleni (3)
Petersson, Maria (3)
Bryngelsson, Ing-Lis ... (3)
Artaza, Haydee (3)
Botusan, Ileana Ruxa ... (3)
Nermoen, Ingrid (3)
Schwarcz, Erik (3)
Hulting, A-L (3)
Bianchi, Matteo (3)
Simunkova, Katerina (3)
show less...
University
Karolinska Institutet (46)
Uppsala University (40)
Örebro University (19)
Linköping University (17)
University of Gothenburg (16)
Umeå University (15)
show more...
Lund University (4)
Swedish University of Agricultural Sciences (2)
University of Gävle (1)
show less...
Language
English (49)
Swedish (5)
Research subject (UKÄ/SCB)
Medical and Health Sciences (36)
Natural sciences (2)

Year

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

 
pil uppåt Close

Copy and save the link in order to return to this view