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Publications (10 of 54) Show all publications
Tjust, A. E., Hellman, U., Giannopoulos, A., Winsnes, A., Strigård, K. & Gunnarsson, U. (2024). Evaluation of extracellular matrix remodeling in full-thickness skin grafts in mice. Journal of Histochemistry and Cytochemistry, 72(2), 79-94
Open this publication in new window or tab >>Evaluation of extracellular matrix remodeling in full-thickness skin grafts in mice
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2024 (English)In: Journal of Histochemistry and Cytochemistry, ISSN 0022-1554, E-ISSN 1551-5044, Vol. 72, no 2, p. 79-94Article in journal (Refereed) Published
Abstract [en]

Abdominal hernia is a protruding weakness in the abdominal wall. It affects abdominal strength and life quality and can lead to complications due to intestinal entrapment. Autologous full-thickness skin graft (FTSG) has recently become an alternative material for reinforcement in the surgical repair of large abdominal hernias instead of synthetic mesh. FTSG eventually integrates with the abdominal wall, but the long-term fate of the graft itself is not fully understood. This has implications as to how these grafts should be optimally used and handled intraoperatively. This study investigates the remodeling of FTSG in either the onlay or the intraperitoneal position 8 weeks after FTSG transplantation in an experimental mouse model. There was a significant presence of fibroblasts, indicated by vimentin and S100A4 staining, but there were significant variations among animals as to how much of the graft had been remodeled into dense connective tissue. This correlated significantly with the proportion of vimentin-positive cells in the dense connective tissue. We also found that collagen hybridizing peptide staining intensity, a marker of active remodeling, was significantly associated with the proportion of S100A4-positive cells in the dense connective tissue of the FTSG.

Place, publisher, year, edition, pages
Sage Publications, 2024
Keywords
collagen, extracellular matrix, fibroblasts, hernia, hyaluronan, mouse model, S100A4, vimentin
National Category
Surgery
Identifiers
urn:nbn:se:umu:diva-221051 (URN)10.1369/00221554231225995 (DOI)001147995400001 ()38264898 (PubMedID)2-s2.0-85184511984 (Scopus ID)
Funder
Swedish Research Council, 2021-00972Region Västerbotten, RV-927121Region Västerbotten, RV-965797
Available from: 2024-02-21 Created: 2024-02-21 Last updated: 2024-02-21Bibliographically approved
Law, L., Lindqvist, P., Liv, P., Hellman, U., Lejon, K., Geijer, M., . . . Forsblad-d'Elia, H. (2024). Increased carotid intima-media thickness in patients with radiographic axial spondyloarthritis compared to controls and associations with markers of inflammation. Clinical Rheumatology, 43(5), 1559-1570
Open this publication in new window or tab >>Increased carotid intima-media thickness in patients with radiographic axial spondyloarthritis compared to controls and associations with markers of inflammation
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2024 (English)In: Clinical Rheumatology, ISSN 0770-3198, E-ISSN 1434-9949, Vol. 43, no 5, p. 1559-1570Article in journal (Refereed) Published
Abstract [en]

Objective: There is an increased risk for cardiovascular disease (CVD) in patients with radiographic axial spondyloarthritis (r-axSpA). In this cross-sectional study, we aimed to, overall and stratified by sex, (i) compare ultrasound derived carotid intima media thickness (cIMT), between patients and controls, and (ii) investigate associations between cIMT, clinical disease activity and inflammation-related laboratory markers in patients with r-axSpA.

Method: In total, 155 patients diagnosed with r-axSpA using the modified New York criteria and 400 controls were included. Bilateral carotid ultrasound, laboratory testing, and questionaries were acquired. Disease-specific assessments were carried out for patients. Linear regression analysis was used to assess associations.

Results: Linear regression analyses showed that patients with r-axSpA had increased mean cIMT compared to controls (mean ± SD, 0.8 ± 0.1 mm vs 0.7± 0.1 mm, respectively, unstandardized β (95% CI) -0.076 (-0.10, -0.052), P < 0.001) adjusted for smoking status and age. Linear regression analyses for patients with r-axSpA showed that only males presented significant associations between cIMT and inflammation-related laboratory markers, white blood cell (WBC) count (mean ± SD, 6.8 ± 1.6 109/L) and monocytes (0.6 ± 0.2 109/L); WBC count (unstandardized β (95% CI) 0.019 (0.0065, 0.031), P = 0.003, R2 = 0.57) and monocytes (0.13 (0.0047, 0.26), P = 0.041, R2 = 0.55), adjusted for age, smoking status, body mass index, hypertension, dyslipidemia, diabetes mellitus, ASDAS-CRP, and treatment with DMARDs and glucocorticoids. No significant association was found between cIMT and clinical disease activity assessed by ASDAS-CRP.

Conclusion: Patients with r-axSpA had significantly increased cIMT compared to controls. In male patients, higher WBC and monocyte count were associated with an increase in cIMT suggesting the role of inflammation in the development of atherosclerosis. 

Place, publisher, year, edition, pages
Springer Nature, 2024
Keywords
Cardiovascular disease (CVD), Carotid intima-media thickness (cIMT), Radiographic axial spondyloarthritis (r-axSpA), Ultrasound
National Category
Cardiac and Cardiovascular Systems
Identifiers
urn:nbn:se:umu:diva-221778 (URN)10.1007/s10067-024-06913-8 (DOI)001176391500001 ()38443604 (PubMedID)2-s2.0-85186622797 (Scopus ID)
Funder
Swedish Research CouncilRegion VästerbottenStiftelsen Konung Gustaf V:s 80-årsfond
Available from: 2024-03-06 Created: 2024-03-06 Last updated: 2024-04-18Bibliographically approved
Lejon, K., Hellman, U., Kumar, A. & Forsblad-d'Elia, H. (2023). Decreased levels of T follicular helper (CD4+CXCR5+) cells and CD27+CD38+ and CD27+CD38− B cells in ankylosing spondylitis patients correlate with markers of inflammation. Scandinavian Journal of Immunology, 97(1), Article ID e13235.
Open this publication in new window or tab >>Decreased levels of T follicular helper (CD4+CXCR5+) cells and CD27+CD38+ and CD27+CD38− B cells in ankylosing spondylitis patients correlate with markers of inflammation
2023 (English)In: Scandinavian Journal of Immunology, ISSN 0300-9475, E-ISSN 1365-3083, Vol. 97, no 1, article id e13235Article in journal (Refereed) Published
Abstract [en]

The purpose of this study was to study CD4+CXCR5+ T follicular helper (TFH) cells, CD27+CD38+ plasmablasts and CD27+CD38− memory B cells, as well as disease-related factors in patients with ankylosing spondylitis (AS) from northern Sweden. Peripheral blood mononuclear cells (PBMC) from 50 patients with AS (mean age 52 ± 9 years, 66% men, 100% HLA-B27 positive) and 50 pairwise matched blood donor controls (mean age 54 ± 9 years, 66% men) were stained with antibodies for CD27, CD38, CD19, CD3, CD4 and CXCR5 markers and analysed by flow cytometry. Patients with AS were examined with spinal x-ray for radiographic alterations (mSASSS), and plasma levels of C-reactive protein, erythrocyte sedimentation rate, as well as selected proinflammatory and regulatory cytokines were determined. Physical mobility, function and disease activity were registered by BASMI, BASFI and ASDAS-CRP, BASDAI, respectively. Comparing AS patients and controls pairwise, we observed a 56% reduction of TFH cells in PBMCs from AS patients (P =.000008). Furthermore, a 20%-30% reduction in plasmablasts and B memory cells (P ≤.002 and P ≤.007, respectively) was observed. In female patients, negative correlations between ESR and TFH, plasmablasts and B memory cells were observed; Rs = −0.551, P ≤.02; Rs = −0.476, P ≤.05 and Rs = −0.522, P ≤.03, respectively. In addition, positive correlations between the regulatory cytokine IL-10 and the proportion of B cells, IL-22, and the proportion of plasmablasts as well as a negative correlation between levels of the proinflammatory cytokine IL-6 and TFH were detected. Our observations indicate a role of an aberrant humoral immune response related to inflammation in AS.

Place, publisher, year, edition, pages
John Wiley & Sons, 2023
Keywords
ankylosing spondylitis, memory B cells, plasmablasts, radiographic axial spondyloarthritis, TFH
National Category
Immunology in the medical area Rheumatology and Autoimmunity
Identifiers
urn:nbn:se:umu:diva-201478 (URN)10.1111/sji.13235 (DOI)000889655600001 ()2-s2.0-85142643347 (Scopus ID)
Funder
Stiftelsen Konung Gustaf V:s 80-årsfond, FAI2017-0454Region Västerbotten, ALFVLL-640251Swedish Research Council, 2016-02035
Available from: 2022-12-06 Created: 2022-12-06 Last updated: 2023-03-24Bibliographically approved
Östgren, C. J., Otten, J., Festin, K., Angerås, O., Bergström, G., Cederlund, K., . . . Sundström, J. (2023). Prevalence of atherosclerosis in individuals with prediabetes and diabetes compared to normoglycaemic individuals-a Swedish population-based study. Cardiovascular Diabetology, 22(1), Article ID 261.
Open this publication in new window or tab >>Prevalence of atherosclerosis in individuals with prediabetes and diabetes compared to normoglycaemic individuals-a Swedish population-based study
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2023 (English)In: Cardiovascular Diabetology, ISSN 1475-2840, E-ISSN 1475-2840, Vol. 22, no 1, article id 261Article in journal (Refereed) Published
Abstract [en]

BACKGROUND: Patients with type 2 diabetes have an increased risk of death and cardiovascular events and people with diabetes or prediabetes have been found to have increased atherosclerotic burden in the coronary and carotid arteries. This study will estimate the cross-sectional prevalence of atherosclerosis in the coronary and carotid arteries in individuals with prediabetes and diabetes, compared with normoglycaemic individuals in a large population-based cohort.

METHODS: The 30,154 study participants, 50-64 years, were categorized according to their fasting glycaemic status or self-reported data as normoglycaemic, prediabetes, and previously undetected or known diabetes. Prevalence of affected coronary artery segments, severity of stenosis and coronary artery calcium score (CACS) were determined by coronary computed tomography angiography. Total atherosclerotic burden was assessed in the 11 clinically most relevant segments using the Segment Involvement Score and as the presence of any coronary atherosclerosis. The presence of atherosclerotic plaque in the carotid arteries was determined by ultrasound examination.

RESULTS: Study participants with prediabetes (n = 4804, 16.0%) or diabetes (n = 2282, 7.6%) had greater coronary artery plaque burden, more coronary stenosis and higher CACS than normoglycaemic participants (all, p < 0.01). Among male participants with diabetes 35.3% had CACS ≥ 100 compared to 16.1% among normoglycaemic participants. For women, the corresponding figures were 8.9% vs 6.1%. The prevalence of atherosclerosis in the coronary arteries was higher in participants with previously undetected diabetes than prediabetes, but lower than in patients with known diabetes. The prevalence of any plaque in the carotid arteries was higher in participants with prediabetes or diabetes than in normoglycaemic participants.

CONCLUSIONS: In this large population-based cohort of currently asymptomatic people, the atherosclerotic burden in the coronary and carotid arteries increased with increasing degree of dysglycaemia. The finding that the atherosclerotic burden in the coronary arteries in the undetected diabetes category was midway between the prediabetes category and patients with known diabetes may have implications for screening strategies and tailored prevention interventions for people with dysglycaemia in the future.

Place, publisher, year, edition, pages
BioMed Central (BMC), 2023
Keywords
Atherosclerosis, Carotid arteries, Coronary arteries, Coronary computed tomography angiography, Diabetes, Prediabetes
National Category
Endocrinology and Diabetes
Identifiers
urn:nbn:se:umu:diva-215075 (URN)10.1186/s12933-023-01982-6 (DOI)37759237 (PubMedID)2-s2.0-85172780903 (Scopus ID)
Funder
Swedish Heart Lung Foundation, 2016-0315Knut and Alice Wallenberg Foundation, 2014-0047Swedish Research Council, 822-2013- 2000Vinnova, 2012-04476University of GothenburgKarolinska InstituteRegion StockholmLinköpings universitetLund UniversityUmeå UniversityUppsala UniversitySwedish Research Council, 2018-02527Swedish Heart Lung Foundation, 2021-03459AFA InsuranceEU, European Research Council, ERC-2018-STG801965Swedish Research Council, 2019-01471Swedish Heart Lung Foundation, 20190505Swedish Heart Lung Foundation, 20210184Swedish Research Council, 2021-06432
Available from: 2023-10-13 Created: 2023-10-13 Last updated: 2023-10-13Bibliographically approved
Lejon, K., Hellman, U., Do, L., Kumar, A. & Forsblad-d'Elia, H. (2022). Increased proportions of inflammatory T cells and their correlations with cytokines and clinical parameters in patients with ankylosing spondylitis from northern Sweden. Scandinavian Journal of Immunology, 96(3), Article ID e13190.
Open this publication in new window or tab >>Increased proportions of inflammatory T cells and their correlations with cytokines and clinical parameters in patients with ankylosing spondylitis from northern Sweden
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2022 (English)In: Scandinavian Journal of Immunology, ISSN 0300-9475, E-ISSN 1365-3083, Vol. 96, no 3, article id e13190Article in journal (Refereed) Published
Abstract [en]

Ankylosing spondylitis (AS) is an autoimmune disease affecting parts of the skeletal structure in particular. Previously increased levels of the inflammatory cell types Th17, Th22, Tc17 and Tc22 cells have been shown to be associated with AS. Here, we analysed the levels of inflammatory T cell subsets, related cytokines and clinical characteristics of AS patients vs controls from northern Sweden. Peripheral blood mononuclear cells (PBMCs) obtained from 50 AS patients and 50 matched controls were short term stimulated with PMA/Ionomycin, stained and analysed by flow cytometry. Plasma levels of Interleukin (IL)-17, IL-22, IL-10 as well as clinically relevant markers were determined. Compared to male controls, male AS patients showed 1.5- to 2-fold increases of Th17 (P = .013), Th22 (P = .003) and Tc22 (P = .024) among CD45+CD3+ lymphocytes. Plasma IL-22 levels correlated with the Tc17 proportion in male patients (Rs = 0.499, P = .003) and plasma IL-10 levels were inversely correlated with Tc17 among all patients (Rs = −0.276, P = .05). Male patients with syndesmophytes showed significantly higher Th17 proportions (P = .038). In female AS patients, Tc22 was negatively correlated with C-reactive protein (high sensitivity) (hsCRP) (Rs = −0.573, P = .016). We confirmed increased proportions of inflammatory T cells and correlations with relevant cytokines from male AS patients. The correlation between Th17 and syndesmophytes supports a role of Th17 in the pathogenic process.

Place, publisher, year, edition, pages
John Wiley & Sons, 2022
Keywords
ankylosing spondylitis, radiographic axial spondyloarthritis, T cells
National Category
Public Health, Global Health, Social Medicine and Epidemiology Rheumatology and Autoimmunity
Identifiers
urn:nbn:se:umu:diva-196537 (URN)10.1111/sji.13190 (DOI)000804576100001 ()35506752 (PubMedID)2-s2.0-85131064416 (Scopus ID)
Funder
Swedish Research Council, 2016‐02035Region Västerbotten, ALFVLL‐640251Stiftelsen Konung Gustaf V:s 80-årsfond, FAI‐2017‐0454Swedish Rheumatism Association
Available from: 2022-06-14 Created: 2022-06-14 Last updated: 2022-11-29Bibliographically approved
MacLeod, R., Chan, F. V., Yuan, H., Ye, X., Sin, Y. J., Vitelli, T. M., . . . Cowman, M. K. (2022). Selective isolation of hyaluronan by solid phase adsorption to silica. Analytical Biochemistry, 652, Article ID 114769.
Open this publication in new window or tab >>Selective isolation of hyaluronan by solid phase adsorption to silica
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2022 (English)In: Analytical Biochemistry, ISSN 0003-2697, E-ISSN 1096-0309, Vol. 652, article id 114769Article in journal (Refereed) Published
Abstract [en]

A solid phase adsorption method for selective isolation of hyaluronan (HA) from biological samples is presented. Following enzymatic degradation of protein, HA can be separated from sulfated glycosaminoglycans, other unsulfated glycosaminoglycans, nucleic acids, and proteolytic fragments by adsorption to amorphous silica at specific salt concentrations. The adsorbed HA can be released from silica using neutral and basic aqueous solutions. HA ranging in size from ∼9 kDa to MDa polymers has been purified by this method from human serum and conditioned medium of cultured cells.

Place, publisher, year, edition, pages
Academic Press, 2022
Keywords
Conditioned medium, Glycosaminoglycan, Hyaluronan, Isolation, Serum, Silica
National Category
Medical Biotechnology (with a focus on Cell Biology (including Stem Cell Biology), Molecular Biology, Microbiology, Biochemistry or Biopharmacy)
Identifiers
urn:nbn:se:umu:diva-196536 (URN)10.1016/j.ab.2022.114769 (DOI)000815786900005 ()35660507 (PubMedID)2-s2.0-85131929748 (Scopus ID)
Funder
NIH (National Institute of Health), R43GM131444
Available from: 2022-06-14 Created: 2022-06-14 Last updated: 2023-09-05Bibliographically approved
Do, L., Granåsen, G., Hellman, U., Lejon, K., Geijer, M., Baraliakos, X., . . . Forsblad-d'Elia, H. (2021). Anti-CD74 IgA autoantibodies in radiographic axial spondyloarthritis: a longitudinal Swedish study. Rheumatology, 60(9), 4085-4093
Open this publication in new window or tab >>Anti-CD74 IgA autoantibodies in radiographic axial spondyloarthritis: a longitudinal Swedish study
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2021 (English)In: Rheumatology, ISSN 1462-0324, E-ISSN 1462-0332, Vol. 60, no 9, p. 4085-4093Article in journal (Refereed) Published
Abstract [en]

OBJECTIVES: Antibodies against anti-CD74 are related to axial spondyloarthritis (axSpA). The objectives were (i) to study IgA anti-CD74 in radiographic (r)-axSpA patients in the Backbone cohort and to calculate the sensitivity and specificity of anti-CD74, (ii) to study the fluctuation of IgA anti-CD74 levels in prospectively collected samples, and (iii) to explore the relation between IgA anti-CD74 and radiographic spinal changes.

METHODS: IgA anti-CD74 was analysed by ELISA in 155 patients with r-axSpA and age- and sex-matched controls. BASDAI, ASDAS, BASFI and BASMI were assessed and spinal radiographs were scored for r-axSpA-related changes with mSASSS. Previously donated samples, before inclusion in the Backbone study, were identified in the Medical Biobank of Northern Sweden.

RESULTS: A total of 155 patients comprising 69% men and 31% women, age [mean (s.d.)] 55.5 (11.4) years and 152 (98.1%) HLA-B27 positive, were included. The plasma level of IgA anti-CD74 was significantly higher in the patients [median (interquartile range), 12.9 (7.9-17.9) U/ml] compared with controls [10.9 (7.2-14.6) U/ml, P = 0.003]. IgA anti-CD74 was above the cut-off level of 20 U/ml in 36/155 (23.2%) patients and in 15/151 (9.9%) controls (P = 0.002). Multivariable logistic regression analyses revealed ≥1 syndesmophyte associated with IgA anti-CD74 (odds ratio 5.64; 95% CI: 1.02, 35.58; P = 0.048) adjusted for hsCRP, smoking, BMI, sex and age. No distinct pattern of IgA anti-CD74 over time was revealed.

CONCLUSION: Plasma levels of IgA anti-CD74 were increased in r-axSpA and independently associated with radiographic spinal changes, which suggests that IgA anti-CD74 could play a role in the pathogenies of r-axSpA.

Place, publisher, year, edition, pages
Oxford University Press, 2021
Keywords
IgA anti-CD74, outcomes research, radiographic axial spondyloarthritis ankylosing spondylitis
National Category
Rheumatology and Autoimmunity
Identifiers
urn:nbn:se:umu:diva-191231 (URN)10.1093/rheumatology/keaa882 (DOI)000710982100036 ()33369649 (PubMedID)2-s2.0-85114422689 (Scopus ID)
Funder
Swedish Research Council, 2016-02035Region Västerbotten, ALFVLL-640251Stiftelsen Konung Gustaf V:s 80-årsfond, FAI-2017-0454
Available from: 2022-01-17 Created: 2022-01-17 Last updated: 2023-03-23Bibliographically approved
Forsblad-D'elia, H., Hellman, U., Kumar, A. & Lejon, K. (2021). DECREASED LEVELS OF T FOLLICULAR HELPER (CD4+CXCR5+) CELLS AND CD27+CD38+ AND CD27+CD38- B CELLS IN ANKYLOSING SPONDYLITIS PATIENTS CORRELATE WITH MARKER OF INFLAMMATION. Annals of the Rheumatic Diseases, 80(Suppl 1), 13-14, Article ID OP0024.
Open this publication in new window or tab >>DECREASED LEVELS OF T FOLLICULAR HELPER (CD4+CXCR5+) CELLS AND CD27+CD38+ AND CD27+CD38- B CELLS IN ANKYLOSING SPONDYLITIS PATIENTS CORRELATE WITH MARKER OF INFLAMMATION
2021 (English)In: Annals of the Rheumatic Diseases, ISSN 0003-4967, E-ISSN 1468-2060, Vol. 80, no Suppl 1, p. 13-14, article id OP0024Article in journal, Meeting abstract (Other academic) Published
Place, publisher, year, edition, pages
BMJ Publishing Group Ltd, 2021
National Category
Immunology in the medical area Rheumatology and Autoimmunity
Identifiers
urn:nbn:se:umu:diva-188046 (URN)10.1136/annrheumdis-2021-eular.785 (DOI)000692629300024 ()
Available from: 2021-10-11 Created: 2021-10-11 Last updated: 2022-10-03Bibliographically approved
Olsson, M., Hellman, U., Wixner, J. & Anan, I. (2021). Metabolomics analysis for diagnosis and biomarker discovery of transthyretin amyloidosis. Amyloid: Journal of Protein Folding Disorders, 28(4), 234-242
Open this publication in new window or tab >>Metabolomics analysis for diagnosis and biomarker discovery of transthyretin amyloidosis
2021 (English)In: Amyloid: Journal of Protein Folding Disorders, ISSN 1350-6129, E-ISSN 1744-2818, Vol. 28, no 4, p. 234-242Article in journal (Refereed) Published
Abstract [en]

Untargeted metabolomics is a well-established technique and a powerful tool to find potential plasma biomarkers for early diagnosing hereditary transthyretin amyloidosis. Hereditary transthyretin amyloidosis (ATTRv) is a disabling and fatal disease with different clinical features such as polyneuropathy, cardiomyopathy, different gastrointestinal symptoms and renal failure. Plasma specimens collected from 27 patients with ATTRv (ATTRV30M), 26 asymptomatic TTRV30M carriers and 26 control individuals were subjected to gas chromatography (GC)- and liquid chromatography (LC)-mass spectrometry (MS)-based metabolomics analysis. Partial least squares discriminant and univariate analysis was used to analyse the data. The models constructed by Partial least squares-discriminant analysis (PLS-DA) could clearly discriminate ATTRV30M patients from controls and asymptomatic TTRV30M carriers. In total, 24 plasma metabolites (VIP > 1.0 and p <.05) were significantly altered in ATTRV30M patient group (6 increased and 18 decreased). Eleven of these distinguished the ATTRV30M group from both controls and TTRV30M carriers. Plasma metabolomics analysis revealed marked changes in several pathways in patients with ATTRV30M amyloidosis. Statistical analysis identified a panel of biomarkers that could effectively separate controls/TTRV30M carriers from ATTRV30M patients. These biomarkers can potentially be used to diagnose patients at an early stage of the disease.

Place, publisher, year, edition, pages
Taylor & Francis Group, 2021
Keywords
Amyloidosis, biomarker, hereditary, mass spectrometry, metabolomics, transthyretin
National Category
Other Basic Medicine Gastroenterology and Hepatology
Identifiers
urn:nbn:se:umu:diva-186540 (URN)10.1080/13506129.2021.1958775 (DOI)000678456100001 ()2-s2.0-85111696674 (Scopus ID)
Available from: 2021-08-23 Created: 2021-08-23 Last updated: 2022-07-14Bibliographically approved
Mörner, S., Carlberg, B., Rydberg, A., Jensen, S. M., Lundström, A., Nyberg, P., . . . Näslund, U. (2021). Ärftliga hjärt–kärlsjukdomar – ett multidisciplinärt arbetssätt krävs: [Experiences from a multidisciplinary cardiogenetic clinic]. Läkartidningen, 118(40), Article ID 21083.
Open this publication in new window or tab >>Ärftliga hjärt–kärlsjukdomar – ett multidisciplinärt arbetssätt krävs: [Experiences from a multidisciplinary cardiogenetic clinic]
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2021 (Swedish)In: Läkartidningen, ISSN 0023-7205, E-ISSN 1652-7518, Vol. 118, no 40, article id 21083Article in journal (Refereed) Published
Abstract [sv]

Comprehensive genetic and clinical care of families with monogenic cardiovascular diseases requires competences from different medical specialties. Genetic assessment, cascade screening, risk estimation, treatment and follow-up is difficult to cover. Fourteen years ago, a center for cardiovascular diseases was created in our hospital, to improve the care of families with monogenic cardiovascular diseases. At our center, clinical geneticists, cardiologists, angiologists, pediatric cardiologists and genetic counselors work together in a seamless organization, while still having different clinic affiliations. A key feature of this organization are the family outpatient clinics, where the proband and his/her relatives at genetic risk are invited to take part. When the family or relatives live in other parts of the country, they are invited to participate through video conference.  In this paper we report our experiences and working routines from more than 300 families and 2000 individuals.

Place, publisher, year, edition, pages
Läkartidningen Förlag AB, 2021
National Category
Pediatrics
Identifiers
urn:nbn:se:umu:diva-207943 (URN)35043387 (PubMedID)
Available from: 2023-05-05 Created: 2023-05-05 Last updated: 2023-05-05Bibliographically approved
Organisations
Identifiers
ORCID iD: ORCID iD iconorcid.org/0000-0002-3822-0725

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