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Lindahl, H., Kahn, F., Nilsdotter-Augustinsson, Å., Fredrikson, M., Hedberg, P., Killander Möller, I., . . . Bergman, P. (2025). Inborn errors of immunity are associated with increased COVID-19–related hospitalization and intensive care compared to the general population. Journal of Allergy and Clinical Immunology, 155(2), 387-397.e6
Open this publication in new window or tab >>Inborn errors of immunity are associated with increased COVID-19–related hospitalization and intensive care compared to the general population
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2025 (English)In: Journal of Allergy and Clinical Immunology, ISSN 0091-6749, E-ISSN 1097-6825, Vol. 155, no 2, p. 387-397.e6Article in journal (Refereed) Published
Abstract [en]

Background: It is thought that patients with inborn errors of immunity (IEI) are more susceptible to severe coronavirus disease 2019 (COVID-19) than the general population, but a quantification of this potential risk is largely missing.

Objective: We assessed the impact of COVID-19 on patients with IEI.

Methods: A nationwide cohort study was performed to estimate the relative risk (RR) for hospitalization, intensive care, and death within 30 days after a positive severe acute respiratory syndrome coronavirus 2 test result in an IEI population (n = 2392) compared to the general population (n = 8,270,705) using data from Swedish national registries. Three time periods were studied: the prevaccination period, and the Alpha/Delta and Omicron periods. Adjustment was made for demographics, income, comorbidities, and vaccination status.

Results: During the prevaccination period, 25.2% of the IEI population was hospitalized, compared to 17.5% and 5.2% during the Alpha/Delta and Omicron periods, respectively. For the 3 time periods, the adjusted RR [95% confidence interval] for hospitalization in the IEI population compared to the general population was 3.1 [2.1-4.2], 3.5 [2.4-4.8], and 4.3 [2.5-6.7], respectively. The respective values for intensive care after COVID-19 were 5.6 [2.6-10.8], 4.7 [1.7-10.1], and 4.7 [1.7-10.1] for the 3 periods. Five patients (0.6%) in the IEI population died within 30 days of a positive PCR test result compared to 18,773 (0.2%) in the general population during the 3 study periods.

Conclusion: Patients with IEI had a 3 to 4 times higher risk for hospitalization and a 5 times higher risk for intensive care during COVID-19 compared to the general population.

Place, publisher, year, edition, pages
Elsevier, 2025
Keywords
COVID-19; Inborn errors of immunity; cohort study; hospitalization; intensive care; population controls
National Category
Public Health, Global Health and Social Medicine
Identifiers
urn:nbn:se:liu:diva-211248 (URN)10.1016/j.jaci.2024.10.013 (DOI)001423017800001 ()39447887 (PubMedID)2-s2.0-85209149506 (Scopus ID)
Funder
Swedish Research Council
Note

Funding Agencies|Swedish Research Council [2021-04779]

Available from: 2025-01-29 Created: 2025-01-29 Last updated: 2025-05-14
Holmbom, M., Forsberg, J., Fredrikson, M., Nilsson, M., Nilsson, L., Hanberger, H. & Hällgren, A. (2023). Fluoroquinolone-resistant Escherichia coli among the rectal flora is the predominant risk factor for severe infection after transrectal ultrasound-guided prostate biopsy: a prospective observational study. Scandinavian journal of urology, 58, 32-37
Open this publication in new window or tab >>Fluoroquinolone-resistant Escherichia coli among the rectal flora is the predominant risk factor for severe infection after transrectal ultrasound-guided prostate biopsy: a prospective observational study
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2023 (English)In: Scandinavian journal of urology, ISSN 2168-1805, E-ISSN 2168-1813, Vol. 58, p. 32-37Article in journal (Refereed) Published
Abstract [en]

BACKGROUND: Infection of the prostate gland following biopsy, usually with Escherichia coli, is a common complication, despite the use of antimicrobial prophylaxis. A fluoroquinolone (FQ) is commonly prescribed as prophylaxis. Worryingly, the rate of fluoroquinolone-resistant (FQ-R) E. coli species has been shown to be increasing. OBJECTIVE: This study aimed to identify risk factors associated with infection after transrectal ultrasound-guided prostate biopsy (TRUS-Bx). METHODS: This was a prospective study on patients undergoing TRUS-Bx in southeast Sweden. Prebiopsy rectal and urine cultures were obtained, and antimicrobial susceptibility and risk-group stratification were determined. Multivariate analyses were performed to identify independent risk factors for post-biopsy urinary tract infection (UTI) and FQ-R E. coli in the rectal flora. RESULTS: In all, 283 patients were included, of whom 18 (6.4%) developed post-TRUS-Bx UTIs. Of these, 10 (3.5%) had an UTI without systemic inflammatory response syndrome (SIRS) and 8 (2.8%) had a UTI with SIRS. Being in the medium- or high-risk groups of infectious complications was not an independent risk factor for UTI with SIRS after TRUS-Bx, but low-level FQ-resistance (minimum inhibitory concentration (MIC): 0.125-0.25 mg/L) or FQ-resistance (MIC > 0.5 mg/L) among E. coli in the faecal flora was. Risk for SIRS increased in parallel with increasing degrees of FQ-resistance. Significant risk factor for harbouring FQ-R E.coli was travelling outside Europe within the previous 12 months. CONCLUSION: The predominant risk factor for UTI with SIRS after TRUS-Bx was FQ-R E. coli among the faecal flora. The difficulty in identifying this type of risk factor demonstrates a need for studies on the development of a general approach either with rectal swab culture for targeted prophylaxis, or prior rectal preparation with a bactericidal agent such as povidone-iodine before TRUS-Bx to reduce the risk of FQ-R E. coli-related infection.

Place, publisher, year, edition, pages
Medical Journals Sweden, 2023
Keywords
Anti-Bacterial Agents; Antibiotic Prophylaxis; Biopsy; Drug Resistance, Bacterial; Escherichia coli; Escherichia coli Infections; Fluoroquinolones; Humans; Image-Guided Biopsy; Male; Prospective Studies; Prostate; Rectum; Risk Factors; Systemic Inflammatory Response Syndrome; Ultrasonography, Interventional; Urinary Tract Infections; antiinfective agent; quinolone derivative; antibiotic prophylaxis; antibiotic resistance; biopsy; Escherichia coli; Escherichia coli infection; human; image guided biopsy; interventional ultrasonography; male; pathology; prospective study; prostate; rectum; risk factor; systemic inflammatory response syndrome; urinary tract infection
National Category
Infectious Medicine
Identifiers
urn:nbn:se:liu:diva-200771 (URN)10.2340/sju.v58.11920 (DOI)001135085300015 ()37553957 (PubMedID)2-s2.0-85167371093 (Scopus ID)
Available from: 2024-02-07 Created: 2024-02-07 Last updated: 2024-12-02
Grundström, H., Fredrikson, M., Alehagen, S., Berterö, C. & Kjölhede, P. (2023). Incidence of self-reported pelvic pain and risk factors for pain 1 year after benign hysterectomy: A register study from the Swedish National Quality Registry for Gynecological Surgery. Acta Obstetricia et Gynecologica Scandinavica, 102(10), 1359-1370
Open this publication in new window or tab >>Incidence of self-reported pelvic pain and risk factors for pain 1 year after benign hysterectomy: A register study from the Swedish National Quality Registry for Gynecological Surgery
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2023 (English)In: Acta Obstetricia et Gynecologica Scandinavica, ISSN 0001-6349, E-ISSN 1600-0412, Vol. 102, no 10, p. 1359-1370Article in journal (Refereed) Published
Abstract [en]

Introduction The primary aim of this study was to determine the incidence of patient-reported pain 1 year after hysterectomy for benign gynecological conditions in relation to occurrence of preoperative pain. The secondary aim was to analyze clinical risk factors for pain 1 year after the hysterectomy in women with and without preoperatively reported pelvic/lower abdominal pain. Material and methods This was a historical cohort study using data from the Swedish National Quality Registry for Gynecological Surgery on 16 694 benign hysterectomies. Data were analyzed using multivariable logistic regression models. Results One year after surgery, 22.4% of women with preoperative pain reported pelvic pain and 7.8% reported de novo pelvic pain. For those with preoperative pain younger age (adjusted odds ratio [aOR] 1.75, 95% confidence interval [CI] 1.38-2.23 and aOR 1.21, 95% CI 1.10-1.34 for women aged <35 and 35-44 years, respectively), not being gainfully employed (aOR 1.43, 95% CI 1.26-1.63), pelvic pain as the main symptom leading to hysterectomy (aOR 1.51, 95% CI 1.19-1.90), endometriosis (aOR 1.18, 95% CI 1.06-1.31), and laparoscopic hysterectomy (aOR 1.30, 95% CI 1.07-1.58), were clinically relevant independent risk factors for pelvic/lower abdominal pain 1 year after surgery, as were postoperative complications within 8 weeks after discharge. Meanwhile, clinically relevant independent risk factors for reporting de novo pain 1 year after surgery were younger age (aOR 2.05, 95% CI 1.08-3.86 and aOR 1.29, 95% CI 1.04-1.60 for women aged <35 and 35-44 years, respectively), and postoperative complications within 8 weeks after discharge. Conclusions The incidence of pelvic pain and de novo pain 1 year after hysterectomy was relatively high. Women with and without reported preoperative pelvic/lower abdominal pain represented clinically different populations. The risk factors for pelvic pain seemed to differ in these two populations. The differences in risk factors could be taken into consideration in the preoperative counseling and in the decision-making concerning method of hysterectomy, provided that large well-designed studies confirm these risk factors.

Place, publisher, year, edition, pages
Wiley, 2023
Keywords
epidemiology; hysterectomy; incidence; lower abdominal pain; pelvic pain; risk factors
National Category
General Practice
Identifiers
urn:nbn:se:liu:diva-188576 (URN)10.1111/aogs.14455 (DOI)000852493100001 ()36073635 (PubMedID)
Note

Funding Agencies|County council of Ostergotland; Linkoping University

Available from: 2022-09-19 Created: 2022-09-19 Last updated: 2024-05-02Bibliographically approved
Steinvall, I., Elmasry, M., Abdelrahman, I., El-Serafi, A. T., Fredrikson, M. & Sjöberg, F. (2022). ABO blood group and effects on ventilatory time, length of stay and mortality in major burns a retrospective observational outcome study. Burns, 48(4), 785-790
Open this publication in new window or tab >>ABO blood group and effects on ventilatory time, length of stay and mortality in major burns a retrospective observational outcome study
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2022 (English)In: Burns, ISSN 0305-4179, E-ISSN 1879-1409, Vol. 48, no 4, p. 785-790Article in journal (Refereed) Published
Abstract [en]

Blood group has been found to be important in the development of many diseases and the outcome of several disease processes, especially cardiovascular morbidity and mortality, such as caused by trauma and sepsis. The main reason is claimed to be related to glycobiology and effects mediated through the endothelium. This study investigated the possible effect of blood group (ABO) on burn care outcome. Burn outcome prediction models are extremely accurate and as such can be used to identify outcome effects even in single centre settings. In this retrospective risk adjusted observational study, we investigated the effect of ABO blood group on ventilatory time, length of hospital stay (LOS), and 90 day mortality among patients with burns. RESULTS: A total of 225 patients were included (2008-2019) with median TBSA of 26%; interquartile range (IQR) of 20-37%; median age 45 years (IQR 22-65 years); median Baux score (age + TBSA%); 76 (IQR 53- 97); 168 (75%) were male; median duration of hospital stay was 31 days (IQR 19-56); a total of 138 (61%) received treatment with mechanical ventilation; and 29 (13%) died. In a multivariable regression model, we were unable to isolate any significant effect of any blood group (O, A, B, AB) on the outcome measures studied (ventilatory time, LOS, and mortality). IN SUMMARY: contrary to many other major areas of disease in which ABO blood groups affect outcome, we were unable to find any such effect on patients with burns. Given the precision of the outcome models presented (AUC 0.93) any such an effect, if missed due to the limited study cohort, may be considered limited and to have only a minor clinical impact.

Place, publisher, year, edition, pages
Oxford, United Kingdom: Elsevier, 2022
Keywords
ICU; Large burns; Mortality prediction; Survival; Total Body Surface area burned (TBSA %)
National Category
Surgery
Identifiers
urn:nbn:se:liu:diva-183534 (URN)10.1016/j.burns.2022.02.001 (DOI)000833489400007 ()35227532 (PubMedID)2-s2.0-85125505549 (Scopus ID)
Note

Funding agencies: Carnegie foundation (Stockholm, Sweden); Queen Victoria Foundation (Stockholm, Sweden); Department of Hand Surgery, Plastic Surgery and Burns, Linkoping University Hospital; Linkoping University Linkoping, Sweden

Available from: 2022-03-17 Created: 2022-03-17 Last updated: 2024-01-10Bibliographically approved
Lukas, P., Gerdle, B., Nilsson, L., Borendal Wodlin, N., Fredrikson, M., Arendt-Nielsen, L. & Kjölhede, P. (2022). Association Between Experimental Pain Thresholds and Trajectories of Postoperative Recovery Measures After Benign Hysterectomy. Journal of Pain Research, 15, 3657-3674
Open this publication in new window or tab >>Association Between Experimental Pain Thresholds and Trajectories of Postoperative Recovery Measures After Benign Hysterectomy
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2022 (English)In: Journal of Pain Research, E-ISSN 1178-7090, Vol. 15, p. 3657-3674Article in journal (Refereed) Published
Abstract [en]

Purpose: Quantitative sensory testing (QST) can be applied to quantify the sensitivity to different painful stimuli. This study aims to evaluate the association between preoperative pressure and thermal pain thresholds and trajectories of measurements of postoperative recovery (patient-reported daily maximum and average pain intensity, sum score of symptoms, and analgesic consumption) after benign hysterectomy.Patients and Methods: A prospective, longitudinal single-blinded, observational multicenter study was conducted in five hospitals in the southeast of Sweden between 2011 and 2017. A total of 406 women scheduled for abdominal or vaginal hysterectomy for benign conditions were enrolled in the study. QST measuring pressure (PPT), heat (HPT), and cold pain thresholds (CPT) were performed preoperatively. The cut-off levels for dichotomizing the pain thresholds (low/high) were set at the 25-percentile for PPT and HPT and the 75-percentile for CPT. The Swedish Postoperative Symptom Questionnaire was used to measure postoperative pain and other symptoms of discomfort (symptom sum score) on 13 occasions for six weeks postoperatively. Daily analgesic consumption of opioids and non-opioids was registered.Results: A CPT above the 75-percentile was associated with high postoperative maximum pain intensity (p = 0.04), high symptom sum score (p = 0.03) and greater consumption of non-opioids (p = 0.03). A HPT below the 25-percentile was only associated with greater consumption of non-opioids (p = 0.02). PPT was not associated with any of the outcome measures.Conclusion: CPT seemed to be predictive for postoperative pain and symptoms of discomfort after benign hysterectomy. Preoperative QST may be used to individualize the management of postoperative recovery for low pain threshold individuals.

Place, publisher, year, edition, pages
Dove Medical Press LTD, 2022
Keywords
hysterectomy; quantitative sensory testing; postoperative symptoms; postoperative recovery; pressure and thermal pain thresholds
National Category
Physiotherapy
Identifiers
urn:nbn:se:liu:diva-190505 (URN)10.2147/JPR.S383795 (DOI)000890491000001 ()36447527 (PubMedID)
Note

Funding Agencies|Medical Research Council of Southeast Sweden [FORSS-228581, FORSS-308471, FORSS-387681, FORSS-482051]; Region OEstergoetland Council (ALF grants) [ROE-200641, ROE-276871, ROE-35651, ROE-448391, ROE-540551, ROE-607891, ROE-699021, ROE-794531, ROE-931528, ROE-936208, ROE-968764]; Linkoeping University; Danish National Research Foundation [DNRF121]

Available from: 2022-12-13 Created: 2022-12-13 Last updated: 2025-02-13
Engvall, K., Gréen, H., Fredrikson, M., Lagerlund, M., Lewin, F. & Åvall-Lundqvist, E. (2022). Impact of persistent peripheral neuropathy on health-related quality of life among early-stage breast cancer survivors: a population-based cross-sectional study. Breast Cancer Research and Treatment, 195, 379-391
Open this publication in new window or tab >>Impact of persistent peripheral neuropathy on health-related quality of life among early-stage breast cancer survivors: a population-based cross-sectional study
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2022 (English)In: Breast Cancer Research and Treatment, ISSN 0167-6806, E-ISSN 1573-7217, Vol. 195, p. 379-391Article in journal (Refereed) Published
Abstract [en]

Background We explored the impact of persistent sensory and motor taxane-induced peripheral neuropathy (TIPN) symptoms on health-related quality of life (HRQL) among early-stage breast cancer survivors (ESBCS). Methods A population-based cohort of 884 residual-free ESBCS received a postal questionnaire, including the EORTC chemotherapy-induced PN (CIPN20) and the EORTC QLQ-C30 instruments. Mean scores of QLQ-C30 scales among ESBCS with and without TIPN were calculated and adjusted for confounding factors (age, lifestyle factors, co-morbidities; linear regression analyses). Interpretation of QLQ-C30 results were based on guidelines. Results Response rate was 79%, and 646 survivors were included in the analysis. In median, 3.6 (1.5-7.3) years had elapsed post-taxane treatment. All TIPN symptoms had a significant impact on global QoL, which worsened with increased severity of TIPN. Between 29.5% and 93.3% of ESBCS with moderate-severe TIPN reported a clinical important impairment of functioning and personal finances, 64.3-85.7% reporting "difficulty walking because of foot drop," and 53.1-81.3% reporting "problems standing/walking because of difficulty feeling ground under feet" had impaired functioning/finances. The difference in mean scores between affected and non-affected survivors was highest for "numbness in toes/feet" and "difficulty walking because of foot drop." Moderate-severe "difficulty climbing stairs or getting out of chair because of weakness of legs" and "problems standing/walking because of difficulty feeling ground under feet" were associated with the largest clinically important differences on all scales. Conclusion Persistent sensory and motor TIPN is associated with clinically relevant impairment of global QoL, functioning, and personal finances among ESBCS, which increased with level of TIPN severity.

Place, publisher, year, edition, pages
Springer, 2022
Keywords
Adjuvant therapy; Chemotherapy; Taxane; Chemotherapy-Induced Peripheral Neuropathy CIPN; Taxane-induced peripheral neuropathy; Survivorship; Breast cancer survivorship; QLQ-C30; CIPN20; Quality of life; Health-related quality of life; Functional health; Financial toxicity
National Category
Public Health, Global Health and Social Medicine
Identifiers
urn:nbn:se:liu:diva-187717 (URN)10.1007/s10549-022-06670-9 (DOI)000837571200001 ()35941422 (PubMedID)
Note

Funding Agencies|Linkoping University; Swedish Cancer Society [190224]; Medical Research Council of Southeast Sweden [FORSS-932359]; FuturumThe Academy for Health and Care, Jonkoping County Council [575361]; Forsknings-ALF [LIO-901261]

Available from: 2022-08-29 Created: 2022-08-29 Last updated: 2025-02-20Bibliographically approved
Ågren, S., Eriksson, A., Fredrikson, M., Hollman Frisman, G. & Orwelius, L. (2021). Health Promoting Conversation – A novel approach to families experience critical illness. In: : . Paper presented at 5th Nordic Conference in Family Focused Nursing.
Open this publication in new window or tab >>Health Promoting Conversation – A novel approach to families experience critical illness
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2021 (English)Conference paper, Oral presentation only (Other academic)
National Category
Nursing
Identifiers
urn:nbn:se:liu:diva-201368 (URN)
Conference
5th Nordic Conference in Family Focused Nursing
Available from: 2024-03-05 Created: 2024-03-05 Last updated: 2024-03-13Bibliographically approved
Westlund Firchal, E. W., Sjöberg, F., Fredrikson, M., Pompermaier, L., Elmasry, M. & Steinvall, I. (2021). Long-term survival among elderly after burns compared with national mean remaining life expectancy. Burns, 47(6), 1252-1258
Open this publication in new window or tab >>Long-term survival among elderly after burns compared with national mean remaining life expectancy
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2021 (English)In: Burns, ISSN 0305-4179, E-ISSN 1879-1409, Vol. 47, no 6, p. 1252-1258Article in journal (Refereed) Published
Abstract [en]

INTRODUCTION: As compared to younger adults, older people have a greater risk of domestic accidents, such as burns, and their prognosis is worsened by a diminished physiological ability to face a thermal trauma. The in-hospital mortality is adversely affected by old age and burn size, whereas less is known about the long-term-survival in elderly patients who survive a burn injury. The aim of this study was to investigate if elderly burn patients after discharge from a Swedish National Burn Centre have a shorter remaining life compared to the national population, by using calculated remaining Life Expectancy (rLE).

METHODS: In this retrospective study we included all patients who were admitted for burns to the Linköping Burn Centre during 1993-2016 and who were 60 years or older and alive, at the time of discharge. The control group was extracted from Statistics Sweden, the national statistics database, and consisted of all individuals from the Swedish population matched for each patient in the study group, by sex and age at the year of discharge. The proportion who died before reaching the rLE was compared between the study population and the control group by calculating risk ratio.

RESULTS: The study group consisted of 111 former patients and 77 of them (69%) died before reaching the rLE, with mean 4.7 years of life lost (YLL), which was 33% more than that (52%) of the control group (RR 1.33, 95% CI 1.18-1.51). Burn related factors, such as TBSA % or FTB % were not found to account for this effect.

CONCLUSION: We found that the long-time survival of elderly patients after burns is shorter than that of a national control, the magnitude of which is quantitatively important. The current study does not support that burn related factors account for this effect and the reason should therefore be sought in other factors, such as e.g., co-morbidity or psychosocial issues.

Place, publisher, year, edition, pages
Elsevier, 2021
Keywords
Burns, Long time survival, Remaining life expectancy, Years of life lost
National Category
Surgery
Identifiers
urn:nbn:se:liu:diva-176401 (URN)10.1016/j.burns.2021.05.012 (DOI)000691216600004 ()34103200 (PubMedID)
Note

Funding agencies: The Carnegie foundation; King Gustaf the 5th and Queen Victoria Foundation; Department of Hand Surgery, Plastic Surgery and Burns; Linköping University, Linköping, Sweden

Available from: 2021-06-11 Created: 2021-06-11 Last updated: 2021-12-28Bibliographically approved
Holmbom, M., Andersson, M., Berg, S., Eklund, D., Sobczynski, P., Wilhelms, D., . . . Hanberger, H. (2021). Prehospital delay is an important risk factor for mortality in community-acquired bloodstream infection (CA-BSI): a matched case–control study. BMJ Open, 11(11), Article ID e052582.
Open this publication in new window or tab >>Prehospital delay is an important risk factor for mortality in community-acquired bloodstream infection (CA-BSI): a matched case–control study
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2021 (English)In: BMJ Open, E-ISSN 2044-6055, Vol. 11, no 11, article id e052582Article in journal (Refereed) Published
Abstract [en]

Objectives The aim of this study was to identify prehospital and early hospital risk factors associated with 30-day mortality in patients with blood culture-confirmed community-acquired bloodstream infection (CA-BSI) in Sweden.

Methods A retrospective case–control study of 1624 patients with CA-BSI (2015–2016), 195 non-survivors satisfying the inclusion criteria were matched 1:1 with 195 survivors for age, gender and microorganism. All forms of contact with a healthcare provider for symptoms of infection within 7 days prior CA-BSI episode were registered. Logistic regression was used to analyse risk factors for 30-day all-cause mortality.

Results Of the 390 patients, 61% (115 non-survivors and 121 survivors) sought prehospital contact. The median time from first prehospital contact till hospital admission was 13 hours (6–52) for non-survivors and 7 hours (3–24) for survivors (p<0.01). Several risk factors for 30-day all-cause mortality were identified: prehospital delay OR=1.26 (95% CI: 1.07 to 1.47), p<0.01; severity of illness (Sequential Organ Failure Assessment score) OR=1.60 (95% CI: 1.40 to 1.83), p<0.01; comorbidity score (updated Charlson Index) OR=1.13 (95% CI: 1.05 to 1.22), p<0.01 and inadequate empirical antimicrobial therapy OR=3.92 (95% CI: 1.64 to 9.33), p<0.01. In a multivariable model, prehospital delay >24 hours from first contact remained an important risk factor for 30-day all-cause mortality due to CA-BSI OR=6.17 (95% CI: 2.19 to 17.38), p<0.01.

Conclusion Prehospital delay and inappropriate empirical antibiotic therapy were found to be important risk factors for 30-day all-cause mortality associated with CA-BSI. Increased awareness and earlier detection of BSI in prehospital and early hospital care is critical for rapid initiation of adequate management and antibiotic treatment.All data relevant to the study are included in the article or uploaded as supplemental information.

Place, publisher, year, edition, pages
BMJ Publishing Group Ltd, 2021
Keywords
adult intensive & critical care; accident & emergency medicine; public health; infectious diseases; primary care
National Category
Cardiology and Cardiovascular Disease
Identifiers
urn:nbn:se:liu:diva-181405 (URN)10.1136/bmjopen-2021-052582 (DOI)000720985600005 ()34794994 (PubMedID)
Funder
Region Östergötland
Note

Funding: Ostergotland Count Council

Available from: 2021-11-24 Created: 2021-11-24 Last updated: 2025-02-10Bibliographically approved
Gustafsson Bragde, H., Jansson, U., Fredrikson, M., Grodzinsky, E. & Söderman, J. (2020). Characterisation of gene and pathway expression in stabilised blood from children with coeliac disease. BMJ Open Gastroenterology, 7(1), Article ID e000536.
Open this publication in new window or tab >>Characterisation of gene and pathway expression in stabilised blood from children with coeliac disease
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2020 (English)In: BMJ Open Gastroenterology, E-ISSN 2054-4774, Vol. 7, no 1, article id e000536Article in journal (Refereed) Published
Abstract [en]

INTRODUCTION: A coeliac disease (CD) diagnosis is likely in children with levels of tissue transglutaminase autoantibodies (anti-TG2) >10 times the upper reference value, whereas children with lower anti-TG2 levels need an intestinal biopsy to confirm or rule out CD. A blood sample is easier to obtain than an intestinal biopsy sample, and stabilised blood is suitable for routine diagnostics because transcript levels are preserved at sampling. Therefore, we investigated gene expression in stabilised whole blood to explore the possibility of gene expression-based diagnostics for the diagnosis and follow-up of CD.

DESIGN: We performed RNA sequencing of stabilised whole blood from active CD cases (n=10), non-CD cases (n=10), and treated CD cases on a gluten-free diet (n=10) to identify diagnostic CD biomarkers and pathways involved in CD pathogenesis.

RESULTS: No single gene was differentially expressed between the sample groups. However, by using gene set enrichment analysis (GSEA), significantly differentially expressed pathways were identified in active CD, and these pathways involved the inflammatory response, negative regulation of viral replication, translation, as well as cell proliferation, differentiation, migration, and survival. The results indicate that there are differences in pathway regulation in CD, which could be used for diagnostic purposes. Comparison between GSEA results based on stabilised blood with GSEA results based on small intestinal biopsies revealed that type I interferon response, defence response to virus, and negative regulation of viral replication were identified as pathways common to both tissues.

CONCLUSIONS: Stabilised whole blood is not a suitable sample for clinical diagnostics of CD based on single genes. However, diagnostics based on a pathway-focused gene expression panel may be feasible, but requires further investigation.

Keywords
coeliac disease, gene expression, molecular biology
National Category
Clinical Laboratory Medicine Medical Genetics and Genomics
Identifiers
urn:nbn:se:liu:diva-172072 (URN)10.1136/bmjgast-2020-000536 (DOI)000600196500002 ()33323471 (PubMedID)
Note

Funding agencies: Futurum-the Academy for Health and Care, Region Jonkoping County; Medical Research Council of Southeast Sweden

Available from: 2020-12-21 Created: 2020-12-21 Last updated: 2025-02-10Bibliographically approved
Organisations
Identifiers
ORCID iD: ORCID iD iconorcid.org/0000-0003-3067-8587

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