| 1. |
- Stray-Pedersen, Asbjorg, et al.
(författare)
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Primary immunodeficiency diseases : Genomic approaches delineate heterogeneous Mendelian disorders
- 2017
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Ingår i: Journal of Allergy and Clinical Immunology. - : MOSBY-ELSEVIER. - 0091-6749 .- 1097-6825. ; 139:1, s. 232-245
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Tidskriftsartikel (refereegranskat)abstract
- Background: Primary immunodeficiency diseases (PIDDs) are clinically and genetically heterogeneous disorders thus far associated with mutations in more than 300 genes. The clinical phenotypes derived from distinct genotypes can overlap. Genetic etiology can be a prognostic indicator of disease severity and can influence treatment decisions. Objective: We sought to investigate the ability of whole-exome screening methods to detect disease-causing variants in patients with PIDDs. Methods: Patients with PIDDs from 278 families from 22 countries were investigated by using whole-exome sequencing. Computational copy number variant (CNV) prediction pipelines and an exome-tiling chromosomal microarray were also applied to identify intragenic CNVs. Analytic approaches initially focused on 475 known or candidate PIDD genes but were nonexclusive and further tailored based on clinical data, family history, and immunophenotyping. Results: A likely molecular diagnosis was achieved in 110 (40%) unrelated probands. Clinical diagnosis was revised in about half (60/ 110) and management was directly altered in nearly a quarter (26/ 110) of families based on molecular findings. Twelve PIDD-causing CNVs were detected, including 7 smaller than 30 Kb that would not have been detected with conventional diagnostic CNV arrays. Conclusion: This high-throughput genomic approach enabled detection of disease-related variants in unexpected genes; permitted detection of low-grade constitutional, somatic, and revertant mosaicism; and provided evidence of a mutational burden in mixed PIDD immunophenotypes.
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| 2. |
- Gillespie, B. M., et al.
(författare)
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Worldwide incidence of surgical site infections in general surgical patients: A systematic review and meta-analysis of 488,594 patients
- 2021
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Ingår i: International Journal of Surgery. - : Ovid Technologies (Wolters Kluwer Health). - 1743-9191. ; 95
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Tidskriftsartikel (refereegranskat)abstract
- Background: Establishing worldwide incidence of general surgical site infections (SSI) is imperative to understand the extent of the condition to assist decision-makers to improve the planning and delivery of surgical care. This systematic review and meta-analysis aimed to estimate the worldwide incidence of SSI and identify associated factors in adult general surgical patients. Materials and methods: A systematic review was undertaken using MEDLINE (Ovid), CINAHL (EBSCO), EMBASE (Elsevier) and the Cochrane Library to identify cross-sectional, cohort and observational studies reporting SSI incidence or prevalence. Studies of less than 50 participants were excluded. Data extraction and quality appraisal were undertaken independently by two review authors. The primary outcome was cumulative incidence of SSI occurring up to 30 days postoperative. The secondary outcome was the severity/depth of SSI. The I2 statistic was used to explore heterogeneity. Random effects models were used in the presence of substantial heterogeneity. Subgroup, meta-regression sensitivity analyses were used to explore the sources of heterogeneity. Publication bias was assessed using Hunter's plots and Egger's regression test. Results: Of 2091 publications retrieved, 62 studies were included. Of these, 57 were included in the meta-analysis across six anatomical locations with 488,594 patients. The pooled 30-day cumulative incidence of SSI was 11% (95% CI 10%–13%). No prevalence data were identified. SSI rates varied across anatomical location, surgical approach, and priority (i.e., planned, emergency). Multivariable meta-regression showed SSI is significantly associated with duration of surgery (estimate 1.01, 95% CI 1.00–1.02, P = .014). Conclusions: and Relevance: 11 out of 100 general surgical patients are likely to develop an infection 30 days after surgery. Given the imperative to reduce the burden of harm caused by SSI, high-quality studies are warranted to better understand the patient and related risk factors associated with SSI. © 2021 IJS Publishing Group Ltd
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| 3. |
- Tobiano, G., et al.
(författare)
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Development and validation of a survey designed to measure patient experience of and preference for surgical wound care discharge education: A pilot study
- 2023
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Ingår i: Journal of Tissue Viability. - 0965-206X. ; 32:3, s. 442-448
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Tidskriftsartikel (refereegranskat)abstract
- Aim of the study: To develop and undertake validation testing of a survey designed to measure patients' experiences of and preferences for surgical wound care discharge education.Materials and methods: A literature review and content analysis was undertaken on patients' experiences of and preferences for surgical wound care discharge education. Four themes were uncovered in the literature (wound care discharge education, preferences for discharge education delivery, participation in wound care decisions and patient ability to manage their surgical wound to prevent wound complications), which guided item generation. Three types of validity testing occurred including: 1) face validity testing by the research team; 2) content validity testing (using Delphi study) with an international panel of experts including patients, clinicians and researchers; and 3) content validity (using pilot-testing) of the survey with seven patients from the target population.Results: Initially 106 items were generated from the literature, and of these, 55 items were subjected to content validity testing by an international panel of 41 experts. After two Delphi rounds, 18 items were retained. Most patients provided limited and very minor feedback during pilot-testing. However, pilot-testing resulted in a revised survey administration plan to deliver the survey via telephone, including adding prompts and preambles to items.
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| 4. |
- Juul, FE, et al.
(författare)
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Rates of repeated colonoscopies to clean the colon from low-risk and high-risk adenomas: results from the EPoS trials
- 2023
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Ingår i: Gut. - : BMJ. - 1468-3288 .- 0017-5749. ; 72:5, s. 951-957
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Tidskriftsartikel (refereegranskat)abstract
- High-quality colonoscopy (adequate bowel preparation, whole-colon visualisation and removal of all neoplastic polyps) is a prerequisite to start polyp surveillance, and is ideally achieved in one colonoscopy. In a large multinational polyp surveillance trial, we aimed to investigate clinical practice variation in number of colonoscopies needed to enrol patients with low-risk and high-risk adenomas in polyp surveillance.DesignWe retrieved data of all patients with low-risk adenomas (one or two tubular adenomas <10 mm with low-grade dysplasia) and high-risk adenomas (3–10 adenomas, ≥1 adenoma ≥10 mm, high-grade dysplasia or villous components) in the European Polyp Surveillance trials fulfilling certain logistic and methodologic criteria. We analysed variations in number of colonoscopies needed to achieve high-quality colonoscopy and enter polyp surveillance by endoscopy centre, and by endoscopists who enrolled ≥30 patients.ResultsThe study comprised 15 581 patients from 38 endoscopy centres in five European countries; 6794 patients had low-risk and 8787 had high-risk adenomas. 961 patients (6.2%, 95% CI 5.8% to 6.6%) underwent two or more colonoscopies before surveillance began; 101 (1.5%, 95% CI 1.2% to 1.8%) in the low-risk group and 860 (9.8%, 95% CI 9.2% to 10.4%) in the high-risk group. Main reasons were poor bowel preparation (21.3%) or incomplete colonoscopy/polypectomy (14.4%) or planned second procedure (27.8%). Need of repeat colonoscopy varied between study centres ranging from 0% to 11.8% in low-risk adenoma patients and from 0% to 63.9% in high-risk adenoma patients. On the second colonoscopy, the two most common reasons for a repeat (third) colonoscopy were piecemeal resection (26.5%) and unspecified reason (23.9%).ConclusionThere is considerable practice variation in the number of colonoscopies performed to achieve complete polyp removal, indicating need for targeted quality improvement to reduce patient burden.Trial registration numberNCT02319928.
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| 5. |
- Lam, MT, et al.
(författare)
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A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function
- 2019
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Ingår i: The Journal of experimental medicine. - : Rockefeller University Press. - 1540-9538 .- 0022-1007. ; 216:12, s. 2778-2799
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Tidskriftsartikel (refereegranskat)abstract
- Hemophagocytic lymphohistiocytosis (HLH) is characterized by immune dysregulation due to inadequate restraint of overactivated immune cells and is associated with a variable clinical spectrum having overlap with more common pathophysiologies. HLH is difficult to diagnose and can be part of inflammatory syndromes. Here, we identify a novel hematological/autoinflammatory condition (NOCARH syndrome) in four unrelated patients with superimposable features, including neonatal-onset cytopenia with dyshematopoiesis, autoinflammation, rash, and HLH. Patients shared the same de novo CDC42 mutation (Chr1:22417990C>T, p.R186C) and altered hematopoietic compartment, immune dysregulation, and inflammation. CDC42 mutations had been associated with syndromic neurodevelopmental disorders. In vitro and in vivo assays documented unique effects of p.R186C on CDC42 localization and function, correlating with the distinctiveness of the trait. Emapalumab was critical to the survival of one patient, who underwent successful bone marrow transplantation. Early recognition of the disorder and establishment of treatment followed by bone marrow transplant are important to survival.
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| 9. |
- Gasche, C, et al.
(författare)
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Guidelines on the diagnosis and management of iron deficiency and anemia in inflammatory bowel diseases
- 2007
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Ingår i: Inflammatory Bowel Diseases. - : Oxford University Press (OUP). - 1078-0998 .- 1536-4844. ; 13:12, s. 1545-1553
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Tidskriftsartikel (refereegranskat)abstract
- Anemia is a common complication of inflammatory bowel diseases. An international working party has formed and developed guidelines for evaluation and treatment of anemia and iron deficiency that should serve practicing gastroenterologists. Within a total of 16 statements, recommendations are made regarding diagnostic measures to screen for iron- and other anemia-related deficiencies regarding the triggers for medical intervention, treatment goals, and appropriate therapies. Anemia is a common cause of hospitalization, prevents physicians from discharging hospitalized patients, and is one of me most frequent comorbid conditions in patients with inflammatory bowel disease. It therefore needs appropriate attention and specific care. Copyright © 2007 Crohn's & Colitis Foundation of America, Inc.
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| 10. |
- Gillespie, B. M., et al.
(författare)
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Economic case for intraoperative interventions to prevent surgical-site infection
- 2017
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Ingår i: British Journal of Surgery. - : Oxford University Press (OUP). - 0007-1323 .- 1365-2168. ; 104:2
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Tidskriftsartikel (refereegranskat)abstract
- Background: Surgical-site infection (SSI) occurs in 1–10 per cent of all patients undergoing surgery; rates can be higher depending on the type of surgery. The aim of this review was to establish whether (or not) surgical hand asepsis, intraoperative skin antisepsis and selected surgical dressings are cost-effective in SSI prevention, and to examine the quality of reporting. Methods: The authors searched MEDLINE via Ovid, CINAHL via EBSCO, Cochrane Central and Scopus databases systematically from 1990 to 2016. Included were RCTs and quasi-experimental studies published in English, evaluating the economic impact of interventions to prevent SSI relative to surgical hand and skin antisepsis, and wound dressings. Characteristics and results of included studies were extracted using a standard data collection tool. Study and reporting quality were assessed using SIGN and CHEERS checklists. Results: Across the three areas of SSI prevention, the combined searches identified 1214 articles. Of these, five health economic studies evaluating the cost-effectiveness of selected surgical dressings were eligible. Study authors concluded that the interventions being assessed were cost-effective, or were potentially cost-saving. Still, there is high uncertainty around the decision to adopt these dressings/devices in practice. The studies' reporting quality was reasonable; three reported at least 15 of the 24 CHEERS items appropriately. Assessment of methodological quality found that two studies were considered to be of high quality. Conclusion: With few economic studies undertaken in this area, the cost-effectiveness of these strategies is unclear. Incorporating economic evaluations alongside RCTs will help towards evidence-informed decisions. © 2017 BJS Society Ltd Published by John Wiley & Sons Ltd
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