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- Oldfors Hedberg, Carola, 1969, et al.
(författare)
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Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles
- 2020
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Ingår i: Brain. - : Oxford University Press (OUP). - 0006-8950 .- 1460-2156. ; 143:8, s. 2406-2420
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Tidskriftsartikel (refereegranskat)abstract
- The muscle specific isoform of the supervillin protein (SV2), encoded by the SVIL gene, is a large sarcolemmal myosin II- and F-actin-binding protein. Supervillin (SV2) binds and co-localizes with costameric dystrophin and binds nebulin, potentially attaching the sarcolemma to myofibrillar Z-lines. Despite its important role in muscle cell physiology suggested by various in vitro studies, there are so far no reports of any human disease caused by SVIL mutations. We here report four patients from two unrelated, consanguineous families with a childhood/adolescence onset of a myopathy associated with homozygous loss-of-function mutations in SVIL. Wide neck, anteverted shoulders and prominent trapezius muscles together with variable contractures were characteristic features. All patients showed increased levels of serum creatine kinase but no or minor muscle weakness. Mild cardiac manifestations were observed. Muscle biopsies showed complete loss of large supervillin isoforms in muscle fibres by western blot and immunohistochemical analyses. Light and electron microscopic investigations revealed a structural myopathy with numerous lobulated muscle fibres and considerable myofibrillar alterations with a coarse and irregular intermyofibrillar network. Autophagic vacuoles, as well as frequent and extensive deposits of lipoproteins, including immature lipofuscin, were observed. Several sarcolemma-associated proteins, including dystrophin and sarcoglycans, were partially mis-localized. The results demonstrate the importance of the supervillin (SV2) protein for the structural integrity of muscle fibres in humans and show that recessive loss-of-function mutations in SVIL cause a distinctive and novel myopathy
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| 2. |
- Andersson, Karin M., 1989-, et al.
(författare)
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Visual grading evaluation of commercially available metal artefact reduction techniques in hip prosthesis computed tomography
- 2016
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Ingår i: British Journal of Radiology. - London, United Kingdom : British Institute of Radiology. - 0007-1285 .- 1748-880X. ; 89:1063
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Tidskriftsartikel (refereegranskat)abstract
- Objectives: To evaluate metal artefact reduction (MAR) techniques from four computed tomography (CT) vendors in hip prosthesis imaging.Methods: Bilateral hip prosthesis phantom images, obtained by using MAR algorithms for single energy CT data or dual energy CT (DECT) data and by monoenergetic reconstructions of DECT data, were visually graded by five radiologists using ten image quality criteria. Comparisons between the MAR images and a reference image were performed for each scanner separately. Ordinal probit regression analysis was used.Results: The MAR algorithms in general improved the image quality based on the majority of the criteria (up to between 8/10 and 10/10) with a statistically improvement in overall image quality (P<0.001). However, degradation of image quality, such as new artefacts, was seen in some cases. A few monoenergetic reconstruction series improved the image quality (P<0.004) for one of the DECT scanners, but it was only improved for some of the criteria (up to 5/10). Monoenergetic reconstructions resulted in worse image quality for the majority of the criteria (up to 7/10) for the other DECT scanner.Conclusions: The MAR algorithms improved the image quality of the hip prosthesis CT images. However, since additional artefacts and degradation of image quality were seen in some cases, all algorithms should be carefully evaluated for every clinical situation. Monoenergetic reconstructions were in general concluded to be insufficient for reducing metal artifacts. Advances in knowledge: Qualitative evaluation of the usefulness of several MAR techniques from different vendors in CT imaging of hip prosthesis.
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| 4. |
- Forsblad-d'Elia, H, et al.
(författare)
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Biomechanical Properties of Common Carotid Arteries Assessed by Circumferential 2D Strain and β Stiffness Index in Patients With Ankylosing Spondylitis
- 2021
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Ingår i: The Journal of rheumatology. - : The Journal of Rheumatology. - 0315-162X .- 1499-2752. ; 48:3, s. 352-360
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Tidskriftsartikel (refereegranskat)abstract
- Ankylosing spondylitis (AS) is associated with an elevated risk of cardiovascular disease (CVD) related to atherosclerosis, preceded by arterial stiffness. We aimed to examine common carotid artery (CCA) biomechanical properties using ultrasound to calculate β stiffness index (indicating arterial stiffness) and, a more recently developed technique, 2-dimensional (2D) speckle tracking strain (indicating arterial motion and deformation, strain) to (1) compare with age- and sex-matched controls, and (2) analyze relationships between strain and stiffness with disease characteristics and traditional risk factors for CVD in patients with AS.Methods.In this cross-sectional study, a cohort of 149 patients with AS, mean age 55.3 ± 11.2 years, 102 (68.5%) men, and 146 (98%) HLA-B27–positive, were examined. Bilateral CCA were examined for circumferential 2D strain and β stiffness index. A subgroup of 46 patients was compared with 46 age- and sex-matched controls, both groups without hypertensive disease, diabetes, myocardial infarction, or stroke.Results.Mean bilateral circumferential 2D strain was lower in AS patients compared with controls (7.9 ± 2.6% vs 10.3 ± 1.9%, P < 0.001), whereas mean bilateral β stiffness index was higher (13.1 ± 1.7 mmHg/mm vs 12.3 ± 1.3 mmHg/mm, P = 0.02). In multivariable linear regression analyses, strain was associated with age, erythrocyte sedimentation rate, history of anterior uveitis, and treatment with conventional synthetic disease-modifying antirheumatic drugs (DMARD) and/or biological DMARD (R2 0.33), while stiffness was associated with age (R2 0.19).Conclusion.Both CCA circumferential 2D strain and β stiffness index differed between patients with AS and controls. Strain was associated with AS-related factors and age, whereas only age was associated with stiffness, suggesting that the obtained results reflect different pathogenic vascular processes.
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| 8. |
- Ah, Rebecka, et al.
(författare)
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Prognostic Value of P-POSSUM and Osteopenia for Predicting Mortality After Emergency Laparotomy in Geriatric Patients
- 2019
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Ingår i: Bulletin of emergency and trauma. - : Shiraz University of Medical Sciences. - 2322-2522 .- 2322-3960. ; 7:3, s. 223-231
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Tidskriftsartikel (refereegranskat)abstract
- Objective: To evaluate the Portsmouth-Physiological and Operative Severity Score for the enUmeration of Mortality and morbidity (P-POSSUM) in comparison with other risk factors for mortality including osteopenia as an indicator for frailty in geriatric patients subjected to emergency laparotomy.Methods: All geriatric patients (≥65 years) undergoing emergency laparotomy at a single university hospital between 1/2015 and 12/2016 were included in this cohort study. Demographics and outcomes were retrospectively collected from medical records. Association between prognostic markers and 30-day mortality was assessed using Poisson and backward stepwise regression models. Prognostic value was assessed using receiver operating characteristic (ROC) curves.Results: =0.004) while osteopenia was not. P-POSSUM had poor prognostic value for 30-day mortality with an area under the ROC curve (AUC) of 0.59. The prognostic value of P-POSSUM improved significantly when adjusting for patient covariates (AUC=0.83).Conclusion: P-POSSUM and osteopenia alone hardly predict 30-day mortality in geriatric patients following emergency laparotomy. P-POSSUM adjusted for other patient covariates improves the prediction.
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| 9. |
- Alkhader, M., et al.
(författare)
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Comparative analysis of the oropharyngeal airway in patients aged over 40 years: A cone beam computed tomography study
- 2019
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Ingår i: European Journal of General Dentistry. - 2278-9626. ; 8:3, s. 76-79
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Tidskriftsartikel (refereegranskat)abstract
- Aim: This study was carried out to compare different measurements of the oropharyngeal airway in patients aged over 40 years on cone beam computed tomography (CBCT) images. Materials and Methods: Seven hundred and five patients aged over 40 years were divided into three groups (40-49, 50-59, and ≥60 years). A comparative analysis of oropharyngeal airway (volume, minimum cross-sectional area, minimum anteroposterior distance, and minimum right to left distance) between the groups was carried out on CBCT images acquired for different dental purposes. Data were analyzed using the one-way ANOVA statistical test. Results: There were statistically significant differences between the groups in mean value of oropharyngeal airway measurements (P < 0.05). In the middle age group of patients aged from 50 to 59 years, the mean value of each measurement was lower than its counterpart in other groups. Conclusions: Patients aged from 50 to 59 years had the smallest oropharyngeal airway measurements; therefore, they might be at high risk of developing sleep-related breathing disorders, and further assessment is recommended. © 2019 Medknow Publications. All rights reserved.
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| 10. |
- Bozovic, Gracijela, et al.
(författare)
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Impact of donor chest radiography on clinical outcome after lung transplantation
- 2018
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Ingår i: Acta Radiologica Open. - : SAGE Publications. - 2058-4601. ; 7:6
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Tidskriftsartikel (refereegranskat)abstract
- BackgroundOrgan donation guidelines recommend a “clear” conventional bedside chest radiograph before lung transplantation despite only moderate accuracy for cardiopulmonary abnormalities.PurposeTo evaluate the influence of donor image interpretation on lung transplantation outcome in recipients by following early and late complications, one-year survival, and to correlate imaging findings and blood gas analysis with lung transplantation outcome in recipients.Material and MethodsIn 35 lung donors from a single institution clinical reports and study reviews of imaging findings of the mandatory bedside chest radiographs and blood gas analyses were compared with clinical outcome in 38 recipients. Hospitalization time, peri- and postoperative complications, early complications (primary graft dysfunction, infection), 30-day and one-year survival, and forced expiratory volume in 1 s percentage of predicted normal value (FEV1%) at one-year follow-up were analyzed.ResultsFindings in clinical reports and study reviews differed substantially, e.g. regarding reported decompensation, edema, infection, and atelectasis. No correlation was shown between imaging findings in clinical report or study review and blood gas analyses in the lung donors compared to postoperative outcome in recipients.ConclusionThe interpretation of the mandatory chest radiograph in its present form does not influence one-year outcome in lung transplantation. Larger imaging studies or a change in clinical routine including computed tomography may provide evidence for future guidelines.
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