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| 2. |
- Björkman, Kristoffer, et al.
(författare)
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Clinical course of patients with single large-scale mtDNA deletions and childhood onset anemia
- 2022
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Ingår i: 14th European Paediatric Neurology Society Congress, Glasgow, UK (ISBN 978-3-00-072065-9).
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
- Objective: To add to our knowledge of the clinical spectrum of patients with single large-scale mitochondrial DNA (mtDNA) deletion and childhood onset anemia. Methods: Retrospective collection of clinical data from medical records for patients, both living and deceased, with a single large-scale mtDNA deletion from seven mitochondrial disease centers in five countries. Statistical analysis with descriptive methods and Kaplan-Meier survival analysis. Results: Seventeen patients matching the genetic criterium and with anemia onset before six years of age. Exocrine pancreatic insufficiency was only seen in five patients in this group. Multiple organs were involved in all patients, with the most common non-hematologic ones being skeletal muscle, central nervous system, endocrine, eyes, gastrointestinal system, kidneys, hearing, liver and heart. Psychomotor retardation was seen in ten patients, hearing impairment in nine patients, failure to thrive in eight patients. Eight later developed Kearns-Sayre syndrome. Eleven patients were deceased, with a median age at death of 7.5 years. Conclusions: The classically described phenotype of patients with large-scale mtDNA deletions and early onset anemia is Pearson marrow-pancreas syndrome, characterized by sideroblastic anemia and exocrine pancreas dysfunction. Only a minority of our patients fulfill the original criteria of Pearson syndrome though. Involvement of other organs than the pancreas is more common. The clinical course vary, but multi-system impact is the rule and life-expectancy is low. Early onset anemia in patients with large-scale mtDNA deletions is most frequently not associated with exocrine pancreas dysfunction. Better knowledge of the phenotype is helpful for diagnosis and more accurate prognosis.
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- Khoshnood, Ardavan
(författare)
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Prehospital Diagnosis and Oxygen Treatment in ST Elevation Myocardial Infarction
- 2017
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- IntroductionPaper I: An Artificial Neural Network (ANN) was constructed to identify ST Elevation Myocardial Infarction (STEMI) and predict the need for Percutaneous Coronary Intervention (PCI). Paper II, III and IV: Studies suggest that O2 therapy may be harmful in STEMI patients. We therefore conducted the SOCCER study to evaluate the effects of O2 therapy in STEMI patients.MethodsPaper I: 560 ambulance ECGs sent to the Cardiac Care Unit (CCU), was together with the CCU physicians interpretation and decision of conducting an acute PCI or not collected, and compared with the interpretation and PCI decision of the ANN. Paper II, III, IV: Normoxic (≥94%) STEMI patients accepted for acute PCI were in the ambulance randomized to standard care with 10 L/min O2 or room air. A subset of the patients underwent echocardiography for determination of the Left Ventricular Ejection Fraction (LVEF) and the Wall Motion Score Index (WMSI). All patients had a Cardiac Magnetic Resonance Imaging (CMRI) to evaluate Myocardial area at Risk (MaR), Infarct Size (IS) and Myocardial Salvage Index (MSI).ResultsPaper I: The area under the ANN’s receiver operating characteristics curve for STEMI detection as well as predicting the need of acute PCI were very good.Paper II, III, IV: No significant differences could be shown in discussing MaR, MSI or IS between the O2 group (n=46) and the air group (n=49). Neither could any differences be shown for LVEF and WMSI at the index visit as well after six months between the O2 group (n=46) and the air group (n=41)ConclusionsPaper I: The results indicate that the number of ECGs sent to the CCU could be reduced with 2/3 as the ANN would safely identify ECGs not being STEMI.Paper II, III, IV: The results suggest that it is safe to withhold O2 therapy in normoxic, stable STEMI patients.
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- Ahlander, Britt-Marie, 1954-
(författare)
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Magnetic Resonance Imaging of the Heart : Image quality, measurement accuracy and patient experience
- 2016
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- Background: Non-invasive diagnostic imaging of atherosclerotic coronary artery disease (CAD) is frequently carried out with cardiovascular magnetic resonance imaging (CMR) or myocardial perfusion single photon emission computed tomography (MPS). CMR is the gold standard for the evaluation of scar after myocardial infarction and MPS the clinical gold standard for ischemia. Magnetic Resonance Imaging (MRI) is at times difficult for patients and may induce anxiety while patient experience of MPS is largely unknown.Aims: To evaluate image quality in CMR with respect to the sequences employed, the influence of atrial fibrillation, myocardial perfusion and the impact of patient information. Further, to study patient experience in relation to MRI with the goal of improving the care of these patients.Method: Four study designs have been used. In paper I, experimental cross-over, paper (II) experimental controlled clinical trial, paper (III) psychometric crosssectional study and paper (IV) prospective intervention study. A total of 475 patients ≥ 18 years with primarily cardiac problems (I-IV) except for those referred for MRI of the spine (III) were included in the four studies.Result: In patients (n=20) with atrial fibrillation, a single shot steady state free precession (SS-SSFP) sequence showed significantly better image quality than the standard segmented inversion recovery fast gradient echo (IR-FGRE) sequence (I). In first-pass perfusion imaging the gradient echo-echo planar imaging sequence (GREEPI) (n=30) had lower signal-to-noise and contrast–to-noise ratios than the steady state free precession sequence (SSFP) (n=30) but displayed a higher correlation with the MPS results, evaluated both qualitatively and quantitatively (II). The MRIAnxiety Questionnaire (MRI-AQ) was validated on patients, referred for MRI of either the spine (n=193) or the heart (n=54). The final instrument had 15 items divided in two factors regarding Anxiety and Relaxation. The instrument was found to have satisfactory psychometric properties (III). Patients who prior CMR viewed an information video scored significantly (lower) better in the factor Relaxation, than those who received standard information. Patients who underwent MPS scored lower on both factors, Anxiety and Relaxation. The extra video information had no effect on CMR image quality (IV).Conclusion: Single shot imaging in atrial fibrillation produced images with less artefact than a segmented sequence. In first-pass perfusion imaging, the sequence GRE-EPI was superior to SSFP. A questionnaire depicting anxiety during MRI showed that video information prior to imaging helped patients relax but did not result in an improvement in image quality.
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- Bjermo, Helena, 1981-
(författare)
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Dietary Fatty Acids and Inflammation : Observational and Interventional Studies
- 2011
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- Dietary fat quality influences the risk of type 2 diabetes and cardiovascular disease. A low-grade inflammation is suggested to contribute to the disease development, often accompanied by obesity. Whereas n-3 polyunsaturated fatty acids (PUFA) have been considered anti-inflammatory, n-6 PUFA have been proposed to act pro-inflammatory. Saturated fatty acids (SFA) act pro-inflammatory in vitro. This thesis aimed to investigate effects of different fatty acids on low-grade inflammation in observational and interventional studies. In Paper I and II, fatty acid composition in serum cholesterol esters was used as objective marker of dietary fat quality and related to serum C-reactive protein (CRP) and other circulating inflammatory markers in two population-based cohorts, conducted in middle-aged men and elderly men and women, respectively. In Paper III and IV, the impact of diets differing in fat quality on inflammation and oxidative stress was investigated in randomised controlled studies, in subjects with metabolic syndrome and abdominal obesity. In Paper I and II, a low proportion of linoleic acid (18:2 n-6) in serum was associated with higher CRP concentrations, indicating that a low intake of vegetable fats may be related to low-grade inflammation. High CRP concentrations were also associated with high proportions of palmitoleic (16:1) and oleic (18:1) acids and high stearoyl coenzymeA desaturase index, possibly reflecting altered fat metabolism and/or high SFA intake in this population. When comparing two high-fat diets rich in either saturated or monounsaturated fat, and two low-fat diets with or without long-chain n-3 PUFA supplementation during 12 weeks (Paper III), no differences in inflammation or oxidative stress markers were observed. Moreover, a 10-week intervention (Paper IV) with high linoleic acid intake showed no adverse effects on inflammation or oxidative stress. Instead, interleukin-1 receptor antagonist and tumor necrosis factor receptor-2 decreased after linoleic acid intake compared with a diet high in SFA. The results in this thesis indicate that dietary n-6 PUFA found in vegetable fats is associated with lower inflammation marker levels, and to some extent reduces systemic inflammation when compared with SFA. Supplementation of n-3 PUFA did not exert any systemic anti-inflammatory effects, maybe due to a relatively low dose.
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| 6. |
- Bondesson, Johan, 1991
(författare)
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Geometric Modeling of Thoracic Aortic Surface Morphology - Implications for Pathophysiology and Clinical Interventions
- 2021
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- Vascular disease risk factors such as hypertension, hyperlipidemia and old age are all results of modern-day lifestyle, and these diseases are getting more and more common. One treatment option for vascular diseases such as aneurysms and dissections is endovascular aortic repair introduced in the early 1990s. This treatment uses tubular fabric covered metallic structures (endografts) that are implanted using a minimally invasive approach and placed to serve as an articial vessel in a damaged portion of the vasculature. To ensure that the interventions are successful, the endograft must be placed in the correct location, and designed to sustain the hostile biological, chemical, and mechanical conditions in the body for many years. This is an interaction that goes both ways, and keeping in mind that the endograft is a foreign object placed in the sensitive vascular system, it is also important that it does not disrupt the native conditions more than necessary. This thesis presents a segmentation and quantication methodology to accurately describe the complex morphology and motion of diseased blood vessels in vivo through a natural and intuitive description of their luminal surfaces. After methodology validation, a series of important clinical applications are performed, all based on non-invasive imaging. Firstly, it is shown that explicit surface curvature quantication is necessary when compared to relying solely on centerline curvature and estimation methods. Secondly, it is shown that endograft malapposition severity can be predicted from preoperative geometric analysis of thoracic aortic surfaces. Thirdly, a multiaxial dynamics analysis of cardiac induced thoracic aortic surface motion shows how thoracic endovascular aortic repair affects the deformations of the dierent portions of the thoracic aorta. Fourthly, the helical propagation pattern of type B aortic dissection is determined, and two distinct modes of chirality are revealed, i.e., achiral and right-handed chiral groups. Finally, the effects of thoracic endovascular aortic repair on helical and cross-sectional morphology of type B dissections are investigated revealing how acuity and chirality affects the alteration due to intraluminal lining with endografts. Thus, the work presented in this thesis contributes by adding knowledge about pathology and pathophysiology through better geometric description of surface conditions of diseased thoracic aortas. This gives clinicians insights to use in their treatment planning and provides more nuanced boundary conditions for endograft manufacturers. Comprehensive knowledge about diseases, better treatment planning, and better devices are all crucial in order to improve the outcomes of performed interventions and ultimately the quality of life for the treated patients.
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| 8. |
- Erelund, Sofia, 1983-
(författare)
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Heart and lung function - in health and disease : methodological studies in clinical physiology
- 2023
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- The human heart and lungs constitute an intricate and dynamic system. Various clinical physiological examinations can be used to evaluate cardio-pulmonary function and identify abnormalities. Thus, it is important to understand how normal physiology presents, to be able to identify pathological findings. To distinguish normal from abnormal findings in a patient population compared to healthy controls, adequate, accurate and up-to-date reference materials are required. There is currently a lack of well-established sex and age specific reference materials that clearly state boundaries of normality for electrocardiography (ECG) variables. For lung function examinations there are several different reference materials available, being discordant between ethnicities. In addition, the relation between lung function, age, sex, and height has generally been difficult to model in an optimal way. This highlights the need for more adequate sex-specific models regarding age- and height-dependency of spirometry variables. Heart rate variability (HRV) is a method for evaluating the autonomic nervous system (ANS) and its influence on heart rate and blood pressure. Autonomic disturbances are characterized by an imbalance between the sympathetic and the parasympathetic nervous systems. It is well known that decreased HRV is associated with increased mortality. Autonomic imbalances are also associated with various pathological conditions, of which rheumatoid arthritis (RA) and ischemic heart disease (IHD) are studied in this thesis.The purpose of this thesis was to describe the properties of different clinical physiological examinations and to investigate reference values relating to cardiovascular and pulmonary function in healthy individuals regarding age and sex. In addition, the aim was to assess the relationship between HRV, RA and CVD both cross sectionally and longitudinally. In a subjectively healthy population (n=219) of varying age, there were age and sex-dependent differences in ECG examinations. This emphasizes former findings and supports the need to establish age- and sex-specific reference values in the future. Lung function examinations in subjectively healthy persons (n=285) support and emphasize that the reference values presented by the Global Lung function Initiative (GLI) underestimate the pulmonary function in the adult Swedish population. The study showed that the model used in GLI can be updated with new values that are specific for the Caucasian population in Sweden. Patients with RA (n=50) presented with lower HRV than healthy controls (n=100) during autonomic provocation tests, both at baseline examinations and after five years. This indicates a cardiac autonomic imbalance. Furthermore, increased systolic blood pressure was associated with reduced HRV, thus a decrease in HRV could be a risk marker for developing arterial hypertension in this patient group.Females with IHD (n=197) presented with lower HRV compared to controls (n=141) at baseline, and a higher mortality rate after 15 years. The higher mortality rate was only present in females < 60 years of age. For measurements obtained in the upright position, HRV was higher in females that died during follow-up compared to those who were alive. This thesis emphasizes the importance of validated and updated sex- and age- specific reference materials, and models that are well suited for different clinical physiological examinations. Additionally, HRV examinations exposed changes in the ANS related to RA as well as IHD, where findings were shown to be persistent over time and particularly pronounced during provocations. In the future, HRV assessment could be a useful tool to identify the increased risk of developing hypertension in patients with RA, or to customize treatment based on ANS response as the field of personalized medicine continues to evolve.
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| 9. |
- Jonsson, Åsa, 1969-
(författare)
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How to create and analyze a Heart Failure Registry with emphasis on Anemia and Quality of Life
- 2017
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- Background and aimsHeart failure (HF) is a major cause of serious morbidity and death in the population and one of the leading medical causes of hospitalization among people older than 60 years. The aim of this thesis was to describe how to create and how to analyze a Heart Failure Registry with emphasis on Anemia and Quality of Life. (Paper I) We described the creation of the Swedish Heart Failure Registry (SwedeHF) as an instrument, which may help to optimize the handling of HF patients and show how the registry can be used to improve the management of patients with HF. (Paper II) In order to show how to analyze a HF registry we investigated the prevalence of anemia, its predictors, and its association with mortality and morbidity in a large cohort of unselected patients with HFrEF included in the SwedeHF, and to explore if there are subgroups of HF patients identifying high--‐risk patients in need of treatment. (Paper III) In order to show another way of analyzing a HF registry we assessed the prevalence of, associations with, and prognostic impact of anemia in patients with HFmrEF and HFpEF. (Paper IV) Finally we examined the usefulness of EQ--‐ 5D as a measure of patient--‐reported outcomes among HF patients using different analytical models and data from the SwedeHF, and comparing results about HRQoL for patients with HFpEF and HFrEF.Methods An observational study based on the SwedeHF database, consisting of about 70 variables, was undertaken to describe how a registry is created and can be used (Paper I). One comorbidity (anemia) was applied to different types of HF patients, HFrEF (EF <40%) (II) and HFmrEF (EF 40--‐49% ) or HFpEF (> 50%) (III) analyzing the data with different statistical methods. The usefulness of EQ--‐5D as measure of patient--‐ reported outcomes was studied and the results about HRQoL were compared for patients with HFpEF and HFrEF (IV).ResultsIn the first paper (Paper I) we showed how to create a HF registry and presented some characteristics of the patients included, however not adjusted since this was not the purpose of the study. In the second paper (Paper II) we studied anemia in patients with HFrEF and found that the prevalence of anemia in HFrEF were 34 % and the most important independent predictors were higher age, male gender and renal dysfunction. One--‐year survival was 75 % with anemia vs. 81 % without (p<0,001). In the matched cohort after propensity score the hazard ratio associated with anemia was for all--‐cause death 1.34. Anemia was associated with greater risk with lower age, male gender, EF 30--‐39%, and NYHA--‐class I--‐II. In the third paper (Paper III) we studied anemia in other types of HF patients and found that the prevalence in the overall cohort in patients with EF > 40% was 42 %, in HFmrEF 38 % and in HFpEF (45%). Independent associations with anemia were HFpEF, male sex, higher age, worse New York Heart Association class and renal function, systolic blood pressure <100 mmHg, heart rate ≥70 bpm, diabetes, and absence of atrial fibrillation. One--‐year survival with vs. without anemia was 74% vs. 89% in HFmrEF and 71% vs. 84% in HFpEF (p<0.001 for all). Thus very similar results in paper II and III but in different types of HF patients. In the fourth paper (Paper IV) we studied the usefulness of EQ--‐5D in two groups of patients with HF (HFpEF and HFrEF)) and found that the mean EQ--‐5D index showed small reductions in both groups at follow--‐up. The patients in the HFpEF group reported worsening in all five dimensions, while those in the HFrEF group reported worsening in only three. The Paretian classification showed that 24% of the patients in the HFpEF group and 34% of those in the HFrEF group reported overall improvement while 43% and 39% reported overall worsening. Multiple logistic regressions showed that treatment in a cardiology clinic affected outcome in the HFrEF group but not in the HFpEF group (Paper IV).Conclusions The SwedeHF is a valuable tool for improving the management of patients with HF, since it enables participating centers to focus on their own potential for improving diagnoses and medical treatment, through the online reports (Paper I). Anemia is associated with higher age, male gender and renal dysfunction and increased risk of mortality and morbidity (II, III). The influence of anemia on mortality was significantly greater in younger patients in men and in those with more stable HF (Paper II, III). The usefulness of EQ--‐5D is dependent on the analytical method used. While the index showed minor differences between groups, analyses of specific dimensions showed different patterns of change in the two groups of patients (HFpEF and HFrEF). The Paretian classification identified subgroups that improved or worsened, and can therefore help to identify needs for improvement in health services (Paper IV).
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| 10. |
- Hope, Michael D., et al.
(författare)
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Thoracic Aorta Disease : Flow Evaluation by MR
- 2013. - 3
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Ingår i: MRI and CT of the Cardiovascular System. - Philadelphia, PA : Lippincott Williams & Wilkins. - 9781451137316 ; , s. -676
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Bokkapitel (övrigt vetenskapligt/konstnärligt)abstract
- Leave no disease undetected with MRI and CT of the Cardiovascular System, your definitive guide to magnetic resonance and computed tomography for cardiovascular health. Authored by a collaboration of international experts, this vivid, four-color third edition imparts the latest technologies in a rapidly advancing field. With topics that range from anatomy, to MR in infants and children, to risk assessment in ischemic heart disease this text includes seven new chapters to reflect the rising tide of technological discovery as it pertains to cardiology. Thanks to its expert analysis, procedural guide to implementation, and profound understanding of the recent advances in cardiovascular imagining, MRI and CT of the Cardiovascular System gives you all the tools necessary for powerful screening, diagnosis, and cardiovascular care. Features:--New chapters reflecting technological discoveries in cardiology --Color illustrations for heightened clarity --Companion website with fully searchable text --Units organized by pathology and disease detection --Fully updated information on application of MR and CT--Up-to-date analysis of emerging multi-detector CT
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