| 1. |
- Hikmat, O., et al.
(author)
-
Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases
- 2020
-
In: Journal of Inherited Metabolic Disease. - : Wiley. - 0141-8955 .- 1573-2665. ; 43:4, s. 726-736
-
Journal article (peer-reviewed)abstract
- Background: Variants in POLG are one of the most common causes of inherited mitochondrial disease. Phenotypic classification of POLG disease has evolved haphazardly making it complicated and difficult to implement in everyday clinical practise. The aim of our study was to simplify the classification and facilitate better clinical recognition. Methods: A multinational, retrospective study using data from 155 patients with POLG variants recruited from seven European countries. Results: We describe the spectrum of clinical features associated with POLG variants in the largest known cohort of patients. While clinical features clearly form a continuum, stratifying patients simply according to age of onset—onset prior to age 12 years; onset between 12 and 40 years and onset after the age of 40 years, permitted us to identify clear phenotypic and prognostic differences. Prior to 12 years of age, liver involvement (87%), seizures (84%), and feeding difficulties (84%) were the major features. For those with onset between 12 and 40 years, ataxia (90%), peripheral neuropathy (84%), and seizures (71%) predominated, while for those with onset over 40 years, ptosis (95%), progressive external ophthalmoplegia (89%), and ataxia (58%) were the major clinical features. The earlier the onset the worse the prognosis. Patients with epilepsy and those with compound heterozygous variants carried significantly worse prognosis. Conclusion: Based on our data, we propose a simplified POLG disease classification, which can be used to guide diagnostic investigations and predict disease course. © 2020 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM
|
|
| 2. |
|
|
| 3. |
- Hikmat, O., et al.
(author)
-
The impact of gender, puberty, and pregnancy in patients with POLG disease
- 2020
-
In: Annals of Clinical and Translational Neurology. - : Wiley. - 2328-9503. ; 7:10, s. 2019-2025
-
Journal article (peer-reviewed)abstract
- Objective To study the impact of gender, puberty, and pregnancy on the expression of POLG disease, one of the most common mitochondrial diseases known. Methods Clinical, laboratory, and genetic data were collected retrospectively from 155 patients with genetically confirmed POLG disease recruited from seven European countries. We used the available data to study the impact of gender, puberty, and pregnancy on disease onset and deterioration. Results We found that disease onset early in life was common in both sexes but there was also a second peak in females around the time of puberty. Further, pregnancy had a negative impact with 10 of 14 women (71%) experiencing disease onset or deterioration during pregnancy. Interpretation Gender clearly influences the expression of POLG disease. While onset very early in life was common in both males and females, puberty in females appeared associated both with disease onset and increased disease activity. Further, both disease onset and deterioration, including seizure aggravation and status epilepticus, appeared to be associated with pregnancy. Thus, whereas disease activity appears maximal early in life with no subsequent peaks in males, both menarche and pregnancy appear associated with disease onset or worsening in females. This suggests that hormonal changes may be a modulating factor.
|
|
| 4. |
- Johansson, K. E., et al.
(author)
-
Identification of three clusters of canine intestinal spirochaetes by biochemical and 16S rDNA sequence analysis
- 2004
-
In: Journal of Medical Microbiology. - : Microbiology Society. - 0022-2615 .- 1473-5644. ; 53:4, s. 345-350
-
Journal article (peer-reviewed)abstract
- It has been suggested that canine intestinal spirochaetes consist of Brachyspira pilosicoli and a group of strains that has been provisionally designated 'Brachyspira canis'. The purpose of the present study was to compare 22 spirochaete isolates that were obtained from intestinal specimens of dogs in Sweden (n = 12), Norway (n = 4), the United States (n = 3), Australia (n = 2) and Germany (n = 1) with type and reference strains, as well as field isolates, of Brachyspira species by five biochemical tests and determination of almost-complete 16S rDNA sequences. In an evolutionary tree derived from 16S rDNA sequences, the canine isolates grouped into three clusters. One cluster included the type strain of porcine B. pilosicoli, whereas a second larger cluster, which was monophyletic, contained a canine strain that was identified previously as 'B. canis'. The third cluster consisted of three canine isolates of Scandinavian origin, which grouped together with the type strain of the species Brachyspira alvinipulli (pathogenic to chicken). These three genotypes, which were identified on the basis of 16S rDNA sequences, corresponded to four phenotypic groups based on biochemical testing. Two biochemical tests, hippurate hydrolysis and alpha-galactosidase production, were sufficient for rapid identification of each canine cluster.
|
|
| 5. |
|
|
| 6. |
|
|
| 7. |
- Aumailley, M, et al.
(author)
-
A simplified laminin nomenclature
- 2005
-
In: Matrix Biology. - : Elsevier BV. - 1569-1802 .- 0945-053X. ; 24:5, s. 326-332
-
Research review (peer-reviewed)abstract
- A simplification of the laminin nomenclature is presented. Laminins are multidomain heterotrimers composed of alpha, beta and gamma chains. Previously, laminin trimers were numbered with Arabic numerals in the order discovered, that is laminins-1 to -5. We introduce a new identification system for a trimer using three Arabic numerals, based on the alpha, beta and gamma chain numbers. For example, the laminin with the chain composition alpha 5 beta 1 gamma 1 is termed laminin-511, and not laminin-10. The current practice is also to mix two overlapping domain and module nomenclatures. Instead of the older Roman numeral nomenclature and mixed nomenclature, all modules are now called domains. Some domains are renamed or renumbered. Laminin epidermal growth factor-like (LE) domains are renumbered starting at the N-termini, to be consistent with general protein nomenclature. Domain IVb of alpha chains is named laminin 4a (L4a), domain IVa of alpha chains is named L4b, domain IV of gamma chains is named L4, and domain IV of beta chains is named laminin four (LF). The two coiled-coil domains I and II are now considered one laminin coiled-coil domain (LCC). The interruption in the coiled-coil of 13 chains is named laminin beta-knob (L beta) domain. The chain origin of a domain is specified by the chain nomenclature, such as alpha IL4a. The abbreviation LM is suggested for laminin. Otherwise, the nomenclature remains unaltered.
|
|
| 8. |
- Biollaz, S., et al.
(author)
-
Gas analysis in gasification of biomass and waste : Guideline report: Document 1
- 2018
-
Reports (peer-reviewed)abstract
- Gasification is generally acknowledged as one of the technologies that will enable the large-scale production of biofuels and chemicals from biomass and waste. One of the main technical challenges associated to the deployment of biomass gasification as a commercial technology is the cleaning and upgrading of the product gas. The contaminants of product gas from biomass/waste gasification include dust, tars, alkali metals, BTX, sulphur-, nitrogen- and chlorine compounds, and heavy metals. Proper measurement of the components and contaminants of the product gas is essential for the monitoring of gasification-based plants (efficiency, product quality, by-products), as well as for the proper design of the downstream gas cleaning train (for example, scrubbers, sorbents, etc.). In practice, a trade-off between reliability, accuracy and cost has to be reached when selecting the proper analysis technique for a specific application. The deployment and implementation of inexpensive yet accurate gas analysis techniques to monitor the fate of gas contaminants might play an important role in the commercialization of biomass and waste gasification processes.This special report commissioned by the IEA Bioenergy Task 33 group compiles a representative part of the extensive work developed in the last years by relevant actors in the field of gas analysis applied to(biomass and waste) gasification. The approach of this report has been based on the creation of a team of contributing partners who have supplied material to the report. This networking approach has been complemented with a literature review. The report is composed of a set of 2 documents. Document 1(the present report) describes the available analysis techniques (both commercial and underdevelopment) for the measurement of different compounds of interest present in gasification gas. The objective is to help the reader to properly select the analysis technique most suitable to the target compounds and the intended application. Document 1 also describes some examples of application of gas analysis at commercial-, pilot- and research gasification plants, as well as examples of recent and current joint research activities in the field. The information contained in Document 1 is complemented with a book of factsheets on gas analysis techniques in Document 2, and a collection of video blogs which illustrate some of the analysis techniques described in Documents 1 and 2.This guideline report would like to become a platform for the reinforcement of the network of partners working on the development and application of gas analysis, thus fostering collaboration and exchange of knowledge. As such, this report should become a living document which incorporates in future coming progress and developments in the field.
|
|
| 9. |
- Biollaz, S., et al.
(author)
-
Gas analysis in gasification of biomass and waste : Guideline report: Document 2 - Factsheets on gas analysis techniques
- 2018
-
Reports (peer-reviewed)abstract
- Gasification is generally acknowledged as one of the technologies that will enable the large-scale production of biofuels and chemicals from biomass and waste. One of the main technical challenges associated to the deployment of biomass gasification as a commercial technology is the cleaning and upgrading of the product gas. The contaminants of product gas from biomass/waste gasification include dust, tars, alkali metals, BTX, sulphur-, nitrogen- and chlorine compounds, and heavy metals. Proper measurement of the components and contaminants of the product gas is essential for the monitoring of gasification-based plants (efficiency, product quality, by-products), as well as for the proper design of the downstream gas cleaning train (for example, scrubbers, sorbents, etc.). The deployment and implementation of inexpensive yet accurate gas analysis techniques to monitor the fate of gas contaminants might play an important role in the commercialization of biomass and waste gasification processes.This special report commissioned by the IEA Bioenergy Task 33 group compiles a representative part of the extensive work developed in the last years by relevant actors in the field of gas analysis applied to (biomass and waste) gasification. The approach of this report has been based on the creation of a team of contributing partners who have supplied material to the report. This networking approach has been complemented with a literature review. This guideline report would like to become a platform for the reinforcement of the network of partners working on the development and application of gas analysis, thus fostering collaboration and exchange of knowledge. As such, this report should become a living document which incorporates in future coming progress and developments in the field.
|
|
| 10. |
|
|
| 11. |
- Honkaniemi, E, et al.
(author)
-
Adenovirus DNA in Guthrie cards from children who develop acute lymphoblastic leukaemia (ALL).
- 2010
-
In: British Journal of Cancer. - : Springer Science and Business Media LLC. - 0007-0920 .- 1532-1827. ; 102:5, s. 796-8
-
Journal article (peer-reviewed)abstract
- BACKGROUND: In search of a proposed viral aetiology of childhood acute lymphoblastic leukaemia (ALL), the common species C adenoviruses were analysed in Guthrie cards. METHODS: Guthrie cards from 243 children who later developed ALL and from 486 matched controls were collected and analysed by nested polymerase chain reaction for the presence of adenovirus DNA. RESULTS: Adenovirus DNA was reliably detected from only two subjects, both of whom developed ALL. CONCLUSION: Adenovirus DNA is detected in Guthrie card samples at too low a frequency to reveal an association between adenovirus and the development of leukaemia.
|
|
| 12. |
|
|
| 13. |
- White, Helen E., et al.
(author)
-
Standardization of molecular monitoring of CML : results and recommendations from the European treatment and outcome study
- 2022
-
In: Leukemia. - : Springer Nature. - 0887-6924 .- 1476-5551. ; 36:7, s. 1834-1842
-
Journal article (peer-reviewed)abstract
- Standardized monitoring of BCR::ABL1 mRNA levels is essential for the management of chronic myeloid leukemia (CML) patients. From 2016 to 2021 the European Treatment and Outcome Study for CML (EUTOS) explored the use of secondary, lyophilized cell-based BCR::ABL1 reference panels traceable to the World Health Organization primary reference material to standardize and validate local laboratory tests. Panels were used to assign and validate conversion factors (CFs) to the International Scale and assess the ability of laboratories to assess deep molecular response (DMR). The study also explored aspects of internal quality control. The percentage of EUTOS reference laboratories (n = 50) with CFs validated as optimal or satisfactory increased from 67.5% to 97.6% and 36.4% to 91.7% for ABL1 and GUSB, respectively, during the study period and 98% of laboratories were able to detect MR4.5 in most samples. Laboratories with unvalidated CFs had a higher coefficient of variation for BCR::ABL1(IS) and some laboratories had a limit of blank greater than zero which could affect the accurate reporting of DMR. Our study indicates that secondary reference panels can be used effectively to obtain and validate CFs in a manner equivalent to sample exchange and can also be used to monitor additional aspects of quality assurance.
|
|
| 14. |
|
|
| 15. |
|
|
| 16. |
|
|
| 17. |
- Ahlander, Britt-Marie, 1954-, et al.
(author)
-
Development and validation of a questionnaire evaluating patient anxiety during Magnetic Resonance Imaging : the Magnetic Resonance Imaging-Anxiety Questionnaire (MRI-AQ)
- 2016
-
In: 19th Annual SCMR Scientific Sessio. - : BioMed Central.
-
Conference paper (peer-reviewed)abstract
- Background: MR examinations of the heart are sometimes negatively affected by anxiety that could have been detected by the pre-scan administration of a suitable questionnaire and psychological support given. To better understand patient experience during the examination and to evaluate psychological intervention, use of general anxiety scales is unsuitable and an MR-specific questionnaire was developed.Methods: A new questionnaire, MRI-AQ, was designed from patient expressions of anxiety in MRI-scanners. The patient sample was recruited between October 2012 and October 2014. Factor structure was evaluated with exploratory factor analysis and internal consistency with Cronbach’s alpha. Criterion-related validity, known-group validity and test-retest was evaluated. The new instrument was compared with the Spielberg State Anxiety Index (STAI), the Hospital Anxiety and Depression Scale (HAD), and with nine statements from the Fear Survey Schedule developed by Lukins et al.Results: In total, 247 participants (54.7 ± 14.3 years), referred for MRI examinations of either the spine or the heart, accepted to participate in the study. The development and validation of MRI-AQ resulted in 15 items which could be used as an overall global score or as two sub scale scores. Cronbach’s alpha was found to be high (a = 0.90). MRI-AQ correlated higher with instruments measuring anxiety than with depression scales. Known-group validity demonstrated a higher level of anxiety for patients undergoing MRI scan of the heart than for those examining the spine (p < 0.01). Test-retest reliability demonstrated acceptable level for the scale (ICC = 0.90; CCC = 0.90). Conclusions: MRI-AQ bridges a gap among existing questionnaires, making it a simple and useful tool for measuring patient anxiety during MRI examinations.
|
|
| 18. |
|
|
| 19. |
|
|
| 20. |
- Bergström, Göran, et al.
(author)
-
Prevalence of Subclinical Coronary Artery Atherosclerosis in the General Population
- 2021
-
In: Circulation. - : Wolters Kluwer. - 0009-7322 .- 1524-4539. ; 144:12, s. 916-929
-
Journal article (peer-reviewed)abstract
- Background: Early detection of coronary atherosclerosis using coronary computed tomography angiography (CCTA), in addition to coronary artery calcification (CAC) scoring, may help inform prevention strategies. We used CCTA to determine the prevalence, severity, and characteristics of coronary atherosclerosis and its association with CAC scores in a general population.Methods: We recruited 30 154 randomly invited individuals age 50 to 64 years to SCAPIS (the Swedish Cardiopulmonary Bioimage Study). The study includes individuals without known coronary heart disease (ie, no previous myocardial infarctions or cardiac procedures) and with high-quality results from CCTA and CAC imaging performed using dedicated dual-source CT scanners. Noncontrast images were scored for CAC. CCTA images were visually read and scored for coronary atherosclerosis per segment (defined as no atherosclerosis, 1% to 49% stenosis, or ≥50% stenosis). External validity of prevalence estimates was evaluated using inverse probability for participation weighting and Swedish register data.Results: In total, 25 182 individuals without known coronary heart disease were included (50.6% women). Any CCTA-detected atherosclerosis was found in 42.1%; any significant stenosis (≥50%) in 5.2%; left main, proximal left anterior descending artery, or 3-vessel disease in 1.9%; and any noncalcified plaques in 8.3% of this population. Onset of atherosclerosis was delayed on average by 10 years in women. Atherosclerosis was more prevalent in older individuals and predominantly found in the proximal left anterior descending artery. Prevalence of CCTA-detected atherosclerosis increased with increasing CAC scores. Among those with a CAC score >400, all had atherosclerosis and 45.7% had significant stenosis. In those with 0 CAC, 5.5% had atherosclerosis and 0.4% had significant stenosis. In participants with 0 CAC and intermediate 10-year risk of atherosclerotic cardiovascular disease according to the pooled cohort equation, 9.2% had CCTA-verified atherosclerosis. Prevalence estimates had excellent external validity and changed marginally when adjusted to the age-matched Swedish background population.Conclusions: Using CCTA in a large, random sample of the general population without established disease, we showed that silent coronary atherosclerosis is common in this population. High CAC scores convey a significant probability of substantial stenosis, and 0 CAC does not exclude atherosclerosis, particularly in those at higher baseline risk.
|
|
| 21. |
- Berndtson, E., et al.
(author)
-
A 1-year epidemiological study of campylobacters in 18 Swedish chicken farms
- 1996
-
In: Preventive Veterinary Medicine. - : Elsevier. - 0167-5877 .- 1873-1716. ; 26:3-4, s. 167-185
-
Journal article (peer-reviewed)abstract
- Broiler chickens are often intestinal carriers of Campylobacter. During processing, Campylobacter may be spread over the carcass. Thus, undercooked chicken meat, or other foods contaminated by raw chicken can act as a source of infection to humans. This study was conducted to identify risk factors for chicken flocks being colonized with Campylobacter. Eighteen chicken farms with altogether 62 chicken compartments were studied for 1 year with visits during each growing period and sampling of chicken caecal contents at slaughter. Four to six subsequent flocks were raised in each compartment during the study. A detailed questionnaire was used to record farm parameters such as building materials, feed and water equipment, hygiene and management routines. Campylobacter prevalence varied between farms, between growing periods within the farms and also during the year, with lowest prevalence during the spring. Campylobacters were isolated from 27% out of 287 flocks. Only two farms were negative at all samplings. Often the flock following a positive flock in a compartment was negative, indicating that normal cleaning and disinfecting routines are sufficient for eliminating the bacteria from the house. Usually only one serotype was found in each positive flock. Campylobacter occurrence increased with the age of the chickens at slaughter, and also with flock size.Univariable chi-square tests were done of the association between possible risk factors and Campylobacter prevalence. Factors associated with higher Campylobacter prevalence in flocks were lack of or diffuse hygiene barriers, increasing flock size, increasing age at slaughter, short vs. long empty periods, wet litter beds, other poultry nearby or staff handling other poultry, flocks divided before slaughter, staff loading to slaughter at several farms and occurrence of mice. Under Swedish conditions, water does not seem to be a source of infection for chickens. Origin and handling of day-old chickens, feed additives, houses and litter were not associated with higher Campylobacter prevalence.
|
|
| 22. |
- Blomstrand, Peter, et al.
(author)
-
Cardiovascular effects of dobutamine stress testing in women with suspected coronary artery disease
- 1996
-
In: Heart. - : BMJ Publishing Group Ltd. - 1355-6037 .- 1468-201X. ; 75:5, s. 463-468
-
Journal article (peer-reviewed)abstract
- Objective. To investigate the central and peripheral haemodynamic response to dobutamine stress testing in women with suspected ischaemic heart disease and to seek an explanation for the hypotension phenomenon. Design. 18 women aged 54-73 years were investigated with Doppler echocardiography and venous occlusion plethysmography during intravenous infusion of dobutamine 5-10 d after an episode of unstable angina. Results. An average peak dose of 33 (SD 9.7) μg/kg/min was given. Heart rate and cardiac output increased by 49% and 59%, respectively (P < 0.001). Total and leg peripheral vascular resistance decreased by 44% and 26%, respectively (P < 0.001). Four patients developed hypotension (decrease in systolic blood pressure > 10 mm Hg), one of whom had a paradoxical bradycardia and two a low increase in cardiac output. Patients with hypotension had a more pronounced decrease in total peripheral vascular resistance but a similar change in leg peripheral vascular resistance compared with patients without hypotension. Conclusions. Dobutamine infusion leads to marked peripheral vasodilatation and an increase in cardiac output. Some patients experience hypotension during the test for reasons which include paradoxical vasovagal reactions and diminished capacity for adequate increase in cardiac output. There is also a disparity between the pattern of total and leg peripheral vascular resistance in patients with hypotension which might reflect a baroreceptor mediated compensatory increase in vasoconstrictor tone of muscle vessels not matched in other vascular territories.
|
|
| 23. |
- Blomstrand, Peter, et al.
(author)
-
Exercise echocardiography : a methodological study comparing peak‐exercise and post‐exercise image information
- 1992
-
In: Clinical Physiology. - : John Wiley & Sons. - 0144-5979 .- 1365-2281. ; 12:5, s. 553-565
-
Journal article (peer-reviewed)abstract
- It is unclear whether echocardiography at peak bicycle exercise adds information to registrations obtained recumbent immediately after the test and what factors influence image quality. Therefore, exercise echocardiography was performed consecutively and prospectively in 66 men, unselected with regard to echocardiography, one month after an episode of unstable coronary artery disease. Of 594 segments (9 × 66), 569 (96%) were adequately visualized recumbent at rest. The corresponding figures recumbent directly after exercise, seated before exercise, and seated at peak exercise were 544 (92%), 474 (80%), and 428 (72%), respectively. In the majority of our patients, acceptable images at peak exercise were obtained for the septal region, while for the anterior, lateral, and inferior segments the success rate varied from 50 to 70%. Recumbent after exercise, the success rate was acceptable for most segments, possibly with the exception of the apical and lateral segments. Fifty‐five patients developed new wall motion abnormalities or worsening of wall motion in connection with exercise. Echocardiography at peak exercise provided more information than afterwards in patients with images of good quality. However, in patients with inferior image quality, the registrations obtained recumbent after the test revealed wall motion abnormalities which were not obtained seated at peak exercise. Patients with worse image quality had significantly higher respiratory rate and weight, and rated a higher degree of dyspnoea at peak exercise than those with good quality. We conclude that in middle aged men with coronary artery disease, image acquisition at peak bicycle exercise and immediately after exercise are of complementary value.
|
|
| 24. |
- Blomstrand, Peter, et al.
(author)
-
Exercise echocardiography and thallium 201 single-photon emission computed tomography in male patients after an episode of unstable coronary artery disease
- 1994
-
In: American Journal of Cardiac Imaging. - 0887-7971. ; 8:4, s. 283-289
-
Journal article (peer-reviewed)abstract
- To compare modern, digital exercise echocardiography and thallium 201 single-photon emission computed tomography (SPECT) in patients with unstable coronary artery disease, 65 men unselected with regard to echocardiography were prospectively investigated 1 month after an episode of unstable angina or non-Q-wave myocardial infarction. Exercise echocardiography and 201Tl SPECT were performed on consecutive days in connection with a standard symptom-limited upright bicycle test and analyzed in a 9-segment model. Coronary angiography was performed in all but 1 patient and 60 patients had significant coronary lesions. Wall motion abnormalities were seen in 53 patients (81%) at rest and perfusion defects in 57 patients (88%) at the redistribution images. New or worsening of wall motion abnormalities were seen in 55 patients, either seated at peak exercise or recumbent after exercise, and 43 patients had reversible or partially reversible 201Tl scintigraphic defects (P = .02). The segmental agreement between wall motion abnormalities and scintigraphic defects was low (58%). The additional value of exercise echocardiography and 201Tl SPECT to exercise test was greatest in patients with one-vessel disease. Thus, 1 month after an episode of unstable coronary artery disease in men, there is a high incidence of significant coronary stenoses as well as signs of ischemia shown both by wall motion abnormalities during exercise echocardiography and by postexercise studies with 201Tl SPECT. Exercise echocardiography gives a higher diagnostic yield regarding occurrence of reversible ischemia.
|
|
| 25. |
- Engvall, Jan, et al.
(author)
-
Adenosine stress myocardial perfusion detected with CT compared with attenuation-corrected SPECT
- 2011
-
In: EUROPEAN HEART JOURNAL SUPPLEMENTS. - : Oxford University Press. ; , s. A31-A31
-
Conference paper (peer-reviewed)abstract
- Purpose: To asses adenosine stress myocardial perfusion by cardiac CT and compare with simultaneously performed attenuation corrected SPECT.Methods: 11 patients, 9 men and 2 women >2months post primary PCI, with manifest myocardial damage and remaining stenoses in the coronary circulation, were studied with myocardial perfusion CT under vasodilatory stress. The investigation started with a topogram followed by a testbolus of iodine whereafter the coronary artery study was performed in sequence mode. Adenosine was then infused for at least five minutes at the standard rate of 140ug/kg/min. After three minutes, 6 MBq/kg of 99mTc-tetrofosmin was injected immediately followed by 80ml iodine contrast. The wash-in of iodine was monitored by CT scanning of a 7cm long cardiac volume segment every other second for 22s. One hour after the CT scan, myocardial SPECT was performed. Scanning required the patients to tolerate breath holding for 22s, have a heart rate <80/min and body weight <85kg, and their kidney function should allow 140ml 370mg iodine contrast to be given.Results: All 11 patients tolerated the full adenosine infusion and scanning was successful. One patient could not be analyzed due to noisy images. In two patients, the limited scanning volume did not cover the entire base of the heart. Three patients had no defect on SPECT. Patients with a defect had on average myocardial blood flow 80ml/100ml tissue/min in the defect area and 142ml in the segments with the highest perfusion, while patients without defect had 98 and 141ml, respectively.Conclusion: Peak myocardial perfusion may be determined with CT under adenosine stress and compared with attenuation corrected SPECT. Initial experience shows that the method is sensitive to timing of bolus, to noisy images and results may diverge from those obtained with SPECT.
|
|
| 26. |
- Engvall, Karin, et al.
(author)
-
A new multiple regression model to identify multi-family houses with a high prevalence of sick building symptoms "SBS", within the healthy sustainable house study in Stockholm (3H)
- 2010
-
In: International Archives of Occupational and Environmental Health. - : Springer Science and Business Media LLC. - 0340-0131 .- 1432-1246. ; 83:1, s. 85-94
-
Journal article (peer-reviewed)abstract
- PURPOSES: The aim was to develop a new model to identify residential buildings with higher frequencies of "SBS" than expected, "risk buildings". METHODS: In 2005, 481 multi-family buildings with 10,506 dwellings in Stockholm were studied by a new stratified random sampling. A standardised self-administered questionnaire was used to assess "SBS", atopy and personal factors. The response rate was 73%. Statistical analysis was performed by multiple logistic regressions. RESULTS: Dwellers owning their building reported less "SBS" than those renting. There was a strong relationship between socio-economic factors and ownership. The regression model, ended up with high explanatory values for age, gender, atopy and ownership. Applying our model, 9% of all residential buildings in Stockholm were classified as "risk buildings" with the highest proportion in houses built 1961-1975 (26%) and lowest in houses built 1985-1990 (4%). CONCLUSION: To identify "risk buildings", it is necessary to adjust for ownership and population characteristics.
|
|
| 27. |
|
|
| 28. |
|
|
| 29. |
|
|
| 30. |
- Fischer, H, et al.
(author)
-
C7, a novel nucleolar protein, is the mouse homologue of the Drosophila late puff product L82 and an isoform of human OXR1
- 2001
-
In: Biochemical and Biophysical Research Communications - BBRC. - : Elsevier BV. - 0006-291X .- 1090-2104. ; 281:3, s. 795-803
-
Journal article (peer-reviewed)abstract
- The C7 gene was identified in a project aimed to characterize differential gene expression upon attachment of cells to extracellular matrix proteins in vitro. C7 is the homologue of Drosophila L82, a late puff gene (Stowers et al. (1999) Dev. Biol. 213, 116-130) and human OXR1, a gene, which protects cells against oxidation (Volkert et al. (2000) Proc. Natl. Acad. Sci. USA 97, 14530-14535). All are transcribed into multiple splice forms with a common 3' domain. Additional members of this novel gene family are found in a number of eukaryotic species. In the mouse, the C7 gene is highly and broadly expressed during development in at least 4 splice forms, 3 of which were sequenced. In the adult, the C7 gene is most highly expressed in brain and testis. Antibodies to recombinant C7 protein localized to nucleoli in a variety of cell types, suggesting that C7 may be involved in the formation or function of this important organelle.
|
|
| 31. |
|
|
| 32. |
|
|
| 33. |
- Hammarström, Sten, et al.
(author)
-
Peter Perlmann 1919-2005
- 2006
-
In: Scandinavian journal of immunology. - : Wiley. - 0300-9475 .- 1365-3083. ; 63:6, s. 487-489
-
Journal article (peer-reviewed)
|
|
| 34. |
- Hikmat, Omar, et al.
(author)
-
Elevated cerebrospinal fluid protein in POLG-related epilepsy: Diagnostic and prognostic implications.
- 2018
-
In: Epilepsia. - : Wiley. - 1528-1167 .- 0013-9580. ; 59:8, s. 1595-1602
-
Journal article (peer-reviewed)abstract
- Epilepsy is common in individuals with mutations in POLG, the gene encoding the catalytic subunit of the mitochondrial DNA polymerase gamma. Early recognition and aggressive seizure management are crucial for patient survival. Disruption of the blood-brain barrier (BBB) is implicated in various neurological disorders including epilepsy. The aim of this study was to assess whether POLG-related disease is associated with BBB dysfunction and what clinical implications this has for patients.Our retrospective study used data from 83 patients with pathogenic POLG mutations from 4 countries--Norway, Sweden, Finland, and the United Kingdom. Data were collected using a structured questionnaire. We used the presence of raised cerebrospinal fluid (CSF) protein and a raised CSF/serum ratio of albumin (Q-alb) to evaluate the integrity of the blood-CSF barrier.Raised CSF protein was found in 70% of patients (n = 58/83) and appeared to be associated with the most severe phenotypes. In those in whom it was measured, the Q-alb ratio was markedly elevated (n = 18). The majority of those with epilepsy (n = 50/66, 76%) had raised CSF protein, and this preceded seizure debut in 75% (n = 15/20). The median survival time from symptom onset for those with raised CSF protein was decreased (13 months) compared to those with normal CSF protein (32 months).Our results indicate that there is disruption of the BBB in POLG-related disease, as evidenced by a raised CSF protein and Q-alb ratio. We also find that raised CSF protein is a common finding in patients with POLG disease. Our data suggest that the presence of BBB dysfunction predicts a poorer outcome, and elevated CSF protein may therefore be an additional biomarker both for early diagnosis and to identify those at high risk of developing epilepsy.
|
|
| 35. |
|
|
| 36. |
- Jennersjö, Pär E., et al.
(author)
-
Circadian blood pressure variation in patients with type 2 diabetes - relationship to macro- and microvascular subclinical organ damage
- 2011
-
In: Primary Care Diabetes. - : Elsevier. - 1751-9918 .- 1878-0210. ; 5:3, s. 167-173
-
Journal article (peer-reviewed)abstract
- AimsTo explore the association between nocturnal blood pressure (BP) dipper status and macro- and microvascular organ damage in type 2 diabetes.MethodsCross-sectional data from 663 patients with type 2 diabetes, aged 55–66 years, were analysed. Nurses measured office BP and ambulatory BP during 24 h. Individuals with ≥10% difference in nocturnal systolic blood pressure (SBP) relative to daytime values were defined as dippers. Non-dippers were defined as <10% nocturnal decrease in SBP. Estimated glomerular filtration rate (GFR) was calculated and microalbuminuria was measured by albumin:creatinine ratio (ACR). Aortic pulse wave velocity (PWV) was measured with applanation tonometry over the carotid and femoral arteries.ResultsWe identified 433 dippers and 230 subjects with a nocturnal non-dipping pattern. Nocturnal SBP dipping was independently of office SBP associated with decreased PWV (p = 0.008), lower ACR (p = 0.001) and NT-proBNP (p = 0.001) and increased GFR (p < 0.001).ConclusionsWe conclude that diurnal BP variation provides further information about early macro- and microvascular subclinical organ damage that goes beyond standardized office BP measurements in patients with type 2 diabetes.
|
|
| 37. |
|
|
| 38. |
|
|
| 39. |
- Karlsson, Jan-Erik, et al.
(author)
-
Mangafodipir as a cardioprotective adjunct to reperfusion therapy: a feasibility study in patients with ST-segment elevation myocardial infarction
- 2015
-
In: European Heart Journal - Cardiovascular Pharmacotherapy. - : European Society of Cardiology. - 2055-6837 .- 2055-6845. ; 1:1, s. 39-45
-
Journal article (peer-reviewed)abstract
- Aims The aim of the present study was to examine the feasibility of applying the catalytic antioxidant mangafodipir [MnDPDP, manganese (Mn) dipyridoxyl diphosphate] as a cardioprotective adjunct to primary percutaneous coronary intervention (pPCI) in patients with ST-segment elevation (STE) myocardial infarction (STEMI). Both MnDPDP and a metabolite (Mn dipyridoxyl ethyldiamine) possess properties as mitochondrial superoxide dismutase mimetics and iron chelators, and combat oxidative stress in various tissues and conditions.Methods and resultsThe study tested MnDPDP (n ¼ 10) vs. saline placebo (n ¼ 10), given as a brief intravenous (i.v.) infusion prior to balloon inflation during pPCI in patients with STEMI. Mangafodipir waswell tolerated and did not affect heart rate or blood pressure. Despite longer ischaemic time (205 vs. 144 min, P ¼ 0.019) in theMnDPDPgroup, plasma biomarker releaseswere identical for the two groups. With placebo vs.MnDPDP, mean STE resolutions were 69.8 vs. 81.9% (P ¼ 0.224) at 6 h and 73.1 vs. 84.3% (P ¼ 0.077) at 48 h. Cardiac magnetic resonance revealed mean infarct sizes of 32.5 vs. 26.2% (P ¼ 0.406) andmeanleft ventricular (LV) ejection fractions of 41.8 vs. 47.7% (P ¼ 0.617) with placebovs.MnDPDP.More LVthrombi were detected in placebo hearts (5 of 8) than MnDPDP-treated hearts (1 of 10; P ¼ 0.011).Conclusions Mangafodipir is a safe drug for use as an adjunct to reperfusion therapy. A tendency to benefit of MnDPDP needs confirmation in a larger population. The study revealed important information for the design of a Phase II trial.
|
|
| 40. |
- Olive, M, et al.
(author)
-
Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions
- 2019
-
In: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 1396-
-
Journal article (peer-reviewed)abstract
- Myoglobin, encoded by MB, is a small cytoplasmic globular hemoprotein highly expressed in cardiac myocytes and oxidative skeletal myofibers. Myoglobin binds O2, facilitates its intracellular transport and serves as a controller of nitric oxide and reactive oxygen species. Here, we identify a recurrent c.292C>T (p.His98Tyr) substitution in MB in fourteen members of six European families suffering from an autosomal dominant progressive myopathy with highly characteristic sarcoplasmic inclusions in skeletal and cardiac muscle. Myoglobinopathy manifests in adulthood with proximal and axial weakness that progresses to involve distal muscles and causes respiratory and cardiac failure. Biochemical characterization reveals that the mutant myoglobin has altered O2 binding, exhibits a faster heme dissociation rate and has a lower reduction potential compared to wild-type myoglobin. Preliminary studies show that mutant myoglobin may result in elevated superoxide levels at the cellular level. These data define a recognizable muscle disease associated with MB mutation.
|
|
| 41. |
|
|
| 42. |
|
|
| 43. |
- Pesonen, Ida, et al.
(author)
-
High prevalence of interstitial lung abnormalities in middle-aged never-smokers
- 2023
-
In: ERJ Open Research. - : European Respiratory Society. - 2312-0541. ; 9:5
-
Journal article (peer-reviewed)abstract
- BACKGROUND: Interstitial lung abnormalities (ILA) are incidental findings on chest computed tomography (CT). These patterns can present at an early stage of fibrotic lung disease. Our aim was to estimate the prevalence of ILA in the Swedish population, in particular in never-smokers, and find out its association with demographics, comorbidities and symptoms.METHODS: Participants were recruited to the Swedish CArdioPulmonary BioImage Study (SCAPIS), a population-based survey including men and women aged 50-64 years performed at six university hospitals in Sweden. CT scan, spirometry and questionnaires were performed. ILA were defined as cysts, ground-glass opacities, reticular abnormality, bronchiectasis and honeycombing.FINDINGS: Out of 29 521 participants, 14 487 were never-smokers and 14 380 were men. In the whole population, 2870 (9.7%) had ILA of which 134 (0.5%) were fibrotic. In never-smokers, the prevalence was 7.9% of which 0.3% were fibrotic. In the whole population, age, smoking history, chronic bronchitis, cancer, coronary artery calcium score and high-sensitive C-reactive protein were associated with ILA. Both ILA and fibrotic ILA were associated with restrictive spirometric pattern and impaired diffusing capacity of the lung for carbon monoxide. However, individuals with ILA did not report more symptoms compared with individuals without ILA.INTERPRETATION: ILA are common in a middle-aged Swedish population including never-smokers. ILA may be at risk of being underdiagnosed among never-smokers since they are not a target for screening.
|
|
| 44. |
- Rosendahl, Lene, et al.
(author)
-
Late gadolinium uptake demonstrated with magnetic resonance in patients where automated PERFIT analysis of myocardial SPECT suggests irreversible perfusion defect
- 2008
-
In: BMC Medical Imaging. - : BioMed Central. - 1471-2342. ; 8
-
Journal article (peer-reviewed)abstract
- BACKGROUND: Myocardial perfusion single photon emission computed tomography (MPS) is frequently used as the reference method for the determination of myocardial infarct size. PERFIT(R) is a software utilizing a three-dimensional gender specific, averaged heart model for the automatic evaluation of myocardial perfusion. The purpose of this study was to compare the perfusion defect size on MPS, assessed with PERFIT, with the hyperenhanced volume assessed by late gadolinium enhancement magnetic resonance imaging (LGE) and to relate their effect on the wall motion score index (WMSI) assessed with cine magnetic resonance imaging (cine-MRI) and echocardiography (echo).METHODS: LGE was performed in 40 patients where clinical MPS showed an irreversible uptake reduction suggesting a myocardial scar. Infarct volume, extent and major coronary supply were compared between MPS and LGE as well as the relationship between infarct size from both methods and WMSI.RESULTS: MPS showed a slightly larger infarct volume than LGE (MPS 29.6 +/- 23.2 ml, LGE 22.1 +/- 16.9 ml, p = 0.01), while no significant difference was found in infarct extent (MPS 11.7 +/- 9.4%, LGE 13.0 +/- 9.6%). The correlation coefficients between methods in respect to infarct size and infarct extent were 0.71 and 0.63 respectively. WMSI determined with cine-MRI correlated moderately with infarct volume and infarct extent (cine-MRI vs MPS volume r = 0.71, extent r = 0.71, cine-MRI vs LGE volume r = 0.62, extent r = 0.60). Similar results were achieved when wall motion was determined with echo. Both MPS and LGE showed the same major coronary supply to the infarct area in a majority of patients, Kappa = 0.84.CONCLUSION: MPS and LGE agree moderately in the determination of infarct size in both absolute and relative terms, although infarct volume is slightly larger with MPS. The correlation between WMSI and infarct size is moderate.
|
|
| 45. |
- Rosendahl, Lene, 1963-, et al.
(author)
-
Longitudinal peak strain detects a smaller risk area than visual assessment of wall motion in acute myocardial infarction
- 2010
-
In: Cardiovascular Ultrasound. - : BioMed Central (BMC). - 1476-7120. ; 8:1
-
Journal article (peer-reviewed)abstract
- Background. Opening of an occluded infarct related artery reduces infarct size and improves survival in acute ST-elevation myocardial infarction (STEMI). In this study we performed tissue Doppler analysis (peak strain, displacement, mitral annular movement (MAM)) and compared with visual assessment for the study of the correlation of measurements of global, regional and segmental function with final infarct size and transmurality. In addition, myocardial risk area was determined and a prediction sought for the development of infarct transmurality 50%.Methods. Twenty six patients with STEMI submitted for primary percutaneous coronary intervention (PCI) were examined with echocardiography on the catheterization table. Four to eight weeks later repeat echocardiography was performed for reassessment of function and magnetic resonance imaging for the determination of final infarct size and transmurality.Results. On a global level, wall motion score index (WMSI), ejection fraction (EF), strain, and displacement all showed significant differences (p ≤ 0.001, p ≤ 0.001, p ≤ 0.001 and p = 0.03) between the two study visits, but MAM did not (p = 0.17). On all levels (global, regional and segmental) and both pre- and post PCI, WMSI showed a higher correlation with scar transmurality compared to strain. We found that both strain and WMSI predicted the development of scar transmurality 50%, but strain added no significant information to that obtained with WMSI in a logistic regression analysis.Conclusions. In patients with acute STEMI, WMSI, EF, strain, and displacement showed significant changes between the pre- and post PCI exam. In a ROC-analysis, strain had 64% sensitivity at 80% specificity and WMSI around 90% sensitivity at 80% specificity for the detection of scar with transmurality 50% at follow-up.
|
|
| 46. |
|
|
| 47. |
|
|
| 48. |
- Torén, Kjell, 1952, et al.
(author)
-
Chronic airflow limitation and its relation to respiratory symptoms among ever-smokers and never-smokers: a cross-sectional study
- 2020
-
In: Bmj Open Respiratory Research. - : BMJ. - 2052-4439. ; 7:1
-
Journal article (peer-reviewed)abstract
- Background The diagnosis of chronic obstructive pulmonary disease is based on the presence of persistent respiratory symptoms and chronic airflow limitation (CAL). CAL is based on the ratio of forced expiratory volume in 1 s to forced vital capacity (FEV1:FVC) after bronchodilation, and FEV1:FVC less than the fifth percentile is often used as a cut-off for CAL. The aim was to investigate if increasing percentiles of FEV1:FVC were associated withany respiratory symptom(cough with phlegm, dyspnoea or wheezing) in a general population sample of never-smokers and ever-smokers. Methods In a cross-sectional study comprising 15 128 adults (50-64 years), 7120 never-smokers and 8008 ever-smokers completed a respiratory questionnaire and performed FEV(1)and FVC after bronchodilation. We calculated theirz-scores for FEV1:FVC and defined the fifth percentile using the Global Lung Function Initiative (GLI) reference value, GLI(5)and increasing percentiles up to GLI(25). We analysed the associations between different strata of percentiles and prevalence ofany respiratory symptomusing multivariable logistic regression for estimation of OR. Results Among all subjects, regardless of smoking habits, the odds ofany respiratory symptomwere elevated up to the GLI(15-20)strata. Among never-smokers, the odds ofany respiratory symptomwere elevated at GLI(<5)(OR 3.57, 95% CI 2.43 to 5.23) and at GLI(5-10)(OR 2.57, 95% CI 1.69 to 3.91), but not at higher percentiles. Among ever-smokers, the odds ofany respiratory symptomwere elevated from GLI(<5)(OR 4.64, 95% CI 3.79 to 5.68) up to GLI(>= 25)(OR 1.33, 95% CI 1.00 to 1.75). Conclusions The association between percentages of FEV1:FVC and respiratory symptoms differed depending on smoking history. Our results support a higher percentile cut-off for FEV1:FVC for never-smokers and, in particular, for ever-smokers.
|
|
| 49. |
|
|
| 50. |
|
|
