| 1. |
- Biollaz, S., et al.
(författare)
-
Gas analysis in gasification of biomass and waste : Guideline report: Document 1
- 2018
-
Rapport (refereegranskat)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.
|
|
| 2. |
- Biollaz, S., et al.
(författare)
-
Gas analysis in gasification of biomass and waste : Guideline report: Document 2 - Factsheets on gas analysis techniques
- 2018
-
Rapport (refereegranskat)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.
|
|
| 3. |
- Aumailley, M, et al.
(författare)
-
A simplified laminin nomenclature
- 2005
-
Ingår i: Matrix Biology. - : Elsevier BV. - 1569-1802 .- 0945-053X. ; 24:5, s. 326-332
-
Forskningsöversikt (refereegranskat)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.
|
|
| 4. |
|
|
| 5. |
- Kylhammar, D., et al.
(författare)
-
Global longitudinal strain and mechanical dispersion in the general population aged 50-64 years - results from the echocardiography study of the Swedish CArdioPulmonary bioImage Study (SCAPIS)
- 2019
-
Ingår i: European Heart Journal. - : Oxford University Press. - 0195-668X .- 1522-9645. ; 40:1, s. 1859-1859
-
Tidskriftsartikel (refereegranskat)abstract
- BackgroundThe Swedish CArdioPulmonary bioImage Study (SCAPIS) was initiated to improve understanding of underlying mechanisms in order to prevent cardiovascular and pulmonary disease. 30 000 individuals aged 50–64 years, randomly selected from the general population, were included in the study. Six-thousand-eight-hundred of the individuals underwent transthoracic echocardiography.Global longitudinal strain (GLS) and mechanical dispersion (MD) are novel echocardiographic measures of left ventricular (LV) systolic function and electrical instability reflecting risk for malignant arrhythmia, respectively. Previous studies suggest that the limit of normal for GLS is −16% and that MD >70 ms may be associated with increased risk for malignant arrhythmias. GLS and MD have, however, not before been investigated in a large population-based study.PurposeThe purpose of this first project within the SCAPIS echocardiography study is to determine the prevalence of impaired GLS and MD in the general population aged 50–64 years.MethodsGLS and MD, defined as mean peak longitudinal strain of the 18 LV segments and standard deviation of time-to-peak strain for the 18 LV segments, respectively, were analysed using a commercially available software. For group comparisons, the independent-samples t-test, the Mann-Whitney U-test or One Way Analysis of Variance with the Bonferroni post hoc test were performed. Values are mean±standard deviation.Results1850 examinations have so far been reviewed, whereof image quality was considered adequate for strain analysis in 1480 individuals (80%). Image quality, assessed as the number of visually assessable LV segments, was better for the second half of the examinations, as compared to the first half (p<0.001). Of the 1480 individuals where GLS and MD were assessed, 51% were women and mean age was 57±4.4 years with no difference in age between the sexes (p=ns). Mean GLS was −20±2% and men had significantly more negative (p<0.001) GLS values than women (−21±2% vs. −19±2%). There was no significant difference (p=ns) in GLS when comparing individuals aged 50–54, 55–59 or 60–64 years, respectively. GLS values were less negative than −16% in 1.9% of the study population. Mean MD was 41±12 ms with no significant difference (p=ns) between the sexes. MD was significantly lower (p<0.001) among individuals aged 50–54 years, as compared to those aged 55–59 or 60–64 years, respectively. MD was >70 ms in 1.6% of the study population.ConclusionsThese preliminary data from the SCAPIS echocardiography study suggest that, in the general population aged 50–64 years, 1.9% have impaired GLS and 1.6% have increased MD, which is possibly associated with a higher risk for malignant arrhythmias. Men had more negative GLS values than women and MD was lower in the lowest age tertile. Further analyses are ongoing.Acknowledgement/FundingThe Swedish Heart and Lung Foundation. Grants from Linkoping University. ALF-grants from the Swedish government (LIO-700841).
|
|
| 6. |
|
|
| 7. |
|
|
| 8. |
|
|
| 9. |
|
|
| 10. |
- Blomstrand, Peter, et al.
(författare)
-
Exercise echocardiography : a methodological study comparing peak‐exercise and post‐exercise image information
- 1992
-
Ingår i: Clinical Physiology. - : John Wiley & Sons. - 0144-5979 .- 1365-2281. ; 12:5, s. 553-565
-
Tidskriftsartikel (refereegranskat)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.
|
|
| 11. |
- Blomstrand, Peter, et al.
(författare)
-
Exercise echocardiography and thallium 201 single-photon emission computed tomography in male patients after an episode of unstable coronary artery disease
- 1994
-
Ingår i: American Journal of Cardiac Imaging. - 0887-7971. ; 8:4, s. 283-289
-
Tidskriftsartikel (refereegranskat)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.
|
|
| 12. |
|
|
| 13. |
|
|
| 14. |
|
|
| 15. |
- Golda-Cepa, M., et al.
(författare)
-
Multifunctional PLGA/Parylene C Coating for Implant Materials : An Integral Approach for Biointerface Optimization
- 2016
-
Ingår i: ACS Applied Materials and Interfaces. - : American Chemical Society (ACS). - 1944-8244 .- 1944-8252. ; 8:34, s. 22093-22105
-
Tidskriftsartikel (refereegranskat)abstract
- Functionalizing implant surfaces is critical for improving their performance. An integrated approach was employed to develop a multifunctional implant:coating based on oxygen plasma-modified parylene C and drug-loaded, biodegradable poly(DL-lactide-co-glycolide) (PLGA). The key functional attributes of the coating (i.e., anti-corrosion, biocompatible, anti-infection, and therapeutic) were thoroughly characterized at each fabrication step by spectroscopic, microscopic, and biologic methods and at different scales, ranging from molecular, through the nano- and microscales to the macroscopic scale. The chemistry of each layer was demonstrated separately, and their mutual affinity was shown to be indispensable for the development of versatile coatings, for implant applications.
|
|
| 16. |
- González Arcos, Angélica Viviana, et al.
(författare)
-
Promoted RhPt bimetallic catalyst supported on δ-Al2O3 and CeO2-ZrO2 during full-scale autothermal reforming for automotive applications: Post-mortem characterization
- 2015
-
Ingår i: Applied Catalysis A. - : Angélica González. - 0926-860X .- 1873-3875. ; 491, s. 8-16
-
Tidskriftsartikel (refereegranskat)abstract
- The influence of sulfur and coke formation on the steam reforming of diesel was evaluated for two promoted RhPt bimetallic catalysts, composed of 1:1 Rh:Pt/10:10 La2O3: CeO2/ δ-Al2O3 (CAT 1) and 1:1 Rh:Pt/4:5 MgO: Y2O3/CeO2 − ZrO2 (CAT 2). The intrinsic activity is related to the total Rh and Pt area observed after the exposure to sulfur. Therefore, the degree of deactivation is related to the amount of sulfur deposited on the active metal sites. Sulfur analysis on the aged catalyst washcoat showed a decreasing sulfur concentration in the axial direction of the reformer. The estimated sulfur coverage related to metal surface area after 40 h on stream reached values of 0.145 in CAT 2, below the equilibrated sulfur coverage of 0.19 after tests with DIN 590. Thus, showing a partial deactivation due to sulfur poisoning. Further catalyst characterization on carbon deposits and thermal aging was performed by TPO, TGA, BET, CO chemisorption, and TEM analysis.
|
|
| 17. |
- Hanson, S, et al.
(författare)
-
Case management and patient reactions: a study of STD care in a province in Zambia
- 1997
-
Ingår i: International journal of STD & AIDS. - : SAGE Publications. - 0956-4624 .- 1758-1052. ; 8:5, s. 320-328
-
Tidskriftsartikel (refereegranskat)abstract
- Sexually transmitted disease (STD) case management was evaluated through observation and interviews at 2 urban and 4 rural health centres and 2 district hospital STD clinics in one urban and 2 rural districts in Central Province, Zambia. The analysis was limited to 59 patients (42 men and 17 women) who paid first visits for their disease and were managed by a clinical officer. The evaluation suffered from the lack of a standard for case management. Results showed that the patients engaged in risky sexual behaviour without being aware of the risks. At the health institutions, few patients were informed about condoms, the risk of HIV, and abstinence from sex during treatment and few were asked to notify their partners. Clinical officers with special STD training performed better than others but sill informed only one-fifth of the patients. Few clinical officers managed patients according to the syndromic approach recommended by the STD control programme.
|
|
| 18. |
- Hult, L., et al.
(författare)
-
Post systolic shortening by speckle tracking echocardiography as a predictor for cardiovascular events in patients with type 2 diabetes
- 2022
-
Ingår i: European Heart Journal. - : Oxford University Press. - 0195-668X .- 1522-9645. ; 43, s. 923-923
-
Tidskriftsartikel (refereegranskat)abstract
- Background: Post systolic shortening (PSS), measured by speckle tracking echocardiography has emerged as a novel method to evaluate left ventricular function and has been linked to adverse outcomes. Purpose: Our aim was to assess if the presence of pathological PSS had prognostic value in the prediction of major cardiovascular events in a cohort of patients with type-II diabetes (T2D). Method: Three-hundred-and-sixty-four patients with T2D in the CARDIPP study (Cardiovascular Risk factors in Patients with Diabetes – a Prospective study in Primary care) underwent echocardiography between 2005 and 2009. All patients were evaluated with strain analysis by speckle tracking. PSS was defined as any myocardial contraction occurring after aortic valve closure (Figure 1). Pathological PSS was defined as a post systolic index (PSI) >5% where PSI was calculated as: (peak global longitudinal strain – peak systolic longitudinal strain) / (peak global longitudinal strain) x 100. The composite endpoint of any major cardiovascular event (MACE) was defined as the diagnosis of or death in heart failure, myocardial infarction, or stroke. Cox proportional hazard ratios (HR) with 95% confidence intervals were calculated and were adjusted for sex, age, body mass index, hypertension, smoking, previous cardiovascular events and HbA1c. Results: Mean follow-up time was 11.2±2.3 years. Patients with pathological PSS had an increased unadjusted risk of MACE, (HR 3.73, 95% CI 2.06–6.76), which persisted after adjustment (HR 2.20, 95% CI 1.11–4.37) as compared to subjects without pathological PSS. When adding PSS to a risk prediction model including Global Longitudinal Strain (GLS), the adjusted HR (95% CI) for MACE was 2.94 (1.33–6.52) for subjects with reduced GLS (lower limit of normal −16%) and PSI >5%, compared to those with normal GLS and PSI ≤5%. Adverse events were more common in subjects with the combination of pathological PSS and GLS (Figure 2). Conclusions: Our results suggest that PSS may provide important additional prognostic information in patients with T2D.
|
|
| 19. |
|
|
| 20. |
|
|
| 21. |
|
|
| 22. |
|
|
| 23. |
- Olive, M, et al.
(författare)
-
Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions
- 2019
-
Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 1396-
-
Tidskriftsartikel (refereegranskat)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.
|
|
| 24. |
|
|
| 25. |
- Torén, Kjell, 1952, et al.
(författare)
-
Chronic airflow limitation and its relation to respiratory symptoms among ever-smokers and never-smokers: a cross-sectional study
- 2020
-
Ingår i: Bmj Open Respiratory Research. - : BMJ. - 2052-4439. ; 7:1
-
Tidskriftsartikel (refereegranskat)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.
|
|
| 26. |
|
|
| 27. |
- Alm, Sofie J., 1988, et al.
(författare)
-
Minimal residual disease monitoring in childhood B lymphoblastic leukemia with t(12;21)(p13;q22); ETV6-RUNX1: concordant results using quantitation of fusion transcript and flow cytometry.
- 2017
-
Ingår i: International journal of laboratory hematology. - : Wiley. - 1751-553X .- 1751-5521. ; 39:2, s. 121-128
-
Tidskriftsartikel (refereegranskat)abstract
- The translocation t(12;21)(p13;q22) resulting in the fusion gene ETV6-RUNX1, is the most frequent gene fusion in childhood B lymphoblastic leukemia. In the Nordic Society of Paediatric Haematology and Oncology ALL-2008 treatment protocol, treatment stratification in B-lineage ALL is based on results of minimal residual disease (MRD) analysis with fluorescence-activated cell sorting (FACS). In this study, we determined whether RT-qPCR of the ETV6-RUNX1 fusion transcript can be a reliable alternative for MRD analysis.Seventy-eight bone marrow samples from 29 children at diagnosis and day 15, 29, and 78 during treatment were analyzed for MRD with FACS and with quantitative reverse transcription polymerase chain reaction (RT-qPCR). Fusion transcript MRD was defined as the ETV6-RUNX1/GUSB ratio at the follow-up time point (day 15/29/78) divided with the ETV6-RUNX1/GUSB ratio at diagnosis (%).MRD analysis with FACS and with RT-qPCR of ETV6-RUNX1 fusion transcript showed strong correlation. All cases showed concordant results at the treatment stratifying time points day 29 and day 78, when comparing the two methods with a cutoff set to 0.1%.RT-qPCR is a valuable addition and could also be an alternative to FACS in cases where FACS is not achievable for MRD analysis.
|
|
| 28. |
|
|
| 29. |
- Ask, Per, et al.
(författare)
-
THEORETICAL AND EXPERIMENTAL-ANALYSIS OF AORTIC COARCTATION
- 1989
-
Ingår i: IMAGES OF THE TWENTY-FIRST CENTURY, PTS 1-6. ; , s. 103-103
-
Konferensbidrag (refereegranskat)abstract
- Aortic coarctation, which could severely influence the haemodynamic conditions of the body, is discussed. A theory has been developed which relates the pressure drop over the coarctation to the flow. This theory indicates that the pressure drop across the actual coarctation is related to the flow squared. For the collateral flow the expected pressure drop is either linearly or quadratically related to the flow. Model experiments and patient data support the present theoretical model
|
|
| 30. |
|
|
| 31. |
- Bergström, Göran, 1964, et al.
(författare)
-
Body weight at age 20 and in midlife is more important than weight gain for coronary atherosclerosis: Results from SCAPIS.
- 2023
-
Ingår i: Atherosclerosis. - : Elsevier BV. - 1879-1484 .- 0021-9150. ; 373, s. 46-54
-
Tidskriftsartikel (refereegranskat)abstract
- Elevated body weight in adolescence is associated with early cardiovascular disease, but whether this association is traceable to weight in early adulthood, weight in midlife or to weight gain is not known. The aim of this study is to assess the risk of midlife coronary atherosclerosis being associated with body weight at age 20, body weight in midlife and body weight change.We used data from 25,181 participants with no previous myocardial infarction or cardiac procedure in the Swedish CArdioPulmonary bioImage Study (SCAPIS, mean age 57 years, 51% women). Data on coronary atherosclerosis, self-reported body weight at age 20 and measured midlife weight were recorded together with potential confounders and mediators. Coronary atherosclerosis was assessed using coronary computed tomography angiography (CCTA) and expressed as segment involvement score (SIS).The probability of having coronary atherosclerosis was markedly higher with increasing weight at age 20 and with mid-life weight (p<0.001 for both sexes). However, weight increase from age 20 until mid-life was only modestly associated with coronary atherosclerosis. The association between weight gain and coronary atherosclerosis was mainly seen in men. However, no significant sex difference could be detected when adjusting for the 10-year delay in disease development in women.Similar in men and women, weight at age 20 and weight in midlife are strongly related to coronary atherosclerosis while weight increase from age 20 until midlife is only modestly related to coronary atherosclerosis.
|
|
| 32. |
- Bjursell, Magnus K., et al.
(författare)
-
Adenosine Kinase Deficiency Disrupts the Methionine Cycle and Causes Hypermethioninemia, Encephalopathy, and Abnormal Liver Function
- 2011
-
Ingår i: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 89:4, s. 507-515
-
Tidskriftsartikel (refereegranskat)abstract
- Four inborn errors of metabolism (IEMs) are known to cause hypermethioninemia by directly interfering with the methionine cycle. Hypermethioninemia is occasionally discovered incidentally, but it is often disregarded as an unspecific finding, particularly if liver disease is involved. In many individuals the hypermethioninemia resolves without further deterioration, but it can also represent an early sign of a severe, progressive neurodevelopmental disorder. Further investigation of unclear hypermethioninemia is therefore important. We studied two siblings affected by severe developmental delay and liver dysfunction. Biochemical analysis revealed increased plasma levels of methionine, S-adenosylmethionine (Ado Met), and S-adenosylhomocysteine (AdoHcy) but normal or mildly elevated homocysteine (Hcy) levels, indicating a block in the methionine cycle. We excluded S-adenosylhomocysteine hydrolase (SAHH) deficiency, which causes a similar biochemical phenotype, by using genetic and biochemical techniques and hypothesized that there was a functional block in the SAHH enzyme as a result of a recessive mutation in a different gene. Using exome sequencing, we identified a homozygous c.902C>A (p.Ala301Glu) missense mutation in the adenosine kinase gene (ADK), the function of which fits perfectly with this hypothesis. Increased urinary adenosine excretion confirmed ADK deficiency in the siblings. Four additional individuals from two unrelated families with a similar presentation were identified and shown to have a homozygous c.653A>C (p.Asp218Ala) and c.38G>A (p.Gly13Glu) mutation, respectively, in the same gene. All three missense mutations were deleterious, as shown by activity measurements on recombinant enzymes. ADK deficiency is a previously undescribed, severe IEM shedding light on a functional link between the methionine cycle and adenosine metabolism.
|
|
| 33. |
- Blomstrand, Peter, et al.
(författare)
-
Cardiovascular effects of dobutamine stress testing in women with suspected coronary artery disease
- 1996
-
Ingår i: Heart. - : BMJ Publishing Group Ltd. - 1355-6037 .- 1468-201X. ; 75:5, s. 463-468
-
Tidskriftsartikel (refereegranskat)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.
|
|
| 34. |
|
|
| 35. |
|
|
| 36. |
- Ekblom Bak, Elin, 1981-, et al.
(författare)
-
Accelerometer derived physical activity patterns in 27.890 middle‐aged adults : The SCAPIS cohort study
- 2022
-
Ingår i: Scandinavian Journal of Medicine and Science in Sports. - : John Wiley & Sons. - 0905-7188 .- 1600-0838. ; 32:5, s. 866-880
-
Tidskriftsartikel (refereegranskat)abstract
- The present study aims to describe accelerometer-assessed physical activity (PA) patterns and fulfillment of PA recommendations in a large sample of middle-aged men and women, and to study differences between subgroups of socio-demographic, socio-economic, and lifestyle-related variables. A total of 27 890 (92.5% of total participants, 52% women, aged 50–64 years) middle-aged men and women with at least four days of valid hip-worn accelerometer data (Actigraph GT3X+, wGT3X+ and wGT3X-BT) from the Swedish CArdioPulmonary bioImage Study, SCAPIS, were included. In total, 54.5% of daily wear time was spent sedentary, 39.1% in low, 5.4% in moderate, and only 0.1% in vigorous PA. Male sex, higher education, low financial strain, born in Sweden, and sedentary/light working situation were related to higher sedentary time, but also higher levels of vigorous PA. High BMI and having multiple chronic diseases associated strongly with higher sedentary time and less time in all three PA intensities. All-year physically active commuters had an overall more active PA pattern. The proportion fulfilling current PA recommendations varied substantially (1.4% to 92.2%) depending on data handling procedures and definition used. Twenty-eight percent was defined as having an “at-risk” behavior, which included both high sedentary time and low vigorous PA. In this large population-based sample, a majority of time was spent sedentary and only a fraction in vigorous PA, with clinically important variations between subgroups. This study provides important reference material and emphasizes the importance of a comprehensive assessment of all aspects of the individual PA pattern in future research and clinical practice.
|
|
| 37. |
|
|
| 38. |
- Engström, Gunnar, et al.
(författare)
-
Pulmonary function and atherosclerosis in the general population : causal associations and clinical implications
- 2024
-
Ingår i: European Journal of Epidemiology. - : Springer Nature. - 0393-2990 .- 1573-7284. ; 39:1, s. 35-49
-
Tidskriftsartikel (refereegranskat)abstract
- Reduced lung function is associated with cardiovascular mortality, but the relationships with atherosclerosis are unclear. The population-based Swedish CArdioPulmonary BioImage study measured lung function, emphysema, coronary CT angiography, coronary calcium, carotid plaques and ankle-brachial index in 29,593 men and women aged 50–64 years. The results were confirmed using 2-sample Mendelian randomization. Lower lung function and emphysema were associated with more atherosclerosis, but these relationships were attenuated after adjustment for cardiovascular risk factors. Lung function was not associated with coronary atherosclerosis in 14,524 never-smokers. No potentially causal effect of lung function on atherosclerosis, or vice versa, was found in the 2-sample Mendelian randomization analysis. Here we show that reduced lung function and atherosclerosis are correlated in the population, but probably not causally related. Assessing lung function in addition to conventional cardiovascular risk factors to gauge risk of subclinical atherosclerosis is probably not meaningful, but low lung function found by chance should alert for atherosclerosis.
|
|
| 39. |
- Engvall, Erik K, 1984, et al.
(författare)
-
A study of uncertainty models in a reverberation chamber at NIST
- 2012
-
Ingår i: IEEE Antennas and Propagation Society, AP-S International Symposium (Digest). - 1522-3965. - 9781467304627
-
Konferensbidrag (refereegranskat)abstract
- The reverberation chamber has become a good alternative for over-the-air (OTA) testing of small antennas. Here the uncertainty of total radiated power measurements is evaluated for a reverberation chamber at National Institute of Standards and Technology (NIST), Boulder, Colorado. A procedure for measuring the uncertainty based on the standard deviation of nine different antenna orientations in the RC has been used.
|
|
| 40. |
- Engvall, Klas, et al.
(författare)
-
Upgrading of raw gas from biomass and waste gasification : Challenges and opportunities
- 2011
-
Ingår i: Topics in catalysis. - : Springer-Verlag New York. - 1022-5528 .- 1572-9028. ; 54:13-15, s. 949-959
-
Forskningsöversikt (refereegranskat)abstract
- The depletion of fossil fuel-based resources and concerns for increasing emissions of CO2 call for newways of producing environmentally- friendly substitutes for motor fuels and chemicals. Thermo-chemical conversion of biomass andwaste using gasification is a strong candidate tomeet these challenges. For efficient and cost-effective application of this technique, novel solutions for hot gas cleaning are needed. This review highlights some important areas for improvement of upgrading technologies for pressurised fluidised bed gasification systems using biomass as a fuel.
|
|
| 41. |
|
|
| 42. |
- González Arcos, Angélica Viviana, 1986-
(författare)
-
RhPt and Ni based catalysts for fuel reforming in energy conversion
- 2015
-
Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- Although current trends in global warming are of great concern, energy demand is still increasing, resulting in increasing pollutant emissions. To address this issue, we need reliable renewable energy sources, lowered pollutant emissions, and efficient and profitable processes for energy conversion. We also need to improve the use of the energy, produced by existing infrastructure. Consequently, the work presented in this thesis aims at investigating current scientific and technological challenges in energy conversion through biomass gasification and the alternative use of fossil fuels, such as diesel, in the generation of cleaner electricity through auxiliary power units in the transportsector. Production of chemicals, syngas, and renewable fuels is highly dependent on the development and innovation of catalytic processes within these applications. This thesis focuses on the development and optimization of catalytic technologies in these areas. One of the limitations in the commercialization of the biomass gasification technology is the effective catalytic conversion of tars, formed during gasification. Biomass contains high amounts of alkali impurities, which pass on to the producer gas. Therefore, a new material with alkali tolerance is needed.In the scope of this thesis, a new catalyst support, KxWO3 – ZrO2 with high alkali resistance was developed. The dynamic capability of KxWO3 – ZrO2 to store alkali metals in the crystal structure, enhances the capture of alkali metals "in situ". Alkali metals are also important electronic promoters for the active phase, which usually increases the catalysts activity and selectivity for certain products. Experimental results show that conversion of 1-methylnaphathalene over Ni/KxWO3 – ZrO2 increases in the presence of 2 ppm of gas-phase K (Paper I). This support is considered to contribute to the electronic equilibrium within the metal/support interface, when certain amounts of alkali metals are present. The potential use of this support can be extended to applications in which alkali "storage-release" properties are required, i.e. processes with high alkali content in the process flow, to enhance catalyst lifetime and regeneration.In addition, fundamental studies to understand the adsorption geometry of naphthalene with increasing temperature were performed in a single crystal of Ni(111) by STM analyses. Chapter 9 presents preliminary studies on the adsorption geometry of the molecule, as well as DFT calculations of the adsorption energy. In relation to the use of clean energy for transport applications, hydrogen generation through ATR for FC-APUs is presented in Papers II to V. Two promoted RhPt bimetallic catalysts were selected in a previous bench scale study, supported on La2O3:CeO2/d – Al2O3 and MgO : Y2O3/CeO2 – ZrO2. Catalyst evaluation was performed in a fullscale reformer under real operating conditions. Results showed increased catalyst activity after the second monolithic catalyst due to the effect of steam reforming, WGS reaction, and higher catalyst reducibility of the RhxOy species in the CeO2 – ZrO2 mixed oxide, as a result of the improved redox properties. The influence of sulfur and coke formation on diesel reforming was assessed after 40 h on stream. Sulfur poisoning was evaluated for the intrinsic activity related to the total Rh and Pt area observed after exposure to sulfur. Sulfur concentration in the aged catalyst washcoat was observed to decrease in the axial direction of the reformer. Estimations of the amount of sulfur adsorbed were found to be below the theoretical equilibrated coverage on Rh and Pt, thus showing a partial deactivation due to sulfur poisoning.
|
|
| 43. |
- H. Moud, Pouya, et al.
(författare)
-
Biomass pyrolysis gas conditioning over an iron-based catalyst for mild deoxygenation and hydrogen production
- 2017
-
Ingår i: Fuel. - : Elsevier BV. - 0016-2361 .- 1873-7153. ; 211, s. 149-158
-
Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- Bio-crude is a renewable source for production of valuable energy carriers. Prior to its utilization, a conditioning step of the raw pyrolysis gas can be beneficial before the bio-crude is converted via catalytic hydrodeoxygenation (HDO) into liquid hydrocarbon products, or via steam reforming (SR) to synthesis gas/hydrogen. An experimental small industrial scale study for the chemistry of atmospheric pressure pyrolysis gas conditioning resulting in bio-crude deoxygenation and a hydrogen-rich gas using an iron-based catalyst without addition of hydrogen or steam is presented and discussed. Following a short catalyst stabilization period with fluctuating bed temperatures, the catalyst operated near 450°C at a space velocity of 1100 h-1 for 8 hours under stable conditions during which no significant catalyst deactivation was observed. Experimental results indicate a 70-80% reduction of acetic acid, methoxy phenols, and catechol, and a 55-65% reduction in non-aromatic ketones, BTX, and heterocycles. Alkyl phenols and phenols were least affected, showing a 30-35% reduction. Conditioning of the pyrolysis gas resulted in a 56 % and a 18 wt% increase in water and permanent (dry) gas yield, respectively, and a 29 % loss of condensable carbon. A significant reduction of CO amount (-38 %), and production of H2 (+1063 %) and CO2 (+36 %) over the catalyst was achieved, while there was no or minimal change in light hydrocarbon content. Probing the catalyst after the test, the bulk phase of the catalyst was found to be magnetite (Fe3O4) and the catalyst exhibited significant water gas shift (WGS) reaction activity. The measured gas composition during the test was indicative of no or very limited Fischer-Tropsch (FT) CO /CO2 hydrogenation activity and this infers that also the active surface phase of the catalyst during the test was Fe-oxide, rather than Fe-carbide. The results show that iron-based materials are potential candidates for application in a pyrolysis gas pre-conditioning step before further treatment or use, and a way of generating a hydrogen-enriched gas without the need for bio-crude condensation.
|
|
| 44. |
- H. Moud, Pouya
(författare)
-
Catalytic Conversion of Undesired Organic Compounds to Syngas in Biomass Gasification and Pyrolysis Applications
- 2017
-
Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- Reliable energy supply is a major concern and crucial for development of the global society. To address the dependency on fossil fuel and the negative effects of this reliance on climate, there is a need for a transition to cleaner sources. An attractive solution for replacing fossil-based products is renewable substitutes produced from biomass. Gasification and pyrolysis are two promising thermochemical conversion technologies, facing challenges before large-scale commercialization becomes viable. In case of biomass gasification, tar is often and undesired by-product. An attractive option to convert tar into syngas is nickel-based catalytic steam reforming (SR). For biomass pyrolysis, catalytic SR is in early stages of investigation as a feasible option for bio-crude conversion to syngas.The focus of the thesis is partly dedicated to describe research aimed at increasing the knowledge around tar reforming mechanisms and effect of biomass-derived impurities on Ni-based tar reforming catalyst downstream of gasifiers. The work focuses on better understanding of gas-phase alkali interaction with Ni-based catalyst surface under realistic conditions. A methodology was successfully developed to enable controlled investigation of the combined sulfur (S) and potassium (K) interaction with the catalyst. The most striking result was that K appears to lower the sulfur coverage and increases methane and tar reforming activity. Additionally, the results obtained in the atomistic investigations are discussed in terms of naphthalene adsorption, dehydrogenation and carbon passivation of nickel.Furthermore, the thesis describes research performed on pyrolysis gas pre-conditioning at a small-industrial scale, using an iron-based catalyst. Findings showed that Fe-based materials are potential candidates for application in a pyrolysis gas pre-conditioning step before further treatment or use, and a way for generating a hydrogen-enriched gas without the need for bio-crude condensation.
|
|
| 45. |
- Haghighi Moud, Pouya, et al.
(författare)
-
Equilibrium potassium coverage and its effect on a Ni tar reforming catalyst in alkali- and sulfur-laden biomass gasification gases
- 2016
-
Ingår i: Applied Catalysis B. - : Elsevier. - 0926-3373 .- 1873-3883. ; 190, s. 137-146
-
Tidskriftsartikel (refereegranskat)abstract
- Biomass conversion to syngas via gasification produces certain levels of gaseous by-products, such as tar and inorganic impurities (sulfur, potassium, phosphorus etc.). Nickel, a commonly used catalyst for hydrocarbqn steam reforming, suffers reduced reforming activity by small amounts of sulfur (S) or potassium (K), while resistance against deleterious carbon whisker formation increases. Nevertheless, the combined effect of biomass derived gas phase alkali at varying concentrations together with sulfur on tar reforming catalyst performance under realistic steady-state conditions is largely unknown. Prior to this study, a methodology to monitor these effects by precise K dosing as well as K co-dosing with S was successfully developed. A setup consisting of a 5 kW biomass fed atmospheric bubbling fluidized bed gasifier, a high temperature hot gas ceramic filter, and a catalytic reactor operating at 800 degrees C were used in the experiments. Within the current study, two test periods were conducted, including 30 h with 1 ppmv potassium chloride (KCl) dosing followed by 6 h without KCl dosing. Besides an essentially carbon-free operation, it can be concluded that although K, above a certain threshold surface concentration, is known to block active Ni sites and decrease activity in traditional steam reforming, it appears to lower the surface S coverage (theta(s)) at active Ni sites. This reduction in theta(s) increases the conversion of methane and aromatics in tar reforming application, which is most likely related to K-induced softening of the S-Ni bond. The K-modified support surface may also contribute to the significant increase in reactivity towards tar molecules. In addition, previously unknown relevant concentrations of K during realistic operating conditions on typical Ni-based reforming catalysts are extrapolated to lie below 100 mu K/m(2), a conclusion based on the 10-40 mu K/m(2) equilibrium coverages observed for the Ni/MgAl2O4 catalyst in the present study.
|
|
| 46. |
- Hagstrom, Emil, et al.
(författare)
-
IMPACT OF BODY WEIGHT AT AGE 20 AND WEIGHT GAIN DURING ADULTHOOD ON MIDLIFE CORONARY ARTERY CALCIUM IN 15,000 MEN AND WOMEN : AN INTERIM ANALYSIS OF THE SWEDISH CARDIOPULMONARY BIOIMAGE STUDY
- 2019
-
Ingår i: Journal of the American College of Cardiology. - : ELSEVIER SCIENCE INC. - 0735-1097 .- 1558-3597. ; 73:9, s. 1692-1692
-
Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- BackgroundElevated body weight in adolescence is strongly associated with early cardiovascular disease, but whether this association is traceable to weight in early adulthood, or to weight gain with subsequent high adult weight is not known. Using data from the Swedish CArdioPulmonary bioImage Study (SCAPIS), we investigated the association between weight at age 20, weight gain to midlife and coronary artery calcium score (CACS) at midlife.MethodsIn the first 15,810 participants in SCAPIS (mean age 58 years, 52% women), data on CACS at midlife, self-reported body weight at age 20 and weight at examination in SCAPIS were recorded.ResultsCACS in midlife was significantly higher with increasing weight at age 20 (p<0.001 for both sexes), and then increased with weight gain until midlife at all levels of body weight at age 20 after adjusting for age, height, smoking, alcohol intake, education level, exercise levels and LDL cholesterol. However, the association with weight gain was only significant in men (p = 0.047), not in women (p=0.474). No significant interaction was seen between weight at age 20 and midlife weight with CACS. The effect of weight at age 20 on CACS was significantly more marked in men than in women, as was the effect of weight gain (p<0.001 for both interactions).ConclusionWeight at age 20 and weight gain to midlife were both related to CACS, but much more markedly so in men than in women, indicating a generally larger effect of both early adult weight and further weight gain until midlife on CACS in men, compared to women.
|
|
| 47. |
|
|
| 48. |
- Hernandez, Asbel, et al.
(författare)
-
Gas-Phase Potassium Effects and the Role of the Support on the Tar Reforming of Biomass-Derived Producer Gas Over Sulfur-Equilibrated Ni/MgAl2O4
- 2020
-
Ingår i: Energy & Fuels. - : American Chemical Society. - 0887-0624 .- 1520-5029. ; 34:9, s. 11103-11111
-
Tidskriftsartikel (refereegranskat)abstract
- Biomass gasification is a sustainable way to convert biomass residues into valuable fuels and chemicals via syngas production. However, several gas impurities need to be removed before the final synthesis. Understanding of the interactions and effects of biomass-derived producer gas contaminants (S and K) on the performance of reforming catalysts is of great importance when it comes to process reliability and development. In the present study, the steam reforming activity at 800 °C of a sulfur-equilibrated nickel catalyst during controlled exposure to alkali species (∼2 ppmv K) and in its absence was investigated using real producer gas from a 5 kWth O2-blown fluidized-bed gasifier. Conversions of CH4, C2H4, and C10H8 were used to evaluate the performance of the Ni/MgAl2O4 catalyst and MgAl2O4 support. A significant and positive effect on the catalyst activity is observed with addition of gas-phase KCl. This is assigned primarily to the observed K-induced reduction in sulfur coverage (θS) on Ni—an effect which is reversible. The catalytic contribution of the K-modified pure MgAl2O4 support was found to be significant in the conversion of naphthalene but not for light hydrocarbons. The product and catalyst analyses provided evidence to elucidate the preferential adsorption site for S and K on the catalyst as well as the role of the support. Whereas S, as expected, was found to preferentially adsorb on the surface of Ni particles, forming S-Ni sites, K was found to preferentially adsorb on the MgAl2O4 support. A low but still significant K adsorption on S–Ni sites, or an effect on only the fraction of exposed Ni surface area near the metal–support interface, can, however, not be excluded. The result suggests that an improved Ni/MgAl2O4 catalyst activity and an essentially carbon-free operation can be achieved in the presence of controlled amount of gas-phase potassium and high sulfur coverages on Ni. Based on the results, a mechanism of the possible K–S interactions is proposed.
|
|
| 49. |
- Hernandez, Asbel, et al.
(författare)
-
Preferential adsorption of K species and the role of support during reforming of biomass derived producer gas over sulfur passivated Ni/MgAl2O4
- 2020
-
Ingår i: Energy & Fuels. - 0887-0624 .- 1520-5029. ; 34:9, s. 11103-11111
-
Tidskriftsartikel (refereegranskat)abstract
- Biomass gasification is a sustainable way to convert biomass residues into valuable fuels and chemicals via syngasproduction. However, several gas impurities need to be removed before thefinal synthesis. Understanding of the interactions andeffects of biomass-derived producer gas contaminants (S and K) on the performance of reforming catalysts is of great importancewhen it comes to process reliability and development. In the present study, the steam reforming activity at 800°C of a sulfur-equilibrated nickel catalyst during controlled exposure to alkali species (∼2 ppmv K) and in its absence was investigated using realproducer gas from a 5 kWthO2-blownfluidized-bed gasifier. Conversions of CH4,C2H4, and C10H8were used to evaluate theperformance of the Ni/MgAl2O4catalyst and MgAl2O4support. A significant and positive effect on the catalyst activity is observedwith addition of gas-phase KCl. This is assigned primarily to the observed K-induced reduction in sulfur coverage (θS)onNianeffect which is reversible. The catalytic contribution of the K-modified pure MgAl2O4support was found to be significant in theconversion of naphthalene but not for light hydrocarbons. The product and catalyst analyses provided evidence to elucidate thepreferential adsorption site for S and K on the catalyst as well as the role of the support. Whereas S, as expected, was found topreferentially adsorb on the surface of Ni particles, forming S-Ni sites, K was found to preferentially adsorb on the MgAl2O4support.A low but still significant K adsorption on S−Ni sites, or an effect on only the fraction of exposed Ni surface area near the metal−support interface, can, however, not be excluded. The result suggests that an improved Ni/MgAl2O4catalyst activity and anessentially carbon-free operation can be achieved in the presence of controlled amount of gas-phase potassium and high sulfurcoverages on Ni. Based on the results, a mechanism of the possible K−S interactions is proposed
|
|
| 50. |
- Hikmat, O., et al.
(författare)
-
Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases
- 2020
-
Ingår i: Journal of Inherited Metabolic Disease. - : Wiley. - 0141-8955 .- 1573-2665. ; 43:4, s. 726-736
-
Tidskriftsartikel (refereegranskat)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
|
|
