| 1. |
- Blomström Lundqvist, Carina, et al.
(författare)
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The use of imaging for electrophysiological and devices procedures : a report from the first European Heart Rhythm Association Policy Conference, jointly organized with the European Association of Cardiovascular Imaging (EACVI), the Council of Cardiovascular Imaging and the European Society of Cardiac Radiology
- 2013
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Ingår i: Europace. - : Oxford University Press (OUP). - 1099-5129 .- 1532-2092. ; 15:7, s. 927-936
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Tidskriftsartikel (refereegranskat)abstract
- Implantations of cardiac devices therapies and ablation procedures frequently depend on accurate and reliable imaging modalities for pre-procedural assessments, intra-procedural guidance, detection of complications, and the follow-up of patients. An understanding of echocardiography, cardiovascular magnetic resonance imaging, nuclear cardiology, X-ray computed tomography, positron emission tomography, and vascular ultrasound is indispensable for cardiologists, electrophysiologists as well as radiologists, and it is currently recommended that physicians should be trained in several imaging modalities. There are, however, no current guidelines or recommendations by electrophysiologists, cardiac imaging specialists, and radiologists, on the appropriate use of cardiovascular imaging for selected patient indications, which needs to be addressed. A Policy Conference on the use of imaging in electrophysiology and device management, with representatives from different expert areas of radiology and electrophysiology and commercial developers of imaging and device technologies, was therefore jointly organized by European Heart Rhythm Association (EHRA), the Council of Cardiovascular Imaging and the European Society of Cardiac Radiology (ESCR). The objectives were to assess the state of the level of evidence and a first step towards a consensus document for currently employed imaging techniques to guide future clinical use, to elucidate the issue of reimbursement structures and health economy, and finally to define the need for appropriate educational programmes to ensure clinical competence for electrophysiologists, imaging specialists, and radiologists.
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| 2. |
- Kenna, Kevin P., et al.
(författare)
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NEK1 variants confer susceptibility to amyotrophic lateral sclerosis
- 2016
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 48:9, s. 1037-1042
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Tidskriftsartikel (refereegranskat)abstract
- To identify genetic factors contributing to amyotrophic lateral sclerosis (ALS), we conducted whole-exome analyses of 1,022 index familial ALS (FALS) cases and 7,315 controls. In a new screening strategy, we performed gene-burden analyses trained with established ALS genes and identified a significant association between loss-of-function (LOF) NEK1 variants and FALS risk. Independently, autozygosity mapping for an isolated community in the Netherlands identified a NEK1 p.Arg261 His variant as a candidate risk factor. Replication analyses of sporadic ALS (SALS) cases and independent control cohorts confirmed significant disease association for both p.Arg261 His (10,589 samples analyzed) and NEK1 LOF variants (3,362 samples analyzed). In total, we observed NEK1 risk variants in nearly 3% of ALS cases. NEK1 has been linked to several cellular functions, including cilia formation, DNA-damage response, microtubule stability, neuronal morphology and axonal polarity. Our results provide new and important insights into ALS etiopathogenesis and genetic etiology.
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| 3. |
- Voigt, Jens-Uwe, et al.
(författare)
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Apical transverse motion as surrogate parameter to determine regional left ventricular function inhomogeneities : a new, integrative approach to left ventricular asynchrony assessment
- 2009
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Ingår i: European Heart Journal. - : Oxford University Press (OUP). - 0195-668X .- 1522-9645. ; 30:8, s. 959-968
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Tidskriftsartikel (refereegranskat)abstract
- AimsLeft ventricular (LV) asynchrony assessment is mostly based on delays between regional myocardial velocity peaks. Regional function is barely considered. We propose apical transverse motion (ATM) as a new parameter integrating both temporal and functional information, which was tested in different conduction delays.Methods and resultsWe examined 67 patients, 11 patients with post-infarct ischaemic left bundle branch blocks (iLBBB) and 25 patients with non-ischaemic left bundle branch block (nLBBB), 12 patients with right bundle branch block (RBBB), and 19 normal healthy volunteers (NORM). Longitudinal colour tissue Doppler data were used to calculate the total transverse apex motion (ATM), the transverse motion in the four-chamber view plane alone (ATM4CV) as well as regional myocardial deformation and conventional LV asynchrony parameters. Median ATM was 1.8 mm in NORM, 1.5 mm in RBBB (P = 0.999), 2.4 mm in iLBBB (P = 0.183), and 4.3 mm in nLBBB (P < 0.001 vs. NORM and RSB). ATM4CV behaved similarly, showed a good correlation with regional deformation data, and distinguished well between NORM and LBBB (AUC = 0.87).ConclusionApical transverse motion is a new and simple parameter integrating information on both regional and temporal function inhomogeneities of the LV. It has a potential role in assessing LV asynchrony in the clinical context.
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| 4. |
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| 5. |
- Myhre, Peder L., et al.
(författare)
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Cardiac troponin T and NT-proBNP for detecting myocardial ischemia in suspected chronic coronary syndrome
- 2022
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Ingår i: International Journal of Cardiology. - : Elsevier Ireland Ltd. - 0167-5273 .- 1874-1754. ; 361, s. 14-17
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Tidskriftsartikel (refereegranskat)abstract
- Background: Elevated N-terminal pro-B-type natriuretic peptides (NT-proBNP) and cardiac troponin T (cTnT) are associated with poor outcome in patients with chronic coronary syndrome (CCS). The performance of these biomarkers in diagnosing ischemia, and their association with myocardial hypoperfusion and hypokinesis is unclear. Methods: Patients with suspected CCS (history of angina, estimated cardiovascular risk >15% or a positive stress test) were included in the prospective, multi-center DOPPLER-CIP study. Patients underwent Single Positron Emission Computed Tomography for assessment of ischemia and NT-proBNP and cTnT were measured in venous blood samples. Results: We included 430 patients (25% female) aged 64 +/- 8 years. Reversible hypoperfusion and hypokinesis were present in 139 (32%) and 89 (21%), respectively. Concentrations of NT-proBNP and cTnT correlated moderately (rho = 0.50, p < 0.001). NT-proBNP and cTnT concentrations (median [IQR]) were higher in patients with versus without reversible ischemia: 150 (73-294) versus 87 (44-192) ng/L and 10 (6-13) versus 7 (4-11) ng/L, respectively (p < 0.001 for both), and the associations persisted after adjusting for possible confounders. The C-statistics to discriminate ischemia ranged from 63%-73%, were comparable for cTnT and NT-proBNP, and higher for hypokinesis than hypoperfusion, and both were superior to exercise electrocardiography and stress echocardiography. Very low concentrations (<= 5 ng/L cTnT and <= 60 ng/L NT-proBNP) ruled out reversible hypokinesis with negative predictive value >90%. Conclusion: cTnT and NT-proBNP are associated with irreversible and reversible ischemia in patients with suspected CCS, particularly hypokinesis. The diagnostic performance was comparable between the biomarkers, and very low concentrations may reliably rule out ischemia.
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| 6. |
- Myhre, Peder L., et al.
(författare)
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Cardiac Troponin T Concentrations, Reversible Myocardial Ischemia, and Indices of Left Ventricular Remodeling in Patients with Suspected Stable Angina Pectoris: a DOPPLER-CIP Substudy
- 2018
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Ingår i: Clinical Chemistry. - : AMER ASSOC CLINICAL CHEMISTRY. - 0009-9147 .- 1530-8561. ; 64:9, s. 1370-1379
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Cardiac troponin T concentrations measured with high-sensitivity assays (hs-cTnT) provide important prognostic information for patients with stable coronary artery disease (CAD). However, whether hsc-TnT concentrations mainly reflect left ventricular (LV) remodeling or recurrent myocardial ischemia in this population is not known. METHODS: We measured hs-cTnT concentrations in 619 subjects with suspected stable CAD in a prospectively designed multicenter study. We identified associations with indices of LV remodeling, as assessed by cardiac MRI and echocardiography, and evidence of myocardial ischemia diagnosed by single positron emission computed tomography. RESULTS: Median hs-cTnT concentration was 7.8 ng/L (interquartile range, 4.8 -11.6 ng/L), and 111 patients (18%) had hs-cTnT concentrations above the upper reference limit (amp;gt; 14 ng/L). Patients with hs-cTnT amp;gt; 14 ng/L had increased LV mass (144 +/- 40 g vs 116 +/- 34 g; P amp;lt; 0.001) and volume (179 +/- 80 mL vs 158 +/- 44 mL; P = 0.006), lower LV ejection fraction (LVEF) (59 +/- 14 vs 62 +/- 11; P = 0.006) and global longitudinal strain (14.1 +/- 3.4% vs 16.9 +/- 3.2%; P amp;lt; 0.001), and more reversible perfusion defects (P amp;lt; 0.001) and reversible wall motion abnormalities (P = 0.008). Age (P = 0.009), estimated glomerular filtration rate (P = 0.01), LV mass (P = 0.003), LVEF (P = 0.03), and evidence of reversible myocardial ischemia (P = 0.004 for perfusion defects and P = 0.02 for LV wall motion) were all associated with increasing hs-cTnT concentrations in multivariate analysis. We found analogous results when using the revised US upper reference limit of 19 ng/L. CONCLUSIONS: hs-cTnT concentrations reflect both LV mass and reversible myocardial ischemia in patients with suspected stable CAD. (c) 2018 American Association for Clinical Chemistry
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| 7. |
- Nicolas, Aude, et al.
(författare)
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Genome-wide Analyses Identify KIF5A as a Novel ALS Gene
- 2018
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Ingår i: Neuron. - : Cell Press. - 0896-6273 .- 1097-4199. ; 97:6, s. 1268-1283.e6
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Tidskriftsartikel (refereegranskat)abstract
- To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases. Taken together, these results broaden the phenotype spectrum resulting from mutations in KIF5A and strengthen the role of cytoskeletal defects in the pathogenesis of ALS.
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| 8. |
- Oudbashi, Omid, 1978, et al.
(författare)
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An old problem in a new light: Elemental and lead isotopic analysis of Luristan Bronzes
- 2021
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Ingår i: Journal of Archaeological Science: Reports. - : Elsevier BV. - 2352-409X. ; 39
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Tidskriftsartikel (refereegranskat)abstract
- The emergence and provenance of the Luristan Bronzes has been a subject of interest for many decades. This paper presents the results of elemental and lead isotopic analysis of a series of Luristan Bronzes discovered from recent excavations in the Sangtarashan sanctuary, as well as an extensive comparative study on technology and provenance of the Luristan Bronzes. This study was performed in order to better understand tin bronze production technology in the Luristan region during the Iron Age. It focuses on the artefacts themselves, as no mining or production evidence has been discovered in Luristan so far. For this purpose, 46 samples from different pieces of thin sheet vessels from Sangtarashan were analysed by inductively coupled plasma-optical emission spectroscopy (ICP-OES) for their elemental composition and by multi-collector inductively coupled plasma-mass spectroscopy (MC-ICP-MS) for their lead isotopic composition. The results of elemental analysis showed that tin bronze with variable tin content was used to produce these artefacts. The comparative study of the alloy composition also shows that tin bronze may have been the main material to produce ritual artefacts during the Iron Age of western Iran. Furthermore, the lead isotope ratios of the Sangtarashan artefacts partially overlap with those of different copper ore deposits on the Iranian Plateau, including deposits close to Luristan (such as Deh Hosein) and ore deposits further away, in central and eastern Iran. In fact, the results revealed that it is not possible at this stage in the research to identify one specific ore deposit or region as the source of copper for tin bronze metallurgy during the Iron Age of Luristan. Thus, the research suggests that ancient metalworkers apparently used different copper sources to produce the bronze artefacts specific to the region of Luristan in western Iran.
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| 9. |
- Rademakers, Frank, et al.
(författare)
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Determining optimal noninvasive parameters for the prediction of left ventricular remodeling in chronic ischemic patients
- 2013
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Ingår i: Scandinavian Cardiovascular Journal. - : Informa Healthcare. - 1401-7431 .- 1651-2006. ; 47:6, s. 329-334
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Tidskriftsartikel (refereegranskat)abstract
- Objectives. DOPPLER-CIP aims to determine the optimal noninvasive parameters (myocardial function, perfusion, ventricular blood flow, cell integrity) and methodology (ergometry, echocardiography, scintigraphy, MRI) in a given ischemic substrate that best predicts the impact of an intervention (or the lack thereof) on adverse morphological ventricular remodeling and functional recovery. Moreover, the relative predictive value of each of these parameters, in respect to the cost of extracting this information in order to enable optimization of cost-effectiveness for improved health care, will be determined by this project. Design. DOPPLER-CIP is a multi-center registry study. All patients with ischemic heart disease included in this study undergo at least two noninvasive stress imaging examinations at baseline. The presence/or absence of left ventricular (LV) remodeling will be assessed after a follow-up of 2 years, during which all cardiac events will be registered. Results. 676 patients were included. Currently, baseline data analysis is almost finished and the follow-up is ongoing. Conclusions. After completion, DOPPLER-CIP will provide evidence-based guidelines toward the most effective use of cardiac imaging in the chronically ischemic heart disease patient. The study will generate information, knowledge, and insight into the new imaging methodologies and into the pathophysiology of chronic ischemic heart disease.
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