| 1. |
- Ameur, Adam, et al.
(författare)
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SweGen : a whole-genome data resource of genetic variability in a cross-section of the Swedish population
- 2017
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Ingår i: European Journal of Human Genetics. - : NATURE PUBLISHING GROUP. - 1018-4813 .- 1476-5438. ; 25:11, s. 1253-1260
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Tidskriftsartikel (refereegranskat)abstract
- Here we describe the SweGen data set, a comprehensive map of genetic variation in the Swedish population. These data represent a basic resource for clinical genetics laboratories as well as for sequencing-based association studies by providing information on genetic variant frequencies in a cohort that is well matched to national patient cohorts. To select samples for this study, we first examined the genetic structure of the Swedish population using high-density SNP-array data from a nation-wide cohort of over 10 000 Swedish-born individuals included in the Swedish Twin Registry. A total of 1000 individuals, reflecting a cross-section of the population and capturing the main genetic structure, were selected for whole-genome sequencing. Analysis pipelines were developed for automated alignment, variant calling and quality control of the sequencing data. This resulted in a genome-wide collection of aggregated variant frequencies in the Swedish population that we have made available to the scientific community through the website https://swefreq.nbis.se. A total of 29.2 million single-nucleotide variants and 3.8 million indels were detected in the 1000 samples, with 9.9 million of these variants not present in current databases. Each sample contributed with an average of 7199 individual-specific variants. In addition, an average of 8645 larger structural variants (SVs) were detected per individual, and we demonstrate that the population frequencies of these SVs can be used for efficient filtering analyses. Finally, our results show that the genetic diversity within Sweden is substantial compared with the diversity among continental European populations, underscoring the relevance of establishing a local reference data set.
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| 2. |
- Bargigia, Ilaria, et al.
(författare)
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Diffuse optical techniques applied to wood characterisation
- 2013
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Ingår i: Journal of Near Infrared Spectroscopy. - : SAGE Publications. - 0967-0335 .- 1751-6552. ; 21:4, s. 259-268
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Tidskriftsartikel (refereegranskat)abstract
- We propose an optical method for non-invasive characterisation of wood samples based on two optical techniques: time-resolved diffuse optical spectroscopy and gas in scattering media absorption spectroscopy. While the latter is sensitive to gases present inside wood pores, the former extracts information on the bulk material regarding light scattering and absorption. Measurements on spruce samples, cut along different wood fibre directions, are presented to show an example of the advantages of this combined approach: by applying these two non-destructive techniques together, in fact, relevant information on wood such as porosity, permeability and moisture content can be assessed. Furthermore, the chemical composition, internal structure and the anisotropy due to the wood fibres can be investigated.
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| 3. |
- Barup, Kerstin, et al.
(författare)
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Multi-disciplinary lidar applications
- 2010
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Ingår i: Laser Applications to Chemical, Security and Environmental Analysis, LACSEA 2010. - 2162-2701. - 9781557528803
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Konferensbidrag (refereegranskat)abstract
- Lidar is a powerful technique normally associated with atmospheric monitoring. However, lidar techniques, also of the laser-induced fluorescence and laser-induced breakdown spectroscopy varieties, provide many new possibilities in unconventional fields including cultural heritage and ecological applications.
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| 4. |
- Bátori, Veronika, 1980-, et al.
(författare)
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The effect of glycerol, sugar and maleic anhydride on pectin-cellulose biofilms prepared from orange waste
- 2019
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Ingår i: Polymers. - : MDPI AG. - 2073-4360.
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Tidskriftsartikel (refereegranskat)abstract
- This study was conducted to improve the properties of thin films prepared from orange waste by the solution casting method. The main focus was the elimination of holes in the film structure by establishing better cohesion between the major cellulosic and pectin fractions. For this, a previously developed method was improved first by the addition of sugar to promote pectin gelling, then by the addition of maleic anhydride. Principally, maleic anhydride was introduced to the films to induce cross-linking within the film structure. The effects of concentrations of sugar and glycerol as plasticizers and maleic anhydride as a cross-linking agent on the film characteristics were studied. Maleic anhydride improved the structure, resulting in a uniform film, and morphology studies showed better adhesion between components. However, it did not act as a cross-linking agent, but rather as a compatibilizer. The middle level (0.78%) of maleic anhydride content resulted in the highest tensile strength (26.65 ± 3.20 MPa) at low (7%) glycerol and high (14%) sugar levels and the highest elongation (28.48% ± 4.34%) at high sugar and glycerol levels. To achieve a uniform film surface with no holes present, only the lowest (0.39%) level of maleic anhydride was necessary.
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| 5. |
- Bergsten, Johannes, et al.
(författare)
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A 33-year follow-up after valvular surgery for carcinoid heart disease
- 2022
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Ingår i: European Heart Journal Cardiovascular Imaging. - : Oxford University Press (OUP). - 2047-2404 .- 2047-2412. ; 23:4, s. 524-531
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Tidskriftsartikel (refereegranskat)abstract
- AIMS: Valvular surgery has improved long-term prognosis in severe carcinoid heart disease (CaHD). Experience is limited and uncertainty remains about predictors for survival and strategy regarding single vs. double-valve surgery. The aim was to review survival and echocardiographic findings after valvular surgery for CaHD at our institution.METHODS AND RESULTS: Between 1986 and 2019, 60 consecutive patients, median age 64 years, underwent valve surgery for severe CaHD. Operations involved combined tricuspid valve replacement (TVR) and pulmonary valve replacement (PVR) in 42 cases, and TVR-only or TVR with pulmonary valvotomy (no PVR) in 18 patients. All implanted valves were bioprosthetic. Preoperative echocardiography, creatinine, NT-pro-brain natriuretic peptide (NT-pro-BNP), and 24-h urinary 5-hydroxyindoleacetic acid (5-HIAA) were obtained. 30-Day mortality was 12% (n=7), and 8% for the most recent decade 2010-2019. Median survival was 2.2 years and maximum survival 21 years. Patients undergoing combined TVR and PVR had significantly higher survival compared with operations without PVR (median 3.0 vs. 0.9 years, P = 0.02). Preoperative levels of NT-pro-BNP and 5-HIAA in the top quartile predicted poor survival. On preoperative echocardiograms, pulmonary regurgitation was severe in 51% and indeterminate in 17%. Postoperative echocardiography confirmed relatively good durability of bioprostheses, relative to the patients' limited oncological life expectancy.CONCLUSION: Valvular surgery in CaHD has an acceptable perioperative risk. Survival for combined TVR and PVR was significantly higher compared with operations without PVR. Bioprosthetic valve replacement appears to have adequate durability. Preoperative echocardiography may underestimate pulmonary pathology. Combined TVR and PVR should be considered in most patients.
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| 6. |
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| 7. |
- Bivik, Caroline, et al.
(författare)
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Novel Genes Involved in Controlling Specification of Drosophila FMRFamide Neuropeptide Cells
- 2015
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Ingår i: Genetics. - : Genetics Society of America. - 0016-6731 .- 1943-2631. ; 200:4, s. 1229-1244
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Tidskriftsartikel (refereegranskat)abstract
- The expression of neuropeptides is often extremely restricted in the nervous system, making them powerful markers for addressing cell specification . In the developing Drosophila ventral nerve cord, only six cells, the Ap4 neurons, of some 10,000 neurons, express the neuropeptide FMRFamide (FMRFa). Each Ap4/FMRFa neuron is the last-born cell generated by an identifiable and well-studied progenitor cell, neuroblast 5-6 (NB5-6T). The restricted expression of FMRFa and the wealth of information regarding its gene regulation and Ap4 neuron specification makes FMRFa a valuable readout for addressing many aspects of neural development, i.e., spatial and temporal patterning cues, cell cycle control, cell specification, axon transport, and retrograde signaling. To this end, we have conducted a forward genetic screen utilizing an Ap4-specific FMRFa-eGFP transgenic reporter as our readout. A total of 9781 EMS-mutated chromosomes were screened for perturbations in FMRFa-eGFP expression, and 611 mutants were identified. Seventy-nine of the strongest mutants were mapped down to the affected gene by deficiency mapping or whole-genome sequencing. We isolated novel alleles for previously known FMRFa regulators, confirming the validity of the screen. In addition, we identified novel essential genes, including several with previously undefined functions in neural development. Our identification of genes affecting most major steps required for successful terminal differentiation of Ap4 neurons provides a comprehensive view of the genetic flow controlling the generation of highly unique neuronal cell types in the developing nervous system.
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| 8. |
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| 9. |
- Brydegaard, Mikkel, et al.
(författare)
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Feasibility study: fluorescence lidar for remote bird classification
- 2010
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Ingår i: Applied Optics. - 2155-3165. ; 49:24, s. 4531-4544
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Tidskriftsartikel (refereegranskat)abstract
- We present a method for remote classification of birds based on eye-safe fluorescence lidar techniques. Mechanisms of quenching are discussed. Plumage reflectance is related to plumage fluorescence. Laboratory measurements on reflectance and fluorescence are presented, as well as test-range measurements. Also we present examples of birds' in-flight lidar returns. The methods are suitable for studies of night migrating species and high-altitude classification with implications for the detailed understanding of bird migration and global virus spread. (C) 2010 Optical Society of America
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| 10. |
- Dahlström, Örjan, et al.
(författare)
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Cognitive training and effects on speech-in noise performance in normal hearing and hearing impaired individuals
- 2015
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Ingår i: CHSCOM2015. - : Linköping University Electronic Press. ; , s. 127-127
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
- Cognitive training might have potential to improve speech understanding under adverse listening conditions. Here, we have examined the effects of a 5-week computer-based cognitive training program on speech-in-noise-performance, in normal hearing (NH) participants and in participants with mild-to-moderate sensorineural hearing loss (HI).Two groups, matched on gender and age (45-65 years), of 20 participants each (HI and NH respectively) are recruited. Participants perform four test-sessions; inclusion (t0), five weeks (t1), ten weeks (t2) and six months (t3). Training is performed either between t0 and t1, or between t1 and t2 (using a cross-over design), using the computer-based Cogmed training program, approximately 30-40 minutes per day, five days per week, during five weeks. At each session participants are tested in three different ways: (a) cognitive testing (KIPS, SICSPAN, TRT); (b) auditory performance (pure tone-audiometry (air- and bone-conduction) and speech audiometry (HINT, Swedish SPIN-test (SNR +4dB))); (c) cortical activation (MR sessions where participants performed a speech-in-noise task using Hagerman-sentences with steady-state speech-spectrum noise (SSN) and with two competing talkers). MR imaging is performed on a Philips Achieva 1.5 Tesla scanner using a sparse imaging technique in which stimuli are presented during the silent period between successive scans. Participants listen to auditory stimuli under eight different conditions: clear speech, SSN or two competing talkers (each at 90%, 50% and 0% intelligibility), and silent rest. Pre- and post-training, hearing disability is assessed by the Speech-Spatial-Qualities-Questionnaire.The study is on-going and behavioral results as well as results from fMRI will be presented.
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