| 1. |
- van der Meer, PF, et al.
(author)
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Aggregates in platelet concentrates
- 2015
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In: Vox sanguinis. - : Wiley. - 1423-0410 .- 0042-9007. ; 108:1, s. 96-125
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Journal article (peer-reviewed)
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| 2. |
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| 3. |
- Jonsson, Frida, et al.
(author)
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Mutations in Collagen, Type XVII, Alpha 1 (COL17A1) Cause Epithelial Recurrent Erosion Dystrophy (ERED)
- 2015
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In: Human Mutation. - : John Wiley & Sons. - 1059-7794 .- 1098-1004. ; 36:4, s. 463-473
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Journal article (peer-reviewed)abstract
- Corneal dystrophies are a clinically and genetically heterogeneous group of inherited disorders that bilaterally affect corneal transparency. They are defined according to the corneal layer affected and by their genetic cause. In this study, we identified a dominantly inherited epithelial recurrent erosion dystrophy (ERED)-like disease that is common in northern Sweden. Whole-exome sequencing resulted in the identification of a novel mutation, c.2816C>T, p.T939I, in the COL17A1 gene, which encodes collagen type XVII alpha 1. The variant segregated with disease in a genealogically expanded pedigree dating back 200 years. We also investigated a unique COL17A1 synonymous variant, c.3156C>T, identified in a previously reported unrelated dominant ERED-like family linked to a locus on chromosome 10q23-q24 encompassing COL17A1. We show that this variant introduces a cryptic donor site resulting in aberrant pre-mRNA splicing and is highly likely to be pathogenic. Bi-allelic COL17A1 mutations have previously been associated with a recessive skin disorder, junctional epidermolysis bullosa, with recurrent corneal erosions being reported in some cases. Our findings implicate presumed gain-of-function COL17A1 mutations causing dominantly inherited ERED and improve understanding of the underlying pathology.
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| 4. |
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| 5. |
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| 7. |
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| 8. |
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| 9. |
- Andersson, Linnea, et al.
(author)
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Storage of Transfusion Platelet Concentrates is Associated with Complement Activation and Reduced Ability of Platelets to Respond to Protease-Activated Receptor-1 and Thromboxane A2 Receptor
- 2024
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In: International Journal of Molecular Sciences. - : MDPI. - 1661-6596 .- 1422-0067. ; 25:2
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Journal article (peer-reviewed)abstract
- Platelet activation and the complement system are mutually dependent. Here, we investigated the effects of storage time on complement activation and platelet function in routinely produced platelet concentrates. The platelet concentrates (n = 10) were stored at 22 degrees C for seven days and assessed daily for complement and platelet activation markers. Additionally, platelet function was analyzed in terms of their responsiveness to protease-activated receptor-1 (PAR-1) and thromboxane A2 receptor (TXA(2)R) activation and their capacity to adhere to collagen. Complement activation increased over the storage period for all analyzed markers, including the C1rs/C1-INH complex (fold change (FC) = 1.9; p < 0.001), MASP-1/C1-INH complex (FC = 2.0; p < 0.001), C4c (FC = 1.8, p < 0.001), C3bc (FC = 4.0; p < 0.01), and soluble C5b-9 (FC = 1.7, p < 0.001). Furthermore, the levels of soluble platelet activation markers increased in the concentrates over the seven-day period, including neutrophil-activating peptide-2 (FC = 2.5; p < 0.0001), transforming growth factor beta 1 (FC = 1.9; p < 0.001) and platelet factor 4 (FC = 2.1; p < 0.0001). The ability of platelets to respond to activation, as measured by surface expression of CD62P and CD63, decreased by 19% and 24% (p < 0.05) for PAR-1 and 69-72% (p < 0.05) for TXA(2)R activation, respectively, on Day 7 compared to Day 1. The extent of platelet binding to collagen was not significantly impaired during storage. In conclusion, we demonstrated that complement activation increased during the storage of platelets, and this correlated with increased platelet activation and a reduced ability of the platelets to respond to, primarily, TXA(2)R activation.
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| 10. |
- Getahun, H, et al.
(author)
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Management of latent Mycobacterium tuberculosis infection: WHO guidelines for low tuberculosis burden countries
- 2015
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In: The European respiratory journal. - : European Respiratory Society (ERS). - 1399-3003 .- 0903-1936. ; 46:6, s. 1563-1576
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Journal article (peer-reviewed)abstract
- Latent tuberculosis infection (LTBI) is characterised by the presence of immune responses to previously acquired Mycobacterium tuberculosis infection without clinical evidence of active tuberculosis (TB). Here we report evidence-based guidelines from the World Health Organization for a public health approach to the management of LTBI in high risk individuals in countries with high or middle upper income and TB incidence of <100 per 100 000 per year. The guidelines strongly recommend systematic testing and treatment of LTBI in people living with HIV, adult and child contacts of pulmonary TB cases, patients initiating anti-tumour necrosis factor treatment, patients receiving dialysis, patients preparing for organ or haematological transplantation, and patients with silicosis. In prisoners, healthcare workers, immigrants from high TB burden countries, homeless persons and illicit drug users, systematic testing and treatment of LTBI is conditionally recommended, according to TB epidemiology and resource availability. Either commercial interferon-gamma release assays or Mantoux tuberculin skin testing could be used to test for LTBI. Chest radiography should be performed before LTBI treatment to rule out active TB disease. Recommended treatment regimens for LTBI include: 6 or 9 month isoniazid; 12 week rifapentine plus isoniazid; 3–4 month isoniazid plus rifampicin; or 3–4 month rifampicin alone.
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| 11. |
- Hjelmfors, A-L, et al.
(author)
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Patient perspectives of prognosis communication
- 2017
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In: European Journal of Cardiovascular Nursing. - : Sage Publications. - 1474-5151 .- 1873-1953. ; 16, s. S65-S66
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Journal article (other academic/artistic)
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| 12. |
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| 13. |
- McLaren, Sandra, et al.
(author)
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Palaeogeographic, climatic and tectonic change in southeastern Australia: the Late Neogene evolution of the Murray Basin
- 2011
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In: Quaternary Science Reviews. - : Elsevier BV. - 0277-3791. ; 30:9-10, s. 1086-1111
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Journal article (peer-reviewed)abstract
- The Murray Basin is a low-lying but extensive intracratonic depocentre in southeastern Australia, preserving an extraordinary record of Late Neogene sedimentation. New stratigraphic and sedimento-logic data allow the long-term evolution of the basin to be re-evaluated and suggest a significant role for: (1) tectonism in controlling basin evolution, and (2) progressive and step-wise climatic change beginning in the early Pleistocene. Tectonic change is associated with regional uplift, occurring at approximately the same rate from the early Pliocene until the present day, and possibly associated with changing mantle circulation patterns or plate boundary processes. This uplift led to the defeat and re-routing of the Murray River, Australia's major continental drainage system. Key to our interpretation is recognition of timing relationships between four prominent palaeogeographic features - the Loxton-Parilla Sands strandplain, the Gambier coastal plain, palaeo megalake Bungunnia and the Kanawinka Escarpment. Geomorphic and stratigraphic evidence suggest that during the Early Pliocene the ancestral Murray River was located in western Victoria, flowing south along the Douglas Depression. Relatively small amounts of regional uplift (<200 m) defeated this drainage system, dramatically changing the palaeogeography of southeastern Australia and forming Plio-Pleistocene megalake Bungunnia. At its maximum extent Lake Bungunnia covered more than 50,000 km(2), making it one of the largest known palaeo- or modern-lakes in an intracontinental setting. Magnetostratigraphic constraints suggest lake formation c. 2.4 Ma. The formation of Lake Bungunnia influenced the Pliocene coastal dynamics, depriving the coastline of a sediment source and changing the coastal system from a prograding strandline system to an erosional one. Erosion during this period formed the Kanawinka Escarpment, a palaeo sea-cliff and one of the most prominent and laterally extensive geomorphic features in southeastern Australia. Marine sediments c. 800 ka to c. 1.16 Ma represent the time of re-establishment of depositional coastal dynamics and of a permanent outlet for the Murray River. This age range is consistent with our best estimate of the age of the youngest lake Bungunnia sediments and points towards an early Pleistocene age for the demise of the lake system. The youngest Lake Bungunnia sediment, present on a number of distinct terraces, suggests that progressive, step-wise climatic change played a role in the demise of the lake. However, in order for the ancestral Murray River system to have been able to breach the pre-existing tectonic dam, it is likely that tectonic change and/or temporarily enhanced discharge was also significant. This scenario indicates that the modern Murray River has only been in existence for at most 700 ka. (C) 2010 Elsevier Ltd. All rights reserved.
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| 14. |
- Nystedt, B., et al.
(author)
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Sarek : A portable workflow for whole-genome sequencing analysis of germline and somatic variants
- 2020
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In: F1000 Research. - : F1000 Research Ltd. - 2046-1402. ; 9
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Journal article (peer-reviewed)abstract
- Whole-genome sequencing (WGS) is a fundamental technology for research to advance precision medicine, but the limited availability of portable and user-friendly workflows for WGS analyses poses a major challenge for many research groups and hampers scientific progress. Here we present Sarek, an open-source workflow to detect germline variants and somatic mutations based on sequencing data from WGS, whole-exome sequencing (WES), or gene panels. Sarek features (i) easy installation, (ii) robust portability across different computer environments, (iii) comprehensive documentation, (iv) transparent and easy-to-read code, and (v) extensive quality metrics reporting. Sarek is implemented in the Nextflow workflow language and supports both Docker and Singularity containers as well as Conda environments, making it ideal for easy deployment on any POSIX-compatible computers and cloud compute environments. Sarek follows the GATK best-practice recommendations for read alignment and pre-processing, and includes a wide range of software for the identification and annotation of germline and somatic single-nucleotide variants, insertion and deletion variants, structural variants, tumour sample purity, and variations in ploidy and copy number. Sarek offers easy, efficient, and reproducible WGS analyses, and can readily be used both as a production workflow at sequencing facilities and as a powerful stand-alone tool for individual research groups. The Sarek source code, documentation and installation instructions are freely available at https://github.com/nf-core/sarek and at https://nf-co.re/sarek/.
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| 15. |
- Sandgren, J, et al.
(author)
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Whole Exome- and mRNA-Sequencing of an AT/RT Case Reveals Few Somatic Mutations and Several Deregulated Signalling Pathways in the Context of SMARCB1 Deficiency
- 2015
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In: BioMed research international. - : Hindawi Limited. - 2314-6141 .- 2314-6133. ; 2015, s. 862039-
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Journal article (peer-reviewed)abstract
- Background. AT/RTs are rare aggressive brain tumours, mainly affecting young children. Most cases present with genetic inactivation ofSMARCB1, a core member of the SWI/SNF chromatin-remodeling complex. We have performed whole exome- and mRNA-sequencing on an early onset AT/RT case for detection of genetic events potentially contributing to the disease.Results. Ade novogermline variant inSMARCB1, c.601C>T p.Arg201∗, in combination with somatic deletion of the healthy allele is likely the major tumour causing event. Only seven somatic small scale mutations were discovered (hittingSEPT03, H2BFM, ZIC4, HIST2H2AB, ZIK1, KRTAP6-3, andIFNA8). All were found with subclonal allele frequencies (range 5.7–17%) and none were expressed. However, besidesSMARCB1, candidate genes affected by predicted damaging germline variants that were expressed were detected (KDM5C, NUMA1, andPCM1). Analysis of differently expressed genes revealed many dysregulated pathways in the tumour, such as cell cycle, CXCR4 pathway, GPCR-signalling, and neuronal system.FGFR1, CXCR4, andMDKwere upregulated and may represent possible drug targets.Conclusion. The loss ofSMARCB1function leads to AT/RT development and deregulated genes and pathways. Additional predisposing events may however contribute. Studies utilizing NGS technologies in larger cohorts will probably identify recurrent genetic and epigenetic alterations and molecular subgroups with implications for clinical practice and development of targeted therapies.
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| 16. |
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| 17. |
- Strandberg, G., et al.
(author)
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Bespoke climate indicators for the Swedish energy sector − a stakeholder focused approach
- 2024
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In: Climate Services. - Göteborg : IVL Svenska Miljöinstitutet. - 2405-8807. ; 34, s. 100486-100486
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Journal article (peer-reviewed)abstract
- Climate change concerns the energy sector to a high degree because the sector is sensitive both to changing conditions for power and heat production, and to changing demand for electricity, heating and cooling. In this study potential consequences of climate change on different parts of the Swedish energy sector were assessed in a series of workshops, where climate and energy scientists, energy systems experts and analysts met with representativesof the energy sector to assess the vulnerability of the sector and consider what climate indicators could be used to assess impacts of relevance. The impact of climate change depends on the energy type. Hydropower, for which production is naturally linked to weather and climate, is significantly impacted by climate change. For other forms of production, such as nuclear power, other factors such as e.g. policy and technology development are more important. The series of workshops held in this study, where different aspects of climate change and consequences were discussed, proved very successful and has increased our understanding of climate impacts on the energy system.
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| 18. |
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| 19. |
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| 20. |
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| 21. |
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| 22. |
- Bruder, Carl E G, et al.
(author)
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Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles
- 2008
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In: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 82:3, s. 763-71
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Journal article (peer-reviewed)abstract
- The exploration of copy-number variation (CNV), notably of somatic cells, is an understudied aspect of genome biology. Any differences in the genetic makeup between twins derived from the same zygote represent an irrefutable example of somatic mosaicism. We studied 19 pairs of monozygotic twins with either concordant or discordant phenotype by using two platforms for genome-wide CNV analyses and showed that CNVs exist within pairs in both groups. These findings have an impact on our views of genotypic and phenotypic diversity in monozygotic twins and suggest that CNV analysis in phenotypically discordant monozygotic twins may provide a powerful tool for identifying disease-predisposition loci. Our results also imply that caution should be exercised when interpreting disease causality of de novo CNVs found in patients based on analysis of a single tissue in routine disease-related DNA diagnostics.
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| 23. |
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| 24. |
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| 25. |
- E, Sandgren, et al.
(author)
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Role of baseline 12‑lead ECG in predicting syncope caused by arrhythmia in patients investigated using an implantable loop recorder.
- 2019
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In: International journal of cardiology. Heart & vasculature. - : Elsevier BV. - 2352-9067. ; 24
-
Journal article (peer-reviewed)abstract
- To evaluate the role of baseline 12‑lead ECG in predicting the syncope mechanism during continuous monitoring using an implantable loop recorder (ILR).Consecutive patients with syncope implanted with an ILR were enrolled. Baseline 12‑lead ECG were related to ECG diagnosis derived from ILR tracings recorded at the time of syncope recurrence.In total 300 patients with a mean age of 66±16years were included, 49% (146/300) received an ILR-guided diagnosis during follow-up. Patients with abnormal baseline ECG more frequently received an ILR-guided diagnosis compared to those with normal baseline ECG 59% vs. 44%, p=0.018. For a diagnosis of arrhythmic syncope, the corresponding frequencies were 45% vs. 26%, p=0.001.Patients with bifascicular block significantly more common received an ILR-guided diagnosis 76% (25/33) compared to those with normal baseline ECG 44% (90/205), p≪0.001. In this subgroup, 96% (24/25) were diagnosed with arrhythmic syncope, 23 of which were due to bradyarrhythmia. Bifascicular block occurred almost exclusively among those ≥60years (31/33). After logistic regression the adjusted OR for arrhythmic syncope was significant for bifascicular block 5.5 (95%CI 2.3-13.2), p≪0.001. PPV for bifascicular block in predicting arrhythmic syncope was 73% and NPV 73%.A baseline 12‑lead ECG with bifascicular block was a strong predictor for syncope during follow-up, most often due to bradyarrhythmia caused by intermittent complete heart block. No other ECG findings were associated with the ILR outcome. We find it reasonable to consider permanent pacing instead of an ILR for patients with bifascicular block and unexplained syncope.
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| 26. |
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| 27. |
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| 28. |
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| 29. |
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| 30. |
- Hjelmfors, A-L, et al.
(author)
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Patient perspectives of prognosis communication
- 2017
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In: European Journal of Cardiovascular Nursing. - : Sage Publications. - 1474-5151 .- 1873-1953. ; 16:Suppl. 1, s. S65-S66
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Journal article (peer-reviewed)abstract
- Background: Several studies describe that patients with heart failure (HF) find it important to discuss prognosis and that they want to be informed about the expectations about the illness progression. However, little is known about their actual preferences for professional communication about prognosis.Purpose: to explore patient’s perspectives regarding communication with health care professionals about the HF prognosis.Methods: 15 patients participated in focus group interviews and a further 9 patients completed individual semi-structured interviews. The patients (75% men, 52-87 years of age) were in NYHA I-III, and were not diagnosed with any other major life threatening disease. Data was analysed using thematic analysis to identify and interpret patterns in the data.Results: One overarching theme was identified: “The tension between hoping for the best and preparing for the worst” with three sub-themes. Ignorance is bliss. Describes how patients preferred to avoid thinking about the HF prognosis because they did not want to lose hope for the future. They lived one day at the time, focusing on here and now, wanting to forget about the illness altogether. Patients also preferred to decide themselves whether they wanted to talk about the prognosis with professionals or not. Nothing but the truth. Describes how patients wanted to know the objective and absolute truth about their illness and its’ prognosis and were afraid to live under false expectations. The truth about their prognosis was that they might die because of their illness. Even though the truth may hurt, they believed that knowing the truth was necessary to live as good as possible. Good news only. Patients described that they knew that HF was a chronic illness but they were ambivalent in their approach towards discussing prognosis. They wanted to know the truth about their prognosis, but at the same time they did not want to know anything since they fear they might hear something they do not want to, as this may hurt. They only wanted to receive “good” and positive information from the professionals, since they perceived such information to be something that they can benefit from.Conclusions: This study shows that patients have different preferences for communication about prognosis and uses different approaches in order to cope living with a serious condition such as heart failure. Professionals need to respect the strategies a patient uses, and be ready to support the patient according to their needs, preferences and life situation.
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| 31. |
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| 32. |
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| 33. |
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| 34. |
- Köhn, Linda, 1979-, et al.
(author)
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Breakpoint characterization of a novel ~59 kb genomic deletion on 19q13.42 in autosomal dominant retinitis pigmentosa with reduced penetrance
- 2009
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In: European Journal of Human Genetics. - : Nature publishing group. - 1018-4813 .- 1476-5438. ; 17:5, s. 651-655
-
Journal article (peer-reviewed)abstract
- The aim of this study was to identify and characterize the underlying molecular mechanisms in autosomal-dominant retinitis pigmentosa (adRP) with incomplete penetrance in two Swedish families. An extended genealogical study and haplotype analysis indicated a common origin. Mutation identification was carried out by multiplex ligation-dependent probe amplification (MLPA) and sequencing. Clinical examinations of adRP families including electroretinography revealed obligate gene carriers without abnormalities, which indicated incomplete penetrance. Linkage analysis resulted in mapping of the disease locus to 19q13.42 (RP11). Sequence analyses did not reveal any mutations segregating with the disease in eight genes including PRPF31. Subsequent MLPA detected a large genomic deletion of 11 exons in the PRPF31 gene and, additionally, three genes upstream of the PRPF31. Breakpoints occurred in intron 11 of PRPF31 and in LOC441864, 'similar to osteoclast-associated receptor isoform 5.' An almost 59 kb deletion segregated with the disease in all affected individuals and was present in several asymptomatic family members but not in 20 simplex RP cases or 94 healthy controls tested by allele-specific PCR. A large genomic deletion resulting in almost entire loss of PRPF31 and three additional genes identified as the cause of adRP in two Swedish families provide an additional evidence that mechanism of the disease evolvement is haploinsufficiency. Identification of the deletion breakpoints allowed development of a simple tool for molecular testing of this genetic subtype of adRP.
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| 35. |
- Köhn, Linda, et al.
(author)
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Breakpoint characterization of a novel approximately 59 kb genomic deletion on 19q13.42 in autosomal-dominant retinitis pigmentosa with incomplete penetrance.
- 2009
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In: European Journal of Human Genetics. - : Springer Science and Business Media LLC. - 1018-4813 .- 1476-5438. ; 17:5, s. 651-655
-
Journal article (peer-reviewed)abstract
- The aim of this study was to identify and characterize the underlying molecular mechanisms in autosomal-dominant retinitis pigmentosa (adRP) with incomplete penetrance in two Swedish families. An extended genealogical study and haplotype analysis indicated a common origin. Mutation identification was carried out by multiplex ligation-dependent probe amplification (MLPA) and sequencing. Clinical examinations of adRP families including electroretinography revealed obligate gene carriers without abnormalities, which indicated incomplete penetrance. Linkage analysis resulted in mapping of the disease locus to 19q13.42 (RP11). Sequence analyses did not reveal any mutations segregating with the disease in eight genes including PRPF31. Subsequent MLPA detected a large genomic deletion of 11 exons in the PRPF31 gene and, additionally, three genes upstream of the PRPF31. Breakpoints occurred in intron 11 of PRPF31 and in LOC441864, 'similar to osteoclast-associated receptor isoform 5.' An almost 59 kb deletion segregated with the disease in all affected individuals and was present in several asymptomatic family members but not in 20 simplex RP cases or 94 healthy controls tested by allele-specific PCR. A large genomic deletion resulting in almost entire loss of PRPF31 and three additional genes identified as the cause of adRP in two Swedish families provide an additional evidence that mechanism of the disease evolvement is haploinsufficiency. Identification of the deletion breakpoints allowed development of a simple tool for molecular testing of this genetic subtype of adRP.
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| 36. |
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| 37. |
- Köhn, Linda, et al.
(author)
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PITPNM3 is an uncommon cause of cone and cone-rod dystrophies.
- 2010
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In: Ophthalmic Genetics. - : Informa Healthcare. - 1381-6810 .- 1744-5094. ; 31:3, s. 139-140
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Journal article (peer-reviewed)abstract
- The first mutation in PITPNM3, a human homologue of the Drosophila retinal degeneration (rdgB not not) gene was reported in two large Swedish families with autosomal dominant cone dystrophy. To establish the global impact that PITPNM3 has on retinal degenerations we screened 163 patients from Denmark, Germany, the UK, and USA. Four sequence variants, two missence mutations and two intronic changes were identified in the screen. Thus, mutations in PITPNM3 do not appear to be a major cause of cone or cone-rod dystrophy.
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| 38. |
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| 39. |
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| 40. |
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| 41. |
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| 42. |
- McNurlan, Margaret A., et al.
(author)
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Response of protein synthesis in human skeletal muscle to insulin : an investigation with L[2H5]phenylalanine
- 1994
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In: American Journal of Physiology. - : American Physiological Society. - 0002-9513 .- 2163-5773. ; 67:Part 1, s. E102-E108
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Journal article (peer-reviewed)abstract
- The role of insulin in the regulation of muscle protein synthesis in adult humans has been investigated with intravenous infusion of insulin at levels comparable with those observed after normal feeding. Glucose was also infused to maintain euglycemia. Muscle protein synthesis was measured in six healthy subjects before and during insulin and glucose infusion from the incorporation of L-[H-2(5)]phenylalanine into the protein of vastus lateralis sampled by percutaneous biopsy. L-[H-2(5)]phenylalanine was given as a single injection of a flooding amount (45 mg/kg). The relatively low levels of enrichment of phenylalanine in protein (0.005 atom%) were measured by modified gas chromatography-mass spectrometry and verified by comparison with incorporation of L-[2,6-H-3]phenylalanine. Similarity of enrichment in tissue-free and plasma pools (flooding) and linear incorporation over the period of measurement were also verified. The fractional rate of muscle protein synthesis in the group of postabsorptive subjects was 1.65 +/- 0.11% (SE)/day. The rate was unaltered by insulin and glucose infusion, 1.66 +/- 0.16%/day.
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| 43. |
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| 44. |
- Meyer-Rochow, Goswin Y., et al.
(author)
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MicroRNA profiling of benign and malignant pheochromocytomas identifies novel diagnostic and therapeutic targets
- 2010
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In: Endocrine-Related Cancer. - 1351-0088 .- 1479-6821. ; 17:3, s. 835-846
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Journal article (peer-reviewed)abstract
- MicroRNAs (miRNAs) are small RNAs (similar to 22 bp) that post-transcriptionally regulate protein expression and are found to be differentially expressed in a number of human cancers. There is increasing evidence to suggest that miRNAs could be useful in cancer diagnosis, prognosis, and therapy. We performed miRNA microarray expression profiling on a cohort of 12 benign and 12 malignant pheochromocytomas and identified a number of differentially expressed miRNAs. These results were validated in a separate cohort of ten benign and ten malignant samples using real-time quantitative RT-PCR; benign samples had a minimum follow-up of at least 2 years. It was found that IGF2 as well as its intronic miR-483-5p was over-expressed, while miR-15a and miR-16 were under-expressed in malignant tumours compared with benign tumours. These miRNAs were found to be diagnostic and prognostic markers for malignant pheochromocytoma. The functional role of miR-15a and miR-16 was investigated in vitro in the rat PC12 pheochromocytoma cell line, and these miRNAs were found to regulate cell proliferation via their effect on cyclin D1 and apoptosis. These data indicate that miRNAs play a pivotal role in the biology of malignant pheochromocytoma, and represent an important class of diagnostic and prognostic biomarkers and therapeutic targets warranting further investigation.
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| 45. |
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| 46. |
- Okmane, Laura, et al.
(author)
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Glucomannan and beta-glucan degradation by Mytilus edulis Cel45A : Crystal structure and activity comparison with GH45 subfamily A, B and C
- 2022
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In: Carbohydrate Polymers. - : Elsevier. - 0144-8617 .- 1879-1344. ; 277
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Journal article (peer-reviewed)abstract
- The enzymatic hydrolysis of barley beta-glucan, konjac glucomannan and carboxymethyl cellulose by a beta-1,4-D-endoglucanase MeCel45A from blue mussel, Mytilus edulis, which belongs to subfamily B of glycoside hydrolase family 45 (GH45), was compared with GH45 members of subfamilies A (Humicola insolens HiCel45A), B (Trichoderma reesei TrCel45A) and C (Phanerochaete chrysosporium PcCel45A). Furthermore, the crystal structure of MeCel45A is reported.Initial rates and hydrolysis yields were determined by reducing sugar assays and product formation was characterized using NMR spectroscopy. The subfamily B and C enzymes exhibited mannanase activity, whereas the subfamily A member was uniquely able to produce monomeric glucose. All enzymes were confirmed to be inverting glycoside hydrolases. MeCel45A appears to be cold adapted by evolution, as it maintained 70% activity on cellohexaose at 4 degrees C relative to 30 degrees C, compared to 35% for TrCel45A. Both enzymes produced cellobiose and cellotetraose from cellohexaose, but TrCel45A additionally produced cellotriose.
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| 47. |
- Rönnberg Wästljung, Ann-Christin, et al.
(author)
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Optimized utilization of Salix—Perspectives for the genetic improvement toward sustainable biofuel value chains
- 2022
-
In: Global Change Biology Bioenergy. - : John Wiley and Sons Inc. - 1757-1693 .- 1757-1707. ; 14:10, s. 1128-144
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Journal article (peer-reviewed)abstract
- Bioenergy will be one of the most important renewable energy sources in the conversion from fossil fuels to bio-based products. Short rotation coppice Salix could be a key player in this conversion since Salix has rapid growth, positive energy balance, easy to manage cultivation system with vegetative propagation of plant material and multiple harvests from the same plantation. The aim of the present paper is to provide an overview of the main challenges and key issues in willow genetic improvement toward sustainable biofuel value chains. Primarily based on results from the research project “Optimized Utilization of Salix” (OPTUS), the influence of Salix wood quality on the potential for biofuel use is discussed, followed by issues related to the conversion of Salix biomass into liquid and gaseous transportation fuels. Thereafter, the studies address genotypic influence on soil carbon sequestration in Salix plantations, as well as on soil carbon dynamics and climate change impacts. Finally, the opportunities for plant breeding are discussed using willow as a resource for sustainable biofuel production. Substantial phenotypic and genotypic variation was reported for different wood quality traits important in biological (i.e., enzymatic and anaerobic) and thermochemical conversion processes, which is a prerequisite for plant breeding. Furthermore, different Salix genotypes can affect soil carbon sequestration variably, and life cycle assessment illustrates that these differences can result in different climate mitigation potential depending on genotype. Thus, the potential of Salix plantations for sustainable biomass production and its conversion into biofuels is shown. Large genetic variation in various wood and biomass traits, important for different conversion processes and carbon sequestration, provides opportunities to enhance the sustainability of the production system via plant breeding. This includes new breeding targets in addition to traditional targets for high yield to improve biomass quality and carbon sequestration potential. © 2022 The Authors.
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| 48. |
- Sandgren, B., et al.
(author)
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Assessment of wear and periacetabular osteolysis using dual energy computed tomography on a pig cadaver to identify the lowest acceptable radiation dose
- 2016
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In: Bone & Joint Research. - : BRITISH EDITORIAL SOC BONE JOINT SURGERY. - 2046-3758. ; 5:7, s. 307-313
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Journal article (peer-reviewed)abstract
- Objectives Computed tomography (CT) plays an important role in evaluating wear and periacetabular osteolysis (PAO) in total hip replacements. One concern with CT is the high radiation exposure since standard pelvic CT provides approximately 3.5 millisieverts (mSv) of radiation exposure, whereas a planar radiographic examination with three projections totals approximately 0.5 mSv. The objective of this study was to evaluate the lowest acceptable radiation dose for dual-energy CT (DECT) images when measuring wear and periacetabular osteolysis in uncemented metal components. Materials and Methods A porcine pelvis with bilateral uncemented hip prostheses and with known linear wear and acetabular bone defects was examined in a third-generation multidetector DECT scanner. The examinations were performed with four different radiation levels both with and without iterative reconstruction techniques. From the high and low peak kilo voltage acquisitions, polychrmoatic images were created together with virtual monochromatic images of energies 100 kiloelectron volts (keV) and 150 keV. Results We could assess wear and PAO while substantially lowering the effective radiation dose to 0.7 mSv for a total pelvic view with an accuracy of around 0.5 mm for linear wear and 2 mm to 3 mm for PAO. Conclusion CT for detection of prosthetic wear and PAO could be used with clinically acceptable accuracy at a radiation exposure level equal to plain radiographic exposures.
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- Sandgren, B, et al.
(author)
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Risk factors for periacetabular osteolysis and wear in asymptomatic patients with uncemented total hip arthroplasties
- 2014
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In: TheScientificWorldJournal. - : Hindawi Limited. - 1537-744X. ; 2014, s. 905818-
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Journal article (peer-reviewed)abstract
- Osteolysis is a silent disease leading to aseptic loosening. This has not been studied in a cohort of asymptomatic patients. The aim of this study was to detect factors that might be associated with the development of periacetabular osteolysis and wear around an uncemented cup. We assessed 206 patients with an uncemented cup, measuring wear and periacetabular osteolysis using computed tomography with a median follow-up of 10 years after surgery (range 7–14 years). EQ5D, pain from the hip, and satisfaction were assessed. The association between periacetabular osteolysis and wear, age, gender, activity, BMI, cup type, cup age, positioning of the cup, and surface coating was investigated with a proportional odds model. Wear and male gender were associated with an increased risk for periacetabular osteolysis. There was no association with periacetabular osteolysis for time from operation, patient age, UCLA Activity Score, liner thickness at time of operation, BMI, cup positioning, and type of implant. A thin liner at time of operation is correlated to increased wear. Linear wear rate was 0.18 mm/year and 46 of 206 patients had large periacetabular osteolysis. Asymptomatic patients with these implants should be followed up on a regular basis with a sensitive method such as CT in order to detect complications early.
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