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Sökning: WFRF:(Berlin G)

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1.
  • Abdalla, E., et al. (författare)
  • Cosmology intertwined : A review of the particle physics, astrophysics, and cosmology associated with the cosmological tensions and anomalies
  • 2022
  • Ingår i: Journal of High Energy Astrophysics. - : Elsevier BV. - 2214-4048 .- 2214-4056. ; 34, s. 49-211
  • Tidskriftsartikel (refereegranskat)abstract
    • The standard Λ Cold Dark Matter (ΛCDM) cosmological model provides a good description of a wide range of astrophysical and cosmological data. However, there are a few big open questions that make the standard model look like an approximation to a more realistic scenario yet to be found. In this paper, we list a few important goals that need to be addressed in the next decade, taking into account the current discordances between the different cosmological probes, such as the disagreement in the value of the Hubble constant H0, the σ8–S8 tension, and other less statistically significant anomalies. While these discordances can still be in part the result of systematic errors, their persistence after several years of accurate analysis strongly hints at cracks in the standard cosmological scenario and the necessity for new physics or generalisations beyond the standard model. In this paper, we focus on the 5.0σ tension between the Planck CMB estimate of the Hubble constant H0 and the SH0ES collaboration measurements. After showing the H0 evaluations made from different teams using different methods and geometric calibrations, we list a few interesting new physics models that could alleviate this tension and discuss how the next decade's experiments will be crucial. Moreover, we focus on the tension of the Planck CMB data with weak lensing measurements and redshift surveys, about the value of the matter energy density Ωm, and the amplitude or rate of the growth of structure (σ8,fσ8). We list a few interesting models proposed for alleviating this tension, and we discuss the importance of trying to fit a full array of data with a single model and not just one parameter at a time. Additionally, we present a wide range of other less discussed anomalies at a statistical significance level lower than the H0–S8 tensions which may also constitute hints towards new physics, and we discuss possible generic theoretical approaches that can collectively explain the non-standard nature of these signals. Finally, we give an overview of upgraded experiments and next-generation space missions and facilities on Earth that will be of crucial importance to address all these open questions. 
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2.
  • Clark, Andrew G., et al. (författare)
  • Evolution of genes and genomes on the Drosophila phylogeny
  • 2007
  • Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 450:7167, s. 203-218
  • Tidskriftsartikel (refereegranskat)abstract
    • Comparative analysis of multiple genomes in a phylogenetic framework dramatically improves the precision and sensitivity of evolutionary inference, producing more robust results than single-genome analyses can provide. The genomes of 12 Drosophila species, ten of which are presented here for the first time (sechellia, simulans, yakuba, erecta, ananassae, persimilis, willistoni, mojavensis, virilis and grimshawi), illustrate how rates and patterns of sequence divergence across taxa can illuminate evolutionary processes on a genomic scale. These genome sequences augment the formidable genetic tools that have made Drosophila melanogaster a pre-eminent model for animal genetics, and will further catalyse fundamental research on mechanisms of development, cell biology, genetics, disease, neurobiology, behaviour, physiology and evolution. Despite remarkable similarities among these Drosophila species, we identified many putatively non-neutral changes in protein-coding genes, non-coding RNA genes, and cis-regulatory regions. These may prove to underlie differences in the ecology and behaviour of these diverse species.
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  • Hillier, Ladeana W, et al. (författare)
  • Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution
  • 2004
  • Ingår i: Nature. - 0028-0836 .- 1476-4687. ; 432:7018, s. 695-716
  • Tidskriftsartikel (refereegranskat)abstract
    • We present here a draft genome sequence of the red jungle fowl, Gallus gallus. Because the chicken is a modern descendant of the dinosaurs and the first non-mammalian amniote to have its genome sequenced, the draft sequence of its genome--composed of approximately one billion base pairs of sequence and an estimated 20,000-23,000 genes--provides a new perspective on vertebrate genome evolution, while also improving the annotation of mammalian genomes. For example, the evolutionary distance between chicken and human provides high specificity in detecting functional elements, both non-coding and coding. Notably, many conserved non-coding sequences are far from genes and cannot be assigned to defined functional classes. In coding regions the evolutionary dynamics of protein domains and orthologous groups illustrate processes that distinguish the lineages leading to birds and mammals. The distinctive properties of avian microchromosomes, together with the inferred patterns of conserved synteny, provide additional insights into vertebrate chromosome architecture.
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4.
  • Mörtzell Henriksson, Monica, et al. (författare)
  • Adverse events in apheresis : an update of the WAA registry data
  • 2016
  • Ingår i: Transfusion and apheresis science. - : Elsevier. - 1473-0502 .- 1878-1683. ; 54:1, s. 2-15
  • Forskningsöversikt (refereegranskat)abstract
    • Apheresis with different procedures and devices are used for a variety of indications that may have different adverse events (AEs). The aim of this study was to clarify the extent and possible reasons of various side effects based on data from a multinational registry. The WAA-apheresis registry data focus on adverse events in a total of 50846 procedures in 7142 patients (42% women). AEs were graded as mild, moderate (need for medication), severe (interruption due to the AE) or death (due to AE). More AEs occurred during the first procedures versus subsequent (8.4 and 5.5%, respectively). AEs were mild in 2.4% (due to access 54%, device 7%, hypotension 15%, tingling 8%), moderate in 3% (tingling 58%, urticaria 15%, hypotension 10%, nausea 3%), and severe in 0.4% of procedures (syncope/hypotension 32%, urticaria 17%, chills/fever 8%, arrhythmia/asystole 4.5%, nausea/vomiting 4%). Hypotension was most common if albumin was used as the replacement fluid, and urticaria when plasma was used. Arrhythmia occurred to similar extents when using plasma or albumin as replacement. In 64% of procedures with bronchospasm, plasma was part of the replacement fluid used. Severe AEs are rare. Although most reactions are mild and moderate, several side effects may be critical for the patient. We present side effects in relation to the procedures and suggest that safety is increased by regular vital sign measurements, cardiac monitoring and by having emergency equipment nearby.
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  • Mortzell, Monica, et al. (författare)
  • Thrombotic microangiopathy
  • 2011
  • Ingår i: Transfusion and apheresis science. - Oxford : Elsevier. - 1473-0502 .- 1878-1683. ; 45:2, s. 119-123
  • Tidskriftsartikel (refereegranskat)abstract
    • Thrombotic microangiopathy (TMA) is a histopathological feature of various diseases including thrombotic thrombocytopenic purpura (UP) and hemolytic uremic syndrome (HUS). There are many secondary causes of TMA, many of them could mimic TTP or HUS. This article presents a short overview on TMA. In conclusion TMA is the result of various etiology reasons and pathologic reactions with various clinical entities. It is important to focus on a thorough history including family history when deciding on a diagnosis. Analysis of ADAMTS 13 and ADAMTS 13-antibodies may help to decide continued therapy.
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  • Mörtzell, Monica, et al. (författare)
  • Analyses of data of patients with Thrombotic Microangiopathy in the WAA registry
  • 2011
  • Ingår i: Transfusion and apheresis science. - : Elsevier. - 1473-0502 .- 1878-1683. ; 45:2, s. 125-131
  • Tidskriftsartikel (refereegranskat)abstract
    • Thrombotic Microangiopathy (TMA) is a histopathological feature of various diseases including thrombotic thrombocytopenic purpura and hemolytic uremic syndrome. less thanbrgreater than less thanbrgreater thanThe aim of this study was to investigate the outcome and prognostic variables of TMA-patients. less thanbrgreater than less thanbrgreater thanMaterials and methods: Data were consecutively retrieved from the WAA-apheresis registry (www.waa-registry.org) during 2003-2009. Included were all 120 patients (1237 procedures) who suffered from various forms of TMA, as registered by the ICD-10 code M31.1. Besides registry data, more extensive information was retrieved from the latest 64 patients. Adverse events of the TMA patients were compared to those of the other patients in the registry. less thanbrgreater than less thanbrgreater thanResults: The mean age was 46 years (range 11-85 years, 57% women). In 72% therapeutic apheresis was due to an acute indication while a long-term indication was present in 28%. Plasma exchange was performed by centrifugation and filtration technique (95% and 4%, respectively), and immunoadsorption in 1% of the patients. Only fresh frozen plasma was used as replacement fluid in 69% of procedures. Adverse events were more frequent than in the general apheresis population (10% versus 5%, RR 1.9, CI 1.6-2.3). No death occurred due to apheresis treatment. Three percent of the procedures were interrupted. Bronchospasm and/or anaphylactic shock were present in two patients and one patient suffered from TRALI. At admission 26% were bedridden and needed to be fed. The risk of dying during the treatment period was significantly higher if the patient also suffered from a compromising disease, such as cancer. There was an inverse correlation between the ADAMTS13 level and the antibody titer (r = -0.47, p = 0.034). less thanbrgreater than less thanbrgreater thanConclusions: Patients with TMA have an increased risk for moderate and severe AE compared to the general apheresis population. Many patients were severely ill at admission. The prognosis is worse if the patient also has a severe chronic disease. Even slightly increased ADAMTS13-antibody titers seem to have a negative impact on the ADAMTS13 levels. (C) 2011 Elsevier Ltd. All rights reserved.
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  • Stegmayr, Bernd, et al. (författare)
  • Distribution of indications and procedures within the framework of centers participating in the WAA apheresis registry
  • 2017
  • Ingår i: Transfusion and apheresis science. - : Elsevier BV. - 1473-0502 .- 1878-1683. ; 56:1, s. 71-74
  • Tidskriftsartikel (refereegranskat)abstract
    • The WAA apheresis registry was established in 2003 and an increasing number of centers have since then included their experience and data of their procedures. The registry now contains data of more than 74,000 apheresis procedures in more than 10,000 patients. This report shows that the indications for apheresis procedures are changing towards more oncological diagnoses and stem cell collections from patients and donors and less therapeutic apheresis procedures. In centers that continue to register, the total extent of apheresis procedures and patients treated have expanded during the latest years.
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  • DiSantostefano, Rachael L., et al. (författare)
  • Research Priorities to Increase Confidence in and Acceptance of Health Preference Research: What Questions Should be Prioritized Now?
  • 2023
  • Ingår i: Patient. - 1178-1653 .- 1178-1661. ; 17:2, s. 179-190
  • Tidskriftsartikel (refereegranskat)abstract
    • AbstractBackground and ObjectiveThere has been an increase in the study and use of stated-preference methods to inform medicine development decisions. The objective of this study was to identify prioritized topics and questions relating to health preferences based on the perspective of members of the preference research community.MethodsPreference research stakeholders from industry, academia, consultancy, health technology assessment/regulatory, and patient organizations were recruited using professional networks and preference-targeted e-mail listservs and surveyed about their perspectives on 19 topics and questions for future studies that would increase acceptance of preference methods and their results by decision makers. The online survey consisted of an initial importance prioritization task, a best-worst scaling case 1 instrument, and open-ended questions. Rating counts were used for analysis. The best-worst scaling used a balanced incomplete block design.ResultsOne hundred and one participants responded to the survey invitation with 66 completing the best-worst scaling. The most important research topics related to the synthesis of preferences across studies, transferability across populations or related diseases, and method topics including comparison of methods and non-discrete choice experiment methods. Prioritization differences were found between respondents whose primary affiliation was academia versus other stakeholders. Academic researchers prioritized methodological/less studied topics; other stakeholders prioritized applied research topics relating to consistency of practice.ConclusionsAs the field of health preference research grows, there is a need to revisit and communicate previous work on preference selection and study design to ensure that new stakeholders are aware of this work and to update these works where necessary. These findings might encourage discussion and alignment among different stakeholders who might hold different research priorities. Research on the application of previous preference research to new contexts will also help increase the acceptance of health preference information by decision makers.
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  • Höppner, Marc P., et al. (författare)
  • An Improved Canine Genome and a Comprehensive Catalogue of Coding Genes and Non-Coding Transcripts
  • 2014
  • Ingår i: PLOS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 9:3, s. e91172-
  • Tidskriftsartikel (refereegranskat)abstract
    • The domestic dog, Canis familiaris, is a well-established model system for mapping trait and disease loci. While the original draft sequence was of good quality, gaps were abundant particularly in promoter regions of the genome, negatively impacting the annotation and study of candidate genes. Here, we present an improved genome build, canFam3.1, which includes 85 MB of novel sequence and now covers 99.8% of the euchromatic portion of the genome. We also present multiple RNA-Sequencing data sets from 10 different canine tissues to catalog similar to 175,000 expressed loci. While about 90% of the coding genes previously annotated by EnsEMBL have measurable expression in at least one sample, the number of transcript isoforms detected by our data expands the EnsEMBL annotations by a factor of four. Syntenic comparison with the human genome revealed an additional similar to 3,000 loci that are characterized as protein coding in human and were also expressed in the dog, suggesting that those were previously not annotated in the EnsEMBL canine gene set. In addition to,20,700 high-confidence protein coding loci, we found,4,600 antisense transcripts overlapping exons of protein coding genes, similar to 7,200 intergenic multi-exon transcripts without coding potential, likely candidates for long intergenic non-coding RNAs (lincRNAs) and,11,000 transcripts were reported by two different library construction methods but did not fit any of the above categories. Of the lincRNAs, about 6,000 have no annotated orthologs in human or mouse. Functional analysis of two novel transcripts with shRNA in a mouse kidney cell line altered cell morphology and motility. All in all, we provide a much-improved annotation of the canine genome and suggest regulatory functions for several of the novel non-coding transcripts.
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  • Leander, Karen, et al. (författare)
  • Våld
  • 2009
  • Ingår i: Fokhälsorapporten 2009. - Stockholm : Socialstyrelsen. - 9789197806589 ; , s. 339-367
  • Bokkapitel (refereegranskat)
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17.
  • Peng, Xinxia, et al. (författare)
  • The draft genome sequence of the ferret (Mustela putorius furo) facilitates study of human respiratory disease
  • 2014
  • Ingår i: Nature Biotechnology. - : Springer Science and Business Media LLC. - 1087-0156 .- 1546-1696. ; 32:12, s. 1250-U114
  • Tidskriftsartikel (refereegranskat)abstract
    • The domestic ferret (Mustela putorius furo) is an important animal model for multiple human respiratory diseases. It is considered the 'gold standard' for modeling human influenza virus infection and transmission(1-)4. Here we describe the 2.41 Gb draft genome assembly of the domestic ferret, constituting 2.28 Gb of sequence plus gaps. We annotated 19,910 protein-coding genes on this assembly using RNA-seq data from 21 ferret tissues. We characterized the ferret host response to two influenza virus infections by RNA-seq analysis of 42 ferret samples from influenza time-course data and showed distinct signatures in ferret trachea and lung tissues specific to 1918 or 2009 human pandemic influenza virus infections. Using microarray data from 16 ferret samples reflecting cystic fibrosis disease progression, we showed that transcriptional changes in the CFTR-knockout ferret lung reflect pathways of early disease that cannot be readily studied in human infants with cystic fibrosis disease.
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18.
  • Stegmayr, Bernd G, et al. (författare)
  • Panorama of adverse events during cytapheresis
  • 2013
  • Ingår i: Transfusion and apheresis science. - : Pergamon Press. - 1473-0502 .- 1878-1683. ; 48:2, s. 155-156
  • Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
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  • Stegmayr, B. G., et al. (författare)
  • Plasma exchange or immunoadsorption in patients with rapidly progressive crescentic glomerulonephritis : A Swedish multi-center study
  • 1999
  • Ingår i: International Journal of Artificial Organs. - : SAGE Publications. - 0391-3988 .- 1724-6040. ; 22:2, s. 81-87
  • Tidskriftsartikel (refereegranskat)abstract
    • A therapeutic removal of antibodies may be achieved by immunoadsorption (IA) or by plasma exchange (PE). The aim of this prospective randomised study was to compare the efficacy of these different techniques with regard to treatment of patients with rapidly progressive glomerulonephritis (RPG) having at least 50% crescents. Forty-four patients with a RPG were included for treatment either by IA or PE (with albumin as substitution for removed plasma). All patients were additionally treated with immunosuppression. A median of 6 sessions of PEs were performed in 23 patients compared with 6 IAs in 21 patients. Goodpasture's syndrome (GP) was present in 6 patients (PE 3, IA 3). All of them started and ended in dialysis, two died. Among the remaining 38 patients (26 men, 12 women) 87% had antibodies to ANCA. Creatinine clearance for PE versus IA were at a median at start 17.1 and 19.8 ml/min, and at 6 months 49 and 49 ml/min, respectively. At 6 months 7 of 10 patients did not need dialysis (remaining: IA 0/5 and PE 2/5, n.s.). The extent of improvement did not differ between the groups. Three patients died during the observation period of 6 months (IA 2; PE 1, on HD). Although no difference was found between the IA or the PE group this study shows that the protocol used was associated with an improved renal function in most patients (except for Goodpasture's syndrome) whereas 70% of them could leave the dialysis program.
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  • Stegmayr, Bernd, et al. (författare)
  • World apheresis registry 2003-2007 data
  • 2008
  • Ingår i: Transfusion and apheresis science. - Oxford : Elsevier BV. - 1473-0502 .- 1878-1683. ; 39:3, s. 247-254
  • Tidskriftsartikel (refereegranskat)abstract
    • Objectives: Seventy-five centers from many countries have applied for a login code to the WAA apheresis registry. Fifteen centers from 7 countries have been actively entering data at the internet site from 2003 until 2007. We report on data from the registry so far. Methods: This is a web-based registry. A link is available from the WAA homepage (www.worldapheresis.org). So far data from 2013 patients (12,448 procedures) have been included. A median of 6 treatments have been performed (range 1140). Mean age 51 years (range 1-94 years; 45% women). Seven percent of the patients were <= 21 years and 4% were <= 16 years. Results: The purpose of the apheresis procedure was therapeutic in 67% and retrieval of blood components in 33% Main indications: neurological and hematological diseases, lipid apheresis and stemcell collection (autologous, and some allogeneic). Blood access: peripheral vessels (71%), central dialysis catheter through jugular (6.5%) or subclavian veins (6.7%), femoral vein (8%) and AV fistula (4%). ACD was used for anticoagulation in 73% of the procedures. Albumin was mainly used as replacement fluid. Adverse events (AE) were registered in 5.7% of the procedures. AE was graded as mild (2.5%), moderate (2.7%) or severe (0.5%). No death occurred due to treatment. The procedures were interrupted in 2.6%. Most frequent AEs were blood access problems (29%), tingling around the mouth (20%), hypotension (18%), and urticaria (9%). There were significant differences between the centers regarding mild and moderate AEs. Data indicate that centers using continuous infusion of calcium had fewer AEs. Conclusion: There was a limited number of severe AEs. Centers use various standard procedures for apheresis. By learning from the experience of others the treatment quality will improve further. In the near future, an update of the registry will enable more extensive evaluation of the data.
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21.
  • ter Veer, Emil, et al. (författare)
  • Consensus statement on mandatory measurements in pancreatic cancer trials (COMM-PACT) for systemic treatment of unresectable disease
  • 2018
  • Ingår i: The Lancet Oncology. - 1470-2045 .- 1474-5488. ; 19:3, s. E151-E160
  • Forskningsöversikt (refereegranskat)abstract
    • Variations in the reporting of potentially confounding variables in studies investigating systemic treatments for unresectable pancreatic cancer pose challenges in drawing accurate comparisons between findings. In this Review, we establish the first international consensus on mandatory baseline and prognostic characteristics in future trials for the treatment of unresectable pancreatic cancer. We did a systematic literature search to find phase 3 trials investigating first-line systemic treatment for locally advanced or metastatic pancreatic cancer to identify baseline characteristics and prognostic variables. We created a structured overview showing the reporting frequencies of baseline characteristics and the prognostic relevance of identified variables. We used a modified Delphi panel of two rounds involving an international panel of 23 leading medical oncologists in the field of pancreatic cancer to develop a consensus on the various variables identified. In total, 39 randomised controlled trials that had data on 15 863 patients were included, of which 32 baseline characteristics and 26 prognostic characteristics were identified. After two consensus rounds, 23 baseline characteristics and 12 prognostic characteristics were designated as mandatory for future pancreatic cancer trials. The COnsensus statement on Mandatory Measurements in unresectable PAncreatic Cancer Trials (COMM-PACT) identifies a mandatory set of baseline and prognostic characteristics to allow adequate comparison of outcomes between pancreatic cancer studies.
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  • Bauer, Hjärtcentrum, et al. (författare)
  • Monitoring referral and treatment in soft tissue sarcoma : Study based on 1,851 patients from the Scandinavian Sarcoma Group Register
  • 2001
  • Ingår i: Acta Orthopaedica Scandinavica. - : Medical Journals Sweden AB. - 0001-6470. ; 72:2, s. 150-159
  • Tidskriftsartikel (refereegranskat)abstract
    • This report is based on 1.851 adult patients with soft tissue sarcoma (STS) of the extremities or trunk wall diagnosed between 1986 and 1997 and reported from all tertiary referral centers in Norway and Sweden. The median age at diagnosis was 65 years and the male-to-female ratio was 1.1:1. One third of the tumors were subcutaneous, one third deep, intramuscular and one third deep, extramuscular. The median size was 7 (1-35) cm and 75% were high grade (III-IV). Metastases at presentation were diagnosed in 8% of the patients. Two thirds of STS patients were referred before surgery and the referral practices have improved during the study. The preoperative morphologic diagnosis was made with fine-needle aspiration cytology in 81%, core-needle biopsy in 9% and incisional biopsy in 10%. The frequency of amputations has decreased from 15% in 1986-88 to 9% in 1995-1997. A wide surgical margin was achieved in 77% of subcutaneous and 60% of deep-seated lesions. Overall, 24% of operated STS patients had adjuvant radiotherapy. The use of such therapy at sarcoma centers increased from 20% 1986-88 to 30% in 1995-97. Follow-up has been reported in 96% of the patients. The cumulative local recurrence rate was 0.20 at 5 years and 0.24 at 10 years. The 5-year metastasis-free survival rate was 0.70.
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  • Bauer, HCF, et al. (författare)
  • The Scandinavian Sarcoma Group Register
  • 1999
  • Ingår i: Acta orthopaedica Scandinavica. Supplementum. - : Medical Journals Sweden AB. - 0300-8827 .- 0001-6470. ; 70285, s. 41-44, s. 41-44
  • Tidskriftsartikel (refereegranskat)
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  • Berlin, S., et al. (författare)
  • Do avian mitochondria recombine?
  • 2004
  • Ingår i: Journal of Molecular Evolution. ; :58, s. 163-167
  • Tidskriftsartikel (refereegranskat)
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  • Berlin, Sofia, et al. (författare)
  • Testing for adaptive evolution of the female reproductive protein ZPC in mammals, birds and fishes reveals problems with the M7-M8 likelihood ratio test.
  • 2005
  • Ingår i: BMC Evolutionary Biology. - 1471-2148. ; 5, s. 65-
  • Tidskriftsartikel (refereegranskat)abstract
    • BACKGROUND: Adaptive evolution appears to be a common feature of reproductive proteins across a very wide range of organisms. A promising way of addressing the evolutionary forces responsible for this general phenomenon is to test for adaptive evolution in the same gene but among groups of species, which differ in their reproductive biology. One can then test evolutionary hypotheses by asking whether the variation in adaptive evolution is consistent with the variation in reproductive biology. We have attempted to apply this approach to the study of a female reproductive protein, zona pellucida C (ZPC), which has been previously shown by the use of likelihood ratio tests (LRTs) to be under positive selection in mammals. RESULTS: We tested for evidence of adaptive evolution of ZPC in 15 mammalian species, in 11 avian species and in six fish species using three different LRTs (M1a-M2a, M7-M8, and M8a-M8). The only significant findings of adaptive evolution came from the M7-M8 test in mammals and fishes. Since LRTs of adaptive evolution may yield false positives in some situations, we examined the properties of the LRTs by several different simulation methods. When we simulated data to test the robustness of the LRTs, we found that the pattern of evolution in ZPC generates an excess of false positives for the M7-M8 LRT but not for the M1a-M2a or M8a-M8 LRTs. This bias is strong enough to have generated the significant M7-M8 results for mammals and fishes. CONCLUSION: We conclude that there is no strong evidence for adaptive evolution of ZPC in any of the vertebrate groups we studied, and that the M7-M8 LRT can be biased towards false inference of adaptive evolution by certain patterns of non-adaptive evolution.
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  • Blaha, M., et al. (författare)
  • Analysis of extracorporeal photopheresis within the frame of the WAA register
  • 2021
  • Ingår i: Transfusion and apheresis science. - : Elsevier. - 1473-0502 .- 1878-1683. ; 60:5
  • Tidskriftsartikel (refereegranskat)abstract
    • The aim of the study was to investigate safety and if extracorporeal photopheresis (ECP) may change health criteria (HC) and quality of life (QoL).Material and method: 560 patients (33 % women) were treated with ECP for a total of 13,871 procedures during a 17-years period. Mean age was 48 years (±18, range 3−81 years). Self-estimation of QoL was graded: 0 (suicidal) up to 10 (best ever) and HC: 0 (Bed ridden, ICU condition) up to 10 (athletic). Adverse events were analyzed. ANOVA and paired comparisons were performed.Results: Patients were treated due to graft versus host disease (GVHD, n = 317), skin lymphoma (n = 70), solid organ transplants (n = 47), skin diseases (n = 20) and other diseases (n = 106). Adverse events (AEs) were registered in 5.4 % of the first treatments and in 1.2 % of the subsequent procedures. Severe AEs were present in 0.04 % of all procedures. No patient died due to the procedure. Tingling and stitching were the most common AE. For those with GVHD an improvement was noticed within approximately 10 procedures of ECP in the severity stage, QoL (from a mean of 6.1 to 6.8, p < 0.002) and the HC (6.1 -> 6.4, p < 0.014) and improved further with added procedures.Conclusion: Photopheresis is an established therapy with few side effects. The present study of soft variables indicate that GVHD shows benefits upon ECP within approximately 10 procedures in regard to the severity of mainly skin GVHD, and lower baseline levels of HC and QoL.
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  • Braasch, Ingo, et al. (författare)
  • The spotted gar genome illuminates vertebrate evolution and facilitates human-teleost comparisons
  • 2016
  • Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 48:4, s. 427-437
  • Tidskriftsartikel (refereegranskat)abstract
    • To connect human biology to fish biomedical models, we sequenced the genome of spotted gar (Lepisosteus oculatus), whose lineage diverged from teleosts before teleost genome duplication (TGD). The slowly evolving gar genome has conserved in content and size many entire chromosomes from bony vertebrate ancestors. Gar bridges teleosts to tetrapods by illuminating the evolution of immunity, mineralization and development (mediated, for example, by Hox, ParaHox and microRNA genes). Numerous conserved noncoding elements (CNEs; often cis regulatory) undetectable in direct human-teleost comparisons become apparent using gar: functional studies uncovered conserved roles for such cryptic CNEs, facilitating annotation of sequences identified in human genome-wide association studies. Transcriptomic analyses showed that the sums of expression domains and expression levels for duplicated teleost genes often approximate the patterns and levels of expression for gar genes, consistent with subfunctionalization. The gar genome provides a resource for understanding evolution after genome duplication, the origin of vertebrate genomes and the function of human regulatory sequences.
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  • Castor, C, et al. (författare)
  • Psychometric evaluation of the electronic faces thermometer scale for pain assessment in children 8–17 years old : A study protocol
  • 2023
  • Ingår i: Paediatric and Neonatal Pain. - : John Wiley & Sons. - 2637-3807 .- 2379-5824. ; 5:4, s. 99-109
  • Tidskriftsartikel (refereegranskat)abstract
    • It is often a challenge for a child to communicate their pain, and their possibilities to do so should be strengthened in healthcare settings. Digital self-assessment provides a potential solution for person-centered care in pain management and promotes child participation when a child is ill. A child's perception of pain assessment differs when it is assessed using digital or analog formats. As we move into the digital era, there is an urgent need to validate digital pain assessment tools, including the newly developed electronic Faces Thermometer Scale (eFTS). This study protocol describes three studies with the overall aim to evaluate psychometric properties of the eFTS for assessing pain in children 8?17?years of age. A multi-site project design combining quantitative and qualitative methods will be used for three observational studies. Study 1: 100 Swedish-speaking children will report the level of anticipated pain from vignettes describing painful situations in four levels of pain and a think-aloud method will be used for data collection. Data will be analyzed with phenomenography as well as descriptive and comparative statistics. Study 2: 600 children aged 8?17?years at pediatric and dental settings in Sweden, Denmark, Iceland, and USA will be included. Children will assess their pain intensity due to medical or dental procedures, surgery, or acute pain using three different pain Scales for each time point; the eFTS, the Faces Pain Scale Revised, and the Coloured Analogue Scale. Descriptive and comparative statistics will be used, with subanalysis taking cultural context into consideration. Study 3: A subgroup of 20 children out of these 600 children will be purposely included in an interview to describe experiences of grading their own pain using the eFTS. Qualitative data will be analyzed with content analysis. Our pilot studies showed high level of adherence to the study procedure and rendered only a small revision of background questionnaires. Preliminary analysis indicated that the instruments are adequate to be used by children and that the analysis plan is feasible. A digital pain assessment tool contributes to an increase in pain assessment in pediatric care. The Medical Research Council framework for complex interventions in healthcare supports a thorough development of a new scale. By evaluating psychometric properties in several settings by both qualitative and quantitative methods, the eFTS will become a well-validated tool to strengthen the child's voice within healthcare.
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39.
  • Castor, C, et al. (författare)
  • Psychometric evaluation of the electronic faces thermometer scale for pain assessment in children 8–17years old: A study protocol
  • 2023
  • Ingår i: Paediatric and Neonatal Pain. - : Wiley. - 2379-5824 .- 2637-3807. ; 5:4, s. 99-109
  • Tidskriftsartikel (refereegranskat)abstract
    • It is often a challenge for a child to communicate their pain, and their possibilities to do so should be strengthened in healthcare settings. Digital self-assessment provides a potential solution for person-centered care in pain management and promotes child participation when a child is ill. A child's perception of pain assessment differs when it is assessed using digital or analog formats. As we move into the digital era, there is an urgent need to validate digital pain assessment tools, including the newly developed electronic Faces Thermometer Scale (eFTS). This study protocol describes three studies with the overall aim to evaluate psychometric properties of the eFTS for assessing pain in children 8–17years of age. A multi-site project design combining quantitative and qualitative methods will be used for three observational studies. Study 1: 100 Swedish-speaking children will report the level of anticipated pain from vignettes describing painful situations in four levels of pain and a think-aloud method will be used for data collection. Data will be analyzed with phenomenography as well as descriptive and comparative statistics. Study 2: 600 children aged 8–17years at pediatric and dental settings in Sweden, Denmark, Iceland, and USA will be included. Children will assess their pain intensity due to medical or dental procedures, surgery, or acute pain using three different pain Scales for each time point; the eFTS, the Faces Pain Scale Revised, and the Coloured Analogue Scale. Descriptive and comparative statistics will be used, with subanalysis taking cultural context into consideration. Study 3: A subgroup of 20 children out of these 600 children will be purposely included in an interview to describe experiences of grading their own pain using the eFTS. Qualitative data will be analyzed with content analysis. Our pilot studies showed high level of adherence to the study procedure and rendered only a small revision of background questionnaires. Preliminary analysis indicated that the instruments are adequate to be used by children and that the analysis plan is feasible. A digital pain assessment tool contributes to an increase in pain assessment in pediatric care. The Medical Research Council framework for complex interventions in healthcare supports a thorough development of a new scale. By evaluating psychometric properties in several settings by both qualitative and quantitative methods, the eFTS will become a well-validated tool to strengthen the child's voice within healthcare.
  •  
40.
  • Chen, Jun, et al. (författare)
  • Genomic data provide new insights on the demographic history and the extent of recent material transfers in Norway spruce
  • 2019
  • Ingår i: Evolutionary Applications. - : WILEY. - 1752-4571. ; 12:8, s. 1539-1551
  • Tidskriftsartikel (refereegranskat)abstract
    • Primeval forests are today exceedingly rare in Europe, and transfer of forest reproductive material for afforestation and improvement has been very common, especially over the last two centuries. This can be a serious impediment when inferring past population movements in response to past climate changes such as the last glacial maximum (LGM), some 18,000 years ago. In the present study, we genotyped 1,672 individuals from three Picea species (P. abies, P. obovata, and P. omorika) at 400K SNPs using exome capture to infer the past demographic history of Norway spruce (P. abies) and estimate the amount of recent introduction used to establish the Norway spruce breeding program in southern Sweden. Most of these trees belong to P. abies and originate from the base populations of the Swedish breeding program. Others originate from populations across the natural ranges of the three species. Of the 1,499 individuals stemming from the breeding program, a large proportion corresponds to recent introductions from mainland Europe. The split of P. omorika occurred 23 million years ago (mya), while the divergence between P. obovata and P. abies began 17.6 mya. Demographic inferences retrieved the same main clusters within P. abies than previous studies, that is, a vast northern domain ranging from Norway to central Russia, where the species is progressively replaced by Siberian spruce (P. obovata) and two smaller domains, an Alpine domain and a Carpathian one, but also revealed further subdivision and gene flow among clusters. The three main domains divergence was ancient (15 mya), and all three went through a bottleneck corresponding to the LGM. Approximately 17% of P. abies Nordic domain migrated from P. obovata ~103K years ago, when both species had much larger effective population sizes. Our analysis of genomewide polymorphism data thus revealed the complex demographic history of Picea genus in Western Europe and highlighted the importance of material transfer in Swedish breeding program.
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41.
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42.
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43.
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44.
  • Goey, Kaitlyn K. H., et al. (författare)
  • Consensus statement on essential patient characteristics in systemic treatment trials for metastatic colorectal cancer : Supported by the ARCAD Group
  • 2018
  • Ingår i: European Journal of Cancer. - : ELSEVIER SCI LTD. - 0959-8049 .- 1879-0852. ; 100, s. 35-45
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Patient characteristics and stratification factors are key features influencing trial outcomes. However, there is substantial heterogeneity in reporting of patient characteristics and use of stratification factors in phase 3 trials investigating systemic treatment of metastatic colorectal cancer (mCRC). We aimed to develop a minimum set of essential baseline characteristics and stratification factors to include in such trials. Methods: We performed a modified, two-round Delphi survey among international experts with wide experience in the conduct and methodology of phase 3 trials of systemic treatment of mCRC. Results: Thirty mCRC experts from 15 different countries completed both consensus rounds. A total of 14 patient characteristics were included in the recommended set: age, performance status, primary tumour location, primary tumour resection, prior chemotherapy, number of metastatic sites, liver-only disease, liver involvement, surgical resection of metastases, synchronous versus metachronous metastases, (K)RAS and BRAF mutation status, microsatellite instability/mismatch repair status and number of prior treatment lines. A total of five patient characteristics were considered the most relevant stratification factors: RAS/BRAF mutation status, performance status, primary tumour sidedness and liver-only disease. Conclusions: This survey provides a minimum set of essential baseline patient characteristics and stratification factors to include in phase 3 trials of systemic treatment of mCRC. Inclusion of these patient characteristics and strata in study protocols and final study reports will improve interpretation of trial results and facilitate cross-study comparisons.
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45.
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46.
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47.
  • Lindblad-Toh, Kerstin, et al. (författare)
  • Genome sequence, comparative analysis and haplotype structure of the domestic dog.
  • 2005
  • Ingår i: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 438:7069, s. 803-19
  • Tidskriftsartikel (refereegranskat)abstract
    • Here we report a high-quality draft genome sequence of the domestic dog (Canis familiaris), together with a dense map of single nucleotide polymorphisms (SNPs) across breeds. The dog is of particular interest because it provides important evolutionary information and because existing breeds show great phenotypic diversity for morphological, physiological and behavioural traits. We use sequence comparison with the primate and rodent lineages to shed light on the structure and evolution of genomes and genes. Notably, the majority of the most highly conserved non-coding sequences in mammalian genomes are clustered near a small subset of genes with important roles in development. Analysis of SNPs reveals long-range haplotypes across the entire dog genome, and defines the nature of genetic diversity within and across breeds. The current SNP map now makes it possible for genome-wide association studies to identify genes responsible for diseases and traits, with important consequences for human and companion animal health.
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48.
  • Mörtzell Henriksson, Monica, et al. (författare)
  • Analyses of registry data of patients with anti-GBM and antineutrophil cytoplasmatic antibody-associated (ANCA) vasculitis treated with or without therapeutic apheresis
  • 2021
  • Ingår i: Transfusion and Apheresis Science. - : Elsevier BV. - 1473-0502 .- 1878-1683. ; 60:6
  • Tidskriftsartikel (refereegranskat)abstract
    • Therapeutic apheresis (TA) as a treatment for antibody-associated vasculitis (AAV) was questioned by the PEXIVAS although the MEPEX study favored TA. The aim of this study was to evaluate the efficacy of TA to improve renal function in patients consecutively included in the WAA-apheresis registry versus patients not treated with TA. Materials and methods: Included were 192 patients that suffered from anti-glomerular basement membrane disease (anti-GBM, n = 28) and antineutrophil cytoplasmic antibody-associated vasculitis of MPO or PR3 origin. Of these 119 had performed TA and the other 73 had not performed TA for theses diagnoses (CTRL). Results: Elderly had an increased risk to die within 12 months (p = 0.002). All 28 anti-GBM had renal involvement, 21 dialysis dependent. At 3 month nine (36 %) did not need dialysis. Baseline data regarding renal function of AAV patients, subtype MPO and PR3, were worse in the TA groups than in CTRL. Recovery out of dialysis was better for the PR3-TA group compared with 1) the controls of MEPEX (RR 0.59, CI 0.43−0.80) and 2) the MPO-TA patients (RR 0.28, CI 0.12−0.68). The MPO-TA recovered similarly as the MEPEX-CTRL. Renal function improved most for TA-patients from baseline during the first 3 months (MPO-TA and PR3-TA) and stabilized thereafter and less for MPO-CTRL and PR3-CTRL. Conclusion: PR3-TA patients seem to have best chances to get out of dialysis. PR3-TA and MPO-TA improved residual renal function better than CTRL. The present study recommends reconsiderations to use TA for AAV especially those with PR3-vasculitis with severe renal vasculitis.
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49.
  • Nittby, Henrietta, et al. (författare)
  • Exposure to radiation from global system for mobile communications at 1,800 MHz significantly changes gene expression in rat hippocampus and cortex
  • 2008
  • Ingår i: The Environmentalist. - : Springer Science and Business Media LLC. - 0251-1088 .- 1573-2991. ; 28:4, s. 458-465
  • Tidskriftsartikel (refereegranskat)abstract
    • We have earlier shown that radio frequency electromagnetic fields can cause significant leakage of albumin through the blood-brain barrier of exposed rats as compared to non-exposed rats, and also significant neuronal damage in rat brains several weeks after a 2 h exposure to a mobile phone, at 915 MHz with a global system for mobile communications (GSM) frequency modulation, at whole-body specific absorption rate values (SAR) of 200, 20, 2, and 0.2 mW/kg. We have now studied whether 6 h of exposure to the radiation from a GSM mobile test phone at 1,800 MHz (at a whole-body SAR-value of 13 mW/kg, corresponding to a brain SAR-value of 30 mW/kg) has an effect upon the gene expression pattern in rat brain cortex and hippocampus-areas where we have observed albumin leakage from capillaries into neurons and neuronal damage. Microarray analysis of 31,099 rat genes, including splicing variants, was performed in cortex and hippocampus of 8 Fischer 344 rats, 4 animals exposed to global system for mobile communications electromagnetic fields for 6 h in an anechoic chamber, one rat at a time, and 4 controls kept as long in the same anechoic chamber without exposure, also in this case one rat at a time. Gene ontology analysis (using the gene ontology categories biological processes, molecular functions, and cell components) of the differentially expressed genes of the exposed animals versus the control group revealed the following highly significant altered gene categories in both cortex and hippocampus: extracellular region, signal transducer activity, intrinsic to membrane, and integral to membrane. The fact that most of these categories are connected with membrane functions may have a relation to our earlier observation of albumin transport through brain capillaries.
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50.
  • Norda, Rut, et al. (författare)
  • Recognition of inter-center differences may help develop best practice : Analysis of data from the Swedish Apheresis Registry
  • 2008
  • Ingår i: Therapeutic apheresis and dialysis. - : Wiley. - 1744-9979. ; 12:5, s. 347-354
  • Tidskriftsartikel (refereegranskat)abstract
    • The Swedish Apheresis Registry is a National Quality Registry and performing intercenter comparisons can be done as one task. The purpose of this study was to evaluate differences in adverse effects (AE) associated with plasma exchange (PE) for the development of best practice. Six hundred and twenty reports of AE related to a total of 12 461 apheresis procedures performed during 1996-2002 were analyzed, and eight Swedish university hospital centers that reported AE every year were compared. About 70% of all PE in Sweden were performed in centers that also reported AE. During this period, there was no change in the proportion of PE procedures with AE, but there was a decrease in the frequency of prematurely interrupted procedures (2.1% to 1.3%, P=0.003). The mean frequency of moderate and severe AE was 5%. Adverse effects were more common when PE was performed in patients with Guillain-Barrel syndrome (GBS; 10%) or thrombotic thrombocytopenic purpura-hemolytic uremic syndrome (TTP-HUS; 8%) than in patients with macroglobulinemia/hyperviscosity syndromes (2%). In the eight centers, there was a four-fold difference in AE between the centers with the highest and the lowest frequency. The frequency of AE in GBS, TTP-HUS and macroglobulinemia/hyperviscosity syndromes differed four-fold, while the frequency of specified symptoms differed more than four-fold. The indications and the choice of substitution fluids could explain some of these differences. The results of the study have initiated changes in practice. The identification of significant intercenter differences in the frequency and symptoms of AE has started improvement in current PE practices.
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