| 1. |
- Weinstein, John N., et al.
(författare)
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The cancer genome atlas pan-cancer analysis project
- 2013
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 45:10, s. 1113-1120
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Forskningsöversikt (refereegranskat)abstract
- The Cancer Genome Atlas (TCGA) Research Network has profiled and analyzed large numbers of human tumors to discover molecular aberrations at the DNA, RNA, protein and epigenetic levels. The resulting rich data provide a major opportunity to develop an integrated picture of commonalities, differences and emergent themes across tumor lineages. The Pan-Cancer initiative compares the first 12 tumor types profiled by TCGA. Analysis of the molecular aberrations and their functional roles across tumor types will teach us how to extend therapies effective in one cancer type to others with a similar genomic profile. © 2013 Nature America, Inc. All rights reserved.
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| 2. |
- Abbott, Benjamin W., et al.
(författare)
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Biomass offsets little or none of permafrost carbon release from soils, streams, and wildfire : an expert assessment
- 2016
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Ingår i: Environmental Research Letters. - : IOP Publishing. - 1748-9326. ; 11:3
-
Tidskriftsartikel (refereegranskat)abstract
- As the permafrost region warms, its large organic carbon pool will be increasingly vulnerable to decomposition, combustion, and hydrologic export. Models predict that some portion of this release will be offset by increased production of Arctic and boreal biomass; however, the lack of robust estimates of net carbon balance increases the risk of further overshooting international emissions targets. Precise empirical or model-based assessments of the critical factors driving carbon balance are unlikely in the near future, so to address this gap, we present estimates from 98 permafrost-region experts of the response of biomass, wildfire, and hydrologic carbon flux to climate change. Results suggest that contrary to model projections, total permafrost-region biomass could decrease due to water stress and disturbance, factors that are not adequately incorporated in current models. Assessments indicate that end-of-the-century organic carbon release from Arctic rivers and collapsing coastlines could increase by 75% while carbon loss via burning could increase four-fold. Experts identified water balance, shifts in vegetation community, and permafrost degradation as the key sources of uncertainty in predicting future system response. In combination with previous findings, results suggest the permafrost region will become a carbon source to the atmosphere by 2100 regardless of warming scenario but that 65%-85% of permafrost carbon release can still be avoided if human emissions are actively reduced.
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| 3. |
- Antel, C., et al.
(författare)
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Feebly-interacting particles : FIPs 2022 Workshop Report
- 2023
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Ingår i: European Physical Journal C. - : Springer. - 1434-6044 .- 1434-6052. ; 83:12
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Forskningsöversikt (refereegranskat)abstract
- Particle physics today faces the challenge of explaining the mystery of dark matter, the origin of matter over anti-matter in the Universe, the origin of the neutrino masses, the apparent fine-tuning of the electro-weak scale, and many other aspects of fundamental physics. Perhaps the most striking frontier to emerge in the search for answers involves new physics at mass scales comparable to familiar matter, below the GeV-scale, or even radically below, down to sub-eV scales, and with very feeble interaction strength. New theoretical ideas to address dark matter and other fundamental questions predict such feebly interacting particles (FIPs) at these scales, and indeed, existing data provide numerous hints for such possibility. A vibrant experimental program to discover such physics is under way, guided by a systematic theoretical approach firmly grounded on the underlying principles of the Standard Model. This document represents the report of the FIPs 2022 workshop, held at CERN between the 17 and 21 October 2022 and aims to give an overview of these efforts, their motivations, and the decadal goals that animate the community involved in the search for FIPs.
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| 4. |
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| 5. |
- Papadopoulos, N G, et al.
(författare)
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International consensus on (ICON) pediatric asthma.
- 2012
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Ingår i: Allergy. - : Wiley. - 1398-9995 .- 0105-4538. ; 67:8, s. 976-97
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Tidskriftsartikel (refereegranskat)abstract
- Asthma is the most common chronic lower respiratory disease in childhood throughout the world. Several guidelines and/or consensus documents are available to support medical decisions on pediatric asthma. Although there is no doubt that the use of common systematic approaches for management can considerably improve outcomes, dissemination and implementation of these are still major challenges. Consequently, the International Collaboration in Asthma, Allergy and Immunology (iCAALL), recently formed by the EAACI, AAAAI, ACAAI, and WAO, has decided to propose an International Consensus on (ICON) Pediatric Asthma. The purpose of this document is to highlight the key messages that are common to many of the existing guidelines, while critically reviewing and commenting on any differences, thus providing a concise reference. The principles of pediatric asthma management are generally accepted. Overall, the treatment goal is disease control. To achieve this, patients and their parents should be educated to optimally manage the disease, in collaboration with healthcare professionals. Identification and avoidance of triggers is also of significant importance. Assessment and monitoring should be performed regularly to re-evaluate and fine-tune treatment. Pharmacotherapy is the cornerstone of treatment. The optimal use of medication can, in most cases, help patients control symptoms and reduce the risk for future morbidity. The management of exacerbations is a major consideration, independent of chronic treatment. There is a trend toward considering phenotype-specific treatment choices; however, this goal has not yet been achieved.
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| 6. |
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| 7. |
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| 8. |
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| 9. |
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| 10. |
- Sansone, G., et al.
(författare)
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Attosecond excitation of electron wavepackets
- 2008
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Ingår i: Quantum Electronics and Laser Science Conference, QELS 2008. - 9781557528599
-
Konferensbidrag (refereegranskat)abstract
- We present experiments, supported by time-dependent Schrödinger simulations, on the dynamics of Helium bound states after an attosecond excitation in the presence of a strong infrared laser field.
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| 11. |
- Sansone, G., et al.
(författare)
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Electron localization following attosecond molecular photoionization
- 2010
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 465:7299, s. 3-763
-
Tidskriftsartikel (refereegranskat)abstract
- For the past several decades, we have been able to directly probe the motion of atoms that is associated with chemical transformations and which occurs on the femtosecond (10(-15)-s) timescale. However, studying the inner workings of atoms and molecules on the electronic timescale(1-4) has become possible only with the recent development of isolated attosecond (10(-18)-s) laser pulses(5). Such pulses have been used to investigate atomic photoexcitation and photoionization(6,7) and electron dynamics in solids(8), and in molecules could help explore the prompt charge redistribution and localization that accompany photoexcitation processes. In recent work, the dissociative ionization of H-2 and D-2 was monitored on femtosecond timescales(9) and controlled using few-cycle near-infrared laser pulses(10). Here we report a molecular attosecond pump-probe experiment based on that work: H-2 and D-2 are dissociatively ionized by a sequence comprising an isolated attosecond ultraviolet pulse and an intense few-cycle infrared pulse, and a localization of the electronic charge distribution within the molecule is measured that depends-with attosecond time resolution-on the delay between the pump and probe pulses. The localization occurs by means of two mechanisms, where the infrared laser influences the photoionization or the dissociation of the molecular ion. In the first case, charge localization arises from quantum mechanical interference involving autoionizing states and the laser-altered wavefunction of the departing electron. In the second case, charge localization arises owing to laser-driven population transfer between different electronic states of the molecular ion. These results establish attosecond pump-probe strategies as a powerful tool for investigating the complex molecular dynamics that result from the coupling between electronic and nuclear motions beyond the usual Born-Oppenheimer approximation.
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| 12. |
- Alimena, Juliette, et al.
(författare)
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Searching for long-lived particles beyond the Standard Model at the Large Hadron Collider
- 2020
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Ingår i: Journal of Physics G. - : IOP Publishing. - 0954-3899 .- 1361-6471. ; 47:9
-
Tidskriftsartikel (refereegranskat)abstract
- Particles beyond the Standard Model (SM) can generically have lifetimes that are long compared to SM particles at the weak scale. When produced at experiments such as the Large Hadron Collider (LHC) at CERN, these long-lived particles (LLPs) can decay far from the interaction vertex of the primary proton-proton collision. Such LLP signatures are distinct from those of promptly decaying particles that are targeted by the majority of searches for new physics at the LHC, often requiring customized techniques to identify, for example, significantly displaced decay vertices, tracks with atypical properties, and short track segments. Given their non-standard nature, a comprehensive overview of LLP signatures at the LHC is beneficial to ensure that possible avenues of the discovery of new physics are not overlooked. Here we report on the joint work of a community of theorists and experimentalists with the ATLAS, CMS, and LHCb experiments-as well as those working on dedicated experiments such as MoEDAL, milliQan, MATHUSLA, CODEX-b, and FASER-to survey the current state of LLP searches at the LHC, and to chart a path for the development of LLP searches into the future, both in the upcoming Run 3 and at the high-luminosity LHC. The work is organized around the current and future potential capabilities of LHC experiments to generally discover new LLPs, and takes a signature-based approach to surveying classes of models that give rise to LLPs rather than emphasizing any particular theory motivation. We develop a set of simplified models; assess the coverage of current searches; document known, often unexpected backgrounds; explore the capabilities of proposed detector upgrades; provide recommendations for the presentation of search results; and look towards the newest frontiers, namely high-multiplicity 'dark showers', highlighting opportunities for expanding the LHC reach for these signals.
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| 13. |
- Ballantyne, Kaye N., et al.
(författare)
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Toward Male Individualization with Rapidly Mutating Y-Chromosomal Short Tandem Repeats
- 2014
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Ingår i: Human Mutation. - : John Wiley & Sons. - 1059-7794 .- 1098-1004. ; 35:8, s. 1021-1032
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Tidskriftsartikel (refereegranskat)abstract
- Relevant for various areas of human genetics, Y-chromosomal short tandem repeats (Y-STRs) are commonly used for testing close paternal relationships among individuals and populations, and for male lineage identification. However, even the widely used 17-loci Yfiler set cannot resolve individuals and populations completely. Here, 52 centers generated quality-controlled data of 13 rapidly mutating (RM) Y-STRs in 14,644 related and unrelated males from 111 worldwide populations. Strikingly, greater than99% of the 12,272 unrelated males were completely individualized. Haplotype diversity was extremely high (global: 0.9999985, regional: 0.99836-0.9999988). Haplotype sharing between populations was almost absent except for six (0.05%) of the 12,156 haplotypes. Haplotype sharing within populations was generally rare (0.8% nonunique haplotypes), significantly lower in urban (0.9%) than rural (2.1%) and highest in endogamous groups (14.3%). Analysis of molecular variance revealed 99.98% of variation within populations, 0.018% among populations within groups, and 0.002% among groups. Of the 2,372 newly and 156 previously typed male relative pairs, 29% were differentiated including 27% of the 2,378 father-son pairs. Relative to Yfiler, haplotype diversity was increased in 86% of the populations tested and overall male relative differentiation was raised by 23.5%. Our study demonstrates the value of RMY-STRs in identifying and separating unrelated and related males and provides a reference database.
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| 14. |
- Gherasim, A., et al.
(författare)
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Two geographically separated food-borne outbreaks in Sweden linked by an unusual Cryptosporidium parvum subtype, October 2010
- 2012
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Ingår i: EUROSURVEILLANCE. - 1560-7917. ; 17:46, s. 29-36
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Tidskriftsartikel (refereegranskat)abstract
- The number of sporadic cases of Cryptosporidium identified in the Stockholm county area increased above the expected limit during October 2010. Additionally, two food-borne outbreaks of cryptosporidiosis occurred in two other Swedish cities: Umea (4 October) and Orebro (9 October). The outbreak investigations did not reveal any responsible food item, however fresh herbs were suspected. Thirty stool samples, originating from all three events, tested positive for Cryptosporidium oocysts. Polymerase chain reaction (PCR) and subsequent restriction fragment length polymorphism (RFLP) revealed that 27 individuals were infected with C. parvum, two with C. hominis, and one with C. felis. Using sequence analysis of the GP60 glycoprotein gene, a polymorphic marker with high intra-species diversity, we identified the same C. parvum subtype IIdA24G1 in samples from both the Umea outbreak and the Stockholm area cases, thus indicating a possible outbreak in the Stockholm area and establishing a link between these two events. C. parvum IIdA24G1 has not previously been described in connection with a food-borne outbreak. For the outbreak in Orebro, another subtype was identified: C. parvum IIdA20G1e. These findings demonstrate that subtyping C. parvum isolates using GP60 gene amplification can be used to link cases in an outbreak investigation and we recommend its use in future similar events.
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| 15. |
- Kelkensberg, F., et al.
(författare)
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Molecular Dissociative Ionization and Wave-Packet Dynamics Studied Using Two-Color XUV and IR Pump-Probe Spectroscopy
- 2009
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Ingår i: Physical Review Letters. - 1079-7114. ; 103:12
-
Tidskriftsartikel (refereegranskat)abstract
- We present a combined theoretical and experimental study of ultrafast wave-packet dynamics in the dissociative ionization of H-2 molecules as a result of irradiation with an extreme-ultraviolet (XUV) pulse followed by an infrared (IR) pulse. In experiments where the duration of both the XUV and IR pulses are shorter than the vibrational period of H-2+, dephasing and rephasing of the vibrational wave packet that is formed in H-2+ upon ionization of the neutral molecule by the XUV pulse is observed. In experiments where the duration of the IR pulse exceeds the vibrational period of H-2+ (15 fs), a pronounced dependence of the H+ kinetic energy distribution on XUV-IR delay is observed that can be explained in terms of the adiabatic propagation of the H-2+ wave packet on field-dressed potential energy curves.
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| 16. |
- Mauritsson, Johan, et al.
(författare)
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Attosecond Electron Spectroscopy Using a Novel Interferometric Pump-Probe Technique
- 2010
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Ingår i: Physical Review Letters. - 1079-7114. ; 105:5
-
Tidskriftsartikel (refereegranskat)abstract
- We present an interferometric pump-probe technique for the characterization of attosecond electron wave packets (WPs) that uses a free WP as a reference to measure a bound WP. We demonstrate our method by exciting helium atoms using an attosecond pulse (AP) with a bandwidth centered near the ionization threshold, thus creating both a bound and a free WP simultaneously. After a variable delay, the bound WP is ionized by a few-cycle infrared laser precisely synchronized to the original AP. By measuring the delay-dependent photoelectron spectrum we obtain an interferogram that contains both quantum beats as well as multipath interference. Analysis of the interferogram allows us to determine the bound WP components with a spectral resolution much better than the inverse of the AP duration.
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| 17. |
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| 18. |
- Anchordoqui, Luis A., et al.
(författare)
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The Forward Physics Facility : Sites, experiments, and physics potential
- 2022
-
Ingår i: Physics reports. - : Elsevier. - 0370-1573 .- 1873-6270. ; 968, s. 1-50
-
Tidskriftsartikel (refereegranskat)abstract
- The Forward Physics Facility (FPF) is a proposal to create a cavern with the space and infrastructure to support a suite of far-forward experiments at the Large Hadron Collider during the High Luminosity era. Located along the beam collision axis and shielded from the interaction point by at least 100 m of concrete and rock, the FPF will house experiments that will detect particles outside the acceptance of the existing large LHC experiments and will observe rare and exotic processes in an extremely low-background environment. In this work, we summarize the current status of plans for the FPF, including recent progress in civil engineering in identifying promising sites for the FPF and the experiments currently envisioned to realize the FPF's physics potential. We then review the many Standard Model and new physics topics that will be advanced by the FPF, including searches for long-lived particles, probes of dark matter and dark sectors, high-statistics studies of TeV neutrinos of all three flavors, aspects of perturbative and non-perturbative QCD, and high-energy astroparticle physics.
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| 19. |
- Bock, B.B., et al.
(författare)
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Farmers' Relationship with Different Animals: The Importance of Getting Close to the Animals - Case Studies of French, Swedish and Dutch Cattle, Pig and Poultry Farmers.
- 2007
-
Ingår i: International Journal of Sociology of Agriculture and Food.. - 0798-1759. ; 15:3, s. 108-125
-
Tidskriftsartikel (refereegranskat)abstract
- The article analyses how cattle and poultry farmers in the Netherlands described their relationship with their farm animals and explores the factors that influence their level of attachment to them. The analysis draws upon Willkie’s (2005) framework of farmer-animal relationship, which distinguishes between different levels of attachment and detachment. This framework was useful for explaining why farmers developed different levels of attachment to animals, with the species, farm sector and housing system all playing roles in influencing this. Farmers tended to be more attached to cows than to chickens and felt more attachment towards breeding, as opposed to fattening, animals. Breeding, especially of cows, linked the animal to the personal histories of farmers, since their ancestors had often established the bloodlines of dairy cows. Farmers’ relationships with their animals were also influenced by the organization of production at the farm: the number of animals, their length of stay on the farm and the housing system. These factors all influenced the visibility of the animal as an individual and as a ‘real’ animal and not a living tool of production. The species and function of an animal and the organization of production largely defined the frequency, intensity and intimacy of farmers’ contact with individual animals. Practically all farmers (across sectors) perceived taking good care of animals and avoidance of suffering as a core element of their job and caring about animals as central to their definition of a ‘good farmer’. Beyond this, different groups of farmers showed clear differences in their level of attachment to their animals. In general dairy farmers felt more strongly attached to their dairy cows than farmers to their beef cattle or veal, whereas most poultry farmers felt rather detached from their chicken, and tended to perceive them as part of a flock and ‘living production tools’. These animals were not only de-individualized; at times and when seen solely as part of a meat and egg production system they were almost de-animalized.
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| 20. |
- Cardenas, D. E., et al.
(författare)
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Sub-cycle dynamics in relativistic nanoplasma acceleration
- 2019
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Ingår i: Scientific Reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 9
-
Tidskriftsartikel (refereegranskat)abstract
- The interaction of light with nanometer-sized solids provides the means of focusing optical radiation to sub-wavelength spatial scales with associated electric field enhancements offering new opportunities for multifaceted applications. We utilize collective effects in nanoplasmas with sub-two-cycle light pulses of extreme intensity to extend the waveform-dependent electron acceleration regime into the relativistic realm, by using 106 times higher intensity than previous works to date. Through irradiation of nanometric tungsten needles, we obtain multi-MeV energy electron bunches, whose energy and direction can be steered by the combined effect of the induced near-field and the laser field. We identified a two-step mechanism for the electron acceleration: (i) ejection within a sub-half-optical-cycle into the near-field from the target at >TVm−1 acceleration fields, and (ii) subsequent acceleration in vacuum by the intense laser field. Our observations raise the prospect of isolating and controlling relativistic attosecond electron bunches, and pave the way for next generation electron and photon sources.
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| 21. |
- Carlsson, R. M., et al.
(författare)
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Surveillance of infant pertussis in Sweden 1998-2012; severity of disease in relation to the national vaccination programme
- 2015
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Ingår i: Eurosurveillance. - : EUR CENTRE DIS PREVENTION and CONTROL. - 1025-496X .- 1560-7917. ; 20:6
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Tidskriftsartikel (refereegranskat)abstract
- In Sweden, pertussis was excluded from the national vaccination programme in 1979 until acellular vaccination was introduced in a highly endemic setting in 1996. The general incidence dropped 10-fold within a decade, less in infants. Infant pertussis reached 40–45 cases per 100,000 in 2008 to 2012; few of these cases were older than five months. We present an observational 15-year study on the severity of infant pertussis based on 1,443 laboratory-confirmed cases prospectively identified from 1998 to 2012 in the national mandatory reporting system and followed up by telephone contact. Analyses were made in relation to age at onset of symptoms and vaccination history. Pertussis decreased in non-vaccinated infants (2003 to 2012, p < 0.001), indicating herd immunity, both in those too young to be vaccinated and those older than three months. The hospitalisation rates also decreased (last five-year period vs the previous five-year periods, p <0.001), but 70% of all cases in under three month-old infants and 99% of cases with apnoea due to pertussis were admitted to hospital in 1998 to 2012. Median duration of hospitalisation was seven days for unvaccinated vs four days for vaccinated infants aged 3–5 months. Nine unvaccinated infants died during the study period.
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| 22. |
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| 23. |
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| 24. |
- Lepine, F., et al.
(författare)
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Short XUV pulses to characterize field-free molecular alignment
- 2007
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Ingår i: Journal of Modern Optics. - : Informa UK Limited. - 0950-0340 .- 1362-3044. ; 54:7, s. 953-966
-
Tidskriftsartikel (refereegranskat)abstract
- We present experiments on field-free molecular alignment of N-2 and CO2 probed with short XUV pulses that are obtained via high-harmonic generation. The XUV pulses induce a dissociative ionization or a Coulomb explosion of the molecule, where the fragment ion recoil (measured using the velocity map imaging technique) provides information on the alignment of the parent molecule at the time of ionization. We discuss how photoelectron detection may in future allow the determination of molecular-frame photoelectron angular distributions and molecular structure.
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| 25. |
- Levin, Simon A., et al.
(författare)
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Governance in the Face of Extreme Events : Lessons from Evolutionary Processes for Structuring Interventions, and the Need to Go Beyond
- 2022
-
Ingår i: Ecosystems (New York. Print). - : Springer Science and Business Media LLC. - 1432-9840 .- 1435-0629. ; 25:3, s. 697-711
-
Tidskriftsartikel (refereegranskat)abstract
- The increasing frequency of extreme events, exogenous and endogenous, poses challenges for our societies. The current pandemic is a case in point; but once-in-a-century weather events are also becoming more common, leading to erosion, wildfire and even volcanic events that change ecosystems and disturbance regimes, threaten the sustainability of our life-support systems, and challenge the robustness and resilience of societies. Dealing with extremes will require new approaches and large-scale collective action. Preemptive measures can increase general resilience, a first line of protection, while more specific reactive responses are developed. Preemptive measures also can minimize the negative effects of events that cannot be avoided. In this paper, we first explore approaches to prevention, mitigation and adaptation, drawing inspiration from how evolutionary challenges have made biological systems robust and resilient, and from the general theory of complex adaptive systems. We argue further that proactive steps that go beyond will be necessary to reduce unacceptable consequences.
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| 26. |
- L'Huillier, A., et al.
(författare)
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Atomic physics with attosecond pulses
- 2006
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Ingår i: International Conference on Ultrafast Phenomena, UP 2006. - 1557528101 - 9781557528100
-
Konferensbidrag (refereegranskat)
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| 27. |
- Montandon, A. J., et al.
(författare)
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Direct estimate of the haemophilia B (factor IX deficiency) mutation rate and of the ratio of the sex-specific mutation rates in Sweden
- 1992
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Ingår i: Human Genetics. - 0340-6717. ; 89:3, s. 319-322
-
Tidskriftsartikel (refereegranskat)abstract
- Mutation rates for X-linked recessive diseases have so far been estimated indirectly by postulating an equilibrium between the loss of defective genes caused by the low reproductive fitness of affected males and the gain resulting from new mutations. Here, for the first time, we directly estimate both the overall and sex-specific mutation rates for haemophilia B by detecting the gene defect of the families registered at the Malmö Haemophilia Centre. These represent a complete sample of the Swedish haemophilia B population (45 out of 77 pedigrees) and contain 23 families with a single affected male. Fifteen of these males had mothers available for study, and of these mothers, 13 had parents available for study. We show that 3 of the above patients and 10 of their mothers carry new mutations, and by extrapolation calculate that 8 males and 98 females should carry new haemophilia B mutations in the Swedish population (8.52 × 106 individuals). This leads to the following estimate of the mutation rates: overall μ = 4.1 × 10-6; male specific v = 2.1 × 10-5; and female specific u = 1.9 × 10-6. The ratio of such male to female specific mutation rates is thus v/u = 11.
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| 28. |
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| 29. |
- O'Bryant, S. E., et al.
(författare)
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Comparing biological markers of Alzheimer's disease across blood fraction and platforms: Comparing apples to oranges
- 2016
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Ingår i: Alzheimer's & Dementia. - : Wiley. - 1552-5260 .- 1552-5279. ; 3, s. 27-34
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Tidskriftsartikel (refereegranskat)abstract
- Introduction: This study investigated the comparability of potential Alzheimer's disease (AD) biomarkers across blood fractions and assay platforms. Methods: Nonfasting serum and plasma samples from 300 participants (150 AD patients and 150 controls) were analyzed. Proteomic markers were obtained via electrochemiluminescence or Luminex technology. Comparisons were conducted via Pearson correlations. The relative importance of proteins within an AD diagnostic profile was examined using random forest importance plots. Results: On the Meso Scale Discovery multiplex platform, 10 of the 21 markers shared >50% of the variance across blood fractions (serum amyloid A R2 = 0.99, interleukin (IL)10 R2 = 0.95, fatty acid-binding protein (FABP) R2 = 0.94, I309 R2 = 0.94, IL-5 R2 = 0.94, IL-6 R2 = 0.94, eotaxin3 R2 = 0.91, IL-18 R2 = 0.87, soluble tumor necrosis factor receptor 1 R2 = 0.85, and pancreatic polypeptide R2 = 0.81). When examining protein concentrations across platforms, only five markers shared >50% of the variance (beta 2 microglobulin R2 = 0.92, IL-18 R2 = 0.80, factor VII R2 = 0.78, CRP R2 = 0.74, and FABP R2 = 0.70). Discussion: The current findings highlight the importance of considering blood fractions and assay platforms when searching for AD relevant biomarkers. © 2016 The Authors.
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| 30. |
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| 31. |
- Tillmar, Andreas, et al.
(författare)
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DNA Commission of the International Society for Forensic Genetics ( ISFG): Guidelines on the use of X-STRs in kinship analysis
- 2017
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Ingår i: Forensic Science International. - : ELSEVIER IRELAND LTD. - 1872-4973 .- 1878-0326. ; 29, s. 269-275
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Tidskriftsartikel (refereegranskat)abstract
- Forensic genetic laboratories perform an increasing amount of genetic analyses of the X chromosome, in particular to solve complex cases of kinship analysis. For some biological relationships X-chromosomal markers can be more informative than autosomal markers, and there are a large number of markers, methods and databases that have been described for forensic use. Due to their particular mode of inheritance, and their physical location on a single chromosome, some specific considerations are required when estimating the weight of evidence for X-chromosomal marker DNA data. The DNA Commission of the International Society for Forensic Genetics (ISFG) hereby presents guidelines and recommendations for the use of X-chromosomal markers in kinship analysis with a special focus on the biostatistical evaluation. Linkage and linkage disequilibrium (association of alleles) are of special importance for such evaluations and these concepts and the implications for likelihood calculations are described in more detail. Furthermore it is important to use appropriate computer software that accounts for linkage and linkage disequilibrium among loci, as well as for mutations. Even though some software exist, there is still a need for further improvement of dedicated software. (C) 2017 Elsevier B.V. All rights reserved.
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| 32. |
- Trubetskaya, Anna, et al.
(författare)
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Characterization and reactivity of soot from fast pyrolysis of lignocellulosic compounds and monolignols
- 2018
-
Ingår i: Applied Energy. - Oxford : Elsevier. - 0306-2619 .- 1872-9118. ; 212, s. 1489-1500
-
Tidskriftsartikel (refereegranskat)abstract
- This study presents the effect of lignocellulosic compounds and monolignols on the yield, nanostructure and reactivity of soot generated at 1250 °C in a drop tube furnace. The structure of soot was characterized by electron microscopy techniques, Raman spectroscopy and electron spin resonance spectroscopy. The CO2 reactivity of soot was investigated by thermogravimetric analysis. Soot from cellulose was more reactive than soot produced from extractives, lignin and monolignols. Soot reactivity was correlated with the separation distances between adjacent graphene layers, as measured using transmission electron microscopy. Particle size, free radical concentration, differences in a degree of curvature and multi-core structures influenced the soot reactivity less than the interlayer separation distances. Soot yield was correlated with the lignin content of the feedstock. The selection of the extraction solvent had a strong influence on the soot reactivity. The Soxhlet extraction of softwood and wheat straw lignin soot using methanol decreased the soot reactivity, whereas acetone extraction had only a modest effect.
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| 33. |
- Varju, Katalin, et al.
(författare)
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Angularly resolved electron wave packet interferences
- 2006
-
Ingår i: Journal of Physics B: Atomic, Molecular and Optical Physics. - : IOP Publishing. - 0953-4075 .- 1361-6455. ; 39:18, s. 3983-3991
-
Tidskriftsartikel (refereegranskat)abstract
- We study experimentally the ionization of argon atoms by a train of attosecond pulses in the presence of a strong infrared laser field, using a velocity map imaging technique. The recorded momentum distribution strongly depends on the delay between the attosecond pulses and the laser field. We interpret the interference patterns observed for different delays using numerical and analytical calculations within the strong field approximation.
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| 34. |
- de Haan, J. E. S., et al.
(författare)
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Stabilising system frequency using HVDC between the Continental European, Nordic, and Great Britain systems
- 2016
-
Ingår i: Sustainable Energy, Grids and Networks. - : Elsevier. - 2352-4677. ; 5, s. 125-134
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Tidskriftsartikel (refereegranskat)abstract
- For future efficiency improvement of the frequency containment process (primary control) within European power systems, cooperation between (multiple) synchronous areas using their controllable HVDC interconnections is optioned. However, the differences in system size, HVDC interconnection capacity, and the balancing performance per individual system will have its specific system frequency effect for each different balancing cooperation concept. Consequently, without alignment on cooperation, HVDC balancing might lead to disproportional support between systems, to frequency oscillations, reserve unreliability and non-compliancy, and to network constraints. Therefore, this work assesses frequency quality and associated DC power flows for several balancing arrangements, using a developed load-frequency control model with frequency interdependency for coupled power system. For a trilateral balancing cooperation case study, it is found that certain cooperation concepts result in undesired frequency oscillation and poor frequency quality. However, cooperation where especially fast-response services are shared, such as virtual inertia, show improved system frequency performance. For the case where power imbalances are proportionately distributed among the systems, it is concluded that power transfers over HVDC interconnections are limited and additional control optimisation can be performed. Those concepts with aligned central or coordinated control show best results for a future cooperation for balancing between synchronous areas.
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| 35. |
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| 36. |
- Fedele, Vita, et al.
(författare)
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Epigenetic Regulation of ZBTB18 Promotes Glioblastoma Progression
- 2017
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Ingår i: Molecular Cancer Research. - : AMER ASSOC CANCER RESEARCH. - 1541-7786 .- 1557-3125. ; 15:8, s. 998-1011
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Tidskriftsartikel (refereegranskat)abstract
- Glioblastoma (GBM) comprises distinct subtypes characterized by their molecular profile. Mesenchymal identity in GBM has been associated with a comparatively unfavorable prognosis, primarily due to inherent resistance of these tumors to current therapies. The identification of molecular determinants of mesenchymal transformation could potentially allow for the discovery of new therapeutic targets. Zinc Finger and BTB Domain Containing 18 (ZBTB18/ZNF238/RP58) is a zinc finger transcriptional repressor with a crucial role in brain development and neuronal differentiation. Here, ZBTB18 is primarily silenced in the mesenchymal subtype of GBM through aberrant promoter methylation. Loss of ZBTB18 contributes to the aggressive phenotype of glioblastoma through regulation of poor prognosis-associated signatures. Restitution of ZBTB18 expression reverses the phenotype and impairs tumor-forming ability. These results indicate that ZBTB18 functions as a tumor suppressor in GBM through the regulation of genes associated with phenotypically aggressive properties.
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| 37. |
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| 38. |
- Froiland, E., et al.
(författare)
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Seasonal appetite regulation in the anadromous Arctic charr: Evidence for a role of adiposity in the regulation of appetite but not for leptin in signalling adiposity
- 2012
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Ingår i: General and Comparative Endocrinology. - : Elsevier BV. - 0016-6480. ; 178:2, s. 330-337
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Tidskriftsartikel (refereegranskat)abstract
- The aim of this study was to investigate whether the seasonal feeding cycle of the anadromous Arctic charr (Salvelinus alpinus) is regulated by a lipostatic mechanism and if leptin (Lep) might act as an endocrine signal of adiposity. Offspring of anadromous Arctic charr with a body mass of 121 g were divided into two treatment groups; one was given feed in excess from March to November. and the other was fasted between April and early June and fed in excess thereafter. In the continuously fed group there was an 8-fold increase in body mass, and a doubling of percentage body fat, from March to August, after which there was no further increase. Fish in the other group lost weight and body fat during fasting, but grew rapidly on being fed, and had partially compensated for their deficit in body mass by August. Differences in percentage body fat between treatment groups were eliminated by August. providing evidence for a lipostatic regulation of feeding and energy homeostasis in Arctic charr. Neither liver total LepA gene expression nor plasma Lep concentrations correlated positively with fish adiposity, so there was no evidence that Lep acts as a signal of adiposity in this species. On the other hand, there was a strong increase in liver LepA1 gene expression at the end of the fasting period, concomitant with fat mobilization and increased plasma glucose, indicating that LepA1 may play a role in regulating metabolic processes associated with fasting. (C) 2012 Elsevier Inc. All rights reserved.
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| 39. |
- Fuentes, E. N., et al.
(författare)
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Plasma leptin and growth hormone levels in the fine flounder (Paralichthys adspersus) increase gradually during fasting and decline rapidly after refeeding
- 2012
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Ingår i: General and Comparative Endocrinology. - : Elsevier BV. - 0016-6480. ; 177:1, s. 120-127
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Tidskriftsartikel (refereegranskat)abstract
- In fish, recent studies have indicated an anorexigenic role of leptin and thus its possible involvement in regulation of energy balance and growth. In the present study, the effects of fasting and refeeding periods on plasma leptin levels were studied in the fine flounder, a flatfish with remarkably slow growth. To further assess the endocrine status of the fish during periods of catabolism and anabolism, plasma growth hormone (GH) levels were also analyzed. Under normal feeding condition, plasma leptin and CH levels remained stable and relatively high in comparison with other teleost species. For the three separate groups of fish, fasted for 2, 3, and 4 weeks, respectively, plasma leptin levels increase gradually, becoming significantly elevated after 3 weeks, and reaching highest levels after 4-week fasting. Plasma GH levels were significantly elevated after 2-week fasting. At the onset of refeeding, following a single meal, leptin levels decline rapidly to lower than initial levels within 2 h, irrespective of the length of fasting. Plasma GH also decline, the decrease being significant after 4, 24 and 2 h for the 2, 3 and 4-week fasted groups, respectively. This study shows that plasma leptin levels in the fine flounder are strongly linked to nutritional status and suggests that leptin secretion is regulated by fast-acting mechanisms. Elevated leptin levels in fasted fish may contribute to a passive survival strategy of species which experience natural food shortage periods by lowering appetite and limiting physical foraging activity. (C) 2012 Elsevier Inc. All rights reserved.
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| 40. |
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| 41. |
- Green, P. M., et al.
(författare)
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Haemophilia B mutations in a complete Swedish population sample : a test of new strategy for the genetic counselling of diseases with high mutational heterogeneity
- 1991
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Ingår i: British Journal of Haematology. - : Wiley. - 0007-1048 .- 1365-2141. ; 78:3, s. 390-397
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Tidskriftsartikel (refereegranskat)abstract
- Carrier and prenatal diagnosis based on the identification of the gene defect (direct diagnosis) increases the proportion of haemophilia B families that can be offered precise genetic counselling from the 50-60% attainable by DNA markers, to 100%, and they also provide information on the molecular biology of the disease. We propose that in order to maximize the practical and scientific benefits of direct diagnosis the gene defect of complete (possibly national) populations of patients should be characterized and the information stored in appropriate confidential databases. We demonstrate the feasibility of such a strategy by characterizing the mutations of all the patients registered with the Malmo haemophilia centre. These patients (44♂ and 1♀) are from 45 unrelated families and 24 (53%) have negative family history. The 25 patients with similar reduction of factor IX:C and factor IX:Ag (24♂ + 1♀) have: two gross deletions, three frameshifts, four translation stops, six mutations expected to affect pre-mRNA splicing and 10 amino acid substitutions. The six patients with greater reduction of factor IX:C than factor IX:Ag and the seven with reduced IX:C and normal IX:Ag have only amino acid substitutions. Patients with inhibitors have: one complete deletion, one frameshift and three translation stops. One patient has both a translation stop and a functionally neutral amino acid substitution (His257→Tyr). Characterization of the factor IX mutation was successful in every case, usually entailed 4 person-days work, and has led to the identification of 12 amino acid residues essential for the factor IX structure and function.
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| 42. |
- Jakobsson, Lotta, 1967, et al.
(författare)
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Large animal crashes: The significance and challenges
- 2015
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Ingår i: 2015 IRCOBI Conference Proceedings - International Research Council on the Biomechanics of Injury. ; , s. 302-314
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Konferensbidrag (refereegranskat)abstract
- Crashes with large animals pose demands on vehicle design beyond standardised crash test methods. In some parts of the world, crashes with large animals are frequent and involve a relatively high risk of injury. The objective of this study is to identify the significance of the occurrence and the challenges of crashes with large animals, including evaluations using a crash test method simulating a vehicle-to-large animal crash. Statistics identify several important factors, such as impact speed, impact configuration, environmental factors and driver awareness. Occupant injuries of special focus are injuries to head, neck and upper extremities both by penetrating roof structure parts and by interaction with the large animal body, and cuts and scrapes by splintering glass or sharp edges. Tests using a large animal dummy illustrate the importance of structural integrity of the header and A-pillar area, as well as vehicle speed at impact. An increased impact speed not only drives the structural intrusion depth but also influences the timing of head impact towards the deformed area. As a complement to structural and restraint designs, future safety development challenges also include aspects of detecting and sensing large animals addressing occupant protection by mitigating and potentially avoiding the crash.
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| 43. |
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| 44. |
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| 45. |
- Jörnsten, Rebecka, 1971, et al.
(författare)
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Network modeling of the transcriptional effects of copy number aberrations in glioblastoma
- 2011
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Ingår i: Molecular Systems Biology. - : EMBO. - 1744-4292. ; 7
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Tidskriftsartikel (refereegranskat)abstract
- DNA copy number aberrations (CNAs) are a hallmark of cancer genomes. However, little is known about how such changes affect global gene expression. We develop a modeling framework, EPoC (Endogenous Perturbation analysis of Cancer), to (1) detect disease-driving CNAs and their effect on target mRNA expression, and to (2) stratify cancer patients into long- and short-term survivors. Our method constructs causal network models of gene expression by combining genome-wide DNA- and RNA-level data. Prognostic scores are obtained from a singular value decomposition of the networks. By applying EPoC to glioblastoma data from The Cancer Genome Atlas consortium, we demonstrate that the resulting network models contain known disease-relevant hub genes, reveal interesting candidate hubs, and uncover predictors of patient survival. Targeted validations in four glioblastoma cell lines support selected predictions, and implicate the p53-interacting protein Necdin in suppressing glioblastoma cell growth. We conclude that large-scale network modeling of the effects of CNAs on gene expression may provide insights into the biology of human cancer. Free software in MATLAB and R is provided.
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| 46. |
- Kling, Anders, et al.
(författare)
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Genetic variations in the serotonin 5-HT2A receptor gene (HTR2A) are associated with rheumatoid arthritis
- 2008
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Ingår i: Annals of the Rheumatic Diseases. - : BMJ. - 0003-4967 .- 1468-2060. ; 67:8, s. 1111-1115
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVES: To analyse the association between the genetic polymorphisms within the HTR2A gene for the serotonin receptor and rheumatoid arthritis (RA).METHODS: HTR2A gene polymorphisms were analysed in patients with RA and controls from two study populations using PCR based restriction endonuclease mapping or TaqMan allelic discrimination with more than 4000 individuals included in the current study.RESULTS: At the discovery stage we detected significant differences in frequency of rs6313 (T102C polymorphism) between the patients with RA and controls (p = 0.006). Following validation with an extended set of single nucleotide polymorphisms (SNPs) and number of DNA samples, a trend in associations in allelic model for SNPs rs6314, rs1328674, rs6313 and rs6311 (p = 0.006, 0.002, 0.006, 0.009) was seen, although it was lost after correction for multi-comparison for all but rs1328674 (empirical p value = 0.021). However, haplotype frequency analysis based on these four SNPs showed significantly low representation of TCTT combination in patients with RA in comparison with controls (3.6% and 5.6%, p<0.001 on chi(2) test, empirical p = 0.004 after 100 000 permutations) and a significantly higher frequency of CTCC combination in patients with RA in comparison with controls (3.6% and 2.2%, p = 0.002 on chi(2) test, empirical p = 0.022 after 100 000 permutations).CONCLUSIONS: In our study, genetic polymorphisms at the HTR2A gene are associated with susceptibility for RA, suggesting possible links between the serotonergic system and development of the disease.
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| 47. |
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| 48. |
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| 49. |
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| 50. |
- Kling, Teresia, 1985, et al.
(författare)
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Integrative Modeling Reveals Annexin A2-mediated Epigenetic Control of Mesenchymal Glioblastoma
- 2016
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Ingår i: Ebiomedicine. - : Elsevier BV. - 2352-3964. ; 12, s. 72-85
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Tidskriftsartikel (refereegranskat)abstract
- Glioblastomas are characterized by transcriptionally distinct subtypes, but despite possible clinical relevance, their regulation remains poorly understood. The commonly used molecular classification systems for GBM all identify a subtype with high expression of mesenchymal marker transcripts, strongly associated with invasive growth. We used a comprehensive data-driven network modeling technique (augmented sparse inverse covariance selection, aSICS) to define separate genomic, epigenetic, and transcriptional regulators of glioblastoma subtypes. Our model identified Annexin A2 (ANXA2) as a novel methylation-controlled positive regulator of the mesenchymal subtype. Subsequent evaluation in two independent cohorts established ANXA2 expression as a prognostic factor that is dependent on ANXA2 promoter methylation. ANXA2 knockdown in primary glioblastoma stem cell-like cultures suppressed known mesenchymal master regulators, and abrogated cell proliferation and invasion. Our results place ANXA2 at the apex of a regulatory cascade that determines glioblastoma mesenchymal transformation and validate aSICS as a general methodology to uncover regulators of cancer subtypes. (C) 2016 Published by Elsevier B.V. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
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