| 1. |
- Aamodt, K., et al.
(författare)
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The ALICE experiment at the CERN LHC
- 2008
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Ingår i: Journal of Instrumentation. - 1748-0221. ; 3:S08002
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Forskningsöversikt (refereegranskat)abstract
- ALICE (A Large Ion Collider Experiment) is a general-purpose, heavy-ion detector at the CERN LHC which focuses on QCD, the strong-interaction sector of the Standard Model. It is designed to address the physics of strongly interacting matter and the quark-gluon plasma at extreme values of energy density and temperature in nucleus-nucleus collisions. Besides running with Pb ions, the physics programme includes collisions with lighter ions, lower energy running and dedicated proton-nucleus runs. ALICE will also take data with proton beams at the top LHC energy to collect reference data for the heavy-ion programme and to address several QCD topics for which ALICE is complementary to the other LHC detectors. The ALICE detector has been built by a collaboration including currently over 1000 physicists and engineers from 105 Institutes in 30 countries, Its overall dimensions are 16 x 16 x 26 m(3) with a total weight of approximately 10 000 t. The experiment consists of 18 different detector systems each with its own specific technology choice and design constraints, driven both by the physics requirements and the experimental conditions expected at LHC. The most stringent design constraint is to cope with the extreme particle multiplicity anticipated in central Pb-Pb collisions. The different subsystems were optimized to provide high-momentum resolution as well as excellent Particle Identification (PID) over a broad range in momentum, up to the highest multiplicities predicted for LHC. This will allow for comprehensive studies of hadrons, electrons, muons, and photons produced in the collision of heavy nuclei. Most detector systems are scheduled to be installed and ready for data taking by mid-2008 when the LHC is scheduled to start operation, with the exception of parts of the Photon Spectrometer (PHOS), Transition Radiation Detector (TRD) and Electro Magnetic Calorimeter (EMCal). These detectors will be completed for the high-luminosity ion run expected in 2010. This paper describes in detail the detector components as installed for the first data taking in the summer of 2008.
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| 2. |
- Willer, Cristen J., et al.
(författare)
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Six new loci associated with body mass index highlight a neuronal influence on body weight regulation
- 2009
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 41:1, s. 25-34
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Tidskriftsartikel (refereegranskat)abstract
- Common variants at only two loci, FTO and MC4R, have been reproducibly associated with body mass index (BMI) in humans. To identify additional loci, we conducted meta-analysis of 15 genome-wide association studies for BMI (n > 32,000) and followed up top signals in 14 additional cohorts (n > 59,000). We strongly confirm FTO and MC4R and identify six additional loci (P < 5 x 10(-8)): TMEM18, KCTD15, GNPDA2, SH2B1, MTCH2 and NEGR1 (where a 45-kb deletion polymorphism is a candidate causal variant). Several of the likely causal genes are highly expressed or known to act in the central nervous system (CNS), emphasizing, as in rare monogenic forms of obesity, the role of the CNS in predisposition to obesity.
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| 3. |
- Tuskan, G A, et al.
(författare)
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The genome of black cottonwood, Populus trichocarpa (Torr. & Gray).
- 2006
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Ingår i: Science. - : American Association for the Advancement of Science (AAAS). - 1095-9203 .- 0036-8075. ; 313:5793, s. 1596-604
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Tidskriftsartikel (refereegranskat)abstract
- We report the draft genome of the black cottonwood tree, Populus trichocarpa. Integration of shotgun sequence assembly with genetic mapping enabled chromosome-scale reconstruction of the genome. More than 45,000 putative protein-coding genes were identified. Analysis of the assembled genome revealed a whole-genome duplication event; about 8000 pairs of duplicated genes from that event survived in the Populus genome. A second, older duplication event is indistinguishably coincident with the divergence of the Populus and Arabidopsis lineages. Nucleotide substitution, tandem gene duplication, and gross chromosomal rearrangement appear to proceed substantially more slowly in Populus than in Arabidopsis. Populus has more protein-coding genes than Arabidopsis, ranging on average from 1.4 to 1.6 putative Populus homologs for each Arabidopsis gene. However, the relative frequency of protein domains in the two genomes is similar. Overrepresented exceptions in Populus include genes associated with lignocellulosic wall biosynthesis, meristem development, disease resistance, and metabolite transport.
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| 4. |
- Kim, M.-Y., et al.
(författare)
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Respondent burden and patient-perceived validity of the PDQ-39
- 2006
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Ingår i: Acta Neurologica Scandinavica. - : Wiley-Blackwell. - 0001-6314 .- 1600-0404. ; 113:2, s. 132-137
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVES: To evaluate the respondent burden and patient-perceived content validity of the Parkinson's disease (PD)-specific health status questionnaire PDQ-39, and the linguistic validity of its revised Swedish version.MATERIALS AND METHODS: Eighteen PD patients completed the revised Swedish version of the PDQ-39. Respondent burden was assessed by recording the time taken to complete the questionnaire. Content and linguistic validity was evaluated qualitatively.RESULTS: Patients with mild, moderate and advanced PD needed a mean time of 9.5, 11.3 and 20.1 min, respectively, to complete the PDQ-39. One-third of the patients identified irrelevant items and 50% identified important health-related areas that were missing. Revisions had eliminated previous linguistic problems with the Swedish PDQ-39.CONCLUSIONS: Undue respondent burden challenged the appropriateness of the PDQ-39 among patients with more advanced disease. Overall content validity was acceptable but compromised by lack of important content areas. Observations supported the linguistic validity of the revised Swedish PDQ-39.
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| 5. |
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| 6. |
- Saeed, M, et al.
(författare)
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Age and founder effect of SOD1 A4V mutation causing ALS.
- 2009
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Ingår i: Neurology. - : American Academy of Neurology. - 0028-3878 .- 1526-632X. ; 72:19, s. 1634-1639
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: The alanine to valine mutation at codon 4 (A4V) of SOD1 causes a rapidly progressive dominant form of amyotrophic lateral sclerosis (ALS) with exclusively lower motor neuron disease and is responsible for 50% of SOD1 mutations associated with familial ALS in North America. This mutation is rare in Europe. The authors investigated the origin (geographic and time) of the A4V mutation. METHODS: Several cohorts were genotyped: North American patients with confirmed A4V mutation (n = 54), Swedish (n = 3) and Italian (n = 6) A4V patients, patients with ALS with SOD1 non-A4V mutations (n = 66) and patients with sporadic ALS (n = 96), healthy white (n = 96), African American (n = 17), Chinese (n = 53), Amerindian (n = 11), and Hispanic (n = 12) subjects. High-throughput SNP genotyping was performed using Taqman assay in 384-well format. A novel biallelic CA repeat in exon 5 of SOD1, tightly linked to A4V, was genotyped on sequencing gels. Association statistics were estimated using Haploview. p Values less than 0.05 were considered significant. Age of A4V was estimated using a novel method based on r(2) degeneration with genetic distance and a Bayesian method incorporated in DMLE+. RESULTS: A single haplotype of 10 polymorphisms across a 5.86-cM region was associated with A4V (p = 3.0e-11) when white controls were used, suggesting a founder effect. The strength of association of this haplotype progressively decreased when African American, Chinese, Hispanic, and Amerindian subjects were used as controls. The associated European haplotype was different from the North American haplotype, indicating two founder effects for A4V (Amerindian and European). The estimated age of A4V with the r(2) degeneration method was 458 +/- 59 years (range 398-569) and in agreement with the Bayesian method (554-734 years with 80-90% posterior probability). CONCLUSIONS: North American SOD1 alanine to valine mutation at codon 4 descended from two founders (Amerindian and European) 400-500 years ago.
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| 7. |
- Sieri, S., et al.
(författare)
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Alcohol consumption patterns, diet and body weight in 10 European countries
- 2009
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Ingår i: European Journal of Clinical Nutrition. - : Springer Science and Business Media LLC. - 1476-5640 .- 0954-3007. ; 63:4s, s. 81-100
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Tidskriftsartikel (refereegranskat)abstract
- Background/objectives: Europe has the highest level of alcohol consumption in the world. As drinking patterns are important determinants of the beneficial and harmful effects of alcohol consumption, we investigated alcohol consumption in relation to nutrient intake, place of consumption, education and body weight in a sample of adults from 10 European countries. Methods: A 24-h dietary recall interview was conducted on 13 025 men and 23 009 women, aged 35-74 years, from 27 centres participating in the European Prospective Investigation into Cancer and Nutrition (EPIC) study. Means and standard errors of alcohol consumption, adjusted for age, were calculated, stratified by gender and centre. Results: In many centres, higher level drinkers (males consuming 424 g of ethanol/day, equivalent to 42 standard drinks and females consuming 412 g of ethanol/day equivalent to 41 standard drink) obtained more energy from fat and protein and less from sugar than did abstainers. The proportion of energy from starch tended to be higher for male and lower for female higher level drinkers than for abstainers. Female higher level drinkers had a lower body mass index than did abstainers, whereas male higher level drinkers generally weighed more. Male higher level drinkers were less educated than abstainers in Mediterranean countries, but were more educated elsewhere. Female higher level drinkers were usually more educated than were abstainers. Outside the home, consumption (both genders) tended to be at friends' homes, particularly among men in Northern and Central Europe, and in bars in Spain. Conclusions: This study reveals clear geographical differences in drinking habits across Europe, and shows that the characteristics of different alcohol consumption categories also vary. European Journal of Clinical Nutrition (2009) 63, S81-S100; doi: 10.1038/ejcn.2009.76
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| 8. |
- Stanishev, Vallery, et al.
(författare)
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SN 2003du: 480 days in the life of a normal type Ia supernova
- 2007
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Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 469:2, s. 645-661
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Tidskriftsartikel (refereegranskat)abstract
- Aims.We present a study of the optical and near-infrared (NIR) properties of the Type Ia Supernova (SN Ia) 2003du.Methods: An extensive set of optical and NIR photometry and low-resolution long-slit spectra was obtained using a number of facilities. The observations started 13 days before B-band maximum light and continued for 480 days with exceptionally good time sampling. The optical photometry was calibrated through the S-correction technique.Results: The {UBVRIJHK} light curves and the color indices of SN 2003du closely resemble those of normal SNe Ia. SN 2003du reached a B-band maximum of 13.49 ± 0.02 mag on JD2 452 766.38 ± 0.5. We derive a B-band stretch parameter of 0.988 ±0.003, which corresponds to Δ m15=1.02 ±0.05, indicative of a SN Ia of standard luminosity. The reddening in the host galaxy was estimated by three methods, and was consistently found to be negligible. Using an updated calibration of the V and {JHK} absolute magnitudes of SNe Ia, we find a distance modulus μ=32.79±0.15 mag to the host galaxy, UGC 9391. We measure a peak {uvoir} bolometric luminosity of 1.35(±0.20)×1043 erg s-1 and Arnett's rule implies that M56Ni≃0.68 ±0.14 Mȯ of 56Ni was synthesized during the explosion. Modeling of the {uvoir} bolometric light curve also indicates M56Ni in the range 0.6-0.8 Mȯ. The spectral evolution of SN 2003du at both optical and NIR wavelengths also closely resembles normal SNe Ia. In particular, the Si II ratio at maximum R(Si II) = 0.22 ±0.02 and the time evolution of the blueshift velocities of the absorption line minima are typical. The pre-maximum spectra of SN 2003du showed conspicuous high-velocity features in the Ca II H&K doublet and infrared triplet, and possibly in Si II λ6355, lines. We compare the time evolution of the profiles of these lines with other well-observed SNe Ia and we suggest that the peculiar pre-maximum evolution of Si II λ6355 line in many SNe Ia is due to the presence of two blended absorption components.
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| 9. |
- Stoeber, Gerald, et al.
(författare)
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Schizophrenia: From the brain to peripheral markers. A consensus paper of the WFSBP task force on biological markers
- 2009
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Ingår i: World Journal of Biological Psychiatry. - : Informa UK Limited. - 1562-2975 .- 1814-1412. ; 10:2, s. 127-155
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Forskningsöversikt (refereegranskat)abstract
- Objective. The phenotypic complexity, together with the multifarious nature of the so-called schizophrenic psychoses, limits our ability to form a simple and logical biologically based hypothesis for the disease group. Biological markers are defined as biochemical, physiological or anatomical traits that are specific to particular conditions. An important aim of biomarker discovery is the detection of disease correlates that can be used as diagnostic tools. Method. A selective review of the WFSBP Task Force on Biological Markers in schizophrenia is provided from the central nervous system to phenotypes, functional brain systems, chromosomal loci with potential genetic markers to the peripheral systems. Results. A number of biological measures have been proposed to be correlated with schizophrenia. At present, not a single biological trait in schizophrenia is available which achieves sufficient specificity, selectivity and is based on causal pathology and predictive validity to be recommended as diagnostic marker. Conclusions. With the emergence of new technologies and rigorous phenotypic subclassification the identification of genetic bases and assessment of dynamic disease related alterations will hopefully come to a new stage in the complex field of psychiatric research.
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