| 1. |
- Elhai, Muriel, et al.
(författare)
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Mapping and predicting mortality from systemic sclerosis
- 2017
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Ingår i: Annals of the Rheumatic Diseases. - : BMJ. - 0003-4967 .- 1468-2060. ; 76:11, s. 1897-1905
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Tidskriftsartikel (refereegranskat)abstract
- Objectives To determine the causes of death and risk factors in systemic sclerosis (SSc). Methods Between 2000 and 2011, we examined the death certificates of all French patients with SSc to determine causes of death. Then we examined causes of death and developed a score associated with all-cause mortality from the international European Scleroderma Trials and Research (EUSTAR) database. Candidate prognostic factors were tested by Cox proportional hazards regression model by single variable analysis, followed by a multiple variable model stratified by centres. The bootstrapping technique was used for internal validation. Results We identified 2719 French certificates of deaths related to SSc, mainly from cardiac (31%) and respiratory (18%) causes, and an increase in SSc-specific mortality over time. Over a median follow-up of 2.3 years, 1072 (9.6%) of 11 193 patients from the EUSTAR sample died, from cardiac disease in 27% and respiratory causes in 17%. By multiple variable analysis, a risk score was developed, which accurately predicted the 3-year mortality, with an area under the curve of 0.82. The 3-year survival of patients in the upper quartile was 53%, in contrast with 98% in the first quartile. Conclusion Combining two complementary and detailed databases enabled the collection of an unprecedented 3700 deaths, revealing the major contribution of the cardiopulmonary system to SSc mortality. We also developed a robust score to risk-stratify these patients and estimate their 3-year survival. With the emergence of new therapies, these important observations should help caregivers plan and refine the monitoring and management to prolong these patients' survival.
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| 2. |
- Locke, Adam E, et al.
(författare)
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Genetic studies of body mass index yield new insights for obesity biology.
- 2015
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 518:7538, s. 197-401
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Tidskriftsartikel (refereegranskat)abstract
- Obesity is heritable and predisposes to many diseases. To understand the genetic basis of obesity better, here we conduct a genome-wide association study and Metabochip meta-analysis of body mass index (BMI), a measure commonly used to define obesity and assess adiposity, in up to 339,224 individuals. This analysis identifies 97 BMI-associated loci (P < 5 × 10(-8)), 56 of which are novel. Five loci demonstrate clear evidence of several independent association signals, and many loci have significant effects on other metabolic phenotypes. The 97 loci account for ∼2.7% of BMI variation, and genome-wide estimates suggest that common variation accounts for >20% of BMI variation. Pathway analyses provide strong support for a role of the central nervous system in obesity susceptibility and implicate new genes and pathways, including those related to synaptic function, glutamate signalling, insulin secretion/action, energy metabolism, lipid biology and adipogenesis.
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| 3. |
- Lundin, Susanne, et al.
(författare)
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Fieldwork in Grey Zones : A case study on organ trafficking in the Philippines
- 2016
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Ingår i: Global Bodies in Grey Zones : Health, Hope, Bioeconomy - Health, Hope, Bioeconomy. - 9781928357193
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Bokkapitel (refereegranskat)abstract
- In this chapter I present a multi-sited fieldwork set in the Philippines that examines trade in organs from living individuals. The organ commerce generally involves organs harvested from living persons. Since humans have two kidneys and can survive with one, it is primarily kidneys that are transplanted, but also illegally traded. Here, my focus is solely on kidney transplantation. The ambition is to capture some fundamental features of what enables transplants in society's legal and moral outskirts, that is to follow the specific question, in Nordstrom͛s sense (2004:13) about what makes organ trade work as well as what social anthropologists Lawrence Cohen and Nancy Scheper Huges term the ͚Rotten Trade͛ (Cohen and Scheper-Hughes 2009). The method is primarily ethnography, making use of observations and interviews.
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| 4. |
- Muller, Sebastien, 1976, et al.
(författare)
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Detection of CH+, SH+, and their C-13- and S-34-isotopologues toward PKS 1830-211
- 2017
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Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 606
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Tidskriftsartikel (refereegranskat)abstract
- The z = 0.89 molecular absorber toward PKS 1830-211 provides us with the opportunity to probe the chemical and physical properties of the interstellar medium in the disk of a galaxy at a look-back time of half the present age of the Universe. Recent ALMA observations of hydrides have unveiled the multi-phase composition of this source's interstellar medium along two absorbing sightlines. Here, we report ALMA observations of CH+ and SH+, and of their C-13- and S-34-isotopologues, as potential tracers of energetic processes in the interstellar medium. CH+ and (CH+)-C-13 are detected toward both images of PKS 1830-211, CH+ showing the deepest and broadest absorption among all species observed so far. The [CH+]/[(CH+)-C-13] abundance ratio is similar to 100 in the south-west line of sight. This value is larger than any previous [(CX)-C-12]/[(CX)-C-13] ratios determined from other species toward this source and suggests either that the latter might be affected by fractionation or that CH+ might be tracing a different gas component. Toward the north-east image, we find an even larger value of [CH+]/[(CH+)-C-13], 146 +/- 43, although with a large uncertainty. This sightline intercepts the absorber at a larger galactocentric radius than the southwestern one, where material might be less processed in stellar nucleosynthesis. In contrast to CH+ and its C-13 isotopologue, SH+ and (SH+)-S-34 are only detected on the south-west sightline. These are the first detections of extragalactic SH+ and interstellar (SH+)-S-34. The spectroscopic parameters of SH+ are reevaluated and improved rest frequencies of (SH+)-S-34 are obtained. The [CH+]/[SH+] column density ratios show a large difference between the two lines of sight: similar to 25 and > 600 toward the SW and NE image, respectively. We are not able to shed light on the formation process of CH+ and SH+ with these data, but the differences between the two sightlines toward PKS 1830-211 suggest that their absorptions arise from gas with a molecular fraction of greater than or similar to 10%, with SH+ tracing significantly higher molecular fractions than CH+.
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| 5. |
- Muller, Sebastien, 1976, et al.
(författare)
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OH+ and H2O+ absorption toward PKS 1830-211
- 2016
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Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 595, s. A128(1-10)
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Tidskriftsartikel (refereegranskat)abstract
- We report the detection of OH+ and H2O+ in the z = 0.89 absorber toward the lensed quasar PKS 1830-211. The abundance ratio of OH+ and H2O+ is used to quantify the molecular hydrogen fraction (fH2) and the cosmic-ray ionization rate of atomic hydrogen (ζH) along two lines of sight, located at 2 kpc and 4 kpc to either side of the absorber's center. The molecular fraction decreases outward, from 0.04 to 0.02, comparable to values measured in the Milky Way at similar galactocentric radii. For ζH , we find values of 2 × 10-14 s-1 and 3 × 10-15 s-1, respectively, which are slightly higher than in the Milky Way at comparable galactocentric radii, possibly due to a higher average star formation activity in the z = 0.89 absorber. The ALMA observations of OH+, H2O+, and other hydrides toward PKS 1830-211reveal the multi-phase composition of the absorbing gas. Taking the column density ratios along the southwest and northeast lines of sight as a proxy of molecular fraction, we classify the species ArH+, OH+, H2Cl+, H2O+, CH, and HF as tracing gases increasingly more molecular. Incidentally, our data allow us to improve the accuracy of H2O+ rest frequencies and thus refine the spectroscopic parameters.
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| 6. |
- van Rheenen, Wouter, et al.
(författare)
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Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis
- 2016
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 48:9, s. 1043-1048
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Tidskriftsartikel (refereegranskat)abstract
- To elucidate the genetic architecture of amyotrophic lateral sclerosis (ALS) and find associated loci, we assembled a custom imputation reference panel from whole-genome-sequenced patients with ALS and matched controls (n = 1,861). Through imputation and mixed-model association analysis in 12,577 cases and 23,475 controls, combined with 2,579 cases and 2,767 controls in an independent replication cohort, we fine-mapped a new risk locus on chromosome 21 and identified C21orf2 as a gene associated with ALS risk. In addition, we identified MOBP and SCFD1 as new associated risk loci. We established evidence of ALS being a complex genetic trait with a polygenic architecture. Furthermore, we estimated the SNP-based heritability at 8.5%, with a distinct and important role for low-frequency variants (frequency 1-10%). This study motivates the interrogation of larger samples with full genome coverage to identify rare causal variants that underpin ALS risk.
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| 7. |
- Aalto, Susanne, 1964, et al.
(författare)
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A precessing molecular jet signaling an obscured, growing supermassive black hole in NGC 1377?
- 2016
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Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 590, s. Art. no. A73-
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Tidskriftsartikel (refereegranskat)abstract
- With high resolution (0."25 × 0."18) ALMA CO 3-2 (345 GHz) observations of the nearby (D = 21 Mpc, 1" = 102 pc), extremely radio-quiet galaxy NGC 1377, we have discovered a high-velocity, very collimated nuclear outflow which we interpret as a molecular jet with a projected length of ± 150 pc. The launch region is unresolved and lies inside a radius r 40% of the flux in NGC 1377 and may be a slower, wide-angle molecular outflow which is partially entrained by the molecular jet. We discuss the driving mechanism of the molecular jet and suggest that it is either powered by a (faint) radio jet or by an accretion disk-wind similar to those found towards protostars. It seems unlikely that a massive jet could have been driven out by the current level of nuclear activity which should then have undergone rapid quenching. The light jet would only have expelled 10% of the inner gas and may facilitate nuclear activity instead of suppressing it. The nucleus of NGC 1377 harbours intense embedded activity and we detect emission from vibrationally excited HCN J = 4-3?2 = 1f which is consistent with hot gas and dust. We find large columns of H2 in the centre of NGC 1377 which may be a sign of a high rate of recent gas infall. The dynamical age ofthe molecular jet is short (
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| 8. |
- Aalto, Susanne, 1964, et al.
(författare)
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High resolution observations of HCN and HCO+J = 3–2 in the disk and outflow of Mrk 231 -- Detection of vibrationally excited HCN in the warped nucleus
- 2015
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Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 574, s. 85-
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Tidskriftsartikel (refereegranskat)abstract
- Aims. Our goal is to study molecular gas properties in nuclei and large scale outflows/winds from active galactic nuclei (AGNs) and starburst galaxies.Methods. We obtained high resolution (0.̋25 to 0.̋90) observations of HCN and HCO+J = 3 → 2 of the ultraluminous QSO galaxy Mrk 231 with the IRAM Plateau de Bure Interferometer (PdBI).Results. We find luminous HCN and HCO+J = 3 → 2 emission in the main disk and we detect compact (r ≲ 0''̣1 (90 pc)) vibrationally excited HCN J = 3 → 2ν2 = 1f emission centred on the nucleus. The velocity field of the vibrationally excited HCN is strongly inclined (position angle PA = 155°) compared to the east-west rotation of the main disk. The nuclear (r ≲ 0.̋1) molecular mass is estimated to 8 × 108 M⊙ with an average N(H2) of 1.2 × 1024 cm-2. Prominent, spatially extended (≳350 pc) line wings are found for HCN J = 3 → 2 with velocities up to ± 750 km s-1. Line ratios indicate that the emission is emerging in dense gas n = 104−5 × 105 cm-3 of elevated HCN abundance X(HCN) = 10-8−10-6. The highest X(HCN) also allows for the emission to originate in gas of more moderate density. We tentatively detect nuclear emission from the reactive ion HOC+ with HCO+/HOC+ = 10−20.Conclusions. The HCN ν2 = 1f line emission is consistent with the notion of a hot, dusty, warped inner disk of Mrk 231 where the ν2 = 1f line is excited by bright mid-IR 14 μm continuum. We estimate the vibrational temperature Tvib to 200−400 K. Based on relative source sizes we propose that 50% of the main HCN emission may have its excitation affected by the radiation field through IR pumping of the vibrational ground state. The HCN emission in the line wings, however, is more extended and thus likely not strongly affected by IR pumping. Our results reveal that dense clouds survive (and/or are formed) in the AGN outflow on scales of at least several hundred pc before evaporating or collapsing. The elevated HCN abundance in the outflow is consistent with warm chemistry possibly related to shocks and/or X-ray irradiated gas. An upper limit to the mass and momentum flux is 4 × 108 M⊙ and 12LAGN/c, respectively, and we discuss possible driving mechanisms for the dense outflow.
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| 9. |
- Aalto, Susanne, 1964, et al.
(författare)
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Luminous, pc-scale CO 6-5 emission in the obscured nucleus of NGC 1377
- 2017
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Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 608, s. A22-
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Tidskriftsartikel (refereegranskat)abstract
- High-resolution submillimeter line and continuum observations are important in probing the morphology, column density, and dynamics of the molecular gas and dust around obscured active galactic nuclei (AGNs). With high-resolution (0'.06 x 0'.05 (6 x 5 pc)) ALMA 690 GHz observations we have found bright (T-B > 80 K) and compact (full width half maximum size (FWHM) size of 10 x 7 pc) CO 6-5 line emission in the nuclear region of the extremely radio-quiet galaxy NGC 1377. The CO 6-5 intensity is partially aligned with the previously discovered jet/outflow of NGC 1377 and is tracing dense (n > 10(4 )cm(-3)) hot molecular gas at the base of the outflow. The velocity structure is complex and shifts across the jet/outflow are discussed in terms of separate overlapping kinematical components or rotation. High-velocity gas (Delta v +/- 145 km s(-1)) is detected inside r
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| 10. |
- Aalto, Susanne, 1964, et al.
(författare)
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Probing highly obscured, self-absorbed galaxy nuclei with vibrationally excited HCN
- 2015
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Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 584
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Tidskriftsartikel (refereegranskat)abstract
- We present high resolution (0.'' 4) IRAM PdBI and ALMA mm and submm observations of the (ultra) luminous infrared galaxies ((U)LIRGs) IRAS 17208-0014, Arp220, IC 860 and Zw049.057 that reveal intense line emission from vibrationally excited (nu(2) = 1) J = 3-2 and 4-3 HCN. The emission is emerging from buried, compact (r 5 x 10(13) L-circle dot kpc(-2). These nuclei are likely powered by accreting supermassive black holes (SMBHs) and/or hot (>200 K) extreme starbursts. Vibrational, nu(2) = 1, lines of HCN are excited by intense 14 mu m mid-infrared emission and are excellent probes of the dynamics, masses, and physical conditions of (U)LIRG nuclei when H-2 column densities exceed 10(24) cm(-2). It is clear that these lines open up a new interesting avenue to gain access to the most obscured AGNs and starbursts. Vibrationally excited HCN acts as a proxy for the absorbed mid-infrared emission from the embedded nuclei, which allows for reconstruction of the intrinsic, hotter dust SED. In contrast, we show strong evidence that the ground vibrational state (. = 0), J = 3-2 and 4-3 rotational lines of HCN and HCO+ fail to probe the highly enshrouded, compact nuclear regions owing to strong self-and continuum absorption. The HCN and HCO+ line profiles are double-peaked because of the absorption and show evidence of non-circular motions-possibly in the form of in-or outflows. Detections of vibrationally excited HCN in external galaxies are so far limited to ULIRGs and early-type spiral LIRGs, and we discuss possible causes for this. We tentatively suggest that the peak of vibrationally excited HCN emission is connected to a rapid stage of nuclear growth, before the phase of strong feedback.
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