| 1. |
- Elks, Cathy E, et al.
(författare)
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Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies
- 2010
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 42:12, s. 1077-85
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Tidskriftsartikel (refereegranskat)abstract
- To identify loci for age at menarche, we performed a meta-analysis of 32 genome-wide association studies in 87,802 women of European descent, with replication in up to 14,731 women. In addition to the known loci at LIN28B (P = 5.4 × 10⁻⁶⁰) and 9q31.2 (P = 2.2 × 10⁻³³), we identified 30 new menarche loci (all P < 5 × 10⁻⁸) and found suggestive evidence for a further 10 loci (P < 1.9 × 10⁻⁶). The new loci included four previously associated with body mass index (in or near FTO, SEC16B, TRA2B and TMEM18), three in or near other genes implicated in energy homeostasis (BSX, CRTC1 and MCHR2) and three in or near genes implicated in hormonal regulation (INHBA, PCSK2 and RXRG). Ingenuity and gene-set enrichment pathway analyses identified coenzyme A and fatty acid biosynthesis as biological processes related to menarche timing.
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| 2. |
- Chiang, Cho-Han, et al.
(författare)
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Performance of the European Society of Cardiology 0/1-Hour, 0/2-Hour, and 0/3-Hour Algorithms for Rapid Triage of Acute Myocardial Infarction : An International Collaborative Meta-analysis
- 2022
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Ingår i: Annals of Internal Medicine. - 0003-4819. ; 175:1, s. 101-113
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Forskningsöversikt (refereegranskat)abstract
- BACKGROUND: The 2020 European Society of Cardiology (ESC) guidelines recommend using the 0/1-hour and 0/2-hour algorithms over the 0/3-hour algorithm as the first and second choices of high-sensitivity cardiac troponin (hs-cTn)-based strategies for triage of patients with suspected acute myocardial infarction (AMI).PURPOSE: To evaluate the diagnostic accuracies of the ESC 0/1-hour, 0/2-hour, and 0/3-hour algorithms.DATA SOURCES: PubMed, Embase, Cochrane Central Register of Controlled Trials, Web of Science, and Scopus from 1 January 2011 to 31 December 2020. (PROSPERO: CRD42020216479).STUDY SELECTION: Prospective studies that evaluated the ESC 0/1-hour, 0/2-hour, or 0/3-hour algorithms in adult patients presenting with suspected AMI.DATA EXTRACTION: The primary outcome was index AMI. Twenty unique cohorts were identified. Primary data were obtained from investigators of 16 cohorts and aggregate data were extracted from 4 cohorts. Two independent authors assessed each study for methodological quality.DATA SYNTHESIS: A total of 32 studies (20 cohorts) with 30 066 patients were analyzed. The 0/1-hour algorithm had a pooled sensitivity of 99.1% (95% CI, 98.5% to 99.5%) and negative predictive value (NPV) of 99.8% (CI, 99.6% to 99.9%) for ruling out AMI. The 0/2-hour algorithm had a pooled sensitivity of 98.6% (CI, 97.2% to 99.3%) and NPV of 99.6% (CI, 99.4% to 99.8%). The 0/3-hour algorithm had a pooled sensitivity of 93.7% (CI, 87.4% to 97.0%) and NPV of 98.7% (CI, 97.7% to 99.3%). Sensitivity of the 0/3-hour algorithm was attenuated in studies that did not use clinical criteria (GRACE score <140 and pain-free) compared with studies that used clinical criteria (90.2% [CI, 82.9 to 94.6] vs. 98.4% [CI, 88.6 to 99.8]). All 3 algorithms had similar specificities and positive predictive values for ruling in AMI, but heterogeneity across studies was substantial. Diagnostic performance was similar across the hs-cTnT (Elecsys; Roche), hs-cTnI (Architect; Abbott), and hs-cTnI (Centaur/Atellica; Siemens) assays.LIMITATION: Diagnostic accuracy, inclusion and exclusion criteria, and cardiac troponin sampling time varied among studies.CONCLUSION: The ESC 0/1-hour and 0/2-hour algorithms have higher sensitivities and NPVs than the 0/3-hour algorithm for index AMI.PRIMARY FUNDING SOURCE: National Taiwan University Hospital.
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| 3. |
- Debnath, Kumar Biswajit, et al.
(författare)
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A Mixed-Methods Approach for Evaluating the Influence of Residential Practices for Thermal Comfort on Electricity Consumption in Auroville, India
- 2024
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Ingår i: Electricity. - 2673-4826. ; 5:1, s. 112-133
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Tidskriftsartikel (refereegranskat)abstract
- With rapid global economic growth and a rise in disposable household income, particularly within a progressively warming planet, the escalating demand for energy to achieve thermal comfort has become a salient concern in the Global South, notably in emerging economies like India. This burgeoning need for cooling solutions has not only underscored the vital role of energy consumption but has also accentuated the imperative of comprehending the ensuing implications for electricity policy and strategic planning, particularly within the ambit of the Global South. This study explored the nuanced landscape of active cooling within an intentional community, Auroville, in southern India, aiming to discern the factors underpinning household preferences and practices in the pursuit of thermal comfort. Employing a mixed-methods approach, this study contributed empirically and methodologically to the interdisciplinary discourse by analysing residential electricity consumption patterns and cooling practices within selected households in the specified community. The study unfolded in three methodological stages: firstly, an analysis of climatic data coupled with an environmental stress index (ESI) assessment; secondly, the monitoring of end-user electricity consumption followed by rigorous data analysis; and lastly, the utilisation of qualitative in-depth interviews and observational techniques. This study’s outcome yielded empirical insights into the unprecedented shifts in the ESI for Auroville since 2014. Furthermore, the study unravelled the intricate complexities inherent in occupant behaviour within residential structures, thereby offering valuable insights into the practices that shape householders’ cooling preferences. This research enriched the understanding of the dynamics of energy consumption in the pursuit of thermal comfort and contributes to the broader discourse on sustainable development and energy policy in the context of climate change.
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| 4. |
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| 5. |
- Estrada, Karol, et al.
(författare)
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Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
- 2012
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Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 44:5, s. 491-501
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Tidskriftsartikel (refereegranskat)abstract
- Bone mineral density (BMD) is the most widely used predictor of fracture risk. We performed the largest meta-analysis to date on lumbar spine and femoral neck BMD, including 17 genome-wide association studies and 32,961 individuals of European and east Asian ancestry. We tested the top BMD-associated markers for replication in 50,933 independent subjects and for association with risk of low-trauma fracture in 31,016 individuals with a history of fracture (cases) and 102,444 controls. We identified 56 loci (32 new) associated with BMD at genome-wide significance (P < 5 × 10(-8)). Several of these factors cluster within the RANK-RANKL-OPG, mesenchymal stem cell differentiation, endochondral ossification and Wnt signaling pathways. However, we also discovered loci that were localized to genes not known to have a role in bone biology. Fourteen BMD-associated loci were also associated with fracture risk (P < 5 × 10(-4), Bonferroni corrected), of which six reached P < 5 × 10(-8), including at 18p11.21 (FAM210A), 7q21.3 (SLC25A13), 11q13.2 (LRP5), 4q22.1 (MEPE), 2p16.2 (SPTBN1) and 10q21.1 (DKK1). These findings shed light on the genetic architecture and pathophysiological mechanisms underlying BMD variation and fracture susceptibility.
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| 6. |
- Gaccioli, Francesca, et al.
(författare)
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Fetal inheritance of chromosomally integrated human herpesvirus 6 predisposes the mother to pre-eclampsia
- 2020
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Ingår i: Nature Microbiology. - : Springer Nature. - 2058-5276. ; 5:7, s. 901-908
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Tidskriftsartikel (refereegranskat)abstract
- Pre-eclampsia (typically characterized by new-onset hypertension and proteinuria in the second half of pregnancy) represents a major determinant of the global burden of disease1,2. Its pathophysiology involves placental dysfunction, but the mechanism is unclear. Viral infection can cause organ dysfunction, but its role in placentally related disorders of human pregnancy is unknown3. We addressed this using RNA sequencing metagenomics4-6 of placental samples from normal and complicated pregnancies. Here, we show that human herpesvirus 6 (HHV-6, A or B) RNA was detected in 6.1% of cases of pre-eclampsia and 2.2% of other pregnancies. Fetal genotyping demonstrated that 70% of samples with HHV-6 RNA in the placenta exhibited inherited, chromosomally integrated HHV-6 (iciHHV-6). We genotyped 467 pre-eclampsia cases and 3,854 controls and found an excess of iciHHV-6 in the cases (odds ratio of 2.8, 95% confidence intervals of 1.4-5.6, P = 0.008). We validated this finding by comparing iciHHV-6 in a further 740 cases with controls from large-scale population studies (odds ratio of 2.5, 95% confidence intervals of 1.4-4.4, P = 0.0013). We conclude that iciHHV-6 results in the transcription of viral RNA in the human placenta and predisposes the mother to pre-eclampsia.
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| 7. |
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| 8. |
- Galiè, Nazzareno, et al.
(författare)
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Initial Use of Ambrisentan plus Tadalafil in Pulmonary Arterial Hypertension
- 2015
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Ingår i: New England Journal of Medicine. - 0028-4793 .- 1533-4406. ; 373:9
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Data on the effect of initial combination therapy with ambrisentan and tadalafil on long-term outcomes in patients with pulmonary arterial hypertension are scarce.METHODS: In this event-driven, double-blind study, we randomly assigned, in a 2:1:1 ratio, participants with World Health Organization functional class II or III symptoms of pulmonary arterial hypertension who had not previously received treatment to receive initial combination therapy with 10 mg of ambrisentan plus 40 mg of tadalafil (combination-therapy group), 10 mg of ambrisentan plus placebo (ambrisentan-monotherapy group), or 40 mg of tadalafil plus placebo (tadalafil-monotherapy group), all administered once daily. The primary end point in a time-to-event analysis was the first event of clinical failure, which was defined as the first occurrence of a composite of death, hospitalization for worsening pulmonary arterial hypertension, disease progression, or unsatisfactory long-term clinical response.RESULTS: The primary analysis included 500 participants; 253 were assigned to the combination-therapy group, 126 to the ambrisentan-monotherapy group, and 121 to the tadalafil-monotherapy group. A primary end-point event occurred in 18%, 34%, and 28% of the participants in these groups, respectively, and in 31% of the pooled-monotherapy group (the two monotherapy groups combined). The hazard ratio for the primary end point in the combination-therapy group versus the pooled-monotherapy group was 0.50 (95% confidence interval [CI], 0.35 to 0.72; P<0.001). At week 24, the combination-therapy group had greater reductions from baseline in N-terminal pro-brain natriuretic peptide levels than did the pooled-monotherapy group (mean change, -67.2% vs. -50.4%; P<0.001), as well as a higher percentage of patients with a satisfactory clinical response (39% vs. 29%; odds ratio, 1.56 [95% CI, 1.05 to 2.32]; P=0.03) and a greater improvement in the 6-minute walk distance (median change from baseline, 48.98 m vs. 23.80 m; P<0.001). The adverse events that occurred more frequently in the combination-therapy group than in either monotherapy group included peripheral edema, headache, nasal congestion, and anemia.CONCLUSIONS: Among participants with pulmonary arterial hypertension who had not received previous treatment, initial combination therapy with ambrisentan and tadalafil resulted in a significantly lower risk of clinical-failure events than the risk with ambrisentan or tadalafil monotherapy. (Funded by Gilead Sciences and GlaxoSmithKline; AMBITION ClinicalTrials.gov number, NCT01178073.).
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| 9. |
- Martinez, Arturo O., et al.
(författare)
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Stellar and Planetary Parameters for K2's Late-type Dwarf Systems from C1 to C5
- 2017
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Ingår i: Astrophysical Journal. - : American Astronomical Society. - 0004-637X .- 1538-4357. ; 837:1
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Tidskriftsartikel (refereegranskat)abstract
- The NASA K2 mission uses photometry to find planets transiting stars of various types. M dwarfs are of high interest since they host more short-period planets than any other type of main-sequence star and transiting planets around M dwarfs have deeper transits compared to other main-sequence stars. In this paper, we present stellar parameters from K and M dwarfs hosting transiting planet candidates discovered by our team. Using the SOFI spectrograph on the European Southern Observatory's New Technology Telescope, we obtained R approximate to 1000 J-, H-, and K-band (0.95-2.52 mu m) spectra of 34 late-type K2 planet and candidate planet host systems and 12 bright K4-M5 dwarfs with interferometrically measured radii and effective temperatures. Out of our 34 late-type K2 targets, we identify 27 of these stars as M dwarfs. We measure equivalent widths of spectral features, derive calibration relations using stars with interferometric measurements, and estimate stellar radii, effective temperatures, masses, and luminosities for the K2 planet hosts. Our calibrations provide radii and temperatures with median uncertainties of 0.059 R-circle dot (16.09%) and 160 K (4.33%), respectively. We then reassess the radii and equilibrium temperatures of known and candidate planets based on our spectroscopically derived stellar parameters. Since a planet's radius and equilibrium temperature depend on the parameters of its host star, our study provides more precise planetary parameters for planets and candidates orbiting late-type stars observed with K2. We find a median planet radius and an equilibrium temperature of approximately 3 R-circle plus and 500 K, respectively, with several systems (K2-18b and K2-72e) receiving near-Earth-like levels of incident irradiation.
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| 10. |
- Osunmuyiwa, Olufolahan, 1991, et al.
(författare)
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What matters? Unlocking householders’ flexibility towards cooling automation in India
- 2023
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Ingår i: Environmental Innovation and Societal Transitions. - : Elsevier BV. - 2210-4224. ; 47
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Tidskriftsartikel (refereegranskat)abstract
- In emerging economies like India, where air conditioners are projected to triple by 2050 — mostly from household use — demand response programs such as cooling automation have gained currency as a suitable approach to address peak electricity from cooling demand. Environmentally commoning/intentional communities are classic contexts in which flexible cooling consumption might be easily realised. Utilising materialist theory and a six-month cooling automation trial and workshops with twenty households in an intentional community in South India, this study explores factors that shape householders’ pliability or rejection of cooling automation. Results reveal that while commoning identity plays a significant role in householders' flexibility towards automation, extreme heat creates a clash between householders' environmental beliefs and comfort needs, altering their response to automation. We conclude by discussing the theoretical implications arising from these findings and suggest how utilities could respond to these dynamics to foster a transition to a low-carbon energy system.
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