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- Gehlen, J., et al.
(författare)
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First genome-wide association study of esophageal atresia identifies three genetic risk loci at CTNNA3, FOXF1/FOXC2/FOXL1, and HNF1B
- 2022
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Ingår i: Human Genetics and Genomics Advances. - : Elsevier BV. - 2666-2477. ; 3:2
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Tidskriftsartikel (refereegranskat)abstract
- Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) is the most common congenital malformation of the upper digestive tract. This study represents the first genome-wide association study (GWAS) to identify risk loci for EA/TEF. We used a European case-control sample comprising 764 EA/TEF patients and 5,778 controls and observed genome-wide significant associations at three loci. On chromosome 10q21 within the gene CTNNA3 (p = 2.11 × 10−8; odds ratio [OR] = 3.94; 95% confidence interval [CI], 3.10–5.00), on chromosome 16q24 next to the FOX gene cluster (p = 2.25 × 10−10; OR = 1.47; 95% CI, 1.38–1.55) and on chromosome 17q12 next to the gene HNF1B (p = 3.35 × 10−16; OR = 1.75; 95% CI, 1.64–1.87). We next carried out an esophageal/tracheal transcriptome profiling in rat embryos at four selected embryonic time points. Based on these data and on already published data, the implicated genes at all three GWAS loci are promising candidates for EA/TEF development. We also analyzed the genetic EA/TEF architecture beyond the single marker level, which revealed an estimated single-nucleotide polymorphism (SNP)-based heritability of around 37% ± 14% standard deviation. In addition, we examined the polygenicity of EA/TEF and found that EA/TEF is less polygenic than other complex genetic diseases. In conclusion, the results of our study contribute to a better understanding on the underlying genetic architecture of ET/TEF with the identification of three risk loci and candidate genes. © 2022 The Authors
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| 2. |
- Adamczewski-Musch, J., et al.
(författare)
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Production and electromagnetic decay of hyperons : a feasibility study with HADES as a phase-0 experiment at FAIR
- 2021
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Ingår i: European Physical Journal A. - : Springer Nature. - 1434-6001 .- 1434-601X. ; 57:4
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Tidskriftsartikel (refereegranskat)abstract
- A feasibility study has been performed in order to investigate the performance of the HADES detector to measure the electromagnetic decays of the hyperon resonances Sigma(1385)(0), Lambda(1405) and Lambda(1520) as well as the production of double strange baryon systems Xi(-) and Lambda Lambda in p + p reactions at a beam kinetic energy of 4.5GeV. The existing HADES detector will be upgraded by a new Forward Detector, which extends the detector acceptance into a range of polar angles that plays a crucial role for these investigations. The analysis of each channel is preceded by a consideration of the production cross-sections. Afterwards the expected signal count rates using a target consisting of either liquid hydrogen or polyethylene are summarized.
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| 3. |
- Sumaila, U. Rashid, et al.
(författare)
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WTO must ban harmful fisheries subsidies
- 2021
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Ingår i: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 374:6567, s. 544-544
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
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| 4. |
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| 5. |
- Schick-Makaroff, K., et al.
(författare)
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Electronic patient-reported outcomes in clinical kidney practice (ePRO Kidney): a process evaluation of educational support for clinicians
- 2023
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Ingår i: Therapeutic Advances in Chronic Disease. - 2040-6223. ; 14
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Tidskriftsartikel (refereegranskat)abstract
- Background: Patient-reported outcomes (PROs) are increasingly mandated in kidney care to incorporate patients' perspectives.Objectives: We assessed whether educational support for clinicians using electronic (e)PROs could enhance person-centered care. Design: A process evaluation, using a mixed methods longitudinal comparative concurrent design was undertaken of educational support to clinicians on routine use of ePROs. In two urban home dialysis clinics in Alberta, Canada, patients completed ePROs. At the implementation site, clinicians were provided with ePROs and clinician-oriented education via voluntary workshops. At the non-implementation site, neither were provided. Person-centered care was measured using the Patient Assessment of Chronic Illness Care-20 (PACIC-20).Methods: Longitudinal structural equation models (SEMs) compared change in overall PACIC scores. The interpretive description approach, using thematic analysis of qualitative data, further evaluated processes of implementation.Results: Data were collected from questionnaires completed by 543 patients, 4 workshops, 15 focus groups, and 37 interviews. There was no overall difference in person-centered care throughout the study, including after delivery of workshops. The longitudinal SEMs revealed substantial individual-level variability in overall PACIC trajectories. However, there was no improvement at the implementation site and no difference between the sites during both the pre-and post-workshop periods. Similar results were obtained for each PACIC domain. Qualitative analysis provided insights into why there was no substantial difference between sites: (1) clinicians wanted to see kidney symptoms, not quality of life, (2) workshops were tailored to clinicians' educational needs, not patients' needs, and (3) variable use of ePRO data by clinicians.Conclusion: Training clinicians on use of ePROs is complex and likely only part of what is required to enhance person-centered care.
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