| 11. |
- Elmunzer, B. Joseph, et al.
(författare)
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Prolonged Gastrointestinal Manifestations After Recovery From COVID-19
- 2023
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Ingår i: Clinical Gastroenterology and Hepatology. - 1542-3565 .- 1542-7714.
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Tidskriftsartikel (refereegranskat)abstract
- Background & Aims: Acute enteric infections are well known to result in long-term gastrointestinal (GI) disorders. Although COVID-19 is principally a respiratory illness, it demonstrates significant GI tropism, possibly predisposing to prolonged gut manifestations. We aimed to examine the long-term GI impact of hospitalization with COVID-19. Methods: Nested within a large-scale observational cohort study of patients hospitalized with COVID-19 across North America, we performed a follow-up survey of 530 survivors 12–18 months later to assess for persistent GI symptoms and their severity, and for the development of disorders of gut-brain interaction (DGBIs). Eligible patients were identified at the study site level and surveyed electronically. The survey instrument included the Rome IV Diagnostic Questionnaire for DGBI, a rating scale of 24 COVID-related symptoms, the Gastrointestinal Symptoms Rating Scale, and the Impact of Events–Revised trauma symptom questionnaire (a measure of posttraumatic stress associated with the illness experience). A regression analysis was performed to explore the factors associated with GI symptom severity at follow-up. Results: Of the 530 invited patients, 116 responded (52.6% females; mean age, 55.2 years), and 73 of those (60.3%) met criteria for 1 or more Rome IV DGBI at follow-up, higher than the prevalence in the US general population (P <. 0001). Among patients who experienced COVID-related GI symptoms during the index hospitalization (abdominal pain, nausea, vomiting, or diarrhea), 42.1% retained at least 1 of these symptoms at follow-up; in comparison, 89.8% of respondents retained any (GI or non-GI) COVID-related symptom. The number of moderate or severe GI symptoms experienced during the initial COVID-19 illness by self-report correlated with the development of DGBI and severity of GI symptoms at follow-up. Posttraumatic stress disorder (Impact of Events–Revised score ≥33) related to the COVID-19 illness experience was identified in 41.4% of respondents and those individuals had higher DGBI prevalence and GI symptom severity. Regression analysis revealed that higher psychological trauma score (Impact of Events–Revised) was the strongest predictor of GI symptom severity at follow-up. Conclusions: In this follow-up survey of patients 12–18 months after hospitalization with COVID-19, there was a high prevalence of DGBIs and persistent GI symptoms. Prolonged GI manifestations were associated with the severity of GI symptoms during hospitalization and with the degree of psychological trauma related to the illness experience.
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| 12. |
- Fresard, Laure, et al.
(författare)
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Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts
- 2019
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Ingår i: Nature Medicine. - : NATURE PUBLISHING GROUP. - 1078-8956 .- 1546-170X. ; 25:6, s. 911-919
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Tidskriftsartikel (refereegranskat)abstract
- It is estimated that 350 million individuals worldwide suffer from rare diseases, which are predominantly caused by mutation in a single gene(1). The current molecular diagnostic rate is estimated at 50%, with whole-exome sequencing (WES) among the most successful approaches(2-5). For patients in whom WES is uninformative, RNA sequencing (RNA-seq) has shown diagnostic utility in specific tissues and diseases(6-8). This includes muscle biopsies from patients with undiagnosed rare muscle disorders(6,9), and cultured fibroblasts from patients with mitochondrial disorders(7). However, for many individuals, biopsies are not performed for clinical care, and tissues are difficult to access. We sought to assess the utility of RNA-seq from blood as a diagnostic tool for rare diseases of different pathophysiologies. We generated whole-blood RNA-seq from 94 individuals with undiagnosed rare diseases spanning 16 diverse disease categories. We developed a robust approach to compare data from these individuals with large sets of RNA-seq data for controls (n = 1,594 unrelated controls and n = 49 family members) and demonstrated the impacts of expression, splicing, gene and variant filtering strategies on disease gene identification. Across our cohort, we observed that RNA-seq yields a 7.5% diagnostic rate, and an additional 16.7% with improved candidate gene resolution.
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| 13. |
- Gammeltoft-Hansen, Thomas, et al.
(författare)
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Dansk Asylpolitik 1983-2011
- 2011
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Ingår i: Asylbørn: En barndom i undtagelsetilstand.
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Bokkapitel (övrigt vetenskapligt/konstnärligt)
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| 14. |
- Greiner, Justin J., et al.
(författare)
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Factors Associated With Knee Extension Strength Symmetry After Anterior Cruciate Ligament Reconstruction With Quadriceps Tendon Autograft
- 2024
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Ingår i: ORTHOPAEDIC JOURNAL OF SPORTS MEDICINE. - 2325-9671. ; 12:3
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Tidskriftsartikel (refereegranskat)abstract
- Background: Diminished postoperative knee extension strength may occur after anterior cruciate ligament reconstruction (ACLR) with quadriceps tendon (QT) autograft. Factors influencing the restoration of knee extensor strength after ACLR with QT autograft remain undefined. Purpose: To identify factors that influence knee extensor strength after ACLR with QT autograft. Study Design: Case-control study; Level of evidence, 3. Methods: The authors performed a retrospective review of patients who underwent primary ACLR with QT autograft at a single institution between 2010 and 2021. Patients were included if they completed electromechanical dynamometer testing at least 6 months after surgery. Exclusion criteria consisted of revision ACLR, <6 months of follow-up, concomitant procedure (osteotomy, cartilage restoration), and concomitant ligamentous injury requiring surgery. Knee extension limb symmetry index (LSI) was obtained by comparing the peak torque of the operated and nonoperated extremities. Univariable and multivariable analyses were performed to identify factors associated with knee extension LSI in the patient, injury, rehabilitation, and preoperative patient-reported outcomes score domains. Results: A total of 107 patients (58 male; mean age, 22.8 years) were included. Mean knee extension LSI of the overall cohort was 0.82 +/- 0.18 at 7.5 +/- 2.0 months; 35 patients (33%) had a value of >= 0.90. Multivariable analysis demonstrated significant negative associations between knee extension LSI and female sex (-0.12; P < .001), increased age at the time of surgery (-0.01; P = .018), and larger QT graft width (-0.049; P = .053). Conclusion: Factors influencing knee extensor LSI after ACLR with QT autograft in this study population spanned patient and surgical factors, including female sex, older age at the time of surgery, and wider graft harvest. Surgeons should consider the association between these factors and lower postoperative knee extensor LSI to optimize patient outcomes.
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| 15. |
- Guintivano, Jerry, et al.
(författare)
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Meta-Analyses of Genome-Wide Association Studies for Postpartum Depression
- 2023
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Ingår i: American Journal of Psychiatry. - : American Psychiatric Association Publishing. - 0002-953X .- 1535-7228. ; 180:12, s. 884-895
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: Postpartum depression (PPD) is a common subtype of major depressive disorder (MDD) that is more heritable, yet is understudied in psychiatric genetics. The authors conducted meta-analyses of genome-wide association studies (GWASs) to investigate the genetic architecture of PPD.METHOD: Meta-analyses were conducted on 18 cohorts of European ancestry (17,339 PPD cases and 53,426 controls), one cohort of East Asian ancestry (975 cases and 3,780 controls), and one cohort of African ancestry (456 cases and 1,255 controls), totaling 18,770 PPD cases and 58,461 controls. Post-GWAS analyses included 1) single-nucleotide polymorphism (SNP)-based heritability ([Formula: see text]), 2) genetic correlations between PPD and other phenotypes, and 3) enrichment of the PPD GWAS findings in 27 human tissues and 265 cell types from the mouse central and peripheral nervous system.RESULTS: No SNP achieved genome-wide significance in the European or the trans-ancestry meta-analyses. The [Formula: see text] of PPD was 0.14 (SE=0.02). Significant genetic correlations were estimated for PPD with MDD, bipolar disorder, anxiety disorders, posttraumatic stress disorder, insomnia, age at menarche, and polycystic ovary syndrome. Cell-type enrichment analyses implicate inhibitory neurons in the thalamus and cholinergic neurons within septal nuclei of the hypothalamus, a pattern that differs from MDD.CONCLUSIONS: While more samples are needed to reach genome-wide levels of significance, the results presented confirm PPD as a polygenic and heritable phenotype. There is also evidence that despite a high correlation with MDD, PPD may have unique genetic components. Cell enrichment results suggest GABAergic neurons, which converge on a common mechanism with the only medication approved by the U.S. Food and Drug Administration for PPD (brexanolone).
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| 16. |
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| 17. |
- Jacobs, Alan M., et al.
(författare)
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The Qualitative Transparency Deliberations : Insights and Implications
- 2021
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Ingår i: Perspectives on Politics. - 1537-5927 .- 1541-0986. ; 19:1, s. 171-208
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Tidskriftsartikel (refereegranskat)abstract
- In recent years, a variety of efforts have been made in political science to enable, encourage, or require scholars to be more open and explicit about the bases of their empirical claims and, in turn, make those claims more readily evaluable by others. While qualitative scholars have long taken an interest in making their research open, reflexive, and systematic, the recent push for overarching transparency norms and requirements has provoked serious concern within qualitative research communities and raised fundamental questions about the meaning, value, costs, and intellectual relevance of transparency for qualitative inquiry. In this Perspectives Reflection, we crystallize the central findings of a three-year deliberative process-the Qualitative Transparency Deliberations (QTD)-involving hundreds of political scientists in a broad discussion of these issues. Following an overview of the process and the key insights that emerged, we present summaries of the QTD Working Groups' final reports. Drawing on a series of public, online conversations that unfolded at www.qualtd.net, the reports unpack transparency's promise, practicalities, risks, and limitations in relation to different qualitative methodologies, forms of evidence, and research contexts. Taken as a whole, these reports-the full versions of which can be found in the Supplementary Materials-offer practical guidance to scholars designing and implementing qualitative research, and to editors, reviewers, and funders seeking to develop criteria of evaluation that are appropriate-as understood by relevant research communities-to the forms of inquiry being assessed. We dedicate this Reflection to the memory of our coauthor and QTD working group leader Kendra Koivu.(1)
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| 18. |
- Kaarre, Janina, et al.
(författare)
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Strength symmetry after autograft anterior cruciate ligament reconstruction.
- 2023
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Ingår i: Journal of ISAKOS : joint disorders & orthopaedic sports medicine. - 2059-7762.
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Tidskriftsartikel (refereegranskat)abstract
- To compare postoperative isometric quadriceps strength indices (QI%) and hamstring strength limb symmetry indices (HI%) between partial thickness quadriceps tendon (pQT), full thickness quadriceps tendon (fQT), and bone-patellar-tendon bone (BPTB) autograft anterior cruciate ligament reconstruction (ACLR).Patients with primary ACLR with pQT, fQT, or BPTB autograft with the documentation of quantitative postoperative strength assessments between 2016 and 2021 were included. Isometric Biodex data, including QI% and HI% (calculated as the percentage of involved to uninvolved limb strength) were collected between 5 and 8 months and between 9 and 15 months postoperatively.In total, 124 and 51 patients had 5-8- and 9-15-month follow-up strength data, respectively. No significant difference was detected between groups for sex. However, patients undergoing fQT were found to be older than those undergoing BPTB (24.6±7 vs 20.2±5; p = 0.01). There were no significant differences in the number of concomitant meniscus repairs between the groups (pQT vs. fQT vs. BPTB). No significant differences were detected in median (min-max) QI% between pQT, fQT, and BPTB 5-8 months [87 % (44%-130 %), 84 % (44%-110 %), 82 % (37%-110 %) or 9-15 months [89 % (50%-110 %), 89 % (67%-110 %), and 90 % (74%-140 %)] postoperatively. Similarly, no differences were detected in median HI% between the groups 5-8 months or 9-15 months postoperatively.The study was unable to detect differences in the recovery of quadriceps strength between patients undergoing ACLR with pQT, fQT, and BPTB autografts at 5-8 months and 9-15-months postoperatively.III.
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| 19. |
- Kendall, Liam K, et al.
(författare)
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The potential and realized foraging movements of bees are differentially determined by body size and sociality
- 2022
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Ingår i: Ecology. - : Wiley. - 0012-9658 .- 1939-9170. ; 103:11
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Tidskriftsartikel (refereegranskat)abstract
- Reversing biodiversity declines requires a better understanding of organismal mobility, as movement processes dictate the scale at which species interact with the environment. Previous studies have demonstrated that species foraging ranges, and therefore, habitat use increases with body size. Yet, foraging ranges are also affected by other life-history traits, such as sociality, which influence the need of and ability to detect resources. We evaluated the effect of body size and sociality on potential and realized foraging ranges using a compiled dataset of 383 measurements for 81 bee species. Potential ranges were larger than realized ranges and increased more steeply with body size. Highly eusocial species had larger realized foraging ranges than primitively eusocial or solitary taxa. We contend that potential ranges describe species movement capabilities, whereas realized ranges depict how foraging movements result from interactions between species traits and environmental conditions. Furthermore, the complex communication strategies and large colony sizes in highly eusocial species may facilitate foraging over wider areas in response to resource depletion. Our findings should contribute to a greater understanding of landscape ecology and conservation, as traits that influence movement mediate species vulnerability to habitat loss and fragmentation.
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| 20. |
- Kisgeropoulos, Effie C., et al.
(författare)
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Key Structural Motifs Balance Metal Binding and Oxidative Reactivity in a Heterobimetallic Mn/Fe Protein
- 2020
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Ingår i: Journal of the American Chemical Society. - : American Chemical Society (ACS). - 0002-7863 .- 1520-5126. ; 142:11, s. 5338-5354
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Tidskriftsartikel (refereegranskat)abstract
- Heterobimetallic Mn/Fe proteins represent a new cofactor paradigm in bioinorganic chemistry and pose countless outstanding questions. The assembly of the active site defies common chemical convention by contradicting the Irving-Williams series, while the scope of reactivity remains unexplored. In this work, the assembly and C-H bond activation process in the Mn/Fe R2-like ligand-binding oxidase (R2lox) protein is investigated using a suite of biophysical techniques, including time-resolved optical spectroscopy, global kinetic modeling, X-ray crystallography, electron paramagnetic resonance spectroscopy, protein electrochemistry, and mass spectrometry. Selective metal binding is found to be under thermodynamic control, with the binding sites within the apoprotein exhibiting greater Mn-II affinity than Fe-II affinity. The comprehensive analysis of structure and reactivity of wild-type R2lox and targeted primary and secondary sphere mutants indicate that the efficiency of C-H bond activation directly correlates with the Mn/Fe cofactor reduction potentials and is inversely related to divalent metal binding affinity. These findings suggest the R2lox active site is precisely tuned for achieving both selective heterobimetallic binding and high levels of reactivity and offer a mechanism to examine the means by which proteins achieve appropriate metal incorporation.
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