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- Bauer, M., et al.
(författare)
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Variations in seasonal solar insolation are associated with a history of suicide attempts in bipolar I disorder
- 2021
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Ingår i: International Journal of Bipolar Disorders. - : Springer Science and Business Media LLC. - 2194-7511. ; 9:1
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Tidskriftsartikel (refereegranskat)abstract
- Background Bipolar disorder is associated with circadian disruption and a high risk of suicidal behavior. In a previous exploratory study of patients with bipolar I disorder, we found that a history of suicide attempts was associated with differences between winter and summer levels of solar insolation. The purpose of this study was to confirm this finding using international data from 42% more collection sites and 25% more countries. Methods Data analyzed were from 71 prior and new collection sites in 40 countries at a wide range of latitudes. The analysis included 4876 patients with bipolar I disorder, 45% more data than previously analyzed. Of the patients, 1496 (30.7%) had a history of suicide attempt. Solar insolation data, the amount of the sun's electromagnetic energy striking the surface of the earth, was obtained for each onset location (479 locations in 64 countries). Results This analysis confirmed the results of the exploratory study with the same best model and slightly better statistical significance. There was a significant inverse association between a history of suicide attempts and the ratio of mean winter insolation to mean summer insolation (mean winter insolation/mean summer insolation). This ratio is largest near the equator which has little change in solar insolation over the year, and smallest near the poles where the winter insolation is very small compared to the summer insolation. Other variables in the model associated with an increased risk of suicide attempts were a history of alcohol or substance abuse, female gender, and younger birth cohort. The winter/summer insolation ratio was also replaced with the ratio of minimum mean monthly insolation to the maximum mean monthly insolation to accommodate insolation patterns in the tropics, and nearly identical results were found. All estimated coefficients were significant at p < 0.01. Conclusion A large change in solar insolation, both between winter and summer and between the minimum and maximum monthly values, may increase the risk of suicide attempts in bipolar I disorder. With frequent circadian rhythm dysfunction and suicidal behavior in bipolar disorder, greater understanding of the optimal roles of daylight and electric lighting in circadian entrainment is needed.
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- Rodriguez-Palmero, Agusti, et al.
(författare)
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DLG4-related synaptopathy : a new rare brain disorder
- 2021
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Ingår i: Genetics in Medicine. - : Elsevier BV. - 1098-3600 .- 1530-0366. ; 23:5, s. 888-899
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Tidskriftsartikel (refereegranskat)abstract
- PurposePostsynaptic density protein-95 (PSD-95), encoded by DLG4, regulates excitatory synaptic function in the brain. Here we present the clinical and genetic features of 53 patients (42 previously unpublished) with DLG4 variants.MethodsThe clinical and genetic information were collected through GeneMatcher collaboration. All the individuals were investigated by local clinicians and the gene variants were identified by clinical exome/genome sequencing.ResultsThe clinical picture was predominated by early onset global developmental delay, intellectual disability, autism spectrum disorder, and attention deficit–hyperactivity disorder, all of which point to a brain disorder. Marfanoid habitus, which was previously suggested to be a characteristic feature of DLG4-related phenotypes, was found in only nine individuals and despite some overlapping features, a distinct facial dysmorphism could not be established. Of the 45 different DLG4 variants, 39 were predicted to lead to loss of protein function and the majority occurred de novo (four with unknown origin). The six missense variants identified were suggested to lead to structural or functional changes by protein modeling studies.ConclusionThe present study shows that clinical manifestations associated with DLG4 overlap with those found in other neurodevelopmental disorders of synaptic dysfunction; thus, we designate this group of disorders as DLG4-related synaptopathy.
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- El-Hussuna, Alaa, et al.
(författare)
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Patient-Reported Outcome Measures in Colorectal Surgery: Construction of Core Measures Using Open-Source Research Method
- 2021
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Ingår i: Surgical Innovation. - : SAGE PUBLICATIONS INC. - 1553-3506 .- 1553-3514. ; 28:5, s. 560-566
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Tidskriftsartikel (refereegranskat)abstract
- Purpose. The primary aim of the study was to review the existing literature about patient-reported outcome measures (PROMs) in colorectal cancer and IBD. The secondary aim was to present a road map to develop a core outcome set via opinion gathering using social media. Method. This study is the first step of a three-step project aimed at constructing simple, applicable PROMs in colorectal surgery. This article was written in a collaborative manner with authors invited both through Twitter via the #OpenSourceResearch hashtag. The 5 most used PROMs were presented and discussed as slides/images on Twitter. Inputs from a wide spectrum of participants including researchers, surgeons, physicians, nurses, patients, and patients organizations were collected and analyzed. The final draft was emailed to all contributors and 6 patients representatives for proofreading and approval. Results. Five PROM sets were identified and discussed: EORTC QLQ-CR29, IBDQ short health questionnaire, EORTC QLQ-C30, ED-Q5-5L, and Short Form-36. There were 315 tweets posted by 50 tweeters with 1458 retweets. Awareness about PROMs was generally limited. The general psycho-physical well-being score (GPP) was suggested and discussed, and then a survey was conducted in which more than 2/3 of voters agreed that GPP covers the most important aspects in PROMs. Conclusion. Despite the limitations of this exploratory study, it offered a new method to conduct clinical research with opportunity to engage patients. The general psycho-physical well-being score suggested as simple, applicable PROMs to be eventually combined procedure-specific, disease-specific, or symptom-specific PROMs if needed.
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- Heffernan, Liam, et al.
(författare)
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Constraints on potential enzyme activities in thermokarst bogs : Implications for the carbon balance of peatlands following thaw
- 2021
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Ingår i: Global Change Biology. - : John Wiley & Sons. - 1354-1013 .- 1365-2486. ; 27:19, s. 4711-4726
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Tidskriftsartikel (refereegranskat)abstract
- Northern peatlands store a globally significant amount of soil organic carbon, much of it found in rapidly thawing permafrost. Permafrost thaw in peatlands often leads to the development and expansion of thermokarst bogs, where microbial activity will determine the stability of the carbon storage and the release of greenhouse gases. In this study, we compared potential enzyme activities between young (thawed 30 years ago) and mature ( 200 years) thermokarst bogs, for both shallow and deep peat layers. We found very low potential enzyme activities in deep peat layers, with no differences between the young and mature bogs. Peat quality at depth was found to be highly humified (FTIR analysis) in both the young and mature bogs. This suggests that deep, old peat was largely stable following permafrost thaw, without a rapid pulse of decomposition during the young bog stage. For near-surface peat, we found significantly higher potential enzyme activities in the young bog than in the mature—associated with differences in peat quality derived from different Sphagnum species. A laboratory incubation of near-surface peat showed that differences in potential enzyme activity were primarily influenced by peat type rather than oxygen availability. This suggested that the young bog can have higher rates of near-surface decomposition despite being substantially wetter than the mature bog. Overall, our study shows that peat properties are the dominant constraint on potential enzyme activity and that peatland site development (successional pathways and permafrost history) through its influence on peat type and chemistry is likely to determine peat decomposition following permafrost thaw.
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- Jandrić, Petar, et al.
(författare)
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Philosophy of education in a new key : Who remembers Greta Thunberg? Education and environment after the Coronavirus
- 2021
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Ingår i: Educational Philosophy and Theory. - : Informa UK Limited. - 0013-1857 .- 1469-5812. ; 53:14, s. 1421-1441
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Tidskriftsartikel (refereegranskat)abstract
- This paper explores relationships between environment and education after the Covid-19 pandemic through the lens of philosophy of education in a new key developed by Michael Peters and the Philosophy of Education Society of Australasia (PESA). The paper is collectively written by 15 authors who responded to the question: Who remembers Greta Thunberg? Their answers are classified into four main themes and corresponding sections. The first section, ‘As we bake the earth, let's try and bake it from scratch’, gathers wider philosophical considerations about the intersection between environment, education, and the pandemic. The second section, ‘Bump in the road or a catalyst for structural change?’, looks more closely into issues pertaining to education. The third section, ‘If you choose to fail us, we will never forgive you’, focuses to Greta Thunberg’s messages and their responses. The last section, ‘Towards a new (educational) normal’, explores future scenarios and develops recommendations for critical emancipatory action. The concluding part brings these insights together, showing that resulting synergy between the answers offers much more then the sum of articles’ parts. With its ethos of collectivity, interconnectedness, and solidarity, philosophy of education in a new key is a crucial tool for development of post-pandemic (philosophy of) education.
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- MacKenzie, J., et al.
(författare)
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Does pediatric hand transplantation undermine a child's right to an open future?
- 2021
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Ingår i: Journal of Plastic Surgery and Hand Surgery. - : Medical Journals Sweden AB. - 2000-656X .- 2000-6764. ; 55:3, s. 185-189
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Tidskriftsartikel (refereegranskat)abstract
- To date, pediatric hand transplantations have only been performed twice. The ethical issue most often discussed in the literature on this surgery concerns the risks of immunosuppression. While these risks are significant, they can be at least partially mitigated by selecting for patients who are already immunocompromised. Nevertheless, as we will argue, pediatric hand transplantation raises ethical issues that go beyond the risks of immunosuppression. In this paper, we focus on three additional ethical issues: the fact that pediatric hand transplantation aims to improve, rather than save life; the fact that it is an experimental surgery; and the fact that it will be performed on non-autonomous patients whose 'right to an open future' may potentially be undermined by the surgery. Taken together, we think that these considerations suggest that transplantation should be postponed until a child is mature enough to make their own decision about it.
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