bluuebunny/crossref_metadata_2025_split huggingface dataset:
Respiratory onset of amyotrophic lateral sclerosis in a pregnant woman with a novel SOD1 mutation
Authors: Masrori Pegah , Ospitalieri Simona , Forsberg Karin , Moens Thomas G. , Poesen Koen , Race Valerie , Brännström Thomas , Andersen Peter M. , Thal Dietmar R. , Van Damme Philip 
Published: March 2022

AbstractBackground and purposeWith the advent of gene therapies for amyotrophic lateral sclerosis (ALS), the importance of gene testing in ALS is increasing. This will likely lead to the identification of new variants for which the pathogenicity is not established. We aimed to study the pathogenicity of a newly identified variant in superoxide dismutase 1 (SOD1).MethodsGene testing was performed using Sanger sequencing. SOD1 activity in erythrocytes was measured using spectrophotometry. Postmortem brain and spinal cord sections were stained with antibodies against phospho‐TDP‐43 and SOD1.ResultsWe identified a novel c.416G>T (p.Gly139Val) mutation in SOD1, which caused a rapidly progressive respiratory onset form of ALS. The mutation resulted in a 50% drop of SOD1 activity. Postmortem examination confirmed the absence of TDP‐43 pathology and displayed typical SOD1 inclusions in remaining motor neurons, confirming the pathogenic nature of the mutation.ConclusionsNovel variants of unknown pathogenicity will be identified as a result of a surge in gene testing in people with ALS. An in‐depth study of a newly identified p.Gly139Val mutation in SOD1 confirmed the pathogenicity of this mutation. Future patients with this particular mutation should qualify for SOD1 silencing or editing therapies.
RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia
Authors: Beijer Danique , Dohrn Maike F. , De Winter Jonathan , Fazal Sarah , Cortese Andrea , Stojkovic Tanya , Fernández‐Eulate Gorka , Remiche Gauthier , Gentile Mattia , Van Coster Rudy , Dufke Claudia , Synofzik Matthis , De Jonghe Peter , Züchner Stephan , Baets Jonathan 
Published: March 2022

AbstractBackground and purposeAtaxia and cough are rare features in hereditary sensory and autonomic neuropathies (HSAN), a group of diseases of mostly unknown genetic cause. Biallelic repeat expansions in RFC1 are associated with cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS). This study aimed to investigate the prevalence of RFC1 repeat expansions in a cohort of HSAN patients.MethodsAfter unremarkable whole‐exome sequencing (WES) analysis, we performed repeat‐primed PCR to detect intronic RFC1 expansions in 12 HSAN families, who all presented with chronic cough.ResultsIn these patients, 75% carried biallelic expansions of the pathogenic AAGGG motif. Compared with RFC1−/− cases, RFC1+/+ cases presented more consistently with positive sensory and autonomic symptoms. Afferent ataxia was more severe in the RFC1+/+ cohort and cerebellar ataxia was a common feature (21%).ConclusionsWe demonstrate that RFC1 is a frequent cause of (WES‐negative) HSAN with chronic cough and ataxia. The diagnostic yield of RFC1 repeat‐primed PCR was surprisingly high, given that HSAN is genetically poorly understood. This combination of HSAN, ataxia, and chronic cough symptoms represents a new nosological entity within the neuropathy‐ataxia spectrum.
Successive extreme climatic events lead to immediate, large‐scale, and diverse responses from fish in the Arctic
Authors: Husson Bérengère , Lind Sigrid , Fossheim Maria , Kato‐Solvang Hiroko , Skern‐Mauritzen Mette , Pécuchet Laurène , Ingvaldsen Randi B. , Dolgov Andrey V. , Primicerio Raul 
Published: March 2022

AbstractThe warming trend of the Arctic is punctuated by several record‐breaking warm years with very low sea ice concentrations. The nature and reversibility of marine ecosystem responses to these multiple extreme climatic events (ECEs) are poorly understood. Here, we investigate the ecological signatures of three successive bottom temperature maxima concomitant with surface ECEs between 2004 and 2017 in the Barents Sea across spatial and organizational scales. We observed community‐level redistributions of fish concurrent with ECEs at the scale of the whole Barents Sea. Three groups, characterized by different sets of traits describing their capacity to cope with short‐term perturbations, reacted with different timing and intensity to each ECE. Arctic species co‐occurred more frequently with large predators and incoming boreal taxa during ECEs, potentially affecting food web structures and functional diversity, accelerating the impacts of long‐term climate change. On the species level, responses were highly diversified, with different ECEs impacting different species, and species responses (expansion, geographical shift) varying from one ECE to another, despite the environmental perturbations being similar. Past ECEs impacts, with potential legacy effects, lagged responses, thresholds, and interactions with the underlying warming pressure, could constantly set up new initial conditions that drive the unique ecological signature of each ECE. These results highlight the complexity of ecological reactions to multiple ECEs and give prominence to several sources of process uncertainty in the predictions of climate change impact and risk for ecosystem management. Long‐term monitoring and studies to characterize the vertical extent of each ECE are necessary to statistically link demersal species and environmental spatial–temporal patterns. In the future, regular monitoring will be crucial to detect early signals of change and understand the determinism of ECEs, but we need to adapt our models and management to better integrate risk and stochasticity from the complex impacts of global change.
Decipher soil organic carbon dynamics and driving forces across China using machine learning
Authors: Li Huiwen , Wu Yiping , Liu Shuguang , Xiao Jingfeng , Zhao Wenzhi , Chen Ji , Alexandrov Georgii , Cao Yue 
Published: March 2022

AbstractThe dynamics of soil organic carbon (SOC) play a critical role in modulating global warming. However, the long‐term spatiotemporal changes of SOC at large scale, and the impacts of driving forces remain unclear. In this study, we investigated the dynamics of SOC in different soil layers across China through the1980s to 2010s using a machine learning approach and quantified the impacts of the key factors based on factorial simulation experiments.Our results showed that the latest (2000–2014) SOC stock in the first meter soil (SOC100) was 80.68 ± 3.49 Pg C, of which 42.6% was stored in the top 20 cm, sequestrating carbon with a rate of 30.80 ± 12.37 g C m−2 yr−1since the 1980s. Our experiments focusing on the recent two periods (2000s and 2010s) revealed that climate change exerted the largest relative contributions to SOC dynamics in both layers and warming or drying can result in SOC loss. However, the influence of climate change weakened with soil depth, while the opposite for vegetation growth. Relationships between SOC and forest canopy height further confirmed this strengthened impact of vegetation with soil depth and highlighted the carbon sink function of deep soil in mature forest. Moreover, our estimates suggested that SOC dynamics in 71% of topsoil were controlled by climate change and its coupled influence with environmental variation (CE). Meanwhile, CE and the combined influence of climate change and vegetation growth dominated the SOC dynamics in 82.05% of the first meter soil. Additionally, the national cropland topsoil organic carbon increased with a rate of 23.6 ± 7.6 g C m−2 yr−1since the 1980s, and the widely applied nitrogenous fertilizer was a key stimulus. Overall, our study extended the knowledge about the dynamics of SOC and deepened our understanding about the impacts of the primary factors.
Tropicalization of temperate reef fish communities facilitated by urchin grazing and diversity of thermal affinities
Authors: Schuster Jasmin M. , Stuart‐Smith Rick D. , Edgar Graham J. , Bates Amanda E. 
Published: March 2022

AbstractAimGlobal declines in structurally complex habitats are reshaping both land‐ and seascapes in directions that affect the responses of biological communities to warming. Here, we test whether widespread loss of kelp habitats through sea urchin overgrazing systematically changes the sensitivity of fish communities to warming.LocationGlobal temperate latitudes.Time periodModern.Major taxa studiedFishes.MethodsCommunity shifts in thermal affinity related to habitat were assessed by simulating and comparing fish communities from 2271 surveys across 15 ecoregions.ResultsWe found that fishes in kelp and urchin barrens differed in realized thermal affinities and range sizes, but only in regions where species pools had high variability in the thermal affinities of species. Barrens on warm temperate reefs host relatively more warm‐affinity fish species than neighbouring kelp beds, highlighting the acceleration of tropicalization processes facilitated by urchin grazing. In contrast, proportionally more cool‐affinity fishes colonize barrens at high temperate latitudes, contributing to community lags with ocean warming in these regions.Main conclusionsOur findings implicate urchins as drivers of ecological change, in part by affecting ecological resilience to warming.
Reflections on a specialist HIV menopause service
Authors: Chirwa Mimie , Taghinejadi Neda , Macaulay Gabrielle , Mandalia Sundhiya , Bellone Claire , Panay Nicholas , Brum Roberta , Nwokolo Nneka 
Published: March 2022

AbstractObjectivesWe describe here characteristics and clinical outcomes of women living with HIV attending an HIV menopause service.MethodsThis was a retrospective case note review of women attending the monthly HIV menopause clinic from January 2015 to July 2018.ResultsIn all, 55 women attended the service. The overall mean age was 49 years; 50% were black and 20% had a previous AIDS‐defining condition. All were on antiretroviral therapy (ART); the median CD4 count was 678 cells/µL; 93% had a viral load < 50 copies/mL; 7% had previous hepatitis C infection; 27% had a history of smoking; 45% had risk factors or existing cardiovascular disease; 24% had a mental health condition. The median duration of symptoms before clinic attendance was 18 months. Vasomotor symptoms (84%), menstrual cycle changes (62%), psychological (56%) and urogenital symptoms (29%) were reported. Twenty‐two per cent had early menopause or premature ovarian insufficiency. The mean age at attendance of women diagnosed with menopause (n = 24) was 52 years. However, their average duration of symptoms prior to review was 28 months. A total of 61% had osteopenia/osteoporosis, 73% received menopausal hormone therapy (MHT), and 73% had symptomatic improvement, although 58% of these required higher doses of MHT. Median time on MHT was 10 months. Five patients had their ART modified. No serious MHT adverse effects were observed.ConclusionsMenopausal hormone therapy uptake was high, with most women observing an improvement in symptoms. Comorbidities were common, highlighting the need for integrated care based on a woman's needs. The long delay from initial symptoms to treatment demonstrates the need for better access to specialist advice for women experiencing menopause.
Segmentation of collaborative consumption consumers: Social identity theory perspective
Authors: Małecka Agnieszka , Mitręga Maciej , Pfajfar Gregor 
Published: March 2022

AbstractThe aim of this study is to show how consumers' pursuit of social identity drives collaborative consumption. A survey conducted among active participants in various forms of collaborative consumption found four types of users with clearly distinguishable characteristics: Social Followers, Distrustful Prosumers, Doubtful Laggards and Traditional Spenders. We use social identity theory to explain why those users who engage in collaborative consumption because of sociability and seeking excitement are also highly environmentally conscious (Social Followers), while very frugal users show the least trust towards what collaborative consumption has to offer (Distrustful Prosumers). We observe favourable social identity for collaborative consumption in the Social Followers segment and unfavourable social identity in the Doubtful Laggards segment. Our findings suggest that social identity plays an important role in forming consumers’ intentions to participate in collaborative consumption. At the general level of collaborative consumption, our study confirms previous findings that social values outweigh environmental and economic values. However, this study contributes to the discussion and closes the research gap by explaining that each component may predominate depending on the type of collaborative consumption user.
Regulatory role of mitochondrial genes in the tenderisation of lamb meat during postmortem ageing
Authors: Ji Chen , Liu Jijuan , Luo Ruiming 
Published: March 2022

AbstractThe tenderness of mutton is one of the qualities of prime lamb meat. This study investigated the effects of postmortem time on different meat quality parameters and examined the transcriptome involved in the tenderisation of lamb meat during postmortem ageing. Results showed that the pH value and adenosine triphosphate (ATP) levels considerably decreased in the early stage (0–4 days) of postmortem ageing, whereas caspases‐3 activities increased (0–4 days). The pH value notably increased in the later stage (4–8 days), while ATP levels and caspases‐3 activities decreased (4–8 days). The transcriptional changes at the early stage of ageing (0–4 days) play important regulatory roles in translation and hydrogen transmembrane transport. Mitochondrial genes, ATP synthase F0 subunit 6, cytochrome c oxidase subunit I, cytochrome c oxidase subunit II, and cytochrome b were identified as the core genes associated with Tan lamb tenderness. In conclusion, mitochondrial genes most likely contribute to lamb meat tenderness as they affect the activation of caspase‐3.
Dry fractionation as a promising technology to reuse the physically defected legume‐based gluten‐free pasta
Authors: De Angelis Davide , Pasqualone Antonella , Manfredi Luigi , Allegretta Ignazio , Terzano Roberto , Summo Carmine 
Published: March 2022

SummaryDry fractionation was applied to the legume‐based pasta (yellow lentils:whole rice 90:10 w:w) discarded for physical defects. After the air classification, the fine fraction showed a 33% increment of the protein content compared to the raw material, with a 21% yield. The scanning electron micrographs revealed the presence of protein–starch complexes and broken starch granules which led to a low protein separation efficiency. The fine fraction showed interesting nutritional features due to the high concentration of the essential micronutrients Zn (43.3 mg kg−1) and Fe (72.6 mg kg−1). However, also the alpha‐galactosides were enriched into the same fraction. The two fractions, fine and coarse, were both characterised by elevated water absorption capacity, with significantly higher values in the fine one. Finally, the gelling capacity varied among the fractions, being influenced by the protein content. Overall, these ingredients could be used to fortify the protein and the essential mineral contents of bakery products, sauces, and creams.
Erythropoiesis signature and ubiquitin‐mediated proteolysis are enriched in systematic juvenile idiopathic arthritis
Authors: Liu Wenping , Wen Dawei , Liu Ziyi , Wang Kunyu , Wang Jibo 
Published: March 2022

AbstractSystemic Juvenile Idiopathic Arthritis (sJIA) is a distinctive subtype of Juvenile Idiopathic Arthritis (JIA). The pathogenesis of sJIA is still unclear with the limited treatment options. Although previous bioinformatics analyses have identified some genetic factors underlying sJIA, these studies were mostly single centre with a small sample size and the results were often inconsistent. Herein, we combined two data sets of GSE20307 and GSE21521 and select the matrix of patients diagnosed as sJIA in it for further analysis. The GSE20307 and GSE21521 matrixes downloaded from the Gene Expression Omnibus (GEO) were analysed using online tools GEO2R, Venny, Metascape, STRING and Cytoscape to identify differentially expressed genes (DEGs), enrichment pathways, protein–protein interaction (PPI), main module and hub genes between sJIA individuals and healthy controls. A total of 289 overlapping genes (consisting of 41 downregulated genes and 248 upregulated genes) were identified. Hub genes were primarily related to erythropoiesis. And the KEGG (Kyoto Encyclopedia of Genes and Genomes) analysis of overlapping DEGs were mainly involved in malaria and non‐small cell lung cancer. Besides, DEGs in main module were involved in ubiquitin‐mediated proteolysis. Our study suggests that the erythropoiesis signature indeed exists in sJIA similar to previous reports. And ubiquitin‐mediated proteolysis is important in sJIA.
Effective local governance assisting vulnerable groups: The case of youth not in employment, education or training (NEETs) in Sweden
Authors: Mellberg Carina , Minas Renate , Korpi Tomas , Andersson Lisa 
Published: March 2022

AbstractYouth not in employment, education or training (NEETs) have been analyzed from either individual or macro‐structural perspectives, while policy discussions have emphasized national policy. This disregards (i) the substantial variation in NEET rates within countries, and (ii) the importance of local governance for this variation. We examine these issues in Sweden through the lens of interactive governance. Theoretically, four aspects of collective action are highlighted: identification of local NEET subgroups, perceptions of problems and of solutions, and stakeholder relationships. Empirically, an initial multi‐level regression analysis of all 290 Swedish municipalities provided the basis for semi‐structured interviews regarding local work with NEETs in 20 strategically selected municipalities. The qualitative data are here analyzed using fuzzy‐set qualitative comparative analysis. The results suggest that municipalities where local governance combines three of the four aspects, namely identifying NEET subgroups and sharing perceptions of problems and of solutions, have lower NEET shares than predicted.
The fluid handling performance of the curea P1 multipurpose dressing against superabsorbent and foam dressing technologies
Authors: Orlov Aleksei , Gefen Amit 
Published: March 2022

AbstractUsing a novel, automated robotic phantom system containing multiple wound simulants, we determined the fluid handling performance of the curea P1 multipurpose dressing vs market‐leading comparator superabsorbent and foam‐based dressings (FBDs). Specifically, we measured the retained, residual, evaporated, and (potentially occurring) spillover fluid shares for high‐ vs low‐viscosity exudate‐simulant test fluids, at 12, 24, and 30 hours postapplication of the dressings. These experiments were conducted for off‐loaded (‘prone’), non‐off‐loaded (‘supine’), and vertical (‘side‐lying’) simulated body positions. We found that the multipurpose dressing exhibited the best and most robust fluid handling performance across all the test configurations, for both the low‐ and high‐viscosity fluids. The FBD consistently showed the poorest performance compared to the other dressings, rendering it unlikely to be able to manage viscous exudates in ambulant patients (such as when applied to venous leg ulcers) as effectively as the other dressings. The superabsorbent dressing performed better than the foam dressing, but its fluid handling metrics were inferior to those of the multipurpose dressing. The current comparative quantification of the shares of retained, residual, evaporated, and spillover fluid, acquired through standardised laboratory tests, should help decision‐makers to select dressings that best meet their patient needs.
Sexual orientation information and hiring: Can individualizing information lead to negative stereotyping of sexual minority group members?
Authors: Niedlich Claudia , Kachel Sven , Steffens Melanie C. 
Published: March 2022

AbstractImpression formation can be biased by group stereotypes. Experiments on impression formation in the hiring context in which applicants' sexual orientation was manipulated have yielded mixed findings: positive, negative, or no stereotyping and discrimination of lesbian or gay applicants. However, impressions of individuals depend on more than their sexual orientation. The present research targets the question of whether adding individualizing information about an applicant can lead to assimilation to group stereotypes and thus negative impressions. To present individualizing information, we drew on social‐network profiles for their practical relevance in contemporary application processes. Specifically, we tested whether private information concerning the romantic relationship of a lesbian, gay, or bisexual applicant leads to the application of negative stereotypes. In the role of a personnel manager, participants evaluated social‐network profiles and application material. Participants rated one fictitious applicant on agency, communion, and hireability. In Experiment 1 (N = 316), male and female applicants differed in sexual orientation and were additionally depicted alone or being kissed by their partner. In Experiment 2 (N = 419), focusing on male applicants, we hypothesized that negative stereotypes are activated if gay or bisexual, but not heterosexual men live in a non‐normative relationship form (polyamory vs. control: monoamory). Different from expectations, adding individualizing information did not lead to more negative impressions of gay, lesbian, or bisexual applicants. We discuss the implications of these positive impressions for social‐psychological theories.
Institutional features and audit pricing of excess cash holdings: Do auditor liabilities beyond financial statement assurance matter?
Authors: Kuo Nan‐Ting , Li Shu , Zhai Shiyun 
Published: March 2022

AbstractOur study explores the association between audit fees and clients’ excess cash to clarify how institutional features shape auditor assessment on agency problems. Prior studies suggest that this association is positive because agency problems from excess cash amplify auditor business risk, which induces auditors to charge higher fees as compensation. However, we find that this association is negative for Chinese listed companies. We further find that this negative association is attributable to the institutional features of China, where auditor liabilities do not extend beyond financial statement assurance. While prior literature argues that auditors incorporate clients’ agency problems into risk assessment, our results suggest that this incorporation does not naturally extend to cover agency problems from managerial misuses that are per se not audit failures. Whether auditors view agency problems from excess cash as a risk factor depends on the institutional features about the scope of their liabilities. Our study highlights the importance of institutional features in shaping auditor decisions.