bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genetic determinants of daytime napping and effects on cardiometabolic health
Authors: Dashti Hassan S. , Daghlas Iyas , Lane Jacqueline M. , Huang Yunru , Udler Miriam S. , Wang Heming , Ollila Hanna M. , Jones Samuel E. , Kim Jaegil , Wood Andrew R. ,   23andMe Research Team, Weedon Michael N. , Aslibekyan Stella , Garaulet Marta , Saxena Richa 
Published: June 2020

AbstractDaytime napping is a common, heritable behavior, but its genetic basis and causal relationship with cardiometabolic health remains unclear. Here, we performed a genome-wide association study of self-reported daytime napping in the UK Biobank (n=452,633) and identified 123 loci of which 60 replicated in 23andMe research participants (n=541,333). Findings included missense variants in established drug targets (HCRTR1, HCRTR2), genes with roles in arousal (TRPC6, PNOC), and genes suggesting an obesity-hypersomnolence pathway (PNOC, PATJ). Signals were concordant with accelerometer-measured daytime inactivity duration and 33 signals colocalized with signals for other sleep phenotypes. Cluster analysis identified 3 clusters suggesting distinct nap-promoting mechanisms with heterogeneous associations with cardiometabolic outcomes. Mendelian randomization showed potential causal links between more frequent daytime napping and higher systolic blood pressure, diastolic blood pressure, and waist circumference.
Guillain-Barr é syndrome in COVID-19: A scoping review
Authors: Ahmad Imran , Rathore Farooq Azam 
Published: June 2020

AbstractIntroductionThe novel corona virus (COVID19) can result in several neurological complications. Guillain-Barré Syndrome (GBS) is one of them and has been reported from different parts of the world in this pandemic. It is an acute post infectious polyneuropathy. The review aims to summarize the demographic features, clinical presentation, diagnostics workup, and management strategies of COVID-19 associated GBS reported in literature.Material and methodWe searched Medline, PubMed Central, SCOPUS and Google Scholar using pre-defined keywords, with no time limits and in English language only. We aimed to include all kind of manuscripts. Last search was done on 18th May 2020.Demographics, clinical features, diagnostic workup, management, and outcomes were documented in the data sheet.ResultsWe identified 24 cases of COVID-19 associated GBS. Most of the cases were reported from Italy followed by USA. Majority were males (18 /24) The age ranged from 23 -84 years. The clinical presentation was typical sensory-motor GBS in most. Nine patients had facial palsy of which five had bilateral involvement. Two patients had bilateral abducent nerve palsy while two presented as paraparetic GBS variant with autonomic dysfunction. Electrodiagnostics was performed in 17 patients only and 12 had typical features of acute inflammatory demyelinating polyneuropathy.. Intravenous immunoglobulins were the preferred mode of treatment in most of the patient. There was one death, and most were discharged to rehabilitation or home.ConclusionGBS is a frequent neurological complication associated with COVID-19. There is no clear causative relationship between GBS, and COVID-19 at present and more data are needed to establish the casualty. However, most cases have a post-infectious onset with male preponderance. Most of the cases have a typical presentation but some may present in an atypical way. Prognosis is generally good.
Risk and severity of COVID-19 and ABO blood group in transcatheter aortic valve patients
Authors: Kibler Marion , Carmona Adrien , Marchandot Benjamin , Matsushita Kensuke , Trimaille Antonin , Kanso Mohamad , Dietrich Laurent , How-Choong Cécile , Odier Albane , Gennesseaux Gabrielle , Schramm Ophélie , Reydel Antje , Kindo Michel , Hoang Minh , Hess Sébastien , Sato Chisato , Caillard Sophie , Jesel Laurence , Morel Olivier , Ohlmann Patrick 
Published: June 2020

ABSTRACTBackgroundAlthough cardiovascular disease has been associated with an increased risk of coronavirus disease 2019 (COVID-19), no studies have reported its clinical course in patients with aortic stenosis who had undergone transcatheter aortic valve replacement (TAVR).Several observational studies have found an association between the A blood group and an increased susceptibility to SARS-CoV-2 infection, whereas the O blood group appears to be protective.ObjectiveTo investigate the frequency and clinical course of COVID-19 in a large sample of patients who had undergone TAVR and to determine the associations of the ABO blood group with disease occurrence and outcomes.MethodsPatients who had undergone TAVR between 2010 and 2019 were included in this study and followed-up through the recent COVID-19 outbreak. The main outcomes were the occurrence and severity (hospitalization and/or death) of COVID-19 and their association with the ABO blood group.ResultsOf the 1125 patients who had undergone TAVR, 403 (36%) died before January 1, 2020, and 20 (1.8%) were lost to follow-up. The study sample therefore consisted of 702 patients. Among them, we identified 22 cases (3.1%) with COVID-19. Fourteen patients (63.6%) were hospitalized or died of disease. Multivariate analysis identified the A blood group (versus others) as the only independent predictor of COVID-19 in patients who had undergone TAVR (odds ratio [OR] = 6.32; 95% confidence interval [CI] = 2.11-18.92; p=0.001). The A blood group (versus others; OR = 8.27; 95% CI = 1.83-37.43, p=0.006) and a history of cancer (OR = 4.99; 95% CI = 1.64-15.27, p = 0.005) were significantly and independently associated with disease severity (hospitalization and/or death).ConclusionsPatients who had undergone TAVR are vulnerable to COVID-19. The subgroup with the A blood group was especially prone to develop the disease and showed unfavorable outcomes.Condensed abstractAmong 702 patients who had undergone TAVR between 2010 and 2019 and who were alive on January 1, 2020, 22 patients developed COVID-19. Fourteen patients (63.6%) were hospitalized or died of disease. The A blood group (versus others) was the only independent predictor of COVID-19. The A blood group and a history of cancer were significantly and independently associated with disease severity (hospitalization and/or death). Altogether these findings suggest that patients who had undergone TAVR are vulnerable to COVID-19. The subgroup with the A blood group was especially prone to develop the disease and showed unfavorable outcomes.
Impact of social distancing measures for preventing coronavirus disease 2019 [COVID-19]: A systematic review and meta-analysis protocol
Authors: Regmi Krishna , Lwin Cho Mar 
Published: June 2020

AbstractIntroductionSocial distancing measures (SDMs) protect public health from the outbreak of coronavirus disease 2019 (COVID-19). However, the impact of SDMs has been inconsistent and unclear. This study aims to assess the effects of SDMs (e.g. isolation, quarantine) for reducing the transmission of COVID-19.Methods and analysisWe will conduct a systematic review meta-analysis research of both randomised controlled trials and non-randomised controlled trials. We will search MEDLINE, EMBASE, Allied & Complementary Medicine, COVID-19 Research and WHO database on COVID-19 for primary studies assessing the effects of SDMs (e.g. isolation, quarantine) for reducing the transmission of COVID-19, and will be reported in accordance with PRISMA statement. The PRISMA-P checklist will be used while preparing this protocol. We will use Joanna Briggs Institute guidelines (JBI Critical Appraisal Checklists) to assess the methodological qualities and synthesised performing thematic analysis. Two reviewers will independently screen the papers and extracted data. If sufficient data are available, the random-effects model for meta-analysis will be performed to measure the effect size of SDMs or the strengths of relationships. To assess the heterogeneity of effects, I2together with the observed effects (Q-value, with degrees of freedom) will be used to provide the true effects in the analysis.Ethics and disseminationEthics approval and consent will not be required for this systematic review of the literature as it does not involve human participation. We will be able to disseminate the study findings using the following strategies: we will be publishing at least one paper in peer-reviewed journals, and an abstract will be presented at suitable national/international conferences or workshops. We will also share important information with public health authorities as well as with the World Health Organization. In addition, we may post the submitted manuscript under review to bioRxiv, medRxiv, or other relevant pre-print servers.Strengths and limitations of this studyTo our knowledge, this study will be the first systematic review to examine the impact of social distancing measures to reduce transmission of COVID-19.This study will offer highest level of evidence for informed decisions, drawing a broader framework.This protocol reduces the possibility of duplication, provides transparency to the methods and procedures that will be used, minimise potential biases and allows peer-review.This research is not externally funded, and therefore time and resource will be constrained.If included studies will be variable in sample size, quality and population, which may open to bias, and the heterogeneity of data will preclude a meaningful meta-analysis to measure the impact of specific SDMs
COVID-19: a crash test for biomedical publishing?
Authors: Iourov Ivan Y , Zelenova Maria A , Vorsanova Svetlana G 
Published: June 2020

AbstractThe effect of COVID-19 on biomedical publishing (BP) (i.e. scientific biomedical periodicals continuously published by research communities or commercial publishers) has not been deeply explored. To estimate the immediate COVID-19 impact on BP, we have assessed PubMed-indexed articles about COVID-19 (PMIAC) from December 2019 to April 2020. PMIAC have been classified according to publication date, country, and journals for evaluation of time-, region- and scientometric-dependant impact of COVID-19 on BP and have been curated manually (i.e. each entry has been individually analyzed). PMIAC analysis reflects geographic and temporal parameters of outbreak spread. A major BP problem is related to the fact that only 40% of articles report/review/analyze data. Another BP weakness is the clusterization of “highly-trusted” publications according to countries of origin and “highly impacting” journals. Finally, a problem highlighted by COVID-19 crisis is the increased specification of biomedical research. To solve the problem, analytical reviews integrating data from different areas of biology and medicine are required. The data on PMIAC suggest priority of “what is published” over “where it is published” and “who are the authors”. We believe that our brief analysis may help to shape forthcoming BP to become more effective in solving immediate problems resulted from global threats.
Seroprevalence against COVID-19 and follow-up of suspected cases in primary health care in Spain
Authors: Brotons C , Serrano J , Fernández D , Garcia-Ramos C , Ichazo B , Lemaire J , Montenegro P , Moral I , Pérez Wienese R , Pitarch M , Puig M , Vilella MT , Sellarès J 
Published: June 2020

ABSTRACTBackgroundDuring the coronavirus disease 2019 (COVID-19) pandemic little information has been available about patients with mild or moderate symptoms attended and followed in the primary care setting, most of whom had an unknown status for the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection.ObjectivesWe aim to measure the seroprevalence of antibodies against SARS-CoV-2 infection in a community sample of asymptomatic individuals and among symptomatic patients (without confirmed diagnosis) followed in a primary care setting.As a secondary objective, we estimated the proportions of symptomatic patients seeing at an emergency department (ED), hospitalized or dying, and identified the most important clinical symptoms associated with a positive infection.MethodsFrom April 21 to April 24 2020, we selected a random sample of 600 individuals stratified by age groups, from a total population of 19,899 individuals from a community area in Barcelona (study population 1). From April 29 to May 5 2020, we also invited all the patients that had been followed by general practitioners (GPs) (study population 2).We used for both populations COVID-19 Rapid lateral flow immunoassay which qualitatively assesses the presence of patient-generated IgG and IgM in approximately 10-15 minutes.The prevalence (95% confidence intervals [CI]) of infection (past and current) was defined as the proportion of individuals with antibody seropositivity. Odds ratios (ORs) for a positive test result were estimated using logistic regression analysis.ResultsThree hundred and eleven asymptomatic individuals from the randomly selected sample accepted to participate in the study. The overall mean age was 43.7 years (SD 21.79, range 1-94) and 55% were women. Seventeen individuals were seropositive for IgM and/or IgG, resulting an overall prevalence of 5,47% (95% CI, 3.44-8.58).Six-hundred and thirty-four symptomatic patients were followed by GPs. The overall mean age was 46.97 years (SD 20.05, range 0-92) and 57.73% were women. Of these, 244 patients (38.49%) were seropositive for IgM and/or IgG.During the follow-up period, 27.13% of symptomatic patients attended the ED, 11.83% were hospitalized and about 2% died.Results of the multivariate logistic regression analysis showed that the OR for a positive test was significantly increased in patients who had fever (>38°C), ageusia and contact with a patient diagnosed with COVID-19.ConclusionsThe seroprevalence of antibodies against SARS-CoV-2 among asymptomatic individuals in the general population was lower than expected.Approximately 40% of the symptomatic patients followed by GPs during the peak months of the pandemic in Barcelona, were positive. Fever (>38°C), anosmia, ageusia and contact with a patient diagnosed with COVID-19 were associated with a positive test result.
A plasma membrane nanoplatform ensures signal specificity during osmotic signaling in plants
Authors: Smokvarska M. , Francis C. , Platre M.P. , Fiche J.B. , Alcon C. , Dumont X. , Nacry P. , Bayle V. , Nollmann M. , Maurel C. , Jaillais Y. , Martiniere A. 
Published: June 2020

ABSTRACTIn the course of their growth and development plants have to constantly perceive and react to their environment. This is achieved in cells, by the coordination of complex combinatorial signaling networks. However, how signal integration and specificity are achieved in this context is unknown. With a focus on the hyperosmotic stimulus, we use live super-resolution light imaging methods to demonstrate that a Rho GTPase, Rho-of-Plant 6 (ROP6), forms stimuli-dependant nanodomains within the PM. These nanodomains are necessary and sufficient to transduce production of reactive oxygen species (ROS),that act as secondary messengers and trigger several plant adaptive responses to osmotic constraints. Furthermore, ROP6 activation triggers the nanoclustering of two NADPH oxidases that subsequently generates ROS. ROP6 nanoclustering is also needed for cell surface auxin signaling, but short-time auxin treatment does not induce ROS accumulation. We show that auxin-induced ROP6 nanodomains, unlike osmotically-driven ROP6 clusters, do not recruit the NADPH oxidase, RBOHD. Together, our results suggest that Rho GTPase nano-partitioning at the PM ensure signal specificity downstream of independent stimuli.
Improving qBOLD based measures of oxygen extraction fraction using hyperoxia-BOLD derived measures of blood volume
Authors: Stone Alan J , Blockley Nicholas P 
Published: June 2020

AbstractPurposeStreamlined-qBOLD (sqBOLD) is a refinement of the quantitative BOLD (qBOLD) technique capable of producing non-invasive and quantitative maps of oxygen extraction fraction (OEF) in a clinically feasible scan time. However, sqBOLD measurements of OEF have been reported as being systematically lower than expected in healthy brain. Since the qBOLD framework infers OEF from the ratio of the reversible transverse relaxation rate (R2′) and deoxygenated blood volume (DBV), this underestimation has been attributed the overestimation of DBV. Therefore, this study proposes the use of an independent measure of DBV using hyperoxia-BOLD and investigates whether this results in improved estimates of OEF.MethodsMonte Carlo simulations were used to simulate the qBOLD and hyperoxia-BOLD signals and to compare the systematic and noise related errors of sqBOLD and the new hyperoxia-qBOLD (hqBOLD) technique. Experimentally, sqBOLD and hqBOLD measurements were performed and compared with TRUST (T2relaxation under spin tagging) based oximetry in the sagittal sinus.ResultsSimulations showed a large improvement in the uncertainty of DBV measurements leading to a much improved dynamic range for OEF measurements with hqBOLD. In a group of ten healthy volunteers, hqBOLD produced measurements of OEF in cortical grey matter (OEFhqBOLD= 38.1 ± 10.1 %) that were not significantly different to TRUST oximetry measures (OEFTRUST= 40.4 ± 7.7 %), whilst sqBOLD derived measures (OEFsqBOLD= 16.1 ± 3.1 %) were found to be significantly different.ConclusionThe simulations and experiments in this study demonstrate that an independent measure of DBV provides improved estimates of OEF.
The Spike D614G mutation increases SARS-CoV-2 infection of multiple human cell types
Authors: Daniloski Zharko , Jordan Tristan X. , Ilmain Juliana K. , Guo Xinyi , Bhabha Gira , tenOever Benjamin R. , Sanjana Neville E. 
Published: June 2020

AbstractA novel isolate of the SARS-CoV-2 virus carrying a point mutation in the Spike protein (D614G) has recently emerged and rapidly surpassed others in prevalence. This mutation is in linkage disequilibrium with an ORF1b protein variant (P314L), making it difficult to discern the functional significance of the Spike D614G mutation from population genetics alone. Here, we perform site-directed mutagenesis to introduce the D614G variant and show that in multiple cell lines, including human lung epithelial cells, that the D614G mutation is up to 8-fold more effective at transducing cells than wild-type. We demonstrate increased infection using both Spike-pseudotyped lentivirus and intact SARS-CoV-2 virus. Although there is minimal difference in ACE2 receptor binding between the Spike variants, we show that the G614 variant is more resistant to proteolytic cleavagein vitroand in human cells, suggesting a possible mechanism for the increased transduction. This result has important implications for the efficacy of Spike-based vaccines currently under development in protecting against this recent and highly-prevalent SARS-CoV-2 isolate.
Altered structure and dynamics of pathogenic cytochrome c variants correlate with increased apoptotic activity
Authors: Fellner Matthias , Parakra Rinky , McDonald Kirstin O. , Kass Itamar , Jameson Guy N.L. , Wilbanks Sigurd M. , Ledgerwood Elizabeth C. 
Published: June 2020

AbstractMutation of cytochromecin humans causes mild autosomal dominant thrombocytopenia. The role of cytochromecin platelet formation, and molecular mechanism underlying the association of cytochromecmutations with thrombocytopenia remains unknown, although a gain-of-function is most likely. Cytochromeccontributes to several cellular processes, with exchange between conformational states proposed to regulate changes in function. Here we use experimental and computational approaches to determine whether pathogenic variants share changes in structure and function, and to understand how these changes might occur. We find that three pathogenic variants (G41S, Y48H, A51V) cause an increase in apoptosome activation and peroxidase activity. Molecular dynamics simulations of these variants, and two non-naturally occurring variants (G41A, G41T), indicate that increased apoptosome activation correlates with increased overall flexibility of cytochromec, particularly movement of the Ω loops. This suggests that the binding of cytochromecto apoptotic protease activating factor-1 (Apaf-1) may involve an “induced fit” mechanism which is enhanced in the more conformationally mobile variants. In contrast, peroxidase activity did not significantly correlate with protein dynamics suggesting that the mechanism by which the variants alter peroxidase activity is not related to the conformation dynamics of the hexacoordinate heme Fe state of cytochromecanalyzed in the simulations. Recent suggestions that conformational mobility of specific regions of cytochromecunderpins changes in reduction potential and the alkaline transition pKwere not supported. These data highlight that conformational dynamics of cytochromecdrives some but not all of its properties and activities.
Integrated analysis of high throughput transcriptomic data revealed specific gene expression signature of cardiomyocytes
Authors: Omrani Mohammad Reza , Sharifi Erfan , Khazaei Niusha , Esfahani Sahel Jahangiri , Kieran Nicholas W. , Hashemi Hadi , Mohammadnia Abdulshakour , Yaqubi Moein 
Published: June 2020

AbstractAcquiring a specific transcriptomic signature of the human and mouse cardiomyocyte (CM) will greatly increase our understanding of their biology and associated diseases that remain the most deadly across the world. In this study, using comprehensive transcriptomic mining of 91 cell types over 877 samples from bulk RNA-sequencing, single cell RNA-sequencing, and microarray techniques, we describe a unique 118-gene signature of human and mouse primary CMs. Once we had access to this CM-specific gene signature, we investigated the spatial heterogeneity of CMs throughout the heart tissue. Moreover, we compared the CM-specific gene signature to that of CMs derived from 10 differentiation protocols, and we identified the protocols that generate cells most similar to primary CMs. Finally, we looked at the specific differences between primary and differentiated CMs and found that differentiated cells underexpress genes related to CM development and maturity. The differentiated cells conversely overexpressed cell cycle-related genes, resulting in the progenitor features that remain in differentiated CMs compared to primary adult CMs. The presence of histone post translational modification H3K27ac from ChIP sequencing data sets were used to confirm transcriptomic findings. To the best of our knowledge, this is the most comprehensive study to date that unravels the unique transcriptomic signature of primary and differentiated CMs. This study provides important insights into our understanding of CM biology and the molecular mechanisms that make them such a unique cell type. Moreover, the specific transcriptomic signature of CMs could be used in developmental studies, stem cell therapy, regenerative medicine, and drug screening assays.