bluuebunny/crossref_metadata_2025_split huggingface dataset:
Novel CARMIL2 loss-of-function variants are associated with pediatric inflammatory bowel disease
Authors: Bosa Luca , Batura Vritika , Colavito Davide , Fiedler Karoline , Gaio Paola , Guo Conghui , Li Qi , Marzollo Antonio , Mescoli Claudia , Nambu Ryusuke , Pan Jie , Perilongo Giorgio , Warner Neil , Zhang Shiqi , Kotlarz Daniel , Klein Christoph , Snapper Scott B. , Walters Thomas D. , Leon Alberta , Griffiths Anne M. , Cananzi Mara , Muise Aleixo M. 
Published: March 2021

AbstractCARMIL2 is required for CD28-mediated co-stimulation of NF-κB signaling in T cells and its deficiency has been associated with primary immunodeficiency and, recently, very early onset inflammatory bowel disease (IBD). Here we describe the identification of novel biallelicCARMIL2variants in three patients presenting with pediatric-onset IBD and in one with autoimmune polyendocrine syndrome (APS). None manifested overt clinical signs of immunodeficiency before their diagnosis. The first patient presented with very early onset IBD. His brother was found homozygous for the sameCARMIL2null variant and diagnosed with APS. Two other IBD patients were found homozygous for a nonsense and a missenseCARMIL2variant, respectively, and they both experienced a complicated postoperative course marked by severe infections. Immunostaining of bowel biopsies showed reduced CARMIL2 expression in all the three patients with IBD. Western blot and immunofluorescence of transfected cells revealed an altered expression pattern of the missense variant. Our work expands the genotypic and phenotypic spectrum of CARMIL2 deficiency, which can present with either IBD or APS, aside from classic immunodeficiency manifestations.CARMIL2should be included in the diagnostic work-up of patients with suspected monogenic IBD.
Association between denture use, chewing ability, and all-cause mortality in middle-aged and older adults who exercised regularly in Korea
Authors: Jang Jong-Hwa , Kim Ji-Liang , Kim Jae-Hyun 
Published: March 2021

AbstractHerein, using data from the Korean Longitudinal Study of Aging (2006–2018), we evaluated denture use and chewing ability to determine the status of oral health in middle-aged adults who exercised regularly; further, we investigated the relationship of oral health with all-cause mortality. From the basic survey conducted in 2006, we interviewed 10,254 participants who were followed up until death. The participants were grouped based on regular exercise into REG (n = 3921) and non-REG (n = 6290) groups. The mortality rate was higher in the non-REG group than in the REG group (35.8% versus 26.9%;p < 0.001). The mortality rate was higher in denture users (versus non-denture users), non-drinkers (versus alcohol drinkers), and those on medical aid (versus national health insurance). The mortality rate was higher in participants with poor masticatory ability, lower education level, and poor subjective health perception (p < 0.001). Denture use and masticatory discomfort were not significant risk factors for mortality in the non-REG group (p > 0.05). In conclusion, masticatory discomfort was a risk factor for increased mortality in middle-aged Korean adults who exercised regularly, at least once a week. Thus, assessment of masticatory ability could be a useful indicator of life expectancy in middle-aged adults.
Epidemiology, clinical relevance and prognosis of staphylococci in hospital-acquired postoperative intra-abdominal infections: an observational study in intensive care unit
Authors: Boussion Kévin , Zappella Nathalie , Grall Nathalie , Ribeiro-Parenti Lara , Papin Grégory , Montravers Philippe 
Published: March 2021

AbstractThe pathogenic role of staphylococci in hospital-acquired postoperative intra-abdominal infections (HAIs) has never been evaluated. In a tertiary care university hospital, we assessed the clinical characteristics and outcomes of patients admitted to the intensive care unit for HAIs according to the presence of staphylococci (S-HAI) or their absence (nS-HAI) in peritoneal cultures. Patients with S-HAIs were compared to nS-HAIs patients. Overall, 380 patients were analyzed, including 87 (23%) S-HAI patients [29 Staphylococcus aureus (Sa-HAIs) and 58 coagulase-negative staphylococci (CoNS-HAIs)]. The clinical characteristics did not differ between the S-HAI and nS-HAI patients. Adequacy of empirical anti-infective therapy was achieved less frequently in the staphylococci group (54 vs 72%, respectively, p < 0.01). The 90-day (primary endpoint) and one-year mortality rates did not differ between these groups. The S-HAI patients had decreased rates of postoperative complication (p < 0.05). The adjusted analysis of the clinical outcomes reported a decreased frequency of surgical complications in the staphylococci group (OR 0.43, 95% CI [0.20–0.93], p = 0.03). While the trends toward decreased morbidity criteria were observed in S-HAI patients, the clinical outcomes were not different between the CoNS-HAI and Sa-HAI patients. In summary, our data are not substantial enough to conclude that staphylococci exhibit no pathogenicity in HAIs.
Aspects regarding colour fastness and adsorption studies of a new azo-stilbene dye for acrylic resins
Authors: Popa Simona , Radulescu-Grad Maria Elena , Perdivara Alina , Mosoarca Giannin 
Published: March 2021

AbstractThe aim of this study was the colour fastness investigation of the new synthetized direct symmetrical azo-stilbene dye, using two of the film field domain reference tests, namely the wet-scrub and the UV tests. The dye was incorporated in a water-based resin, and then was applied on a PCV foil. The film colour parameters were determined before and after 200 wet-scrub cycles. Further, the dye was mixed with an acrylo-polyurethanic resin and then was applied on an aluminium plate, which was exposed to UV radiation for 414 h. The film colour parameters were recorded periodically. The maxima of the reflectance spectra depend on the UV time exposure. The quality of the film was analysed by the degree of gloss. A second focus was the elimination of the dye’s traces from wastewaters (these may be resulted from the industries which apply surface coating methods), using the active carbon powder. The main operational adsorption process parameters influence were investigated. Equilibrium, kinetic and thermodynamic studies were performed. The adsorption process was confirmed by the CIEL*a*b* colour space analysis. All colour studies were investigated using UV–Vis spectroscopy.
Automated severity scoring of atopic dermatitis patients by a deep neural network
Authors: Bang Chul Hwan , Yoon Jae Woong , Ryu Jae Yeon , Chun Jae Heon , Han Ju Hee , Lee Young Bok , Lee Jun Young , Park Young Min , Lee Suk Jun , Lee Ji Hyun 
Published: March 2021

AbstractScoring atopic dermatitis (AD) severity with the Eczema Area and Severity Index (EASI) in an objective and reproducible manner is challenging. Automated measurement of erythema, papulation, excoriation, and lichenification severity using images has not yet been investigated. Our aim was to determine whether convolutional neural networks (CNNs) could assess erythema, papulation, excoriation, and lichenification severity at a level of competence comparable to dermatologists. We created a standard dataset of 8,000 clinical images showing AD. Each component of the EASI was scored from 0 to 3 by three dermatologists. We trained four CNNs (ResNet V1, ResNet V2, GoogLeNet, and VGG-Net) with the image dataset and determined which CNN was the most suitable for erythema, papulation, excoriation, and lichenification scoring. The brightness of the images in each dataset was adjusted to − 80% to + 80% of the original brightness (i.e., 9 levels by 20%) to investigate if the CNNs accurately measured scores if image brightness levels were changed. Compared to the dermatologists’ scoring, accuracy rates of the CNNs were 99.17% for erythema, 93.17% for papulation, 96.00% for excoriation, and 97.17% for lichenification. CNNs trained with brightness-adjusted images achieved a high accuracy without the need to standardize camera settings. These results suggested that CNNs perform at level of competence comparable to dermatologists for scoring erythema, papulation, excoriation, and lichenification severity.
Common pitfalls and recommendations for using machine learning to detect and prognosticate for COVID-19 using chest radiographs and CT scans
Authors: Roberts Michael , Driggs Derek , Thorpe Matthew , Gilbey Julian , Yeung Michael , Ursprung Stephan , Aviles-Rivero Angelica I. , Etmann Christian , McCague Cathal , Beer Lucian , Weir-McCall Jonathan R. , Teng Zhongzhao , Gkrania-Klotsas Effrossyni ,   AIX-COVNET, Ruggiero Alessandro , Korhonen Anna , Jefferson Emily , Ako Emmanuel , Langs Georg , Gozaliasl Ghassem , Yang Guang , Prosch Helmut , Preller Jacobus , Stanczuk Jan , Tang Jing , Hofmanninger Johannes , Babar Judith , Sánchez Lorena Escudero , Thillai Muhunthan , Gonzalez Paula Martin , Teare Philip , Zhu Xiaoxiang , Patel Mishal , Cafolla Conor , Azadbakht Hojjat , Jacob Joseph , Lowe Josh , Zhang Kang , Bradley Kyle , Wassin Marcel , Holzer Markus , Ji Kangyu , Ortet Maria Delgado , Ai Tao , Walton Nicholas , Lio Pietro , Stranks Samuel , Shadbahr Tolou , Lin Weizhe , Zha Yunfei , Niu Zhangming , Rudd James H. F. , Sala Evis , Schönlieb Carola-Bibiane 
Published: March 2021

AbstractMachine learning methods offer great promise for fast and accurate detection and prognostication of coronavirus disease 2019 (COVID-19) from standard-of-care chest radiographs (CXR) and chest computed tomography (CT) images. Many articles have been published in 2020 describing new machine learning-based models for both of these tasks, but it is unclear which are of potential clinical utility. In this systematic review, we consider all published papers and preprints, for the period from 1 January 2020 to 3 October 2020, which describe new machine learning models for the diagnosis or prognosis of COVID-19 from CXR or CT images. All manuscripts uploaded to bioRxiv, medRxiv and arXiv along with all entries in EMBASE and MEDLINE in this timeframe are considered. Our search identified 2,212 studies, of which 415 were included after initial screening and, after quality screening, 62 studies were included in this systematic review. Our review finds that none of the models identified are of potential clinical use due to methodological flaws and/or underlying biases. This is a major weakness, given the urgency with which validated COVID-19 models are needed. To address this, we give many recommendations which, if followed, will solve these issues and lead to higher-quality model development and well-documented manuscripts.
SOX7 suppresses endothelial-to-mesenchymal transitions by enhancing VE-cadherin expression during outflow tract development
Authors: Jiang Xuechao , Li Tingting , Li Bojian , Wei Wei , Li Fen , Chen Sun , Xu Rang , Sun Kun 
Published: March 2021

Abstract
The endothelial-to-mesenchymal transition (EndMT) is a critical process that occurs during the development of the outflow tract (OFT). Malformations of the OFT can lead to the occurrence of conotruncal defect (CTD). SOX7 duplication has been reported in patients with congenital CTD, but its specific role in OFT development remains poorly understood. To decipher this, histological analysis showed that SRY-related HMG-box 7 (SOX7) was regionally expressed in the endocardial endothelial cells and in the mesenchymal cells of the OFT, where EndMT occurs. Experiments, using in vitro collagen gel culture system, revealed that SOX7 was a negative regulator of EndMT that inhibited endocardial cell (EC) migration and resulted in decreased number of mesenchymal cells. Forced expression of SOX7 in endothelial cells blocked further migration and improved the expression of the adhesion protein vascular endothelial (VE)-cadherin (VE-cadherin). Moreover, a VE-cadherin knockdown could partly reverse the SOX7-mediated repression of cell migration. Luciferase and electrophoretic mobility shift assay (EMSA) demonstrated that SOX7 up-regulated VE-cadherin by directly binding to the gene’s promoter in endothelial cells. The coding exons and splicing regions of the SOX7 gene were also scanned in the 536 sporadic CTD patients and in 300 unaffected controls, which revealed four heterozygous SOX7 mutations. Luciferase assays revealed that two SOX7 variants weakened the transactivation of the VE-cadherin promoter. In conclusion, SOX7 inhibited EndMT during OFT development by directly up-regulating the endothelial-specific adhesion molecule VE-cadherin. SOX7 mutations can lead to impaired EndMT by regulating VE-cadherin, which may give rise to the molecular mechanisms associated with SOX7 in CTD pathogenesis.
Joint active and passive beamforming optimization for intelligent reflecting surface assisted proactive eavesdropping
Authors: Yang Jie , Huang Kaizhi , Sun Xiaoli , Wang Yi 
Published: March 2021

AbstractThis paper investigates a three‐node proactive eavesdropping system with the aid of intelligent reflecting surface (IRS), where a monitor tries to wiretap information and transmit jamming signals simultaneously to interfere with the suspicious link. The IRS is deployed around the suspicious users to reconstruct propagation channel. Meanwhile, with large low‐cost passive reflecting elements, it can provide more spatial degrees of freedom to moderate the link quality. In order to degrade exposure risk of eavesdropping behavior, the authors' objective is to minimize the jamming power by carefully designing jamming beamforming vectors and the phase shifts under the constraint of reliable intercepted information. The formulated problem is non‐trivial to solve due to the coupling variables and unit‐modulus constraints. Fortunately, by using alternating optimization and successive convex approximation techniques, the original problem is transformed into convex form and a sub‐optimal solution is achieved. Numerical results show that the proposed scheme can effectively reduce the jamming power and the number of the jamming antennas over benchmark schemes, which is quite suitable for covertly overhearing signal.
Multi‐vendor interoperability in HVDC grid protection: State‐of‐the‐art and challenges ahead
Authors: Wang Mian , Leterme Willem , Chaffey Geraint , Beerten Jef , Van Hertem Dirk 
Published: March 2021

AbstractMulti‐vendor interoperable HVDC grid protection is key to build large‐scale HVDC grids in a step‐by‐step manner. On the one hand, various protection strategies and technologies have been developed in the past decade to address the challenges associated with HVDC grid protection. On the other hand, state‐of‐the‐art HVDC technologies are often vendor‐specific and there is a general lack of standardisation on HVDC systems as the majority of existing HVDC systems have been built by single vendors as turn‐key projects. In recent years, driven by the need to develop multi‐vendor HVDC grids, both national and international standardisation bodies have been working on guidelines and pre‐standardisation for HVDC systems. This paper provides a comprehensive review of the recent progress on HVDC grid protection focusing on multi‐vendor interoperability and identifies the main challenges to achieve interoperable HVDC grid protection. Compared to AC system protection, the fundamental differences of multi‐vendor interoperability in HVDC grid protection are the possible co‐existence of multiple protection philosophies and the extended scope of the fault clearing process in terms of protection and control. The challenges and research needs related to multi‐vendor HVDC grid protection due to these fundamental differences are identified.
Effects and Side Effects of Platelet Transfusion
Authors: Cognasse Fabrice , Hally Kathryn , Fauteux-Daniel Sebastien , Eyraud Marie-Ange , Arthaud Charles-Antoine , Fagan Jocelyne , Mismetti Patrick , Hamzeh-Cognasse Hind , Laradi Sandrine , Garraud Olivier , Larsen Peter 
Published: March 2021

AbstractAside from their canonical role in hemostasis, it is increasingly recognized that platelets have inflammatory functions and can regulate both adaptive and innate immune responses. The main topic this review aims to cover is the proinflammatory effects and side effects of platelet transfusion. Platelets prepared for transfusion are subject to stress injury upon collection, preparation, and storage. With these types of stress, they undergo morphologic, metabolic, and functional modulations which are likely to induce platelet activation and the release of biological response modifiers (BRMs). As a consequence, platelet concentrates (PCs) accumulate BRMs during processing and storage, and these BRMs are ultimately transfused alongside platelets. It has been shown that BRMs present in PCs can induce immune responses and posttransfusion reactions in the transfusion recipient. Several recent reports within the transfusion literature have investigated the concept of platelets as immune cells. Nevertheless, current and future investigations will face the challenge of encompassing the immunological role of platelets in the scope of transfusion.
Immunoediting role for major vault protein in apoptotic signaling induced by bacterial
N
-acyl homoserine lactones
Authors: Rayo Josep , Gregor Rachel , Jacob Nicholas T. , Dandela Rambabu , Dubinsky Luba , Yashkin Alex , Aranovich Alexander , Thangaraj Manikandan , Ernst Orna , Barash Eran , Malitsky Sergey , Florea Bogdan I. , Krom Bastiaan P. , Wiemer Erik A. C. , Kickhoefer Valerie A. , Rome Leonard H. , Mathison John C. , Kaufmann Gunnar F. , Overkleeft Herman S. , Cravatt Benjamin F. , Zor Tsaffrir , Janda Kim D. , Ulevitch Richard J. , Kravchenko Vladimir V. , Meijler Michael M. 
Published: March 2021

Significance
It has become clear that our immune system can significantly inhibit the growth of cancer cells, in a process that has been coined “cancer immunoediting.” Based on this model, if the programmed cell death (apoptosis) mediated through immunosurveillance processes is not successful, the tumor cells may enter an equilibrium phase where they are either maintained or “edited” immunologically, leading to populations of tumor variants in the escape phase. Microbial factors have been found to affect cancer immunoediting. In this study we have identified a central player in these processes, called the major vault protein (MVP). Binding of certain bacterial signaling molecules to MVP strongly modulates apoptotic signaling, provoking new ideas and avenues to understand human-bacterial relationships and fight cancer.
A conformational switch driven by phosphorylation regulates the activity of the evolutionarily conserved SNARE Ykt6
Authors: McGrath Kaitlyn , Agarwal Shivani , Tonelli Marco , Dergai Mykola , Gaeta Anthony L. , Shum Andrew K. , Lacoste Jessica , Zhang Yongbo , Wen Wenyu , Chung Daayun , Wiersum Grant , Shevade Aishwarya , Zaichick Sofia , van Rossum Damian B. , Shuvalova Ludmilla , Savas Jeffrey N. , Kuchin Sergei , Taipale Mikko , Caldwell Kim A. , Caldwell Guy A. , Fasshauer Dirk , Caraveo Gabriela 
Published: March 2021

SignificanceYkt6 is a conserved SNARE that plays critical roles along multiple vesicular pathways. To achieve its function, Ykt6 cycles between the cytosol and membrane-bound compartments through reversible lipidation. The mechanism that regulates these transitions is unknown. Ykt6 function is disrupted by α-synuclein, a protein critically implicated in synucleinopathies such as Parkinson’s Disease. Through a multidisciplinary approach, we report that phosphorylation regulated by Ca2+signaling drives a conformational change that allows Ykt6 to switch from a closed cytosolic to an open membrane-bound form. Phosphorylation is also a critical determinant for Ykt6 protein interactions with functional consequences in the secretory and autophagy pathways under normal and α-synuclein conditions. This work provides a mechanistic insight into Ykt6 regulation with therapeutic implications for synucleinopathies.
Ancient plant DNA reveals High Arctic greening during the Last Interglacial
Authors: Crump Sarah E. , Fréchette Bianca , Power Matthew , Cutler Sam , de Wet Gregory , Raynolds Martha K. , Raberg Jonathan H. , Briner Jason P. , Thomas Elizabeth K. , Sepúlveda Julio , Shapiro Beth , Bunce Michael , Miller Gifford H. 
Published: March 2021

Significance
The Arctic is warming exceptionally rapidly, promoting an expansion of shrubs across the Arctic with global-scale climate implications. The Last Interglacial (∼125,000 y ago) was the most recent time the Arctic was warmer than present and thus serves as an analogue for Arctic greening in the near future. Ancient plant DNA in lake sediment from this time reveals major ecosystem changes in response to warmth, including an ∼400 km northward shift of dwarf birch relative to today. Enhanced shrub cover, corroborated by molecular and microfossil analyses, amplified warming during the Last Interglacial and will likely play a similar role in the future. This record constitutes the oldest authenticated plant DNA from lake sediment yet reported, increasing the technique’s temporal potential.
A multimillion-year-old record of Greenland vegetation and glacial history preserved in sediment beneath 1.4 km of ice at Camp Century
Authors: Christ Andrew J. , Bierman Paul R. , Schaefer Joerg M. , Dahl-Jensen Dorthe , Steffensen Jørgen P. , Corbett Lee B. , Peteet Dorothy M. , Thomas Elizabeth K. , Steig Eric J. , Rittenour Tammy M. , Tison Jean-Louis , Blard Pierre-Henri , Perdrial Nicolas , Dethier David P. , Lini Andrea , Hidy Alan J. , Caffee Marc W. , Southon John 
Published: March 2021

SignificanceUnderstanding Greenland Ice Sheet history is critical for predicting its response to future climate warming and contribution to sea-level rise. We analyzed sediment at the bottom of the Camp Century ice core, collected 120 km from the coast in northwestern Greenland. The sediment, frozen under nearly 1.4 km of ice, contains well-preserved fossil plants and biomolecules sourced from at least two ice-free warm periods in the past few million years. Enriched stable isotopes in pore ice indicate precipitation at lower elevations than present, implying ice-sheet absence. The similarity of cosmogenic isotope ratios in the upper-most sediment to those measured in bedrock near the center of Greenland suggests that the ice sheet melted and re-formed at least once during the past million years.
Decoupling expression and editing preferences of ADAR1 p150 and p110 isoforms
Authors: Sun Tony , Yu Yingpu , Wu Xianfang , Acevedo Ashley , Luo Ji-Dung , Wang Jiayi , Schneider William M. , Hurwitz Brian , Rosenberg Brad R. , Chung Hachung , Rice Charles M. 
Published: March 2021

Significance
ADAR1, an A-to-I RNA editing enzyme, is an essential gene and also an attractive target for cancer therapy. Mutations in ADAR1 cause devastating autoinflammatory diseases, and inhibition of ADAR1 remarkably reduces tumor growth. ADAR1 binds and edits RNA through two isoforms: p150 (150 kDa) and p110 (110 kDa), but the function and RNA substrates of each isoform are incompletely understood. Here we report that the p150 mRNA is capable of coexpressing p150 and p110 isoforms. This finding raises the importance of investigating the biological significance behind coupled expression of p150 and p110. To this end, we developed a genetic strategy to decouple p150 and p110 expression that allows for determination of isoform-selective RNA editing events.