bluuebunny/crossref_metadata_2025_split huggingface dataset:
Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria
Authors: Brennenstuhl Heiko , Nashawi Mohammed , Schröter Julian , Baronio Federico , Beedgen Lars , Gleich Florian , Jeltsch Kathrin , von Landenberg Christina , Martini Silvia , Simon Anna , Thiel Christian , Tsiakas Konstantinos , Opladen Thomas , Kölker Stefan , Hoffmann Georg F. , Haas Dorothea ,   Unified Registry for Inherited Metabolic Disorders (U‐IMD) Consortium and the European Registry for Hereditary Metabolic Disorders (MetabERN)
Published: June 2021

AbstractMevalonic aciduria (MVA) and hyperimmunoglobulinemia D syndrome (MKD/HIDS) are disorders of cholesterol biosynthesis caused by variants in the MVK gene and characterized by increased urinary excretion of mevalonic acid. So far, 30 MVA patients have been reported, suffering from recurrent febrile crises and neurologic impairment. Here, we present an in‐depth analysis of the phenotypic spectrum of MVA and provide an in‐silico pathogenicity model analysis of MVK missense variants. The phenotypic spectrum of 11 MVA patients (age range 0‐51 years) registered in the Unified European Registry for Inherited Metabolic Disorders database was systematically analyzed using terms of the Human Phenotype Ontology. Biochemical, radiological as well as genetic characteristics were investigated. Six of eleven patients have reached adulthood and four have reached adolescence. One of the adolescent patients died at the age of 16 years and one patient died shortly after birth. Symptoms started within the first year of life, including episodic fever, developmental delay, ataxia, and ocular involvement. We also describe a case with absence of symptoms despite massive excretion of mevalonic acid. Pathogenic variants causing MVA cluster within highly conserved regions, which are involved in mevalonate and ATP binding. The phenotype of adult and adolescent MVA patients is more heterogeneous than previously assumed. Outcome varies from an asymptomatic course to early death. MVK variants cluster in functionally important and highly conserved protein domains and show high concordance regarding their expected pathogenicity.
Long‐term cognitive and psychosocial outcomes in adults with phenylketonuria
Authors: Aitkenhead Lynne , Krishna Gauri , Ellerton Charlotte , Moinuddin Md , Matcham Jessica , Shiel Lisha , Hossain Shasoty , Kiffin Marianne , Foley Jennifer , Skeath Rachel , Cleary Maureen , Lachmann Robin , Murphy Elaine 
Published: June 2021

AbstractPrevious studies have suggested that cognitive and psychosocial underfunctioning in early‐treated adults with phenylketonuria (PKU) may be explained by suboptimal adherence to dietary treatments, however, these studies often employ small samples, with different outcome measures, definitions and cut‐offs. Samples have also tended to comprise participants with a limited range of blood phenylalanine concentrations, and often individuals who may not have been treated early enough to avoid neurological damage. In this study, we explore the impact of lifetime dietary control, as indicated by blood phenylalanine concentrations in childhood, adolescence and adulthood, on long‐term cognitive and psychosocial outcomes in a large sample of adults with PKU who were diagnosed by neonatal screening and commenced on dietary treatment within the first month of life. One hundred and fifty‐four participants underwent cognitive testing, assessing attention, learning, working memory, language, executive functioning and processing speed. One hundred and forty‐nine completed measures of psychosocial functioning, documenting educational, occupational, quality of life, emotional and social outcomes which were compared with a group of healthy controls. Many adults with PKU demonstrated cognitive impairments, most frequently affecting processing speed (23%), executive function (20%) and learning (12%). Cognitive outcomes were related to measures of historic metabolic control, but only processing speed was significantly related to phenylalanine concentration at the time of testing after controlling for historic levels. Adults with PKU did not, however, differ from controls in educational, occupational, quality of life or emotional outcomes, or on a measure of family functioning, and showed only minor differences in relationship style. These findings have implications for patient counselling and decisions regarding the management of PKU in adulthood.
Fragmentation behavior of EDTA complexes under different activation conditions
Authors: Beck Sebastian 
Published: June 2021

AbstractEthylenediaminetetraacetic acid (EDTA) is an aminopolycarboxylic acid and complexation agent that is able to bind a large variety of metals. The formation of highly stable metal‐EDTA complexes is generally very quick. This has led to the use of EDTA in a variety of applications, including food, medical, and household applications. In the current study, we have investigated the fragmentation behavior of EDTA and various metal complexes under collision‐induced dissociation (CID), infrared‐multiphoton dissociation (IRMPD), and higher‐energy collisional dissociation (HCD) activation conditions. Both, positive and negative mode electrospray ionization (ESI) were applied. The metals used to complex with EDTA ranged from alkaline earth metals, such as sodium and cesium, via calcium, nickel, zinc, aluminum, copper, iron, and indium to yttrium and several lanthanides. Furthermore, the protonated and deprotonated species of EDTA, as well as disodium and trisodium species, have been subjected to fragmentation. The results show that characteristic fragmentations were obtained for EDTA and the metal complexes under the investigated conditions. The use of an ion cyclotron resonance (ICR) and an Orbitrap mass spectrometer, as high resolution‐accurate mass instruments, allowed the assignment of elemental compositions undoubtedly for the vast majority of fragments. Certain trends were observed that trend correlated with the size of the metal and the location within the periodic table.
Impacts of the seesaw mode between the Indian and East Asian summer monsoons on interannual variations in surface solar radiation across the low‐latitude highlands of China
Authors: Ding Yuchao , Yang Ruowen , Cao Jie 
Published: June 2021

AbstractThe relationship between the seesaw mode that connects the Indian summer monsoon (ISM) and East Asian summer monsoon (EASM), and variations in summer surface solar radiation (SSR) across the low‐latitude highlands of China (CLLH), was investigated using atmospheric reanalysis and NOAA global gridded precipitation and outgoing longwave radiation datasets. Singular value decomposition, correlation analysis, and composite analysis were employed. The results indicate that the interannual variations in summer SSR in the CLLH are significantly modulated by the seesaw mode that connects the ISM with the EASM. During the boreal summer, the CLLH SSR variability is positively correlated with ISM intensity, but negatively correlated with EASM intensity. When a strong ISM and a weak EASM occur together, significant anomalous northeasterly winds appear over the CLLH, which reduces the moisture supply to the region from the Bay of Bengal. In addition, significant anomalous descending motion dominates the CLLH, leading to significant negative relative humidity anomalies over the CLLH. Consequently, water vapour, total liquid water form column clouds and high cloud cover decreased significantly over the CLLH, resulting in a higher CLLH SSR than average. Conversely, a lower‐than‐normal CLLH SSR seems to result from the approximately opposite physical process during the years where the ISM is weak and EASM is strong over the CLLH. Given the fact that the correlation between the aerosol optical depth (AOD) and the CLLH SSR is relatively weak, the AOD variability may not be the main control on interannual variations of summer CLLH SSR.
The Arab Spring and Revolutionary Theory: An Intervention in a Debate
Authors: Bayat Asef 
Published: June 2021

AbstractThe so‐called Arab Spring of the 2010s that toppled six dictators has spurred productive debates about the character of these political happenings and their implications for revolutionary theory broadly. One such debate that appeared recently on the pages of Historical Sociology questions whether or not we are moving into a fifth‐generation revolutionary theory. This essay is an attempt to partake in this conversation, not only because my work is under discussion but because I wish to engage with some of the key arguments in the debate to clarify some misunderstandings and suggest ways that the Arab Spring allows for a new thinking about revolution and revolutionary theory. Whether or not new perspectives have emerged may be contested, but there is surely a need for them.
Selenium exerts protective effects against heat stress‐induced barrier disruption and inflammation response in jejunum of growing pigs
Authors: He Ying , Liu Yan , Tang Jiayong , Jia Gang , Liu Guangmang , Tian Gang , Chen Xiaoling , Cai Jingyi , Kang Bo , Zhao Hua 
Published: June 2021

AbstractBACKGROUNDHeat stress (HS) has a negative impact on the intestinal barrier and immune function of pigs. Selenium (Se) may improve intestinal health through affecting selenoproteins. Thus we investigate the protective effect of new organic Se (2‐hydroxy‐4‐methylselenobutanoic acid, HMSeBA) on jejunal damage in growing pigs upon HS and integrate potential roles of corresponding selenoproteins.RESULTSHS decreased the villus height and increased (P < 0.05) the protein abundance of HSP70, and downregulated (P < 0.05) protein levels of tight junction‐related proteins (CLDN‐1 and OCLD). HS‐induced jejunal damage was associated with the upregulation of four inflammation‐related genes and ten selenoprotein‐encoding genes, downregulation (P < 0.05) of four selenoprotein‐encoding genes and decreased (P < 0.05) the protein abundance of GPX4 and SELENOS. Compared with the HS group, HMSeBA supplementation not only elevated the villus height and the ratio of V/C (P < 0:05), but also reduced (P < 0.05) the protein abundance of HSP70 and MDA content, and increased (P < 0.05) the protein abundance of OCLD. HMSeBA supplementation downregulated the expression of seven inflammation‐related genes, changed the expression of 12 selenoprotein‐encoding genes in jejunum mucosa affected by HS, and increased the protein abundance of GPX4, TXNRD1 and SELENOS.CONCLUSIONOrganic Se supplementation beyond nutritional requirement alleviates the negative effect of HS on the jejunum of growing pigs, and its protective effect is related to the response of corresponding selenoproteins. © 2021 Society of Chemical Industry.
Effect of ultrasound pretreatment on the functional and antioxidant properties of fermented and germinated Lupin protein isolates grafted with glucose
Authors: Işçimen Elif Meltem , Hayta Mehmet 
Published: June 2021

AbstractBACKGROUNDThis study examined the functional and antioxidant properties of Maillard reaction (MR) products of lupin protein isolate (LPI), fermented (FLPI), and germinated (GLPI) with glucose (G), treated with ultrasound (US) at different power levels (20–40–60–80%) for 15 min. The MR was conducted in a water bath for 180 min at 90 °C.RESULTSThe Trolox‐equivalent antioxidant capacity (TEAC) values were found to be 46.79%, 56.43%, and 35.56% for the control (C), 58.99%, 80.17%, and 69.73% for conjugates of LPI‐G, FLPI‐G, and GLPI‐G treated at 80% US, respectively. The maximum 2,2‐diphenyl‐1‐picrylhydrazyl (DPPH) scavenging activity of LPI‐G, FLPI‐G, and GLPI‐G was found to be 39.68%, 59.54%, and 48.41%, respectively after 80% US. The FLPI‐G sample showed the highest antioxidant activity compared with the samples treated at the same power level for DPPH and TEAC. The Fe‐chelating activity of GLPI‐G showed significant differences when compared with FLPI‐G. The solubility of LPI‐G, FLPI‐G, and GLPI‐G increased with increasing US power. The highest solubility was 74.29% for 80% US‐treated GLPI‐G. The emulsifying activity index (EAI) increased at 20% US and decreased with further increase in the US power. The EAI and emulsifying stability index (ESI) were negatively affected by the MR and US processes.CONCLUSIONThe findings of current study proved that conjugation of LPI with G with the MR and with US pretreatment is an effective method for improving the bio‐ and techno‐functional properties of LPI. It is therefore likely that the properties of plant proteins modified by biochemical and physical treatments may widen their applications in the food industry. © 2021 Society of Chemical Industry.
Effect of solid‐state fermentation by three different Bacillus species on composition and protein structure of soybean meal
Authors: Dai Chunhua , Hou Yizhi , Xu Haining , Huang Liurong , Dabbour Mokhtar , Mintah Benjamin K , He Ronghai , Ma Haile 
Published: June 2021

AbstractBACKGROUNDFermentation efficiency of thermophiles of Bacillus licheniformis YYC4 and Geobacillus stearothermophilus A75, and mesophilic Bacillus subtilis 10 160 on soybean meal (SBM), was evaluated by examining the nutritional and protein structural changes.RESULTSSBM fermentation by B. licheniformis YYC4, B. subtilis 10 160 and G. stearothemophilus A75 increased significantly the crude and soluble protein from 442.4 to 524.8, 516.1 and 499.9 g kg−1, and from 53.9 to 203.3, 291.3 and 74.6 g kg−1, and decreased trypsin inhibitor from 8.19 to 3.19, 2.14 and 5.10 mg g−1, respectively. Bacillus licheniformis YYC4 and B. subtilis 10 160 significantly increased phenol and pyrazine content. Furthermore, B. licheniformis YYC4 fermentation could produce abundant alcohols, ketones, esters and acids. Surface hydrophobicity, sulfhydryl groups and disulfide bond contents of SBM protein were increased significantly from 98.27 to 166.13, 173.27 and 150.71, from 3.26 to 4.88, 5.03 and 4.21 μmol g−1, and from 20.77 to 27.95, 29.53 and 25.5 μmol g−1 after their fermentation. Fermentation induced red shifts of the maximum absorption wavelength (λmax) of fluorescence spectra from 353 to 362, 376 and 361 nm, while significantly reducing the fluorescence intensity of protein, especially when B. subtilis 10 160 was used. Moreover, fermentation markedly changed the secondary structure composition of SBM protein. Analyses by sodium dodecyl sulfate–polyacrylamide gel electrophoresis and atomic force microscopy showed that macromolecule protein was degraded into small‐sized protein or peptide during fermentation of SBM.CONCLUSIONBacillus licheniformis YYC4 fermentation (without sterilization) improved nutrition and protein structure of SBM as B. subtilis 10 160, suggesting its potential application in the SBM fermentation industry. © 2021 Society of Chemical Industry.
Genome‐wide identification of heat shock transcription factors and potential role in regulation of antioxidant response under hot water and glycine betaine treatments in cold‐stored peaches
Authors: Wang Li , Hou Yuanyuan , Wang Yi , Hu Shunqing , Zheng Yonghua , Jin Peng 
Published: June 2021

AbstractBACKGROUNDHeat shock transcription factors (Hsfs) play pivotal roles in plant responses to stress. Although glycine betaine (GB) and hot water (HW) treatments are effective in reducing chilling injury (CI), little is known about the characterization of the Hsfs gene family and its potential roles in alleviating CI by regulating antioxidant systems in peach fruit.RESULTSIn this study, 17 PpHsfs were identified in the peach genome and were investigated using bioinformatics, including chromosomal locations, phylogenetic relationships, gene structure, motifs, and promoter analyses. The expression patterns of PpHsfs under GB and HW treatments were also investigated. The PpHsfs showed different expression patterns in GB‐ and HW‐treated fruit, and most of them were significantly up‐regulated by both treatments, especially PpHsfA1a/b, PpHsfA2a, PpHsfA9a, and PpHsfB2a/b. Meanwhile, GB and HW treatments induced higher levels of gene expression and antioxidant enzyme activity of superoxide dismutase (SOD), catalase (CAT), and ascorbate peroxidase (APX) compared to the control, contributing to the inhibition of hydrogen peroxide (H2O2) accumulation and superoxide anion (O2.−) production. Moreover, the correlation analysis between PpHsfs and antioxidant‐related genes showed that three PpAPXs were significantly correlated with ten PpHsfs, whereas PpCAT and PpSOD had no significant correlations with PpHsfs, which indicated that PpAPX might be regulated by PpHsfs.CONCLUSIONSThe results indicated that GB and HW treatments induced different PpHsfs transcript levels to regulate the antioxidant gene expressions, which might be beneficial in inhibiting the accumulation of reactive oxygen species and protecting the integrity of cell structure, thus alleviating the development of CI in peach fruit during cold storage. © 2021 Society of Chemical Industry.
Prevalence of Potentially Morally Injurious Events in Operationally Deployed Canadian Armed Forces Members
Authors: Hansen Kevin T. , Nelson Charles G. , Kirkwood Kenneth 
Published: June 2021

AbstractAs moral injury is a still‐emerging concept within the area of military mental health, prevalence estimates for moral injury and its precursor, potentially morally injurious events (PMIEs), remain unknown for many of the world's militaries. The present study sought to estimate the prevalence of PMIEs in the Canadian Armed Forces (CAF), using data collected from CAF personnel deployed to Afghanistan, via logistic regressions controlling for relevant sociodemographic, military, and deployment characteristics. Analyses revealed that over 65% of CAF members reported exposure to at least one event that would be considered a PMIE. The most commonly PMIEs individuals reported included seeing ill or injured women and children they were unable to help (48.4%), being unable to distinguish between combatants and noncombatants (43.6%), and finding themselves in a threatening situation where they were unable to respond due to the rules of engagement under which they were required to operate (35.4%). These findings provide support for both the presence of exposure to PMIEs in CAF members and the need for formal longitudinal data collection regarding PMIE exposure and moral injury development.
Outcome of Immunoglobulin Replacement Therapy in Adults With Rhinosinusitis
Authors: Makary Chadi A. , Behnke John , Peppers Brian , Ramadan Hassan H. 
Published: June 2021

ObjectiveTo evaluate the outcome of immunoglobulin (IG) replacement therapy in adults with rhinosinusitis and primary humoral immunodeficiency disorders (PID).Study DesignRetrospective cohort study.MethodsRetrospective chart review of adult (18 years and older) patients who were diagnosed with PID and had the diagnosis of recurrent acute rhinosinusitis (RARS) and chronic rhinosinusitis (CRS) and who are on IG replacement therapy. Demographic data, associated conditions, and duration of treatment were reviewed. Number of yearly sinus infections, sinus CT Lund‐Mackay (LM) score, and need for functional endoscopic sinus surgery (FESS) were reviewed before and after starting IG therapy.ResultsFifty‐eight patients were included. Average age was 52 years (18–79 years). About 74% were female. Thirty patients (51.7%) had common variable immunodeficiency (CVID), 18 (31.1%) had hypogammaglobulinemia, and 10 (17.2%) had specific antibody deficiency (SAD). About 79% of patients had allergic rhinitis and 74% had asthma. Pretreatment LM score was 7.6 (±2.2, range of 0–24) compared to posttreatment score of 3.5 (±1.3, range of 0–16) (P = .01). Eleven patients (19%) had FESS pretreatment compared to only two patients (3.4%) requiring ESS after starting treatment on IG therapy (P = .004). Prior to starting IG therapy, five patients (8.6%) had more than 10 sinus infections per year, 33 patients (56.9%) had 5 to 10 infections, and 20 patients (34.5%) had 1 to 5 infections per year. After starting on IG, 34 patients (58.6%) had no infections reported anymore (P < .001), and 24 patients (41.4%) had only 1 to 5 infections reported per yearConclusionIG therapy is a promising treatment option for recurrent rhinosinusitis in patients with PID.Level of Evidence4 Laryngoscope, 132:732–736, 2022
Outcomes of Kidney Allograft and Recipient Survival After Liver Transplantation by Induction Type in the United States
Authors: Riad Samy M. , Lim Nicholas , Jackson Scott , Matas Arthur J. , Lake John 
Published: June 2021

There are several choices for induction immunosuppression in kidney‐after‐liver transplantation. We used the Scientific Registry of Transplant Recipients database. We assessed all kidney‐after‐liver transplant recipients in the United States between 1/1/2000 and 7/31/2017 to study kidney graft and patient outcomes by induction type. We only included patients discharged on tacrolimus and mycophenolate with or without steroids and had a negative crossmatch before kidney engraftment. We grouped recipients by kidney induction type into the following 3 groups: depletional (n = 550), nondepletional (n = 434), and no antibody induction (n = 144). We studied patient and kidney allograft survival using Cox proportional hazard regression, with transplant center included as a random effect. Models were adjusted for liver induction regimen, recipient and donor age, sex, human leukocyte antigen mismatches, payor type, living donor kidney transplantation, dialysis status, time from liver engraftment, hepatitis C virus status, and the presence of diabetes mellitus at time of kidney transplantation and transplantation year. The 6‐month and 1‐year rejection rates did not differ between groups. Compared with no induction, neither depletional nor nondepletional induction was associated with an improved recipient or graft survival in the multivariable models. Depletional induction at the time of liver transplantation was associated with worse patient survival after kidney transplantation (hazard ratio [HR], 1.7; 95% confidence interval [CI], 1.09‐2.67; P = 0.02). Living donor kidney transplantation was associated with a 48.1% improved graft survival (HR, 0.52; 95% CI, 0.33‐0.82; P = 0.00). In conclusion, in the settings of a negative cross‐match and maintenance with tacrolimus and mycophenolate, induction use was not associated with a patient or graft survival benefit in kidney‐after‐liver transplantations.
Enhancing Tissue Adhesion and Osteoblastic Differentiation of MC3T3‐E1 Cells on Poly(aryl ether ketone) by Chemically Anchored Hydroxyapatite Nanocomposite Hydrogel Coating
Authors: Liu Chengde , Pan Liang , Liu Cheng , Liu Wentao , Li Yizheng , Cheng Xitong , Jian Xigao 
Published: June 2021

AbstractTissue adhesion to bone implant and osteoblastic differentiation are the key factors to achieve poly(aryl ether ketone) (PAEK) implant osseointegration. However, physical interaction of implant with tissue and hydroxyapatite coating suffers from slow implant tissue integration and lack of long‐term stability. In this study, a novel poly(phthalazinone ether sulfone ketone) containing allyl groups (APPBAESK) is coated onto PPBESK sheet for reacting with the allyl groups of the hydrogel coating to enhance its stability. N‐Succinimidyl (NHS)‐ester activated group and nano‐hydroxyapatite (nano‐HA) are introduced into the hydrogel synthesized from gelatin methacrylate (GelMA) and acrylic acid to construct a nanocomposite hydrogel coating on PPBESK which is a promising PAEK implant material. The hydrophilicity of the PPBESK sheet is improved by the hydrogel coating. The chemical components of the nanocomposite hydrogel coating are confirmed by X‐ray photoelectron spectroscope, Attenuated total reflection infrared, and X‐ray powder diffraction. The tissue shear adhesion strength of the hydrogel coating toward pig skin is enhanced due to the synergism of NHS‐ester activated group and nano‐HA. The osteogenic differentiation of MC3T3‐E1 preosteoblasts is promoted by nano‐HA in nanocomposite hydrogel coating. Therefore, the bifunctional nanocomposite hydrogel coating provides a great application prospect in the surface modification of PAEK implants in bone tissue engineering.