bluuebunny/crossref_metadata_2025_split huggingface dataset:
rs1944919 on chromosome 11q23.1 and its effector genes COLCA1/COLCA2 confer susceptibility to primary biliary cholangitis
Authors: Hitomi Yuki , Aiba Yoshihiro , Kawai Yosuke , Kojima Kaname , Ueno Kazuko , Nishida Nao , Kawashima Minae , Gervais Olivier , Khor Seik-Soon , Nagasaki Masao , Tokunaga Katsushi , Nakamura Minoru , Tsuiji Makoto 
Published: February 2021

AbstractPrimary biliary cholangitis (PBC) is a chronic, progressive cholestatic liver disease in which intrahepatic bile ducts are destroyed by an autoimmune reaction. Our previous genome-wide association study (GWAS) identified chromosome 11q23.1 as a susceptibility gene locus for PBC in the Japanese population. Here, high-density association mapping based on single nucleotide polymorphism (SNP) imputation and in silico/in vitro functional analyses identified rs1944919 as the primary functional variant. Expression-quantitative trait loci analyses showed that the PBC susceptibility allele of rs1944919 was significantly associated with increased COLCA1/COLCA2 expression levels. Additionally, the effects of rs1944919 on COLCA1/COLCA2 expression levels were confirmed using genotype knock-in versions of cell lines constructed using the CRISPR/Cas9 system and differed between rs1944919-G/G clones and -T/T clones. To our knowledge, this is the first study to demonstrate the contribution of COLCA1/COLCA2 to PBC susceptibility.
Associations of ultrasound estimated early mid pregnancy visceral and subcutaneous fat depths and early pregnancy BMI with adverse neonatal outcomes
Authors: Lindberger Emelie , Wikström Anna-Karin , Bergman Eva , Eurenius Karin , Mulic-Lutvica Ajlana , Lindström Linda , Sundström Poromaa Inger , Ahlsson Fredrik 
Published: February 2021

AbstractThis study investigated whether maternal central adiposity and body mass index (BMI) were associated with neonatal hypoglycemia and adverse neonatal outcomes. A cohort study was performed at Uppsala University Hospital, Sweden, between 2015 and 2018. Visceral and subcutaneous fat depths were measured by ultrasound at the early second-trimester anomaly scan in 2771 women giving birth to singleton infants. Body mass index was assessed in early pregnancy. Logistic regression models were performed. Adjustments were made for age, BMI (not in model with BMI as exposure), smoking, maternal country of birth, and parity. Outcomes were neonatal hypoglycemia (blood glucose concentration < 2.6 mmol/l), a composite of adverse neonatal outcomes (Apgar < 7 at 5 min of age, or umbilical artery pH ≤ 7.0, or admission to neonatal intensive care unit), and the components of the composite outcome. Visceral and subcutaneous fat depths measured by ultrasound in early mid pregnancy were not associated with any of the outcomes in adjusted analyses. For every unit increase in BMI, the likelihood of neonatal hypoglycemia increased by 5% (aOR 1.05, 95% CI 1.01–1.10), the composite outcome by 5% (aOR 1.05, 95% CI 1.01–1.08), and admission to neonatal intensive care unit by 6% (aOR 1.06, 95% CI 1.02–1.10).
Memories for third-person experiences in immersive virtual reality
Authors: Iriye Heather , St. Jacques Peggy L. 
Published: February 2021

AbstractWe typically experience the world from a first-person perspective (1PP) but can sometimes experience events from a third-person perspective (3PP) much as an observer might see us. Little is known about how visual perspective influences the formation of memories for events. We developed an immersive virtual reality paradigm to examine how visual perspective during encoding influences memories. Across two studies, participants explored immersive virtual environments from first-person and third-person avatar perspectives while wearing an Oculus Rift headset. Memory was tested immediately (Study One and Study Two) and following a one-week delay (Study Two). We assessed the accuracy of visual memory using cued recall questions and spatial memory by asking participants to draw maps of the layout of each environment (Study One and Study Two). Additional phenomenological ratings were included to assess visual perspective during remembering (Study Two). There were no differences in the accuracy of visual information across the two studies, but 3PP experiences were found to increase spatial memory accuracy due to their wider camera field of view when compared to 1PP experiences. Our results also demonstrate that 3PP experiences create 3PP memories, as reflected by an increase in subjective ratings of observer-like perspectives during remembering. In sum, visual perspective during memory formation influences the accuracy of spatial but not visual information, and the vantage point of memories during remembering.
Utility of CT texture analysis to differentiate olfactory neuroblastoma from sinonasal squamous cell carcinoma
Authors: Ogawa Masaki , Osaga Satoshi , Shiraki Norio , Kawakita Daisuke , Hanai Nobuhiro , Tamaki Tsuneo , Tsukahara Satoshi , Kawaguchi Takatsune , Urano Misugi , Shibamoto Yuta 
Published: February 2021

AbstractThe purpose of this study was to examine differences in texture features between olfactory neuroblastoma (ONB) and sinonasal squamous cell carcinoma (SCC) on contrast-enhanced CT (CECT) images, and to evaluate the predictive accuracy of texture analysis compared to radiologists’ interpretations. Forty-three patients with pathologically-diagnosed primary nasal and paranasal tumor (17 ONB and 26 SCC) were included. We extracted 42 texture features from tumor regions on CECT images obtained before treatment. In univariate analysis, each texture features were compared, with adjustment for multiple comparisons. In multivariate analysis, the elastic net was used to select useful texture features and to construct a texture-based prediction model with leave-one-out cross-validation. The prediction accuracy was compared with two radiologists’ visual interpretations. In univariate analysis, significant differences were observed for 28 of 42 texture features between ONB and SCC, with areas under the receiver operating characteristic curve between 0.68 and 0.91 (median: 0.80). In multivariate analysis, the elastic net model selected 18 texture features that contributed to differentiation. It tended to show slightly higher predictive accuracy than radiologists’ interpretations (86% and 74%, respectively;P = 0.096). In conclusion, several texture features contributed to differentiation of ONB from SCC, and the texture-based prediction model was considered useful.
Structural insights into SARS-CoV-2 spike protein and its natural mutants found in Mexican population
Authors: Sixto-López Yudibeth , Correa-Basurto José , Bello Martiniano , Landeros-Rivera Bruno , Garzón-Tiznado Jose Antonio , Montaño Sarita 
Published: February 2021

AbstractThe severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is a newly emerged coronavirus responsible for coronavirus disease 2019 (COVID-19); it become a pandemic since March 2020. To date, there have been described three lineages of SARS-CoV-2 circulating worldwide, two of them are found among Mexican population, within these, we observed three mutations of spike (S) protein located at amino acids H49Y, D614G, and T573I. To understand if these mutations could affect the structural behavior of S protein of SARS-CoV-2, as well as the binding with S protein inhibitors (cepharanthine, nelfinavir, and hydroxychloroquine), molecular dynamic simulations and molecular docking were employed. It was found that these punctual mutations affect considerably the structural behavior of the S protein compared to wild type, which also affect the binding of its inhibitors into their respective binding site. Thus, further experimental studies are needed to explore if these affectations have an impact on drug-S protein binding and its possible clinical effect.
Experimental pilot study for augmented reality-enhanced elbow arthroscopy
Authors: Yamamoto Michiro , Oyama Shintaro , Otsuka Syuto , Murakami Yukimi , Yokota Hideo , Hirata Hitoshi 
Published: February 2021

AbstractThe purpose of this study was to develop and evaluate a novel elbow arthroscopy system with superimposed bone and nerve visualization using preoperative computed tomography (CT) and magnetic resonance imaging (MRI) data. We obtained bone and nerve segmentation data by CT and MRI, respectively, of the elbow of a healthy human volunteer and cadaveric Japanese monkey. A life size 3-dimensional (3D) model of human organs and frame was constructed using a stereo-lithographic 3D printer. Elbow arthroscopy was performed using the elbow of a cadaveric Japanese monkey. The augmented reality (AR) range of error during rotation of arthroscopy was examined at 20 mm scope–object distances. We successfully performed AR arthroscopy using the life-size 3D elbow model and the elbow of the cadaveric Japanese monkey by making anteromedial and posterior portals. The target registration error was 1.63 ± 0.49 mm (range 1–2.7 mm) with respect to the rotation angle of the lens cylinder from 40° to − 40°. We attained reasonable accuracy and demonstrated the operation of the designed system. Given the multiple applications of AR-enhanced arthroscopic visualization, it has the potential to be a next-generation technology for arthroscopy. This technique will contribute to the reduction of serious complications associated with elbow arthroscopy.
Association of changes of retinal vessels diameter with ocular blood flow in eyes with diabetic retinopathy
Authors: Ueno Yoshitaka , Iwase Takeshi , Goto Kensuke , Tomita Ryo , Ra Eimei , Yamamoto Kentaro , Terasaki Hiroko 
Published: February 2021

AbstractWe investigated morphological changes of retinal arteries to determine their association with the blood flow and systemic variables in type 2 diabetes patients. The patients included 47 non-diabetic retinopathy eyes, 36 mild or moderate nonproliferative diabetic retinopathy (M-NPDR) eyes, 22 severe NPDR (S-NPDR) eyes, 32 PDR eyes, and 24 normal eyes as controls. The mean wall to lumen ratio (WLR) measured by adaptive optics camera was significantly higher in the PDR groups than in all of the other groups (all P < 0.001). However, the external diameter of the retinal vessels was not significantly different among the groups. The mean blur rate (MBR)-vessel determined by laser speckle flowgraphy was significantly lower in the PDR group than in the other groups (P < 0.001). The WLR was correlated with MBR-vessel (r = − 0.337, P < 0.001), duration of disease (r = 0.191, P = 0.042), stage of DM (r = 0.643, P < 0.001), systolic blood pressure (r = 0.166, P < 0.037), and presence of systemic hypertension (r = 0.443, P < 0.001). Multiple regression analysis demonstrated that MBR-vessel (β = − 0.389, P < 0.001), presence of systemic hypertension (β = 0.334, P = 0.001), and LDL (β = 0.199, P = 0.045) were independent factors significantly associated with the WLR. The increased retinal vessel wall thickness led to a narrowing of lumen diameter and a decrease in the blood flow in the PDR group.
Coupling ITO3dE model and GIS for spatiotemporal evolution analysis of agricultural non-point source pollution risks in Chongqing in China
Authors: Zhu Kang-wen , Yang Zhi-min , Huang Lei , Chen Yu-cheng , Zhang Sheng , Xiong Hai-ling , Wu Sheng , Lei Bo 
Published: February 2021

AbstractTo determine the risk state distribution, risk level, and risk evolution situation of agricultural non-point source pollution (AGNPS), we built an ‘Input-Translate-Output’ three-dimensional evaluation (ITO3dE) model that involved 12 factors under the support of GIS and analyzed the spatiotemporal evolution characteristics of AGNPS risks from 2005 to 2015 in Chongqing by using GIS space matrix, kernel density analysis, and Getis-Ord Gi* analysis. Land use changes during the 10 years had a certain influence on the AGNPS risk. The risk values in 2005, 2010, and 2015 were in the ranges of 0.40–2.28, 0.41–2.57, and 0.41–2.28, respectively, with the main distribution regions being the western regions of Chongqing (Dazu, Jiangjin, etc.) and other counties such as Dianjiang, Liangping, Kaizhou, Wanzhou, and Zhongxian. The spatiotemporal transition matrix could well exhibit the risk transition situation, and the risks generally showed no changes over time. The proportions of ‘no-risk no-change’, ‘low-risk no-change’, and ‘medium-risk no-change’ were 10.86%, 33.42%, and 17.25%, respectively, accounting for 61.53% of the coverage area of Chongqing. The proportions of risk increase, risk decline, and risk fluctuation were 13.45%, 17.66%, and 7.36%, respectively. Kernel density analysis was suitable to explore high-risk gathering areas. The peak values of kernel density in the three periods were around 1110, suggesting that the maximum gathering degree of medium-risk pattern spots basically showed no changes, but the spatial positions of high-risk gathering areas somehow changed. Getis-Ord Gi* analysis was suitable to explore the relationships between hot and cold spots. Counties with high pollution risks were Yongchuan, Shapingba, Dianjiang, Liangping, northwestern Fengdu, and Zhongxian, while counties with low risks were Chengkou, Wuxi, Wushan, Pengshui, and Rongchang. High-value hot spot zones gradually dominated in the northeast of Chongqing, while low-value cold spot zones gradually dominated in the Midwest. Our results provide a scientific base for the development of strategies to prevent and control AGNPS in Chongqing.
Persistent COUP-TFII expression underlies the myopathy and impaired muscle regeneration observed in resistance to thyroid hormone-alpha
Authors: Aguiari Paola , Liu Yan-Yun , Petrosyan Astgik , Cheng Sheue-yann , Brent Gregory A. , Perin Laura , Milanesi Anna 
Published: February 2021

AbstractThyroid hormone signaling plays an essential role in muscle development and function, in the maintenance of muscle mass, and in regeneration after injury, via activation of thyroid nuclear receptor alpha (THRA). A mouse model of resistance to thyroid hormone carrying a frame-shift mutation in the THRA gene (THRA-PV) is associated with accelerated skeletal muscle loss with aging and impaired regeneration after injury. The expression of nuclear orphan receptor chicken ovalbumin upstream promoter-factor II (COUP-TFII, or Nr2f2) persists during myogenic differentiation in THRA-PV myoblasts and skeletal muscle of aged THRA-PV mice and it is known to negatively regulate myogenesis. Here, we report that in murine myoblasts COUP-TFII interacts with THRA and modulates THRA binding to thyroid response elements (TREs). Silencing of COUP-TFII expression restores in vitro myogenic potential of THRA-PV myoblasts and shifts the mRNA expression profile closer to WT myoblasts. Moreover, COUP-TFII silencing reverses the transcriptomic profile of THRA-PV myoblasts and results in reactivation of pathways involved in muscle function and extracellular matrix remodeling/deposition. These findings indicate that the persistent COUP-TFII expression in THRA-PV mice is responsible for the abnormal muscle phenotype. In conclusion, COUP-TFII and THRA cooperate during post-natal myogenesis, and COUP-TFII is critical for the accelerated skeletal muscle loss with aging and impaired muscle regeneration after injury in THRA-PV mice.
A low power flexible dielectric barrier discharge disinfects surfaces and improves the action of hydrogen peroxide
Authors: Gershman Sophia , Harreguy Maria B. , Yatom Shurik , Raitses Yevgeny , Efthimion Phillip , Haspel Gal 
Published: February 2021

AbstractThere is an urgent need for disinfection and sterilization devices accessible to the public that can be fulfilled by innovative strategies for using cold atmospheric pressure plasmas. Here, we demonstrate a successful novel combination of a flexible printed circuit design of a dielectric barrier discharge (flex-DBD) with an environmentally safe chemical reagent for surface decontamination from bacterial contaminants. Flex-DBD operates in ambient air, atmospheric pressure, and room temperature without any additional gas flow at a power density not exceeding 0.5 W/cm2. The flex-DBD activation of a 3% hydrogen peroxide solution results in the reduction in the bacterial load of a surface contaminant of > 6log10 in 90 s, about 3log10 and 2log10 better than hydrogen peroxide alone or the flex-DBD alone, respectively, for the same treatment time. We propose that the synergy between plasma and hydrogen peroxide is based on the combined action of plasma-generated OH· radicals in the hydrogen peroxide solution and the reactive nitrogen species supplied by the plasma effluent. A scavenger method verified a significant increase in OH· concentration due to plasma treatment. Novel in-situ FTIR absorption spectra show the presence of O3, NO2, N2O, and other nitrogen species. Ozone dissolving in the H2O2 solution can effectively generate OH· through a peroxone process. The addition of the reactive nitrogen species increases the disinfection efficiency of the hydroxyl radicals and other oxygen species. Hence, plasma activation of a low concentration hydrogen peroxide solution, using a hand-held flexible DBD device results in a dramatic improvement in disinfection.
A case of retinitis pigmentosa homozygous for a rare CNGA1 causal variant
Authors: Saito Kohei , Gotoh Norimoto , Kang Inyeop , Shimada Toshio , Usui Takeshi , Terao Chikashi 
Published: February 2021

AbstractRetinitis pigmentosa (RP) is a heterogenous hereditary disorder leading to blindness. Despite using next-generation sequencing technologies, causal variants in about 60% of RP cases remain unknown. The heterogeneous genetic inheritance pattern makes it difficult to pinpoint causal variants. Besides, rare penetrating variants are hardly observed in general case–control studies. Thus, a family-based analysis, specifically in a consanguineous family, is a clinically and genetically valuable approach for RP. We analyzed a Japanese consanguineous family with a member suffering from RP with a typical autosomal recessive pattern. We sequenced five direct descendants and spouse using Whole-exome sequencing (WES) and Whole-genome sequencing (WGS). We identified a homozygous pathogenic missense variant in CNGA1 (NM_000087.3, c.839G > A, p.Arg280His) in the proband, while we found no homozygous genotypes in the other family members. CNGA1 was previously reported to be associated with RP. We confirmed the genotypes by the Sanger sequencing. Additionally, we assessed the homozygous genotype in the proband for the possibility of a founder mutation using homozygosity analysis. Our results suggested the two copies of the variant derived from a founder mutation. In conclusion, we found the homozygotes for c.839G > A in CNGA1 as causal for RP.
Maximizing avertable doses with a minimum amount of waste for remediation of land areas around typical single family houses after radioactive fallout based on Monte Carlo simulations
Authors: Hinrichsen Yvonne , Finck Robert , Martinsson Johan , Rääf Christopher 
Published: February 2021

AbstractThe uncontrolled release of long-lived radioactive substances from nuclear accidents can contaminate inhabited land areas. The removal of topsoil is an important method for reducing future radiation exposure but can also generate a large amount of waste that needs safe disposal. To the best of our knowledge, previous studies have determined the optimal depth of topsoil removal but not the size of the area designated for this measure. For this purpose, this study performed Monte Carlo simulations of hypothetical 137Cs surface contamination on various ground areas in a typical northern European suburban area. The goal was to study the size of the areas needed and amount of waste generated to achieve a certain relative and absolute dose reduction. The results showed that removing the topsoil from areas larger than 3000 m2 around the houses in the study neighbourhood results in only marginal reduction in radiation exposure. If, on average, 5 cm of topsoil is removed over 3000 m2, then 150 m3 of waste would be generated. However, in this scenario adjacent properties benefit from each other’s decontamination, leading to a smaller amount of waste for a given reduction in future radiation exposure per inhabitant of these dwellings. Additionally, it was shown that topsoil removal over limited areas has a higher impact on the absolute dose reduction at an observation point inside or outside the houses with higher initial dose.
Bacterial-mediated RNAi and functional analysis of Natalisin in a moth
Authors: Wang Xia-Fei , Chen Zhe , Wang Xu-Bo , Xu Jin , Chen Peng , Ye Hui 
Published: February 2021

AbstractThe neuropeptide natalisin (NTL) has been determined to play essential roles in reproduction in two Diptera and one Coleoptera species. Whether NTL has similar or even different functions in Lepidoptera remains to be determined. Here, we cloned the NTL transcript in the common cutworm moth Spodoptera litura. This transcript encodes a 438-amino acid protein. Twelve putative Sl-NTL neuropeptides were defined by cleavage sites. These NTL peptides share a DDPFWxxRamide C-terminal motif. The expressions of Sl-NTL is low during the egg and larval stages, which increased to a higher level during the pupal stage, and then reached the maximum during the adult stage. Moreover, the expression pattern during the pupal stage is similar between sexes while during the adult stage, it is dimorphic. To explore the function of Sl-NTL and assess its potential as a target for pest control, we knocked down the expression of Sl-NTL in both sexes by using bacteria-mediated RNAi. This technique significantly down regulated (reduced up to 83%) the expression of Sl-NTL in both sexes. Knocking down Sl-NTL expression did not significantly affect its development, survival and morphology but significantly reduced adults’ reproductive behavior (including female calling, male courtship, mating and remating patterns and rates) and reproductive output (offspring gain reduced more than 70%).
Rimklb mutation causes male infertility in mice
Authors: Maekura Koji , Tsukamoto Satoshi , Hamada-Kanazawa Michiko , Takano Masaoki 
Published: February 2021

AbstractRimklb is a mammalian homologue of the E. coli enzyme RimK, which catalyzes addition of glutamic acid to the ribosomal protein S6. To date, no previous studies have shown any physiological role for Rimklb in mammals. In this study, using Western blotting, we found that Rimklb is distributed and expressed in mouse testis and heart. Rimklb was subsequently localized to the testicular Leydig cells using immunohistochemistry with an anti-Rimklb antibody. We generated a Rimklb mutant mouse in which a three-base deletion results in deletion of Ala 29 and substitution of Leu 30 with Val, which we named the RimklbA29del, L30V mutant mouse. RimklbA29del, L30V mutant mice show a decrease in testicular size and weight, and in vitro fertilization demonstrates complete male infertility. Furthermore, we found that a key factor in the mammalian target of the rapamycin/ribosomal protein S6 transcriptional pathway is hyperphosphorylated in the seminiferous tubules of the mutant testis. We conclude that Rimklb has important roles that include spermatogenesis in seminiferous tubules. In summary, male RimklbA29del, L30V mice are infertile.