bluuebunny/crossref_metadata_2025 huggingface dataset:
Psychometric Properties of Self-Regulated Learning Strategies in Learning English Grammar and English Grammar Self-Efficacy Scales
Authors: Truong Thi Nhu Ngoc
Published: March 2022

The study reports on the psychometric properties of instruments that can measure EFL students’ self-regulated learning strategy use and English grammar self-efficacy and examines the relationship between these two constructs. 350 male and 432 female students, aged between 16 and 17, from two high schools in Vietnam participated in the survey. The participants answered the Questionnaire of Self-Regulated Learning Strategies in Learning English Grammar (QSRLSLEG),and the Questionnaire of English Grammar Self-Efficacy (QEGSE). The disjoint two-stage approach for Partial Least Square-Structural Equation was used to analyze the data. The results showed that the 24-item QSRLSLEG and 8-item QEGSE have face, content, and construct validity and reliability. A moderate relationship between SRL strategies in English grammar learning and English grammar SE was found. Both instruments are reliable and valid assessment tools, providing useful information for researchers and English teachers to investigate important aspects of students’ self-regulation in learning English grammar.
Determination of the Interaction and Pharmacological Modulation of MCHR1 Signaling by the C-Terminus of MRAP2 Protein
Authors: Wang Meng , Zhai Yue , Lei Xiaowei , Xu Jing , Jiang Bopei , Kuang Zhe , Zhang Cong , Liu Shangyun , Bian Shan , Yang Xiao-Mei , Zan Tao , Jin Li-Na , Li Qingfeng , Zhang Chao
Published: March 2022

Melanin concentrating hormone (MCH), an orexigenic neuropeptide, is primarily secreted by the hypothalamus and acts on its receptor, the melanin-concentrating hormone receptor 1 (MCHR1), to regulate appetite and energy homeostasis. The Melanocortin Receptor Accessory Protein 2 (MRAP2), a small single transmembrane protein broadly expressed in multiple tissues, has been defined as a vital endocrine modulator of five melanocortin receptors (MC1R–MC5R) and several other GPCRs in the regulation of central neuronal activities and peripheral energy balance. Here, we demonstrated the interaction between MRAP2 and MCHR1 by immunoprecipitation and bimolecular fluorescent assay and found that MRAP2 could inhibit MCHR1 signaling in vitro. A series of functional truncations of different regions further identified that the C-terminal domains of MRAP2 protein were required for the pharmacological modulation of intracellular Ca2+ coupled cascades and membrane transport. These findings elucidated the broad regulatory profile of MRAP2 protein in the central nervous system and may provide implications for the modulation of central MCHR1 function in vivo.
Application of Two Blastocyst Biopsy Strategies in Preimplantation Genetic Testing Treatment and Assessment of Their Effects
Authors: Yang Han , Yang Dandan , Zhu Qi , Wang Kaijuan , Zhang Chao , Chen Beili , Zou Weiwei , Hao Yan , Ding Ding , Yu Zhaojuan , Ji Dongmei , Chen Dawei , Cao Yunxia , Zou Huijuan , Zhang Zhiguo
Published: March 2022

Background

Blastocyst biopsy has become the most mainstream biopsy method. Currently, there are two blastocyst biopsy strategies. Many studies have compared the advantages and disadvantages between blastomere and blastocyst biopsy, but fewer articles have compared the two blastocyst biopsy strategies. For the moment, no published studies have explored the entire set of information on embryo development, next-generation sequencing results, and clinical outcomes, including the baby’s health status with the two blastocyst biopsy strategies.

Methods

A total of 323 preimplantation genetic testing cycles from April 2018 to May 2020, including 178 cycles with Strategy A and 145 cycles with Strategy B. Strategy A was to create a laser-assisted zona pellucid opening for cleavage embryo on the third day after insemination, but Strategy B was not. Strategy A performed a biopsy for artificially assisted hatching blastocysts, while Strategy B performed a biopsy for expanded blastocysts on day 5 or 6. In this study, embryo development, next-generation sequencing results, pregnancy outcomes, and offspring health of the two strategies were compared and analyzed.

Results

There were no statistical differences between the two groups in the rate of fertilization, blastocyst and abortion. The rate of cleavage from Strategy A was slightly higher than Strategy B, and the rate of high-quality cleavage embryo was lower than Strategy B, while the rate of high-quality blastocyst was higher than Strategy B. The rate of no-results blastocyst was significantly lower than Strategy B. In particular, the rate of biochemical pregnancy, clinical pregnancy, and live birth of Strategy A were significantly lower than those of Strategy B. The average Apgar scores of newborns were ≥8 in both groups, and there was no significant difference in average height and weight. In Strategy A, a baby was born with thumb syndactyly, and Strategy B had no congenital disabilities.

Conclusions

Blastocyst biopsy strategy without laser-assisted zona pellucid drilling on day 3 achieves better clinical treatment effects. Therefore, Strategy B is an optimal treatment regime for PGT.
Fission Gas Behaviors and Relevant Phenomena in Different Nuclear Fuels: A Review of Models and Experiments
Authors: Guo Jingyu , Lai Huansheng , Zhou Wenzhong , Wei Jie
Published: March 2022

Reactor structural integrity and nuclear safety are seriously affected by the fission gas behaviors and relevant physical phenomena in nuclear fuels. In this review, the fission gas behavior and relevant phenomena in different fuels for both models and experiments have been comprehensively overviewed, including fission gas release, gap/plenum pressure, grain growth, swelling, fission gas diffusion coefficients, and fuel cladding mechanical and chemical interactions under irradiations. The fission gas behaviors can be classified into single fission gas behavior and combined fission gas behavior with more interacting physics together. In addition, fission gas behaviors are also profoundly influenced by fuel performance, which is different in different kinds of fuels. The data of different nuclear fuels are collected, for example, UO2, MOX, metallic, U3Si2, UN, UC, and TRISO fuels. The models and experiments on fission gas behaviors are summarized into figures and tables for better comparisons. The fission gas behaviors are mainly subjected to burnup, time, and temperature, which profoundly impact these behaviors. The burnup will motivate the fission gas release and other fission gas behaviors. With the fuel temperature increase, the extent of some fission gas behaviors will be more strengthened, including fission gas release, gap/plenum pressure, grain growth, swelling, and fuel cladding mechanical and chemical interactions. The predicted data are consistent with the measured data, and the modeling results generally agree well with the experimental data. In addition, the observation of enhanced gas release at high burnups is unexpected. However, the modeling approaches on fission gas release behaviors still have certain uncertainties. Therefore, it still has considerable space to be improved and is worth studying in future work.
IGV Optimization for a Large Axial Flow Fan Based on MRGP Model and Sobol’ Method
Authors: Zhou Shuiqing , Hu Yinjie , Lu Laifa , Yang Ke , Gao Zengliang
Published: March 2022

Large axial flow fans with inlet guide vanes (IGVs) have been widely used in building ventilation systems. However, it does not readily satisfy the increasing demand for energy saving, high efficiency, or noise reduction. The rotor-stator interaction between the IGVs and the impeller is particularly important for the aerodynamic performance and noise of the fans. Therefore, this article takes a large axial fan, combined with parameterization methods to optimize the IGVs. Based on numerical simulation analysis, the multiple-response Gaussian process (MRGP) approximate model was established to optimize the IGVs structure, and the Sobol´ method was employed for sensitivity analysis. The best model was selected for proofing analysis, and the experimental and numerical simulation results show that the total pressure of the optimized fan increased by 144.4 Pa and the noise decreased by 7.2 dB. These results verify that the multi-objective optimization design method combining the MRGP approximate model and the Sobol´ method demonstrates high credibility and provides a key design direction for the design optimization of large axial flow fans. This novel optimization method also has easy-to-understand parameters and the coupling relationships between parameters and responses, which has potential value for the design of other types of fluid machinery and provides new ideas for the optimization of fluid machinery.
Mass Transport Limitations and Kinetic Consequences of Corn Stover Deacetylation
Authors: Thornburg Nicholas E. , Ness Ryan M. , Crowley Meagan F. , Bu Lintao , Pecha M. Brennan , Usseglio-Viretta Francois L. E. , Bharadwaj Vivek S. , Li Yudong , Chen Xiaowen , Sievers David A. , Wolfrum Edward J. , Resch Michael G. , Ciesielski Peter N.
Published: March 2022

Alkaline pretreatment of herbaceous feedstocks such as corn stover prior to mechanical refining and enzymatic saccharification improves downstream sugar yields by removing acetyl moieties from hemicellulose. However, the relationship between transport phenomena and deacetylation kinetics is virtually unknown for such feedstocks and this pretreatment process. Here, we report the development of an experimentally validated reaction–diffusion model for the deacetylation of corn stover. A tissue-specific transport model is used to estimate transport-independent kinetic rate constants for the reactive extraction of acetate, hemicellulose and lignin from corn stover under representative alkaline conditions (5–7 g L−1NaOH, 10 wt% solids loadings) and at low to mild temperatures (4–70°C) selected to attenuate individual component extraction rates under differential kinetic regimes. The underlying transport model is based on microstructural characteristics of corn stover derived from statistically meaningful geometric particle and pore measurements. These physical descriptors are incorporated into distinct particle models of the three major anatomical fractions (cobs, husks and stalks) alongside an unsorted, aggregate corn stover particle, capturing average Feret lengths of 917–1239 μm and length-to-width aspect ratios of 1.8–2.9 for this highly heterogeneous feedstock. Individual reaction–diffusion models and their resulting particle model ensembles are used to validate and predict anatomically-specific and bulk feedstock performance under kinetic-controlled vs. diffusion-controlled regimes. In general, deacetylation kinetics and mass transfer processes are predicted to compete on similar time and length scales, emphasizing the significance of intraparticle transport phenomena. Critically, we predict that typical corn stover particles as small as ∼2.3 mm in length are entirely diffusion-limited for acetate extraction, with experimental effectiveness factors calculated to be 0.50 for such processes. Debilitatingly low effectiveness factors of 0.021–0.054 are uncovered for cobs—implying that intraparticle mass transfer resistances may impair observable kinetic measurements of this anatomical fraction by up to 98%. These first-reported quantitative maps of reaction vs. diffusion control link fundamental insights into corn stover anatomy, biopolymer composition, practical size reduction thresholds and their kinetic consequences. These results offer a guidepost for industrial deacetylation reactor design, scale-up and feedstock selection, further establishing deacetylation as a viable biorefinery pretreatment for the conversion of lignocellulosics into value-added fuels and chemicals.
Numerical Study on the Effect of Wall Thickness on the Combustion Characteristics of Non-premixed Hydrogen Micro-jet Flame
Authors: Li Xing , Xie Shengrong , Zhang Jing , Zhao Daiqing , Wang Xiaohan
Published: March 2022

The effect of wall thickness on the combustion characteristics of nonpremixed hydrogen micro-jet flames was studied by two-dimensional numerical computation with a detailed reaction kinetics for the development of hydrogen micro-burner. The hydrogen jet diffusion flames achieved by micro-tubes with the same inner diameter and length but different wall thicknesses were investigated. The heat exchange between solid tube and gases were included in the numerical computation. The distributions of flame temperature, OH radicals, details of thermal interaction, and combustion efficiency were analyzed for comparison. It was found that the temperature distribution, flame shape, and heat recirculation are changed with the fuel flow velocity, and they are affected by wall thickness. The mechanism of wall thickness on the combustion characteristics of hydrogen jet diffusion flame was clarified. Finally, an interesting numerical experiment was conducted to give a further explanation of the effect of heat recirculation and to provide guidance of the thermal management of the micro-burner.
Active Fire Detection Using a Novel Convolutional Neural Network Based on Himawari-8 Satellite Images
Authors: Hong Zhonghua , Tang Zhizhou , Pan Haiyan , Zhang Yuewei , Zheng Zhongsheng , Zhou Ruyan , Ma Zhenling , Zhang Yun , Han Yanling , Wang Jing , Yang Shuhu
Published: March 2022

Fire is an important ecosystem process and has played a complex role in terrestrial ecosystems and the atmosphere environment. Sometimes, wildfires are highly destructive natural disasters. To reduce their destructive impact, wildfires must be detected as soon as possible. However, accurate and timely monitoring of wildfires is a challenging task due to the traditional threshold methods easily be suffered to the false alarms caused by small forest clearings, and the omission error of large fires obscured by thick smoke. Deep learning has the characteristics of strong learning ability, strong adaptability and good portability. At present, few studies have addressed the wildfires detection problem in remote sensing images using deep learning method in a nearly real time way. Therefore, in this research we proposed an active fire detection system using a novel convolutional neural network (FireCNN). FireCNN uses multi-scale convolution and residual acceptance design, which can effectively extract the accurate characteristics of fire spots. The proposed method was tested on dataset which contained 1,823 fire spots and 3,646 non-fire spots. The experimental results demonstrate that the FireCNN is fully capable of wildfire detection, with the accuracy of 35.2% higher than the traditional threshold method. We also examined the influence of different structural designs on the performance of neural network models. The comparison results indicates the proposed method produced the best results.
Trifluralin Impacts Soil Microbial Community and Functions
Authors: Li Shuang , Du Pengqiang , Wu Xiaohu , He Hairong , Zhou Lin , Dong Fengshou , Liu Xingang , Zheng Yongquan
Published: March 2022

A 3-month experiment was designed to research the impact of trifluralin (TFL) on soil microbial communities and functions under the condition of greenhouse. In this work, silty loam from Langfang was treated with three doses of TFL (1,260, 12,600, and 126,000 g ha−1) and incubated for 90 days. The half-lives of TFL were 15–23 days in all cases. The bacterial and fungal diversities and community structures were impacted by TFL. The bacterial functions of chemoheterotrophy and sulfur oxidation were decreased shortly, but the hydrocarbon degradation ability was significantly increased in the results of functional annotation of prokaryotic taxa (FAPROTAX). For the predicted results of Tax4Fun, amino acid (arginine and proline) metabolism and ABC transporter were decreased significantly, while nitrogen metabolism and ribosome translation were significantly increased. In conclusion, this work aids us to understand the risk of TFL in soil more comprehensively.
Alfalfa (Medicago Sativa L.): Genotypic Diversity and Transgenic Alfalfa for Phytoremediation
Authors: Tussipkan Dilnur , Manabayeva Shuga A.
Published: March 2022

Soil contamination caused by industrial and agricultural activities is an environmental problem that poses a serious risk to human health and the ecosystem. Persistent organic pollutants (POPs) are organic chemicals that persist in the environment for long periods because of their high resistance to photolytic, chemical, and biological degradation. Besides POPs, high concentrations of non-essential heavy metals and metalloids, such as arsenic, cadmium, and lead, are increasingly becoming a problem worldwide. Remediation strategies for organic and inorganic pollutants in the environment have received global attention. For organic or inorganic contaminants, phytoremediation is the strategy of choice because of a green technology that uses plants and solar energy to clean hyper-accumulated toxic pollutants from the environment. Some plant species have a high capacity to grow and survive in elevated levels of contaminants. With a long cultivation history and adaptability to a wide range of territories, alfalfa has not only widely been used for animal feed and a medicinal herb but is also an ideal natural resource and model plant for remediation of contaminated soils, offering a variety of elite characteristics. This review provides, firstly, abundant genomic information on the genetic diversity and population structure of alfalfa. Secondly, we focused on the transgenic alfalfa plants for enhanced phytoremediation of POPs, such as atrazine, polychlorinated biphenyl (PCB), and trichloroethylene (TCE), as well as phytoremediation of petroleum and heavy metals. Thirdly, the future perspective of enhancement of phytoremediation efficiency was discussed in depth. This review is intended to provide a comprehensive overview of the phytoremediation capabilities of transgenic alfalfa plants, presenting fundamental information for future research studies for enhancing phytoremediation efficiency.
In the Hot Seat: Behavioral Change and Old-Growth Trees Underpin an Australian Songbird’s Response to Extreme Heat
Authors: Sharpe Lynda L. , Prober Suzanne M. , Gardner Janet L.
Published: March 2022

Anthropogenic climate change is increasing the frequency and intensity of heat waves, thereby threatening biodiversity, particularly in hot, arid regions. Although free-ranging endotherms can use behavioral thermoregulation to contend with heat, it remains unclear to what degree behavior can buffer organisms from unprecedented temperatures. Thermoregulatory behaviors that facilitate dry heat loss during moderate heat become maladaptive once environmental temperatures exceed body temperature. Additionally, the costs associated with behavioral thermoregulation may become untenable with greater heat exposure, and effective cooling may be dependent upon the availability of specific microhabitats. Only by understanding the interplay of these three elements (responses, costs and habitat) can we hope to accurately predict how heat waves will impact wild endotherms. We quantified the thermoregulatory behaviors and microhabitat use of a small passerine, the Jacky Winter (Microeca fascinans), in the mallee woodland of SE Australia. At this location, the annual number of days ≥ 42°C has doubled over the last 25 years. The birds’ broad repertoire of behavioral responses to heat was nuanced and responsive to environmental conditions, but was associated with reduced foraging effort and increased foraging costs, accounting for the loss of body condition that occurs at high temperatures. By measuring microsite surface temperatures, which varied by up to 35°C at air temperatures > 44°C, we found that leaf-litter coverage and tree size were positively correlated with thermal buffering. Large mallee eucalypts were critical to the birds’ response to very high temperatures, providing high perches that facilitated convective cooling, the coolest tree-base temperatures and the greatest prevalence of tree-base crevices or hollows that were used as refuges at air temperatures > 38°C. Tree-base hollows, found only in large mallees, were cooler than all other microsites, averaging 2°C cooler than air temperature. Despite the plasticity of the birds’ response to heat, 29% of our habituated study population died when air temperatures reached a record-breaking 49°C, demonstrating the limits of behavioral thermoregulation and the potential vulnerability of organisms to climate change.
Taming Trees, Shaping Forests, and Managing Woodlands as Resources for Understanding Past Societies. Contributions and Current Limits of Dendro-Anthracology and Anthraco-Isotopy
Authors: Dufraisse Alexa , Coubray Sylvie , Picornell-Gelabert Llorenç , Alcolea Marta , Girardclos Olivier , Delarue Frédéric , Nguyen Tu Thanh-Thuy
Published: March 2022

In many societies, livelihood strategies are based on a combination of economic strategies, including natural resources such as trees for wood, leaves, and fruits. Archeological wood charcoals are residues of human activity related to fire. They provide evidence of fuelwood and, in some contexts, timber, handcraft activities, and fruit production. They represent a detailed record of the way ancient woodlands were exploited. However, charcoal analyses are often confined to the study of taxa and their relative frequency, and socio-economic interpretations are thus limited. In the last two decades, dendro-anthracological studies have been developed. Tree-ring widths, radius of curvature, and carbon isotope contents are increasingly used as indicators of wood gathering practices, woodland management and climate. Nevertheless, in the absence of standards, measurement procedures and data processing are very diverse. The challenge for archeological charcoal analyses is thus to improve analytical tools, especially on dendro-anthracological and isotopic aspects, in order to improve the interpretation of archeological assemblages and advance the discipline. As an example, we present a new approach for taxa growing in Western Europe combining (i) different dendro-anthracological parameters, (ii) an anthraco-typological approach based on modern-day wood stands, (iii) identification of anatomical signatures revealing particular forestry practices, and (iv) stable carbon isotopes. This opens the discussion on methodological perspectives and the associated scientific questions focusing on woodland exploitation and climate, and on the interest of a systemic approach for the analysis of charcoal in archeological contexts.
Riverscape Genomics Clarifies Neutral and Adaptive Evolution in an Amazonian Characin Fish (Triportheus albus)
Authors: Hay Abbie C. , Sandoval-Castillo Jonathan , Cooke Georgina M. , Chao Ning L. , Beheregaray Luciano B.
Published: March 2022

Understanding the role of natural selection in the evolution of wild populations is challenging due to the spatial complexity of natural systems. The richest diversity of freshwater fishes in the world is found in the Amazon Basin, a system where marked hydrochemical differences exist at the interface of major rivers with distinct “water colors” (i.e., black, white, and clear water). We hypothesize that divergent natural selection associated with these “aquatic ecotones” influences population-level adaptive divergence in the non-migratory Amazonian fish fauna. This hypothesis was tested using a landscape genomics framework to compare the relative contribution of environmental and spatial factors to the evolutionary divergence of the Amazonian characin fishTriportheus albus. The framework was based on spatial data,in situhydrochemical measurements, and 15,251 filtered SNPs (single nucleotide polymorphisms) forT. albussampled from three major Amazonian rivers. Gradient Forest, redundancy analysis (RDA) and BayPass analyses were used to test for signals of natural selection, and model-based and model-free approaches were used to evaluate neutral population differentiation. After controlling for a signal of neutral hierarchical structure which was consistent with the expectations for a dendritic system, variation in turbidity and pH were key factors contributing to adaptive divergence. Variation in genes involved in acid-sensitive ion transport pathways and light-sensitive photoreceptor pathways was strongly associated with pH and turbidity variability. This study improves our understanding of how natural selection and neutral evolution impact on the distribution of aquatic biodiversity from the understudied and ecologically complex Amazonia.
High Exploration Behavior of Termite Propagules Can Enhance Invasiveness
Authors: Pailler Louis , Matte Arthur , Groseiller Alexis , Eyer Pierre-André , Ruhland Fanny , Lucas Christophe
Published: March 2022

Social life is usually associated with enhanced propagule pressure, which increases the chance of introducing several individuals during a single introduction event. Social insects are therefore among the most successful invasive species, benefiting from rapid establishment and increased foundation success in new habitats. In termites, propagule pressure may also be increased by the development of reproductive individuals from a small group of foraging workers. This suggests that enhanced exploration activity may increase propagule pressure through an elevated chance of transporting isolated groups of foragers. Here, we analyzed the exploration behavior of three termite species of the Reticulitermes genus, comparing the invasive species Reticulitermes flavipes (testing both native and introduced populations) to the native species Reticulitermes grassei and Reticulitermes lucifugus. Different features representative of the exploration capacity were measured during 48 h, including: the number of tunnels, the length of tunnels, the number of foragers, and the interindividual distance of foragers in a straight line or through tunnels. Our results show that compared to the native Reticulitermes species, R. flavipes foragers from both populations dug more tunnels with a longer total length, and individuals were more spatially dispersed and covered a larger exploration zone. These findings suggest that the enhanced exploration ability of R. flavipes may have played a role in its invasion success, by increasing its propagule pressure through a higher chance of human-mediated transport. In addition, the absence of differences between the native and introduced populations of R. flavipes suggests that the exploration behaviors facilitating the worldwide invasion of this species originated in its native range.
Current Perspective Concerning the Potential Value of Chloroplast Lipidome in Assessing Moss Response to Abiotic Stress During Boreal Forest Regeneration
Authors: Callahan Grace , Zhu Xinbiao , Thomas Raymond H.
Published: March 2022

Mosses play important roles in the regulation of environmental or metabolic conditions in boreal forest ecosystems. Sphagnum and feathermoss are the two main bryophytes found in boreal forest understory. Clearcut harvesting (common method of boreal forest regeneration) can expose understory vegetation to water and light stress. Water and light stress can significantly impact moss growth during boreal forest regeneration. Analysis of the membrane lipidome, photosynthetic parameters and pigments can be very effective in assessing moss response to abiotic stress following clearcut harvesting. Although lipidomics is commonly used in environmental stress assessment of plants, application to assess moss lipidome and stress response is very limited. Bryophytes may alter or remodel their membrane lipid composition to acclimate or adapt to environmental stressors. Thus, this perspective provides insights into how moss lipids may serve as useful biomarkers of moss stress response or adaptation to environmental stress during boreal forest regeneration following clearcut harvesting.
Phenotype Heterogeneity and the Association Between Visual Acuity and Outer Retinal Structure in a Cohort of Chinese X-Linked Juvenile Retinoschisis Patients
Authors: Guo Qingge , Li Ya , Li Jiarui , You Ya , Liu Changgeng , Chen Kang , Li Shuyin , Lei Bo
Published: March 2022

Purpose: X-linked juvenile retinoschisis (XLRS), caused by mutations in the RS1 gene, is an X-linked recessive inherited disease that typically involves both eyes in the first 2 decades of life. Recently, the phenotype heterogeneity of this condition has drawn increasing attention. We reported various phenotypes caused by RS1 gene mutations in eleven patients from ten Chinese families.

Methods: Data on the medical history of the patients from ten Han families of central China were collected. Ophthalmic examinations including best-corrected visual acuity (BCVA), fundus photography, ultra-wide-angle sweep source optical coherence tomography (SS-OCT), and electroretinography (ERG) were performed. Adaptive optics (AO) images were acquired to evaluate the cone photoreceptor mosaic when applicable. Venous blood of the probands and their family members was collected, and DNA was subjected to sequencing based on next-generation sequencing with a custom-designed targeted gene panel PS400 for inherited retinal diseases. Validation was performed by Sanger sequencing and cosegregation. Pathogenicity was determined in accordance with the American College of Medical Genetics and Genomics (ACMG) guidelines.

Results: Ten RS1 mutations, including eight missense mutations and two terminator mutations, were identified in 10 XLRS families. c.657C > A (p.C219X) was a novel mutation in this cohort. These patients showed a variety of clinical phenotypes, including fovea schisis, bullous retinoschisis, and macular or peripheral atrophy. Fifteen eyes of eight patients exhibited macular retinoschisis, and twelve eyes of seven patients exhibited peripheral retinoschisis. In addition, three patients showed asymmetrical fundus manifestations. Of importance, three patients without macular retinoschisis were misdiagnosed until genetic testing results were obtained. AO showed a decrease in cone density and loss of regularity in the cystic schisis macular of XLRS. Furthermore, the BCVA was associated with the photoreceptor inner segment and outer segment (IS/OS) thickness.

Conclusion: With complicated clinical manifestations, a considerable portion of XLRS patients may present various phenotypes. It should be noted that asymmetry in fundus appearance in both eyes could lead to misdiagnosis easily. Thus, genetic testing is crucial for making a final diagnosis in those patients who are suspected of having amblyopia, bilateral or unilateral macular atrophy, or conditions presenting an asymmetric fundus appearance. In addition, the residual cone photoreceptor structure was critical for the maintenance of useful vision.
Spinocerebellar Ataxia 36: From Mutations Toward Therapies
Authors: Lopez Samuel , He Fang
Published: March 2022

Spinocerebellar ataxia 36 (SCA36) is a type of repeat expansion-related neurodegenerative disorder identified a decade ago. Like other SCAs, the symptoms of SCA36 include the loss of coordination like gait ataxia and eye movement problems, but motor neuron-related symptoms like muscular atrophy are also present in those patients. The disease is caused by a GGCCTG hexanucleotide repeat expansion in the gene Nop56, and the demographic incidence map showed that this disease was more common among the ethnic groups of Japanese and Spanish descendants. Although the exact mechanisms are still under investigation, the present evidence supports that the expanded repeats may undergo repeat expansion-related non-AUG-initiated translation, and these dipeptide repeat products could be one of the important ways to lead to pathogenesis. Such studies may help develop potential treatments for this disease.
Exploring the Genomic Patterns in Human and Mouse Cerebellums Via Single-Cell Sequencing and Machine Learning Method
Authors: Li ZhanDong , Wang Deling , Liao HuiPing , Zhang ShiQi , Guo Wei , Chen Lei , Lu Lin , Huang Tao , Cai Yu-Dong
Published: March 2022

In mammals, the cerebellum plays an important role in movement control. Cellular research reveals that the cerebellum involves a variety of sub-cell types, including Golgi, granule, interneuron, and unipolar brush cells. The functional characteristics of cerebellar cells exhibit considerable differences among diverse mammalian species, reflecting a potential development and evolution of nervous system. In this study, we aimed to recognize the transcriptional differences between human and mouse cerebellum in four cerebellar sub-cell types by using single-cell sequencing data and machine learning methods. A total of 321,387 single-cell sequencing data were used. The 321,387 cells included 4 cell types, i.e., Golgi (5,048, 1.57%), granule (250,307, 77.88%), interneuron (60,526, 18.83%), and unipolar brush (5,506, 1.72%) cells. Our results showed that by using gene expression profiles as features, the optimal classification model could achieve very high even perfect performance for Golgi, granule, interneuron, and unipolar brush cells, respectively, suggesting a remarkable difference between the genomic profiles of human and mouse. Furthermore, a group of related genes and rules contributing to the classification was identified, which might provide helpful information for deepening the understanding of cerebellar cell heterogeneity and evolution.
A Spontaneous H2-Aa Point Mutation Impairs MHC II Synthesis and CD4+ T-Cell Development in Mice
Authors: Zhao Yun , Xiong Juan , Chen Hai-Xia , Zhang Min , Zhou Li-Na , Wu Yin-Fang , Li Wei-Jie , Fei Xia , Li Fei , Zhu Chen , Li Wen , Ying Song-Min , Wang Lie , Chen Zhi-Hua , Shen Hua-Hao
Published: March 2022

Major histocompatibility complex class II (MHC II) is an essential immune regulatory molecule that plays an important role in antigen presentation and T-cell development. Abnormal MHC II expression can lead to immunodeficiency, clinically termed as type II bare lymphocyte syndrome (BLS), which usually results from mutations in the MHC II transactivator (CIITA) and other coactivators. Here, we present a new paradigm for MHC II deficiency in mice that involves a spontaneous point mutation on H2-Aa. A significantly reduced population of CD4+ T cells was observed in mice obtained from the long-term homozygous breeding of autophagy-related gene microtubule-associated protein 1 light chain 3 β (Map1lc3b, Lc3b) knockout mice; this phenotype was not attributed to the original knocked-out gene. MHC II expression was generally reduced, together with a marked deficiency of H2-Aa in the immune cells of these mice. Using cDNA and DNA sequencing, a spontaneous H2-Aa point mutation that led to false pre-mRNA splicing, deletion of eight bases in the mRNA, and protein frameshift was identified in these mice. These findings led to the discovery of a new type of spontaneous MHC II deficiency and provided a new paradigm to explain type II BLS in mice.
Effect of LncRNA XIST on Immune Cells of Primary Biliary Cholangitis
Authors: She Chunhui , Yang Yifei , Zang Bo , Yao Yuan , Liu Qixuan , Leung Patrick S. C. , Liu Bin
Published: March 2022

Objective

Primary biliary cholangitis (PBC) is an autoimmune disease with significant gender difference. X chromosome inactivation (XCI) plays important roles in susceptibility to diseases between genders. This work focuses on the differences of LncRNA XIST in several defined immune cells populations as well as its effects on naive CD4+ T cells proliferation and differentiation in patients with PBC.

Methods

NKs, B cells, CD4+ T, and CD8+ T cells were separated by MicroBeads from peripheral blood mononuclear cells (PBMCs) of PBC patients and healthy control (HC). The expression levels of LncRNA XIST in these immune cells were quantified by qRT-PCR and their subcellular localized analyzed by FISH. Lentivirus were used to interfere the expression of LncRNA XIST, and CCK8 was used to detect the proliferation of naive CD4+ T cells in PBC patients. Finally, naive CD4+ T cells were co-cultured with the bile duct epithelial cells (BECs), and the effects of LncRNA XIST on the typing of naive CD4+ T cells and related cytokines were determined by qRT-PCR and ELISA.

Results

The expression levels of LncRNA XIST in NKs and CD4+ T cells in PBC patients were significantly higher than those in HC, and were primarily located at the nucleus. LncRNA XIST could promote the proliferation of naive CD4+ T cells. When naive CD4+ T cells were co-cultured with BECs, the expressions of IFN-γ, IL-17, T-bet and RORγt in naive CD4+ T cells were decreased.

Conclusion

LncRNA XIST was associated with lymphocyte abnormalities in patients with PBC. The high expression of LncRNA XIST could stimulate proliferation and differentiation of naive CD4+ T cells, which might account for the high occurrence of PBC in female.
Emerging Role of Dipeptidyl Peptidase-4 in Autoimmune Disease
Authors: Huang Jie , Liu Xinxin , Wei Yingying , Li Xinlu , Gao Shupei , Dong Lingli , Rao Xiaoquan , Zhong Jixin
Published: March 2022

Dipeptidyl-peptidase IV (DPP4), originally identified as an aminopeptidase in 1960s, is an ubiquitously expressed protease presented as either a membrane-bound or soluble form. DPP4 cleaves dipeptide off from the N-terminal of its substrates, altering the bioactivity of its substrates. Subsequent studies reveal that DPP4 is also involved in various cellular processes by directly binding to a number of ligands, including adenosine deaminase, CD45, fibronectin, plasminogen, and caveolin-1. In recent years, many novel functions of DPP4, such as promoting fibrosis and mediating virus entry, have been discovered. Due to its implication in fibrotic response and immunoregulation, increasing studies are focusing on the potential role of DPP4 in inflammatory disorders. As a moonlighting protein, DPP4 possesses multiple functions in different types of cells, including both enzymatic and non-enzymatic functions. However, most of the review articles on the role of DPP4 in autoimmune disease were focused on the association between DPP4 enzymatic inhibitors and the risk of autoimmune disease. An updated comprehensive summary of DPP4’s immunoregulatory actions including both enzymatic dependent and independent functions is needed. In this article, we will review the recent advances of DPP4 in immune regulation and autoimmune rheumatic disease.
Inflammation and Oxidative Stress in the Context of Extracorporeal Cardiac and Pulmonary Support
Authors: Hatami Sanaz , Hefler Joshua , Freed Darren H.
Published: March 2022

Extracorporeal circulation (ECC) systems, including cardiopulmonary bypass, and extracorporeal membrane oxygenation have been an irreplaceable part of the cardiothoracic surgeries, and treatment of critically ill patients with respiratory and/or cardiac failure for more than half a century. During the recent decades, the concept of extracorporeal circulation has been extended to isolated machine perfusion of the donor organ including thoracic organs (ex-situorgan perfusion, ESOP) as a method for dynamic, semi-physiologic preservation, and potential improvement of the donor organs. The extracorporeal life support systems (ECLS) have been lifesaving and facilitating complex cardiothoracic surgeries, and the ESOP technology has the potential to increase the number of the transplantable donor organs, and to improve the outcomes of transplantation. However, these artificial circulation systems in general have been associated with activation of the inflammatory and oxidative stress responses in patients and/or in the exposed tissues and organs. The activation of these responses can negatively affect patient outcomes in ECLS, and may as well jeopardize the reliability of the organ viability assessment, and the outcomes of thoracic organ preservation and transplantation in ESOP. Both ECLS and ESOP consist of artificial circuit materials and components, which play a key role in the induction of these responses. However, while ECLS can lead to systemic inflammatory and oxidative stress responses negatively affecting various organs/systems of the body, in ESOP, the absence of the organs that play an important role in oxidant scavenging/antioxidative replenishment of the body, such as liver, may make the perfused organ more susceptible to inflammation and oxidative stress during extracorporeal circulation. In the present manuscript, we will review the activation of the inflammatory and oxidative stress responses during ECLP and ESOP, mechanisms involved, clinical implications, and the interventions for attenuating these responses in ECC.
The α7 Nicotinic Acetylcholine Receptor Agonist GTS-21 Improves Bacterial Clearance via Regulation of Monocyte Recruitment and Activity in Polymicrobial Septic Peritonitis
Authors: Hu Jian-nan , Liu Ying , Liu Shu-chang , Zhang Teng , Chen Gui-bing , Zhao Jie , Ma Tao
Published: March 2022

The cholinergic anti-inflammatory pathway has been identified as an effective pathway to modify inflammatory responses. Here, we verified that delayed administration with a selective α7nAChR agonist GTS-21 enables a more efficient elimination of the offending pathogens, diminished inflammatory response and organ injury, and improved survival rates in the polymicrobial septic peritonitis model. We illustrated that the improved bacterial clearance upon GTS-21 stimulation was accompanied by enhanced recruitment of monocytes into the peritoneal cavity and simultaneously increased phagocytic activity and iNOS expression of these recruited monocytes. Mechanically, splenectomy prior to administration of GTS-21 attenuated the recruitment of monocytes into the peritoneal cavity and abolished the protective benefits of GTS-21 treatment. Meanwhile, GTS-21 administration accelerates the deployment of splenic monocytes during septic peritonitis. Collectively, these data suggested that appropriate selective pharmacological α7nAChR activation promotes monocytes trafficking in a spleen-dependent manner and upregulates the antibacterial activity of recruited monocytes during septic peritonitis, which may be utilized as a promising therapeutic modality for patients suffering from septic peritonitis.
Persistence of Immune Response in Health Care Workers After Two Doses BNT162b2 in a Longitudinal Observational Study
Authors: Herzberg Jonas , Fischer Bastian , Lindenkamp Christopher , Becher Heiko , Becker Ann-Kristin , Honarpisheh Human , Guraya Salman Yousuf , Strate Tim , Knabbe Cornelius
Published: March 2022

Background

The mRNA-based vaccine BNT162b2 of BioNTech/Pfizer has shown high efficacy against SARS-CoV-2 infection and a severe course of the COVID-19 disease. However, little is known about the long-term durability of the induced immune response resulting from the vaccination.

Methods

In a longitudinal observational study in employees at a German hospital we compared the humoral and cellular immune response in 184 participants after two doses of the BioNTech/Pfizer vaccine (BNT162b2) with a mid-term follow-up after 9 months. Anti-SARS-CoV-2 binding antibodies were determined using both a quantitative and a semi-quantitative assay. For a qualitative assessment of the humoral immune response, we additionally measured neutralizing antibodies. Cellular immune response was evaluated by measuring Interferon-gamma release after stimulating blood-cells with SARS-CoV-2 specific peptides using a commercial assay.

Results

In the first analysis, a 100% humoral response rate was described after two doses of BNT162b2 vaccine with a mean antibody ratio of 8.01 ± 1.00. 9 months after the second dose of BNT162b2, serological testing showed a significant decreased mean antibody ratio of 3.84 ± 1.69 (p < 0.001). Neutralizing antibodies were still detectable in 96% of all participants, showing an average binding inhibition value of 68.20% ± 18.87%. Older age (p < 0.001) and obesity (p = 0.01) had a negative effect on the antibody persistence. SARS-CoV-2 specific cellular immune response was proven in 75% of individuals (mean Interferon-gamma release: 579.68 mlU/ml ± 705.56 mlU/ml).

Conclusion

Our data shows a declining immune response 9 months after the second dose of BNT162b2, supporting the potentially beneficial effect of booster vaccinations, the negative effect of obesity and age stresses the need of booster doses especially in these groups.
Neutralizing Antibody Activity Against the B.1.617.2 (delta) Variant Before and After a Third BNT162b2 Vaccine Dose in Hemodialysis Patients
Authors: Benning Louise , Klein Katrin , Morath Christian , Bartenschlager Marie , Kim Heeyoung , Buylaert Mirabel , Reineke Marvin , Töllner Maximilian , Nusshag Christian , Kälble Florian , Reichel Paula , Schnitzler Paul , Zeier Martin , Süsal Caner , Bartenschlager Ralf , Schaier Matthias , Speer Claudius
Published: March 2022

Hemodialysis patients are at high risk for severe COVID-19, and impaired seroconversion rates have been demonstrated after COVID-19 vaccination. Humoral immunity wanes over time and variants of concern with immune escape are posing an increasing threat. Little is known about protection against the B.1.617.2 (delta) variant of concern in hemodialysis patients before and after third vaccination. We determined anti-S1 IgG, surrogate neutralizing, and IgG antibodies against different SARS-CoV-2 epitopes in 84 hemodialysis patients directly before and three weeks after a third vaccine dose with BNT162b2. Third vaccination was performed after a median (IQR) of 119 (109–165) days after second vaccination. In addition, neutralizing activity against the B.1.617.2 (delta) variant was assessed in 31 seroconverted hemodialysis patients before and after third vaccination. Triple seropositivity for anti-S1 IgG, surrogate neutralizing, and anti-RBD antibodies increased from 31/84 (37%) dialysis patients after second to 80/84 (95%) after third vaccination. Neutralizing activity against the B.1.617.2 (delta) variant was significantly higher after third vaccination with a median (IQR) ID50 of 1:320 (1:160–1:1280) compared with 1:20 (0–1:40) before a third vaccine dose (P<0.001). The anti-S1 IgG index showed the strongest correlation with the ID50 against the B.1.617.2 (delta) variant determined by live virus neutralization (r=0.91). We demonstrate low neutralizing activity against the B.1.617.2 (delta) variant in dialysis patients four months after standard two-dose vaccination but a substantial increase after a third vaccine dose. Booster vaccination(s) should be considered earlier than 6 months after the second vaccine dose in immunocompromised individuals.