bluuebunny/crossref_metadata_2025 huggingface dataset:
Expanding the Phenotypic and Genotypic Spectrum of ARFGEF1-Related Neurodevelopmental Disorder
Authors: Xu Lu , Zhou Youfeng , Ren Xiaoyan , Xu Chenlu , Ren Rongna , Yan Xuke , Li Xuelian , Yang Huimin , Xu Xuebin , Guo Xiaotong , Sheng Guoxia , Hua Yi , Yuan Zhefeng , Wang Shugang , Gu Weiyue , Sun Dan , Gao Feng
Published: June 2022

Mono-allelic loss-of-function variants in ARFGEF1 have recently caused a developmental delay, intellectual disability, and epilepsy, with varying clinical expressivity. However, given the clinical heterogeneity and low-penetrance mutations of ARFGEF1-related neurodevelopmental disorder, the robustness of the gene-disease association requires additional evidence. In this study, five novel heterozygous ARFGEF1 variants were identified in five unrelated pediatric patients with neurodevelopmental disorders, including one missense change (c.3539T>G), two canonical splice site variants (c.917-1G>T, c.2850+2T>A), and two frameshift (c.2923_c.2924delCT, c.4951delG) mutations resulting in truncation of ARFGEF1. The pathogenic/likely pathogenic variants presented here will be highly beneficial to patients undergoing genetic testing in the future by providing an expanded reference list of disease-causing variants.
Functional Liver Imaging in Radiotherapy for Liver Cancer: A Systematic Review and Meta-Analysis
Authors: Zhou Pi-Xiao , Zhang Ying , Zhang Quan-Bin , Zhang Guo-Qian , Yu Hui , Zhang Shu-Xu
Published: June 2022

Backgrounds

Functional liver imaging can identify functional liver distribution heterogeneity and integrate it into radiotherapy planning. The feasibility and clinical benefit of functional liver-sparing radiotherapy planning are currently unknown.

Methods

A comprehensive search of several primary databases was performed to identify studies that met the inclusion criteria. The primary objective of this study was to evaluate the dosimetric and clinical benefits of functional liver-sparing planning radiotherapy. Secondary objectives were to assess the ability of functional imaging to predict the risk of radiation-induced liver toxicity (RILT), and the dose-response relationship after radiotherapy.

Results

A total of 20 publications were enrolled in descriptive tables and meta-analysis. The meta-analysis found that mean functional liver dose (f-MLD) was reduced by 1.0 Gy [95%CI: (-0.13, 2.13)], standard mean differences (SMD) of functional liver volume receiving ≥20 Gy (fV20) decreased by 0.25 [95%CI: (-0.14, 0.65)] when planning was optimized to sparing functional liver (P >0.05). Seven clinical prospective studies reported functional liver-sparing planning-guided radiotherapy leads to a low incidence of RILD, and the single rate meta-analysis showed that the RILD (defined as CTP score increase ≥2) incidence was 0.04 [95%CI: (0.00, 0.11), P <0.05]. Four studies showed that functional liver imaging had a higher value to predict RILT than conventional anatomical CT. Four studies established dose-response relationships in functional liver imaging after radiotherapy.

Conclusion

Although functional imaging modalities and definitions are heterogeneous between studies, but incorporation into radiotherapy procedures for liver cancer patients may provide clinical benefits. Further validation in randomized clinical trials will be required in the future.
Revisiting the Tenascins: Exploitable as Cancer Targets?
Authors: Tucker Richard P. , Degen Martin
Published: June 2022

For their full manifestation, tumors require support from the surrounding tumor microenvironment (TME), which includes a specific extracellular matrix (ECM), vasculature, and a variety of non-malignant host cells. Together, these components form a tumor-permissive niche that significantly differs from physiological conditions. While the TME helps to promote tumor progression, its special composition also provides potential targets for anti-cancer therapy. Targeting tumor-specific ECM molecules and stromal cells or disrupting aberrant mesenchyme-cancer communications might normalize the TME and improve cancer treatment outcome. The tenascins are a family of large, multifunctional extracellular glycoproteins consisting of four members. Although each have been described to be expressed in the ECM surrounding cancer cells, tenascin-C and tenascin-W are currently the most promising candidates for exploitability and clinical use as they are highly expressed in various tumor stroma with relatively low abundance in healthy tissues. Here, we review what is known about expression of all four tenascin family members in tumors, followed by a more thorough discussion on tenascin-C and tenascin-W focusing on their oncogenic functions and their potential as diagnostic and/or targetable molecules for anti-cancer treatment purposes.
CD44 In Sarcomas: A Comprehensive Review and Future Perspectives
Authors: Fernández-Tabanera Enrique , Melero-Fernández de Mera Raquel M. , Alonso Javier
Published: June 2022

It is widely accepted that the tumor microenvironment, particularly the extracellular matrix, plays an essential role in the development of tumors through the interaction with specific protein-membrane receptors. One of the most relevant proteins in this context is the transmembrane protein CD44. The role of CD44 in tumor progression, invasion, and metastasis has been well established in many cancers, although a comprehensive review concerning its role in sarcomas has not been published. CD44 is overexpressed in most sarcomas and several in vitro and in vivo experiments have shown a direct effect on tumor progression, dissemination, and drug resistance. Moreover, CD44 has been revealed as a useful marker for prognostic and diagnostic (CD44v6 isoform) in osteosarcoma. Besides, some innovative treatments such as HA-functionalized liposomes therapy have become an excellent CD44-mediated intracellular delivery system for osteosarcoma. Unfortunately, the reduced number of studies deciphering the prognostic/diagnostic value of CD44 in other sarcoma subgroups, neither than osteosarcoma, in addition to the low number of patients involved in those studies, have produced inconclusive results. In this review, we have gone through the information available on the role of CD44 in the development, maintenance, and progression of sarcomas, analyzing their implications at the prognostic, therapeutic, and mechanistic levels. Moreover, we illustrate how research involving the specific role of CD44 in the different sarcoma subgroups could suppose a chance to advance towards a more innovative perspective for novel therapies and future clinical trials.
Small Molecule Inhibitors in Adult High-Grade Glioma: From the Past to the Future
Authors: Huang Wenda , Hao Zhaonian , Mao Feng , Guo Dongsheng
Published: June 2022

Glioblastoma is the most common primary malignant tumor in the brain and has a dismal prognosis despite patients accepting standard therapies. Alternation of genes and deregulation of proteins, such as receptor tyrosine kinase, PI3K/Akt, PKC, Ras/Raf/MEK, histone deacetylases, poly (ADP-ribose) polymerase (PARP), CDK4/6, branched-chain amino acid transaminase 1 (BCAT1), and Isocitrate dehydrogenase (IDH), play pivotal roles in the pathogenesis and progression of glioma. Simultaneously, the abnormalities change the cellular biological behavior and microenvironment of tumor cells. The differences between tumor cells and normal tissue become the vulnerability of tumor, which can be taken advantage of using targeted therapies. Small molecule inhibitors, as an important part of modern treatment for cancers, have shown significant efficacy in hematologic cancers and some solid tumors. To date, in glioblastoma, there have been more than 200 clinical trials completed or ongoing in which trial designers used small molecules as monotherapy or combination regimens to correct the abnormalities. In this review, we summarize the dysfunctional molecular mechanisms and highlight the outcomes of relevant clinical trials associated with small-molecule targeted therapies. Based on the outcomes, the main findings were that small-molecule inhibitors did not bring more benefit to newly diagnosed glioblastoma, but the clinical studies involving progressive glioblastoma usually claimed “noninferiority” compared with historical results. However, as to the clinical inferiority trial, similar dosing regimens should be avoided in future clinical trials.
Changes in the Transcriptome and Chromatin Landscape in BRAFi-Resistant Melanoma Cells
Authors: Reddi Kiran Kumar , Guruvaiah Praveen , Edwards Yvonne J. K. , Gupta Romi
Published: June 2022

Metastatic and drug-resistant melanoma are leading causes of skin cancer–associated death. Mitogen-associated protein kinase (MAPK) pathway inhibitors and immunotherapies have provided substantial benefits to patients with melanoma. However, long-term therapeutic efficacy has been limited due to emergence of treatment resistance. Despite the identification of several molecular mechanisms underlying the development of resistant phenotypes, significant progress has still not been made toward the effective treatment of drug-resistant melanoma. Therefore, the identification of new targets and mechanisms driving drug resistance in melanoma represents an unmet medical need. In this study, we performed unbiased RNA-sequencing (RNA-seq) and assay for transposase-accessible chromatin with sequencing (ATAC-seq) to identify new targets and mechanisms that drive resistance to MAPK pathway inhibitors targeting BRAF and MAPK kinase (MEK) in BRAF-mutant melanoma cells. An integrative analysis of ATAC-seq combined with RNA-seq showed that global changes in chromatin accessibility affected the mRNA expression levels of several known and novel genes, which consequently modulated multiple oncogenic signaling pathways to promote resistance to MAPK pathway inhibitors in melanoma cells. Many of these genes were also associated with prognosis predictions in melanoma patients. This study resulted in the identification of new genes and signaling pathways that might be targeted to treat MEK or BRAF inhibitors resistant melanoma patients. The present study applied new and advanced approaches to identify unique changes in chromatin accessibility regions that modulate gene expression associated with pathways to promote the development of resistance to MAPK pathway inhibitors.
Galloway–Mowat Syndrome Type 3 Caused by OSGEP Gene Variants: A Case Report and Literature Review
Authors: Xu Suhua , Hu Lan , Yang Lin , Wu Bingbing , Cao Yun , Zhang Rong , Xu Xin , Ma Haiyan , Zhou Wenhao , Cheng Guoqiang , Zhang Peng , Hu Liyuan
Published: June 2022

Background

Galloway–Mowat syndrome type 3 (GAMOS3) is an extremely rare and severe autosomal-recessive disease characterized by early-onset nephrotic syndrome (NS), microcephaly and neurological impairment. Reported GAMOS cases have gradually increased since pathogenic OSGEP variants were identified as the aetiology in 2017.

Methods

Using whole-exome sequencing and a data analysis process established by Children's Hospital of Fudan University, the clinical and molecular features of 3 infants with OSGEP mutations were summarized. Literature regarding the clinical features of GAMOS3 caused by OSGEP variants was reviewed.

Results

Thirty-seven individuals (3 from this study) from 34 families were included. Twenty-two different OSGEP variants were identified. The c.740G>A (p.Arg247Gln) variant in OSGEP was detected in 15 families (44%), all from Asia. Most affected individuals (including patients I and II in this study) showed a typical phenotype, including microcephaly (92%) with brain anomalies (97%), developmental delay (81%), congenital NS (54%), and craniofacial (94%) and skeletal dysmorphism (84%). Renal manifestations varied from proteinuria (94%, median onset = 1.5 months) to NS (83%) and end-stage renal disease (48%, 11 months) during follow-up. Patients with congenital NS had a lower survival probability (median survival time = 3 months) than those without congenital NS (78 months) (P < 0.01, log-rank test).

Conclusion

GAMOS3 is a progressive renal-neurological syndrome with a poor prognosis, especially with congenital NS. Microcephaly with dysmorphic features are vital clues to further evaluate renal impairment and brain anomalies. Timely molecular diagnosis is crucial for clinical decision-making, appropriate treatment and genetic counselling.
Neuroprotective Effects of Oligosaccharides in Rehmanniae Radix on Transgenic Caenorhabditis elegans Models for Alzheimer’s Disease
Authors: Kang Nianxin , Luan Yage , Jiang Yu , Cheng Wenhao , Liu Yongjian , Su Zhijun , Liu Yonggang , Tan Peng
Published: June 2022

Rehmanniae Radix (RR, the dried tuberous roots of Rehmannia glutinosa (Gaertn.) DC.) is an important traditional Chinese medicine distributed in Henan, Hebei, Inner Mongolia, and Northeast in China. RR is frequently used to treat diabetes mellitus, cardiovascular disease, osteoporosis and aging-related diseases in a class of prescriptions. The oligosaccharides and catalpol in RR have been confirmed to have neuroprotective effects. However, there are few studies on the anti-Alzheimer’s disease (AD) effect of oligosaccharides in Rehmanniae Radix (ORR). The chemical components and pharmacological effects of dried Rehmannia Radix (DRR) and prepared Rehmannia Radix (PRR) are different because of the different processing methods. ORR has neuroprotective potential, such as improving learning and memory in rats. Therefore, this study aimed to prove the importance of oligosaccharides in DRR (ODRR) and PRR (OPRR) for AD based on the Caenorhabditis elegans (C. elegans) model and the different roles of ODRR and OPRR in the treatment of AD. In this study, we used paralysis assays, lifespan and stress resistance assays, bacterial growth curve, developmental and behavioral parameters, and ability of learning and memory to explore the effects of ODRR and OPRR on anti-AD and anti-aging. Furthermore, the accumulation of reactive oxygen species (ROS); deposition of Aβ; and expression of amy-1, sir-2.1, daf-16, sod-3, skn-1, and hsp-16.2 were analyzed to confirm the efficacy of ODRR and OPRR. OPRR was more effective than ODRR in delaying the paralysis, improving learning ability, and prolonging the lifespan of C. elegans. Further mechanism studies showed that the accumulation of ROS, aggregation, and toxicity of Aβ were reduced, suggesting that ORR alleviated Aβ-induced toxicity, in part, through antioxidant activity and Aβ aggregation inhibiting. The expression of amy-1 was downregulated, and sir-2.1, daf-16, sod-3, and hsp-16.2 were upregulated. Thus, ORR could have a possible therapeutic effect on AD by modulating the expression of amy-1, sir-2.1, daf-16, sod-3, and hsp-16.2. Furthermore, ORR promoted the nuclear localization of daf-16 and further increased the expression of sod-3 and hsp-16.2, which significantly contributed to inhibiting the Aβ toxicity and enhancing oxidative stress resistance. In summary, the study provided a new idea for the development of ORR.
Impact of Growth Sites on the Phenolic Contents and Antioxidant Activities of Three Algerian Mentha Species (M. pulegium L., M. rotundifolia (L.) Huds., and M. spicata L.)
Authors: Brahmi Fatiha , Lounis Nassima , Mebarakou Siham , Guendouze Naima , Yalaoui-Guellal Drifa , Madani Khodir , Boulekbache-Makhlouf Lila , Duez Pierre
Published: June 2022

Research studies about the effect of environmental agents on the accumulation of phenolic compounds in medicinal plants are required to establish a set of optimal growth conditions. Hence, in this work, we considered the impact of habitat types, soil composition, climatic factors, and altitude on the content of phenolics in Mentha species [M. pulegium L. (MP), M. rotundifolia (L.) Huds. (MR), and M. spicata L. (MS)] grown in different regions of Algeria. The phenolic contents and antioxidant activities were analyzed using spectrophotometric and HPTLC methods. The harvesting localities differ by their altitudes and climates, but their soils are quite similar, characterized by slight alkalinity, moderate humidity, no-salinity, and high levels in organic matter. Both the contents in total phenolics (TPC), total flavonoids (TFC), and rosmarinic acid (RAC), and the antioxidant activities of Mentha samples collected from these Algerian localities are affected by the geographical regions of origin. The samples of MS and MP from the Khemis–Miliana region showed the highest concentration in TPC (MS, 7853 ± 265 mg GAE/100 g DW; MP, 5250 ± 191 mg GAE/100 g DW), while in Chemini, the MR samples were the richest in these compounds (MR, 3568 ± 195 mg GAE/100 g DW). Otherwise, the MP (from Tichy), MR (from Tajboudjth), and MS (from Khemis–Miliana) specimens exhibited the highest levels of TFC and RAC. The antioxidant levels in a total activity test (reduction of phosphomolybdate) appear correlated with the total phenolic contents, but this was not the case for most of the important ROS-scavenging and iron-chelating capacities for which the quality of polyphenols is probably more important than their amounts. A principal component analysis (PCA) score plot indicates that all of the Mentha samples can be divided into four groups. These discriminated groups appear comparatively similar in phenolic contents and antioxidant activities. As for the harvest localities, the Mentha samples were divided into four groups in which the phenolic contents and antioxidant activities were comparatively equivalent.
A Five-Dimensional Network Meta-Analysis of Chinese Herbal Injections for Treating Acute Tonsillitis Combined With Western Medicine
Authors: Huang Peiying , Li Yin , Huang Bixuan , Zhao Shuai , Chen Li , Guan Hansu , Chen Yan , Feng Yuchao , Huang Xiaoyan , Deng Yi , Lei Sisi , Wu Qihua , Zhang Haobo , Zeng Zhongyi , Zeng Linsheng , Chen Bojun
Published: June 2022

Background: Acute tonsillitis has high morbidity. Chinese herbal injections (CHIs) were reported to be useful in treating acute tonsillitis and might reduce the probability of antibiotic resistance. Nevertheless, the optimal strategy for combining CHIs with western medicine (WM) to treat acute tonsillitis remains unclear.

Methods: We retrieved data from the following databases with retrieval time from inception to 11 January 2022: PubMed, Embase, Web of Science, Cochrane Library, China National Knowledge Infrastructure, Wanfang Database, Weipu Journal Database, and Chinese Biomedical Literature Database. Version 2 of the Cochrane risk-of-bias tool (ROB2) was used for evaluating the quality of the included studies. R 4.1.2, STATA 14.0, and Python 3.10.4 were employed for network meta-analysis, with 5-dimensional K-means cluster analysis, meta-regression analyses, sensitivity analyses, and subgroup analyses.

Results: A total of 110 randomized controlled trials including 12,152 patients were included. All the studies were rated as “high risk” and “some concerns”. In terms of improving clinical effectiveness rate, Qingkailing injection + WM ranked ahead of other interventions (89.51%). Regarding reducing antipyretic time, Reduning injection + WM had the highest-ranking probability (68.48%). As for shortening sore throat relief time, Shuanghuanglian injection + WM ranked first (76.82%). Concerning shortening red and swollen tonsils relief time, Yanhuning injection + WM possessed the highest-ranking probability (89.17%). In terms of reducing tonsillar exudate relief time, Xuebijing injection + WM ranked ahead of the other interventions (94.82%). Additionally, the results of the cluster analysis suggested that Xuebijing injection + WM, Reduning injection + WM, and Yanhuning injection + WM were probably the best interventions. Furthermore, adverse drug reactions rate of Xuebijing injection + WM, Reduning injection + WM, Yanhuning injection + WM, Qingkailing injection + WM, and Shuanghuanglian injection + WM were individually 0.00%, 3.11%, 3.08%, 4.29%, and 4.62%.

Conclusions: CHIs + WM have a better impact on patients with acute tonsillitis than WM alone. Xuebijing injection, Reduning injection, and Yanhuning injection might have potential advantages in treating the disease. Concerning adverse drug reactions, Xuebijing injection is presumably the optimal CHI. More high-quality studies are needed to further confirm our findings.

Systematic Review Registration: CRD42022303243; URL= https://www.crd.york.ac.uk/PROSPERO/display_record.php?RecordID=303243
Reimbursed Medication Adherence Enhancing Interventions in European Countries: Results of the EUREcA Study
Authors: Ágh Tamás , Hadžiabdić Maja Ortner , Garuoliene Kristina , Granas Anne Gerd , Aarnio Emma , Menditto Enrica , Gregório João , Barnestein-Fonseca Pilar , Mevsim Vildan , Kardas Przemysław ,   European Network to Advance Best Practices and Technology on Medication Adherence (ENABLE)
Published: June 2022

Introduction: Current literature lacks detailed understanding of the reimbursement framework of medication adherence enhancing interventions (MAEIs). As part of the ENABLE COST Action, the EUREcA (“EUropen REimbursement strategies for interventions targeting medication Adherence”) study aimed to provide an in-depth overview of reimbursed MAEIs currently available in European countries at national and regional levels and to pave the way for further MAEIs to be implemented in the future.

Methods: A web-based, cross-sectional survey was performed across 38 European countries and Israel. The survey questionnaire was developed as a result of an iterative process of discussion informed by a desk review. The survey was performed among invited ENABLE collaborators from June to July 2021. Besides descriptive analysis, association between country income and health care expenditure, and the availability of reimbursed MAEIs were also assessed.

Results: The survey identified 13 reimbursed MAEIs in nine countries: multi-dose drug dispensing (n = 5), medication review (n = 4), smart device (n = 2), mobile application (n = 1), and patient education (n = 1). The median GDP per capita of countries having ≥1 reimbursed MAEI was significantly higher compared to countries having no reimbursed adherence intervention (33,888 EUR vs 16,620 EUR, respectively; p = 0.05).

Conclusions: Our findings highlight that to date only a small number of MAEIs have been reimbursed in European countries. Comprehensive health technology assessment recommendations and multi-stakeholder collaboration could help removing barriers related to the implementation and reimbursement of MAEIs.
Post-Ganglionic Sympathetic Neurons can Directly Sense Raised Extracellular Na+ via SCN7a/Nax
Authors: Davis Harvey , Paterson David J , Herring Neil
Published: June 2022

The relationship between dietary NaCl intake and high blood pressure is well-established, and occurs primarily through activation of the sympathetic nervous system. Nax, a Na+-sensitive Na+ channel, plays a pivotal role in driving sympathetic excitability, which is thought to originate from central regions controlling neural outflow. We investigated whether post-ganglionic sympathetic neurons from different ganglia innervating cardiac and vasculature tissue can also directly sense extracellular Na+. Using whole-cell patch clamp recordings we demonstrate that sympathetic neurons from three sympathetic ganglia (superior cervical, stellate and superior mesenteric/coeliac) respond to elevated extracellular NaCl concentration. In sympathetic stellate ganglia neurons, we established that the effect of NaCl was dose-dependent and independent of osmolarity, Cl− and membrane Ca2+ flux, and critically dependent on extracellular Na+ concentration. We show that Nax is expressed in sympathetic stellate ganglia neurons at a transcript and protein level using single-cell RNA-sequencing and immunohistochemistry respectively. Additionally, the response to NaCl was prevented by siRNA-mediated knockdown of Nax, but not by inhibition of other membrane Na+ pathways. Together, these results demonstrate that post-ganglionic sympathetic neurons are direct sensors of extracellular Na+via Nax, which could contribute to sympathetic driven hypertension.
Mitosis, Focus on Calcium
Authors: Nugues Charlotte , Helassa Nordine , Haynes Lee P.
Published: June 2022

The transformation of a single fertilised egg into an adult human consisting of tens of trillions of highly diverse cell types is a marvel of biology. The expansion is largely achieved by cell duplication through the process of mitosis. Mitosis is essential for normal growth, development, and tissue repair and is one of the most tightly regulated biological processes studied. This regulation is designed to ensure accurate segregation of chromosomes into each new daughter cell since errors in this process can lead to genetic imbalances, aneuploidy, that can lead to diseases including cancer. Understanding how mitosis operates and the molecular mechanisms that ensure its fidelity are therefore not only of significant intellectual value but provide unique insights into disease pathology. The purpose of this review is to revisit historical evidence that mitosis can be influenced by the ubiquitous second messenger calcium and to discuss this in the context of new findings revealing exciting new information about its role in cell division.
Systematic Analysis of bHLH Transcription Factors in Cassava Uncovers Their Roles in Postharvest Physiological Deterioration and Cyanogenic Glycosides Biosynthesis
Authors: An Feifei , Xiao Xinhui , Chen Ting , Xue Jingjing , Luo Xiuqin , Ou Wenjun , Li Kaimian , Cai Jie , Chen Songbi
Published: June 2022

The basic helix-loop-helix (bHLH) proteins are a large superfamily of transcription factors, and play a central role in a wide range of metabolic, physiological, and developmental processes in higher organisms. However, systematic investigation of bHLH gene family in cassava (Manihot esculenta Crantz) has not been reported. In the present study, we performed a genome-wide survey and identified 148 MebHLHs genes were unevenly harbored in 18 chromosomes. Through phylogenetic analyses along with Arabidopsis counterparts, these MebHLHs genes were divided into 19 groups, and each gene contains a similar structure and conserved motifs. Moreover, many cis-acting regulatory elements related to various defense and stress responses showed in MebHLH genes. Interestingly, transcriptome data analyses unveiled 117 MebHLH genes during postharvest physiological deterioration (PPD) process of cassava tuberous roots, while 65 MebHLH genes showed significantly change. Meanwhile, the relative quantitative analysis of 15 MebHLH genes demonstrated that they were sensitive to PPD, suggesting they may involve in PPD process regulation. Cyanogenic glucosides (CGs) biosynthesis during PPD process was increased, silencing of MebHLH72 and MebHLH114 showed that linamarin content was significantly decreased in the leaves. To summarize, the genome-wide identification and expression profiling of MebHLH candidates pave a new avenue for uderstanding their function in PPD and CGs biosynthesis, which will accelerate the improvement of PPD tolerance and decrease CGs content in cassava tuberous roots.
Combining GWAS, Genome-Wide Domestication and a Transcriptomic Analysis Reveals the Loci and Natural Alleles of Salt Tolerance in Rice (Oryza sativa L.)
Authors: Lv Yang , Ma Jie , Wei Hua , Xiao Fang , Wang Yueying , Jahan Noushin , Hazman Mohamed , Qian Qian , Shang Lianguang , Guo Longbiao
Published: June 2022

Soil salinity poses a serious threat to the sustainable production of rice (Oryza sativa L.) throughout the world. Thus, the detection of loci and alleles responsible for salt tolerance is fundamental to accelerating the improvement of rice and producing the resilient varieties that will ensure future harvests. In this study, we collected a set of 191 mini-core rice populations from around the world, evaluated their salt tolerance based on plant growth and development phenotypes at the seedling stage, and divided a standard evaluation score (SES) of visual salt injury into five different grades. We used ∼3.82 million single nucleotide polymorphisms (SNPs) to identify 155 significant SNPs and 275 genes associated with salt sensitivity based on a genome-wide association study (GWAS) of SES. In particular, two candidate genes, ZFP179 and OsDSR2, were associated with salt tolerance, and OsHKT1;1 was co-detected in the entire GWAS of all the panels and indica. Additionally, we investigated the transcriptional changes in cultivars 93-11 and PA64s under normal and salinity stress conditions and found 517 co-upregulated and 223 co-downregulated genes. These differentially expressed genes (DEGs) were highly enriched in “response to chemical” and “stress” based on the gene ontology enrichment analysis. Notably, 30 candidate genes that were associated with the salt tolerance analysis were obtained by integrating GWAS and transcriptomic DEG analyses, including 13 cloned genes that had no reports of tolerance to salt and 17 candidate genes whose functions were unknown. To further explore these genes and their alleles, we performed haplotype analysis, genome-wide domestication detection, and transcriptome analysis to breed improved varieties. This data and the genetic resources provided will be valuable for the development of salt tolerant rice varieties.
Monitoring Leaf Nitrogen Accumulation With Optimized Spectral Index in Winter Wheat Under Different Irrigation Regimes
Authors: Sun Hui , Feng Meichen , Yang Wude , Bi Rutian , Sun Jingjing , Zhao Chunqi , Xiao Lujie , Wang Chao , Kubar Muhammad Saleem
Published: June 2022

Rapid and non-destructive estimation of leaf nitrogen accumulation (LNA) is essential to field nitrogen management. Currently, many vegetation indices have been used for indicating nitrogen status. Few studies systematically analyzed the performance of vegetation indices of winter wheat in estimating LNA under different irrigation regimes. This study aimed to develop a new spectral index for LNA estimation. In this study, 2 years of field experiments with different irrigation regimes were conducted from 2015 to 2017. The original reflectance (OR) and three transformed spectra [e.g., the first derivative reflectance (FDR), logarithm of the reciprocal of the spectra (Log(1/R)), and continuum removal (CR)] were used to calculate two- and three-band spectral indices. Correlation analyses and univariate linear and non-linear regression between transformed-based spectral indices and LNA were performed. The performance of the optimal spectral index was evaluated with classical vegetation index. The results showed that FDR was the most stable transformation method, which can effectively enhance the relationships to LNA and improve prediction performance. With a linear relationship with LNA, FDR-based three-band spectral index 1 (FDR-TBI1) (451, 706, 688) generated the best performance with coefficient of determination (R2) of 0.73 and 0.79, the root mean square error (RMSE) of 1.267 and 1.266 g/m2, and the ratio of performance to interquartile distance (RPIQ) of 2.84 and 2.71 in calibration and validation datasets, respectively. The optimized spectral index [FDR-TBI1 (451, 706, 688)] is more effective and might be recommended as an indicator for estimating winter wheat LNA under different irrigation regimes.
The Antarctic Moss Pohlia nutans Genome Provides Insights Into the Evolution of Bryophytes and the Adaptation to Extreme Terrestrial Habitats
Authors: Liu Shenghao , Fang Shuo , Cong Bailin , Li Tingting , Yi Dan , Zhang Zhaohui , Zhao Linlin , Zhang Pengying
Published: June 2022

The Antarctic continent has extreme natural environment and fragile ecosystem. Mosses are one of the dominant floras in the Antarctic continent. However, their genomic features and adaptation processes to extreme environments remain poorly understood. Here, we assembled the high-quality genome sequence of the Antarctic moss (Pohlia nutans) with 698.20 Mb and 22 chromosomes. We found that the high proportion of repeat sequences and a recent whole-genome duplication (WGD) contribute to the large size genome of P. nutans when compared to other bryophytes. The genome of P. nutans harbors the signatures of massive segmental gene duplications and large expansions of gene families, likely facilitating neofunctionalization. Genomic characteristics that may support the Antarctic lifestyle of this moss comprise expanded gene families involved in phenylpropanoid biosynthesis, unsaturated fatty acid biosynthesis, and plant hormone signal transduction. Additional contributions include the significant expansion and upregulation of several genes encoding DNA photolyase, antioxidant enzymes, flavonoid biosynthesis enzymes, possibly reflecting diverse adaptive strategies. Notably, integrated multi-omic analyses elucidate flavonoid biosynthesis may function as the reactive oxygen species detoxification under UV-B radiation. Our studies provide insight into the unique features of the Antarctic moss genome and their molecular responses to extreme terrestrial environments.
Validation of the Organizational-Based General Self-Esteem Scale
Authors: Filosa Lorenzo , Alessandri Guido
Published: June 2022

Using data from four different samples of full-time employees (Ntotal = 2,474), the present study was aimed to introduce and demonstrate the validity and reliability of the Organizational-Based General Self-esteem Scale (OB-GSE) a new six-item self-report scale to measure organizational-based self-esteem (OBSE) at work. Results provided evidence of (1) validity (internal, external, and convergent), (2) reliability, and (3) temporal stability of the OB-GSE scale. All in all, results attested the usefulness and the effectiveness of the OB-GSE scale.
LASSO-Based Pattern Recognition for Replenished Items With Graded Responses in Multidimensional Computerized Adaptive Testing
Authors: Sun Jianan , Ye Ziwen , Ren Lu , Li Jingwen
Published: June 2022

As a branch of statistical latent variable modeling, multidimensional item response theory (MIRT) plays an important role in psychometrics. Multidimensional graded response model (MGRM) is a key model for the development of multidimensional computerized adaptive testing (MCAT) with graded-response data and multiple traits. This paper explores how to automatically identify the item-trait patterns of replenished items based on the MGRM in MCAT. The problem is solved by developing an exploratory pattern recognition method for graded-response items based on the least absolute shrinkage and selection operator (LASSO), which is named LPRM-GR and facilitates the subsequent parameter estimation of replenished items and helps maintaining the effectiveness of item replenishment in MCAT. In conjunction with the proposed approach, the regular BIC and weighted BIC are applied, respectively, to select the optimal item-trait patterns. Simulation for evaluating the LPRM-GR in pattern recognition accuracy of replenished items and the corresponding item estimation accuracy is conducted under multiple conditions across different numbers with respect to dimensionality, response-category numbers, latent trait correlation, stopping rules, and item selection criteria. Results show that the proposed method with the two types of BIC both have good performance in pattern recognition for item replenishment in the two- to four-dimensional MCAT with the MGRM, for which the weighted BIC is generally superior to the regular BIC. The proposed method has relatively high accuracy and efficiency in identifying the patterns of graded-response items, and has the advantages of easy implementation and practical feasibility.
From Text on Paper to Digital Poetry: Creativity and Digital Literary Reading Practices in Initial Teacher Education
Authors: Selfa Sastre Moisés , Falguera Garcia Enric
Published: June 2022

The new contexts of literary education allow for the creation of digital reading and writing practices related to what specialised literature calls digital literature. Among these practices and with an eminently theoretical content and with an example of this content, in this paper, we want to focus our gaze on cyberpoetry, conceived as an exercise in literary creativity that firstly involves use of technology and specific software for the digital creation of poetic texts and, last but not least, knowledge and mastery of poetic language and the literary conventions linked thereto. From this point of view, in initial teacher training, we work with future teachers to create cyberpoems with a dual purpose: on the one hand, to reflect on what literary reading in digital format entails and to rehearse reading mediation processes that can be carried out with this type of literature, and, on the other, to begin in the digital creation of cyberpoems that, later, may be presented and worked in a real context of the school classroom. In this paper, we present digital practices of literary reading that have been created by student teachers in initial training. The creation of these practices has been carried out with the Genially tool. For data collection, the URL of each creation is accessed in order to analyse them. The analysis of the data follows the parameters of the qualitative methodology, specifically based on three categories of analysis for each digital creation: multimodality, hypertextuality and the interaction of each digital reading proposal. The conclusions of all this allow us to affirm that the creation of cyberpoems is an exercise in literary creativity that has to take into account the digital dimension of the literary text and its reading comprehension in a multimodal environment. Thus, the teacher in initial training carries out a digital literary mediation exercise, of a creative type, which he will later carry out in his pedagogical practice.
E-Portfolio as an Evaluative Tool for Emergency Virtual Education: Analysis of the Case of the University Andres Bello (Chile) During the COVID-19 Pandemic
Authors: Rodriguez Rubén , Martinez-Ulloa Lorena , Flores-Bustos Carolina
Published: June 2022

The pandemic had serious implications for university education, specifically due to the transition from face-to-face teaching to online methodologies. This article analyzes the perception of students undergoing speech therapy from a Chilean University about the E-portfolio incorporation as an evaluative tool during the emergency virtual teaching due to the COVID-19 pandemic. From quantitative research, a survey of 38 questions based on Likert scales was applied to 108 penultimate year undergraduate students. The survey demonstrated that there is an improvement in the methodology and teaching support, as well as in the creativity and professionalism of the students.
The Role of Response Times on the Measurement of Mental Ability
Authors: Sideridis Georgios , Alahmadi Maisaa Taleb S.
Published: June 2022

The goal of the present study was to evaluate the roles of response times in the achievement of students in the following latent ability domains: (a) verbal, (b) math and spatial reasoning, (c) mental flexibility, and (d) scientific and mechanical reasoning. Participants were 869 students who took on the Multiple Mental Aptitude Scale. A mixture item response model was implemented to evaluate the roles of response times in performance by modeling ability and non-ability classes. Results after applying this model to the data across domains indicated the presence of several behaviors related to rapid responding which were covaried with low achievement likely representing unsuccessful guessing attempts.
The Role of Teachers’ Interpersonal Behaviors in Learners’ Academic Achievements
Authors: Zhang Qian
Published: June 2022

In the context of English as a foreign language classroom, affections that form between teacher and students may affect the teaching/learning process. This review aimed to investigate the related studies on the effect of teacher-learner interpersonal relationships on learners’ educational performance in English as a Foreign Language (EFL) educational contexts. This review concluded that there is a significant constructive correlation between teacher-learner interpersonal relationships and learners’ academic achievement. Learners are required to have some sense of belonging to improve their educational performance. Moreover, other positive emotional factors such as grit, wellbeing, self-efficacy, academic engagement, motivation, and foreign language enjoyment can mediate the association between teacher-learner interpersonal relationships and learners’ academic success. The study concludes with some implications for English learners, English language teachers, and English language teacher trainers. The ideas can improve their awareness of teacher-student interpersonal relationships, including teacher stroke, rapport, and teacher immediacy and their role in improving learners’ foreign language learning.
Determinants of Behavioral Intention and Use of Interactive Whiteboard by K-12 Teachers in Remote and Rural Areas
Authors: Zhou Ying , Li Xinxin , Wijaya Tommy Tanu
Published: June 2022

Interactive Whiteboard (IWB) has recently been used to replace the TWB (traditional whiteboard), with many of its features being observed to help teachers in educational activities. This is based on effectively and efficiently increasing the teacher-student interaction. Therefore, this study aims to analyze the determinants of Behavioral Intention (BI) and the use of interactive whiteboards by K-12 teachers, in remote and rural Chinese areas. The Modified-Unified Theory of Acceptance and Use of Technology 2 (UTAUT2) model was used in this analysis, as a learning medium to deliver the subject matter to students. The sample and population were also the teachers in the Guangxi Zhuang Autonomous Region, China, where 171 voluntary respondents participated in this study. Furthermore, the obtained data were processed using a Structural Equation Model (SEM) approach, through the Smart-PLS software. The results showed that Habit and Hedonic Motivation had a significant influence on the Behavioral Intention (BI) of teachers, toward the utilization of IWB in remote and rural areas. Besides this, Facilitating Conditions (FCs) and BI also had a significant positive effect on Usage Behavior. Based on these results, important information was provided to school principals, local governments, and teachers for education quality improvement, regarding the patterns of increasing IWB utilization in remote and rural areas.
Relating Compulsivity and Impulsivity With Severity of Behavioral Addictions: A Dynamic Interpretation of Large-Scale Cross-Sectional Findings
Authors: Demetrovics Zsolt , van den Brink Wim , Paksi Borbála , Horváth Zsolt , Maraz Aniko
Published: June 2022

Background and Aim

Impulsivity and compulsivity are two key temperament traits involved in behavior regulation. The aim of this study was to test several existing theories in explaining the role of impulsivity and compulsivity in symptom severity in various behavioral addictions.

Methods

Data were collected from a (representative) general population sample (N = 2,710, mean age:39.8 years (SD:13.6), 51% woman), and from people who are at increased risk of having a behavioral addiction (N = 9,528 in total, mean age: 28.11 (SD:8.3), 34.3% woman), including people with problematic gaming and internet use, pathological gambling, exercise dependence, compulsive buying and work addiction. Symptom severity, reward driven impulsivity and relief driven compulsivity were assessed.

Results

For non-problematic groups, impulsivity is present to about the same extent as compulsivity, whereas for problematic groups, compulsivity dominates over impulsivity in all groups (except for gambling). The strength of the correlation between impulsivity and compulsivity is higher in more severe forms of the disorders (from r = 0.18 to r = 0.59 in the representative population).

Discussion

Based on these data, it appears that relief-driven behavior (negative reinforcement) dominates over reward-driven behavior (positive reinforcement) in more severe cases of a behavioral addiction.

Conclusion

This is the first large-scale study to find empirical support for the neuroscientific theory on the dominance of compulsivity (“needing”) over impulsivity (“wanting”) in more severe cases of a behavioral addiction. Although longitudinal research is needed, a possible shift from impulsivity to compulsivity takes place, similar to substance use addictions, which maintains the circle of addiction.
Serum Levels and in vitro CX3CL1 (Fractalkine), CXCL8, and IL-10 Synthesis in Phytohemaglutinin-Stimulated and Non-stimulated Peripheral Blood Mononuclear Cells in Subjects With Schizophrenia
Authors: Arabska Jaśmina , Wysokiński Adam , Brzezińska-Błaszczyk Ewa , Kozłowska Elżbieta
Published: June 2022

Introduction

Although schizophrenia is a severe mental illness, whose etiology is still largely unknown, its pathogenesis may be associated with dysregulation of the immune mechanisms. The present study compares the levels of interleukin (IL)-10, interleukin-8 (CXCL8), and fractalkine (CX3CL1) between schizophrenia patients and healthy controls. It also assesses the ability of peripheral peripheral blood mononuclear cells (PBMCs) to produce these cytokines spontaneously and following mitogen-stimulation.

Materials and Methods

A prospective study was performed of 60 adult schizophrenia patients and 32 controls. CXCL8, IL-10, and fractalkine concentrations were measured in serum and supernatants from cultured PBMCs. Anthropometric (BMI, WHR) and body composition measurements were taken using bioimpedance analysis (BIA) and dual-energy X-ray absorptiometry (DXA).

Results and Conclusion

The schizophrenia patients demonstrated significantly higher levels of serum CXCL8 (schizophrenia: 13.4 ± 15.7 pg/mL, control: 6.9 ± 4.2 pg/mL,p= 0.001) and lower level of serum fractalkine (schizophrenia: 22.8 ± 9.9 pg/mL, control: 45.4 ± 84.5 pg/mL,p= 0.041). Serum IL-10 levels did not significantly differ. Noin vitrosynthesis of fractalkine was observed. Neither unstimulated or PHA-stimulated CXCL8 secretion differed between the two groups (p>0.05). The patients not taking mood stabilizers (MS–) demonstrated significantly higher CXCL8 levels than those on mood stabilizers (MS+) (p= 0.03) and control (p< 0.001). In addition, the MS- sub-group demonstrated significantly lower serum fraktalkine than controls (p= 0.009). These effects could be described as pseudo-normalization of CXCL8 and fractalkine in schizophrenia patients taking mood stabilizers.
Network Analysis of the Brief ICF Core Set for Schizophrenia
Authors: Nuño Laura , Guilera Georgina , Barrios Maite , Gómez-Benito Juana , Abdelhamid Gomaa Said Mohamed
Published: June 2022

Background

The International Classification of Functioning, Disability, and Health Core Sets (ICF-CSs) for schizophrenia are a set of categories for assessing functioning in persons with this health condition. This study aimed to: a) estimate the network structure of the Brief ICF-CS for schizophrenia, b) examine the community structure (categories strongly clustered together) underlying this network, and c) identify the most central categories within this network.

Methods

A total of 638 health professionals from different backgrounds and with a significant role in the treatment of individuals with schizophrenia participated in a series of Delphi studies. Based on their responses we used the Ising model to estimate the network structure of the 25-category Brief ICF-CS, and then estimated the degree of centrality for all categories. Finally, the community structure was detected using the walktrap algorithm.

Results

The resulting network revealed strong associations between individual categories within components of the ICF (i.e., Body functions, Activities and participation, and Environmental factors). The results also showed three distinct clusters of categories corresponding to the same three components. The categories e410 Individual attitudes of immediate family members, e450 Individual attitudes of health professionals, d910 Community life, and d175 Solving problems were among the most central categories in the Brief ICF-CS network.

Conclusion

These results demonstrate the utility of a network approach for estimating the structure of the ICF-CSs. Implications of these results for clinical interventions and development of new instruments are discussed.