bluuebunny/crossref_metadata_2025 huggingface dataset:
Epicardial Adipose Tissue and Postoperative Atrial Fibrillation
Authors: Petraglia Laura , Conte Maddalena , Comentale Giuseppe , Cabaro Serena , Campana Pasquale , Russo Carmela , Amaranto Ilaria , Bruzzese Dario , Formisano Pietro , Pilato Emanuele , Ferrara Nicola , Leosco Dario , Parisi Valentina
Published: February 2022

Background

Atrial fibrillation (AF) often occurs after cardiac surgery and is associated with increased risk of stroke and mortality. Prior studies support the important role of inflammation in the pathogenesis of postoperative atrial fibrillation (POAF). It is known that an increased volume and a pro-inflammatory phenotype of epicardial adipose tissue (EAT) are both associated with AF onset in non surgical context. In the present study, we aim to evaluate whether also POAF occurrence may be triggered by an increased production of inflammatory mediators from EAT.

Methods

The study population was composed of 105 patients, with no history of paroxysmal or permanent AF, undergoing elective cardiac surgery. After clinical evaluation, all patients performed an echocardiographic study including the measurement of EAT thickness. Serum samples and EAT biopsies were collected before surgery. Levels of 10 inflammatory cytokines were measured in serum and EAT conditioned media. After surgery, cardiac rhythm was monitored for 7 days.

Results

Forty-four patients (41.3%) developed POAF. As regard to cardiovascular therapy, only statin use was significantly lower in POAF patients (65.1% vs. 84.7%; p-0.032). Levels of Monocyte Chemoattractant Protein-1 (MCP-1), in both serum and EAT, were significantly higher in POAF patients (130.1 pg/ml vs. 68.7 pg/ml; p = <0.001; 322.4 pg/ml vs. 153.4 pg/ml; p = 0.028 respectively). EAT levels of IL-6 were significantly increased in POAF patients compared to those in sinus rhythm (SR) (126.3 pg/ml vs. 23 pg/ml; p = <0.005).

Conclusion

Higher EAT levels of IL-6 and MCP-1 are significantly associated with the occurrence of POAF. Statin therapy seems to play a role in preventing POAF. These results might pave the way for a targeted use of these drugs in the perioperative period.
Runoff Forecasting Using Machine-Learning Methods: Case Study in the Middle Reaches of Xijiang River
Authors: Xiao Lu , Zhong Ming , Zha Dawei
Published: February 2022

Runoff forecasting is useful for flood early warning and water resource management. In this study, backpropagation (BP) neural network, generalized regression neural network (GRNN), extreme learning machine (ELM), and wavelet neural network (WNN) models were employed, and a high-accuracy runoff forecasting model was developed at Wuzhou station in the middle reaches of Xijiang River. The GRNN model was selected as the optimal runoff forecasting model and was also used to predict the streamflow and water level by considering the flood propagation time. Results show that (1) the GRNN presents the best performance in the 7-day lead time of streamflow; (2) the WNN model shows the highest accuracy in the 7-day lead time of water level; (3) the GRNN model performs well in runoff forecasting by considering flood propagation time, increasing the Qualification Rate (QR) of mean streamflow and water level forecast to 98.36 and 82.74%, respectively, and illustrates scientifically of the peak underestimation in streamflow and water level. This research proposes a high-accuracy runoff forecasting model using machine learning, which would improve the early warning capabilities of floods and droughts, the results also lay an important foundation for the mid-long-term runoff forecasting.
Perceived Discrimination as a Threat to the Mental Health of Chinese International Students in Australia
Authors: Zhao Jian , Chapman Elaine , Houghton Stephen , Lawrence David
Published: February 2022

In this study, a brief instrument (the Mental Health Change Indicator Scale, MHCIS) was developed for use in assessing the impact of a negative event on mental health. The instrument was then used to compare the reported impact of the COVID-19 pandemic on the mental health of Chinese university students studying either in China (n = 734) or Australia (n = 108). Perceived discrimination and social support were also evaluated as possible mediators of the relationship between country of residence (Australia vs China), and mental health impact. Results suggested that the 10-item MHCIS was unidimensional and psychometrically sound, and that the pandemic had a significantly (p < 0.001) more negative impact on the mental health of Chinese students studying in Australia than on those studying in China. Perceived discrimination was identified as a key mediating factor in this relationship. Possible implications for higher education institutions in Australia are discussed.
Faculties’ Satisfaction With Distance Education During COVID-19 Outbreak in Jordan
Authors: Jarab Fadi , Al-Qerem Walid , Jarab Anan S. , Banyhani Meriam
Published: February 2022

Although online teaching has been implemented worldwide, specifically in higher education, resistance to technology use exists, as faculty members may lack technology familiarity and may require both guidance and training. The present study evaluated faculty members’ satisfaction towards distance teaching as imposed during the COVID-19 pandemic. An online survey which evaluated socio-demographics and faculties ‘satisfaction toward distance education was validated and completed by 286 faculties from different faculty-fields of education across all Universities in Jordan. Factor analysis was conducted to validate the questionnaire and univariable analysis was conducted to evaluate demographic variables association with satisfaction degree. The confirmatory factor analysis indicated that the most suitable structure for the study data was a 3-factor model constructed from 21 items. The three factors were students-related factor, institution-related factor and technology-related factor. The scores for the three factors were 2.66, 2.00 and 3.33 out of 5 respectively. Faculties who received training for online teaching and those who have attended courses as a trainee were more satisfied with distance education. In conclusion, the faculties’ low satisfaction level reported in the present study shows margin for distance education improvement by conducting intensive training courses for online teaching with the aim of improving faculties’ satisfaction levels towards a web-based teaching environment and hence improving education outcomes.
Subclinical Ventricular Dysfunction in Long-Term Acromegaly Assessed by Speckle-Tracking Echocardiography
Authors: Gadelha Patricia , Santos Eduardo C. L. , Castillo Jose , Vilar Lucio
Published: February 2022

Introduction

Symptomatic heart disease may be present in patients with advanced-stage acromegaly. However, earlier assessment of subclinical ventricular systolic dysfunction can be accomplished through speckle-tracking echocardiography (STE) for the study of myocardial strain. The few such studies in this population to date have produced conflicting results. This study was performed to evaluate the parameters of ventricular strain in patients with acromegaly with no cardiac symptoms.

Methods

In this prospective observational study, STE was performed in patients with active acromegaly with no detectable heart disease and in a control group to assess ventricular dysfunction through global longitudinal strain (GLS), radial strain, circumferential strain, and twist. The left ventricular (LV) ejection fraction, LV mass index, and relative wall thickness were also compared between the groups.

Results

Twenty-five patients with active acromegaly (median age, 49 years; median disease duration, 11 years) and 44 controls were included. LV hypertrophy was more prevalent in the acromegaly group (40% vs. 19%, p < 0.01). The LV ejection fraction was similar between the groups (65.2% ± 5.99% vs. 62.9% ± 7.41%). The mean GLS (−18.8 ± 2.49 vs. −19.7 ± 3.29, p = 0.24), circumferential strain (−16.7 ± 3.18 vs. −16.6 ± 3.42, p = 0.90), and twist (14.6 ± 5.02 vs. 15.1 ± 3.94, p = 0.60) were not significantly different between the groups.

Conclusion

Despite showing higher rates of LV hypertrophy, patients with long-term acromegaly had no impairment of ventricular contractility as assessed by strain echocardiography when compared with a control group.
Quantitative Analysis of the Interactive Influence for Harmonic Emission in Wind Farms
Authors: Shi Jinhui , Chen Wei , Wei Zhanhong , Pei Xiping , Sun Xuebo
Published: February 2022

In the process of integrating large-scale wind farms into the power system, the harmonic interaction among wind farms causes potential safe and stable operation threats to the power grid. To effectively control the harmonics of the wind power grid-connected system, quantitative analysis of the harmonic interaction is very necessary and meaningful. Therefore, this paper firstly explains the harmonic interaction among wind farms from the perspective of the primary and secondary emission. We use the concept of harmonic impedance to analyze the mechanism of harmonic interaction and proposed a calculation method for quantitative analysis of the harmonic interaction. Using the calculation method, the influence caused by the wind farm self-impedance, the contact impedance, and Static Var Generator to the harmonic interaction are quantitatively analyzed. Finally, taking multiple wind farms in actual operation as a case, the effectiveness of the method is verified by time domain simulation.
Unified Active and Reactive Power Coordinated Optimization for Unbalanced Distribution Networks in Radial and Looped Topology
Authors: Zeng Yuanjing , Wang Yang , Li Peishuai
Published: February 2022

Facing the high proportion of distributed generations incorporating in a single phase, the active distribution network has become more unbalanced with flexible topology. In this paper, a unified active and reactive power coordinated optimization (ARPCO) method, which is applicable in both radial and looped unbalanced distribution networks, is proposed. Aiming to reduce power losses and restrain undervoltage and overvoltage problems, the ARPCO model which regulates the active and reactive power output of distributed generations coordinately and optimally is constructed. A novel trust region sequential linear programming (SLP) method, which is effective in nonlinear and nonconvex model solving, is developed and employed in APRCO model solution. A multi-scenario case study based on the modified IEEE 123 node distribution system shows that the proposed method is able to reduce the system active power loss and solve undervoltage and overvoltage problems efficiently, at the same time maximizing the utilization of distributed generations.
Research on Fire Prediction Method of High-Voltage Power Cable Tunnel Based on Abnormal Characteristic Quantity Monitoring
Authors: Li Chenying , Chen Jie , Pu Ziheng , Tao Fengbo , Liu Jianjun , Tan Xiao , Hu Libin , Cao Jingxing
Published: February 2022

The proportion of cable lines in the urban distribution network is increasing. The fire hazard of important cable channels is prominent, which has a serious effect on the safety and stable operation of the power system. In recent years, intelligent mobile inspection and fire extinguishing devices have been applied in tunnels. The determination of firepower and location is conducive to the rapid and effective fire suppression of intelligent devices. Therefore, this study proposes a fire early warning method of a high-voltage power cable tunnel based on abnormal characteristic quantity monitoring. Based on the modified model of complex pyrolysis and combustion chemical reaction, the fire development of different fire source powers and fire locations is simulated. The temperature distribution and characteristic gas concentration under different simulation conditions are analyzed. The results show that the monitoring data of temperature, flue gas concentration, and CO and CO2 concentration need comprehensive analysis to effectively reflect different fire conditions. The characteristic data set is selected and processed to form a total sample. The fire prediction model is trained and tested. The accuracy of the proposed prediction model is 92%.
Synthesis, Characterization, and Application of Ag-Biochar Composite for Sono-Adsorption of Phenol
Authors: Khan Muhammad Naeem , Siddique Maria , Mirza Nosheen , Khan Romana , Bilal Muhammad , Riaz Nadia , Waheed Ummara , Shahzadi Irum , Ali Asmat , Abdellattif Magda H. , El-Saber Batiha Gaber , Al-Harrasi Ahmed , Khan Ajmal
Published: February 2022

The silver-embedded wheat straw biochar (Ag–WBC) composite was tailored effectively via the green synthetic route and was used as a nano-adsorbent for the removal of phenol by using adsorption and sono-adsorption processes. Ligustrum lucidum leaf extract was employed as a reducer to prepare silver nanoparticles, and biochar was synthesized from wheat straw via pyrolysis at 450–500°C. The synthesized biochar and Ag–WBC were characterized by using UV–Vis, SEM, EDX, and FTIR. The study confirms the ability of plant leaf extract of L. lucidum to synthesize AgNPs and Ag–WBC composites for the first time. UV–vis spectroscopic analysis confirms the formation of AgNPs and Ag–WBC composites (400–440 nm). SEM results showed that the size of the Ag–WBC composite is in the range of 80–100 nm. The elemental profile of the synthesized Ag–WBC composite shows a higher count at 3 kev due to silver. FTIR analysis revealed the presence of various functional groups involved in reducing Ag metal ions into Ag nanoparticles onto the surface of the composite. Batch experiments executed adsorption and sono-adsorption studies on WBC and Ag–WBC composites, and the results revealed that under optimum conditions, that is, pH= 3, adsorbate concentration= 10 mg L−1, adsorbents dosage= 0.05 g, time= 90 min, and US power = 80 W, the phenol removal efficiencies onto Ag–WBC composite were 78% using sono-adsorption compared to the non-sonicated adsorption. Langmuir and Freundlich isotherm models for fitting the experimental equilibrium data were studied, and the Langmuir model was chosen as an efficient model for the sono-adsorption process. The feasibility of the sono-adsorption process was also evaluated by calculating kinetics.
Intraspecific Variation in Responses of a Montane Grass, Festuca thurberi, to Simulated Biological Invasion
Authors: Trautwig Adam N. , Cousins Elsa A. , Stinson Kristina A.
Published: February 2022

High elevation plant populations, such as those found in sub-alpine meadows, are at the forefront of climate change and likely to experience novel interactions with migrating plants from lower elevations, including non-native species. Some of these non-native plants, particularly members of the Brassicaceae, produce secondary metabolites that have been shown to inhibit root fungi in other ecosystems. We conducted a growth experiment with plant leachates in order to evaluate the degree to which the dominant high elevation grass species, Festuca thurberi would be affected by future novel interactions with the non-native mustard, Thlaspi arvense, relative to a native mustard (Noccaea fendleri). We assessed growth, chlorophyll content, biomass, mortality, and percent colonization of arbuscular mycorrhizal fungi (AMF) and dark septate endophytes (DSE) in different genotypes of F. thurberi exposed to leachates from native and non-native mustards as well as F. thurberi leachate and a deionized (DI) water control. New growth and mortality varied more by genotype than by treatment with leachate of F. thurberi, T. arvense, and N. fendleri. Treatment, genotype, and the treatment × genotype interaction all had significant effects on chlorophyll content, with N. fendleri treatments demonstrating higher relative greenness levels than control treatments. Percent of fine roots with dark septate endophytes was significantly affected by individual genotype and treatment × genotype interaction, but there were no effects of treatment, genotype, or their interaction on percent root colonization by arbuscules or vesicles. Overall, we show that performance of a dominant high-altitude grass species varies in its response to the presence of an expanding, non-native plant, which may become increasingly common due to climate change.
Mini-Review: Transgenerational CRISPR/Cas9 Gene Editing in Plants
Authors: Impens Lennert , Jacobs Thomas B. , Nelissen Hilde , Inzé Dirk , Pauwels Laurens
Published: February 2022

CRISPR/Cas9 genome editing has been used extensively in a wide variety of plant species. Creation of loss-of-function alleles, promoter variants and mutant collections are a few of the many uses of genome editing. In a typical workflow for sexually reproducing species, plants are generated that contain an integrated CRISPR/Cas9 transgene. After editing of the gene of interest, T-DNA null segregants can be identified in the next generation that contain only the desired edit. However, maintained presence of the CRISPR/Cas9 transgene and continued editing in the subsequent generations offer a range of applications for model plants and crops. In this review, we define transgenerational gene editing (TGE) as the continued editing of CRISPR/Cas9 after a genetic cross. We discuss the concept of TGE, summarize the current main applications, and highlight special cases to illustrate the importance of TGE for plant genome editing research and breeding.
Partial Monosomy 21 Mirrors Gene Expression of Trisomy 21 in a Patient-Derived Neuroepithelial Stem Cell Model
Authors: Schuy Jakob , Eisfeldt Jesper , Pettersson Maria , Shahrokhshahi Niloofar , Moslem Mohsen , Nilsson Daniel , Dahl Niklas , Shahsavani Mansoureh , Falk Anna , Lindstrand Anna
Published: February 2022

Induced pluripotent stem cells (iPSCs) from patients are an attractive disease model to study tissues with poor accessibility such as the brain. Using this approach, we and others have shown that trisomy 21 results in genome-wide transcriptional dysregulations. The effects of loss of genes on chromosome 21 is much less characterized. Here, we use patient-derived neural cells from an individual with neurodevelopmental delay and a ring chromosome 21 with two deletions spanning 3.8 Mb at the terminal end of 21q22.3, containing 60 protein-coding genes. To investigate the molecular perturbations of the partial monosomy on neural cells, we established patient-derived iPSCs from fibroblasts retaining the ring chromosome 21, and we then induced iPSCs into neuroepithelial stem cells. RNA-Seq analysis of NESCs with the ring chromosome revealed downregulation of 18 genes within the deleted region together with global transcriptomic dysregulations when compared to euploid NESCs. Since the deletions on chromosome 21 represent a genetic “contrary” to trisomy of the corresponding region, we further compared the dysregulated transcriptomic profile in with that of two NESC lines with trisomy 21. The analysis revealed opposed expression changes for 23 genes on chromosome 21 as well as 149 non-chromosome 21 genes. Taken together, our results bring insights into the effects on the global and chromosome 21 specific gene expression from a partial monosomy of chromosome 21qter during early neuronal differentiation.
Single-Cell Differential Network Analysis with Sparse Bayesian Factor Models
Authors: Sekula Michael , Gaskins Jeremy , Datta Susmita
Published: February 2022

Differential network analysis plays an important role in learning how gene interactions change under different biological conditions, and the high resolution of single-cell RNA (scRNA-seq) sequencing provides new opportunities to explore these changing gene-gene interactions. Here, we present a sparse hierarchical Bayesian factor model to identify differences across network structures from different biological conditions in scRNA-seq data. Our methodology utilizes latent factors to impact gene expression values for each cell to help account for zero-inflation, increased cell-to-cell variability, and overdispersion that are unique characteristics of scRNA-seq data. Condition-dependent parameters determine which latent factors are activated in a gene, which allows for not only the calculation of gene-gene co-expression within each group but also the calculation of the co-expression differences between groups. We highlight our methodology’s performance in detecting differential gene-gene associations across groups by analyzing simulated datasets and a SARS-CoV-2 case study dataset.
Predicting lncRNA–Protein Interactions by Heterogenous Network Embedding
Authors: Zhao Guoqing , Li Pengpai , Qiao Xu , Han Xianhua , Liu Zhi-Ping
Published: February 2022

lncRNA–protein interactions play essential roles in a variety of cellular processes. However, the experimental methods for systematically mapping of lncRNA–protein interactions remain time-consuming and expensive. Therefore, it is urgent to develop reliable computational methods for predicting lncRNA–protein interactions. In this study, we propose a computational method called LncPNet to predict potential lncRNA–protein interactions by embedding an lncRNA–protein heterogenous network. The experimental results indicate that LncPNet achieves promising performance on benchmark datasets extracted from the NPInter database with an accuracy of 0.930 and area under ROC curve (AUC) of 0.971. In addition, we further compare our method with other eight state-of-the-art methods, and the results illustrate that our method achieves superior prediction performance. LncPNet provides an effective method via a new perspective of representing lncRNA–protein heterogenous network, which will greatly benefit the prediction of lncRNA–protein interactions.
HER2 Positivity Is Affected by the Papillary Structure and Has a Bidirectional Prognostic Value for Gallbladder Carcinoma
Authors: Chen Lingli , Xu Lei , Shen Licheng , Luo Rongkui , Jiang Dongxian , Wang Yueqi , Li Wei , Hou Yingyong
Published: February 2022

Gallbladder carcinoma (GBC) is responsible for 80%–95% of biliary tract malignancies and has a dismal prognosis. Human epidermal growth factor receptor 2 (HER2) is a promising therapeutic target of GBC. Through immunohistochemistry (IHC) and fluorescence in situ hybridization (FISH) methods, HER2 expression and gene amplification were identified on high-output tissue microarrays (TMAs) developed in 306 GBC cases to investigate its relationship with GBC and clinicopathological characteristics. Adenocarcinomas accounted for 223 (72.9%) of the cases, with 62 (27.8%) being papillary adenocarcinoma or having partial papillary structure. HER2 positivity was studied in 16.1% (36/223) of patients with adenocarcinoma and 41.9% (26/62) in adenocarcinoma with papillary structures. For 143 radically resected primary GBC cases with 24 HER2-positive tumors, survival data were valid; the median survival time was not reached, and the 5-year survival rate was 52.9%. All patients in stages 0–I survived, and the results of the HER2-positive group and the stage II HER2-negative group were similar (p = 0.354). However, in stage III, the mortality rate in the HER2-positive group was reduced (p = 0.005) and that in stage IV was higher (p = 0.005). In conclusion, HER2 positivity was significantly higher in patients with papillary GBC. The predictive value of HER2 varies by clinical stage, with no prediction in the early stages, better in stage III, and worse in stage IV.
Comparing Class II MHC DRB3 Diversity in Colombian Simmental and Simbrah Cattle Across Worldwide Bovine Populations
Authors: Ordoñez Diego , Bohórquez Michel David , Avendaño Catalina , Patarroyo Manuel Alfonso
Published: February 2022

The major histocompatibility complex (MHC) exerts great influence on responses to infectious diseases and vaccination due to its fundamental role in the adaptive immune system. Knowledge about MHC polymorphism distribution among breeds can provide insights into cattle evolution and diversification as well as population-based immune response variability, thus guiding further studies. Colombian Simmental and Simbrah cattle’s BoLA-DRB3 genetic diversity was compared to that of taurine and zebuine breeds worldwide to estimate functional diversity. High allele richness was observed for Simmental and Simbrah cattle; nevertheless, high homozygosity was associated with individual low sequence variability in both the β1 domain and the peptide binding region (PBR), thereby implying reduced MHC-presented peptide repertoire size. There were strong signals of positive selection acting on BoLA-DRB3 in all populations, some of which were poorly structured and displayed common alleles accounting for their high genetic similarity. PBR sequence correlation analysis suggested that, except for a few populations exhibiting some divergence at PBR, global diversity regarding potential MHC-presented peptide repertoire could be similar for the cattle populations analyzed here, which points to the retention of functional diversity in spite of the selective pressures imposed by breeding.
Inferring Latent Disease-lncRNA Associations by Label-Propagation Algorithm and Random Projection on a Heterogeneous Network
Authors: Chen Min , Deng Yingwei , Li Ang , Tan Yan
Published: February 2022

Long noncoding RNA (lncRNA), a type of more than 200 nucleotides non-coding RNA, is related to various complex diseases. To precisely identify the potential lncRNA–disease association is important to understand the disease pathogenesis, to develop new drugs, and to design individualized diagnosis and treatment methods for different human diseases. Compared with the complexity and high cost of biological experiments, computational methods can quickly and effectively predict potential lncRNA–disease associations. Thus, it is a promising avenue to develop computational methods for lncRNA-disease prediction. However, owing to the low prediction accuracy ofstate of the art methods, it is vastly challenging to accurately and effectively identify lncRNA-disease at present. This article proposed an integrated method called LPARP, which is based on label-propagation algorithm and random projection to address the issue. Specifically, the label-propagation algorithm is initially used to obtain the estimated scores of lncRNA–disease associations, and then random projections are used to accurately predict disease-related lncRNAs.The empirical experiments showed that LAPRP achieved good prediction on three golddatasets, which is superior to existing state-of-the-art prediction methods. It can also be used to predict isolated diseases and new lncRNAs. Case studies of bladder cancer, esophageal squamous-cell carcinoma, and colorectal cancer further prove the reliability of the method. The proposed LPARP algorithm can predict the potential lncRNA–disease interactions stably and effectively with fewer data. LPARP can be used as an effective and reliable tool for biomedical research.
Whole Exome Sequencing Identified Novel ARMC9 Variations in Two Cases With Joubert Syndrome
Authors: Wang Hao , Luo Guanjun , Hu Wensheng , Mei Jin , Shen Yue , Wang Min , Tan Yuan , Yang Yang , Lu Chao , Zhao Yong , Qi Ming
Published: February 2022

Background: Biallelic variations in the armadillo repeat-containing 9 (ARMC9) gene were recently defined to cause Joubert syndrome (JS) type thirty. In this study, two unrelated families with probands displaying typical indications of JS were enrolled and underwent a series of clinical and genetic investigations.

Methods: Routine evaluation including magnetic resonance imaging (MRI) was carried out. Whole-exome sequencing (WES) was performed on the probands to detect causative variants. Next, in silico structural and molecular dynamic (MD) analysis was conducted on the missense variant for analyzing its intramolecular impact. Meanwhile, an in vitro study with the minigene system was performed to explore the specific impact on mRNA splicing of another variant.

Results: Two unrelated patients from two different families came to our hospital exhibiting typical JS presentations, such as the “molar tooth sign.” Using WES, we identified that both probands carried the compound heterogeneous variants in ARMC9 (NM_025139.6), with c.1878+1G > A and c.895C > T (p.Arg299Ter) in family 1 and c.1878+1G > A and c.1027C > T (p.Arg343Cys) in family 2. These variants were inherited from their unaffected parents by Sanger sequencing, respectively, and ARMC9 c.895C > T (p.Arg299Ter) and c.1878+1G > A were novel variants. In silico analysis indicated the c.1027C > T (p.Arg343Cys) would likely affect the secondary structure of the ARMC9 protein. The minigene study demonstrated that the splice site variant c.1878+1G > A abolished the canonical donor site, resulting in an 18bp intronic retention of intron 20.

Conclusion: The findings in this study expanded the mutation spectrum of ARMC9-associated JS, and we suggested that the function of ARMC9 in the pathogenesis of JS might involve the development of primary cilia, after discussing the function of the ARMC9 protein.
Association of Interleukin-10 Polymorphism (rs1800896, rs1800871, and rs1800872) With Breast Cancer Risk: An Updated Meta-Analysis Based on Different Ethnic Groups
Authors: Li Lijun , Xiong Wei , Li Donghua , Cao Jiangang
Published: February 2022

Background: The interleukin10 (IL-10) gene polymorphisms have been indicated to be associated with breast cancer (BC) risk, but the findings are still controversial. To derive a more precise evaluation, we performed a comprehensive meta-analysis.

Methods: A systematic literature search was conducted using PubMed, Embase, CNKI, China biomedical (CBM), and Google Scholar to 29 March 2020. Revman5.3 and Stata 12.0 software analyzed the data, and the strength of the association was identified using the odds ratio (OR) and the corresponding 95% confidence interval (CI).

Results: A total of 23 studies (7,250 cancer cases and 7,675 case-free controls) were included in this meta-analysis. The results show that IL-10 gene polymorphisms were significantly correlated with BC risk based on subgroup analysis by ethnicity. The IL-10 rs1800896 polymorphism was significantly associated with the risk of BC in Asians (G vs. A: OR = 0.78, 95% CI = 0.65–0.95, p = 0.01; GG vs. AA: OR = 0.51, 95% CI = 0.31–0.84, p = 0.007; GA vs. AA: OR = 0.6, 95% CI = 0.44–0.81, p = 0.0009; GG + GA vs. AA: OR = 0.6, 95% CI = 0.45–0.81, p = 0.0007); Moreover, an increased BC risk in Asians were also associated with the IL-10 rs1800872 polymorphism (AA vs CC: OR = 0.74, 95% CI = 0.55–0.99, p = 0.04; A vs C: OR = 0.85, 95% CI = 0.74–0.98, p = 0.03). In addition, The IL-10 rs1800871 (CT vs. TT: OR = 1.8, 95% CI = 1.03–3.13, p = 0.04) and rs1800872 polymorphism (A vs C: OR = 0.65, 95% CI 0.43–0.98, p = 0.04) were associated with BC risk in Caucasians.

Conclusion: Collectively, this meta-analysis demonstrated that IL-10 rs1800896 and rs1800872 (AA vs. CC; A vs. C) polymorphisms significantly increased the risk of BC in Asians, while the rs1800871 and rs1800872 (A vs. C) were associated with the risk of BC in Caucasians. Therefore, this may provide new ideas for predicting and diagnosing BC susceptibility through the detection of IL-10 gene polymorphism.

Systematic Review Registration: [https://www.crd.york.ac.uk/ PROSPERO], identifier [CRD42021266635].
Five Visual and Olfactory Target Genes for RNAi in Agrilus Planipennis
Authors: Fan Zhizhi , Zhang Zhen , Zhang Xun , Kong Xiangbo , Liu Fu , Zhang Sufang
Published: February 2022

RNA interference (RNAi) is a widely used technique for gene function researches and recently pest controls. It had been applied in emerald ash borer (EAB Agrilus planipennis) larvae and adults, and achieved significant interference effects, whether by ingesting or microinjecting. Feeding in the phloem and cambial regions, the larvae of A. planipennis are difficult to be controlled by conventional insecticides, so adult stage is the critical stage for EAB control. However, the target genes of adult stage of A. planipennis need to be further screened. Here, we preliminarily screened five potential target genes of vision and olfaction for RNAi in A. planipennis. Three odorant binding proteins (OBPs) and three opsins, which expressed significantly different between newly emerged and sexually mature EABs (OBP5, OBP7, OBP10, LW opsin 1 and UV opsin 2) or highly in sexually mature male EAB (UV opsin 3), were selected as targets to design primers for gene silencing. After dsRNA injection, the gene expression levels were determined by real-time quantitative PCR. We found that the expression levels of five genes were significantly down-regulated, during the 4 days after dsRNA injection. Among these genes, the expression of LW opsin 1 was down-regulated the most, causing a reduction of 99.1% compared with the control treated with EGFP dsRNA, followed by UV opsin 3 (97.4%), UV opsin 2 (97.0%), OBP7 (96.2%), and OBP10 (88.7%). This study provides a basis for further RNAi-based new controlling method development of A. planipennis at adult stage.
Hyper IgE Syndrome in an Isolated Population in Israel
Authors: Lachover-Roth Idit , Lagovsky Irina , Shtorch-Asor Atalia , Confino-Cohen Ronit , Reinstein Eyal , Garty Ben-Zion
Published: February 2022

Introduction

Hyper IgE syndromes (HIES) are a group of rare primary immunodeficiency characterized by high levels of serum IgE, cold abscesses, pulmonary infections, and eczema. ZNF341 deficiency was described in 2018 in 11 patients clinically diagnosed previously with HIES. Eight of those patients, all offspring of consanguineous couples, are from three families who live in a Muslim village in Israel which has approximately 15,000 residents.

Objective

Our study aimed to evaluate the prevalence of ZNF341 mutation in the population of the village.

Methods

Three hundred DNA samples of females were included in the study. The samples belong to females that were referred to the Meir Medical Center for prenatal genetic testing before pregnancy, during 2017-2019: 200 samples were from the village, and 100 samples of Muslim females were from other villages.

All samples were tested by Sanger sequencing for the ZNF341 mutation (c.904C>T, NM_001282933.1).

Results

Heterozygous nonsense mutation in ZNF341 was found in ten samples (5%) of the study group compared to zero in the control group (p<0.01).

Conclusion

The carrier frequency of the mutation in ZNF341 in the studied village population is 1:20. This high frequency is probably due to founder mutation and consanguineous marriages.
The Outcomes of XEN Gel Stent Implantation: A Systematic Review and Meta-Analysis
Authors: Chen Xuan-zhu , Liang Zhi-qiao , Yang Kang-yi , Lv Kun , Ma Yao , Li Meng-yang , Wu Hui-juan
Published: February 2022

Purpose

XEN gel stents are used for the treatment of open-angle glaucoma (OAG), including primary and secondary glaucoma that are uncontrolled by previous medical therapy and cases with previous failed surgery. Our aim was to systematically review of the clinical data of currently published ab-interno XEN gel stents with an emphasis on intraocular pressure (IOP), antiglaucoma medication outcomes, and safety profiles.

Methods

We analyzed all of the publications (MEDLINE, EMBASE, Cochrane Library) on the ab-interno XEN gel stent to evaluate the reduction in IOP and antiglaucoma medications following the procedure. The primary outcomes measured for the meta-analysis were reduction in IOP and anti-glaucoma medications. The secondary outcome were adverse events. For each study, we used a random effects analysis model to calculate the mean difference and 95% confidence intervals for the continuous results (reduction in IOP and antiglaucoma medications) using the inverse variance statistical method.

Results

Five hundred twenty-seven articles were checked and 56 studies were found to be relevant with a total of 4,410 eyes. There was a significant reduction in IOP as well as in the number of medications required in patients treated with ab-interno XEN implant either alone or combined with cataract surgery. This new treatment for various types of glaucoma reduced the IOP by 35% to a final average close to 15 mmHg. This reduction was accompanied by a decrease in the number of antiglaucoma medications in all the studies, approximately 2 classes of medication at the price of more needlings. The overall complete success rate was 21.0–70.8% after 2 years using strict criteria originally designed to record success rate in filtration surgery. The incidence of complications vision-threatening was low at <1%.

Conclusions

XEN gel stent was effective and safe for primary and secondary OAG. Further studies should be performed to investigate the impact of ethnicity on the success and failure rate after XEN implantation.
Donor-Related Risk Factors for Graft Decompensation Following Descemet's Stripping Automated Endothelial Keratoplasty
Authors: Nishisako Sota , Yamaguchi Takefumi , Hirayama Masatoshi , Higa Kazunari , Aoki Dai , Sasaki Chiaki , Noma Hisashi , Shimazaki Jun
Published: February 2022

Aims

To identify donor-related risk factors associated with graft endothelial failure and postoperative endothelial cell density (ECD) reduction after Descemet's stripping automated endothelial keratoplasty (DSAEK).

Methods

This was a single-center retrospective study conducted from July 2006-December 2016. We included 584 consecutive eyes (482 patients) that underwent DSAEK for the treatment of laser iridotomy-related bullous keratopathy (192 eyes), pseudophakic bullous keratopathy (137 eyes), regraft (96 eyes), Fuchs' endothelial corneal dystrophy (FECD; 59 eyes) and others (100 eyes). Twenty-three donor- and recipient-related risk factors potentially associated with graft failure and ECD reduction were assessed using Cox hazard models and linear mixed effect models.

Results

The median age of the patients was 73.5 years (male; 35.6%). After DSAEK, ECD decreased from 2,674 cells/mm2 (95% confidence interval [CI]; 2,646–2,701) to 1,132 (1,076–1,190) at 12 months and 904 (845–963) at 24 months (P < 0.001). Fifty-five eyes (9.4%) had graft endothelial failure without rejection. This failure was associated with donor pseudophakic lens status (hazard ratio [HR]; 2.67, CI; 1.50–4.76, P = 0.001) and preoperative endothelial folds (HR; 2.82, CI; 1.20–6.62, P = 0.02). The incidence of graft endothelial failure in non-FECD patients was significantly higher among those receiving donor grafts with a pseudophakic lens status and preoperative presence of endothelial folds (P < 0.001). Postoperative ECD loss was significantly greater in eyes with these risk factors compared to those without (P = 0.007).

Conclusions

Pseudophakic status and/or presence of preoperative endothelial folds are the significant donor risk factors for endothelial failure in non-FECD patients.
Review of Perioperative Music Medicine: Mechanisms of Pain and Stress Reduction Around Surgery
Authors: Ginsberg J. P. , Raghunathan Karthik , Bassi Gabriel , Ulloa Luis
Published: February 2022

Clinical-experimental considerations and an approach to understanding the autonomic basis of improved surgical outcomes using Perioperative Music Medicine (PMM) are reviewed. Combined surgical, psycho-physiological, and experimental perspectives on Music Medicine (MM) and its relationship to autonomic nervous system (ANS) function are discussed. Considerations are given to the inter-related perioperative effects of MM on ANS, pain, and underlying vagal and other neural circuits involved in emotional regulation and dysregulation. Many surgical procedures are associated with significant pain, which is routinely treated with post-operative opioid medications, which cause detrimental side effects and delay recovery. Surgical trauma shifts the sympathetic ANS to a sustained activation impairing physiological homeostasis and causing psychological stress, as well as metabolic and immune dysfunction that contribute to postoperative mortality and morbidity. In this article, we propose a plan to operationalize the study of mechanisms mediating the effects of MM in perioperative settings of orthopedic surgery. These studies will be critical for the implementation of PMM as a routine clinical practice and to determine the potential limitations of MM in specific cohorts of patients and how to improve the treatment.
Development of a Nomogram to Predict the Risk of Chronic Active Epstein-Barr Virus Infection Progressing to Hemophagocytic Lymphohistiocytosis
Authors: He Xiaodan , Wang Jingshi , Song Deli , Wang Zhao
Published: February 2022

Background

Chronic active Epstein-Barr virus infection (CAEBV) disease is sometimes associated with an aggressive clinical course, such as hemophagocytic lymphohistiocytosis (HLH). To explore the risk factors and predict the risk of CAEBV infection progressing to HLH, a retrospective research study was conducted.

Methods

We retrospectively reviewed the medical records of 187 CAEBV-infected patients who were admitted to our center between January 2015 and December 2020. The patients were followed up until May 2021. The patients were divided into a progression-to-HLH group and a no-progression-to-HLH group. Demographic, clinical and laboratory data were collected for each patient.

Results

Among the 121 CAEBV-infected patients who fulfilled the study's inclusion criteria, 48 (30.7%) patients did not progress to HLH, and 73 (60.3%) patients progressed to HLH. The median time from CAEBV infection to progression to HLH was 14 months, and the cumulative incidence rate of HLH increased as the duration of follow up increased (24.9, 47.3, 55.1, and 85.2% at 1, 3, 5, and 10 years, respectively). Multivariate analyses showed that the independent risk factors for CAEBV progression to HLH were plasma EBV-DNA load (OR = 3.239, 95% CI 1.219–8.603, P = 0.018), Platelet count (OR=0.991, 95%CI 0.985–0.998, P = 0.010), elevated alanine aminotransferase (OR=1.019, 95%CI 1.005–1.034, P = 0.009) and ≥2 of 3 lineages of cytopenia (OR=8.364, 95%CI 1.062–65.839, P = 0.044). The regression coefficients (β) from the multivariate logistic model were used to construct a model for estimating the risk of CAEBV infection progressing to HLH. The discriminatory ability of the model was good, and the area under the receiver operating characteristic (ROC) curve (AUC) was 0.925.

Conclusion

plasma EBV-DNA load, platelet count, elevated alanine aminotransferase and ≥ 2 of 3 lineages of cytopenia increase the risk of CAEBV infection progressing to HLH. A nomogram can be used to estimate the risk of CAEBV-infected patients progressing to HLH.
Autoimmune Pemphigus: Latest Advances and Emerging Therapies
Authors: Lim Yen Loo , Bohelay Gerome , Hanakawa Sho , Musette Philippe , Janela Baptiste
Published: February 2022

Pemphigus represents a group of rare and severe autoimmune intra-epidermal blistering diseases affecting the skin and mucous membranes. These painful and debilitating diseases are driven by the production of autoantibodies that are mainly directed against the desmosomal adhesion proteins, desmoglein 3 (Dsg3) and desmoglein 1 (Dsg1). The search to define underlying triggers for anti-Dsg-antibody production has revealed genetic, environmental, and possible vaccine-driven factors, but our knowledge of the processes underlying disease initiation and pathology remains incomplete. Recent studies point to an important role of T cells in supporting auto-antibody production; yet the involvement of the myeloid compartment remains unexplored. Clinical management of pemphigus is beginning to move away from broad-spectrum immunosuppression and towards B-cell-targeted therapies, which reduce many patients’ symptoms but can have significant side effects. Here, we review the latest developments in our understanding of the predisposing factors/conditions of pemphigus, the underlying pathogenic mechanisms, and new and emerging therapies to treat these devastating diseases.
GrapHD: Graph-Based Hyperdimensional Memorization for Brain-Like Cognitive Learning
Authors: Poduval Prathyush , Alimohamadi Haleh , Zakeri Ali , Imani Farhad , Najafi M. Hassan , Givargis Tony , Imani Mohsen
Published: February 2022

Memorization is an essential functionality that enables today's machine learning algorithms to provide a high quality of learning and reasoning for each prediction. Memorization gives algorithms prior knowledge to keep the context and define confidence for their decision. Unfortunately, the existing deep learning algorithms have a weak and nontransparent notion of memorization. Brain-inspired HyperDimensional Computing (HDC) is introduced as a model of human memory. Therefore, it mimics several important functionalities of the brain memory by operating with a vector that is computationally tractable and mathematically rigorous in describing human cognition. In this manuscript, we introduce a brain-inspired system that represents HDC memorization capability over a graph of relations. We proposeGrapHD, hyperdimensional memorization that represents graph-based information in high-dimensional space.GrapHDdefines an encoding method representing complex graph structure while supporting both weighted and unweighted graphs. Our encoder spreads the information of all nodes and edges across into a full holistic representation so that no component is more responsible for storing any piece of information than another. Then,GrapHDdefines several important cognitive functionalities over the encoded memory graph. These operations include memory reconstruction, information retrieval, graph matching, and shortest path. Our extensive evaluation shows thatGrapHD: (1) significantly enhances learning capability by giving the notion of short/long term memorization to learning algorithms, (2) enables cognitive computing and reasoning over memorization graph, and (3) enables holographic brain-like computation with substantial robustness to noise and failure.
Real-Time Audio Processing of Real-Life Soundscapes for EEG Analysis: ERPs Based on Natural Sound Onsets
Authors: Hölle Daniel , Blum Sarah , Kissner Sven , Debener Stefan , Bleichner Martin G.
Published: February 2022

With smartphone-based mobile electroencephalography (EEG), we can investigate sound perception beyond the lab. To understand sound perception in the real world, we need to relate naturally occurring sounds to EEG data. For this, EEG and audio information need to be synchronized precisely, only then it is possible to capture fast and transient evoked neural responses and relate them to individual sounds. We have developed Android applications (AFEx and Record-a) that allow for the concurrent acquisition of EEG data and audio features, i.e., sound onsets, average signal power (RMS), and power spectral density (PSD) on smartphone. In this paper, we evaluate these apps by computing event-related potentials (ERPs) evoked by everyday sounds. One participant listened to piano notes (played live by a pianist) and to a home-office soundscape. Timing tests showed a stable lag and a small jitter (< 3 ms) indicating a high temporal precision of the system. We calculated ERPs to sound onsets and observed the typical P1-N1-P2 complex of auditory processing. Furthermore, we show how to relate information on loudness (RMS) and spectra (PSD) to brain activity. In future studies, we can use this system to study sound processing in everyday life.