bluuebunny/crossref_metadata_2025_split huggingface dataset:
Blood ethylene oxide levels in relation to the progression of hepatic steatosis and liver fibrosis: a cross-sectional study
Authors: Zhao Can , Bian Xuqiang , Li Longsong , Chai Ningli 
Published: August 2024

Abstract

Background: Ethylene oxide (EO) may cause liver damage or transient liver function impairment in humans. The purpose of this study was to investigate the relationship between ethylene oxide exposure and hepatic fibrosis and hepatic steatosis in adults.
Methods: Cross-sectional data were selected from 4531 participants in the 2013-2020 National Health and Nutrition Examination Survey (NHANES). The FIB-4 index and the HSI hepatic steatosis index were used to evaluate liver fibrosis and liver fat content. Men with serum ALT > 30 IU/L and women with serum ALT > 19 IU/L were defined as non-alcoholic fatty liver patients, and FIB-4 > 1.3 was defined as liver fibrosis of different degrees. The relationship between ethylene oxide hemoglobin adjunct (HbEO), inflammatory biomarkers, and liver fibrosis and fatty liver was evaluated using restricted cubic spline plots and multivariate linear regression models. Mediation analysis was used to further evaluate their relevance.
Results: HbEO levels in adults were negatively correlated with the FIB-4 index and HSI index [Q1 VS. Q4, FIB-4: β=0.12 (-0.17, -0.07), HSI: β=-1.30(-1.77, -0.83); p < 0.05], and were negatively associated with liver fibrosis and the risk of non-alcoholic fatty liver disease after correction for confounders [liver fibrosis: OR=0.70(0.49, 1.01), non-alcoholic fatty liver disease: OR=0.89(0.73, 1.08); p < 0.05]. The levels of alkaline phosphatase, leukocytes, lymphocytes, and neutrophils were negatively correlated with the FIB-4 index but positively correlated with the HSI index (all p < 0.05). Mediated analysis showed that exposure to ethylene oxide had different effects on the FIB-4 index and the HSI index through inflammatory mediators.
Conclusions: The present study results show that ethylene oxide exposure is negatively correlated with liver fibrosis and the prevalence of non-alcoholic fatty liver disease and suggest that inflammatory mediators may mediate the relationship between them, but they are not the only mediators, and the mechanism is complex. Further studies are needed to explore how ethylene oxide affects liver function.
Assessment of polygenic risk score performance in East Asian populations for ten common diseases: A Korean cohort study
Authors: Oh Bermseok , Jung Hae-Un , Jung Hyein , Baek Eun Ju , Kang Ji-One , Kwon Shin Young , You Jaeyoon , Lim Ji Eun 
Published: August 2024

Abstract

Polygenic risk score (PRS) uses genetic variants to assess disease susceptibility. While PRS performance is well-studied in Europeans, its accuracy in East Asians is less explored. This study compared East Asian PRS-continuous shrinkage (PRS-CS) from single-population genome-wide association studies (GWAS) with transferability PRS (PRS-CSx) integrating European and East Asian GWAS for ten common diseases in the Health Examinees (HEXA) cohort (n = 55,870) in Korea. PRS-CSx showed significant transferability, improving predictive metrics: likelihood ratio test (LRT) [1.31-fold], odds ratio per 1 standard deviation (perSD OR) [1.04-fold], and net reclassification improvement (NRI) [1.24-fold]. The difference in R2 values between PRS-CS and PRS-CSx, analyzed using the r2redux method, was statistically significant across eight diseases, demonstrating an average increase of 0.35% in R2 for PRS-CSx. Additionally, we compared the relative performance of these East Asian PRSs with their respective European PRSs for seven diseases, resulting in an average performance of 85.69%. Our findings indicate that while transferability enhances the performance of East Asian PRSs, large-scale East Asian GWAS data are essential to bridge the performance gap with European PRSs for effective disease prediction in East Asian populations.
The clinical value of predicting lymphovascular invasion in patients with invasive lung adenocarcinoma based on the intratumoral and peritumoral CT radiomics models
Authors: LIN Miaomiao , Zhao Chunli , huang haipeng , zhao xiang , Yang siyu , He xixin , Li Kai 
Published: August 2024

Abstract

Purpose: To investigate the clinical value of predicting lymphovascular invasion(LVI) in patients with invasive lung adenocarcinoma(LUAD)based on the intratumoral and peritumoral CT radiomics models.
Materials and Methods: The 384 patients with invasive LUAD from Institution 1 were randomly divided into training (n=268) and internal validation (n=116) sets with a ratio of 7:3, and 251 patients from Institution 2 were used as the external validation set. Altogether, 1226 features were extracted from the tumor gross (GT), gross tumor and peritumor (GPT), and peritumor(PT), respectively. Clinical independent predictors for LVI in patients with invasive LUAD were screened using univariate and multivariate logistic regression, a combined model that included clinical predictors and optimal Rad-score was constructed , and a nomogram was drawn.
Results: The GPT model showed better predictive efficacy than the GT and PT models, with the area under the curve (AUC) of 0.83, 0.79, and 0.75 in the training, internal validation, and external validation sets, respectively. In the clinical model, the preoperative carcinoembryonic antigen (CEA) level, tumor diameter, and spiculation were the independent predictors. The combined model containing the independent predictors and the GPT-Radscore significantly predicted LVI in patients with invasive LUAD, with AUCs of 0.84, 0.82, and 0.77 in the three cohorts, respectively.
Conclusion: The CT scan-based radiomics model which including intratumoral and peritumoral radiomics features can effectively predict LVI in LUAD，and the predictive efficacy is further improved by combining clinically independent predictors.
Pan-cancer gene set discovery via scRNA-seq for optimal deep learning based downstream tasks
Authors: Jang Jongseong , KIM JONG HYUN 
Published: August 2024

Abstract

The application of machine learning to transcriptomics data has led to significant advances in cancer research. However, the high dimensionality and complexity of RNA sequencing (RNA-seq) data pose significant challenges in pan-cancer studies. This study hypothesizes that gene sets derived from single-cell RNA sequencing (scRNA-seq) data will outperform those selected using bulk RNA-seq in pan-cancer downstream tasks. We analyzed scRNA-seq data from 181 tumor biopsies across 13 cancer types. High-dimensional weighted gene co-expression network analysis (hdWGCNA) was performed to identify relevant gene sets, which were further refined using XGBoost for feature selection. These gene sets were applied to downstream tasks using TCGA pan-cancer RNA-seq data and compared to six reference gene sets and oncogenes from OncoKB evaluated with deep learning models, including multilayer perceptrons (MLPs) and graph neural networks (GNNs). The XGBoost-refined hdWGCNA gene set demonstrated higher performance in most tasks, including tumor mutation burden assessment, microsatellite instability classification, mutation prediction, cancer subtyping, and grading. In particular, genes such as DPM1, BAD, and FKBP4 emerged as important pan-cancer biomarkers, with DPM1 consistently significant across tasks. This study presents a robust approach for feature selection in cancer genomics by integrating scRNA-seq data and advanced analysis techniques.
Identification of a new frameshift homozygous variant of PEX3 gene in a preterm infant with profound global developmental delay and bilateral ptosis: a case report and update literature review
Authors: Su Jinfeng , Tao Yingbo , Zhang Lian , Luo Jun 
Published: August 2024

Abstract

Background Loss-of-function mutations in PEX3 have been associated with Zellweger syndrome (ZS), a severe form of peroxisome biogenesis disorders (PBD, OMIM: 601539) characterized by significant global developmental delay, muscle weakness with bilateral ptosis, cholestasis, hypotonia, and seizures. ZS can be life-threatening if manifested in the neonatal period.
Case presentation This study presents a unique case of a male infant with severe ZS whose condition deteriorated despite intensive supportive treatment. Through whole exome sequencing, an intronic variant NM 003630.2:c.288-10T>A, located 10 nucleotides before exon 4 of the PEX3 gene, was identified. Sanger sequencing revealed a homozygous variant in the infant and a heterozygous variant in both parents. Further analysis using reverse transcription-polymerase chain reaction (RT-PCR) and immunofluorescence confirmed the abnormal transcript of the PEX3gene caused by a frameshift variant resulting from the PEX3 gene c.288-10T>A mutation. This modification led to a splicing error that deleted exon 4, causing a direct splicing of exons 3 and 5. This alteration produced a truncated protein comprising 32 incorrect amino acids.
Conclusions We here report the first case of severe Zellweger spectrum disorders (ZSDs) due to the PEX3 [c.288-10T>A: p.F97Pfs*33] variant in China. This study broadens the known range of severe ZSDs due to PEX3 pathogenic variants.
Improving Therapeutic Decision-Making through Risk-stratification of Severe COVID-19 Patients
Authors: Savvopoulos Symeon , Papadopoulou Anastasia , Karavalakis Georgios , Sakellari Ioanna , Georgolopoulos Grigorios , Yannaki Evangelia , Hatzikirou Haralampos 
Published: August 2024

Abstract

The advent of cellular therapies, particularly the use of SARS-CoV-2-specific T cells (CoV-2-STs), offers a promising avenue for the treatment of severe COVID-19. Presice stratification of COVID-19 patients is essential to identify those at high risk who may benefit from intensive therapeutic strategies. Utilizing longitudinal biomarker data from a randomized phase 1–2 trial which was implemented during the delta COVID-19 variant and compared the efficacy of treatment with CoV-2-STs plus standard-of-care (SoC) against SoC alone in severe COVID-19 patients, we conducted a post hoc, linear discriminant analysis to identify severely infected patients at increased risk of deterioration. We developed a feature importance strategy to detect key determinants influencing patient outcomes post-treatment. Our results demonstrated that crucial biological classifiers could predict treatment response with over 87% accuracy, validated through multiple-fold cross-validation. This predictive model suggested that the survival of the SoC-only, control group, patients, could have been improved by 30%, if they had received CoV-2-STs therapy. Additionally, in order to aid therapeutic decision-making, we generated a computational tool, capable of identifying those patients in whom an additional to SoC intervention, may be required to avert adverse outcomes. Overall, this computational approach represents a step forward in personalized medicine, offering a new perspective on the stratification and management of severe COVID-19 patients.
The role of anxiety and depressive symptoms in the longitudinal relationship between body image and disordered eating behaviors among Tibetan young adults: a moderating serial mediation model
Authors: Wu Ruipeng , Huang Yeen , Yan Xinya , Wang Yingting , Zhu Minxia , Chen Xiangjun , Guang Zixuan , Niu Qiong , Lu Ciyong , Wang Shaokang 
Published: August 2024

Abstract

Background: Body image significantly impacts emotional and behavioral health. This study investigates the relationship between body image dissatisfaction and disordered eating behaviors (DEBs) among Tibetan young adults, considering the mediating roles of anxiety and depression and the moderating role of ethnicity.
Methods: A longitudinal survey was conducted among 2993 first- and second-year university students in Tibet, with initial data collection in September 2021 and follow-up in December 2021. Participants completed standardized questionnaires assessing body image, anxiety, depression, and DEBs. Statistical analyses included t-tests, ANOVA, Pearson correlation, and moderated serial mediation using the PROCESS macro.
Results: Body image satisfaction significantly negatively predicted DEBs (β= -0.031, 95% CI = -0.061~-0.001). Anxiety and depression independently and sequentially mediated this relationship (a1b1 = -0.008, 95% CI = -0.015~-0.001; a2b2 = -0.005, 95% CI = -0.010~-0.001; a1db2 = -0.017, 95% CI = -0.026~-0.009). Ethnicity moderated the direct effect, with body image significantly predicting DEBs among Tibetan students but not Han Chinese students.
Conclusions: This study highlights the critical roles of anxiety and depression in the link between body image and DEBs and the moderating effect of ethnicity. These findings suggest targeted interventions addressing body image and emotional health to mitigate DEBs, especially in ethnic minority populations.
Crude Oil Pre-refining Life Cycle Assessment to Compare the Effect of Energy Optimization– a Case Study of Cheshmeh Khosh Oil Operational Area in Iran
Authors: Naseri Kioumars , Noorpoor Alireza , Razavian Fatemeh , Khoshmanesh Behnoush 
Published: August 2024

Abstract

Purpose
One of the most eminent future challenges for humans is supplying energy needs. Therefore, the high energy consumption and resource discharge rate in industrial processes makes comparison and optimization of life cycle process assessment effective in quantifying the resource and energy consumption in different parts of the process.
Methods
First, the process is simulated using HYSIS software, and a life cycle assessment is performed using SIMAPRO software. Then, a suitable scenario is conducted to reduce exergy loss and energy management in the production unit, accompanied by a re-simulation and assessment of the life cycle. Finally, a comparison between the two states is performed using SIMAPRO software.
Results and discussion
evidently, comparing the life cycle assessment process between the two states (before and after optimization) by First Order Analysis shows that Non-Renewable fossil-resource consumption PJ 1398650.657 MJ and the total degradation of energy consumption 0.001407016 PJ decreased. In addition, using Second Order Analysis, Non-Renewable fossil-resources consumption of 1379623.728 MJ and total degradation of energy consumption of 0.001384628 PJ decreased.
Conclusions
The combination of simulation and assessment of the crude oil processing and optimization life cycle reduces energy consumption, pollutants emissions, and economic costs. It also increases production. Exergy loss compared to before optimization was reduced by 27.93%. Besides, crude oil production will increase by 55,658 liters per day (350 barrels per day) which is worth 23,300$.
The study explores the correlation between cultural influence and community engagement in fostering social safety for tourists.
Authors: HOSSAIN SAZIB , HENA HASNA 
Published: August 2024

Abstract

The tourism industry in China is booming, and the relationship between cultural influence and community engagement (CICE) is crucial for tourists' safety. This study explores the relationship between CICE, cultural norm dynamics, social cooperation, and crisis perceptions of local communities in ensuring tourists' safety. The research uses netnography and social media content analysis to analyze cultural artifacts, utilizing data from diverse regions. The study reveals that traditional Chinese values, social norms, and practices influence safety perceptions among tourists. Cultural nuances influence community attitudes towards tourism safety, which manifest in local residents' engagement. Community engagement is essential for the social construction of safety, as local residents' willingness to participate in safety measures significantly shapes the overall tourism experience. The study provides valuable insights for policymakers, tourism industry stakeholders, and community leaders to enhance tourists' safety in China. It aims to provide practical recommendations for a safer and culturally enriching tourism environment in China's diverse landscapes.
Granulomatous Amebic Encephalitis by Balamuthia mandrillaris in Pediatrics: Description of Seven Cases in an Institution
Authors: Badaloni Maria eugenia , Blanco Rodrigo A , Marcelo Bartuluchi , Gisela Pascuetin , argañaraz romina alejandra 
Published: August 2024

Abstract

Introduction
Granulomatous amebic encephalitis (GAE) caused by Balamuthia mandrillaris is a rare and frequently fatal infection of the central nervous system (CNS), especially in pediatric patients.
Objective
To describe a series of seven pediatric cases of GAE caused by Balamuthia mandrillaris and analyze the current literature on this pathology.
Materials and Methods
A retrospective review of pediatric cases diagnosed with GAE by Balamuthia mandrillaris at the Hospital de Pediatría J.P. Garrahan between 2000 and 2023 was conducted. Clinical, radiological, histopathological data, and therapeutic management of these patients were analyzed. A literature search was conducted in the virtual library Pub-Med in high-impact factor journals.
Results
Of the seven cases analyzed, six underwent biopsy and died despite receiving required treatment. The only survivor to date was the patient who had the amebic granuloma completely removed, including the capsule, and completed specific antiparasitic treatment.
Conclusion
GAE by Balamuthia mandrillaris has an extremely high mortality rate in pediatric patients, occurring very shortly after the onset of the disease. In this case series, we have demonstrated that the complete surgical resection of the granulomatous lesion allowed the patient to remain disease-free with a seven-month follow-up.
Examining the Effectiveness of the PAX-Good Behaviour Game in Improving the Mental Health and Academic Outcomes of First Nations Children in Canada: A Clustered Randomized Controlled Trial Using Administrative Data
Authors: Chartier Mariette , Turner Frank , Jiang Depeng , Au Wendy , McCulloch Scott , Brownell Marni , Santos Robert , Murdock Nora , Martinson Amanda , Boyd Leanne , Bolton James , Sareen Jitender 
Published: August 2024

Abstract

Purpose PAX Good Behaviour Game (PAX-GBG), a school-based mental health promotion approach, has been shown to improve children’s mental health outcomes and academic achievement. Given that these effects have yet to be shown in Indigenous populations, a partnership with First Nations communities was created to evaluate PAX-GBG’s effectiveness among First Nations children living in Canada.Methods In this clustered randomized controlled trial, we used population-based administrative data that allowed de-identified individual-level linkages. Our cohort from 20 First Nations schools was randomized to PAX-GBG (n = 469, 11 schools) or wait-list control (n = 256, 9 schools). We used multi-level regression modeling and propensity score weighting to estimate group differences in mental health and academic outcomes over time (2011–2020).Results PAX-GBG group children had significantly greater decreases in conduct problems (β:-1.08, standard error(se):0.2505, p < .0001), hyperactivity (β:-1.13, se:0.3617, p = .0018), and peer problems (β:-1.10, se:0.3043, p = .0003) and a greater increase in prosocial scores (β:2.68, se:0.4139, p < .0001) than control group children. The percentage of PAX-GBG group children meeting academic expectations was higher than control group children. However, only third-grade numeracy (odds ratio (OR):4.30, confidence interval (CI):1.34–13.77) and eighth-grade reading and writing (OR:2.78, CI:1.01–7.67) were statistically significant. We found no evidence that PAX-GBG was associated with less emotional problems, diagnosed mental disorders, or greater student engagement.Conclusion These findings suggest that PAX-GBG was effective in improving First Nations children’s mental health and academic outcomes. Examining what works in Indigenous communities is crucial because approaches that are effective in some populations may not be culturally appropriate for others.
A two-sample Mendelian randomization study to explore the causal relationship between immune inflammatory factors and systemic lupus erythematosus
Authors: Zhang Mingying , He Junbing , Lin Zhibin , Cai Yubin , Wu Gengmao , Zhong Xiaoze , Liu Weijun , Lin Yuan , Qiu Zhanyi , Liang Ruihuang , Wu Wuzhong , Liu Qinghua , Wu Kefei 
Published: August 2024

Abstract

Background
The effect of inflammatory factors on systemic lupus erythematosus has now been widely recognized, however, causal relationship between inflammatory factors and SLE pathogenesis is uncertain.
Methods
Aggregate statistics for each inflammatory factor and immune feature are publicly available from the Genome-Wide Association Study catalog. This dataset includes a total of 91 inflammatory factors and 731 immune phenotypes, The initial GWAS of immune features used data from 3,757 individuals of European descent. Correlations were examined after adjusting for covariates. The overall impact of inflammatory on SLE can be dissected into the direct and indirect effects. The inverse variance weighing method is a standard MR method for causal analysis. Sensitivity analysis was also perform to optimize the reliability and accuracy of the results.
Results
Potential association was identified between the levels of caspase 8, fractalkine, IL-2, signaling lymphocytic activation molecule (SLAM), T cell surface glycoprotein CD8 isoform, TNF ligand superfamily member 14, and TNF receptor superfamily member 9 (TNFRSF9) and SLE occurrence.(P<0.05). Among 28 immune features analyzed, Nine and nineteen exhibited a positive and negative causal relationship with SLE. When selecting the inflammatory factors with the most significant P-values and 28 immune features in the MR analysis. IL-2 levels was significantly associated with increased SLE risk ( P = 0.029, β = 0.41, OR = 1.508, 95% CI = 1.040–2.185). Total effect of IL-2 levels on SLE was 0.410, The breakdown of this effect yielded an indirect effect of 0.024, mediated through the percentage of CD25hi CD45RA− CD4+ Tregs, and a direct effect of 0.386 with a mediation rate of 6.05%. MR-Egger intercept test showed that there was no significant horizontal pleiotropy (P > 0.05) among the IVs. Sensitivity analysis supported the validity of the analysis.
Conclusions
These study exhibited causal associations between Caspase 8, fractalkine, IL-2, SLAM, T cell surface glycoprotein CD8 isoform, TNF ligand superfamily member 14, and TNFRSF9 and the etiology of SLE. Immune features are probably involved in this process. Our study suggested that IL-2 may mediated through new regulatory mechanism and may likely be potential therapeutic targets for SLE.