bluuebunny/crossref_metadata_2025_split huggingface dataset:
Multi-omics evaluation of the prognostic value and immune signature of FCN1 in pan-cancer and its relationship with proliferation and apoptosis in acute myeloid leukemia
Authors: Zhong Fangfang , Song Lijun , li Hao , Liu Jing , Liu Chunyan , Guo Qulian , Liu Wenjun 
Published: July 2024

BackgroundThe FCN1 gene encodes the ficolin-1 protein, implicated in the pathogenesis of various diseases, though its precise role in tumorigenesis remains elusive. This study aims to elucidate the prognostic significance, immune signature, and treatment response associated with FCN1 across diverse cancer types.MethodsEmploying multi-omics data, we conducted a comprehensive assessment, encompassing tissue-specific and single-cell-specific expression disparities, pan-cancer expression patterns, epigenetic modifications affecting FCN1 expression, and the immune microenvironment. Our investigation primarily focused on the clinical prognostic attributes, immune profiles, potential molecular mechanisms, and candidate therapeutic agents concerning FCN1 and acute myeloid leukemia (AML). Additionally, in vitro experiments were performed to scrutinize the impact of FCN1 knockdown on cell proliferation, apoptosis, and cell cycle dynamics within the AML cell line U937 and NB4.ResultsFCN1 expression exhibits widespread dysregulation across various cancers. Through both univariate and multivariate Cox regression analyses, FCN1 has been identified as an independent prognostic indicator for AML. Immunological investigations elucidate FCN1’s involvement in modulating inflammatory responses within the tumor microenvironment and its correlation with treatment efficacy. Remarkably, the deletion of FCN1 influences the proliferation, apoptosis, and cell cycle dynamics of U937 cells and NB4 cells.ConclusionThese findings underscore FCN1 as a promising pan-cancer biomarker indicative of macrophage infiltration, intimately linked with the tumor microenvironment and treatment responsiveness, and pivotal for cellular mechanisms within AML cell lines.
Multi-omics analysis of overexpressed tumor-associated proteins: gene expression, immunopeptide presentation, and antibody response in oropharyngeal squamous cell carcinoma, with a focus on cancer-testis antigens
Authors: Abou Kors Tsima , Meier Matthias , Mühlenbruch Lena , Betzler Annika C. , Oliveri Franziska , Bens Martin , Thomas Jaya , Kraus Johann M. , Doescher Johannes , von Witzleben Adrian , Hofmann Linda , Ezic Jasmin , Huber Diana , Benckendorff Julian , Barth Thomas F. E. , Greve Jens , Schuler Patrick J. , Brunner Cornelia , Blackburn Jonathan M. , Hoffmann Thomas K. , Ottensmeier Christian , Kestler Hans A. , Rammensee Hans-Georg , Walz Juliane S. , Laban Simon 
Published: July 2024

IntroductionThe human leukocyte antigen complex (HLA) is essential for inducing specific immune responses to cancer by presenting tumor-associated peptides (TAP) to T cells. Overexpressed tumor associated antigens, mainly cancer-testis antigens (CTA), are outlined as essential targets for immunotherapy in oropharyngeal squamous cell carcinoma (OPSCC). This study assessed the degree to which presentation, gene expression, and antibody response (AR) of TAP, mainly CTA, are correlated in OPSCC patients to evaluate their potential as immunotherapy targets.Materials and methodsSnap-frozen tumor (NLigand/RNA=40), healthy mucosa (NRNA=6), and healthy tonsils (NLigand=5) samples were obtained. RNA-Seq was performed using Illumina HiSeq 2500/NovaSeq 6000 and whole exome sequencing (WES) utilizing NextSeq500. HLA ligands were isolated from tumor tissue using immunoaffinity purification, UHPLC, and analyzed by tandem MS. Antibodies were measured in serum (NAb=27) utilizing the KREX™ CT262 protein array. Data analysis focused on 312 proteins (KREX™ CT262 panel + overexpressed self-proteins).Results183 and 94 of HLA class I and II TAP were identified by comparative profiling with healthy tonsils. Genes from 26 TAP were overexpressed in tumors compared to healthy mucosa (LFC&gt;1; FDR&lt;0.05). Low concordance (r=0.25; p&lt;0.0001) was found between upregulated mRNA and class I TAP. The specific mode of correlation of TAP was found to be dependent on clinical parameters. A lack of correlation was observed both between mRNA and class II TAP, as well as between class II tumor-unique TAP (TAP-U) presentation and antibody response (AR) levels.DiscussionThis study demonstrates that focusing exclusively on gene transcript levels fails to capture the full extent of TAP presentation in OPSCC. Furthermore, our findings reveal that although CTA are presented at relatively low levels, a few CTA TAP-U show potential as targets for immunotherapy.
Efgartigimod as a promising add-on therapy for myasthenic crisis: a prospective case series
Authors: Song Jie , Wang Haiyan , Huan Xiao , Jiang Qilong , Wu Zongtai , Yan Chong , Xi Jianying , Zhao Chongbo , Feng Huiyu , Luo Sushan 
Published: July 2024

IntroductionEfgartigimod is effective and well-tolerated in patients with anti-acetylcholine receptor (AChR) antibody-positive generalized myasthenia gravis (MG). However, the therapeutic potential and the safety profile of efgartigimod in myasthenic crisis (MC) remained largely unknown.MethodsThis is an observational, prospective, multicenter, real-world study to follow 2 MC patients who initiated efgartigimod as a first-line rescue therapy and 8 cases who used it as an add-on therapy. Baseline demographic features and immunotherapies were collected, and the MG-activities of daily living (MG-ADL) scale was evaluated every week since efgartigimod treatment for 8 weeks. Additionally, serum IgG and anti-AChR antibody levels and the peripheral CD4+ T lymphocytes were measured before and after one cycle of treatment.ResultsTen patients with MC were enrolled in the study, including 9 anti-AChR antibody positive and 1 anti-muscle-specific kinase (MuSK) positive. All patients were successfully weaned from the ventilation after receiving efgartigimod treatment, with a length of 10.44 ± 4.30 days. After one cycle of infusions, the MG-ADL score reduced from 15.6 ± 4.4 at the baseline to 3.4 ± 2.2, while the corticosteroid dose was tapered from 55.0 ± 20.7 mg to 26.0 ± 14.1 mg. The proportions of regulatory T cells and naïve T cells (% in CD4+ T) significantly decreased post-efgartigimod treatment (5.48 ± 1.23 vs. 6.90 ± 1.80, P=0.0313, and 34.98 ± 6.47 vs. 43.68 ± 6.54, P=0.0313, respectively).ConclusionThese findings validated the rapid action of efgartigimod in facilitating the weaning process with a good safety profile in patients with MC.
Association between endometriosis and arthritis: results from NHANES 1999-2006, genetic correlation analysis, and Mendelian randomization study
Authors: Xu Huanying , Zou Haoxi , Wen Qidan , Xing Xiaoyan , Xu Ningning , Wu Suzhen 
Published: July 2024

BackgroundPrevious studies reported that endometriosis may have a higher risk of arthritis. However, it remains unclear whether the association between endometriosis and arthritis has genetic correlations, or the relationship is causal. Linkage Disequilibrium Score (LDSC) and Mendelian Randomization (MR) analyses use genetic variation as a natural experiment to explore genetic correlations and causal inferences from observational data, reducing unmeasured confounding factors.MethodParticipants (aged 20-54 years, n = 2,915) for the cross-sectional study were obtained from the National Health and Nutrition Examination Survey (NHANES). Endometriosis and arthritis were diagnosed based on self-reported by reproductive health and medical condition questionnaire. Weighted multivariable logistic regression was used to explore the relationship between endometriosis and arthritis. LDSC and MR analysis were performed using the genome-wide association study (GWAS) summary statistics to identify the causal association.ResultA significant positive association between endometriosis and arthritis was found after multivariable adjustment (OR = 1.89; 95% CI: 1.33, 2.67). When exploring different types of arthritis, a positive association was revealed with rheumatoid arthritis (RA), other types of arthritis, and cases that the arthritis type were unknown, with an OR of 2.07 (95% CI: 1.03, 4.17), 2.78 (95% CI: 1.30, 5.95), and 2.06 (95% CI: 1.36, 3.11), respectively. However, genetic correlation analysis between endometriosis and RA did not reveal any significant findings (all P values &gt; 0.05). Moreover, MR analysis also failed to identify a causal relationship between endometriosis and RA (all P values &gt; 0.05).ConclusionCross-sectional study identified a significant positive association between endometriosis and arthritis among US women, especially among RA, while findings based on LDSC and MR analysis did not support a genetic correlation or causal role. These findings suggest that clinicians should pay more attention to the coexistence of RA in endometriosis patients and explore the shared pathophysiological mechanisms of these two disorders, with a particular focus on extrinsic factors rather than intrinsic genetic inheritance.
Identification of diagnostic genes and drug prediction in metabolic syndrome-associated rheumatoid arthritis by integrated bioinformatics analysis, machine learning, and molecular docking
Authors: Huang Yifan , Yue Songkai , Qiao Jinhan , Dong Yonghui , Liu Yunke , Zhang Meng , Zhang Cheng , Chen Chuanliang , Tang Yuqin , Zheng Jia 
Published: July 2024

BackgroundInteractions between the immune and metabolic systems may play a crucial role in the pathogenesis of metabolic syndrome-associated rheumatoid arthritis (MetS-RA). The purpose of this study was to discover candidate biomarkers for the diagnosis of RA patients who also had MetS.MethodsThree RA datasets and one MetS dataset were obtained from the Gene Expression Omnibus (GEO) database. Differential expression analysis, weighted gene co-expression network analysis (WGCNA), and machine learning algorithms including Least Absolute Shrinkage and Selection Operator (LASSO) regression and Random Forest (RF) were employed to identify hub genes in MetS-RA. Enrichment analysis was used to explore underlying common pathways between MetS and RA. Receiver operating characteristic curves were applied to assess the diagnostic performance of nomogram constructed based on hub genes. Protein−protein interaction, Connectivity Map (CMap) analyses, and molecular docking were utilized to predict the potential small molecule compounds for MetS-RA treatment. qRT-PCR was used to verify the expression of hub genes in fibroblast-like synoviocytes (FLS) of MetS-RA. The effects of small molecule compounds on the function of RA-FLS were evaluated by wound-healing assays and angiogenesis experiments. The CIBERSORT algorithm was used to explore immune cell infiltration in MetS and RA.ResultsMetS-RA key genes were mainly enriched in immune cell-related signaling pathways and immune-related processes. Two hub genes (TYK2 and TRAF2) were selected as candidate biomarkers for developing nomogram with ideal diagnostic performance through machine learning and proved to have a high diagnostic value (area under the curve, TYK2, 0.92; TRAF2, 0.90). qRT-PCR results showed that the expression of TYK2 and TRAF2 in MetS-RA-FLS was significantly higher than that in non-MetS-RA-FLS (nMetS-RA-FLS). The combination of CMap analysis and molecular docking predicted camptothecin (CPT) as a potential drug for MetS-RA treatment. In vitro validation, CPT was observed to suppress the cell migration capacity and angiogenesis capacity of MetS-RA-FLS. Immune cell infiltration results revealed immune dysregulation in MetS and RA.ConclusionTwo hub genes were identified in MetS-RA, a nomogram for the diagnosis of RA and MetS was established based on them, and a potential therapeutic small molecule compound for MetS-RA was predicted, which offered a novel research perspective for future serum−based diagnosis and therapeutic intervention of MetS-RA.
Association between RC/HDL-C ratio and risk of non-alcoholic fatty liver disease in the United States
Authors: Xuan Yanyan , Hu Weike , Wang Yudan , Li Jingwen , Yang Lisha , Yu Songping , Zhou Dongdong 
Published: July 2024

BackgroundThe occurrence of non-alcoholic fatty liver disease (NAFLD) is increasing worldwide. The link between serum remnant cholesterol (RC) to high-density lipoprotein cholesterol (HDL-C) ratio and NAFLD remains unclear. Therefore, we sought to clarify the relationship between the RC/HDL-C ratio and the NAFLD.MethodsData for our cross-sectional study came from the 2017–2018 National Health and Nutrition Examination Survey (NHANES) with 2,269 participants. Associations between RC/HDL-C levels and the prevalence of NAFLD and hepatic fibrosis were evaluated using adjusted multivariate logistic regression analyses. A generalized additive model examined the non-linear relationship between RC/HDL-C and the probability of developing NAFLD.ResultsAmong 2,269 participants, 893 (39.36%) were diagnosed with NAFLD. In each of the three models, RC/HDL-C and NAFLD had a strong positive statistical relationship: model 1 (OR = 9.294, 95%CI: 6.785, 12.731), model 2 (OR = 7.450, 95%CI: 5.401, 10.278), and model 3 (OR = 2.734, 95%CI: 1.895, 3.944). In addition, the subgroup analysis by gender and BMI suggested that RC/HDL-C showed a positive correlation with NAFLD. The RC/HDL-C ratio was positively correlated with the degree of liver steatosis. There was an inverted U-shaped connection between the prevalence of NAFLD and RC/HDL-C, with an inflection point of 0.619 for all participants and 0.690 for men. Receiver operating characteristic (ROC) analysis showed that the predictive value of RC/HDL-C for NAFLD (area under the curve: 0.7139; 95%CI: 0.6923, 0.7354; P &lt; 0.001), was better than traditional lipid parameters.ConclusionIncreased RC/HDL-C levels are independently associated with an increased risk of NAFLD and the severity of liver steatosis in the American population. In addition, the RC/HDL-C ratio can be used as a simple and effective non-invasive biomarker to identify individuals with a high risk of NAFLD.
Bioactive profiling of Rumex vesicarius L. from the Hail region of Saudi Arabia: a study on its phytochemical and elemental analysis, antibiofilm, antibacterial, antioxidant properties, and molecular docking analysis
Authors: Sulieman Abdel Moneim Elhadi , Abdallah Emad M. , Alanazi Naimah Asid , Idriss Hajo , Adnan Mohd , Jamal Arshad , Shommo Sohair A. M. , Snoussi Mejdi 
Published: July 2024

BackgroundRumex vesicarius is a wild leafy plant belonging to the family Polygonaceae, renowned for its therapeutic benefits. The genus Rumex comprises approximately 150 species distributed globally.ObjectiveThe study aimed to investigate the biological activities of R. vesicarius using in vitro and in silico methods.MethodsRumex vesicarius was collected from the mountains in Hail and extracted with methanol. The phytochemical composition was qualitatively determined using colorimetric detection methods. Additional analyses included elemental analysis, in silico docking, antioxidant, antibacterial, and anti-biofilm properties.ResultsThe extract contained various classes of phytochemicals, including flavonoids, phenolics, tannins, terpenes, and saponins. Sixteen constituents were identified through molecular docking, revealing inhibition against the filamentous temperature-sensitive protein Z (FtsZ), a crucial factor in bacterial cell division. Six compounds exhibited low binding scores ranging from −8.3 to −5.0 kcal/mol, indicating efficient interaction at the active site. Elemental analysis identified 15 elements, with potassium being the most abundant, followed by calcium, aluminum, silicon, iron, phosphorus, sulfur, magnesium, titanium, strontium, zinc, manganese, bromine, and chromium. Antioxidant analysis revealed significant properties at lower concentrations compared to ascorbic acid, butylated hydroxytoluene, and β-carotene. Antibacterial analysis demonstrated inhibitory effects on Bacillus subtilis MTCC121 and Pseudomonas aeruginosa MTCC 741, with inhibition zones of 13.67 ± 1.0 mm and 11.50 ± 1.0 mm, respectively. The MIC and MBC values ranged from 250 to 500 μg/mL. R. vesicarius also exhibited anti-biofilm activity.ConclusionWild-grown R. vesicarius from the mountains of Hail is rich in bioactive phytochemicals and essential minerals, exhibiting notable antioxidant and antibacterial properties.
Factors influencing quality of life in extratemporal lobe epilepsy and mesial temporal lobe epilepsy: a cross-sectional study using medical records
Authors: Annaka Hiroki , Nomura Tomonori , Hasegawa Naoya 
Published: July 2024

ObjectiveThis study aimed to examine differences in factors influencing quality of life (QOL) in people with extratemporal lobe epilepsy (ETLE) and mesial temporal lobe epilepsy (MTLE).MethodsWe obtained data from the medical records of 84 (47 ETLE and 37 MTLE) people with epilepsy. The data included age, sex, employment, seizure frequency, number of antiseizure medication (ASM), Neurological Disorders Depression Inventory for Epilepsy (NDDI-E) score, and Quality of Life in Epilepsy Inventory-31 (QOLIE-31) score. Multiple regression analyses were performed using QOLIE-31 as the dependent variable and age, sex, employment, seizure frequency, number of ASM, and NDDI-E score as the independent variables in ETLE or MTLE.ResultsFrom the results of the multiple regression analyses, QOLIE-31 in ETLE was associated with NDDI-E (β = −0.757, p &lt; 0.001) and employment (β = 0.388, p = 0.008). Meanwhile, QOLIE-31 in MTLE was associated with NDDI-E (β = −0.625, p &lt; 0.001), employment (β = 0.396, p = 0.041), and number of ASMs (β = −0.399, p = 0.018).ConclusionOverall, our findings indicate that the number of ASMs is potentially an influence on QOL of MTLE but similar effect is not observed in ETLE.
Balance performance of healthy young individuals in real versus matched virtual environments: a systematic scoping review
Authors: Schedler Simon , Gramann Klaus , Hill Mathew W. , Muehlbauer Thomas 
Published: July 2024

BackgroundDue to technological advancements and the development of consumer-oriented head mounted displays (HMDs), virtual reality (VR) is used in studies on balance performance and balance trainability more and more frequently. Yet, it may be assumed that balance performance is affected by the physical characteristics of the HMD (e.g., weight) as well as by the virtual visual environment. Moreover, it has been shown that balance is age-dependent with children and adolescents showing worse performances compared to young adults, which may also affect their balance performance in virtual environments.ObjectivesThe present systematic scoping review aims to provide an overview on the current evidence regarding balance performance of healthy, young individuals (6–30 years) in real and matched virtual environments.MethodsA systematic literature search in the electronic databases PubMed, Web of Science, and SPORTDiscus (from their inception date to February 2024) resulted in 9,554 studies potentially eligible for inclusion. Eligibility criteria were: (i) investigation of healthy, young individuals (6–30 years), (ii) balance assessment in the real and a matched virtual environment, (iii) use of a fully immersive HMD, (iv) reporting of at least one balance parameter. A total of 10 studies met the predefined inclusion criteria and were thus included in this review. All studies were conducted with healthy, young adults (19–30 years).ResultsFive studies assessed static balance, four studies quantified dynamic balance, and one study measured static as well as dynamic balance performance. In healthy young adults, static balance performance was similar with and without VR during simple standing tasks (e.g., two-legged stance), but worse in VR during more challenging tasks (e.g., one-legged stance). Concerning dynamic balance, four out of five studies reported worse performance in VR, while one study did not find differences between visual environments. Most importantly, none of the studies investigating healthy children (6–12 years) and/or adolescents (13–18 years) met the predefined inclusion criteria.ConclusionIn healthy young adults, balance performance seems to be affected by VR only during challenging static (e.g., one-legged stance) as well as during dynamic balance tasks. The underlying causes remain unclear, but factors such as perceived presence in VR, a shift in sensory organization and/or perceptual distortion may play a role. Of particular importance is the finding that there is a void in the literature on the influence of VR on balance performance of healthy children and adolescents.
Effects of Portulaca oleracea (purslane) on liver function tests, metabolic profile, oxidative stress and inflammatory biomarkers in patients with non-alcoholic fatty liver disease: a randomized, double-blind clinical trial
Authors: Milkarizi Narges , Barghchi Hanieh , Belyani Saba , Bahari Hossein , Rajabzade Farnood , Ostad Andisheh Norouzian , Goshayeshi Ladan , Nematy Mohsen , Askari Vahid Reza 
Published: July 2024

BackgroundNon-alcoholic fatty liver disease (NAFLD) is a prevalent chronic liver disease. Portulaca oleracea exhibits anti-oxidant, anti-inflammatory, and hepatoprotective effects. This clinical trial aimed to investigate the potential benefits of Portulaca oleracea in improving NAFLD.MethodsThis double-blind, randomized clinical trial enrolled 70 patients with NAFLD assigned to either the intervention group (n = 35) or placebo group (n = 35) using stratified block randomization. The intervention group received 700 mg Portulaca oleracea supplement for eight weeks, while the control group received placebo capsules. In addition, all participants received a calorie-restricted diet. Liver steatosis and fibrosis were assessed using elastography along with liver function and metabolic tests, blood pressure measurements, body composition analysis and dietary records pre-and post-intervention.ResultsThe average age of the participants was 44.01 ± 8.6 years, of which 34 (48.6%) were women. The group receiving Portulaca oleracea showed significant weight changes, body mass index, fat mass index, and waist circumference compared to the placebo (p &lt; 0.001). In addition, blood sugar, lipid profile, liver enzymes aspartate and alanine transaminase, gamma-glutamyl transferase, and systolic blood pressure were significantly improved in the intervention group compared to those in the placebo (p &lt; 0.05). During the study, inflammatory and oxidative stress indicators, improved significantly (p &lt; 0.05). Based on the elastography results, the hepatorenal ultrasound index and liver stiffness decreased significantly in the Portulaca oleracea group compared to the placebo (p &lt; 0.001).ConclusionThe present clinical trial showed that receiving Portulaca oleracea supplement for eight weeks can improve the condition of liver steatosis and fibrosis in patients with NAFLD.
Risk factors of malnutrition in children with congenital heart disease: a meta-analysis
Authors: Zhang Chen , Xu Banghong , Zhu Cuiying , Pu Kai , Bian Lanzheng 
Published: July 2024

BackgroundThe associated factors of malnutrition in children with congenital heart disease (CHD) must be evaluated to provide evidence for the treatment and care of such children.MethodsTwo investigators searched the PubMed database until 25 June 2023 for literature about the associated factors of malnutrition in children with CHD. A meta-analysis of associated factors of malnutrition was performed by RevMan 5.3 software.ResultsThirteen studies involving 8,031 children with CHD were included. Pulmonary hypertension (OR = 3.81, 95% CI: 2.46–4.12), low birth weight (OR = 2.69, 95% CI: 1.25–5.77) and parents’ height (OR = 2.15, 95% CI: 1.89–2.92) were the associated factors of growth retardation (all P &lt; 0.05). Pulmonary hypertension (OR = 3.77, 95% CI: 3.13–4.24), low birth weight (OR = 3.04, 95% CI: 2.61–4.18) and pneumonia (OR = 2.35, 95% CI: 2.08–2.83) were the associated factors of low body weight of children with CHD (all P &lt; 0.05).ConclusionsMedical staff should fully understand the risk factors, strengthen nutritional support and enhance nursing care for children with CHD to reduce malnutrition.