bluuebunny/crossref_metadata_2025_split huggingface dataset:
A case report of oculopharyngodistal myopathy with 126 CGG repeat expansions in RILPL1
Authors: Wang Wenjing , Yin Tielun , Zhang Xinyu , Wang Zhaoxia , Wang Tianyun , Zhang Shuo , Zhang Yingshuang , Fan Dongsheng 
Published: February 2025

BackgroundOculopharyngodistal myopathy (OPDM) is a rare hereditary muscle disease characterized by progressive ptosis, ophthalmoplegia, dysphagia, dysarthria, and distal muscle weakness. The genetic basis was identified in 2019 with CGG repeat expansions in the noncoding region of LRP12. Similar expansions in GIPC1, NOTCH2NLC, and RILPL1 were later linked to OPDM, classifying the disease into OPDM1-4. OPDM4, associated with RILPL1, was discovered in 2022 with a few confirmed cases worldwide, leaving its clinical features and pathogenic mechanisms largely unexplored.Case presentationWe present a patient with OPDM4 who had suffered progressive ptosis, external ophthalmoplegia, pharyngeal weakness, facial muscle weakness, and distal limb weakness over the past 20 years. Electromyography (EMG) revealed myogenic damage and normal H-reflex latency. A biopsy of the left biceps brachii revealed myogenic changes with atypical rimmed vacuoles in some muscle fibers. Screening for extra-muscular system involvement revealed no obvious involvement of the heart or central nervous system. Genetic analysis confirmed 126 CGG repeat expansions in RILPL1 and excluded abnormal CGG repeat expansions in LRP12, GIPC1, and NOTCH2NLC.ConclusionThis case broadens the spectrum of CGG repeat numbers in the RILPL1 gene associated with OPDM4. In addition, systematic medical examinations revealed several new characteristics of OPDM4, which have not been reported previously, such as normal H reflex, potential mild cognitive impairment, etc. These findings expand our knowledge of the phenotypic spectrum of diseases caused by repeat CGG expansions in RILPL1.
Identification of immune subtypes associated with CD8+ T cell-related genes providing new treatment strategies of esophageal carcinoma
Authors: Wu Youyi , Lin Chen , Qian Yuchen , Huang Xiaowei , Xu Yajing , Li Jiayi , He Youdi , Xie Congying , Su Huafang 
Published: February 2025

BackgroundCD8+ T lymphocytes greatly affect the efficacy of immunotherapy, displaying promising potential in various tumors. Here, we aimed to identify immune subtypes associated with CD8+ T cell-related genes to predict the efficacy of treatment in esophageal cancer (ESCA).MethodsWe obtained 13 immune cell-related datasets from the Gene Expression Omnibus (GEO) database and removed batch effects. Weighted correlation network analysis (WGCNA) and co-expression analysis were performed to identify highly correlated CD8+ T cell genes. Cox analysis was used to process ESCA clinical information, and the immune clusters (ICs) were constructed through consensus cluster analysis. Furthermore, we constructed an immune risk score model to predict the prognosis of ESCA based on these CD8+ T cell genes. This model was verified using the IMvigor210 dataset, and we functionally validated the immune risk score model in vitro.ResultsThe results revealed significant correlations between CD8+ T cell-related genes and immune-related pathways. Three ICs were identified in ESCA, with IC3 demonstrating the most favorable prognosis. The final 6-gene prognostic risk model exhibited stable predictive performance in datasets across different platforms. Compared with that in normal esophageal epithelial (HEEC cells), CHMP7 in the 6-gene prognostic risk model was upregulated in KYSE150 and TE-1 cells. Si-CHMP7 transfection led to a decrease in tumor cell migration, invasion, and proliferation, accompanied by an accelerated apoptotic process.ConclusionsCollectively, we identified the immune subtypes of CD8+ T cell-related genes with different prognostic significance. We designated CHMP7 in the 6-gene prognostic risk model as a potential target to improve tumor cell prognosis. These insights provide a strong basis for improving prognosis and facilitating more personalized and accurate treatment decisions for the immunotherapy of ESCA.
Identify the potential target of efferocytosis in knee osteoarthritis synovial tissue: a bioinformatics and machine learning-based study
Authors: Niu Shangbo , Li Mengmeng , Wang Jinling , Zhong Peirui , Wen Xing , Huang Fujin , Yin Linwei , Liao Yang , Zhou Jun 
Published: February 2025

IntroductionKnee osteoarthritis (KOA) is a degenerative joint disease characterized by the progressive deterioration of cartilage and synovial inflammation. A critical mechanism in the pathogenesis of KOA is impaired efferocytosis in synovial tissue. The present study aimed to identify and validate key efferocytosis-related genes (EFRGs) in KOA synovial tissue by using comprehensive bioinformatics and machine learning approaches.MethodsWe integrated three datasets (GSE55235, GSE55457, and GSE12021) from the Gene Expression Omnibus database to screen differentially expressed genes (DEGs) associated with efferocytosis and performed weighted gene co-expression network analysis. Subsequently, we utilized univariate logistic regression analysis, least absolute shrinkage and selection operator regression, support vector machine, and random forest algorithms to further refine these genes. The results were then inputted into multivariate logistic regression analysis to construct a diagnostic nomogram. Public datasets and quantitative real-time PCR experiments were employed for validation. Additionally, immune infiltration analysis was conducted with CIBERSORT using the combined datasets.ResultsAnalysis of the intersection between DEGs and EFRGs identified 12 KOA-related efferocytosis DEGs. Further refinement through machine learning algorithms and multivariate logistic regression revealed UCP2, CX3CR1, and CEBPB as hub genes. Immune infiltration analysis demonstrated significant correlations between immune cell components and the expression levels of these hub genes. Validation using independent datasets and experimental approaches confirmed the robustness of these findings.ConclusionsThis study successfully identified three hub genes (UCP2, CX3CR1, and CEBPB) with significant expression alterations in KOA, demonstrating high diagnostic potential and close associations with impaired efferocytosis. These targets may modulate synovial efferocytosis-related immune processes, offering novel therapeutic avenues for KOA intervention.
Knowledge map in biomaterials and related immune response: a scientometric analysis
Authors: Yu Chongqing , Xu Chi , Wang Tao , Xu Jie 
Published: February 2025

BackgroundBiomaterials have seen extensive use in biomedicine in the past decade. However, being foreign substances when implanted in the human body, they inevitably trigger immune responses. This study aimed to summarize existing articles on biomaterials and immune responses and explore their latest trends.MethodsWe used the Web of Science Core Collection database (WoSCC) to access literature related to biomaterials and immune response. This comprehensive review of the knowledge domain allowed us to identify potential future research directions.ResultsIn this study, we analyzed 5,993 articles on biomaterials and immune response published between 1990 and 2022. Badylak, SF, stood out with the highest number of publications, the highest h-index, and the most average citations. The Journal of Biomaterials secured the top position as the most productive journal with the highest citation count. The emerging research hotspots are centered in regeneration medicine around keywords such as “biocompatibility,” “wound healing,” “osteogenesis,” “angiogenesis,” and “bone regeneration.”ConclusionThe present study summarizes the global trends in biomaterials and immune response. Future efforts should concentrate on advancing the application of biomaterials in the medical field, conducting in-depth mechanistic studies, exploring the intricacies of immune responses, and ensuring the biosafety of biomaterials.
Preoperative imaging biomarkers combined with tap test for predicting shunt surgery outcome in idiopathic normal pressure hydrocephalus: a multicenter retrospective study
Authors: Gao Wei , Liu Wei , Ying Yuqi , Zeng Qingze , Wang Jiadong , Lin Jingquan , Guo Xinxia , Jiang Hongjie , Zheng Zhe , Zhu Zhoule , Zhu Junming 
Published: February 2025

ObjectivesThe study aims to investigate the predictive performance of preoperative imaging features combined with tap test for the outcomes of ventriculoperitoneal (VP) shunt in idiopathic normal pressure hydrocephalus (iNPH).MethodsIn this multicenter retrospective study, 166 iNPH patients who underwent VP shunt surgery between August 2019 and November 2023 were included. Preoperative clinical characteristics and imaging features were collected. Preoperative clinical assessment and at least 3 months of postoperative follow-up were performed. Multivariable logistic regression, sensitivity, specificity, and the area under the receiver operating characteristic curve (AUC) were used to evaluate predictive performance.ResultsOut of 166 total patients, 96 were responders and 70 non-responders. The tap test showed significant difference between two group (p &lt; 0.01). Multivariable logistic regression identified that a positive disproportionately enlarged subarachnoid space (DESH) sign (OR = 0.09, 95% CI: 0.04–0.22, p &lt; 0.001) and a sharper callosal angle (CA) (OR = 0.97, 95% CI: 0.95–1.00, p = 0.02) were associated with symptom improvement after shunt. The sensitivity, specificity, and AUC of tap test were 0.64, 0.60, and 0.62, respectively. Combining CA and the tap test increased sensitivity to 0.85, while combining DESH, CA, and the tap test improved specificity and AUC to 0.67 and 0.72, respectively.ConclusionThe findings suggest that the imaging features DESH and CA, when combined with the tap test, enhance the prediction of VP shunt outcomes in iNPH patients. Despite the improved predictive capability, further research focusing on innovative biomarkers for VP shunt is warranted.
Clinical, genotypic, and neuropsychological profile in a series of patients with Niemann-Pick type C disease
Authors: dos Santos Mendes Rita , do Valle Daniel Almeida , dos Santos Bara Tiago , Furlin Vanessa , da Silva Zeny Michelle , Schmitz Ferreira Santos Mara Lúcia , Cordeiro Mara L. 
Published: February 2025

BackgroundNiemann-Pick type C (NPC) disease is a rare neurodegenerative disorder with a wide spectrum of clinical manifestations and genetic variability. This cross-sectional study aimed to comprehensively describe the neuropsychological impact of NPC and investigate its correlation with specific genotypes.ResultsEight patients from six unrelated families were included in this study. Their age at symptom onset ranged between 2 and 16 years, with all patients presenting with ataxia, dysarthria, and cognitive impairment. Following the initiation of miglustat treatment, five patients showed a decrease in the Scale for the Assessment and Rating of Ataxia (SARA) score, whereas three demonstrated subsequent increases. Five patients underwent brain magnetic resonance imaging scans, revealing white matter abnormalities and/or brain volumetric reduction in three cases. Despite the small sample size, the overall cognitive performance of the cohort was significantly below the average. The Family Environment Scale highlighted positive structural patterns, particularly regarding Personal Growth and System Maintenance. Genetic analysis identified five mutations in the NPC1 gene that correlated with the severity of impairments and clinical outcomes.ConclusionThis study indicated a consistent association between cognitive and behavioral impairments, with severity correlating with age and specific genetic variants. Notably, one subgroup showed a higher prevalence of psychotic and behavioral symptoms, suggesting a potential link with specific genetic variants.
Dynamic skeletal muscle loss and its predictive role on 90-day mortality in patients with acute-on-chronic liver failure
Authors: Geng Nan , Kong Ming , Zhang Jiateng , Xu Manman , Chen Huina , Song Wenyan , Chen Yu , Duan Zhongping 
Published: February 2025

BackgroundLow skeletal muscle mass is an independent risk factor for increased mortality in patients with acute-on-chronic liver failure (ACLF). However, no study has evaluated the temporal changes in muscle mass during the course of ACLF. Therefore, this study aimed to investigate the dynamic changes in muscle mass and their prognostic role in patients with ACLF.MethodsA retrospective analysis was conducted on consecutive patients with ACLF who underwent two or more abdominal computed tomography examinations within 90 days of admission. The percentage change rates of the skeletal muscle index at the third lumbar vertebra (L3-SMI) were calculated as (L3-SMIfinal - L3-SMIinitial)/(L3-SMIinitial) × 100%.ResultsA total of 154 patients with ACLF were included. During the course of ACLF, the percentage change rates of L3-SMI at 2–7, 8–14, 15–30, 31–60, and 61–90 days were − 0.83 ± 4.43, −3.76 ± 4.40, −7.30 ± 5.89, −10.10 ± 7.45, and − 5.53 ± 9.26, respectively. Significant reductions in L3-SMI were noted in patients with severe conditions compared to other patients at 2–7 days and 15–30 days. Moreover, the rate of decrease in L3-SMI in patients with a lower respiratory quotient (RQ) was significantly greater than that in patients with a normal RQ at 2–7 days and 15–30 days. Additionally, high muscle loss (HR 2.059; 95% CI 1.122–3.780, p = 0.020), rather than pre-existing sarcopenia (HR 1.430; 95% CI 0.724–2.826, p = 0.303) at baseline, was independently associated with 90-day mortality.ConclusionDeterioration in muscle mass is associated with disease severity and poor nutritional status and serves as a more effective predictor of adverse short-term outcomes in patients with ACLF. These findings underscore the importance of dynamic evaluation of muscle loss and emphasize the necessity of reversing muscle loss in patients with ACLF.
Association between dietary oxidative balance score and constipation: evidence from National Health and Nutrition Examination Survey
Authors: Shi Zhangpeng , Wang Dandan , Yu Jiacheng , Zhou Mengting , Du Jiahao , Qin Huanlong , Zhu Huiyuan 
Published: February 2025

BackgroundNumerous researches have revealed a correlation between dietary factors and the development of constipation. This study aimed to investigate the association between dietary oxidative balance score (DOBS) and constipation.Materials and methodsA cross-sectional study was conducted by us based on the National Health and Nutrition Examination Survey (NHANES) from 2005 to 2010 including 31,034 individuals who completed a constipation questionnaire. The DOBS was calculated based on 16 dietary factors, containing 14 antioxidants and two prooxidants. Multiple logistic regression and restricted cubic spline (RCS) analyses were employed to examine the correlation between DOBS and constipation. Meanwhile, propensity score matching (PSM) was chosen to eliminate the effect of confounding variables.ResultsA total of 11,019 participants were identified as constipation. After adjusting for potential confounding variables, multiple logistic regression analysis indicated that decreasing DOBS (OR = 0.977, 95% CI: 0.966–0.987, p &lt; 0.001) was apparently associated with increased risk of constipation incidence. Notably, the occurrence of constipation increased with reduced level of DOBS, as compared to Q1 (Q2, OR = 0.820, 95% CI, 0.682–0.988, p = 0.037; Q3, OR = 0.797, 95% CI, 0.653–0.973, p = 0.026; Q4, OR = 0.648, 95% CI, 0.528–0.797, p &lt; 0.001).ConclusionLow levels of DOBS were positively associated with the risk of constipation development, demonstrating that DOBS could be employed as a dietary indicator of constipation prevention.
Serum inflammatory factors, vitamin D levels, and asthma severity in children with comorbid asthma and obesity/overweight: a comparative study
Authors: Jiang Wan-yu , Jiao Rong-hong , Ma Su-li , Dai Jin-sheng , Zhu Hai-feng , Wu Meng-ya , Che Yan-ran , Zhang Lei , Ding Xiao-yuan 
Published: February 2025

ObjectiveTo investigate serum inflammatory factors, vitamin D levels, and asthma severity in children with comorbid asthma and obesity/overweight, compared with those with asthma or obesity/overweight alone.MethodsThis retrospective comparative study included children suffering from asthma alone, asthma combined with obesity/overweight, or obesity/overweight alone at Shanghai Pudong New Area People's Hospital between January 2020 and December 2021.ResultsA total of 168 children (mean age: 4.32 ± 1.64 years; 117 males) were included. Compared with children with asthma alone (n = 56), those with comorbid asthma and obesity/overweight (n = 56) exhibited higher levels of serum levels of interleukin 6 (IL-6) (35.75 ± 24.56 vs. 15.40 ± 19.67), TNF-α (15.44 ± 7.35 vs. 12.16 ± 7.24), and leptin (3.89 ± 3.81 vs. 1.27 ± 2.31), and lower levels of 25-hydroxycholecalciferol (25-(OH) D3) (26.03 ± 10.77 vs. 37.15 ± 13.35), IL-10 (8.69 ± 2.76 vs. 15.32 ± 6.28), and IL-13 (449.40 ± 315.37 vs. 605.27 ± 351.02) (all P &lt; 0.05). Compared with children with obese/overweight alone (n = 56), those with comorbid asthma and obesity/overweight had lower IL-10 (8.69 ± 2.76 vs. 12.29 ± 6.61) and higher IL-6 (35.75 ± 24.56 vs. 20.53 ± 17.07), IL-13 (449.40 ± 315.37 vs. 309.47 ± 257.45), and leptin (3.89 ± 3.81 vs. 2.48 ± 3.52) (all P &lt; 0.05). Children with comorbid asthma and obesity/overweight showed higher Preschool Respiratory Assessment Measure (PRAM) scores (3.14 ± 2.40 vs. 1.93 ± 1.02, P = 0.008) and longer hospital stays (5.96 ± 1.25 vs. 5.29 ± 1.36 days, P = 0.007) compared to those with asthma alone.ConclusionsSignificant differences were observed in IL-6, IL-10, IL-13, 25-(OH) D3 levels, and leptin among children with asthma combined with obesity/overweight and those with asthma or obesity/overweight alone. Children with obesity/overweight alone displayed more severe clinical manifestations and longer hospital stays compared with those with asthma alone.
Evaluation of the etiology of epilepsy and/or developmental delay in children via next-generation sequencing: a single-center experience
Authors: Kava Handan , Akgun-Dogan Ozlem , Yesilyurt Ahmet , Alanay Yasemin , Isik Ugur 
Published: February 2025

BackgroundWe aimed to understand the genetic etiology in children presenting with epilepsy and/or developmental delay by using next-generation sequencing (NGS).Materials and methodsWe included children presenting to our pediatric neurology clinic with a diagnosis of epilepsy and/or developmental delay between January 2019 and December 2021. We evaluated the patients using the NGS equipment in our genetic laboratory.ResultsIn total, 90 patients were included in the study. Twenty (34.4%) out of 58 patients who had undergone whole-exome sequencing (WES) had pathogenic or likely pathogenic (P/LP) variants and 11 (18.9%) had variants of unknown significance (VUS). Five (41.6%) out of 12 patients who had undergone whole-genome sequencing had P/LP variants and 5 (41.6%) had VUS. Eleven (55%) out of 20 patients who had undergone WES and chromosomal microarray had P/LP variants and 2 (10%) had VUS. Twenty-six novel variants were described. Twelve patients (13.3%) were diagnosed using a known specific treatment.ConclusionNGS aids in precisely diagnosing children with epilepsy and/or developmental delay. Furthermore, it provides a correct prognosis, specific treatment methods, and a multidisciplinary approach.
A novel method based on lesion expansion to assess plant disease severity
Authors: Qin Feng , Wang Haiguang , Jiang Qian , Wang Hongli 
Published: February 2025

IntroductionSeverity is a key indicator utilized in plant disease monitoring and pathogen-plant interaction phenotyping.MethodsA plant disease severity assessment method based on lesion expansion was proposed in this study to more accurately and quickly assess the severity of plant diseases for which the lesion area ratio of an investigated plant unit at each severity class in the corresponding severity grading standard is not the actual ratio of the lesion area to the area of the whole investigated plant unit. By taking wheat stripe rust caused by Puccinia striiformis f. sp. tritici as an example, after image segmentation operations of single diseased wheat leaves with wheat stripe rust, lesion expansion processing was carried out using nine method combinations of three proposed lesion expansion methods and three proposed lesion expansion coefficient determination methods, and then the severity assessments of single diseased wheat leaves were conducted.ResultsThe results showed that the accuracy of severity assessments of single diseased wheat leaves in each severity class was in the range of 78.00% to 100.00%. No matter which method was used to determine the lesion expansion coefficient/coefficients, the performance of the severity assessments of the single diseased leaves achieved after lesion expansion using lesion expansion method 3 (the lesion expansion method based on an image scaling algorithm) outperformed that achieved after lesion expansion using the other two lesion expansion methods. The performance of the method combination of lesion expansion method 3 and lesion expansion coefficient determination method 1 with a lesion expansion coefficient of 2.74, achieving an accuracy of 96.16% for severity assessments of all the single diseased wheat leaves, was the optimal method among the nine method combinations.DiscussionThe results demonstrated that satisfactory severity assessment results could be achieved using the proposed method based on lesion expansion. The results indicated that the lesion-expansion-based plant disease severity assessment method is feasible, and can be used to solve the severity assessment problem described above. This study provided a new idea and method for accurate severity assessment of plant diseases and provided support for the automatic and intelligent assessment of plant disease severity.
Psychological well-being and its associated factors among university students in Sichuan, China
Authors: Wan Juan , Wee Lei Hum , Siau Ching Sin , Wong Yin How 
Published: February 2025

IntroductionPsychological well-being refers to a mental state that allows an individual to achieve their full potential, be productive and innovative in their work, and manage everyday stressors. This study aims to assess university students’ psychological well-being by examining its associations with demographic factors such as gender, only child status, family background, grade level, financial aid status, and household income.MethodsThis cross-sectional, online study utilized the EPOCH Measure of Adolescent Well-being to examine five positive well-being indicators: Engagement, Perseverance, Optimism, Connectedness and Happiness among Chinese university students aged 18–25 years (N = 4,911).ResultsThe results showed that females, only children, first-year students, and urban students exhibited higher levels of psychological well-being. Additionally, students who received the highest level of financial assistance were significantly associated with lower levels of psychological well-being.ConclusionIdentifying the influence of these socioeconomic factors on psychological well-being allows for targeted interventions to improve the mental health and social well-being of at-risk groups.