International Journal of Medical Sciences最新文献

{"title":"Protective Effects of Kelulut Honey on Bone Strength and Marrow Adiposity in Rats Fed with High-Carbohydrate High-Fat Diet.","authors":"Sophia Ogechi Ekeuku, Khairun-Nisa Hashim, Jen Kit Tan, Michelle Yee Min Fang, Nur Zuliani Ramli, Khairul Anwar Zarkasi, Kok-Yong Chin, Fairus Ahmad","doi":"10.7150/ijms.115978","DOIUrl":"10.7150/ijms.115978","url":null,"abstract":"<p><p><b>Background/Objectives:</b> Metabolic syndrome (MetS) may increase the risk of osteoporosis. This study examines the effects of Kelulut honey, previously shown to prevent MetS, on bone health in male rats fed a high-carbohydrate high-fat (HCHF) diet. <b>Methods:</b> Chemical profiling of the honey was performed using liquid chromatography-tandem mass spectrometry methods. For the <i>in vivo</i> experiment, male Wistar rats were divided into three groups (n=6/group). The normal control group was fed standard chow, while the HCHF groups were given an HCHF diet for 16 weeks. During the final eight weeks, one HCHF group received Kelulut honey (1 g/kg body weight/day). Bone density, biomechanics, histomorphometry, redox markers, and expression of genes relevant to bone cell differentiation were analysed at the end of the study. <b>Results:</b> Chemical profiling of the honey revealed a unique array of bioactive compounds and oligosaccharides. HCHF diet decreased bone displacement and strain, but increased stiffness compared to controls. Bone marrow adipocyte number also increased with HCHF diet. Kelulut honey improved displacement and strain in HCHF-fed rats and reduced bone marrow adipocyte number. <i>Pparg</i> gene expression was significantly lower with HCHF diet. However, no significant differences in bone density, structural and cellular histomorphometric indices, glutathione levels, antioxidant enzyme activities and gene expression of <i>Rankl</i>, <i>Opg</i>, <i>Ocn</i>, <i>Ctsk</i> and <i>Runx2</i> were observed between groups. <b>Conclusion:</b> HCHF diet compromises bone mechanical strength and bone marrow adiposity. Kelulut honey inverses these negative skeletal changes. These findings suggest Kelulut honey's potential protective role against MetS-related bone health issues, warranting further investigation into its mechanisms.</p>","PeriodicalId":14031,"journal":{"name":"International Journal of Medical Sciences","volume":"22 14","pages":"3802-3814"},"PeriodicalIF":3.2,"publicationDate":"2025-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12434834/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145075172","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Proteogenomic Analysis on RNA m6A Modification-Associated Genes Identifies a Distinct Subgroup with High IGF2BPs Expression Across Cancer Types.","authors":"Yebin Ryu, Eunhyong Chang, Hayoon Park, Sung-Yup Cho, Joon-Yong An","doi":"10.7150/ijms.115609","DOIUrl":"10.7150/ijms.115609","url":null,"abstract":"<p><p><b>Background</b>: RNA N6-methyladenosine (m6A) modification is a key epitranscriptomic mechanism that regulates post-transcriptional gene expression. Although m6A-associated regulators have been implicated in cancer, their context-dependent roles and impacts on tumor heterogeneity remain incompletely defined. <b>Methods</b>: We conducted a pan-cancer proteogenomic analysis of m6A-dependent mechanisms using multi-omics datasets from the Clinical Proteomic Tumor Analysis Consortium, utilizing genomic, transcriptomic, proteomic, and phosphoproteomic data. Unsupervised clustering based on expression of m6A regulatory genes identified distinct subgroups. We integrated m6A-seq and RIP-seq data from cancer cell lines and analyzed the immune deconvolution results to define m6A-driven regulatory programs and assess tumor immune infiltration across subgroups. <b>Results</b>: Three molecular subgroups (IGF2BP-H, -M, and-L) were defined based on the expression patterns of m6A readers, with IGF2BP1/2/3 acting as the primary markers distinguishing the subgroups. Their upregulation has been attributed to either copy number amplification or transcription factor activation, depending on the tumor context. The IGF2BP-H subgroup exhibited enhanced cell cycle activity, which was supported by concordant transcriptomic, proteomic, and phosphoproteomic signatures. Mechanistic analyses revealed that IGF2BPs directly bind to and stabilize m6A-modified transcripts, including TOP2A, ANLN, and TFRC, thereby promoting their translation and contributing to cell cycle progression. IGF2BPs also enhanced VEGFA expression in head and neck squamous cell carcinoma and pancreatic ductal adenocarcinoma, potentially promoting immunosuppressive signaling. Immune deconvolution revealed reduced CD8⁺ T cell infiltration in IGF2BP-H tumors, suggesting a less inflamed microenvironment and potentially diminished responsiveness to immunotherapy. <b>Conclusion</b>: Our results highlight the pivotal role of IGF2BP in governing m6A-dependent regulatory mechanisms in cancer cells, highlighting their potential link with aggressive tumor behavior and immune evasion. This study provides important insights into the heterogeneity of m6A-related processes across different malignancies and reveals potential avenues for therapeutic interventions.</p>","PeriodicalId":14031,"journal":{"name":"International Journal of Medical Sciences","volume":"22 15","pages":"3815-3827"},"PeriodicalIF":3.2,"publicationDate":"2025-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12492183/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145232605","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Development and validation of a prediction model for recurrence based on ProMisE molecular classifier and immune-inflammatory- nutritional score in endometrial carcinoma: a retrospective multiple-center study.","authors":"Yunfeng Zheng, Fan Yang, Gaohua Liu, Xixi Wu, Langting Xie, Ran Hu, Xiaoxiao Luo, Rui Yuan","doi":"10.7150/ijms.107134","DOIUrl":"10.7150/ijms.107134","url":null,"abstract":"<p><p><b>Objective</b>: This study aims to develop a robust prediction model using the ProMisE molecular classification and the prognostic immune-inflammatory-nutritional score to predict recurrence in stage I-III endometrial cancer, thereby enabling risk stratification of high-risk patients. <b>Methods</b>: The clinical data of 582 patients (365 in the training cohort and 217 in the validation cohort) were collected from multiple large cancer centers from patients with stage I-III endometrial cancer who underwent surgical resection between August 2019 and February 2022. Cox proportional hazards regression analysis was used to identify the risk factors for recurrence-free survival (RFS). The concordance index (C-index), area under the receiver operating characteristic (ROC) curves, calibration plots, and decision curve analyses (DCA) were used to assess discrimination and clinical utility of the model. <b>Results</b>: Patients with a hemoglobin, albumin, lymphocyte, and platelet (HALP) score ≤ 31.70 tended to have lower BMI (<i>P</i> = 0.017), advanced FIGO stage (<i>P</i> = 0.016), deep myometrial invasion (<i>P</i> < 0.001), and higher serum Ca125 levels (<i>P</i> < 0.001). Multivariate Cox regression analysis showed that age, FIGO stage, grade, LVSI, Ca125, ProMisE molecular subgroup, HALP score, and adjuvant therapy were independent prognostic factors for RFS in patients with endometrial cancer. A nomogram for predicting RFS was established, and patients were stratified into high- and low-risk groups based on the RFS model. <b>Conclusions</b>: The preoperative HALP score serves as a reliable predictor of RFS in endometrial cancer. A nomogram combining the HALP score, ProMisE molecular subtyping, and clinical parameters can assist clinicians in identifying high-risk patients for recurrence. These patients may benefit from early triage and more intensive monitoring.</p>","PeriodicalId":14031,"journal":{"name":"International Journal of Medical Sciences","volume":"22 14","pages":"3789-3801"},"PeriodicalIF":3.2,"publicationDate":"2025-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12434823/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145074930","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"FAM174B remodels the tumor microenvironment, inhibits the infiltration of macrophage, predicts the molecular subtype and therapeutic response of bladder cancer.","authors":"Hualin Chen, Lin Ma, Zhigang Ji, Jie Dong","doi":"10.7150/ijms.110096","DOIUrl":"10.7150/ijms.110096","url":null,"abstract":"<p><p><b>Background</b>: While the immunomodulatory function of FAM174B in bladder cancer (BLCA) has yet to be fully elucidated, elucidating its biological mechanisms could potentially enhance immunotherapeutic outcomes for this malignancy. <b>Methods</b>: Bulk RNA-seq data from TCGA and GEO databases were analyzed to investigate FAM174B expression patterns and immune landscape characteristics in pan-cancer. The immunoregulatory role of FAM174B in BLCA was systematically evaluated through immune infiltration analysis, immunomodulator profiling, cancer-immunity cycle assessment, and immune checkpoint examination. Validation was performed using the IMvigor210 immunotherapy cohort and a combined GEO dataset (n=871). A machine learning-based immune-related signature was developed for prognostic and therapeutic response prediction. <b>Results</b>: FAM174B was highly expressed in cancer tissues across multiple human cancer types including BLCA. Specifically, FAM174B negatively correlated with various immunological features including immunoregulators and immune cell infiltration abundances, suggesting that FAM174B remodeled the microenvironment to a non-inflamed phenotype of BLCA. Besides, patients with high-FAM174B expression may process limited sensitivity to immunotherapy and increased likelihood of hyperprogression. Consensus molecular classification analysis indicated that elevated FAM174B is related to a luminal BLCA subtype which was characterized by reduced immune infiltration, inhibited immuno- and chemo-therapeutic responses, yet increased response to angiogenesis inhibitors and targeted therapy. Furthermore, the immune-related signature, formulated through a machine learning-integrated approach, is shown to be a dependable indicator for predicting cancer prognosis and the efficacy of immunotherapy responses for BLCA. <b>Conclusion</b>: Given the pivotal role of FAM174B in shaping the non-inflamed tumor microenvironment of BLCA, therapeutic targeting of FAM174B may represent a promising strategy for BLCA management. Furthermore, FAM174B expression could serve as a potential biomarker for predicting molecular subtypes and treatment responsiveness in BLCA patients.</p>","PeriodicalId":14031,"journal":{"name":"International Journal of Medical Sciences","volume":"22 14","pages":"3737-3748"},"PeriodicalIF":3.2,"publicationDate":"2025-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12434816/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145074897","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Dual-Function RNA Biomarkers: Integrating Relapse Prediction and Immune Profiling in Triple-Negative Breast Cancer.","authors":"Ying Wen, Yuanyuan Tang, Qiongyan Zou","doi":"10.7150/ijms.119142","DOIUrl":"10.7150/ijms.119142","url":null,"abstract":"<p><p>Triple-negative breast cancer (TNBC) is an aggressive breast cancer subtype with a high risk of recurrence and poor clinical outcomes. However, the factors contributing to its relapse remain inadequately understood. In this study, we utilized transcriptomic data from The Cancer Genome Atlas (TCGA) to identify lncRNA pairs associated with both recurrence and immune response. A risk prediction model was constructed through the integration of LASSO regression, Cox proportional hazards analysis, and random forest algorithms. To validate its predictive capability, we employed an external validation cohort along with a backpropagation neural network (BPNN) to assess the model's performance. Our findings indicate that the proposed risk model correlates strongly with multiple clinical features, including immune cell infiltration, response to immunotherapy, tumor mutational burden (TMB), and chemotherapy sensitivity. Additionally, a nomogram integrating risk scores with clinical parameters demonstrated superior predictive accuracy compared to models based solely on risk scores. Experimental validation confirmed that silencing LINC01605 significantly impaired TNBC cell proliferation, migration, and invasion. Overall, this risk model provides a novel approach for predicting tumor recurrence and prognosis in TNBC patients. The study also highlights the potential of LINC01605 as a therapeutic target, offering new perspectives for personalized treatment strategies.</p>","PeriodicalId":14031,"journal":{"name":"International Journal of Medical Sciences","volume":"22 14","pages":"3763-3778"},"PeriodicalIF":3.2,"publicationDate":"2025-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12434821/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145074958","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Machine Learning-Based Hypoxia-Related Gene Signatures to Facilitate Prediction of Cetuximab Response in Patients with Colorectal Cancer.","authors":"Cuizhen Zhang, Wanjie Niu, Jiangtao Zhang, Yingyi Zheng, Zhiru Chen, Fali Zhang, Xiaoyan Qiu","doi":"10.7150/ijms.114833","DOIUrl":"10.7150/ijms.114833","url":null,"abstract":"<p><p><b>Background</b> There is significant individual variation in the efficacy of cetuximab for the treatment of colorectal cancer (CRC). However, effective models to predict treatment outcomes are still lacking in clinical practice. <b>Methods</b> Datasets (GSE106582 and GSE83889) were used to identify differentially expressed genes (DEGs) in CRC by the 'Limma' package in R software. Hypoxia-related genes were retrieved from the Molecular Signatures Database and cross-referenced with CRC DEGs. Protein expression levels were verified using immunohistochemistry (IHC) data from the Human Protein Atlas (HPA), and prognostic significance was assessed through the Kaplan-Meier plotter platform. Additionally, pathway and immune infiltration analyses were performed using the GSCA platform. We also successfully constructed a prediction model for cetuximab treatment response using the K-nearest neighbors (KNN) algorithm in GSE108277 dataset, in which the feature selection was performed through the permutation importance method. <b>Results</b> Analysis of GSE106582 and GSE83889 identified 417 overlapping DEGs by comparing cancer tissues with normal controls, including 16 hypoxia-related genes. 6 genes (<i>BGN</i>, <i>DDIT4</i>, <i>MIF</i>, <i>SLC2A1</i>, <i>STC2</i>, and <i>TGFBI</i>) were upregulated, and 10 genes (<i>CA12</i>, <i>CITED2</i>, <i>MT1E</i>, <i>MT2A</i>, <i>NEDD4L</i>, <i>PCK1</i>, <i>PLAC8</i>, <i>PPARGC1A</i>, <i>SELENBP1</i>, and <i>SRPX</i>) were downregulated in CRC. Survival analysis revealed that the 16 hypoxia-related DEGs were linked to the survival outcomes of CRC patients. Pathway analysis indicated that these genes were almost involved in EMT, cell cycle, and RTK pathways. Furthermore, these genes play a role in the infiltration of immune cells and may regulate the immune microenvironment. A prediction model for cetuximab response was developed, based on 10 key genes (<i>CA12</i>, <i>DDIT4</i>, <i>MIF</i>, <i>MT2A</i>, <i>NEDD4L</i>, <i>PLAC8</i>, <i>SELENBP1</i>, <i>SLC2A1</i>, <i>SRPX</i>, and <i>TGFBI</i>) and dataset from GSE108277. The model demonstrated robust performance with an accuracy of 0.9500, precision of 0.8378, recall of 1.0000, F1-score of 0.9118, and a receiver operating characteristic-area under the curve (ROC-AUC) of 0.9663. <b>Conclusion</b> Our study identifies 10 hypoxia-related DEGs as key players in CRC progression and cetuximab response. And we successfully developed a predictive model to forecast the response of CRC patients to cetuximab treatment. This study will provide valuable biomarkers for CRC prognosis and help guide more effective therapeutic strategies.</p>","PeriodicalId":14031,"journal":{"name":"International Journal of Medical Sciences","volume":"22 14","pages":"3749-3762"},"PeriodicalIF":3.2,"publicationDate":"2025-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12434828/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145075317","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The probiotic <i>Lactobacillus kefiranofaciens</i> K6 alleviates exercise and sleep deprivation-induced physiological dysregulation and neuropsychiatric disorders via modulation of inflammation, circadian rhythm, and stress response.","authors":"Chien-Wei Chen, Li-Ting Wu, Po-Hao Chiu, Yen-Po Chen, Wen-Ching Huang","doi":"10.7150/ijms.115387","DOIUrl":"10.7150/ijms.115387","url":null,"abstract":"<p><p>Individuals often suffer from insufficient or disrupted sleep due to night shifts, work pressure, and irregular lifestyles. Sleep deprivation (SD), defined as an intentional or unintentional reduction in sleep quality or quantity, has been associated with an increased risk of metabolic disorders, gut dysbiosis, emotional disturbances, and diminished performance in occupational and physical activities. Functional probiotics have been shown to regulate physiological homeostasis and ameliorate diseases through their impact on the microbiota and various physiological pathways. In this study, we employed the modified multiple platform method (MMPM) to induce SD in an animal model, simulating physiological dysregulation and psychological characteristics associated with SD. We further investigated whether exercise and the probiotic <i>Lactobacillus kefiranofaciens</i> K6 could mitigate the effects of SD on physiological homeostasis, neuropsychological function, inflammation, circadian rhythm, and exercise capacity. We found that the probiotic K6 significantly alleviated depression and anxiety while improving glucose intolerance and declining endurance capacity in the SD model. Elevated injury indexes (CK and LDH) induced by SD combined with exercise training were also significantly reduced under K6 supplementation. In the liver and muscle, SD alone or combined with exercise led to inflammation (<i>TNF-α</i>) and dysregulated circadian gene expression (<i>BMAL-1</i>, <i>CLOCK</i>), both of which were mitigated by K6 supplementation. In the intestine, hypothalamus, and hippocampus, SD or SD combined with exercise-induced inflammation (<i>TNF-α</i>, <i>IL-1β</i>) and tight junction hyperpermeability (<i>Claudin-1, ZO-1</i>) were alleviated with K6 supplementation, as were the circadian genes (<i>BMAL-1</i>, <i>CLOCK</i>) and corticotropin-releasing hormone receptor genes (<i>CRF1</i>, <i>CRF2</i>) in hypothalamus and hippocampus under SD alone or combined with exercise. The functional probiotic K6 improved physiological adaption, neuropsychological behaviors, and exercise performance with the implementation of SD and exercise training, potentially through regulation of inflammation, circadian rhythm, and stress response, contributing to overall health maintenance. The K6 probiotic strain may serve as a nutritional strategy to mitigate health risks and enhance performance affected by sleep deprivation.</p>","PeriodicalId":14031,"journal":{"name":"International Journal of Medical Sciences","volume":"22 14","pages":"3722-3736"},"PeriodicalIF":3.2,"publicationDate":"2025-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12434813/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145075098","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Nomogram for Predicting Postoperative Blood Pressure Reduction in Hypertensive Patients: A Single-Center Retrospective Study.","authors":"Zongsu Zhang, Xiaocheng Ma, Zhaochen Li, Haotian Wei, Kaipeng Jia, Chenglong Xu, Shimiao Zhu, Simeng Wen, Changyi Quan","doi":"10.7150/ijms.112777","DOIUrl":"10.7150/ijms.112777","url":null,"abstract":"<p><p><b>Background:</b> Hypertension is a major public health problem. In clinical practice, we have observed that when hypertensive patients undergo robotic-assisted partial nephrectomy (RAPN), approximately half of them experience a normalization of their blood pressure (BP) shortly after the surgery. This study aims to investigate the effect of RAPN on BP in hypertensive patients with renal tumor by disassociating nerve tissue around the renal artery. <b>Methods:</b> We reviewed patients with renal tumor requiring RAPN who were admitted to our department from January 2021 to January 2024, with a minimum follow-up of 3 months. A total of 260 hypertensive patients combined with renal tumor were followed up. Univariate and multivariate logistic regression analyses were sequentially employed to determine the factors associated with blood pressure normalization following RAPN. Finally, a nomogram model based on independent risk factors was established and validated. <b>Results:</b> A total of 55.38% (144/260) hypertensive patients combined with renal tumor have achieved blood pressure normalization following RAPN. A multivariate logistic regression analysis showed that preoperative BP (OR=0.145; 95%CI:0.052-0.421; p<0.001), circulatory diseases(OR=15.661; 95%CI:8.611-30.576; p<0.001), plasma renin activity ratio(PRA) (OR=0.071; 95%CI:0.035-0.131; p<0.001), preoperative angiotensin II (AT II) (OR=0.693; 95%CI:0.551-0.861; p=0.002), Body Mass Index (BMI) (OR=0.526; 95%CI:0.355-0.713; p=0.031) were independently correlated with blood pressure normalization. We constructed a nomogram prediction model based on these independent risk factors. Validation through receiver operating characteristic curve, calibration curves, and decision curve analysis demonstrated a strong correlation between predicted and actual occurrence probabilities. <b>Conclusion:</b> This procedure blocks the renin-angiotensin-aldosterone system by disassociating nerve tissue around the renal artery in hypertensive patients, thereby reducing their BP. This surgical method may become a potential new treatment for hypertension in the future.</p>","PeriodicalId":14031,"journal":{"name":"International Journal of Medical Sciences","volume":"22 14","pages":"3581-3590"},"PeriodicalIF":3.2,"publicationDate":"2025-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12434825/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145075099","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Causal Effects of Exposure to Air Pollution on the Risk of Neurosurgical Multi-system Diseases: A Worldwide Study of Mendelian Randomization.","authors":"Lirui Dai, Shu Jiang, Peizhi Zhou","doi":"10.7150/ijms.115853","DOIUrl":"10.7150/ijms.115853","url":null,"abstract":"<p><p><b>Background:</b> Epidemiological studies has investigated the correlation between ambient air pollution and neurosurgical multisystem diseases. Multiple studies have shown that air pollution significantly influences various neurological disorders. Nevertheless, the findings from these studies are inconsistent and contentious, leaving the causal relationships for many conditions unresolved. The study systematically investigates the underlying genetic causal relationships between air pollution and neurosurgical multisystem diseases, as well as to assess the implications of these associations. <b>Methods:</b> Genetic instruments for particulate matter (PM) with aerodynamic diameter < 2.5 μm (PM_2.5), < 2.5-10 μm (PM_2.5-10), <10 μm (PM₁₀), PM_2.5 absorbance, nitrogen dioxide (NO₂), nitrogen oxides (NOx) and 30 neurosurgical multi-system diseases were selected. <b>Results:</b> In the European population, a noteworthy causal association was identified between NO₂ and PM_2.5 exposure and cerebral infarction (IVW: OR = 1.03, 95%CI: 1.01~1.06). Among African American or Afro-Caribbean individuals, NOx (IVW: OR = 0.63, 95%CI: 0.44~0.90) and NO₂ (IVW: OR = 0.68, 95%CI: 0.54-0.87) are predisposed to trigger trigeminal neuralgia, while PM_2.5 is related to 3 neurosurgical diseases, including epilepsy (IVW: OR = 0.89, 95%CI: 0.79~1.00), subarachnoid hemorrhage (IVW: OR = 0.75, 95%CI: 0.61~0.91), and diffuse brain injury (IVW: OR = 0.67, 95%CI: 0.47~0.96). In East Asian populations, a correlation has been observed between PM_2.5 (IVW: OR = 0.99, 95%CI: 0.98~1.00) and PM₁₀ (IVW: OR = 1.00, 95%CI: 1.00~1.00) exposure and the occurrence of cervical spondylosis. Additionally, there is a genetic susceptibility to pituitary adenoma and craniopharyngioma related to NO₂ (IVW: OR = 1.24, 95%CI: 1.02~1.52) and PM_2.5 absorbance (IVW: OR = 0.73, 95%CI: 0.59~0.90). In South Asian populations, there is a significant genetic susceptibility to the influences of PM_2.5-10 (IVW: OR = 0.90, 95%CI: 0.83~0.97) on stroke incidence. In contrast, for populations in the Greater Middle East, air pollution is predominantly associated with cerebrovascular diseases. For example, PM_2.5-10 shows a positive genetic predisposition towards stroke (IVW: OR = 1.02, 95%CI: 1.00~1.05) and subarachnoid hemorrhage (IVW: OR = 1.06, 95%CI: 1.00~1.12). <b>Conclusion:</b> This study presents the first genetic evidence establishing a connection between air pollution and neurosurgical multisystem diseases. Our findings emphasize the importance of air quality in the context of these diseases, potentially offering new insights into the underlying mechanisms and informing future clinical research on air pollution-mediated neurosurgical conditions, particularly cerebrovascular and brain functional disorders.</p>","PeriodicalId":14031,"journal":{"name":"International Journal of Medical Sciences","volume":"22 14","pages":"3565-3580"},"PeriodicalIF":3.2,"publicationDate":"2025-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12434832/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145075312","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Establishment of a Stacking Machine Learning Model Predicting Cardiac Phenotype in Ectopia Lentis Patients Based on Genotype and Ocular Phenotype.","authors":"Linghao Song, Ao Miao, Xinyue Wang, Yan Liu, Xin Shen, Zexu Chen, Wannan Jia, Yalei Wang, Xinyao Chen, Tianhui Chen, Yongxiang Jiang","doi":"10.7150/ijms.109657","DOIUrl":"10.7150/ijms.109657","url":null,"abstract":"<p><p><b>Purpose:</b> To establish a stacking machine learning model for cardiac phenotype prediction in ectopia lentis (EL) patients on the basis of their genotype and ocular phenotype. <b>Methods:</b> We enrolled 151 patients with congenital EL and divided them into three groups according to their echocardiograph (normal group, reflux group, and organic lesion group). All the subjects underwent genetic screening and an up-to-1-year ophthalmic and cardiac follow-up. Patients were randomly divided into training set and validation set in a 3:1 ratio. Six statistically significant parameters based on one-way ANOVA and regression analysis were fed into nine basic algorithms for diagnostic training. <b>Results:</b> Among the three groups, intergroup differences in axial length and central corneal thickness were identified. In genotypes, patients with cysteine-eliminating dominant negative and homozygous deficiency mutations were predisposed to cardiac abnormalities. In addition, the corneal radius of curvature and the mutation domain were also included in the experimental dataset. In the validation set, the diagnostic model achieved a comprehensive accuracy of 75% for predicting cardiac phenotype. <b>Conclusion:</b> We established a reliable machine-learning model which predicts cardiac phenotype using genotype and ocular phenotype in EL patients. This model possibly facilitates effective diagnosis of Marfan syndrome.</p>","PeriodicalId":14031,"journal":{"name":"International Journal of Medical Sciences","volume":"22 14","pages":"3501-3510"},"PeriodicalIF":3.2,"publicationDate":"2025-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12434693/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145074916","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}