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1.
Article in English | MEDLINE | ID: mdl-38804038

ABSTRACT

Venous malformations are the most common congenital vascular malformations, and the incidence rate is high. Previous studies have confirmed that a variety of polymorphisms within the miRNA functional region are associated with tumor susceptibility. We examined the correlation between miR-618 rs2682818 C>A and risk of developing venous malformation in a southern Chinese population (1113 patients and 1158 controls). TaqMan genotyping of miR-618 rs2682818 C>A was conducted utilizing real-time fluorescent quantitative PCR. The miR-618 rs2682818 polymorphism was not correlated with susceptibility to venous malformation (CA/AA vs. CC: adjusted odds ratio [AOR] = 1.00, 95% confidence interval [CI] = 0.81-1.25, p = 0.994; AA vs. CC/CA: AOR = 1.10, 95% CI = 0.73-1.65, p = 0.646). Stratified analysis of different subtypes of venous malformation revealed that there was no significant difference in the rs2682818 C>A polymorphism genotypes across these subtypes. Our results indicate that miR-618 rs2682818 C>A polymorphism is not correlated with the susceptibility to venous malformation.

2.
Math Biosci Eng ; 21(2): 2407-2431, 2024 Jan 16.
Article in English | MEDLINE | ID: mdl-38454689

ABSTRACT

BACKGROUND: Aggrephagy is a lysosome-dependent process that degrades misfolded protein condensates to maintain cancer cell homeostasis. Despite its importance in cellular protein quality control, the role of aggrephagy in glioma remains poorly understood. OBJECTIVE: To investigate the expression of aggrephagy-related genes (ARGs) in glioma and in different cell types of gliomas and to develop an ARGs-based prognostic signature to predict the prognosis, tumor microenvironment, and immunotherapy response of gliomas. METHODS: ARGs were identified by searching the Reactome database. We developed the ARGs-based prognostic signature (ARPS) using data from the Cancer Genome Atlas (TCGA, n = 669) by Lasso-Cox regression. We validated the robustness of the signature in clinical subgroups and CGGA cohorts (n = 970). Gene set enrichment analysis (GSEA) was used to identify the pathways enriched in ARPS subgroups. The correlations between ARGs and macrophages were also investigated at single cell level. RESULTS: A total of 44 ARGs showed heterogeneous expression among different cell types of gliomas. Five ARGs (HSF1, DYNC1H1, DYNLL2, TUBB6, TUBA1C) were identified to develop ARPS, an independent prognostic factor. GSEA showed gene sets of patients with high-ARPS were mostly enriched in cell cycle, DNA replication, and immune-related pathways. High-ARPS subgroup had higher immune cell infiltration states, particularly macrophages, Treg cells, and neutrophils. APRS had positive association with tumor mutation burden (TMB) and immunotherapy response predictors. At the single cell level, we found ARGs correlated with macrophage development and identified ARGs-mediated macrophage subtypes with distinct communication characteristics with tumor cells. VIM+ macrophages were identified as pro-inflammatory and had higher interactions with malignant cells. CONCLUSION: We identified a novel signature based on ARGs for predicting glioma prognosis, tumor microenvironment, and immunotherapy response. We highlight the ARGs-mediated macrophages in glioma exhibit classical features.


Subject(s)
Glioma , Tumor-Associated Macrophages , Humans , Macroautophagy , Base Sequence , Glioma/genetics , Sequence Analysis, RNA , Tumor Microenvironment
3.
Int J Gen Med ; 17: 509-515, 2024.
Article in English | MEDLINE | ID: mdl-38356685

ABSTRACT

Background: Venous malformation is related to genes and results in functional and morphologic anomalies. Genetic variations affecting the development of vessel endothelial cells are unclear. Therefore, this study aimed to investigate the potential value of the miR-100 rs1834306 A>G polymorphism as a marker of susceptibility to venous malformation. Methods: In this case-control study in southern Chinese children, we collected blood samples from 1158 controls and 1113 patients with venous malformation. TaqMan genotyping of miR-100 rs1834306 A>G was performed by real-time fluorescent quantitative polymerase chain reaction. Results: Multivariate logistic regression analysis showed that there was no significant association between the presence of the miR-100 rs1834306 A>G polymorphism and susceptibility to venous malformation by evaluating the values of pooled odds ratios and 95% confidence intervals. Similarly, among different sites, rs1834306 A>G was also not associated with venous malformation. Conclusion: Our results suggest that the miR-100 rs1834306 A>G polymorphism is not associated with susceptibility to venous malformation in southern Chinese children. These results need to be further confirmed by investigating a more diverse ethnic population of patients with venous malformations.

4.
BMC Cardiovasc Disord ; 21(1): 11, 2021 01 06.
Article in English | MEDLINE | ID: mdl-33407152

ABSTRACT

BACKGROUND: We aimed to use the Medical Information Mart for Intensive Care III database to build a nomogram to identify 30-day mortality risk of deep vein thrombosis (DVT) patients in intensive care unit (ICU). METHODS: Stepwise logistic regression and logistic regression with least absolute shrinkage and selection operator (LASSO) were used to fit two prediction models. Bootstrap method was used to perform internal validation. RESULTS: We obtained baseline data of 535 DVT patients, 91 (17%) of whom died within 30 days. The discriminations of two new models were better than traditional scores. Compared with simplified acute physiology score II (SAPSII), the predictive abilities of two new models were improved (Net reclassification improvement [NRI] > 0; Integrated discrimination improvement [IDI] > 0; P < 0.05). The Brier scores of two new models in training set were 0.091 and 0.108. After internal validation, corrected area under the curves for two models were 0.850 and 0.830, while corrected Brier scores were 0.108 and 0.114. The more concise model was chosen to make the nomogram. CONCLUSIONS: The nomogram developed by logistic regression with LASSO model can provide an accurate prognosis for DVT patients in ICU.


Subject(s)
Decision Support Techniques , Hospital Mortality , Intensive Care Units , Nomograms , Venous Thrombosis/diagnosis , Venous Thrombosis/mortality , Aged , Aged, 80 and over , Databases, Factual , Female , Health Status , Humans , Male , Middle Aged , Predictive Value of Tests , Prognosis , Risk Assessment , Risk Factors , Time Factors , Venous Thrombosis/therapy
5.
Perfusion ; 35(8): 806-813, 2020 11.
Article in English | MEDLINE | ID: mdl-32419612

ABSTRACT

BACKGROUND: Catheter-related thrombosis may lead to catheter infections and failure, further deep venous thrombosis, and pulmonary embolism. Recognizing the risk factors for catheter-related thrombosis is extremely important to inform the development of catheter care guidelines. METHODS: Data were collected from a total of 1,532 patients who had undergone venous catheterization, including indwelling catheterization from 19 March 2019 to 30 March 2019 in the Sun Yat-sen Memorial Hospital. The factors for which data were to be collected included the patients' physical characteristics, catheter-related factors, and catheter care-related factors. Logistic regression analysis, the chi-squared test, Fisher's exact test, and the t-test were used to analyze the data. RESULTS: Of the 1,532 patients studied, 28 developed intraductal thrombi, and of the factors analyzed, malignancy, a catheterization history, a history of thrombophilia, surgery during the week before catheterization, the catheterization duration, and anticoagulant therapy were significant risk factors associated with catheter-related thrombosis (all p < 0.05). There were no significant associations between the catheter brand, the number of lumens, the insertion direction, or the factors associated with catheter care and catheter-related thrombosis (all p > 0.05). CONCLUSION: Our study incorporated clear and systematic risk factors associated with catheter-related thrombosis. Malignancy, history of thrombophilia, history of catheterization, surgery during the week before catheterization, and catheterization duration were associated with increased risks of catheter-related thrombosis. Prophylactic anticoagulation was effective for preventing and treating catheter-related thrombosis.


Subject(s)
Catheterization, Central Venous/adverse effects , Thrombosis/etiology , Adolescent , Adult , Aged , Aged, 80 and over , Catheterization, Central Venous/methods , Child , Child, Preschool , Female , Humans , Male , Middle Aged , Retrospective Studies , Risk Factors , Young Adult
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