1.Identification of telomere-related diagnostic markers in osteoarthritis based on bioinformatics analysis and machine learning
Sheng XU ; Jia YE ; Xiaochong CAI
The Korean Journal of Physiology and Pharmacology 2025;29(3):359-372
Osteoarthritis (OA) is one of the most prevalent joint disorders, with aging considered a primary, irreversible factor contributing to its progression. Telomere-related cellular senescence may be a crucial factor influencing the OA process, yet biomarkers for OA based on telomere-related genes have not been clearly identified. The datasets GSE51588, GSE12021, and GSE55457 were retrieved from the Gene Expression Omnibus database. Initially, R software was utilized to identify differentially expressed genes between OA and normal samples. Subsequently, differentially expressed telomere-related genes (DETMRGs) were obtained, and their functional enrichment was analyzed. Feature genes for OA diagnosis were selected from DETMRGs using a combination of least absolute shrinkage and selection operator, support vector machine-recursive feature elimination, and Random Forest algorithms. The diagnostic value of these feature genes was then validated through receiver operating characteristic (ROC) curves and decision curve analysis. Additionally, CIBERSORT and xCell were employed to assess the infiltration of immune cells in OA tissues.Finally, potential drugs targeting candidate genes were predicted. Three telomererelated genes, PGD, SLC7A5, and TKT, have been identified as biomarkers for OA diagnosis and were confirmed through ROC diagnostic tests. The immune infiltration of mast cells, neutrophils, common lymphoid precursors, and eosinophils associated with PGD, SLC7A5, and TKT was reduced. Recognizing telomere-related genes PGD, SLC7A5, and TKT as potential diagnostic biomarkers for OA is significant, as it offers valuable insights into the role of telomere-related genes in OA. This discovery also provides valuable information for the diagnosis and treatment of OA.
2.Long-term Outcomes of Endoscopic Radiofrequency Ablation versus Endoscopic Submucosal Dissection for Widespread Superficial Esophageal Squamous Cell Neoplasia
Xin TANG ; Qian-Qian MENG ; Ye GAO ; Chu-Ting YU ; Yan-Rong ZHANG ; Yan BIAN ; Jin-Fang XU ; Lei XIN ; Wei WANG ; Han LIN ; Luo-Wei WANG
Gut and Liver 2025;19(2):198-206
Background/Aims:
Endoscopic radiofrequency ablation (ERFA) is a treatment option for superficial esophageal squamous cell neoplasia (ESCN), with a relatively low risk of stenosis; however, the long-term outcomes remain unclear. We aimed to compare the long-term outcomes of patients with widespread superficial ESCN who underwent endoscopic submucosal dissection (ESD) or ERFA.
Methods:
We retrospectively analyzed the clinical data of patients with superficial ESCN who underwent ESD or ERFA between January 2015 and December 2021. The primary outcome measure was recurrence-free survival.
Results:
Ninety-two and 33 patients with superficial ESCN underwent ESD and ERFA, respectively. The en bloc, R0, and curative resection rates for ESD were 100.0%, 90.2%, and 76.1%, respectively. At 12 months, the complete response rate was comparable between the two groups (94.6% vs 90.9%, p=0.748). During a median follow-up of 66 months, recurrence-free survival was significantly longer in the ESD group than in the ERFA group (p=0.004), while no significant differences in overall survival (p=0.845) and disease-specific survival (p=0.494) were observed.Preoperative diagnosis of intramucosal cancer (adjusted hazard ratio, 5.55; vs high-grade intraepithelial neoplasia) was an independent predictor of recurrence. Significantly fewer patients in the ERFA group experienced stenosis compare to ESD group (15.2% vs 38.0%, p=0.016).
Conclusions
The risk of recurrence was higher for ERFA than ESD for ESCN but overall survival was not affected. The risk of esophageal stenosis was significantly lower for patients who underwent ERFA.
3.Impact of Donor Age on Liver Transplant Outcomes in Patients with Acute-on-Chronic Liver Failure: A Cohort Study
Jie ZHOU ; Danni YE ; Shenli REN ; Jiawei DING ; Tao ZHANG ; Siyao ZHANG ; Zheng CHEN ; Fangshen XU ; Yu ZHANG ; Huilin ZHENG ; Zhenhua HU
Gut and Liver 2025;19(3):398-409
Background/Aims:
Liver transplantation is the most effective treatment for the sickest patients with acute-on-chronic liver failure (ACLF). However, the influence of donor age on liver transplantation, especially in ACLF patients, is still unclear.
Methods:
In this study, we used the data of the Scientific Registry of Transplant Recipients. We included patients with ACLF who received liver transplantation from January 1, 2007, to December 31, 2017, and the total number was 13,857. We allocated the ACLF recipients by age intogroup I (donor age ≤17 years, n=647); group II (donor age 18–59 years, n=11,423); and group III (donor age ≥60 years, n=1,787). Overall survival (OS), graft survival, and mortality were com-pared among the three age groups and the four ACLF grades. Cox regression was also analyzed.
Results:
The 1-, 3-, and 5-year OS rates were 89.6%, 85.5%, and 82.0% in group I; 89.4%, 83.4%, and 78.2% in group II; and 86.8%, 78.4%, and 71.4% in group III, respectively (p<0.001).When we analyzed the different effects of donor age on OS with different ACLF grades, in groupsII and III, we observed statistical differences. Finally, the cubic spline curve told us that the relative death rate changed linearly with increasing donor age.
Conclusions
Donor age is related to OS and graft survival of ACLF patients after transplanta-tion, and poorer results were associated with elderly donors. In addition, different donor ages have different effects on recipients with different ACLF grades.
4.Integrated molecular characterization of sarcomatoid hepatocellular carcinoma
Rong-Qi SUN ; Yu-Hang YE ; Ye XU ; Bo WANG ; Si-Yuan PAN ; Ning LI ; Long CHEN ; Jing-Yue PAN ; Zhi-Qiang HU ; Jia FAN ; Zheng-Jun ZHOU ; Jian ZHOU ; Cheng-Li SONG ; Shao-Lai ZHOU
Clinical and Molecular Hepatology 2025;31(2):426-444
Background:
s/Aims: Sarcomatoid hepatocellular carcinoma (HCC) is a rare histological subtype of HCC characterized by extremely poor prognosis; however, its molecular characterization has not been elucidated.
Methods:
In this study, we conducted an integrated multiomics study of whole-exome sequencing, RNA-seq, spatial transcriptome, and immunohistochemical analyses of 28 paired sarcomatoid tumor components and conventional HCC components from 10 patients with sarcomatoid HCC, in order to identify frequently altered genes, infer the tumor subclonal architectures, track the genomic evolution, and delineate the transcriptional characteristics of sarcomatoid HCCs.
Results:
Our results showed that the sarcomatoid HCCs had poor prognosis. The sarcomatoid tumor components and the conventional HCC components were derived from common ancestors, mostly accessing similar mutational processes. Clonal phylogenies demonstrated branched tumor evolution during sarcomatoid HCC development and progression. TP53 mutation commonly occurred at tumor initiation, whereas ARID2 mutation often occurred later. Transcriptome analyses revealed the epithelial–mesenchymal transition (EMT) and hypoxic phenotype in sarcomatoid tumor components, which were confirmed by immunohistochemical staining. Moreover, we identified ARID2 mutations in 70% (7/10) of patients with sarcomatoid HCC but only 1–5% of patients with non-sarcomatoid HCC. Biofunctional investigations revealed that inactivating mutation of ARID2 contributes to HCC growth and metastasis and induces EMT in a hypoxic microenvironment.
Conclusions
We offer a comprehensive description of the molecular basis for sarcomatoid HCC, and identify genomic alteration (ARID2 mutation) together with the tumor microenvironment (hypoxic microenvironment), that may contribute to the formation of the sarcomatoid tumor component through EMT, leading to sarcomatoid HCC development and progression.
5.The efficacy of skin soft tissue expansion and recombinant human epidermal growth factor in the repair of second-degree scald scars: a prospective single-blind randomized controlled trial
Hui HE ; Miaomiao XU ; Wenlu ZHANG ; Jia YE
Annals of Surgical Treatment and Research 2025;108(5):325-330
Purpose:
This research observed the efficacy and safety of soft tissue expansion combined with recombinant human epidermal growth factor (rhEGF) in repairing second-degree scald scars.
Methods:
This study conducted a prospective, single-blind, randomized controlled trial. Eighty-four patients with deep second-degree scald scars were evenly divided into the control and observation groups. The control group was treated with soft tissue expansion, and the observation group was additionally treated with rhEGF. The skin expansion and wound healing times were compared. The changes in wound exudate and inflammation around the wound were observed after first-stage surgery. The hydroxyproline (OHP) and collagen I/III ratios were compared during the second stage of surgery.The complications and repair effects during treatment were evaluated.
Results:
The observation group exhibited lower expansion time, immediate retraction rate, and wound healing time, higher skin expansion rate, higher wound exudate score and inflammation score, higher OHP, lower collagen I/III, lower complication rate, and higher total effective rate than the control group (all P < 0.05).
Conclusion
Skin soft tissue expansion combined with rhEGF is more effective in repairing second-degree scald scars, which can effectively increase skin expansion area and reduce wound infection and complications.
6.Identification of telomere-related diagnostic markers in osteoarthritis based on bioinformatics analysis and machine learning
Sheng XU ; Jia YE ; Xiaochong CAI
The Korean Journal of Physiology and Pharmacology 2025;29(3):359-372
Osteoarthritis (OA) is one of the most prevalent joint disorders, with aging considered a primary, irreversible factor contributing to its progression. Telomere-related cellular senescence may be a crucial factor influencing the OA process, yet biomarkers for OA based on telomere-related genes have not been clearly identified. The datasets GSE51588, GSE12021, and GSE55457 were retrieved from the Gene Expression Omnibus database. Initially, R software was utilized to identify differentially expressed genes between OA and normal samples. Subsequently, differentially expressed telomere-related genes (DETMRGs) were obtained, and their functional enrichment was analyzed. Feature genes for OA diagnosis were selected from DETMRGs using a combination of least absolute shrinkage and selection operator, support vector machine-recursive feature elimination, and Random Forest algorithms. The diagnostic value of these feature genes was then validated through receiver operating characteristic (ROC) curves and decision curve analysis. Additionally, CIBERSORT and xCell were employed to assess the infiltration of immune cells in OA tissues.Finally, potential drugs targeting candidate genes were predicted. Three telomererelated genes, PGD, SLC7A5, and TKT, have been identified as biomarkers for OA diagnosis and were confirmed through ROC diagnostic tests. The immune infiltration of mast cells, neutrophils, common lymphoid precursors, and eosinophils associated with PGD, SLC7A5, and TKT was reduced. Recognizing telomere-related genes PGD, SLC7A5, and TKT as potential diagnostic biomarkers for OA is significant, as it offers valuable insights into the role of telomere-related genes in OA. This discovery also provides valuable information for the diagnosis and treatment of OA.
7.Analysis of the current situation of retinopathy of prematurity in Xiamen region and its influencing factors
Shuangshuang YE ; Wenhui LI ; Baozhu XU ; Tingyu GU ; Ruirui SUN ; Hexie CAI
International Eye Science 2025;25(7):1195-1200
AIM: To investigate the current status of retinopathy of prematurity(ROP)in premature infants in Xiamen and analyze its influencing factors, aiming to provide a scientific basis for clinical treatment and preventive strategies.METHODS: A retrospective study was conducted on the case data of 363 preterm infants with a gestational age of <32 wk who underwent fundus examination at Xiang'an Hospital of Xiamen University from February 11, 2020 to February 25, 2023. The incidence of ROP was statistically analyzed based on the screening results. All premature infants were divided into ROP group(37 cases, 64 eyes)and non-ROP group(326 cases, 652 eyes). General clinical data and perinatal-related information of the two groups were compared, and multivariate Logistic regression analysis was used to identify factors influencing the occurrence of ROP in premature infants.RESULTS: A total of 363 premature infants were included in this study. The fundus screening results showed that a total of 37 cases(64 eyes)of premature infants were detected with ROP, including 10 cases(10 eyes)monocular and 27 cases(54 eyes)binocular, with an overall incidence of 10.2%(37/363). The severity was determined according to the ROP international classification standard(ROP is divided into 5 stages, with stage I being the least severe and stage V the most severe). Among the 64 eyes, 30 eyes(46.9%)were in stage I, 20 eyes(31.3%)were in stage II, 10 eyes(15.6%)were in stage III, 4 eyes(6.3%)were in stage IV, and there were no cases in stage V. By comparing the clinical data of the two groups, no significant differences were found in gender, mode of delivery, singleton or multiple births, premature rupture of membranes, history of asphyxia, patent ductus arteriosus(PDA), or neonatal respiratory distress syndrome(NRDS)between the two groups(all P>0.05). However, premature infants in the ROP group had significantly younger gestational age and lower birth weight compared to those in the non-ROP group(all P<0.05). Additionally, the ROP group had higher proportions of longer hospital stays, bronchopulmonary dysplasia(BPD), neonatal sepsis, anemia, oxygen therapy for more than 1 wk, oxygen concentration above 40%, and blood transfusion treatment(all P<0.05). Multivariate Logistic regression analysis revealed that combined neonatal sepsis(OR=166.985, 95% CI: 35.239-791.277, P<0.001), anemia(OR=8.111, 95% CI: 2.064-31.871, P=0.003), oxygen use time >1 wk(OR=10.216, 95% CI: 2.543-41.039, P=0.001), oxygen therapy concentration >40%(OR=7.647, 95% CI: 1.913-30.566, P=0.004), and receiving blood transfusion therapy(OR=5.879, 95% CI: 1.412-24.470, P=0.015)were the main risk factors affecting the occurrence of ROP in preterm infants, and the higher birth weight of preterm infants was a protective factor for ROP(OR=0.093, 95% CI: 0.022-0.394, P=0.001).CONCLUSION: The incidence of ROP in premature infants is relatively high, and there are multiple influencing factors. Low birth weight, neonatal sepsis, anemia, oxygen therapy, and blood transfusion treatment are high-risk factors for ROP in premature infants. Clinical attention should be given to such infants, and fundus screening should be conducted in a standardized manner to provide early treatment, thereby further reducing the risk of ROP in premature infants.
8.The efficacy of skin soft tissue expansion and recombinant human epidermal growth factor in the repair of second-degree scald scars: a prospective single-blind randomized controlled trial
Hui HE ; Miaomiao XU ; Wenlu ZHANG ; Jia YE
Annals of Surgical Treatment and Research 2025;108(5):325-330
Purpose:
This research observed the efficacy and safety of soft tissue expansion combined with recombinant human epidermal growth factor (rhEGF) in repairing second-degree scald scars.
Methods:
This study conducted a prospective, single-blind, randomized controlled trial. Eighty-four patients with deep second-degree scald scars were evenly divided into the control and observation groups. The control group was treated with soft tissue expansion, and the observation group was additionally treated with rhEGF. The skin expansion and wound healing times were compared. The changes in wound exudate and inflammation around the wound were observed after first-stage surgery. The hydroxyproline (OHP) and collagen I/III ratios were compared during the second stage of surgery.The complications and repair effects during treatment were evaluated.
Results:
The observation group exhibited lower expansion time, immediate retraction rate, and wound healing time, higher skin expansion rate, higher wound exudate score and inflammation score, higher OHP, lower collagen I/III, lower complication rate, and higher total effective rate than the control group (all P < 0.05).
Conclusion
Skin soft tissue expansion combined with rhEGF is more effective in repairing second-degree scald scars, which can effectively increase skin expansion area and reduce wound infection and complications.
9.Integrated molecular characterization of sarcomatoid hepatocellular carcinoma
Rong-Qi SUN ; Yu-Hang YE ; Ye XU ; Bo WANG ; Si-Yuan PAN ; Ning LI ; Long CHEN ; Jing-Yue PAN ; Zhi-Qiang HU ; Jia FAN ; Zheng-Jun ZHOU ; Jian ZHOU ; Cheng-Li SONG ; Shao-Lai ZHOU
Clinical and Molecular Hepatology 2025;31(2):426-444
Background:
s/Aims: Sarcomatoid hepatocellular carcinoma (HCC) is a rare histological subtype of HCC characterized by extremely poor prognosis; however, its molecular characterization has not been elucidated.
Methods:
In this study, we conducted an integrated multiomics study of whole-exome sequencing, RNA-seq, spatial transcriptome, and immunohistochemical analyses of 28 paired sarcomatoid tumor components and conventional HCC components from 10 patients with sarcomatoid HCC, in order to identify frequently altered genes, infer the tumor subclonal architectures, track the genomic evolution, and delineate the transcriptional characteristics of sarcomatoid HCCs.
Results:
Our results showed that the sarcomatoid HCCs had poor prognosis. The sarcomatoid tumor components and the conventional HCC components were derived from common ancestors, mostly accessing similar mutational processes. Clonal phylogenies demonstrated branched tumor evolution during sarcomatoid HCC development and progression. TP53 mutation commonly occurred at tumor initiation, whereas ARID2 mutation often occurred later. Transcriptome analyses revealed the epithelial–mesenchymal transition (EMT) and hypoxic phenotype in sarcomatoid tumor components, which were confirmed by immunohistochemical staining. Moreover, we identified ARID2 mutations in 70% (7/10) of patients with sarcomatoid HCC but only 1–5% of patients with non-sarcomatoid HCC. Biofunctional investigations revealed that inactivating mutation of ARID2 contributes to HCC growth and metastasis and induces EMT in a hypoxic microenvironment.
Conclusions
We offer a comprehensive description of the molecular basis for sarcomatoid HCC, and identify genomic alteration (ARID2 mutation) together with the tumor microenvironment (hypoxic microenvironment), that may contribute to the formation of the sarcomatoid tumor component through EMT, leading to sarcomatoid HCC development and progression.
10.Long-term Outcomes of Endoscopic Radiofrequency Ablation versus Endoscopic Submucosal Dissection for Widespread Superficial Esophageal Squamous Cell Neoplasia
Xin TANG ; Qian-Qian MENG ; Ye GAO ; Chu-Ting YU ; Yan-Rong ZHANG ; Yan BIAN ; Jin-Fang XU ; Lei XIN ; Wei WANG ; Han LIN ; Luo-Wei WANG
Gut and Liver 2025;19(2):198-206
Background/Aims:
Endoscopic radiofrequency ablation (ERFA) is a treatment option for superficial esophageal squamous cell neoplasia (ESCN), with a relatively low risk of stenosis; however, the long-term outcomes remain unclear. We aimed to compare the long-term outcomes of patients with widespread superficial ESCN who underwent endoscopic submucosal dissection (ESD) or ERFA.
Methods:
We retrospectively analyzed the clinical data of patients with superficial ESCN who underwent ESD or ERFA between January 2015 and December 2021. The primary outcome measure was recurrence-free survival.
Results:
Ninety-two and 33 patients with superficial ESCN underwent ESD and ERFA, respectively. The en bloc, R0, and curative resection rates for ESD were 100.0%, 90.2%, and 76.1%, respectively. At 12 months, the complete response rate was comparable between the two groups (94.6% vs 90.9%, p=0.748). During a median follow-up of 66 months, recurrence-free survival was significantly longer in the ESD group than in the ERFA group (p=0.004), while no significant differences in overall survival (p=0.845) and disease-specific survival (p=0.494) were observed.Preoperative diagnosis of intramucosal cancer (adjusted hazard ratio, 5.55; vs high-grade intraepithelial neoplasia) was an independent predictor of recurrence. Significantly fewer patients in the ERFA group experienced stenosis compare to ESD group (15.2% vs 38.0%, p=0.016).
Conclusions
The risk of recurrence was higher for ERFA than ESD for ESCN but overall survival was not affected. The risk of esophageal stenosis was significantly lower for patients who underwent ERFA.

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