1.Long-term survival outcomes and prognostic factors following radical resection of pancreatic body and tail cancer:a retrospective analysis of 992 patients
Dong XU ; Yang WU ; Kai ZHANG ; Nan LYU ; Qianqian WANG ; Pengfei WU ; Jie YIN ; Baobao CAI ; Guodong SHI ; Jianzhen LIN ; Yazhou WANG ; Lingdi YIN ; Zipeng LU ; Min TU ; Jianmin CHEN ; Feng GUO ; Jishu WEI ; Junli WU ; Wentao GAO ; Cuncai DAI ; Yi MIAO ; Kuirong JIANG
Chinese Journal of Surgery 2026;64(1):46-54
Objective:To investigate the survival outcomes and prognostic factors in patients undergoing radical resection for pancreatic body and tail cancer.Methods:A retrospective case series study was conducted on 992 patients who underwent radical resection for pancreatic body and tail cancer at the Pancreatic Center of the First Affiliated Hospital of Nanjing Medical University from January 2016 to June 2024. In this study, 577 (58.2%) were male and 415 (41.8%) were female,with an age of (65±9) years (range: 26 to 86 years). Follow-up continued until June 2024. Survival rates were estimated using the Kaplan-Meier method,and prognostic factors were identified using univariate and multivariate Cox proportional hazards models.Results:Among 992 patients,open surgery was the predominant approach (89.1%, 884/992), and radical antegrade modular pancreatosplenectomy (RAMPS) was performed in 317 patients (32.0%). Combined organ resection,venous resection,and arterial resection were performed in 23.5%, 9.3%,and 11.2% of patients,respectively. The rates of R0, R1-1 mm, and R1-direct resections were 49.8% (494/992),41.5% (412/992), and 8.7% (86/992),respectively. Stage ⅡB was the most common TNM stage (32.2%,319/992). A total of 801 patients (80.8%) received adjuvant chemotherapy. The median follow-up period was 32.0(8.8) months(range:3.2 to 105.3 months),during which 508 patients (51.2%) died. The overall median survival (OS) was 26.4 months,with 1-,3-, and 5-year survival rates of 79.0%,40.0%, and 29.0%, respectively. In the recent five years (from 2020 to 2024), the median OS improved significantly to 34.1 months compared to 20.0 months from 2016 to 2019 ( P<0.01). Histological subtype analysis showed that the median OS time was 26.7 months for pancreatic ductal adenocarcinoma (PDAC, n=855),58.9 months for invasive intraductal papillary mucinous carcinoma (IPMC, n=32),and 15.7 months for adenosquamous carcinoma of pancreas (ASCP, n=73) ( P=0.001). Among PDAC patients, adjuvant chemotherapy significantly improved survival (29.1 months vs. 14.4 months, P<0.01);in IPMC patients, adjuvant chemotherapy also extended survival (65.7 months vs. 58.9 months, P=0.047). Although ASCP patients receiving chemotherapy had a longer median OS time than those without (18.8 months vs. 8.9 months),the difference was not statistically significant ( P=0.151). Multivariate Cox regression analysis in PDAC patients indicated that adjuvant chemotherapy, R0 resection, T stage,N stage,and tumor differentiation were independent prognostic factors ( P<0.01). The median OS time by TNM stage was:not reached for stage ⅠA, 51.6 months for ⅠB, 25.5 months for ⅡA, 23.7 months for ⅡB, 23.0 months for Ⅲ, and 14.4 months for Ⅳ. The median OS time for R0,R1-1 mm,and R1-direct resections was 34.1,24.7,and 15.7 months,respectively ( P<0.01). Conclusion:Adjuvant chemotherapy,R0 resection,tumor stage,and differentiation are independent prognostic factors for pancreatic body and tail cancer.
2.Long-term survival outcomes and prognostic factors following radical resection of pancreatic body and tail cancer:a retrospective analysis of 992 patients
Dong XU ; Yang WU ; Kai ZHANG ; Nan LYU ; Qianqian WANG ; Pengfei WU ; Jie YIN ; Baobao CAI ; Guodong SHI ; Jianzhen LIN ; Yazhou WANG ; Lingdi YIN ; Zipeng LU ; Min TU ; Jianmin CHEN ; Feng GUO ; Jishu WEI ; Junli WU ; Wentao GAO ; Cuncai DAI ; Yi MIAO ; Kuirong JIANG
Chinese Journal of Surgery 2026;64(1):46-54
Objective:To investigate the survival outcomes and prognostic factors in patients undergoing radical resection for pancreatic body and tail cancer.Methods:A retrospective case series study was conducted on 992 patients who underwent radical resection for pancreatic body and tail cancer at the Pancreatic Center of the First Affiliated Hospital of Nanjing Medical University from January 2016 to June 2024. In this study, 577 (58.2%) were male and 415 (41.8%) were female,with an age of (65±9) years (range: 26 to 86 years). Follow-up continued until June 2024. Survival rates were estimated using the Kaplan-Meier method,and prognostic factors were identified using univariate and multivariate Cox proportional hazards models.Results:Among 992 patients,open surgery was the predominant approach (89.1%, 884/992), and radical antegrade modular pancreatosplenectomy (RAMPS) was performed in 317 patients (32.0%). Combined organ resection,venous resection,and arterial resection were performed in 23.5%, 9.3%,and 11.2% of patients,respectively. The rates of R0, R1-1 mm, and R1-direct resections were 49.8% (494/992),41.5% (412/992), and 8.7% (86/992),respectively. Stage ⅡB was the most common TNM stage (32.2%,319/992). A total of 801 patients (80.8%) received adjuvant chemotherapy. The median follow-up period was 32.0(8.8) months(range:3.2 to 105.3 months),during which 508 patients (51.2%) died. The overall median survival (OS) was 26.4 months,with 1-,3-, and 5-year survival rates of 79.0%,40.0%, and 29.0%, respectively. In the recent five years (from 2020 to 2024), the median OS improved significantly to 34.1 months compared to 20.0 months from 2016 to 2019 ( P<0.01). Histological subtype analysis showed that the median OS time was 26.7 months for pancreatic ductal adenocarcinoma (PDAC, n=855),58.9 months for invasive intraductal papillary mucinous carcinoma (IPMC, n=32),and 15.7 months for adenosquamous carcinoma of pancreas (ASCP, n=73) ( P=0.001). Among PDAC patients, adjuvant chemotherapy significantly improved survival (29.1 months vs. 14.4 months, P<0.01);in IPMC patients, adjuvant chemotherapy also extended survival (65.7 months vs. 58.9 months, P=0.047). Although ASCP patients receiving chemotherapy had a longer median OS time than those without (18.8 months vs. 8.9 months),the difference was not statistically significant ( P=0.151). Multivariate Cox regression analysis in PDAC patients indicated that adjuvant chemotherapy, R0 resection, T stage,N stage,and tumor differentiation were independent prognostic factors ( P<0.01). The median OS time by TNM stage was:not reached for stage ⅠA, 51.6 months for ⅠB, 25.5 months for ⅡA, 23.7 months for ⅡB, 23.0 months for Ⅲ, and 14.4 months for Ⅳ. The median OS time for R0,R1-1 mm,and R1-direct resections was 34.1,24.7,and 15.7 months,respectively ( P<0.01). Conclusion:Adjuvant chemotherapy,R0 resection,tumor stage,and differentiation are independent prognostic factors for pancreatic body and tail cancer.
3.The Expression and Clinical Significance of PHB2 in Diabetic Kidney Disease
Wei-min ZHAO ; Qi AO ; Bin WU ; Cai-hua LIE
Progress in Modern Biomedicine 2025;25(13):2130-2137
Objective:To investigate the expression and clinical significance of Prohibitin 2(PHB2)in the kidney tissue of patients with Diabetic Kidney Disease(DKD).Methods:From March 2015 to May 2024,samples were collected from 16 patients diagnosed with diabetic nephropathy through renal biopsy,who met the inclusion criteria(referred to as the DKD group).Additionally,20 patients with renal tumors undergoing nephrectomy,who had partially normal kidney tissue,were selected to serve as the control group(NC group).The pathological changes of the two groups of samples were evaluated by HE and PAS staining.Immunohistochemistry was utilized to analyze the differences in PHB2 protein expression between the two groups.Pearson or Spearman correlation methods were applied for statistical analysis.Results:PHB2 was expressed in renal tubules,and its expression level in the diabetic kidney disease(DKD)group was significantly lower than that in the normal control(NC)group(P<0.05).Additionally,the expression level of PHB2 in diabetic nephropathy was found to be negatively correlated with glycated hemoglobin,serum creatinine,cystatin C,and blood urea nitrogen(P<0.05).In contrast,there was a positive correlation between PHB2 expression and the estimated glomerular filtration rate(eGFR)(P<0.05).Therefore,PHB2 expression serves as a negative correlation factor for serum creatinine,cystatin C,and blood urea nitrogen,while being a positive correlation factor for eGFR.Conclusions:In patients with diabetic nephropathy,the expression of PHB2 in renal tissue significantly decreases.This reduction in PHB2 levels closely correlates with glucose metabolism and renal function.Low levels of PHB2 may worsen glucose metabolism disorders,renal function damage,and proteinuria.Therefore,PHB2 serves as a potential biomarker for assessing prognosis and offers new insights into the treatment of diabetic kidney disease.
4.Early diagnostic value and related mechanism of Lnc-IL7R/Jmjd3/KGF axis in inflammatory injury of acute respiratory distress syndrome
Feng ZHOU ; Qixiang YIN ; Faxing WEI ; Min WU ; Haimin LIN ; Huazhong CAI
Chinese Journal of Immunology 2025;41(11):2583-2590
Objective:To explore the early diagnostic value and related mechanism of Lnc-IL7R/Jumonji domain-containing protein 3(Jmjd3)/keratinocyte growth factor(KGF)axis in inflammatory injury of acute respiratory distress syndrome(ARDS).Methods:① RT-qPCR and Western blot were used to detect Lnc-IL7R,Jmjd3,KGF mRNA and protein levels,as well as trimethyl-ation of histone H3 at lysine 27(H3K27)me3 protein level in serum of ARDS patients;ELISA was used to detect IL-1β,IL-6,TNF-α levels in serum.② Mitochondrial damage-associated molecular patterns(MTDs)was used to stimulate HBE cells and create traumatic ARDS cell model.HBE cells were divided into control group,model group(MTDs group),overexpression Lnc-IL7R group(Lnc-IL7R group),overexpression control group(NC group),overexpression Lnc-IL7R+overexpression Jmjd3 group(Lnc-IL7R+Jm-jd3 group).Chromatin immunoprecipitation(ChIP)was used to detect Jmjd3,IL-1β,IL-6,TNF-α histone methylation levels in pro-moter region;qRT-PCR and Western blot were used to detect Lnc-IL7R,Jmjd3,KGF,IL-1β,IL-6,TNF-α mRNA and protein levels,as well as H3K27me3 protein level.③ Injection of MTDs into tail vein of mice was used to create traumatic ARDS mice model.Eighty mice were divided into control group,MTDs group,Lnc-IL7R group,NC group and Lnc-IL7R+Jmjd3 group,with sixteen mice in each group.HE staining was used to detect pathological damage in lung tissue;ChIP and RT-qPCR were used to detect Lnc-IL7R,Jmjd3,IL-1β,IL-6,TNF-α histone methylation levels in the promoter region and mRNA levels;ELISA was used to detect IL-1β,IL-6,TNF-α protein levels in BALF;Western blot was used to detect Jmjd3,KGF,H3K27me3 protein levels in lung tissue;immunohisto-chemical staining was used to detect surfactant protein C(SPC)and surfactant protein D(SPD)protein levels in lung tissue.Results:①Compared with healthy individuals,Lnc-IL7R,Jmjd3,KGF mRNA and protein levels,IL-1β,IL-6,TNF-α protein levels in serum of ARDS patients were significant increased,while H3K27me3 protein level was significant decreased(P<0.05).②Compared with control group,Jmjd3,IL-1β,IL-6,TNF-α histone methylation levels in the promoter region,H3K27me3 protein level in HBE of MTDs group were significant decreased,while Lnc-IL7R,Jmjd3,KGF,IL-1β,IL-6,TNF-α mRNA and protein levels,Lnc-IL7R were significant increased(P<0.05);after overexpression of Lnc-IL7R,Lnc-IL7R,Jmjd3,IL-1β,IL-6,TNF-α histone methylation levels in the promoter region,KGF mRNA and protein levels,H3K27me3 protein level were significant increased,Jmjd3,IL-1β,IL-6,TNF-α mRNA and protein levels in lung tissue and BALF were significant decreased(P<0.05);overexpression of Jmjd3 could partially reverse the effects of overexpression of Lnc-IL7R on the above indicators(P<0.05).③Compared with Control group,Jmjd3,IL-1β,IL-6,TNF-α histone methylation levels in the promoter region,H3K27me3 protein level in lung tissue of MTDs group were significant decreased,while Lnc-IL7R,Jmjd3,KGF,IL-1β,IL-6,TNF-α mRNA and protein levels,H3K27me3,SPC,SPD protein levels in lung tissue and BALF were significant increased(P<0.05);after overexpression of Lnc-IL7R,Lnc-IL7R,Jmjd3,IL-1β,IL-6,TNF-α histone methylation levels in the promoter region,KGF mRNA and protein levels,H3K27me3,SPC,SPD protein levels in lung tissue were significant increased,while Jmjd3,IL-1β,IL-6,TNF-α mRNA and protein levels in lung tissue and BALF were significant decreased(P<0.05);overexpression of Jmjd3 could partially reverse the effects of overexpression of Lnc-IL7R on the above indicators(P<0.05).Conclusion:Lnc-IL7R/Jmjd3/KGF axis participates in inflammation regulation and alveolar epithelial cell injury repair in ARDS by regulating histone methylation modifications in the promoter region.Lnc-IL7R/Jmjd3/KGF can be used for early diagnosis of ARDS.
5.The Expression and Clinical Significance of PHB2 in Diabetic Kidney Disease
Wei-min ZHAO ; Qi AO ; Bin WU ; Cai-hua LIE
Progress in Modern Biomedicine 2025;25(13):2130-2137
Objective:To investigate the expression and clinical significance of Prohibitin 2(PHB2)in the kidney tissue of patients with Diabetic Kidney Disease(DKD).Methods:From March 2015 to May 2024,samples were collected from 16 patients diagnosed with diabetic nephropathy through renal biopsy,who met the inclusion criteria(referred to as the DKD group).Additionally,20 patients with renal tumors undergoing nephrectomy,who had partially normal kidney tissue,were selected to serve as the control group(NC group).The pathological changes of the two groups of samples were evaluated by HE and PAS staining.Immunohistochemistry was utilized to analyze the differences in PHB2 protein expression between the two groups.Pearson or Spearman correlation methods were applied for statistical analysis.Results:PHB2 was expressed in renal tubules,and its expression level in the diabetic kidney disease(DKD)group was significantly lower than that in the normal control(NC)group(P<0.05).Additionally,the expression level of PHB2 in diabetic nephropathy was found to be negatively correlated with glycated hemoglobin,serum creatinine,cystatin C,and blood urea nitrogen(P<0.05).In contrast,there was a positive correlation between PHB2 expression and the estimated glomerular filtration rate(eGFR)(P<0.05).Therefore,PHB2 expression serves as a negative correlation factor for serum creatinine,cystatin C,and blood urea nitrogen,while being a positive correlation factor for eGFR.Conclusions:In patients with diabetic nephropathy,the expression of PHB2 in renal tissue significantly decreases.This reduction in PHB2 levels closely correlates with glucose metabolism and renal function.Low levels of PHB2 may worsen glucose metabolism disorders,renal function damage,and proteinuria.Therefore,PHB2 serves as a potential biomarker for assessing prognosis and offers new insights into the treatment of diabetic kidney disease.
6.Early diagnostic value and related mechanism of Lnc-IL7R/Jmjd3/KGF axis in inflammatory injury of acute respiratory distress syndrome
Feng ZHOU ; Qixiang YIN ; Faxing WEI ; Min WU ; Haimin LIN ; Huazhong CAI
Chinese Journal of Immunology 2025;41(11):2583-2590
Objective:To explore the early diagnostic value and related mechanism of Lnc-IL7R/Jumonji domain-containing protein 3(Jmjd3)/keratinocyte growth factor(KGF)axis in inflammatory injury of acute respiratory distress syndrome(ARDS).Methods:① RT-qPCR and Western blot were used to detect Lnc-IL7R,Jmjd3,KGF mRNA and protein levels,as well as trimethyl-ation of histone H3 at lysine 27(H3K27)me3 protein level in serum of ARDS patients;ELISA was used to detect IL-1β,IL-6,TNF-α levels in serum.② Mitochondrial damage-associated molecular patterns(MTDs)was used to stimulate HBE cells and create traumatic ARDS cell model.HBE cells were divided into control group,model group(MTDs group),overexpression Lnc-IL7R group(Lnc-IL7R group),overexpression control group(NC group),overexpression Lnc-IL7R+overexpression Jmjd3 group(Lnc-IL7R+Jm-jd3 group).Chromatin immunoprecipitation(ChIP)was used to detect Jmjd3,IL-1β,IL-6,TNF-α histone methylation levels in pro-moter region;qRT-PCR and Western blot were used to detect Lnc-IL7R,Jmjd3,KGF,IL-1β,IL-6,TNF-α mRNA and protein levels,as well as H3K27me3 protein level.③ Injection of MTDs into tail vein of mice was used to create traumatic ARDS mice model.Eighty mice were divided into control group,MTDs group,Lnc-IL7R group,NC group and Lnc-IL7R+Jmjd3 group,with sixteen mice in each group.HE staining was used to detect pathological damage in lung tissue;ChIP and RT-qPCR were used to detect Lnc-IL7R,Jmjd3,IL-1β,IL-6,TNF-α histone methylation levels in the promoter region and mRNA levels;ELISA was used to detect IL-1β,IL-6,TNF-α protein levels in BALF;Western blot was used to detect Jmjd3,KGF,H3K27me3 protein levels in lung tissue;immunohisto-chemical staining was used to detect surfactant protein C(SPC)and surfactant protein D(SPD)protein levels in lung tissue.Results:①Compared with healthy individuals,Lnc-IL7R,Jmjd3,KGF mRNA and protein levels,IL-1β,IL-6,TNF-α protein levels in serum of ARDS patients were significant increased,while H3K27me3 protein level was significant decreased(P<0.05).②Compared with control group,Jmjd3,IL-1β,IL-6,TNF-α histone methylation levels in the promoter region,H3K27me3 protein level in HBE of MTDs group were significant decreased,while Lnc-IL7R,Jmjd3,KGF,IL-1β,IL-6,TNF-α mRNA and protein levels,Lnc-IL7R were significant increased(P<0.05);after overexpression of Lnc-IL7R,Lnc-IL7R,Jmjd3,IL-1β,IL-6,TNF-α histone methylation levels in the promoter region,KGF mRNA and protein levels,H3K27me3 protein level were significant increased,Jmjd3,IL-1β,IL-6,TNF-α mRNA and protein levels in lung tissue and BALF were significant decreased(P<0.05);overexpression of Jmjd3 could partially reverse the effects of overexpression of Lnc-IL7R on the above indicators(P<0.05).③Compared with Control group,Jmjd3,IL-1β,IL-6,TNF-α histone methylation levels in the promoter region,H3K27me3 protein level in lung tissue of MTDs group were significant decreased,while Lnc-IL7R,Jmjd3,KGF,IL-1β,IL-6,TNF-α mRNA and protein levels,H3K27me3,SPC,SPD protein levels in lung tissue and BALF were significant increased(P<0.05);after overexpression of Lnc-IL7R,Lnc-IL7R,Jmjd3,IL-1β,IL-6,TNF-α histone methylation levels in the promoter region,KGF mRNA and protein levels,H3K27me3,SPC,SPD protein levels in lung tissue were significant increased,while Jmjd3,IL-1β,IL-6,TNF-α mRNA and protein levels in lung tissue and BALF were significant decreased(P<0.05);overexpression of Jmjd3 could partially reverse the effects of overexpression of Lnc-IL7R on the above indicators(P<0.05).Conclusion:Lnc-IL7R/Jmjd3/KGF axis participates in inflammation regulation and alveolar epithelial cell injury repair in ARDS by regulating histone methylation modifications in the promoter region.Lnc-IL7R/Jmjd3/KGF can be used for early diagnosis of ARDS.
7.Exploration of the medication pattern of traditional Chinese medicine for exogenous cough based on R language data mining
Jiale MA ; Qiong CAI ; Mingrui WEI ; Jia WU ; Min PI ; Zekun YANG ; Lanting YANG ; Jiangping XIAO ; Shuqiong ZHANG ; Xilong PAN
Chinese Journal of Pharmacoepidemiology 2025;34(10):1147-1158
Objective To collect and analyze outpatient prescription data for exogenous cough treatment from a hospital in Shenzhen,and to identify the characteristics and medication patterns of traditional Chinese medicine(TCM).Methods This study collected prescriptions from a hospital in Shenzhen for exogenous cough treatment in January 2024.R language for data mining were used to analyze the medication frequency,clustering patterns,and association rules in the treatment of exogenous cough by TCM and to explore the medication patterns and the usage of classic formulas in TCM for this condition.Results A total of 451 outpatient prescriptions for exogenous cough were include,the top ten most frequently used herbs were Licorice,Bitter almond,Bellflower,Ephedra,Tangerine peel,Stemonae radix,Tuckahoe,Pinellia ternata,Nepeta,Bulb of thunberg fritillary.Cluster analysis and association rules revealed that San'ao decoction,Kikyodon soup,and Zhisou powder were commonly prescribed,targeting lung function,dispersing wind,and resolving phlegm to effectively alleviate cough symptoms.Significant differences in medication usage were observed across different syndrome types.For the wind cold attacking lung pattern,the core herbs were warm in nature and focused on dispersing with acrid-warm properties.Conversely,the treatment of wind heat attacking the lung pattern typically involved cold-natured herbs,with a primary focus on clearing and draining lung heat.Stratification by age revealed that the pediatric group often used drugs with mild properties,such as Stemona and Shegan.The young adult group tended to be prescribed cold-natured drugs like Forsythia and Hogfonnel Root.The middle-aged and elderly group preferred warming and tonifying drugs such as Japanese Catnip and Perilla frutescens.Conclusion The TCM treatment of exogenous cough primarily focuses on releasing the exterior and dispersing the lung.Due to the region's subtropical monsoon climate and temperature fluctuations physicians flexibly modified classical formulas such as San'ao decoction and Zhisou powder according to individual constitutions and symptom patterns.This targeted,syndrome-based approach effectively disperses the lung qi,stops cough and transforms phlegm,and alleviates cough.
8.Exploration of the medication pattern of traditional Chinese medicine for exogenous cough based on R language data mining
Jiale MA ; Qiong CAI ; Mingrui WEI ; Jia WU ; Min PI ; Zekun YANG ; Lanting YANG ; Jiangping XIAO ; Shuqiong ZHANG ; Xilong PAN
Chinese Journal of Pharmacoepidemiology 2025;34(10):1147-1158
Objective To collect and analyze outpatient prescription data for exogenous cough treatment from a hospital in Shenzhen,and to identify the characteristics and medication patterns of traditional Chinese medicine(TCM).Methods This study collected prescriptions from a hospital in Shenzhen for exogenous cough treatment in January 2024.R language for data mining were used to analyze the medication frequency,clustering patterns,and association rules in the treatment of exogenous cough by TCM and to explore the medication patterns and the usage of classic formulas in TCM for this condition.Results A total of 451 outpatient prescriptions for exogenous cough were include,the top ten most frequently used herbs were Licorice,Bitter almond,Bellflower,Ephedra,Tangerine peel,Stemonae radix,Tuckahoe,Pinellia ternata,Nepeta,Bulb of thunberg fritillary.Cluster analysis and association rules revealed that San'ao decoction,Kikyodon soup,and Zhisou powder were commonly prescribed,targeting lung function,dispersing wind,and resolving phlegm to effectively alleviate cough symptoms.Significant differences in medication usage were observed across different syndrome types.For the wind cold attacking lung pattern,the core herbs were warm in nature and focused on dispersing with acrid-warm properties.Conversely,the treatment of wind heat attacking the lung pattern typically involved cold-natured herbs,with a primary focus on clearing and draining lung heat.Stratification by age revealed that the pediatric group often used drugs with mild properties,such as Stemona and Shegan.The young adult group tended to be prescribed cold-natured drugs like Forsythia and Hogfonnel Root.The middle-aged and elderly group preferred warming and tonifying drugs such as Japanese Catnip and Perilla frutescens.Conclusion The TCM treatment of exogenous cough primarily focuses on releasing the exterior and dispersing the lung.Due to the region's subtropical monsoon climate and temperature fluctuations physicians flexibly modified classical formulas such as San'ao decoction and Zhisou powder according to individual constitutions and symptom patterns.This targeted,syndrome-based approach effectively disperses the lung qi,stops cough and transforms phlegm,and alleviates cough.
9.Exon Sequencing of HNF1β in Chinese Patients with Early-Onset Diabetes
Siqian GONG ; Hong LIAN ; Yating LI ; Xiaoling CAI ; Wei LIU ; Yingying LUO ; Meng LI ; Si-min ZHANG ; Rui ZHANG ; Lingli ZHOU ; Yu ZHU ; Qian REN ; Xiuying ZHANG ; Jing CHEN ; Jing WU ; Xianghai ZHOU ; Xirui WANG ; Xueyao HAN ; Linong JI
Diabetes & Metabolism Journal 2025;49(2):321-330
Background:
Maturity-onset diabetes of the young (MODY) due to variants of hepatocyte nuclear factor 1-beta (HNF1β) (MODY5) has not been well studied in the Chinese population. This study aimed to estimate its prevalence and evaluate the application of a clinical screening method (Faguer score) in Chinese early-onset diabetes (EOD) patients.
Methods:
Among 679 EOD patients clinically diagnosed with type 2 diabetes mellitus (age at diagnosis ≤40 years), the exons of HNF1β were sequenced. Functional impact of rare variants was evaluated using a dual-luciferase reporter system. Faguer scores ≥8 prompted multiplex ligation-dependent probe amplification (MLPA) for large deletions. Pathogenicity of HNF1β variants was assessed following the American College of Medical Genetics and Genomics (ACMG) guidelines.
Results:
Two rare HNF1β missense mutations (E105K and G454R) were identified by sequencing in five patients, showing functional impact in vitro. Another patient was found to have a whole-gene deletion by MLPA in 22 patients with the Faguer score above 8. Following ACMG guidelines, six patients carrying pathogenic or likely pathogenic variant were diagnosed with MODY5. The estimated prevalence of MODY5 in Chinese EOD patients was approximately 0.9% or higher.
Conclusion
MODY5 is not uncommon in China. The Faguer score is helpful in deciding whether to perform MLPA analysis on patients with negative sequencing results.
10.Exon Sequencing of HNF1β in Chinese Patients with Early-Onset Diabetes
Siqian GONG ; Hong LIAN ; Yating LI ; Xiaoling CAI ; Wei LIU ; Yingying LUO ; Meng LI ; Si-min ZHANG ; Rui ZHANG ; Lingli ZHOU ; Yu ZHU ; Qian REN ; Xiuying ZHANG ; Jing CHEN ; Jing WU ; Xianghai ZHOU ; Xirui WANG ; Xueyao HAN ; Linong JI
Diabetes & Metabolism Journal 2025;49(2):321-330
Background:
Maturity-onset diabetes of the young (MODY) due to variants of hepatocyte nuclear factor 1-beta (HNF1β) (MODY5) has not been well studied in the Chinese population. This study aimed to estimate its prevalence and evaluate the application of a clinical screening method (Faguer score) in Chinese early-onset diabetes (EOD) patients.
Methods:
Among 679 EOD patients clinically diagnosed with type 2 diabetes mellitus (age at diagnosis ≤40 years), the exons of HNF1β were sequenced. Functional impact of rare variants was evaluated using a dual-luciferase reporter system. Faguer scores ≥8 prompted multiplex ligation-dependent probe amplification (MLPA) for large deletions. Pathogenicity of HNF1β variants was assessed following the American College of Medical Genetics and Genomics (ACMG) guidelines.
Results:
Two rare HNF1β missense mutations (E105K and G454R) were identified by sequencing in five patients, showing functional impact in vitro. Another patient was found to have a whole-gene deletion by MLPA in 22 patients with the Faguer score above 8. Following ACMG guidelines, six patients carrying pathogenic or likely pathogenic variant were diagnosed with MODY5. The estimated prevalence of MODY5 in Chinese EOD patients was approximately 0.9% or higher.
Conclusion
MODY5 is not uncommon in China. The Faguer score is helpful in deciding whether to perform MLPA analysis on patients with negative sequencing results.

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