1.SMARCB1-deficient renal medullary carcinoma without sickle cell trait: clinicopathological and molecular characteristics
Huizhi ZHANG ; Jun HOU ; Xiaoqun YANG ; Qiuyuan XIA ; Suying WANG ; Yifen ZHANG ; Hong CHEN ; Xiaohui DING ; Heli WANG ; Ming ZHAO
Chinese Journal of Pathology 2025;54(8):838-844
Objective:To investigate the clinicopathological features including immunophenotype, molecular characteristics, differential diagnosis and prognosis of SMARCB1-deficient renal medullary carcinoma (RMC) without sickle cell trait.Methods:The clinicopathological data of 12 cases of SMARCB1-deficient RMC without sickle cell trait were collected from 7 domestic institutions during the period of 2015 to 2024. Their clinical characteristics, morphological features and immunohistochemical properties were observed and analyzed. High-throughput DNA-targeted next-generation sequencing was performed, and follow-up data were gathered along with relevant literature review.Results:Among the 12 patients, 5 were female and 7 were male. The patients age ranged from 27 to 84 years with a median age of 58.5 (46.0, 71.0) years. None of them had sickle cell disease or other hemoglobinopathies. Eight cases occurred in the left kidney and 4 cases were located in the right kidney. The average maximum diameter of the tumor was 6.1 (4.0,7.5) cm, with a range of 2.0 to 14.9 cm (the median maximum diameter 5.5 cm). Histologically, the tumors showed poorly differentiated adenocarcinoma, arranged in solid and tubular patterns. Papillary structure was noted in 5 cases, cribriform structure in 3 cases, rhabdoid differentiation in 3 cases, and sarcomatoid differentiation in 2 cases. Inflammatory desmoplastic stromal reaction was observed in 8 cases, among which stromal myxoid degeneration was seen in 6 cases. Tumor necrosis was apparent in 6 cases. The tumor cells had abundant eosinophilic or clear cytoplasm and prominent nucleoli. The nuclear grading was grade 3 or 4 according to the International Society of Urological Pathology (ISUP). Immunohistochemical staining showed that the tumor cells of all 12 cases expressed PAX8 and loss of SMARCB1/INI1 protein expression, and 5 of 10 cases expressed OCT3/4. Seven samples had valid archived paraffin tissues for high-throughput DNA-targeted next-generation sequencing. The results showed that all 7 cases had pathogenic mutations in the SMARCB1 gene. The mutation sites included exon5 c.595A>T (p.K199*), exon2 c.200_207del (p.S67*), exon2 p.G69VfsTer16, exon7 c.986G>T (p.S329I), exon7 c.886A>T (p.K296*), exon6 c.635T>A (p.L212*), exon5 c.577del (p.M193Wfs16), and exon6 c.784del (p.V262Sfs5). Follow-up data were obtained for 6 of 12 patients. Among them, 1 patient had lung and bone metastases, 1 patient had liver and bone metastases and 1 patient had multiple bone metastases at the time of diagnosis; 1 patient had bone metastases 5 months after surgery. One patient died of postoperative complications 10 days after surgery, 4 patients died of tumors (the survival time ranged from 4 to 8 months), and 1 patient had no recurrence or metastasis during the 8-month follow-up after surgery.Conclusions:SMARCB1-deficient RMC without sickle cell trait is a highly aggressive and poorly differentiated renal cell carcinoma. It has similar histomorphology, immunophenotype, molecular characteristics and prognosis to RMC, which further supports that it is a sporadic subtype of RMC related to sickle cell trait.
2.Analysis of Labeling Situation of Drug Instructions for Drug Dose Adjustment in Hemodialysis Patients with End-Stage Renal Disease
Siyan LI ; Jianghua SHEN ; Yan ZENG ; Yujie QIU ; Chen SHAO ; Suying YAN
Herald of Medicine 2025;44(3):491-496
Objective To investigate the labeling of dialysis-related information in the instructions of drugs for systemic use in patients with end-stage renal disease undergoing hemodialysis,and to provide reference for further standardization and im-provement of drug instructions.Methods Collected the information on pharmacokinetics and drug dose adjustment in hemodi-alysis patients with end-stage renal disease from the instructions of chemicals and biologics used systemically in XuanWu hospital's formulary from January to March 2023.Classified and compared the labeling rates of the corresponding information of the originally developed drugs and generic drugs,imported drugs and domestic drugs;Drugs eliminated by non-renal route,or with mo-lecular weight≥5 000,or binding rate of plasma protein ≥ 60%,or drug distribution volume>360L were classified as"non-dialysis group",and other drugs were classified as"dialysis group",compared the labeling rate of corresponding information of drugs in"dialysis group"and"non-dialysis group";and compared the labeling rate and content with relevant information in Lexicomp and Micromedex.Results Among the 930 drug instructions,the labeling rates of drug dialysis clearance,drug adjustment,and ex-plicit drug adjustment plan were 16.67%,25.16%,and 24.52%.There was no significant difference in the labeling rate of dialysis-related information between original and generic drugs,and imported and domestic drugs.There was a significant difference in the labeling rate of dialysis-related information between the"dialyzable group"and the"non-dialyzable group"(P<0.01).The differ-ence in the labeling rate of dialysis related information between the investigated drug instructions and the corresponding drugs in Lexicomp or Micromedex was statistically significant(P<0.01).Conclusion Attention should be paid to the lack of informa-tion and unclear labeling of hemodialysis patients with end-stage renal disease in the drug instructions by relevant departments.
3.Efficacy comparison of small-incision lenticule extraction and femtosecond assisted laser in situ keratomileusis in the treatment of myopia with astigmatism
Min ZHOU ; Suying YU ; Wanjiang DONG ; Long CHEN ; Miao HE
International Eye Science 2025;25(2):292-296
AIM: To compare the efficacy of small-incision lenticule extraction(SMILE)and femtosecond assisted laser in situ keratomileusis(FS-LASIK)in the treatment of patients with myopia and astigmatism.METHODS: Retrospective analysis. A total of 100 cases(200 eyes)of patients with myopia and astigmatism treated in our hospital from December 2021 to December 2022 were collected. Among them, 50 cases(100 eyes)were divided into SMILE group and 50 cases(100 eyes)were divided into FS-LASIK group according to the treatment plans. The visual acuity and astigmatism, corneal morphology parameters, subjective visual quality scores, ocular surface indicators, postoperative complications, and quality of life were compared between the two groups before and after surgery.RESULTS: There was no significant difference in uncorrected visual acuity(UCVA), best corrected visual acuity(BCVA), astigmatism, corneal asphericity Q value, corneal surface regularity index(SRI), corneal thickness, and corneal curvature between the two groups before surgery and at 1 d, 1, and 6 mo after surgery(all P>0.05). At 1 and 6 mo after surgery, the subjective visual quality score, the quality of life score, Schirmer I test(SⅠt)and tear film break-up time(BUT)in the SMILE group were better than that in the FS-LASIK group(all P<0.05). The incidence of complications in the SMILE group was lower than that in the FS-LASIK group at 6 mo after surgery(P=0.005).CONCLUSION: Both SMILE and FS-LASIK have good clinical effects in the treatment of myopia with astigmatism, but the SMILE could alleviate ocular surface injury, reduce the risk of complications and improve the quality of lifes for patients.
4.Effects of intestinal ischemia-reperfusion injury on distal organ function
Yurun XING ; Suying CHEN ; Jinheng TU ; Bosheng HE
Basic & Clinical Medicine 2025;45(3):395-398
Intestinal ischemia-reperfusion(I/R)injury firstly causes damage to the intestine itself.After the intes-tinal barrier and function are impaired,bacteria,metabolites and endotoxins in the intestine will enter the portal system through the damaged intestinal mucosa,and then participate in the systemic microcirculatory system through the liver to act on the distal organs.This leads to further damage and induces reperfusion syndrome and multiple or-gan dysfunction syndromes(MODS),which can lead to death in severe cases.
5.Three nutritional indices are effective predictors of all-cause mortality in patients with chronic obstructive pulmonary disease
Suying MAI ; Yayun NAN ; Wei WANG ; Yuanbo WU ; Qiong CHEN
Journal of Chongqing Medical University 2025;50(3):344-351
Objective:Malnutrition is prevalent among patients with chronic obstructive pulmonary disease(COPD)and closely associ-ated with adverse outcomes.This study aimed to evaluate the effectiveness of three nutritional indices in predicting all-cause mortality among COPD patients.Methods:Based on the National Health and Nutrition Examination Survey(NHANES),this study included 1640 patients with COPD surveyed from 1999 to 2018.The optimal cutoff values for controlling nutritional status(CONUT)score,geri-atric nutritional risk index(GNRI),and prognostic nutritional index(PNI)were determined using receiver operating characteristic curves.The predictive value of these nutritional indices was assessed using the area under the receiver operating characteristic curve and C-index.Their predictive abilities were compared using the net reclassification improvement and integrated discrimination improvement.A Cox regression analysis was conducted to explore the association of the three nutritional indices with all-cause mortality.Results:Log-rank tests revealed lower overall survival rates in patients with higher nutritional risks(P<0.001).In multivariate Cox regression adjusting for all covariates,CONUT score(hazard ratio[HR]=1.31,95%CI=1.03-1.67,P=0.030),GNRI(HR=2.02,95%CI=1.26-3.24,P=0.004),and PNI(HR=2.05,95%CI=1.53-2.75,P<0.001)were independently associated with all-cause mortality.Conclusion:This study confirms that the three nutritional indices are effective predictors of all-cause mortality in COPD patients.Compared with PNI,CONUT score and GNRI demonstrate im-proved predictive abilities,and they are recommended for routine screening for high-risk malnutrition in COPD patients.
6.Construction and performance evaluation of health examination main report scoring system
Qian QIN ; Jingfeng CHEN ; Suying DING
Chinese Journal of Health Management 2025;19(2):93-98
Objective:To construct a scoring system for the main examination report of health examination and evaluate its effect.Methods:A historical control study design was used in this study. By sorting out the problems in 321 main examination reports from December 2023 by equal proportion random sampling method, the quality control plan of main examination report of 2024 was formulated and the "Quality Control Rating Table of Checkup Summary Report" was constructed, which included the principle of conclusion words, classification, sorting, dynamic comparison, disease analysis, health guidance, consistency, completeness, language expression, timeliness and physician. Each principle had its corresponding scoring standard, with a total score of 100 points, 91-100 classified as grade A, 61-90 classified as grade B, and≤60 classified as grade C. According to the "Quality Control Rating Table of Checkup Summary Report", 1 691 main examin reports from January to June 2024 were selected for analysis. In addition, the differences of those reports were analyzed according to categories of primary examination physicians in internal medicine and subspecialties.Results:Compared with December 2023, the proportion of grade A report in June 2024 increased by 111.3% ( χ2=133.38, P<0.001), while the proportion of grade B and C reports decreased by 84.7% ( χ2=61.82, P<0.001) and 97.6% ( χ2=42.36, P<0.001), respectively. In terms of scoring principles, compared with December 2023, the error rates of conclusion words, disease analysis, health guidance and consistency in June 2024 were improved by 54.9%, 46.7%, 62.9% and 100.0%, respectively ( χ2=27.68, 13.41, 48.34 and 7.84, all P<0.001). Additionally, compared with 2023, the total scores of the checkup summary reports of internal medicine and subspecialties in 2024 were increased by 6.8% ( t=-6.843, P<0.001) and 12.6% ( t=-5.321, P<0.001), respectively. Conclusion:The scoring system constructed through the"Quality Control Rating Table of Checkup Summary Report"is scientific, reasonable and practical, which can effectively improve the quality of the main examination report and has strong operability.
7.Performance analysis of the double-check standard process for ultrasound reports in health examinations
Zhuqing JIA ; Jingfeng CHEN ; Qian QIN ; Suying DING
Chinese Journal of Health Management 2025;19(6):452-456
Objective:To explore the application effect of double-check standard process for ultrasound reports in health examinations.Method:A historical control study design was used in this study. A total of 11 909 health examination ultrasound reports from the Health Center of the First Affiliated Hospital of Zhengzhou University from February to April in 2021 were selected by systematic sampling method, the double-check standard process was adopted in those reports. The existing problems were categorized, organized and analyzed, and relevant measures for continuous quality improvement were formulated. Then, 13 939 and 15 833 health examination ultrasound reports from February to April in 2022 and 2023 respectively were selected for effect analysis.Results:Compared with those in February to April in 2021, the overall (double-check), initial check and secondary check ultrasound report accuracy rates in February to April in 2023 increased by 5.73%, 3.07% and 1.99%, respectively ( χ2=132.58, 46.80, 127.44, all P<0.001). In terms of trend changes, from February to April 2021 to February to April 2023, the error rates of the following five issues all showed a declining trend: misspellings, inconsistencies between descriptions and conclusion, need for doctor′s signature on the report, missing images, and errors in thyroid/breast color Doppler grading ( χ2=98.93, 30.13/14.59, 3.98, 14.6, all P<0.05). The error rate of ultrasound reports after continuous quality improvement was significantly lower than before. Conclusion:The double-check standard process for ultrasound reports in health examinations can effectively improve the quality of health examination ultrasound reports.
8.A cohort study of the correlation between triglyceride-glucose index variability and new-onset hyperuricemia
Qiuyue JIA ; Jingfeng CHEN ; Youxiang WANG ; Lin WANG ; Suying DING
Chinese Journal of Endocrinology and Metabolism 2025;41(2):99-105
Objective:To evaluate the association between triglyceride-glucose(TyG) index level, their variability, and the risk of incident hyperuricemia(HUA).Methods:A total of 1 583 cases with good compliance who underwent follow-up at the health examination center of a tertiary hospital physical in Zhengzhou were enrolled. The TyG index mean(TyG-mean) and variability indexes, including standard deviation(TyG-SD), coefficient of variation(TyG-CV), and adjusted standard deviation(adj-TyG-SD), were calculated based on TyG index values from three consecutive annual health check-ups. Cox proportional risk regression model was used to assess the relationship between the variability of TyG index and the risk of new-onset HUA; the dose-response relationship between different TyG indexes and HUA was examined using restricted cubic spline(RCS). Results:After a 3-year follow-up, 146 participants developed incident HUA. Both TyG-mean and TyG index variability indicators were significantly higher in the HUA group compared to the non-HUA group( P<0.05). After adjusting for multiple confounders, each standard deviation σincrease in TyG-SD, TyG-CV, and adj-TyG-SD was associated with a 1.23-fold(95% CI 1.06-1.43), 1.22-fold(95% CI 1.05-1.42), and 1.26-fold(95% CI 1.08-1.45) higher risk of incident HUA, respectively. RCS analysis revealed a nonlinear association between adj-TyG-SD and HUA risk( P<0.05), with a critical threshold of 0.55 at a hazard ratio( HR) of 1. Conclusions:Increased TyG index variability is associated with a higher risk of incident HUA, with adj-TyG-SD showing the strongest correlation with HUA risk.
9.Analysis of Labeling Situation of Drug Instructions for Drug Dose Adjustment in Hemodialysis Patients with End-Stage Renal Disease
Siyan LI ; Jianghua SHEN ; Yan ZENG ; Yujie QIU ; Chen SHAO ; Suying YAN
Herald of Medicine 2025;44(3):491-496
Objective To investigate the labeling of dialysis-related information in the instructions of drugs for systemic use in patients with end-stage renal disease undergoing hemodialysis,and to provide reference for further standardization and im-provement of drug instructions.Methods Collected the information on pharmacokinetics and drug dose adjustment in hemodi-alysis patients with end-stage renal disease from the instructions of chemicals and biologics used systemically in XuanWu hospital's formulary from January to March 2023.Classified and compared the labeling rates of the corresponding information of the originally developed drugs and generic drugs,imported drugs and domestic drugs;Drugs eliminated by non-renal route,or with mo-lecular weight≥5 000,or binding rate of plasma protein ≥ 60%,or drug distribution volume>360L were classified as"non-dialysis group",and other drugs were classified as"dialysis group",compared the labeling rate of corresponding information of drugs in"dialysis group"and"non-dialysis group";and compared the labeling rate and content with relevant information in Lexicomp and Micromedex.Results Among the 930 drug instructions,the labeling rates of drug dialysis clearance,drug adjustment,and ex-plicit drug adjustment plan were 16.67%,25.16%,and 24.52%.There was no significant difference in the labeling rate of dialysis-related information between original and generic drugs,and imported and domestic drugs.There was a significant difference in the labeling rate of dialysis-related information between the"dialyzable group"and the"non-dialyzable group"(P<0.01).The differ-ence in the labeling rate of dialysis related information between the investigated drug instructions and the corresponding drugs in Lexicomp or Micromedex was statistically significant(P<0.01).Conclusion Attention should be paid to the lack of informa-tion and unclear labeling of hemodialysis patients with end-stage renal disease in the drug instructions by relevant departments.
10.SMARCB1-deficient renal medullary carcinoma without sickle cell trait: clinicopathological and molecular characteristics
Huizhi ZHANG ; Jun HOU ; Xiaoqun YANG ; Qiuyuan XIA ; Suying WANG ; Yifen ZHANG ; Hong CHEN ; Xiaohui DING ; Heli WANG ; Ming ZHAO
Chinese Journal of Pathology 2025;54(8):838-844
Objective:To investigate the clinicopathological features including immunophenotype, molecular characteristics, differential diagnosis and prognosis of SMARCB1-deficient renal medullary carcinoma (RMC) without sickle cell trait.Methods:The clinicopathological data of 12 cases of SMARCB1-deficient RMC without sickle cell trait were collected from 7 domestic institutions during the period of 2015 to 2024. Their clinical characteristics, morphological features and immunohistochemical properties were observed and analyzed. High-throughput DNA-targeted next-generation sequencing was performed, and follow-up data were gathered along with relevant literature review.Results:Among the 12 patients, 5 were female and 7 were male. The patients age ranged from 27 to 84 years with a median age of 58.5 (46.0, 71.0) years. None of them had sickle cell disease or other hemoglobinopathies. Eight cases occurred in the left kidney and 4 cases were located in the right kidney. The average maximum diameter of the tumor was 6.1 (4.0,7.5) cm, with a range of 2.0 to 14.9 cm (the median maximum diameter 5.5 cm). Histologically, the tumors showed poorly differentiated adenocarcinoma, arranged in solid and tubular patterns. Papillary structure was noted in 5 cases, cribriform structure in 3 cases, rhabdoid differentiation in 3 cases, and sarcomatoid differentiation in 2 cases. Inflammatory desmoplastic stromal reaction was observed in 8 cases, among which stromal myxoid degeneration was seen in 6 cases. Tumor necrosis was apparent in 6 cases. The tumor cells had abundant eosinophilic or clear cytoplasm and prominent nucleoli. The nuclear grading was grade 3 or 4 according to the International Society of Urological Pathology (ISUP). Immunohistochemical staining showed that the tumor cells of all 12 cases expressed PAX8 and loss of SMARCB1/INI1 protein expression, and 5 of 10 cases expressed OCT3/4. Seven samples had valid archived paraffin tissues for high-throughput DNA-targeted next-generation sequencing. The results showed that all 7 cases had pathogenic mutations in the SMARCB1 gene. The mutation sites included exon5 c.595A>T (p.K199*), exon2 c.200_207del (p.S67*), exon2 p.G69VfsTer16, exon7 c.986G>T (p.S329I), exon7 c.886A>T (p.K296*), exon6 c.635T>A (p.L212*), exon5 c.577del (p.M193Wfs16), and exon6 c.784del (p.V262Sfs5). Follow-up data were obtained for 6 of 12 patients. Among them, 1 patient had lung and bone metastases, 1 patient had liver and bone metastases and 1 patient had multiple bone metastases at the time of diagnosis; 1 patient had bone metastases 5 months after surgery. One patient died of postoperative complications 10 days after surgery, 4 patients died of tumors (the survival time ranged from 4 to 8 months), and 1 patient had no recurrence or metastasis during the 8-month follow-up after surgery.Conclusions:SMARCB1-deficient RMC without sickle cell trait is a highly aggressive and poorly differentiated renal cell carcinoma. It has similar histomorphology, immunophenotype, molecular characteristics and prognosis to RMC, which further supports that it is a sporadic subtype of RMC related to sickle cell trait.

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