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.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.
3.Prediction Model for Unfavorable Outcome in Spontaneous Intracerebral Hemorrhage Based on Machine Learning
Shengli LI ; Jianan ZHANG ; Xiaoqun HOU ; Yongyi WANG ; Tong LI ; Zhiming XU ; Feng CHEN ; Yong ZHOU ; Weimin WANG ; Mingxing LIU
Journal of Korean Neurosurgical Society 2024;67(1):94-102
Objective:
: The spontaneous intracerebral hemorrhage (ICH) remains a significant cause of mortality and morbidity throughout the world. The purpose of this retrospective study is to develop multiple models for predicting ICH outcomes using machine learning (ML).
Methods:
: Between January 2014 and October 2021, we included ICH patients identified by computed tomography or magnetic resonance imaging and treated with surgery. At the 6-month check-up, outcomes were assessed using the modified Rankin Scale. In this study, four ML models, including Support Vector Machine (SVM), Decision Tree C5.0, Artificial Neural Network, Logistic Regression were used to build ICH prediction models. In order to evaluate the reliability and the ML models, we calculated the area under the receiver operating characteristic curve (AUC), specificity, sensitivity, accuracy, positive likelihood ratio (PLR), negative likelihood ratio (NLR), diagnostic odds ratio (DOR).
Results:
: We identified 71 patients who had favorable outcomes and 156 who had unfavorable outcomes. The results showed that the SVM model achieved the best comprehensive prediction efficiency. For the SVM model, the AUC, accuracy, specificity, sensitivity, PLR, NLR, and DOR were 0.91, 0.92, 0.92, 0.93, 11.63, 0.076, and 153.03, respectively. For the SVM model, we found the importance value of time to operating room (TOR) was higher significantly than other variables.
Conclusion
: The analysis of clinical reliability showed that the SVM model achieved the best comprehensive prediction efficiency and the importance value of TOR was higher significantly than other variables.
4.Research progress on training and certification of extracorporeal membrane oxygenation nurses and their job competencies
Liwei HONG ; Chunyi HOU ; Lihua CHEN ; Xiaoqun HUANG ; Weijuan LIU
Chinese Journal of Modern Nursing 2022;28(27):3815-3819
This paper reviews the research status of the training and certification of extracorporeal membrane oxygenation nurses at home and abroad and their job competencies, and analyzes its limitations, so as to provide a reference for the training of extracorporeal membrane oxygenation nurses in my country.
5.Application of enhanced recovery after surgery-based multidisciplinary cooperation model in reducing preoperative fasting time of reception surgery
Jing LIU ; Xiuna QU ; Pengpeng JIANG ; Xiaoqun HOU ; Haijing DONG ; Jing CHEN ; Yufang HAN
Chinese Journal of Practical Nursing 2021;37(7):499-504
Objective:To explore the effect of enhanced recovery after surgery(ERAS)-based multidisciplinary collaboration model on shortening the time of forbidden eating before receiving surgery, provide the basis for the selection of the preoperative diet prohibition scheme.Methods:From January 2017 to February 2019, a total of 384 patients who received the operation in Qingdao Municipal Hospital were analyzed retrospectively. The patients who under the traditional preoperative diet prohibition scheme were taken as the control group(156 cases) while those who under the multidisciplinary cooperation mode nursing under the concept of eras were taken as the experimental group(228 cases). The experimental group formulated the perioperative diet prohibition process according to the guidelines of eras, and the experimental group carried out the perioperative diet management for the patients according to the procedure. The difference between the two groups in the time of fasting, hunger, thirst incidence, insulin resistance, temporary stop will be observed and compared.Results:The time of fasting was (4.01±1.55) h in the experimental group and (10.12±1.57) h in the control group,there was significant difference between the two groups( t value was -1.65, P < 0.01). The incidences of thirst,hunger were 13.2%(30/228), 11.8%(27/228) in the experimental group and 89.7%(140/156), 87.2%(136/156) in the control group, there were significant differences between the two groups(χ 2 values were 220.20, 215.20, P < 0.01). The levels of insulin resistance on the first and third day after operation were 1.85 ± 0.43,1.52±0.61 in the experimental group and 1.99±0.51, 1.67±0.49 in the control group, the differences were statistically significant ( t values were -2.90, -2.56, P < 0.05).The temporary stop rate was 1.75%(4/228) in the experimental group and 7.69%(12/156) in the control group, the difference was statistically significant( χ2 value was 8.19, P<0.01). Conclusions:The ERAS-based multidisciplinary collaboration model can effectively shorten the preoperative fasting time, reduce the level of insulin resistance, reduce the incidence of hunger and thirst, and improve the rate of temporary stop and adjustment.
6. Effect of recombinant human prourokinase on P-selectin in patients with acute myocardial infarction without reflux
Shuo LU ; Xiaoqun ZHENG ; Fengxia HOU
Chinese Journal of Postgraduates of Medicine 2019;42(10):942-946
Objective:
To evaluate the effect of intracoronary injection of recombinant human urokinase on plasma P-selectin in AMI patients with no-reflow during acute PCI.
Methods:
Ninety-two patients with acute ST-segment elevation myocardial infarction or acute non-ST-segment elevation myocardial infarction admitted to Center Hospital of Changchun City in January 2017 and December 2018 were randomly divided into two groups: 47 patients with intracoronary injection of sodium nitroprusside as control group and 45 patients with intracoronary injection of recombinant human urokinase as treatment group. Among them, 58 were males and 36 were females. The onset time was less than 12 h. The basic data, serum P-selectin, myocardial perfusion index and major adverse cardiovascular events were compared between the two groups.
Results:
In the treatment group, the corrected TIMI frame number, instant TIMI grade 3 blood flow, myocardial chromogenic grade 3 blood flow, myocardial necrosis marker CTnI, serum P-selectin were significantly lower than those in the control group: 31.26 ± 4.58 vs. 35.15 ± 6.25, 71.1%(32/45) vs. 51.1%(24/47), 64.4%(29/45) vs. 55.3%(26/47), (28.46 ± 3.95) ng/ml vs. (30.18 ± 3.47) ng/ml, (13.26 ± 4.58) ng/ml vs. (15.04 ± 3.98) ng/ml, and EF function was better. In the control group. The incidence of major adverse cardiac events in the treatment group was lower than that in the control group within one month after operation, but there was no statistical significance.
Conclusions
There is no reflux in patients with AMI during PCI. Intracoronary injection of recombinant human urokinase can improve myocardial perfusion without reflux and has no effect on fibrinolytic system in vivo. It does not increase the risk of systemic hemorrhage and the incidence of serious adverse cardiovascular events.
7. Application value of drug-coated balloon in interventional therapy of situ coronary artery lesions in patients with acute coronary syndrome and its effect on thrombus precursor protein
Shuo LU ; Fengxia HOU ; Xiaoqun ZHENG
Chinese Journal of Postgraduates of Medicine 2019;42(11):970-973
Objective:
To evaluate the efficacy and safety of intravascular ultrasound guidance drug-coated balloon (DCB) in percutaneous coronary intervention (PCI) of situ coronary artery lesions in patients with acute coronary syndrome (ACS), and its effect on thrombus precursor protein (TpP).
Methods:
Seventy-eight patients with ACS in Central Hospital of Changchun City from January 2015 to January 2019 were selected, including 46 cases with unstable angina pectoris and 32 cases with acute non-ST-segment elevation myocardial infarction. The patients were divided into DCB group (38 cases) and drug-eluting stent (DES) group (40 cases) by random digits table method. Intravascular ultrasound was used to guide PCI in both groups, and DCB and DES were used respectively. Coronary angiography was performed immediately and 6 months after PCI in both groups. Minimum lumen diameter (MLD) was measured by QCA system, and the lumen loss (LLL) was calculated at 6 months after PCI. Plasma TpP before PCI, 1 and 6 months after PCI was measured by enzyme-linked immunosorbent assay (ELISA). Major adverse cardiovascular events (MACE) including cardiac death, myocardial infarction and target lesion revascularization (TLR) were followed up 1, 3, 6 and 12 months after PCI.
Results:
Immediately after PCI, there was no statistical difference in MLD between DCB group and DES group: (1.87 ± 0.23) mm vs. (2.16 ± 0.15) mm,
8.Effect of Hospital - community Integration Follow - up on Medication Compliance in Patients with Mental Disorder
Jie YANG ; Tianxun SU ; Xiufeng YAO ; Jiesheng HOU ; Yanfei HE ; Binbin ZHAO ; Yan LIANG ; Xiaoqun LUO
Modern Hospital 2018;18(5):684-687
Objective To explore the effect of hospital-community integration follow-up pattern on medication compliance in patients with mental disorder. Methods From January 2016 to January 2017, 96 patients were treated effectively with systemic therapy in psychosomatic department and TCM WM department, and 96 discharged mental disorder patients were treated with brief psychiatric rating scale (BPRS) ≤ 28. The patients were randomly divided into 48 cases in the intervention group and the control group; both groups were standardized medication; control group received an outpatient referral, intervention group combined with medical doctors in our hospital and community doctors for one year follow-up intervention. Observed the condition of illness and medication compliance after six months and one year intervention between two groups, compared the patient recurrence rate of one year after discharge. Results BPRS score of intervention group was significantly lower than control group (P<0. 01), the difference was statistically significant, while intervention group had higher compliance than control group (P<0. 01), and the difference was statistically significant. Recurrence rate (20. 83%) of intervention group was significantly lower than control group (38. 78%) ( 2 = 4. 03, P<0. 05), the difference was statistically significant. Conclusion Hospital-community integration follow-up has positive effect on stabilizing patients with mental disorder and improving compliance and decreasing relapse rate.
9.Serum Levels of Some Cytokines and Their Correlation with Disease Severity in Pemphigus
Xiaoqun LUO ; Wei SU ; Aiqin HOU ; Mengwu WENG
Chinese Journal of Dermatology 1994;0(06):-
Objective To study serum levels of interleukin-4,10,interferon-g amma,tumor necrosis factor alpha and soluble interleukin-2 receptor in patients with pemphigus, and their correlation with disease severity. Methods Serum leve ls of different cytokines were determined by double antibody sandwich enzyme-li nked immunosorbent assay in 31 patients with pemphigus in acute and remission st ages, and in 15 normal controls. Serum autoantibody titer was determined by indi rect immunofluorescent assay (IIF). The severity of disease was recorded by the Rule of Nine for the calculation of burn surface area. Results IL-10 level was lower in the sera of patients in their acute stage than that of controls(P0.05). Conclusion There are abnormalities of serum levels of cytokine s in patients with pemphigus. Serum levels of IL-10, sIL-2R and IFN-?are cor related with the severity of the disease.

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