1.Clinical features of hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cell carcinoma: a multi-center real-world retrospective study
Yunze XU ; Wen KONG ; Ming CAO ; Guangxi SUN ; Jinge ZHAO ; Songyang LIU ; Zhiling ZHANG ; Liru HE ; Xiaoqun YANG ; Haizhou ZHANG ; Lieyu XU ; Yanfei YU ; Hang WANG ; Honggang QI ; Tianyuan XU ; Bo YANG ; Yichu YUAN ; Dongning CHEN ; Dengqiang LIN ; Fangjian ZHOU ; Qiang WEI ; Wei XUE ; Xin MA ; Pei DONG ; Hao ZENG ; Jin ZHANG
Chinese Journal of Urology 2024;45(3):161-167
Objective:To investigate the clinical features and therapeutic efficacy of patients with hereditary leiomyomatosis and renal cell carcinoma(RCC) syndrome-associated RCC (HLRCC-RCC) in China.Methods:The clinical data of 119 HLRCC-RCC patients with fumarate hydratase (FH) germline mutation confirmed by genetic diagnosis from 15 medical centers nationwide from January 2008 to December 2021 were retrospectively analyzed. Among them, 73 were male and 46 were female. The median age was 38(13, 74) years. The median tumor diameter was 6.5 (1.0, 20.5) cm. There were 38 cases (31.9%) in stage Ⅰ-Ⅱand 81 cases (68.1%) in stage Ⅲ-Ⅳ. In this group, only 11 of 119 HLRCC-RCC patients presented with skin smooth muscle tumors, and 44 of 46 female HLRCC-RCC patients had a history of uterine fibroids. The pathological characteristics, treatment methods, prognosis and survival of the patients were summarized.Results:A total of 86 patients underwent surgical treatment, including 70 cases of radical nephrectomy, 5 cases of partial nephrectomy, and 11 cases of reductive nephrectomy. The other 33 patients with newly diagnosed metastasis underwent renal puncture biopsy. The results of genetic testing showed that 94 patients had FH gene point mutation, 18 had FH gene insertion/deletion mutation, 4 had FH gene splicing mutation, 2 had FH gene large fragment deletion and 1 had FH gene copy number mutation. Immunohistochemical staining showed strong 2-succinocysteine (2-SC) positive and FH negative in 113 patients. A total of 102 patients received systematic treatment, including 44 newly diagnosed patients with metastasis and 58 patients with postoperative metastasis. Among them, 33 patients were treated with tyrosine kinase inhibitor (TKI) combined with immune checkpoint inhibitor (ICI), 8 patients were treated with bevacizumab combined with erlotinib, and 61 patients were treated with TKI monotherapy. Survival analysis showed that the median progression-free survival (PFS) of TKI combined with ICI was 18 (5, 38) months, and the median overall survival (OS) was not reached. The median PFS and OS were 12 (5, 14) months and 30 (10, 32) months in the bevacizumab combined with erlotinib treatment group, respectively. The median PFS and OS were 10 (3, 64) months and 44 (10, 74) months in the TKI monotherapy group, respectively. PFS ( P=0.009) and OS ( P=0.006) in TKI combined with ICI group were better than those in bevacizumab combined with erlotinib group. The median PFS ( P=0.003) and median OS ( P=0.028) in TKI combined with ICI group were better than those in TKI monotherapy group. Conclusions:HLRCC-RCC is rare but has a high degree of malignancy, poor prognosis and familial genetic characteristics. Immunohistochemical staining with strong positive 2-SC and negative FH can provide an important basis for clinical diagnosis. Genetic detection of FH gene germ line mutation can confirm the diagnosis. The preliminary study results confirmed that TKI combined with ICI had a good clinical effect, but it needs to be confirmed by the results of a large sample multi-center randomized controlled clinical study.
2.Comparison of robot-assisted and free-hand percutaneous cannulated screwing for femoral neck fractures in the middle-aged and young patients
Fuming HUANG ; Xinzhe ZHANG ; Weixiong LI ; Rui CHEN ; Kaijun LIANG ; Haiqiao XU ; Haizhou HUANG ; Jihui ZHOU ; Shibang LIN
Chinese Journal of Orthopaedic Trauma 2023;25(11):979-985
Objective:To compare the clinical efficacy between robot-assisted and free-hand percutaneous cannulated screwing (PCS) in the treatment of femoral neck fractures in the middle-aged and young patients.Methods:A retrospective study was conducted to analyze the clinical data of 53 patients with femoral neck fracture who had been treated with PCS from May 2020 to May 2022 at Department of Traumatic Surgery, Maoming Hospital Affiliated to Southern Medical University. In the robot group of 25 patients subjected to robot-assisted PCS, there were 11 males and 14 females with an age of (48.2 ± 11.9) years; in the free-hand group of 28 patients subjected to free-hand PCS, there were 13 males and 15 females with an age of (48.5 ± 9.8) years. The 2 groups were compared in terms of operation time, intraoperative bleeding, intraoperative guide drills, intraoperative fluoroscopy frequency, fracture union time, Harris hip score at the last follow-up and postoperative complications. Postoperative imaging examination was performed to evaluate distribution accuracy of the cannulated screws in the femoral neck (deviation between the screws and the femoral neck axis, parallelism between the screws and distance between the screws and the neck cortex).Results:There was no statistically significant difference between the robot and free-hand groups in the general clinical data before operation, showing comparability ( P>0.05). The robot group showed significantly shorter operation time [(32.7 ± 4.8) min], significantly less intraoperative bleeding [(14.6 ± 4.8) mL], significantly less intraoperative guide drillings [(3.5 ± 0.7) times] and significantly less intraoperative fluoroscopy frequency [(7.9 ± 1.4) times] than the free-hand group [(56.9 ± 11.3) min, (27.0 ± 7.3) mL, (9.1 ± 1.8) times and (16.3 ± 6.0) times)] (all P<0.05). Postoperative imaging showed that the deviation between the screws and the femoral neck axis was 4.4° ± 1.1° on the anteroposterior X-ray film and 3.2° ± 0.8° on the lateral X-ray film, the parallelism between the screws 4.9° ± 0.8° on the anteroposterior X-ray film and 3.0° ± 0.7° on the lateral X-ray film, and the distance between the screws and the femoral neck cortex (10.4 ± 2.7) mm in the robot group, all significantly smaller than those in the free-hand group [10.5° ± 2.8°, 4.9° ± 1.1°, 12.1° ± 4.0°, 5.1° ± 1.3°, and (15.4 ± 3.2) mm] (all P<0.05). All the 53 patients were followed up for (22.2 ± 8.5) months. All fractures got united. The fracture union time in the robot group [(20.6 ± 4.6) weeks] was insignificantly shorter than that in the free-hand group [(23.7 ± 7.7) weeks] ( P>0.05). At the last follow-up, the Harris hip score in the robot group [(88.6 ± 5.6) points] was significantly higher than that in the free-hand group [(84.8 ± 6.3) points] ( P<0.05). Follow-ups revealed 2 cases of internal fixation loosening, 1 case of screw head cutting and 1 case of femoral head necrosis in the free-hand group but none of such complications in the robot group. Conclusion:In the treatment of femoral neck fractures in the middle-aged and young patients, compared with free-hand PCS, robot-assisted PCS shows advantages of shorter intraoperative time, less bleeding, less fluoroscopic radiation, higher accuracy of screw placement, a lower incidence of postoperative complications and better functional recovery of the hip joint.
3.Production mechanism,clinical research and application of tumor related autoantibodies
Chinese Journal of Laboratory Medicine 2023;46(11):1123-1127
Tumor-associated autoantibodies (TAAS), as cancer biomarkers, have attracted special attention. In recent years, increasing evidence has indicated that TAAS shows an elevated level in the early stage of human malignancies, and examination of TAAS in patients′ clinical specimens has a good predictive value for a variety of cancers′ early diagnosis. The mechanism of TAAS and its clinical application will be introduced, and the advantages and problems of tumor autoantibodies as markers will be expounded in this article.
4.dbDEMC 3.0:Functional Exploration of Differentially Expressed miRNAs in Cancers of Human and Model Organisms
Xu FENG ; Wang YIFAN ; Ling YUNCHAO ; Zhou CHENFEN ; Wang HAIZHOU ; E.Teschendorff ANDREW ; Zhao YI ; Zhao HAITAO ; He YUNGANG ; Zhang GUOQING ; Yang ZHEN
Genomics, Proteomics & Bioinformatics 2022;20(3):446-454
MicroRNAs(miRNAs)are important regulators in gene expression.The dysregulation of miRNA expression is widely reported in the transformation from physiological to pathological states of cells.A large number of differentially expressed miRNAs(DEMs)have been identified in various human cancers by using high-throughput technologies,such as microarray and miRNA-seq.Through mining of published studies with high-throughput experiment information,the data-base of DEMs in human cancers(dbDEMC)was constructed with the aim of providing a systematic resource for the storage and query of the DEMs.Here we report an update of the dbDEMC to version 3.0,which contains two-fold more data entries than the second version and now includes also data from mice and rats.The dbDEMC 3.0 contains 3268 unique DEMs in 40 different cancer types.The current datasets for differential expression analysis have expanded to 9 generalized cat-egories.Moreover,the current release integrates functional annotations of DEMs obtained by using experimentally validated targets.The annotations can be of great benefit to the intensive analysis of the roles of DEMs in cancer.In summary,dbDEMC 3.0 provides a valuable resource for charac-terizing molecular functions and regulatory mechanisms of DEMs in human cancers.
5.Ubiquitinome Profiling Reveals the Landscape of Ubiquitination Regulation in Rice Young Panicles.
Liya ZHU ; Han CHENG ; Guoqing PENG ; Shuansuo WANG ; Zhiguo ZHANG ; Erdong NI ; Xiangdong FU ; Chuxiong ZHUANG ; Zexian LIU ; Hai ZHOU
Genomics, Proteomics & Bioinformatics 2020;18(3):305-320
Ubiquitination, an essential post-transcriptional modification (PTM), plays a vital role in nearly every biological process, including development and growth. Despite its functions in plant reproductive development, its targets in rice panicles remain unclear. In this study, we used proteome-wide profiling of lysine ubiquitination in rice (O. sativa ssp. indica) young panicles. We created the largest ubiquitinome dataset in rice to date, identifying 1638 lysine ubiquitination sites on 916 unique proteins. We detected three conserved ubiquitination motifs, noting that acidic glutamic acid (E) and aspartic acid (D) were most frequently present around ubiquitinated lysine. Enrichment analysis of Gene Ontology (GO) annotations and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways of these ubiquitinated proteins revealed that ubiquitination plays an important role in fundamental cellular processes in rice young panicles. Interestingly, enrichment analysis of protein domains indicated that ubiquitination was enriched on a variety of receptor-like kinases and cytoplasmic tyrosine and serine-threonine kinases. Furthermore, we analyzed the crosstalk between ubiquitination, acetylation, and succinylation, and constructed a potential protein interaction network within our rice ubiquitinome. Moreover, we identified ubiquitinated proteins related to pollen and grain development, indicating that ubiquitination may play a critical role in the physiological functions in young panicles. Taken together, we reported the most comprehensive lysine ubiquitinome in rice so far, and used it to reveal the functional role of lysine ubiquitination in rice young panicles.
Acetylation
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Lysine/metabolism*
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Oryza/metabolism*
;
Plant Proteins/metabolism*
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Protein Interaction Maps
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Protein Processing, Post-Translational
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Proteome/metabolism*
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Ubiquitin/metabolism*
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Ubiquitination
6. Value of complement system in the diagnosis of systemic lupus erythematosus
Chinese Journal of Laboratory Medicine 2019;42(12):1002-1006
The complement system plays a major role in systemic lupus erythematosus (SLE). At present, complement component 3(C3) and component 4(C4) are the diagnostic markers in the internationally recognized standard of SLE classification. Complement C3 and C4 can play a role in the diagnosis of SLE patients, but they are not very specific diagnostic markers. Therefore, it is important to find more better biomarkers of SLE. In this review, the latest findings in complement-focused research in SLE were explored. Complement level, cell-bound complement activation products and membrane-bound complement regulatory proteins are associated with the pathogenesis of SLE. They may become SLE biomarkers and aid the diagnosis and monitoring of patients with this disease.
7.Effect of acute super volume blood dilution on cardiac output and blood coagulation function in the senile patients
Haizhou ZHOU ; Qianjie HUANG ; Hui JIANG
Journal of Clinical Medicine in Practice 2017;21(3):123-124,132
Objective To investigate the effect of acute super volume blood dilution on cardiac output and blood coagulation function in senile patients.Methods Sixty patients with large joint operation were randomly divided into experimental group and control group,30 cases in each group.The experimental group was given 6% hydroxyethyl starch and lactated Ringer's solution 15 mL/kg for AHH,while the control group was given routine infusion.Cardiac output and blood coagulation were compared between two groups.Results In the experimental group,cardiac output (CO) increased and blood coagulation function decreased after AHH (P > 0.05).There were no significant differences in hematocrit (HCT),prothrombin time (PT),activated partial prothrombin time (APTT) and plasma fibrinogen (Fib) ateach time point between two groups (P > 0.05).Conclusion Acute super volume blood dilution has small influence on cardiac output andblood coagulation function in senile patients.
8.Effect of acute super volume blood dilution on cardiac output and blood coagulation function in the senile patients
Haizhou ZHOU ; Qianjie HUANG ; Hui JIANG
Journal of Clinical Medicine in Practice 2017;21(3):123-124,132
Objective To investigate the effect of acute super volume blood dilution on cardiac output and blood coagulation function in senile patients.Methods Sixty patients with large joint operation were randomly divided into experimental group and control group,30 cases in each group.The experimental group was given 6% hydroxyethyl starch and lactated Ringer's solution 15 mL/kg for AHH,while the control group was given routine infusion.Cardiac output and blood coagulation were compared between two groups.Results In the experimental group,cardiac output (CO) increased and blood coagulation function decreased after AHH (P > 0.05).There were no significant differences in hematocrit (HCT),prothrombin time (PT),activated partial prothrombin time (APTT) and plasma fibrinogen (Fib) ateach time point between two groups (P > 0.05).Conclusion Acute super volume blood dilution has small influence on cardiac output andblood coagulation function in senile patients.
9.Comparison of proximal femoral nail antirotation and proximal femoral nail antirotation-Ⅱ in treatment of femur intertrochanteric fracture
Haizhou WANG ; Jun LIU ; Qianwei HE ; Shenglong ZHOU ; Li WEI ; Xingli CHEN
Chinese Journal of Orthopaedic Trauma 2016;18(5):435-438
Objective To compare the clinical effects of proximal femoral nail antirotation (PFNA) and proximal femoral nail antirotation-Ⅱ (PFNA-Ⅱ) in the internal fixation of femoral intertrochanteric fracture.Methods A retrospective study was conducted of the 54 patients with femoral intertrochanteric fracture who had been treated at our department from May 2009 through July 2014.During May 2009 and November 2011,27 of them were treated with PFNA;during December 2011 and July 2014,the other 27 of them were treated with PFNA-Ⅱ.The 2 groups were compared in terms of operation time,intraoperative blood loss volume,hidden blood loss volume,intraoperative and postoperative complications,fracture healing time and Harris hip score at the last follow-up.Results In the PFNA group,27 patients were followed up for an average time of 22.6 ± 4.8 months.In the PFNA-Ⅱ group,27 patients were followed up for an average time of 19.5 ± 4.6 months.The PFNA group had significantly more intraoperative blood loss volume (130.1 ± 74.3 mL),and significantly higher rates of intraoperative lateral wall fracture of the proximal femur (18.5%,5/27),postoperative lateral thigh soft tissue irritation (22.2%,6/27) and postoperative thigh pain (22.2%,6/27) than the PFNA-Ⅱ group [46.3 ± 23.1 mL,0,3.7% (1/27),3.7% (1/27),respectively] (P < 0.05).There were no significant differences between the 2 groups in operation time,hidden blood loss,postoperative complications of internal diseases,fracture healing time,or Harris hip score of last follow-up (P > 0.05).Conclusion Compared with PFNA,PFNA-Ⅱ may lead to a smaller volume of intraoperative blood loss and a lower incidence of complications related to internal fixation.
10.Expression and prognostic value of ING4 and HIF-1α in rectal cancer tissue
Haizhou ZHAO ; Yueping NIU ; Xiaoyi REN ; Yingfa ZHOU
The Journal of Practical Medicine 2014;(3):389-392
Objective To explore the inhibitor of growth family member 4 (ING4) and hypoxia inducible factor-1α(HIF-1α)expression in colorectal cancer and the prognostic significance. Methods Immunohistochemistry was used to detect the ING4 and HIF-1α expression in 133 cases of colorectal cancer tissues and 76 cases of normal rectal tissues. Survival analysis was performed on the following data. Results ING4 in colorectal cancer tissues with positive rate (53.4%) was significantly lower than normal rectal tissue (85.5%) and the difference was statistically significant (P < 0.01); HIF-1α in colorectal cancer tissues with positive rate (69.9%) is higher than normal rectal tissue (42.1%), and the difference was statistically significant (P < 0.01); ING4 and HIF-1αexpression was related with tumor differentiation, Dukes stage and lymph node metastasis (P < 0.05); colorectal cancer tissues ING4 and HIF-1α expression was negatively correlated (r = -0.317, P < 0.001); By multivariate analysis, tumor differentiation, Dukes stage, lymph node metastasis, ING4 expression of HIF-1α expression has independent prognostic significance. Conclusion ING4 and HIF-1α may be involved in the occurrence and development of colorectal cancer , and combined detection could help determine the prognosis of colorectal cancer.

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