1.Prognostic Significance of KMT2D Gene Mutation and Its Co-mutated Genes in Patients with Diffuse Large B-Cell Lymphoma
Mutibaier·MIJITI ; Xiaolong QI ; Renaguli·ABULAITI ; Wenxin TIAN ; Sha LIU ; Weiyuan MA ; Zengsheng WANG ; Li AN ; Min MAO ; Muhebaier·ABUDUER ; Yan LI
Cancer Research on Prevention and Treatment 2025;52(2):127-132
Objective To explore the clinical characteristics of patients with diffuse large B-cell lymphoma (DLBCL) accompanied with KMT2D gene mutation and the impact of its co-mutated genes on prognosis. Methods Clinical data of 155 newly diagnosed DLBCL patients were obtained. The second-generation sequencing method was used to detect 475 hotspot genes, including KMT2D mutation. Patients were divided into the KMT2D mutation group and KMT2D wild-type group based on the presence or absence of KMT2D gene mutation. Clinical characteristics, differences in co-mutated genes, and survival differences between the two groups were compared. Results The frequency of KMT2D mutation was 31%, which is predominantly observed in elderly patients (P=0.07) and less in the double-expressor phenotype (P=0.07). Compared with the KMT2D wild-type group, KMT2D gene mutation was associated with higher co-mutation rates of CDKN2A (OR=2.82, P=0.01) and BCL2 (OR=3.84, P=0.016), while being mutually exclusive with MYC gene mutation (OR=0.11, P=0.013). In univariate survival analysis, no statistically significant difference in overall survival (OS) was found between the KMT2D mutation group and the wild-type group (P=0.54). Further analysis of the prognostic significance of KMT2D with other gene mutations indicated that patients with KMT2DmutBTG2mut had poorer OS than those with KMT2Dwt BTG2mut (P=0.07) and KMT2Dwt BTG2wt (P=0.05). On the contrary, patients with KMT2Dmut CD79Bmut had better OS than those with KMT2Dmut CD79Bwt (P=0.09), with no prognostic impact observed for other co-mutated genes. Multivariate Cox regression analysis revealed that Ann Arbor stages Ⅲ and Ⅳ (HR=2.751, 95%CI: 1.169-6.472, P=0.02), elevated LDH levels (HR=2.461, 95%CI: 1.396-4.337, P=0.002), Ki-67 index>80% (HR=1.875, 95%CI: 1.066-3.299, P=0.029), and KMT2DmutBTG2mut(HR=4.566, 95%CI: 1.348-15.471, P=0.015) were independent risk factors for OS in patients with DLBCL (P<0.05). Conclusion DLBCL patients with KMT2D mutation often have multiple gene mutations, among which patients with a co-mutated BTG2 gene have poor prognosis.
2.Relationship between maternal and fetal ERAP-1 gene polymorphism and pre-eclampsia
Cui MA ; Xiaowei LIU ; Yuanyuan ZHENG ; Weiyuan ZHANG
Chinese Journal of Obstetrics and Gynecology 2024;59(6):434-439
Objective:To investigate the relationship between the polymorphism of endoplasmic reticulum aminopeptidase 1 (ERAP-1) gene and the occurrence of pre-eclampsia (PE).Methods:A case-control study was conducted in Beijing Obstetrics and Gynecology Hospital from October 2018 to October 2021. A total of 51 PE pregnant women with onset gestational age<34 weeks were selected as the PE group, and 48 normal pregnant women during the same period were selected as the control group. Venous blood samples were collected from the pregnant women before delivery and umbilical cord within 5 minutes after delivery. Single nucleotide polymorphisms (SNP) of ERAP-1 gene in the pregnant women and their fetus were detected by next-generation sequencing. Univariate analysis and multivariate logistic regression analysis were used to analyze all the SNP loci and alleles detected in the two groups, and the significant SNP were screened.Results:(1) A total of 13 target SNP loci of maternal ERAP-1 gene were selected by univariate analysis. Among them, the frequency distribution of genotypes at 96096828, 96121524, 96121715, 96122260 and 96122281 showed statistically significant differences between PE group and control group (all P<0.05). Multivariate logistic regression analysis showed that the risk of PE in pregnant women with TC genotype at locus 96121524 was 2.002 times higher than those with TT genotype (95% CI: 0.687-5.831, P=0.020). (2) A total of 4 target SNP loci of ERAP-1 gene in fetal were selected by univariate analysis, and there was no statistical significance in gene polymorphism of the 4 loci between PE group and control group (all P>0.05). Multivariate logistic regression analysis showed that the risk of PE in fetus with genotype AA at locus 96121406 was 0.236 times that of fetus with genotype GG (95% CI: 0.055-1.025, P=0.016). Conclusion:ERAP-1 gene with TC genotype at 96121524 in the mother and GG genotype at 96121406 in the fetus might be related to the incidence of PE.
3.Significance of detection of D-dimer and CEA before treatment in patients with colorectal cancer
Yaocheng SUN ; Jianjun TANG ; Weiyuan ZHANG ; Chuanlei LIU
China Modern Doctor 2024;62(34):29-33
Objective To explore the relationship between D-dimer and carcinoembryonic antigen (CEA) levels before treatment and clinicopathologic features of colorectal cancer and the value of prognosis. Methods A total of 209 patients who underwent radical colorectal cancer surgery in Wujin Hospital Affiliated of Jiangsu University from January 2017 to December 2018 were selected as the study objects. D-dimer and CEA levels were detected before treatment,and their relationship with clinicopathologic features and prognosis were analyzed. Results Before treatment,D-dimer was correlated with tumor site (P<0.001),pathological type (P=0.007),depth of invasion (P<0.001),lymph node metastasis (P=0.007) and tumor stage (P<0.001). CEA was associated with pathological type (P<0.001) and tumor stage (P=0.035). The postoperative tumor-free survival rate (x2=21.659,P<0.001) and overall survival rate (x2=22.887,P<0.001) in patients with both D-dimer and CEA positive expression before treatment were significantly lower than those in patients without both positive expression. The area under the curve for predicting overall survival of colorectal cancer patients with both D-dimer and CEA positive before treatment was 0.723. Pearson correlation analysis showed a positive correlation between D-dimer and CEA in colorectal cancer patients before treatment (r=0.144,P=0.037). Cox proportional risk regression analysis showed that simultaneous positive D-dimer and CEA,lymph node metastasis and distant metastasis were independent risk factors affecting postoperative tumor-free survival and overall survival of colorectal cancer patients (P<0.05). Conclusion D-dimer and CEA before treatment are of great value in the diagnosis and prognosis of colorectal cancer,and the combination of D-dimer and CEA has a definite effect on the accuracy of postoperative survival assessment of colorectal cancer.
4.Significance of detection of D-dimer and CEA before treatment in patients with colorectal cancer
Yaocheng SUN ; Jianjun TANG ; Weiyuan ZHANG ; Chuanlei LIU
China Modern Doctor 2024;62(34):29-33
Objective To explore the relationship between D-dimer and carcinoembryonic antigen (CEA) levels before treatment and clinicopathologic features of colorectal cancer and the value of prognosis. Methods A total of 209 patients who underwent radical colorectal cancer surgery in Wujin Hospital Affiliated of Jiangsu University from January 2017 to December 2018 were selected as the study objects. D-dimer and CEA levels were detected before treatment,and their relationship with clinicopathologic features and prognosis were analyzed. Results Before treatment,D-dimer was correlated with tumor site (P<0.001),pathological type (P=0.007),depth of invasion (P<0.001),lymph node metastasis (P=0.007) and tumor stage (P<0.001). CEA was associated with pathological type (P<0.001) and tumor stage (P=0.035). The postoperative tumor-free survival rate (x2=21.659,P<0.001) and overall survival rate (x2=22.887,P<0.001) in patients with both D-dimer and CEA positive expression before treatment were significantly lower than those in patients without both positive expression. The area under the curve for predicting overall survival of colorectal cancer patients with both D-dimer and CEA positive before treatment was 0.723. Pearson correlation analysis showed a positive correlation between D-dimer and CEA in colorectal cancer patients before treatment (r=0.144,P=0.037). Cox proportional risk regression analysis showed that simultaneous positive D-dimer and CEA,lymph node metastasis and distant metastasis were independent risk factors affecting postoperative tumor-free survival and overall survival of colorectal cancer patients (P<0.05). Conclusion D-dimer and CEA before treatment are of great value in the diagnosis and prognosis of colorectal cancer,and the combination of D-dimer and CEA has a definite effect on the accuracy of postoperative survival assessment of colorectal cancer.
5.Integration of innovation & entrepreneurship concept with the teaching practice of biochemistry experiment.
Fabao DONG ; Xiaohui LIU ; Zhihai YU ; Yali GU ; Lijuan ZHANG ; Weiyuan TANG
Chinese Journal of Biotechnology 2021;37(7):2581-2588
Biochemistry experiment is an experimental module associated with biochemistry curriculum. In the context of deepening the education reform on innovation & entrepreneurship, integrating the concept of innovation & entrepreneurship with the experimental course is an effective way for the biology discipline to foster professional talents with strong engineering ability and innovation & entrepreneurship ability. Outcome-based education (OBE) is a new concept for education. Guided by this concept, we encouraged students to propose and take part in research projects, redesigned the time frame for research project-based experiment teaching, and implemented a multi-dimensional evaluation system along the entire teaching process. Furthermore, we integrated the concept of innovation & entrepreneurship for training undergraduates during the teaching process of biochemistry experiment. These measures not only boosted the students' interest in research and innovation, but also guided the teachers to participate in the entire process, which helped improving the engineering ability and innovation & entrepreneurship ability of the students.
Biochemistry/education*
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Curriculum
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Entrepreneurship
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Humans
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Students
6. Application of Mohs microsurgery in nasal basal cell carcinoma
Weiyuan MA ; Wen LIU ; Xuezhong LI ; Ping YE ; Liqiang ZHANG ; Xiaolan CAI
Chinese Journal of Otorhinolaryngology Head and Neck Surgery 2018;53(6):440-443
Objective:
To discuss the application of Mohs microsurgery in nasal and facial basal cell carcinoma (BCC) and analyze the pathological and clinical features.
Methods:
The clinical data of 127 patients who were diagnosed by pathology as nasal and facial BCC in Qilu Hospital of Shandong University from January 2010 to January 2015 were retrospectively analysed. The value of Mohs microsurgery was discussed and the nasal & facial sites of BCC lesions, clinical and histopathology features were summarized.
Results:
The proportion of male and female was 1.27︰1 in 127 patients, the ages ranged from 27 to 91 years. The top three inflicted area in nasal and facial was followed by nasal dorsum, nasal root and upper lip.The most frequent clinical type was nodular ulcerative type.The most common pathological type was nodular and pigmented. Routine surgical resection was performed in 62 cases (48.8%) while Mohs micrographic surgery in 38 cases (29.9%). Follow-up duration was 37 months on average. Local recurrence occurred in 5 cases in routine surgical resection group while there was no recurrence in Mohs micrographic surgery group. There was no distant metastasis in all cases.
Conclusions
There are few specific clinical manifestation in nasal & facial BCC. Surgical treatment is prefered, especially by Mohs micrographic surgery, because it can strictly control the scope of surgical resection and obtain malformation repairment as well as beauty in nasal and facial region.
7.Associations of polymorphisms of cytochrome P450 enzymes (CYP2D6 and CYP2C9) with early-onset severe pre-eclampsia and labetalol therapy
Chengjuan SUN ; Yike YANG ; Weiyuan ZHANG ; Xiaowei LIU
Chinese Journal of Perinatal Medicine 2017;20(5):375-381
Objective To explore the associations of the genetic polymorphisms of cytochrome P450, family 2, subfamily D, polypeptide 6 (CYP2D6) and cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9) with early-onset severe pre-eclampsia and the efficacy of labetalol therapy. Methods Totally 105 gravidas diagnosed with early-onset severe pre-eclampsia (experimental group) and 103 healthy gravidas (control group) were recruited from Beijing Obstetrics and Gynecology Hospital between August 2013 and July 2016. Labetalol was given to control blood pressures in gravidas with early-onset severe pre-eclampsia. If labetalol administration alone did not exceed the mean dose (100 mg, one dose per eight hours) and effectively controlled the blood pressures, it would be considered to be valid (n=75), otherwise it would be viewed as an invalid treatment. Genotype and allele frequencies of CYP2C9 gene (rs1057910 and rs4918758) and CYP2D6 gene (rs1065852, rs28371725, rs35742686 and rs3892097) in the gravidas were analyzed by TaqMan probe polymerase chain reaction. Differences in the genotype and allele frequencies were compared between the experimental and control groups, and the valid and invalid labetalol treatment groups. Chi-square test, analysis of variance and LSD test were used as statistical methods. Results The gravidas in both experimental and control groups were AA genotype in CYP2C9 gene rs1057910, TT genotype in CYP2D6 gene rs35742686 and CC genotype in CYP2D6 gene rs3892097. Frequencies of CC and CT genotypes in CYP2D6 gene rs28371725 in the experimental group were higher than those in the control group [18.1% (19/105) vs 14.6% (15/103);56.2% (59/105) vs 42.7% (44/103); χ2=6.707], and higher C allele frequency in CYP2D6 gene rs28371725 was also observed in the experimental group [46.2% (97/210) vs 35.9% (74/206), χ2=4.529] (all P<0.05). No statistical differences in maternal age, diastolic pressure, body mass index before pregnancy, serum triglyceride, creatinine and neonatal birth weight were observed among women with CC, CT or TT genotype of CYP2D6 gene rs28371725 in the experimental group (all P>0.05). Compared with the gravidas with CT or TT genotype of CYP2D6 gene rs28371725, those with CC genotype had longer gestational age [(32.5±2.1) vs (29.5±1.8) and (29.8±2.2) weeks] and higher plasma albumin [(27.2±9.3) vs (20.3±10.4) and (22.5±7.4) g/L], but lower systolic pressure and 24 hours urine protein (LSD test, all P<0.05). The G allele frequency in CYP2D6 gene rs1065852 in invalid labetalol treatment group was higher than that in valid labetalol treatment group [93.3% (56/60) vs 76.0% (114/150), χ2=8.351, P=0.004]. Conclusions The polymorphism of CYP2D6 gene rs28371725 may be associated with early-onset severe pre-eclampsia, and the allele of G in CYP2D6 gene rs1065852 may be associated with the efficacy of labetalol in treatment of early-onset severe pre-eclampsia.
8.Evaluation on the performance of MicroScan WalkAway in detecting carbapenem-resistant Enterobacteriaceae
Zhichang ZHAO ; Maobai LIU ; Bin LI ; Weiyuan CHEN ; Jingling ZHANG ; Liya HUANG ; Rui LIU ; Qili LIN
Chinese Journal of Infection and Chemotherapy 2017;17(1):42-45
Objective To investigate the performance of MicroScan WalkAway 96 Plus (MSW) system in detection of carbapenem-resistant Enterobacteriaceae (CRE).Methods A total of 81 stock CRE strains were used in this study. Bacterial identification and antimicrobial susceptibility test were performed by MSW system. Beta-lactamases genes blaKPC,blaIMP,blaVIM, blaOXA-48 and blaNDM were amplified by PCR and subjected to sequencing analysis. Disk diffusion method and PCR were used as gold standard to evaluate the performance and reliability of MSW system in identifying carbapenem-resistant and carbapenemase-producing Enterobacteriaceae.Results Overall, 69.1 % (56/81) of the Enterobacteriaceae strains were identified as CRE by the MSW system. The results of PCR showed that 48 strains were carbapenemase-producing Enterobacteriaceae. When carbapenemase-producing Enterobacteriaceae strains were identified by the instrument using an advanced expert system, the sensitivity was 93.8 % and specificity was 42.4 %. The positive predictive value was 70.3 %, the negative predictive value was 82.4 % and the predictive accuracy value was 72.8 %.Conclusions The MicroScan WalkAway 96 Plus system has shown good performance in detection of CRE.
9.The application of scenario-based training and medical simulator in the orthopedics education
Weiyuan XIAO ; Zude LIU ; Jie XIAO ; Weifeng YU ; Zhanchun LI
Chinese Journal of Medical Education Research 2017;16(6):584-587
Objective To evaluate the application of scenario-based training and medical simulator in the orthopedics education. Methods A total of 60 students from Shanghai Jiao Tong University School of Medicine who finished their orthopedics internship from January 2016 to July 2016 were involved. They were randomly divided into the study group and control group with 30 students each. The study group re-ceived 2 classes of scenario-based training and medical simulator assisted education during their internship in the orthopedics department while the control group received 2 classes of traditional lessons instead. Sur-veys were conducted after the internship and the scores of internship were also recorded. Result The overall satisfaction was higher in the study group than the control group [(8.6±0.6) vs. (8.1±0.5), P=0.001]. On the part of learning interest, clinical thinking, clinical practice and group working, the study group also received better evaluation (P<0.05). The study group achieved better scores in the final examination than the control group [(84.4±2.6) vs. (82.5±3.4), P=0.018]. Conclusion The combination of scenario-based training and medical simulator can improve the ability of medical students in the orthopedics education, and receive higher satisfaction.
10.Analysis on the quality of life and influencing factors in different family life cycle residents
Junding XIAN ; Jianfeng TAN ; Chonghua WAN ; Mingyang CHEN ; Yulan YU ; Weiyuan LIU
Chinese Journal of Behavioral Medicine and Brain Science 2016;25(12):1118-1122
Objective To compare the quality of life ( QOL) in different family life cycle residents and analyze its influencing factors. Methods Based on the stratified cluster sampling,517 married residents from three communities of Dongguan city were chosen to be investigated by a questionnaire on the general status and the MOS health survey (SF-36).The One-Way ANOVA and Multiple Regression Analysis were used to analyze the data. Result There were significant differences on the seven domains of the SF-36 ex-cept of physical pain in different family life cycle residents (P<0.05) . The scores of different domains at the retirement or senior years were the lowest ( ranging from 37.10-59.81) ,and the scores of different domains at the child-bearing period were highest (ranging from 37.10-59.81). The results of Multiple Linear Stepwise Regression showed that the QOL of different family life cycle residents were influenced by some factors. The influencing factors on PCS at the child-bearing period were income (β=1.51) and life events (β=-6.13), while that at the period of families with adolescents were economic income (β=1.81) and age (β=-0.65);that at the period of empty nest were economic income (β=-3.64) and age (β=-0.65);and that at the re-tirement or senior years were unhealthy living habit (β=-15.06),age (β=-0.56) and income (β=3.06). The influencing factors on MCS at the child-bearing period was medical insurance (β=5.86),while that at the period of families with adolescents were medical insurance (β=6.28),education (β=2.32),life events (β=-4.68) and occupation (β=-5.53);that at the period of the empty nest were age (β=-0.61) ,gender (β=-10.35) and chronic disease (β=-8.35);that at the retirement or senior years were age (β=-0.27) , economic income (β=2.55) and unhealthy living habit (β=-6.95) . Conclusion The influencing factors of QOL for different family cycle residents are not conformity with each other. It suggested that in order to im-prove the QOL of residents, the community health service including health education and health promotion should be based on different family life cycle.

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