1.Association of Kidd blood group distribution and genotypes specificity with the risk of coronary heart disease
Fei LI ; Jin QIU ; Huijun LI ; Xiaojie MA ; Tiesuo ZHAO ; Wei CHEN
Chinese Journal of Blood Transfusion 2025;38(6):803-810
Objective: To investigate the distribution characteristics of Kidd blood group antigens, phenotypes and genotypes in Xinjiang and their influence on the risk of coronary heart disease. Methods: Samples from 7 981 patients treated at People's Hospital of Xinjiang Uygur Autonomous Region from August 1, 2023 to May 31, 2024 were collected for Jk(a-b-) phenotype screening via urea hemolysis test, followed by the third-generation sequencing (TGS). Kidd blood group Jk
and Jk
antigens in 1 081 patients with coronary heart disease and 1 021 healthy people were detected, and their phenotype frequency distribution was analyzed and corresponding gene frequencies were calculated. Correlation analysis and logistic regression were used to evaluate the influence of Kidd blood group antigen expression on coronary heart disease risk. Results: Two Jk(a-b-) phenotype samples were detected, both resulting from novel gene mutation combinations. Comparative analysis of two groups revealed a higher proportion of the Jk(a-b+) phenotype in the case group (22.5%, 243/1 081) than in the control group (18.5%, 189/1 021). Moreover, Kidd blood group phenotype distribution varied significantly across all ethnic groups in the case group (P<0.05). In the control group, the Hui ethnic group exhibited the highest JK
JK
genotype frequency 64.15% (34/53). In the case group, the highest JK
allele frequency was observed in Mongol ethnic group 56.31% (125/222), and the lowest in Han patients 45.71% (341/746). The expression of Jk
antigen was negatively correlated with coronary heart disease (P<0.05). Conclusion: The distribution of Kidd blood group system varied across ethnic groups in Xinjiang. The expression of Jk
antigen may have protective effect on coronary heart disease, which provides a basis for future clinical blood transfusion treatment and the mechanism study of the correlation between Kidd blood group and coronary heart disease.
2.Application of automatic slide-dropping instrument in bone marrow chromosomal karyotyping
Wei ZHANG ; Chenghua CUI ; Ji ZHOU ; Yanyi LYU ; Siping WANG ; Shenghua CHEN ; Huijun WANG ; Qi SUN ; Zhijian XIAO ; Chengwen LI
Chinese Journal of Medical Genetics 2024;41(7):803-806
Objective:To explore the application of an automatic slide-dropping instrument in bone marrow chromosomal karyotyping.Methods:The effects of manual and automatic dropping methods under different environmental humidity were retrospectively analyzed, and the repeatability of the automatic dropping method was analyzed.Results:No statistical difference was found between the results of automatic and manual dropping methods under the optimum ambient humidity and high humidity ( P>0.05). At low humidity, there was a statistical difference between the two methods ( P<0.05). With regard to the repeatability, the coefficient of variations of the automatic dropping method for the number of split phases, the rate of good dispersion and the rate of overlap were all lower than those of the manual dropping method. A statistical difference was also found in the number of split phases ( P<0.05) but not in the discrete excellent rate and overlapping rate between the two methods ( P>0.05). Conclusion:Better effect can be obtained by the automatic dropping instrument. It is suggested to gradually replace manual work with machine.
3.Analysis of risk factors and their warning effectiveness for postoperative intestinal barrier dysfunction in patients with severe traumatic brain injury
Chunlong DING ; Junjie CHEN ; Shaodong XI ; Qinwei ZHOU ; Huijun WANG ; Jie QIU ; Huize LIU ; Yelei ZHANG ; Yunxu ZHENG ; Fukang DONG
Chinese Journal of Trauma 2024;40(2):127-132
Objective:To investigate the risk factors and their warning effectiveness for postoperative intestinal barrier dysfunction (IBD) in patients with severe traumatic brain injury (sTBI).Methods:A retrospective cohort study was conducted to analyze the clinical data of 101 patients with sTBI admitted to Wuxi Branch of Zhongda Hospital Affiliated to Southeast University from May 2020 to February 2023, including 63 males and 38 females, aged 21-81 years [(53.4±14.2)years]. All the patients underwent emergency surgery. The patients were divided into IBD group ( n=67) and non-IBD group ( n=34) according to whether or not they had IBD after surgery. The gender, age, basic diseases (hypertension and diabetes), types of intracranial hematoma (subdural, epidural, and intracerebral hematoma), preoperative Glasgow Coma Scale (GCS), cerebral hernia, intraoperative initial intracranial pressure (iICP), operation time, removal of bone flap, treatment time in ICU, initiation time of enteral nutrition, and use of broad-spectrum antibiotics were recorded in the two groups. Univariate and multivariate binary Logistic regression analyses were conducted to assess the correlations between above-mentioned indicators and incidence of postoperative IBD in sTBI patients and determine the independent risk factors for sTBI. Receiver operating characteristic (ROC) curve and area under the curve (AUC) were used to evaluate the warning effectiveness of each risk factor for IBD. Results:The results of the univariate analysis showed that preoperative GCS, cerebral hernia, intraoperative iICP, removal of bone flap, treatment time in ICU, initiation time of enteral nutrition, and use of broad-spectrum antibiotics were significantly correlated with the incidence of IBD in sTBI patients ( P<0.05 or 0.01), while there were no correlations of IBD with gender, age, basic diseases, types of intracranial hematoma and operation time ( P>0.05). The results of the multivariate binary Logistic regression analysis showed that preoperative GCS≤5 points ( OR=2.49, 95% CI 1.17, 5.32, P<0.05), intraoperative iICP>23 mmHg (1 mmHg=0.133 kPa)( OR=1.20, 95% CI 1.03, 1.39, P<0.05), and initiation time of enteral nutrition>24 hours ( OR=10.03, 95% CI 1.26, 80.21, P<0.05) were highly correlated with postoperative IBD in sTBI patients. The results of the ROC curve analysis showed that intraoperative iICP had the highest warning value (AUC=0.91, 95% CI 0.85, 0.96), followed by preoperative GCS (AUC=0.88, 95% CI 0.82, 0.95), and initiation time of enteral nutrition had the lowest warning value (AUC=0.78, 95% CI 0.69, 0.87). Conclusions:Preoperative GCS≤5 points, intraoperative iICP>23 mmHg, and initiation time of enteral nutrition>24 hours are independent risk factors for postoperative IBD in sTBI patients. The warning value of intraoperative iICP ranks the highest for postoperative IBD in sTBI patients, followed by preoperative GCS, with initiation time of enteral nutrition having the lowest warning value.
4.Clinical analysis of 12 cases of ovarian yolk sac tumor
Juan LIU ; Huijun CHU ; Yuping SHAN ; Wenjing SONG ; Aiping CHEN
Chinese Journal of Obstetrics and Gynecology 2024;59(3):210-214
Objective:To investigate the diagnosis, treatment and prognosis of ovarian yolk sac tumor (OYST).Methods:The clinicopathological data and follow-up data of 12 patients with OYST admitted to the Affiliated Hospital of Qingdao University from January 2013 to December 2020 were retrospectively analyzed, and the diagnosis, treatment and prognosis of OYST patients were summarized.Results:(1) The age of 12 patients with OYST ranged from 11 to 37 years, with a median age of 20 years. At the first visit, all 12 patients had pelvic masses. Reasons for seeing a doctor: 6 cases of abdominal distension and abdominal pain, 4 cases of mass in the lower abdomen, 1 case of vaginal bleeding, and 1 case of appendicitis. International Federation of Obstetrics and Gynecology (FIGO) 2014 staging: 4 cases in stage Ⅰa, 2 cases in stage Ⅰc, 1 case in stage Ⅱc, 4 cases in stage Ⅲc, and 1 case in stage Ⅳb. (2) All 12 patients were examined by color Doppler ultrasound before operation, among which 10 cases showed unilateral adnexal masses and 2 cases bilateral adnexal masses. The median maximum diameter of tumor was 16.5 cm (range: 6.0-28.0 cm). The preoperative levels of alpha fetoprotein (AFP) in 12 patients (all >1 210 μg/L) were significantly higher than normal (<25 μg/L). Among the 11 patients with cancer antigen 125 (CA 125) detection results, 9 patients showed elevated serum CA 125 levels. (3) Among the 12 patients, 8 young infertile patients who needed to preserve their reproductive function underwent appendectomy, 3 infertile patients underwent staged surgery for ovarian malignant germ cell tumor, and only one bilateral lesion and infertile patient underwent unsatisfactory staged surgery for ovarian malignant germ cell tumor. Of the 12 patients, 11 patients were given combined chemotherapy regimen of bleomycin, cisplatin, and etoposide (BEP) after operation. One patient without chemotherapy developed metastasis 3 months after operation, and was given BEP chemotherapy, and her condition was controlled. (4) The deadline for follow-up was December 31st, 2022, and the median follow-up time was 60 months (range: 25-115 months). All the 12 patients survived without tumor during the follow-up period, and the median disease-free survival time was 84.5 months (range: 25-115 months). Conclusions:OYST mostly occurs in children and young women. Color Doppler ultrasound examination and serum AFP and CA 125 detection have diagnostic value for OYST. Surgical treatment after diagnosis of OYST includes surgery to preserve reproductive function and timely and standardized chemotherapy after operation. The prognosis of patients is good regardless of stage.
5.Educational attainment increases the risk of developing allergic rhinitis and (or) eczema: a Mendelian randomization study based on genome-wide association studies in European patients
Rui ZHENG ; Zifeng LIU ; Zhuanggui CHEN ; Xuekun HUANG ; Peiying FENG ; Huijun QIU ; Yaxin LU ; Jingjing CHEN ; Yana ZHANG ; Jianrong ZHANG ; Qintai YANG
Chinese Journal of Preventive Medicine 2024;58(6):791-798
Objective:To determine the causal relationship between educational attainment and the risk of allergic rhinitis and (or) eczema using Mendelian randomization (MR) analyses.Methods:This study was a secondary data analysis based on the summary data of genome-wide association studies (GWAS), which involved 293 723 participants (educational attainment) from the Social Science Genetics Association Consortium and 462 013 participants [allergic rhinitis and (or) eczema] from the UK Biobank. Genetic variants that were closely related to educational attainment were identified as instrumental variables. Two-sample MR analyses, including inverse-variance weighted (IVW), MR-Egger regression, weighted median method and weighted model-based estimation, were performed to investigate the causal relationship between educational attainment and the risk of allergic rhinitis and (or) eczema, in which the odds ratio ( OR) values were used as indicators. Results:A total of 70 single-nucleotide polymorphisms (SNPs) were chosen as instrumental variables. The MR-Egger regression results suggested that the genetic pleiotropy was unlikely to bias our results ( P=0.107). In the univariable MR analyses, IVW regression showed that the risk of allergic rhinitis and (or) eczema was OR=1.044 (95% CI: 1.020-1.069, P<0.001) and OR=1.170 (95% CI: 1.074-1.256, P<0.001), respectively, for the increase in the duration of education by one year or one standard deviation ( SD) (3.71 years). In the reverse MR analysis, IVW regression showed little evidence that allergic rhinitis and (or) eczema affected educational attainment ( OR=1.020, 95% CI: 0.927-1.023, P=0.683). The results of the weighted median method and weighted mode-based estimation were consistent with the results of IVW. Conclusion:This study suggests that there is a positive causal relationship between educational attainment and the risk of allergic rhinitis and (or) eczema, which means that educational attainment can increase the occurrence of allergic rhinitis and (or) eczema.
6.Educational attainment increases the risk of developing allergic rhinitis and (or) eczema: a Mendelian randomization study based on genome-wide association studies in European patients
Rui ZHENG ; Zifeng LIU ; Zhuanggui CHEN ; Xuekun HUANG ; Peiying FENG ; Huijun QIU ; Yaxin LU ; Jingjing CHEN ; Yana ZHANG ; Jianrong ZHANG ; Qintai YANG
Chinese Journal of Preventive Medicine 2024;58(6):791-798
Objective:To determine the causal relationship between educational attainment and the risk of allergic rhinitis and (or) eczema using Mendelian randomization (MR) analyses.Methods:This study was a secondary data analysis based on the summary data of genome-wide association studies (GWAS), which involved 293 723 participants (educational attainment) from the Social Science Genetics Association Consortium and 462 013 participants [allergic rhinitis and (or) eczema] from the UK Biobank. Genetic variants that were closely related to educational attainment were identified as instrumental variables. Two-sample MR analyses, including inverse-variance weighted (IVW), MR-Egger regression, weighted median method and weighted model-based estimation, were performed to investigate the causal relationship between educational attainment and the risk of allergic rhinitis and (or) eczema, in which the odds ratio ( OR) values were used as indicators. Results:A total of 70 single-nucleotide polymorphisms (SNPs) were chosen as instrumental variables. The MR-Egger regression results suggested that the genetic pleiotropy was unlikely to bias our results ( P=0.107). In the univariable MR analyses, IVW regression showed that the risk of allergic rhinitis and (or) eczema was OR=1.044 (95% CI: 1.020-1.069, P<0.001) and OR=1.170 (95% CI: 1.074-1.256, P<0.001), respectively, for the increase in the duration of education by one year or one standard deviation ( SD) (3.71 years). In the reverse MR analysis, IVW regression showed little evidence that allergic rhinitis and (or) eczema affected educational attainment ( OR=1.020, 95% CI: 0.927-1.023, P=0.683). The results of the weighted median method and weighted mode-based estimation were consistent with the results of IVW. Conclusion:This study suggests that there is a positive causal relationship between educational attainment and the risk of allergic rhinitis and (or) eczema, which means that educational attainment can increase the occurrence of allergic rhinitis and (or) eczema.
7.Analysis of genetic etiology of 234 deaths in the pediatric intensive care unit with suspected genetic diseases
Yao WANG ; Yixue WANG ; Yanyan QIAN ; Suzhen XU ; Weiming CHEN ; Gangfeng YAN ; Huijun WANG ; Bingbing WU ; Guoping LU
Chinese Journal of Pediatrics 2024;62(8):741-746
Objective:To explore the genetic etiology of pediatric intensive care unit (PICU) mortality cases and summarize their clinical characteristics.Methods:This was a retrospective cohort study. The study population consisted of 234 children who died within 7 d after admitted to the PICU of Children′s Hospital of Fudan University from January 2017 to December 2021. The clinical diagnoses, laboratory test results, and genetic testing results were collected. These patients were divided into the pathogenic gene variation positive (PGVP) group and the pathogenic gene variation negative (PGVN) group according to the results of genetic testing. The Mann-Whitney U test and Pearson′s chi-square test or Fisher′s exact probability method were used to compare the clinical characteristics between the groups. Results:A total of 234 cases were enrolled, including 139 (59.4%) males and 95 (40.6%) females. The age at death was 1.0 (0.4, 3.7) years old and the length of PICU stay was 16 (6, 33) days. There were 62 cases (26.5%) PGVP, and the mutated pathogenic genes included immune genes (23 cases (37.1%)), metabolic genes (11 cases (17.7%)), neuromuscular genes (11 cases (17.7%)), cardiovascular genes (4 cases (6.5%)), and genes of other systems (13 cases (21.0%)). The age at death in PGVP cases was significantly lower than in PGVN cases (0.6 (0.3, 1.4) vs. 1.3(0.5, 4.3) years old, Z=3.85, P<0.001). Compared with the PGVN group, the PGVP group had a higher incidence of family history and chronic complex conditions (CCC) than the PGVN group (6.5% (4/62) vs. 0.6% (1/172) and 93.5% (58/62) vs. 76.2% (131/172), χ2=8.87, P=0.018 and 0.003, respectively). Children in the PGVP group were admitted with higher incidence of severe infection, decreased consciousness or coma, moderate-to-severe anemia, thrombocytopenia, protracted diarrhea, and abnormalities in muscle strength or tone than those in the PGVN group (74.2%(46/62) vs. 45.9%(79/172), 50.0%(31/62) vs. 35.5%(61/172), 32.3%(20/62) vs. 18.0%(31/172), 21.0%(13/62) vs. 10.5%(18/172), 25.8%(16/62) vs. 4.1%(7/172), 16.1%(10/62) vs. 5.2%(9/172), χ2=14.63, 4.04, 5.41, 4.37, 24.30, 7.25, all P<0.05). Pathogenic genes that occurred more than twice included IL2RG (5 cases), SMN1 (4 cases), and SH2D1A (3 cases, including 2 single gene varients and 1 copy number varient). Conclusions:Among the deceased cases in the PICU, the main genetic causes are immune-related, metabolic, and neuromuscular genetic disorders. Critically ill children with a family history, CCC, and early features such as severe infections, decreased consciousness or coma, moderate to severe anemia, thrombocytopenia, protracted diarrhea, or abnormalities in muscle strength or tone should be closely monitored and undergo early genetic testing.
8.Effect of positive P-glycoprotein expression on efficacy of PCIA with sufentanil or pentazocine in patients with cancer pain
Zhiyong FANG ; Lingchuan WANG ; Jun WANG ; Chen FENG ; Shudong YANG ; Huijun MU ; Wenhua ZHA
Chinese Journal of Anesthesiology 2024;44(9):1112-1116
Objective:To evaluate the effect of the positive P-glycoprotein expression on the efficacy of patient-controlled intravenous analgesia (PCIA) with sufentanil or pentazocine in patients with cancer pain.Methods:This was a retrospective cohort study. The medical records of patients with cancer pain of either sex, aged 54-71 yr, weighing 49-67 kg, with TNM stage Ⅱ-Ⅳ, who were treated in People′s Hospital of Lishui from January 2020 to January 2024, were collected. The expression of P-glycoprotein in tumor tissues was determined by the immunohistochemical method. Patients with negative P-glycoprotein expression in tumor tissues were divided into 2 groups: sufentanil group (group S 1) and pentazocine group (group P 1). Patients with positive P-glycoprotein expression in tumor tissues were divided into 2 groups: sufentanil group (group S 2) and pentazocine group (group P 2). The patients in 4 groups received 48 h of PCIA when visual analogue scale > 5 cm. The PCIA solution contained sufentanil 2 μg/kg and tropisetron 10 mg in 100 ml of normal saline in S 1 and S 2 groups or pentazocine 3 mg/kg+ tropisetron 10 mg in 100 ml of normal saline in P 1 and P 2 groups. The PCIA pump was set up to deliver a 1 ml bolus dose with a 10-min lockout interval and background infusion at 2 ml/h after a loading dose of 5 ml. Flurbiprofen 50 mg was intravenously injected when visual analogue scale > 3 cm during analgesia. The consumption of sufentanil, pentazocine and flurbiprofen within 4 h, >4-12 h, > 12-24 h and > 24-48 h of PCIA was recorded. The occurrence of adverse reactions such as respiratory depression (SpO 2<90%), nausea or/and vomiting, pruritus and bradycardia was recorded. Results:One hundred patients were finally included, with 25 in each group. There was no significant difference in the consumption of sufentanil, usage rate of flurbiprofen and incidence of respiratory depression, nausea and vomiting, pruritus and bradycardia during analgesia at each time period during PCIA between group S 1 and group S 2 ( P>0.05). Compared with group P 1, the consumption of pentazocinein was significantly increased within 4 h, > 4-12 h, and > 24-48 h of PCIA ( P<0.05), and no significant change was found in the usage rate of flurbiprofen at each time period and the incidence of respiratory depression, nausea or/and vomiting, pruritus and bradycardia during analgesia in group P 2 ( P>0.05). Conclusions:Positive P-glycoprotein expression may weaken the efficacy of PCIA with pentazocine, but exerts no effect on the efficacy of PCIA with sufentanil in patients with cancer pain.
9.Organization design and implementation process management based upon an investigator-initiated multi-center prospective clinical trial of kidney transplantation
Sijun WANG ; Huijun CHEN ; Peidan KUANG ; Qinghang WU ; Mengna HU ; Gang CHEN ; Lei ZHANG ; Lan ZHU
Chinese Journal of Organ Transplantation 2024;45(7):476-480
Based upon the experiences of planning and implementation of "Dynamic changes of Torque Teno virus load in Chinese renal transplant recipients with immunosuppressive therapy: A multi-center prospective observational double-blind cohort study", this article explored the current status and major difficulties of investigator-initiated multi-center prospective clinical trials of kidney transplantation in China. Various issues of organization design and implementation process management were discussed for enhancing the quality of implementing the relevant trials.
10.Advances in the diagnosis of primary solid small bowel tumors by contrast-enhanced multislice spiral CT
Yingxiu CHEN ; Qianqian LIU ; Huijun JI ; Qi CHEN ; Mengyao GU ; Wanhu LI
Chinese Journal of Radiological Health 2023;32(1):75-80
Primary small bowel tumors have low incidence and contain predominantly solid components, and the lesions are similar and difficult to be detected and distinguished with multislice spiral CT (MSCT) plain scans. In this article we describe contrast-enhanced MSCT technique and imaging characteristics for solid small bowel tumors or small bowel tumors containing predominantly solid components, including the type and use of contrast agents. In contrast-enhanced MSCT, small bowel imaging with CT has the advantages of determining the true extent of intestinal wall lesions, the possible extent of wall penetration, the degree of mesenteric involvement, and distant metastases, as well as easiness to detect and identify the blood supply vessels of small bowel tumors and assessment of the corresponding complications. Contrast-enhanced MSCT has become the best noninvasive imaging technique for the diagnosis, evaluation, and staging of solid small bowel tumors or small bowel tumors containing predominantly solid components. CT texture analysis (CTTA) is a new research hotspot and can be useful for the correct diagnosis of primary small bowel tumors containing predominantly solid components.


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