1.Clinical application of KASP-based RHCE genotyping in RhD-positive patients
Xiaoyu LIAN ; Mengdan LI ; Xiaoyu GUAN ; Li TIAN ; Chenying WANG ; Di WU ; Tianqiong LUO ; Xiaolin DU ; Xin JI ; Haixia XU ; Jue WANG ; Ling LI ; Zhong LIU
Chinese Journal of Blood Transfusion 2026;39(5):596-602
Objective: To develop a RHCE genotyping assay based on kompetitive allele-specific PCR (KASP) and assess its clinical accuracy for RhCE blood group determination. Methods: KASP primers were designed to interrogate three RHCE loci: the 109 bp insertion/deletion in intron 2, c. 307T>C, and c. 676C>G. A total of 1 194 RhD-positive inpatients from Chengdu were typed by both KASP genotyping and manual tube serology. Discordant samples (n=10) were retested by both methods and further resolved by Sanger sequencing. An additional 377 cases were tested for the c. 48C>G locus to evaluate the predictive accuracy of individual loci and combined locus testing for RhC antigen. Results: Genotyping concordance with serology was 100.0% for both the c. 676C>G locus (RhE/Rhe) and the c. 307T>C locus (Rhc). For RhC prediction using the 109 bp insertion, overall accuracy was 99.7% (1 191/1 194); the 3 discordant cases were confirmed by Sanger sequencing to be false negatives attributable to 109 bp deletion in intron 2. Testing the c. 48C>G allele for RhC prediction yielded 7 false positives, with an accuracy of 98.1% (370/377). RhC antigen status was determined by combining the 109 bp insertion and the c. 48C allele. After excluding 10 samples with inconsistent results between the two loci, the accuracy reached 100% in the remaining 367 samples. When both loci were applied in combination, accuracy reached 100% in the 367 cases with concordant results. Among the 1 194 patients, CCee (45.8%) and CcEe (31.7%) were the most common RhCE phenotypes. The e antigen had the highest positivity rate (92.2%), and the Ce haplotype was the most frequent (66.9%). Conclusion: The KASP-based RHCE genotyping method achieves high accuracy for clinical RhCE typing. Combining the 109 bp insertion/deletion with the c. 48C allele significantly improves RhC antigen prediction compared with either locus alone. This method was applied to RhCE genotyping of 1 194 RhD-positive inpatients in Chengdu, providing local RhCE phenotype and haplotype distribution data to support RhCE-matched transfusion practice.
2.Effect of 3d-printed bolus installation on radiotherapy after radical mastectomy
Liu RUI ; Luo TAOHONG ; Cao ZONGBAO ; Ke XIAOLIN ; Ling RUI ; Li XUEWEN
Chinese Journal of Clinical Oncology 2025;52(3):140-143
Objective:By comparing the effects of installing 3d-printed bolus with or without positioning holes on the skin fit and patient dose distribution,the advantages and disadvantages of the two installation methods in the application of radiotherapy after radical breast cancer surgery were evaluated,and the reference was provided for clinical application.Methods:A total of 48 patients(34 patients with and 14 patients without positioning holes)who received radiotherapy for breast cancer in Suining Central Hospital from December 2022 to Au-gust 2024 were randomly selected.Three dimensional reconstruction of the air gap between the patient body surface and the 3d-printed bolus was conducted,and the tissue dose distribution of each case was analyzed.Comparative analysis was conducted using t-test to ana-lyze the differences of the skin fit and the key dosimetric indexes of target areas and organs at risk between the two bolus installation meth-ods.Results:The mean values of the maximum air gap height,air gap area and air gap volume of the group with positioning holes were lower than those of the group without positioning holes(P<0.05),and the skin fit showed better consistency.The target area conformity in-dex(CI),homogeneity index(HI),and affected lung radiation acceptance(V20,V5)of patients with positioning holes were better than those of patients without positioning holes(P<0.05).There was no significant difference in target area coverage of prescription dose,cardiac dose Dmean and spinal cord dose Dmax between two groups(P>0.05).Conclusions:The skin fit,dosimetric indexes of patient target area and or-gans at risk of 3d-printed bolus with positioning holes were superior to those without positioning holes,showing significant advantages in clinical applications.
3.Correlation of FSTL-1 and CHIT-1 levels in peripheral blood with cardiovascular diseases in hemodialysis patients and their clinical value
Qiong LUO ; Xiaolin PENG ; Zhongheng XU ; Xiaofeng PI
International Journal of Laboratory Medicine 2025;46(18):2190-2195
Objective To investigate the correlation of peripheral blood follicle suppressor-like protein L(FSTL-1)and chitosanidase 1(CHIT-1)levels with cardiovascular diseases(CVD)in hemodialysis patients and their clinical value.Methods A total of 150 hemodialysis patients treated in Chongqing Liangjiang New Area People's Hospital from January 2021 to June 2023(case group)and 60 healthy people who underwent medical checkups(control group)were selected.The case group consisted of 62 patients who had CVD(CVD group)and 88 patients who did not have CVD(non-CVD group).Enzyme-linked immunosorbent assay was used to detect the levels of FSTL-1 and CHIT-1 in peripheral blood.The levels of FSTL-1 and CHIT-1 among the groups were compared,and the correlation between the levels of FSTL-1 and CHIT-1 with the Gensini scores,high-sensitivity C-reactive protein(hs-CRP),troponin T(cTnT),and left ventricular ejection fraction(LVEF)were analyzed by Pearson's correlation test.Multivariate Logistic regression was used to analyze the influencing factors affecting the occurrence of CVD.Receiver operating characteristic(ROC)curve was used to assess the predictive efficacy of FSTL-1 and CHIT-1 for the occurrence of CVD.Results The levels of FSTL-1 and CHIT-1 were higher in the CVD group and non-CVD group than those in the control group(F=229.200,273.200,P<0.05),and the levels of FSTL-1 and CHIT-1 in the CVD group were higher than those in the non-CVD group(P<0.05).The peripheral blood FSTL-1 and CHIT-1 levels in hemodialysis patients were positively correlated with Gensini score,cTnT,hs-CRP(r=0.662,0.724,0.712,r=0.679,0.502,0.341,P<0.05)and negatively correlated with LVEF(r=-0.463,-0.581,P<0.05).Compared with the non-CVD group,CVD group had longer chronic kidney disease duration,higher hs-CRP,cTnT,Gensini score,FSTL-1,CHIT-1(P<0.05),and lower LVEF(P<0.05).High levels of cTnT,FSTL-1,and CHIT-1 were independent risk factors for CVD in hemodialysis patients(P<0.05).The area under the curve of the com-bined detection of peripheral blood FSTL-1 and CHIT-1 levels for predicting the occurrence of CVD in hemo-dialysis patients was 0.852(95%CI:0.789-0.915),which was significantly larger than those of the single index of FSTL-1 and CHIT-1(Z=-2.084,-3.112,P=0.038,0.002).Conclusion The increased levels of peripheral blood FSTL-1 and CHIT-1 levels in CVD patients are correlated with cardiovascular injury,cardiac function,and inflammatory indexes in hemodialysis patients,which are independent risk factors affecting the occurrence of CVD in hemodialysis patients,and the combined detection of the two could improve the predic-tive efficacy for the occurrence of CVD in hemodialysis patients.
4.Association Between Surrogate Markers of Insulin Resistance and Incident Cardiovascular Disease in a Population With Stages 0-3 Cardiovascular-Kidney-Metabolic Syndrome:A Prospective Cohort Study
Yajie ZHAO ; Lele WANG ; Jiawei LI ; Bing GUO ; Juying ZHANG ; Xiaolin GUO ; Yuying LUO ; Gonghua WU ; Xing ZHAO
Journal of Sichuan University (Medical Sciences) 2025;56(2):495-505
Objective To investigate the association between 8 insulin resistance(IR)surrogate markers and incident atherosclerotic cardiovascular disease(ASCVD)in population with cardiovascular-kidney-metabolic syndrome(CKM)of stages 0-3,and to identify the surrogate marker with the best predictive performance.Methods A study was conducted on 20121 community residents classified as CKM stages 0-3 from the Chengdu cohort of the China Multi-Ethic Cohort.A Cox proportional hazards model was used to calculate hazard ratios(HRs)between each IR surrogate marker and incident ASCVD.Cubic spline regression was employed to explore the dose-response relationships between these markers and incident ASCVD.The relative relationships between different markers and incident ASCVD were examined through the ratio of HRs(RHRs).Time-dependent area under the receiver operating characteristic curve(TDAUC)and Uno's C-statistic were calculated to compare the predictive performance of each marker for incident ASCVD.Based on the PREVENT equation components and the 8 surrogate markers under analysis,random forest feature selection was used to determine the contribution of each marker to accurate prediction.Results During a follow-up period of82 741.93 person-years,1447 incident cases of ASCVD were recorded,with an incidence density of 17.49 per 1000 person-years.Association analyses indicated that the triglyceride to high-density lipoprotein cholesterol ratio(TG/HDL)and the TyG/(TG/HDL)index were not associated with incident ASCVD(P>0.05).The TyG index combined with obesity measurement parameters emerged as a reliable predictor of ASCVD incidence.The most promising indicator,TyG index with waist-to-height ratio(TyG_WHtR),exhibited an inverted J-shaped association with incident ASCVD(P for nonlinearity=0.045;TDAUC=0.640;C=0.634),while the TyG index with body mass index(TyG_BMI),waist circumference(TyG_WC),and waist-to-hip ratio(TyG_WHR)showed positive linear associations(all P for trend<0.05),with relatively lower predictive performance(C=0.564,0.588,and 0.598,respectively).Although both the TyG index and the metabolic score for insulin resistance(METS-IR)were associated with increased ASCVD risk(TyG:Q2 vs.Q1,HR=1.23 and Q4 vs.Q1,HR=1.24;METS-IR:P for non-linearity=0.045),they exhibited poor predictive performance for incident ASCVD.Conclusion The TyG index combined with obesity measurement parameters is an ideal IR surrogate marker for predicting incident ASCVD in populations with stages 0-3 CKM.Monitoring these markers will facilitate the prevention and control of cardiovascular diseases in CKM populations.
5.Intervention effect of nicotinamide mononucleotide on subacute benzene exposure-induced hematotoxicity in mice
Haohan CHEN ; Hongyun CHEN ; Xiaoyu MAO ; Zongxin LI ; Xiaolin LUO ; Mengjun HOU ; Qin XIAO ; Yongmei XIAO ; Xiumei XING
China Occupational Medicine 2025;52(6):612-617
Objective To assess the intervention effect of nicotinamide mononucleotide (NMN) on the mouse model of hematotoxicity induced by subacute benzene exposure. Methods Benzene exposure and NMN intervention were adopted in a 2×2 factorial design, as benzene exposure and non-exposure, and NMN intervention and non-intervention. Male specific pathogen-free C57BL/6J mice were randomly assigned to negative control group, NMN control group, simple benzene exposure group and NMN intervention group, with 12 mice in each group. Benzene exposure of mice in simple benzene exposure group and NMN intervention group was conducted by dynamic inhalation of benzene at a concentration of 325 mg/m³ for six hours per day, five days per week for four weeks (28 days). Mice in the negative control and NMN control group inhaled clean air. During benzene exposure, mice in the NMN control group and NMN intervention group received NMN in drinking water at a dose of 300 mg/kg body weight. Peripheral blood samples of mice were collected for complete blood count analysis and calculation of composite inflammatory indices after 28 days. Results Interaction analysis showed that the counts of peripheral white blood cell, neutrophil, lymphocyte, and platelet of mice in the simple benzene exposure group were lower than those in the negative control group (all P<0.05). Neutrophil and platelet counts in the NMN intervention group were higher than those in the simple benzene exposure group (all P<0.05). The results of main effect analysis showed that the monocyte count of peripheral blood, systemic inflammatory index, systemic inflammatory response index, neutrophil/lymphocyte ratio and platelet/lymphocyte ratio of mice in the benzene exposure group increased (all P<0.05), and the basophil count and lymphocyte/monocyte ratio decreased (all P<0.05), compared with the control group. Conclusion Oral NMN alleviates subacute benzene-induced decreases in peripheral neutrophil and platelet counts in mice. This protective effect may be related to the targeted intervention of NMN on mitochondrial energy metabolism disorder and oxidative damage induced by benzene exposure in male mice.
6.Exploring the construction of quality control system for electronic medical record system in the context of high quality development of public hospitals
Xinzhu JIANG ; Xiaolin LUO ; Qiaoli CHEN
Modern Hospital 2025;25(3):435-437
Objective Exploring the construction of an electronic medical record system quality control system,impro-ving the level of hospital informatization,and providing strong support for the high-quality development of public hospitals.Meth-ods Based on the national electronic medical record system application level grading evaluation work,analyze the current situa-tion and existing problems of electronic medical record system construction in 402 hospitals participating in electronic medical re-cord grading evaluation in Zhejiang Province in 2023,and find solutions.Results To ensure the quality of electronic medical re-cord system construction,it is not only necessary to strengthen the construction of talent team,but also to strengthen the normal-ized supervision mechanism,formulate relevant quality control policies and systems,and build a multi-level quality control net-work.Conclusion The construction of electronic medical record system quality control system requires collaboration and promo-tion from multiple aspects.
7.Study on the distribution of FMR1 CGG repeat numbers among 16 610 women of childbearing age in China
Yahui SHEN ; Wei HOU ; Xiaolin FU ; Manli ZHANG ; Xiaoxiao XIE ; Chunyan ZHANG ; Jiaxin BIAN ; Xiao MAO ; Juan WEN ; Chunyu LUO ; Hua JIN ; Qian ZHU ; Qingwei QI ; Yeqing QIAN ; Jing YUAN ; Yanyan ZHAO ; Ailan YIN ; Shutie LI ; Yulin JIANG ; Rui XIAO ; Yanping LU
Chinese Journal of Reproduction and Contraception 2025;45(4):398-402
Objective:To investigate the distribution of CGG repeat numbers in the FMR1 gene among reproductive-age women in China, providing data reference for carrier screening and genetic counseling of Fragile X syndrome. Methods:This cross-sectional study recruited 16 610 reproductive-age women from 12 medical institutions between July 2022 and October 2023. Peripheral venous blood samples (3 mL) were collected, and genomic DNA was extracted. The number of CGG repeats in the FMR1 gene was determined using the triplet-primed polymerase chain reaction (TP-PCR) combined with capillary electrophoresis technology. Statistical analyses were performed to assess the prevalence and distribution of CGG repeat expansions. Results:Among 16 610 women of childbearing age, 5 684 (34.220%) women had the same number of CGG repeats in the two alleles of FMR1 gene, and 10 926 (65.780%) women had different numbers of repeats in the two alleles. Among the 33 220 FMR1 alleles in 16 610 women of reproductive age, the most common CGG repeat numbers were 29 [48.645% (16 160/33 220)] and 30 [26.276% (8 729/33 220)], while the most frequent CGG genotype was CGG 29/29 [24.726% (4 107/16 610)]. The CGG repeat numbers of FMR1 gene were normal in 16 498 women (99.326%). Among the 112 women (0.674%) with CGG repeat abnormities, 96 (0.578%) women were classified as intermediate carriers, 15 (0.090%) as premutation carriers, and 1 (0.006%) as a full mutation carrier, whose CGG genotype was (36, >200). Conclusion:In the general reproductive-age female population in China, the normal CGG repeat numbers of the FMR1 gene account for 99.326%, while the intermediate carrier rate is 0.578%, and the combined carrier rate of the premutation and full mutation types is 0.096%.
8.Efficacy Observation of Filiform-Heated Needle Stimulation on Myofascial Trigger Points Based on the"Pivot Mechanism"Theory for Treating Neck-Shoulder Myofascial Pain Syndrome
Xuanling CHEN ; Xiaolin YE ; Qian XIE ; Shuxiong LUO ; Aiguo XUE ; Qing SONG
Journal of Guangzhou University of Traditional Chinese Medicine 2025;42(7):1693-1699
Objective To observe the clinical efficacy of filiform-heated needle stimulation on myofascial trigger points(MTrPs)based on the"pivot mechanism"theory in treating neck-shoulder myofascial pain syndrome(MPS).Methods Sixty-four patients diagnosed with neck-shoulder MPS from the Acupuncture Department(inpatient and outpatient)of Guangzhou University of Chinese Medicine Dongguan Hospital between January 2023 and September 2023 were selected and randomly divided into a control group and an observation group using a random number table,with 32 cases per group.The control group received oral administration of Celecoxib Capsules,while the observation group received additional filiform-heated needle therapy.The treatment duration was 2 weeks and 1 course per week.Clinical efficacy was evaluated after 2 weeks,with observing the changes in the Short-Form McGill Pain Questionnaire(SF-MPQ)scores,Neck Disability Index(NDI)scores.The cervical range of motion(ROM)was compared between the two groups.Results(1)After treatment,the SF-MPQ scores of the two groups of patients were significantly improved(P<0.05),and the observation group was significantly superior to the control group in improving the SF-MPQ scores,and the difference was statistically significant(P<0.05).(2)After treatment,the NDI scores of patients in the two groups were significantly improved(P<0.05),and the observation group was significantly superior to the control group in improving the NDI scores,and the difference was statistically significant(P<0.05).(3)After treatment,the cervical joint mobility of patients in the two groups was significantly improved(P<0.05),and the observation group was significantly superior to the control group in improving cervical joint mobility,with a statistically significant difference(P<0.05).(4)The total effective rate was 96.88%(31/32)in the observation group and 84.38%(27/32)in the control group.The efficacy of the observation group was superior to that of the control group,and the difference was statistically significant(P<0.05).Conclusion Filiform-heated needle stimulation on MTrPs based on the"pivot mechanism"theory significantly alleviates pain,improves soft tissue injury,and enhances neck-shoulder mobility in patients with neck-shoulder MPS,demonstrating remarkable clinical efficacy.
9.Construction of a Modern TCM Epidemic Diagnosis and Treatment System
Yingying YANG ; Jinli LUO ; Qingwei LI ; Chuanxi TIAN ; Qiang WANG ; Han WANG ; Linhua ZHAO ; Xiaolin TONG
Journal of Nanjing University of Traditional Chinese Medicine 2025;41(11):1407-1413
Traditional Chinese medicine(TCM)has rich experience in the diagnosis and treatment of epidemics,but the basic con-cepts and diagnosis and treatment strategies of TCM for epidemics have not yet formed a common understanding.This paper preliminar-ily constructs a diagnosis and treatment system of TCM epidemics from the perspective of"type differentiation-stage differentiation-syndrome differentiation"by combing the basic concepts of the etiology,pathogenesis,and identification of epidemics,taking state-target differentiation and treatment as the general principle.First,the epidemics are divided into five types:cold epidemics,warm epi-demics,cold-damp epidemics,damp epidemics,and miscellaneous epidemics;then,according to the overall course of the epidemics,they are divided into four stages:"initial stage-peak stage-extreme stage-relapse stage",the initial stage is the stage of exterior syn-dromes,the peak stage is the stage of heat peak,the extreme stage is the stage of internal closure and external loss,and the relapse stage is the stage of recovery of the healthy qi and retreat of the evil qi;finally,on the basis of staging,combined with the syndrome char-acteristics of various epidemics(five types of background diseases)at different stages,the syndromes are divided demonstratively.Through the construction of a modern diagnosis and treatment system of TCM epidemics,the basic theoretical concepts and basic diag-nosis and treatment strategies of epidemics can be clarified,various new and emerging infectious diseases can be actively responded to,and a diagnosis and treatment plan for a new and emerging infectious disease can be quickly constructed.
10.Study on the distribution of FMR1 CGG repeat numbers among 16 610 women of childbearing age in China
Yahui SHEN ; Wei HOU ; Xiaolin FU ; Manli ZHANG ; Xiaoxiao XIE ; Chunyan ZHANG ; Jiaxin BIAN ; Xiao MAO ; Juan WEN ; Chunyu LUO ; Hua JIN ; Qian ZHU ; Qingwei QI ; Yeqing QIAN ; Jing YUAN ; Yanyan ZHAO ; Ailan YIN ; Shutie LI ; Yulin JIANG ; Rui XIAO ; Yanping LU
Chinese Journal of Reproduction and Contraception 2025;45(4):398-402
Objective:To investigate the distribution of CGG repeat numbers in the FMR1 gene among reproductive-age women in China, providing data reference for carrier screening and genetic counseling of Fragile X syndrome. Methods:This cross-sectional study recruited 16 610 reproductive-age women from 12 medical institutions between July 2022 and October 2023. Peripheral venous blood samples (3 mL) were collected, and genomic DNA was extracted. The number of CGG repeats in the FMR1 gene was determined using the triplet-primed polymerase chain reaction (TP-PCR) combined with capillary electrophoresis technology. Statistical analyses were performed to assess the prevalence and distribution of CGG repeat expansions. Results:Among 16 610 women of childbearing age, 5 684 (34.220%) women had the same number of CGG repeats in the two alleles of FMR1 gene, and 10 926 (65.780%) women had different numbers of repeats in the two alleles. Among the 33 220 FMR1 alleles in 16 610 women of reproductive age, the most common CGG repeat numbers were 29 [48.645% (16 160/33 220)] and 30 [26.276% (8 729/33 220)], while the most frequent CGG genotype was CGG 29/29 [24.726% (4 107/16 610)]. The CGG repeat numbers of FMR1 gene were normal in 16 498 women (99.326%). Among the 112 women (0.674%) with CGG repeat abnormities, 96 (0.578%) women were classified as intermediate carriers, 15 (0.090%) as premutation carriers, and 1 (0.006%) as a full mutation carrier, whose CGG genotype was (36, >200). Conclusion:In the general reproductive-age female population in China, the normal CGG repeat numbers of the FMR1 gene account for 99.326%, while the intermediate carrier rate is 0.578%, and the combined carrier rate of the premutation and full mutation types is 0.096%.

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