1.Consistent Detection of Aquaporin-4 Antibodies:A Comparative Analysis Between Fixed and Live Cell-Based Assays
Jing WANG ; Linge WANG ; Xiaolin YANG ; Zhizhong LI ; Jinyu JIANG ; Qiao XU ; Siyuan HUANG ; Qing FU ; Yang YANG ; Rongrong ZHANG ; Lin YANG ; Ai CHEN ; Xiaopeng ZENG ; Ke XU ; Peng ZHENG ; Xinyue QIN ; Jinzhou FENG
Journal of Clinical Neurology 2026;22(2):212-220
Background:
and Purpose Live cell-based assays (LCBA) are increasingly used for serological antibody detection due to their ability to preserve antigen conformation, offering moderately higher sensitivity than fixed cell-based assays. However, the clinical necessity of prioritizing LCBA for the detection of aquaporin-4 immunoglobulin G (AQP4-IgG) in neuromyelitis optica spectrum disorder (NMOSD) remains unclear, especially when compared to its established role in diagnosing myelin oligodendrocyte glycoprotein antibody-associated disease.
Methods:
We compared the performance of live cell-based assays using immunofluorescence (LCBA-IF) and fixed cell-based assays using immunofluorescence (FCBA-IF) in detecting AQP4-IgG in 90 cases of NMOSD meeting 2015 International Panel for Neuromyelitis Optica Diagnosis criteria, alongside 40 controls. Additionally, we further investigated the relationship between AQP4-IgG titers as measured by LCBA-IF and FCBA-IF and clinical parameters in NMOSD patients.
Results:
Results showed 96.9% agreement between LCBA-IF and FCBA-IF (Cohen’s κ=0.935), with a strong Spearman correlation (0.977, p<0.001). Both methods demonstrated 100% specificity, with LCBA-IF showing slightly higher sensitivity compared to FCBA-IF. Within LCBAIF-tested groups, statistically significant differences in annualized relapse rates were observed across all pairwise comparisons (low-titer vs. moderate-titer, low-titer vs. high-titer, and moderate-titer vs. high-titer; all p<0.050). However, this association reached statistical significance in some FCBA-IF-tested groups.
Conclusions
Overall, there is a strong concordance between LCBA-IF and FCBA-IF in detecting AQP4-IgG, where LCBA-IF shows slightly higher sensitivity. Furthermore, there is a potential link between elevated AQP4-IgG titers and an increased risk of relapse, and this correlation may appear more pronounced when using LCBA-IF.
2.Risk factors and assessment model construction of nocturnal hypoxemia in patients with obstructive sleep apnea
Xianlan LYU ; Jinxian LUO ; Qing FENG ; Hui CHEN ; Xiang WANG
Journal of Clinical Medicine in Practice 2025;29(18):111-116
Objective To explore the risk factors for nocturnal hypoxemia in patients with ob-structive sleep apnea(OSA)and construct an assessment model.Methods A total of 303 patients with OSA diagnosed by polysomnography(PSG)were selected as research objects.Based on PSG re-sults,they were divided into case group(171 patients with hypoxemia)and control group(132 pa-tients without hypoxemia).Materials were compared between the two groups;multivariable Logistic re-gression analysis was used to screen risk factors for nocturnal hypoxemia in OSA patients and construct a risk assessment model.Value of the model was evaluated by the area under the curve(AUC)of the receiver operating characteristic(ROC)curve and K-fold cross-validation.Results The case group had significantly higher values in age,body mass index(BMI),neck circumference,proportion of smokers,hemoglobin,red cell distribution width(RDW),apnea-hypopnea index(AHI),the longest apnea duration(LAD),snoring index,and percentage of apnea-hypopnea duration to total sleep time(AHT%)when compared to the control group(P<0.05).Logistic regression analysis showed that high BMI,high RDW,long LAD,and high AHT%were risk factors for nocturnal hypoxemia in OSA patients(P<0.05).AUC value(0.952)of the ROC curve of the assessment model constructed based on these factors was higher than the AUC values of BMI(0.833),RDW(0.780),LAD(0.866),and AHT%(0.898)alone.One hundred times of 10-fold cross-validation demonstrated that the assessment model had good generalization ability.Conclusion Nocturnal hypoxemia in OSA patients is associated with high BMI,high RDW,long LAD,and high AHT%.The model constructed based on these factors plays an important role in evaluating nocturnal hypoxemia in OSA patients.
3.Application of Holistic Nursing Model Based on Delphi in Patients with AMI
Yiming TANG ; Qing FENG ; Yu CHEN ; Jie YU ; Yiming LU ; Dan WANG
Journal of Kunming Medical University 2025;46(5):170-176
Objective To explore the application value of a holistic nursing model based on the Delphi method in patients with acute myocardial infarction(AMI).Methods A total of 110 AMI patients treated at Diqing Shangri-La People's Hospital in Yunnan Province from January 2019 to January 2020 were enrolled and divided into a control group and an observation group,with 55 patients in each,based on their admission order.The control group received routine nursing care,while the observation group received holistic nursing model intervention based on Delphi in addition to the routine nursing care.After 6 months of nursing,the left ventricular end-diastolic volume(LVEDV),left ventricular end-systolic volume(LVESV),left ventricular ejection fraction(LVEF),general self-efficacy scale(GSES)score,complications,and changes in nursing satisfaction were compared and analyzed between the two groups.Results(1)After nursing,the LVEF significantly increased and the LVEDV and LVESV significantly decreased in both groups;the increase in LVEF was more significant,and the decrease in LVEDV and LVESV was more pronounced in the observation group(P<0.05);(2)The GSES scores of patients in both groups improved compared to before nursing,with a more significant improvement in the observation group(P<0.05);(3)The incidence of adverse events during hospitalization was lower in the observation group than in the control group(P<0.05);(4)The satisfaction rate was higher in the observation group than in the control group after nursing(P<0.05).Conclusion The application of a holistic nursing model based on Delphi in AMI patients can effectively improve cardiac function and self-management efficacy,reduce the incidence of complications,and enhance nursing satisfaction,demonstrating high feasibility.
4.Changing resistance profiles of Haemophilus influenzae and Moraxella catarrhalis isolates in hospitals across China:results from the CHINET Antimicrobial Resistance Surveillance Program,2015-2021
Hui FAN ; Chunhong SHAO ; Jia WANG ; Yang YANG ; Fupin HU ; Demei ZHU ; Yunsheng CHEN ; Qing MENG ; Hong ZHANG ; Chun WANG ; Fang DONG ; Wenqi SONG ; Kaizhen WEN ; Yirong ZHANG ; Chuanqing WANG ; Pan FU ; Chao ZHUO ; Danhong SU ; Jiangwei KE ; Shuping ZHOU ; Hua ZHANG ; Fangfang HU ; Mei KANG ; Chao HE ; Hua YU ; Xiangning HUANG ; Yingchun XU ; Xiaojiang ZHANG ; Wenen LIU ; Yanming LI ; Lei ZHU ; Jinhua MENG ; Shifu WANG ; Bin SHAN ; Yan DU ; Wei JIA ; Gang LI ; Jiao FENG ; Ping GONG ; Miao SONG ; Lianhua WEI ; Xin WANG ; Ruizhong WANG ; Hua FANG ; Sufang GUO ; Yanyan WANG ; Dawen GUO ; Jinying ZHAO ; Lixia ZHANG ; Juan MA ; Han SHEN ; Wanqing ZHOU ; Ruyi GUO ; Yan ZHU ; Jinsong WU ; Yuemei LU ; Yuxing NI ; Jingrong SUN ; Xiaobo MA ; Yanqing ZHENG ; Yunsong YU ; Jie LIN ; Ziyong SUN ; Zhongju CHEN ; Zhidong HU ; Jin LI ; Fengbo ZHANG ; Ping JI ; Yunjian HU ; Xiaoman AI ; Jinju DUAN ; Jianbang KANG ; Xuefei HU ; Xuesong XU ; Chao YAN ; Yi LI ; Shanmei WANG ; Hongqin GU ; Yuanhong XU ; Ying HUANG ; Yunzhuo CHU ; Sufei TIAN ; Jihong LI ; Bixia YU ; Cunshan KOU ; Jilu SHEN ; Wenhui HUANG ; Xiuli YANG ; Likang ZHU ; Lin JIANG ; Wen HE ; Chunlei YUE
Chinese Journal of Infection and Chemotherapy 2025;25(1):30-38
Objective To investigate the distribution and antimicrobial resistance profiles of clinically isolated Haemophilus influenzae and Moraxella catarrhalis in hospitals across China from 2015 to 2021,and provide evidence for rational use of antimicrobial agents.Methods Data of H.influenzae and M.catarrhalis strains isolated from 2015 to 2021 in CHINET program were collected for analysis,and antimicrobial susceptibility testing was performed by disc diffusion method or automated systems according to the uniform protocol of CHINET.The results were interpreted according to the CLSI breakpoints in 2022.Beta-lactamases was detected by using nitrocefin disk.Results From 2015 to 2021,a total of 43 642 strains of Haemophilus species were isolated,accounting for 2.91%of the total clinical isolates and 4.07%of Gram-negative bacteria in CHINET program.Among the 40 437 strains of H.influenzae,66.89%were isolated from children and 33.11%were isolated from adults.More than 90%of the H.influenzae strains were isolated from respiratory tract specimens.The prevalence of β-lactamase was 53.79%in H.influenzae strains.The H.influenzae strains isolated from children showed higher resistance rate than the strains isolated from adults.Overall,779 strains of H.influenzae did not produce β-lactamase but were resistant to ampicillin(BLNAR).Beta-lactamase-producing strains showed significantly higher resistance rates to these antimicrobial agents than the β-lactamase-nonproducing strains.Of the 16 191 M.catarrhalis strains,80.06%were isolated from children and 19.94%isolated from adults.M.catarrhalis strains were mostly susceptible to both amoxicillin-clavulanic acid and cefuroxime,evidenced by resistance rate lower than 2.0%.Conclusions The emergence of antibiotic-resistant H.influenzae due to β-lactamase production poses a challenge for clinical anti-infective treatment.Therefore,it is very important to implement antibiotic resistance surveillance for H.influenzae and guide rational antibiotic use.All local clinical microbiology laboratories should actively improve antibiotic susceptibility testing and strengthen antibiotic resistance surveillance for H.influenzae.
5.Changing distribution and antimicrobial resistance profiles of clinical isolates in children:results from the CHINET Antimicrobial Resistance Surveillance Program,2015-2021
Qing MENG ; Lintao ZHOU ; Yunsheng CHEN ; Yang YANG ; Fupin HU ; Demei ZHU ; Chuanqing WANG ; Aimin WANG ; Lei ZHU ; Jinhua MENG ; Hong ZHANG ; Chun WANG ; Fang DONG ; Zhiyong LÜ ; Shuping ZHOU ; Yan ZHOU ; Shifu WANG ; Fangfang HU ; Yingchun XU ; Xiaojiang ZHANG ; Zhaoxia ZHANG ; Ping JI ; Wei JIA ; Gang LI ; Kaizhen WEN ; Yirong ZHANG ; Yan JIN ; Chunhong SHAO ; Yong ZHAO ; Ping GONG ; Chao ZHUO ; Danhong SU ; Bin SHAN ; Yan DU ; Sufang GUO ; Jiao FENG ; Ziyong SUN ; Zhongju CHEN ; Wen'en LIU ; Yanming LI ; Xiaobo MA ; Yanping ZHENG ; Dawen GUO ; Jinying ZHAO ; Ruizhong WANG ; Hua FANG ; Lixia ZHANG ; Juan MA ; Jihong LI ; Zhidong HU ; Jin LI ; Yuxing NI ; Jingyong SUN ; Ruyi GUO ; Yan ZHU ; Yi XIE ; Mei KANG ; Yuanhong XU ; Ying HUANG ; Shanmei WANG ; Yafei CHU ; Hua YU ; Xiangning HUANG ; Lianhua WEI ; Fengmei ZOU ; Han SHEN ; Wanqing ZHOU ; Yunzhuo CHU ; Sufei TIAN ; Shunhong XUE ; Hongqin GU ; Xuesong XU ; Chao YAN ; Bixia YU ; Jinju DUAN ; Jianbang KANG ; Jiangshan LIU ; Xuefei HU ; Yunsong YU ; Jie LIN ; Yunjian HU ; Xiaoman AI ; Chunlei YUE ; Jinsong WU ; Yuemei LU
Chinese Journal of Infection and Chemotherapy 2025;25(1):48-58
Objective To understand the changing composition and antibiotic resistance of bacterial species in the clinical isolates from outpatient and emergency department(hereinafter referred to as outpatients)and inpatient children over time in various hospitals,and to provide laboratory evidence for rational antibiotic use.Methods The data on clinically isolated pathogenic bacteria and antimicrobial susceptibility of isolates from outpatients and inpatient children in the CHINET program from 2015 to 2021 were collected and analyzed.Results A total of 278 471 isolates were isolated from pediatric patients in the CHINET program from 2015 to 2021.About 17.1%of the strains were isolated from outpatients,primarily group A β-hemolytic Streptococcus,Escherichia coli,and Staphylococcus aureus.Most of the strains(82.9%)were isolated from inpatients,mainly SS.aureus,E.coli,and H.influenzae.The prevalence of methicillin-resistant S.aureus(MRSA)in outpatients(24.5%)was lower than that in inpatient children(31.5%).The MRSA isolates from outpatients showed lower resistance rates to the antibiotics tested than the strains isolated from inpatient children.The prevalence of vancomycin-resistant Enterococcus faecalis or E.faecium and penicillin-resistant S.pneumoniae was low in either outpatients or inpatient children.S.pneumoniae,β-hemolytic Streptococcus and S.viridans showed high resistance rates to erythromycin.The prevalence of erythromycin-resistant group A β-hemolytic Streptococcus was higher in outpatients than that in inpatient children.The prevalence of β-lactamase-producing H.influenzae showed an overall upward trend in children,but lower in outpatients(45.1%)than in inpatient children(59.4%).The prevalence of carbapenem-resistant Klebsiella pneumoniae(CRKpn),carbapenem-resistant Pseudomonas aeruginosa(CRPae)and carbapenem-resistant Acinetobacter baumannii(CRAba)was 14%,11.7%,47.8%in outpatients,but 24.2%,20.6%,and 52.8%in inpatient children,respectively.The prevalence of multidrug-resistant E.coli,K.pneumoniae,Proteus mirabilis,P.aeruginosa and A.baumannii strains was lower in outpatients than in inpatient children.The prevalence of fluoroquinolone-resistant E.coli,ESBLs-producing K.pneumoniae,ESBLs-producing P.mirabilis,carbapenem-resistant E.coli(CREco),CRKpn,and CRPae was lower in children in outpatients than in inpatient children,but the prevalence of CRAba in 2021 was higher than in inpatient children.Conclusions The distribution of clinical isolates from children is different between outpatients and inpatients.The prevalence of MRSA,ESBL,and CRO was higher in inpatient children than in outpatients.Antibiotics should be used rationally in clinical practice based on etiological diagnosis and antimicrobial susceptibility test results.Ongoing antimicrobial resistance surveillance and prevention and control of hospital infections are crucial to curbing bacterial resistance.
6.Surveillance of antimicrobial resistance in clinical isolates of Escherichia coli:results from the CHINET Antimicrobial Resistance Surveillance Program,2015-2021
Shanmei WANG ; Bing MA ; Yi LI ; Yang YANG ; Fupin HU ; Demei ZHU ; Yingchun XU ; Xiaojiang ZHANG ; Zhaoxia ZHANG ; Ping JI ; Yi XIE ; Mei KANG ; Chuanqing WANG ; Aimin WANG ; Yuanhong XU ; Ying HUANG ; Ziyong SUN ; Zhongju CHEN ; Yuxing NI ; Jingyong SUN ; Yunzhuo CHU ; Sufei TIAN ; Zhidong HU ; Jin LI ; Yunsong YU ; Jie LIN ; Bin SHAN ; Yan DU ; Sufang GUO ; Lianhua WEI ; Fengmei ZOU ; Hong ZHANG ; Chun WANG ; Yunjian HU ; Xiaoman AI ; Chao ZHUO ; Danhong SU ; Dawen GUO ; Jinying ZHAO ; Hua YU ; Xiangning HUANG ; Wen'en LIU ; Yanming LI ; Yan JIN ; Chunhong SHAO ; Xuesong XU ; Chao YAN ; Lixia ZHANG ; Juan MA ; Shuping ZHOU ; Yan ZHOU ; Lei ZHU ; Jinhua MENG ; Fang DONG ; Zhiyong LÜ ; Fangfang HU ; Han SHEN ; Wanqing ZHOU ; Wei JIA ; Gang LI ; Jinsong WU ; Yuemei LU ; Jihong LI ; Jinju DUAN ; Jianbang KANG ; Xiaobo MA ; Yanping ZHENG ; Ruyi GUO ; Yan ZHU ; Yunsheng CHEN ; Qing MENG ; Shifu WANG ; Xuefei HU ; Jilu SHEN ; Wenhui HUANG ; Ruizhong WANG ; Hua FANG ; Bixia YU ; Yong ZHAO ; Ping GONG ; Kaizhen WEN ; Yirong ZHANG ; Jiangshan LIU ; Longfeng LIAO ; Hongqin GU ; Lin JIANG ; Wen HE ; Shunhong XUE ; Jiao FENG ; Chunlei YUE
Chinese Journal of Infection and Chemotherapy 2025;25(1):39-47
Objective To investigate the changing antibiotic resistance profiles of E.coli isolated from patients in the 52 hospitals participating in the CHINET program from 2015 to 2021.Methods Antimicrobial susceptibility was tested for clinical isolates of E.coli according to the unified protocol of CHINET program.WHONET 5.6 and SPSS 20.0 software were used for data analysis.Results Atotal of 289 760 nonduplicate clinical strains ofE.coli were isolated from 2015 to 2021,mainly from urine samples(44.7±3.2)%.The proportion of E.coli strains isolated from urine samples was higher in females than in males(59.0%vs 29.5%).The proportion of E.coli strains isolated from respiratory tract and cerebrospinal fluid samples was significantly higher in children than in adults(16.7%vs 7.8%,0.8%vs 0.1%,both P<0.05).The isolates from internal medicine department accounted for the largest proportion(28.9±2.8)%with an increasing trend over years.Overall,the prevalence of ESBLs-producing E.coli and carbapenem resistant E.coli(CREco)was 55.9%and 1.8%,respectively during the 7-year period.The prevalence of ESBLs-producing E.coli was the highest in tertiary hospitals each year from 2015 to 2021 compared to secondary hospitals.The prevalence of CREco was higher in children's hospitals compared to secondary and tertiary hospitals each year from 2015 to 2021.The prevalence of ESBLs-producing E.coli in tertiary hospitals and children's hospitals and the prevalence of CREco in children's hospitals showed a decreasing trend over the 7-year period.The prevalence of CREco in secondary and tertiary hospitals increased slowly.Antibiotic resistance rates changed slowly from 2015 to 2021.Carbapenem drugs(imipenem,meropenem)were the most active drugs amongβ-lactams against E.coli(resistance rate≤2.1%).The resistance rates of E.coli to β-lactam/β-lactam inhibitor combinations(piperacillin-tazobactam,cefoperazone-sulbactam),aminoglycosides(amikacin),nitrofurantoin and fosfomycin(for urinary isolates only)were all less than 10%.The resistance rate of E.coli strains to antibiotics varied with the level of hospitals and the departments where the strains were isolated,especially for cefazolin and ciprofloxacin,to which the resistance rate of E.coli strains from children in non-ICU departments was significantly lower than that of the strains isolated from other departments(P<0.05).The E.coli isolates from ICU showed higher resistance rate to most antimicrobial agents tested(excluding tigecycline)than the strains isolated from other departments.The E.coli strains isolated from tertiary hospitals showed higher resistance rates to the antimicrobial agents tested(excluding tigecycline,polymyxin B,cefepime and carbapenems)than the strains from secondary hospitals and children's hospitals.Conclusions E.coli is an important pathogen causing clinical infection.More than half of the clinical isolates produced ESBL.The prevalence of CREco is increasing in secondary and tertiary hospitals over the 7-year period even though the overall prevalence is still low.This is an issue of concern.
7.Protective Effects of Low-Dose Irradiated Autologous Peripheral Blood Reinfusion on Radiation -Induced Leukopenia in Rats: An Experimental Study.
Gao-Feng HE ; Shuang GE ; Li-Ping SUN ; De-Qing WANG ; Yang YU
Journal of Experimental Hematology 2025;33(2):511-519
OBJECTIVE:
To investigate the effects of low-dose irradiated autologous peripheral blood reinfusion (LDIAPBR) on a rat model of radiation-induced leukopenia.
METHODS:
The rats were randomly divided into four groups. In the LDIAPBR group, LDIAPBR was performed 1 day before modeling (10% of the total circulating blood volume was withdrawn, irradiated with 100 mGy ex vivo, and completely reinfused). Meanwhile, the normal group and model group only underwent blood withdrawal and reinfusion of the same proportion without blood irradiation. Except for the normal group, all groups were subjected to 1 Gy X-ray whole-body irradiation to establish a radiation-induced leukopenia rat model. The positive drug group received subcutaneous injection of rhG-CSF after modeling. It was monitored that the general condition of the rats, peripheral blood cell counts, immune organ indices, bone marrow nucleated cell counts and viability, and the pathological analysis of bone marrow sections was conducted.
RESULTS:
The LDIAPBR group exhibited significant improvements in overall condition compared to the model group. Notably, compared with the model group, peripheral blood leukocyte and lymphocyte counts were markedly higher in the LDIAPBR group. Furthermore, there was a significant increase in both the number and viability of nucleated cells in the bone marrow. Pathological examination of bone marrow sections revealed increased nucleated cell density and reduced cavity area in the LDIAPBR group.
CONCLUSION
LDIAPBR can effectively improve hematological parameters and bone marrow hematopoietic function in a rat model of radiation-induced leukopenia, providing a new approach for the prevention and treatment of radiation-related injuries.
Animals
;
Leukopenia/prevention & control*
;
Rats
;
Blood Transfusion, Autologous
;
Whole-Body Irradiation
;
Radiation Injuries, Experimental/therapy*
8.Effects of Prognostic Nutritional Index and Systemic Inflammatory Response Index on Short-Term Efficacy and Prognosis in Patients with Peripheral T-Cell Lymphoma.
Zi-Qing HUANG ; Yan-Hui LI ; Bin LYU ; Xue-Jiao GU ; Ming-Xi TIAN ; Xin-Yi LI ; Yan ZHANG ; Xiao-Qian LI ; Ying WANG ; Feng ZHU
Journal of Experimental Hematology 2025;33(5):1350-1357
OBJECTIVE:
To investigate the predictive value of the prognostic nutritional index (PNI) and systemic inflammatory response index (SIRI) for short-term efficacy and prognosis in newly treated patients with peripheral T-cell lymphoma (PTCL).
METHODS:
The general data, laboratory indicators, disease stage and other clinical data of 91 newly treated PTCL patients admitted to the Affiliated Hospital of Xuzhou Medical University from January 2015 to December 2023 were retrospectively analyzed. The optimal cutoff values for PNI and SIRI were determined using receiver operating characteristic (ROC) curves, and the patients were stratified into groups based on these cutoffs to compare clinical features and short-term efficacy between the different groups. Kaplan-Meier method was used to plot survival curves, and univariate and multivariate analyses were performed to identify the factors affecting overall survival (OS).
RESULTS:
The optimal cutoff values for PNI and SIRI were 45.30 and 1.74×109/L, respectively. Patients in different PNI groups showed statistically significant differences in age, Ann Arbor stage, lactate dehydrogenase (LDH) level, international prognostic index (IPI), prognostic index for PTCL-not otherwise specified (PIT), pathological subtypes, and complete response (CR) rate (P < 0.05). PTCL patients in different SIRI groups exhibited significant differences in Ann Arbor stage, LDH level, IPI score, PIT score, and CR rate (P < 0.05). Logistic regression analysis showed that age ≥60 years old (OR =2.750), Ann Arbor stage Ⅲ-Ⅳ (OR =5.200), IPI score ≥2 (OR =7.650), low PNI (OR =3.296), and high SIRI (OR =3.130) were independent risk factors affecting treatment efficacy in PTCL patients (P < 0.05). Cox proportional hazards regression model analysis showed that low PNI and elevated β2-microglobulin (β2-MG) levels were independent risk factors affecting OS (P < 0.05).
CONCLUSION
PNI and SIRI have certain application value in evaluating short-term efficacy and prognosis in patients with PTCL. Compared with SIRI, PNI demonstrates greater predictive value for patient prognosis.
Humans
;
Prognosis
;
Lymphoma, T-Cell, Peripheral/therapy*
;
Retrospective Studies
;
Nutrition Assessment
;
Male
;
Female
;
Middle Aged
;
ROC Curve
;
Inflammation
9.Analysis of Gene Mutations Distribution and Enzyme Activity of G6PD Deficiency in Newborns in Guilin Region.
Dong-Mei YANG ; Guang-Li WANG ; Dong-Lang YU ; Dan ZENG ; Hai-Qing ZHENG ; Wen-Jun TANG ; Qiao FENG ; Kai LI ; Chun-Jiang ZHU
Journal of Experimental Hematology 2025;33(5):1405-1411
OBJECTIVE:
To analyze the distribution characteristics of glucose-6-phosphate-dehydrogenase (G6PD) mutations and their enzyme activity in newborns patients with G6PD deficiency in Guilin region.
METHODS:
From July 2022 to July 2024, umbilical cord blood samples from 4 554 newborns in Guilin were analyzed for G6PD mutations using fluorescence PCR melting curve analysis. Enzyme activity was detected in 4 467 cases using the rate assay.
RESULTS:
Among 4 467 newborns who underwent G6PD activity testing, 162 newborns (3.63%) were identified as G6PD-deficient, including 142 males (6.04%) and 20 females (0.94%), the prevalence of G6PD deficiency was significantly higher in males than in females (P < 0.001). Genetic analysis of 4 554 newborns detected G6PD mutations in 410 cases (9%), including 171 males (7.13%) and 239 females (11.09%), with a significantly higher mutation detection rate in females than in males (P < 0.001). A total of nine single mutations and four compound heterozygous mutations were identified. The most common mutations were c.1388G>A (33.66%), c.1376G>T (23.66%) and c.95A>G (16.34%). Among newborns who underwent both enzyme activity and genetic mutation testing, males with G6PD mutations had significantly lower enzyme activity than that of females with G6PD mutations(P < 0.001). Specifically, among newborns carrying the mutations c.1388G>A, c.1376G>T, c.95A>G, c.1024C>T or c.871G>A, males consistently exhibited lower enzymatic activity than females with the same mutations (P < 0.001). Furthermore, in male G6PD-deficient newborns, the enzyme activity levels in those carrying c.1388G>A, c.1376G>T, c.95A>G, c.1024C>T, or c.871G>A were lower than those in both the control group and the c.519C>T group (P < 0.05).
CONCLUSION
This study provides a comprehensive profile of G6PD deficiency incidence and mutation spectrum in the Guilin region. By analyzing enzyme activity and genetic mutation results, this study provides insights into potential intervention strategies and personalized management approaches for the prevention and treatment of neonatal G6PD deficiency in the region.
Humans
;
Infant, Newborn
;
Glucosephosphate Dehydrogenase Deficiency/epidemiology*
;
Glucosephosphate Dehydrogenase/genetics*
;
Female
;
Male
;
Mutation
;
China/epidemiology*
10.The Valvular Heart Disease-specific Age-adjusted Comorbidity Index (VHD-ACI) score in patients with moderate or severe valvular heart disease.
Mu-Rong XIE ; Bin ZHANG ; Yun-Qing YE ; Zhe LI ; Qing-Rong LIU ; Zhen-Yan ZHAO ; Jun-Xing LV ; De-Jing FENG ; Qing-Hao ZHAO ; Hai-Tong ZHANG ; Zhen-Ya DUAN ; Bin-Cheng WANG ; Shuai GUO ; Yan-Yan ZHAO ; Run-Lin GAO ; Hai-Yan XU ; Yong-Jian WU
Journal of Geriatric Cardiology 2025;22(9):759-774
BACKGROUND:
Based on the China-VHD database, this study sought to develop and validate a Valvular Heart Disease- specific Age-adjusted Comorbidity Index (VHD-ACI) for predicting mortality risk in patients with VHD.
METHODS & RESULTS:
The China-VHD study was a nationwide, multi-centre multi-centre cohort study enrolling 13,917 patients with moderate or severe VHD across 46 medical centres in China between April-June 2018. After excluding cases with missing key variables, 11,459 patients were retained for final analysis. The primary endpoint was 2-year all-cause mortality, with 941 deaths (10.0%) observed during follow-up. The VHD-ACI was derived after identifying 13 independent mortality predictors: cardiomyopathy, myocardial infarction, chronic obstructive pulmonary disease, pulmonary artery hypertension, low body weight, anaemia, hypoalbuminaemia, renal insufficiency, moderate/severe hepatic dysfunction, heart failure, cancer, NYHA functional class and age. The index exhibited good discrimination (AUC, 0.79) and calibration (Brier score, 0.062) in the total cohort, outperforming both EuroSCORE II and ACCI (P < 0.001 for comparison). Internal validation through 100 bootstrap iterations yielded a C statistic of 0.694 (95% CI: 0.665-0.723) for 2-year mortality prediction. VHD-ACI scores, as a continuous variable (VHD-ACI score: adjusted HR (95% CI): 1.263 (1.245-1.282), P < 0.001) or categorized using thresholds determined by the Yoden index (VHD-ACI ≥ 9 vs. < 9, adjusted HR (95% CI): 6.216 (5.378-7.184), P < 0.001), were independently associated with mortality. The prognostic performance remained consistent across all VHD subtypes (aortic stenosis, aortic regurgitation, mitral stenosis, mitral regurgitation, tricuspid valve disease, mixed aortic/mitral valve disease and multiple VHD), and clinical subgroups stratified by therapeutic strategy, LVEF status (preserved vs. reduced), disease severity and etiology.
CONCLUSION
The VHD-ACI is a simple 13-comorbidity algorithm for the prediction of mortality in VHD patients and providing a simple and rapid tool for risk stratification.

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