1.Traditional Chinese Medicine Regulates AMPK Signaling Pathway to Prevent and Treat Non-alcoholic Fatty Liver Disease: A Review
Lijuan DAN ; Shuanglan CHEN ; Tianyuan WANG ; Xiaojie YOU ; Xiuyan LI ; Hongfei SONG ; Dong WANG ; Jie MU ; Qiao LI
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(14):133-143
Non-alcoholic fatty liver disease (NAFLD) is one of the most prevalent forms of liver diseases globally. Its progression can lead to cirrhosis and end-stage liver disease, and there is currently a lack of effective pharmacological treatments. Adenosine monophosphate-activated protein kinase (AMPK), as a regulatory hub for maintaining cellular energy homeostasis, can coordinate key cellular processes such as adipogenesis, glucose metabolism, and mitochondrial functions. Its activation exerts metabolic regulatory effects through pathways including inhibiting lipogenesis, enhancing mitochondrial β-oxidation, regulating inflammation and oxidative stress, and promoting autophagy. Accordingly, AMPK emerges as a potential target for the prevention and treatment of NAFLD. Traditional Chinese Medicine (TCM), with low toxicity, high accessibility, and multi-component, multi-target synergistic effects, has demonstrated unique value in NAFLD treatment, particularly showing notable advantages in regulating the AMPK signaling pathway. Sichuan is known as the treasure house of TCM, and the active components of its authentic medicinal materials such as Coptidis Rhizoma not only reflect regional characteristics in AMPK signaling regulation but also form a multi-level metabolic regulatory network through crosstalk with pathways such as sirtuin 1 (SIRT1) and peroxisome proliferator-activated receptor α (PPARα). They can achieve specific regulation by directly activating AMPK and modulating upstream and downstream targets, exerting prominent effects in ameliorating hepatic steatosis and inflammation. This study systematically reviews the research findings on TCM for the prevention and treatment of NAFLD over the past five years, elaborating the mechanisms by which TCM treats NAFLD through regulating the AMPK signaling pathway. It aims to provide new perspectives and references for clinical diagnosis and treatment, basic research, and drug development.
2.Application of cross bar technique in repair of pectus excavatum
Tianjun ZHOU ; Dan TIAN ; Ruiqing SHI ; Zihao ZHOU ; Jiming TANG ; Dongkun ZHANG ; Xiaosong BEN ; Guibin QIAO ; Gang CHEN ; Liang XIE
Chinese Journal of Clinical Thoracic and Cardiovascular Surgery 2025;32(11):1572-1578
Objective To explore the indication, surgical technique, and clinical efficacy of the cross bar based on the Nuss procedure in pectus excavatum. Methods The clinical data of patients who underwent cross bar based on the Nuss procedure from August 2023 to August 2024 in Guangdong Provincial People's Hospital were retrospectively analyzed. Results A total of 88 patients including 85 males and 3 females with a mean age of (17.56±5.20) years were enrolled. All operations were performed successfully without intraoperative cardiac injury, pericardial injury or diaphragmatic injury. The mean operation time was (147.65±47.75) min. The mean blood loss was (13.30±9.06) mL. The mean postoperative hospitalization stay was (4.81±1.55) days, without perioperative death. Six (6.82%) patients developed early postoperative complications, including 3 patients of pleural effusion, 1 patient of subcutaneous hematoma, 1 patient of suffocation and 1 patient of bar rotation. The postoperative outcomes were excellent in 71 (80.68%) patients, good in 16 (18.18%) patients and moderate in 1 (1.13%) patient. The excellent and good rate was 98.86%. Conclusion The cross bar technique is safe and convenient, with satisfactory results. It is worth promoting in clinical application.
3.Factor analysis of job training needs and construction of a training model based on "P4 medicine" for medical staff in military rest homes and sanatoriums
Yi WANG ; Wei ZENG ; Qiao DU ; Tao HE ; Yu YANG ; Dan TAN
Chinese Journal of Medical Education Research 2025;24(10):1327-1334
Objective:To explore a factor analysis method for job training needs based on "P4 medicine", and to provide evidence-based support for optimizing continuing education systems for medical staff in military rest homes and sanatoriums.Methods:A cross-sectional study was conducted with 95 medical staff from military rest homes and sanatoriums within the support system who participated in job training at Xinqiao Hospital. A structured questionnaire was developed based on the "P4 medicine" framework. After two rounds of Delphi expert consultation, 46 core indicators were selected. A principal component analysis was used to extract common factors, and a model of hierarchical needs was constructed by combining varimax rotation and entropy weight methods.Results:Four common factors were extracted, accounting for 81.564% cumulative variance. The first factor "dynamic updating of geriatric medical knowledge" (31.83%) covered clinical core competencies in managing geriatric comorbidities and recognizing critical values. The second factor "emergency responsiveness and personalized care" (26.05%) focused on military medical regulations, emergency treatment protocols, and tailored interventions. The third factor "multidisciplinary collaboration and leadership development" (12.41%) emphasized team reorganization in combat-ready scenarios. The fourth factor "integration of intelligent technologies" (11.29%) reflected data-driven decision-making needs. Entropy weight analysis highlighted dynamic medical knowledge updates (e.g., emergency skills with a weight of 0.050) and AI applications with a weight of 0.019 among the top 10% high-weight indicators.Conclusions:The "P4 medicine" effectively delineates the multidimensional training needs of grassroots medical personnel. Its four-dimensional structure (predictive, normative, collaborative, and innovative) provides a theoretical framework for curriculum design. We recommend constructing tiered training modules prioritizing technology-enabled mechanisms to enhance the precision and sustainability of geriatric healthcare services.
4.National bloodstream infection bacterial resistance surveillance report 2023: Gram-positive bacteria
Chaoqun YING ; Jinru JI ; Zhiying LIU ; Qing YANG ; Haishen KONG ; Jiangqin SONG ; Hui DING ; Yanyan LI ; Yuanyuan DAI ; Haifeng MAO ; Pengpeng TIAN ; Lu WANG ; Yongyun LIU ; Yizheng ZHOU ; Jiliang WANG ; Yan JIN ; Donghong HUANG ; Hongyun XU ; Peng ZHANG ; Xinhua QIANG ; Hong HE ; Lin ZHENG ; Junmin CAO ; Zhou LIU ; Ying HUANG ; Yan GENG ; Haiquan KANG ; Dan LIU ; Guolin LIAO ; Lixia ZHANG ; Fenghong CHEN ; Yanhong LI ; Baohua ZHANG ; Haixin DONG ; Xiaoyan LI ; Donghua LIU ; Qiuying ZHANG ; Xuefei HU ; Liang GUO ; Sijin MAN ; Dijing SONG ; Rong XU ; Youdong YIN ; Kunpeng LIANG ; Aiyun LI ; Zhuo LI ; Hongxia HU ; Guoping LU ; Jinhua LIANG ; Qiang LIU ; Yinqiao DONG ; Jilu SHEN ; Shuyan HU ; Liang LUAN ; Jian LI ; Ling MENG ; Dengyan QIAO ; Xiusan XIA ; Bo QUAN ; Dahong WANG ; Chunhua HAN ; Xiaoping YAN ; Fei LI ; Shifu WANG ; Ping SHEN ; Yunbo CHEN ; Yonghong XIAO
Chinese Journal of Clinical Infectious Diseases 2025;18(2):118-132
Objective:To report the nationwide surveillance results of pathogenic profiles and antimicrobial resistance patterns of Gram-positive bloodstream infections in China in 2023.Methods:The clinical isolates of Gram-posttive bacteria from blood cultures were collected in member hospitals of National Bloodstream Infection Bacterial Resistant Investigation Collaborative System(BRICS)during January to December 2023. Antimicrobial susceptibility testing was performed using the dilution method recommended by the Clinical and Laboratory Standards Institute(CLSI). Statistical analyses were conducted using WHONET 5.6 and SPSS 25.0 software.Results:A total of 4 385 Gram-positive bacterial isolates were obtained from 60 participating center. The top five pathogens were Staphylococcus aureus( n=1 544,35.2%),coagulase-negative Staphylococci( n=1 441,32.9%), Enterococcus faecium( n=574,13.1%), Enterococcus faecalis( n=385,8.8%),and α-hemolytic Streptococci( n=187,4.3%). The prevalence of methicillin-resistant Staphylococcus aureus(MRSA)and methicillin-resistant coagulase-negative Staphylococci(MRCNS)was 26.2%(405/1 544)and 69.8%(1 006/1 441),respectively. Notably,all Staphylococci remained susceptible to glycopeptide or daptomycin. Staphylococcus aureus demonstrated excellent susceptibility(>97.0%)to cephalobiol,rifampicin,trimethoprim-sulfamethoxazole,linezolid,minocycline,tigecycline,and eravacycline. No Enterococcus exhibiting resistance to linezolid were detected. Glycopeptide resistance was uncommon but more frequent in Enterococcus faecium(resistance to vancomycin and teicoplanin:both 1.7%)compared to Enterococcus faecalis(both 0.3%). The detection rates of MRSA and MRCNS exhibited significant regional variations across the country( χ2=17.674 and 148.650,respectively,both P<0.001). No vancomycin-resistant Enterococci were detected in central China. Institutional comparison demonstrated higher prevalence of MRSA( χ2=14.111, P<0.001)and MRCNS( χ2=4.828, P=0.028)in provincial hospitals than that in municipal hospitals. Socioeconomic analysis identified elevated detection rates of both MRSA( χ2=18.986, P<0.001)and MRCNS( χ2=4.477, P=0.034)in less developed regions(per capita GDP
5.National bloodstream infection bacterial resistance surveillance report (2023) : Gram-negative bacteria
Jinru JI ; Zhiying LIU ; Chaoqun YING ; Qing YANG ; Haishen KONG ; Jiangqin SONG ; Hui DING ; Yanyan LI ; Yuanyuan DAI ; Haifeng MAO ; Pengpeng TIAN ; Lu WANG ; Yongyun LIU ; Yizheng ZHOU ; Jiliang WANG ; Yan JIN ; Donghong HUANG ; Hongyun XU ; Peng ZHANG ; Xinhua QIANG ; Hong HE ; Lin ZHENG ; Junmin CAO ; Zhou LIU ; Ying HUANG ; Yan GENG ; Haiquan KANG ; Dan LIU ; Guolin LIAO ; Lixia ZHANG ; Fenghong CHEN ; Yanhong LI ; Baohua ZHANG ; Haixin DONG ; Xiaoyan LI ; Donghua LIU ; Qiuying ZHANG ; Xuefei HU ; Liang GUO ; Sijin MAN ; Dijing SONG ; Rong XU ; Youdong YIN ; Kunpeng LIANG ; Aiyun LI ; Zhuo LI ; Hongxia HU ; Guoping LU ; Jinhua LIANG ; Qiang LIU ; Yinqiao DONG ; Jilu SHEN ; Shuyan HU ; Liang LUAN ; Jian LI ; Ling MENG ; Dengyan QIAO ; Xiusan XIA ; Bo QUAN ; Dahong WANG ; Chunhua HAN ; Xiaoping YAN ; Fei LI ; Shifu WANG ; Ping SHEN ; Yunbo CHEN ; Yonghong XIAO
Chinese Journal of Clinical Infectious Diseases 2025;18(1):47-62
Objective:To report the results of bacterial resistant investigation collaborative system(BRICS)on the distribution and antimicrobial resistance profile of clinical Gram-negative bacteria isolates from bloodstream infections in China in 2023,and provide reference for clinical tretment of bloodstream infections and prevention and control of bacterial resistance.Methods:The clinical isolates of Gram-negative bacteria from blood cultures in member hospitals of BRICS were collected during January 2023 to December 2023. Antibiotic susceptibility tests were conducted by agar dilution or broth dilution methods recommended by Clinical and Laboratory Standards Institute(CLSI). WHONET 5.6 and SPSS 25.0 were used to analyze the data.Results:During the study period,11 492 strains of Gram-negative bacteria were collected from 60 hospitals,of which 10 098(87.9%)were Enterobacterales and 1 394(12.1%)were non-fermentative bacteria. The top 5 bacterial species were Escherichia coli(50.0%), Klebsiella pneumoniae(26.1%), Pseudomonas aeruginosa(5.1%), Acinetobacter baumannii complex(5.0%)and Enterobacter cloacae complex(4.1%). The ESBL-producing rates in Escherichia coli, Klebsiella pneumoniae and Proteus mirablilis were 46.8%(2 685/5 741),18.3%(549/2 999)and 44.0%(77/175),respectively. The prevalence of carbapenem-resistant Escherichia coli(CREC)and carbapenem-resistant Klebsiella pneumoniae(CRKP)were 1.3%(76/5 741)and 15.0%(450/2 999);32.9%(25/76)and 78.0%(351/450)of CREC and CRKP were sensitive to ceftazidime/avibactam combination,respectively. 94.7%(72/76)and 90.2%(406/450)of CREC and CRKP were sensitive to aztreonam/avibactam combination. Furthermore,57.9%(44/76)and 79.1%(356/450)were sensitive to imipenem/relebactam combination. The prevalence of carbapenem-resistant Acinetobacter baumannii(CRAB)complex was 64.6%(370/573),while more than 80.0% of CRAB complex was sensitive to tigecycline,eravacycline and polymyxin B. The prevalence of carbapenem-resistant Pseudomonas aeruginosa(CRPA)was 17.0%(99/581). There were differences in the composition ratio of Gram-negative bacteria in bloodstream infections and the prevalence of important Gram-negative bacteria resistance among different regions in China,with statistically significant differences in the prevalence of CREC,CRKP,CRPA and CRAB complex( χ2=10.6,28.6,10.8 and 19.3, P<0.05). The prevalence of ESBL-producing Escherichia coli, CREC,CRAB complex and CRKP were higher in provincial hospitals than those in municipal hospitals( χ2=12.5,9.8,12.7 and 57.8,all P<0.01). Conclusions:Gram-negative bacteria are the main pathogens causing bloodstream infections in China,and Escherichia coli is ranked in the top,while the trend of Klebsiella pneumoniae increases continuously with time. CRKP infection shows a slow upward trend,CREC infecton maintains a low prevalence level,and CRAB complex infection continues to exhibit a high prevalence rate. The composition and resistance patterns of pathogens causing bloodstream infections vary to some extent across different regions and levels of hospitals in China.
6.Imaging factors affecting early prognosis of syrinx after posterior fossa decompression surgery for Chiari malformation type Ⅰ combined with syringomyelia
Dan QIAO ; Jun YANG ; Yunfeng HAN
Chinese Journal of Spine and Spinal Cord 2025;35(4):342-349,365
Objectives:To investigate the imaging factors influencing the early prognosis of syrinx in patients with Chiari malformation type Ⅰ(CM Ⅰ)and syringomyelia(SM)who underwent posterior fossa decompression(PFD).Methods:Clinical data of 60 patients with CM Ⅰ and SM treated in the Department of Neurosurgery of Peking University Third Hospital from March 2013 to November 2022 were analyzed retrospectively.There were 18 males and 42 females with an average age of 48.8±9.1(range,27-65)years old.All the patients un-derwent PFD.Imaging assessments were performed preoperatively by cervical spine MRI and X-ray,and pa-rameters were collected,including maximum anterior-posterior and transverse diameters of syrinx,spinal cord anterior-posterior diameter,longitudinal distances of bulbo-pontine sulcus,fourth ventricle and cerebellar ton-sil,length of McRae line,length of clivus,clivus-canal angle,C0-C2 and C2-C7 Cobb angles as well as cervical sagittal vertical axis.The maximum syrinx/cord ratio and maximum syrinx area were calculated.With-in 1 month postoperatively,the maximum anterior-posterior diameter of syrinx was measured again by cervical spine MRI and its change rate was calculated to evaluate the early prognosis of syrinx.The patients were di-vided into improved(the change rate≥20%)and unimproved(the change rate<20%)groups.The imaging find-ings were compared between the two groups,and a multi-variate logistic regression analysis was employed to identify significant predictors.Results:All the patients were followed up for 12.2±7.1d(range,5-31d).After PFD surgery,24 cases were improved in syrinx(the improved group),while 36 cases were not improved(the u-nimproved group).Age and gender were not significantly different between the two groups(P>0.05).Postopera-tively,there were 2 cases with fever,2 cases with transient occipital pain,4 cases with CSF leakage,1 case with poor incision healing,and there was no significant difference of overall complication ratio between the two groups(P>0.05).The clivus-canal angle and cervical sagittal vertical axis of CM Ⅰ patients in improved group(153.47°±9.99°,22.10±11.10mm)were significantly greater than those of unimproved patients(147.98°±9.55°,15.83±9.00mm)(P<0.05).The maximum transverse diameter of syrinx in improved group(8.34±3.20mm)was significantly smaller than that of unimproved group(10.36±3.71mm,P<0.05).No significant differences were found in other preoperative imaging parameters(P>0.05).The multi-variate logisitic analysis revealed that the maximum transverse diameter of syrinx before operation was a risk factor of syrinx size reduction(OR=1.281,95%CI 1.042-1.576,P<0.05),while the offset distance of cervical sagittal vertical axis acted as a protective factor of syrinx size reduction(OR=0.916,95%CI 0.853-0.984,P<0.05).Conclusions:In patients with CM Ⅰand SM,preoperative maximum transverse diameter of syrinx and offset distance of cervical sagittal vertical axis are independent influencing factors for early postoperative prognosis of syrinx.
7.Clinical research progress of non-small cell lung cancer harboring EGFR gene exon 20 insertion mutation
Ping QI ; Xiaoming HOU ; Jinghua LI ; Dan DU ; Longxia ZHANG ; Hui QIAO
Tumor 2025;45(2):191-201
Epidermal growth factor receptor(EGFR)gene exon 20 insertion(ex20ins)mutation is a common driver gene activation mutation in non-small cell lung cancer(NSCLC).Tumors harboring this gene mutation are characterized by high heterogeneity,high malignancy,low detectability,poor response to conventional therapies,and poor prognosis.In recent years,significant progress has been made in the study of EGFR ex20ins mutation.The wide application of next-generation sequencing has improved the detection rate.The U.S.Food and Drug Administration(FDA)has approved the relevant indications of amivantamab in NSCLC patients with EGFR ex20ins mutation.A variety of new drugs have also achieved good results in previous studies.This article will summarize the structural characteristics,detection methods and clinical treatment progress of NSCLC patients with EGFR ex20ins mutations,hoping to provide help for the choice of clinical treatment for such patients.
8.Feasibility and exploration of optimal communication models for robot-assisted urological telesurgery: a multicenter, single-arm, retrospective study
Ye WANG ; Taoping SHI ; Sheng TAI ; Sunyi YE ; Yubai ZHANG ; Bingzhang QIAO ; Chenfeng WANG ; Gen CHENG ; Zhi LI ; Qing AI ; Qingbo HUANG ; Baojun WANG ; Qing YUAN ; Junnan XU ; Guojun LIU ; Yu CHEN ; Wuyi ZHAO ; Jianle MAO ; Shiwei LI ; Shuo WANG ; Dan XIA ; Wanhai XU ; Chaozhao LIANG ; Hongzhao LI ; Xin MA ; Xu ZHANG
Chinese Journal of Urology 2025;46(5):331-336
Objective:To evaluate the efficacy and feasibility of a domestically developed robotic surgical system based on fiber-optic dedicated line communication in cross-regional urological telesurgery.Methods:This was multicenter,single-arm,retrospective case series study. The data of patients who underwent urological telesurgeries using the telesurgical system between January 2023 and December 2024 were analyzed. The cohort included 59 patients from seven hospitals across China. Among the patients,47 were male(79.7%)and 12 were female(20.3%),with a median age of 63.0(56.0,68.0)years and a body mass index of(24.7 ± 3.0)kg/m 2. Surgical procedures included 32 radical prostatectomies,24 partial nephrectomies,one radical nephrectomy,one adrenalectomy,and one ureteral reconstruction. The perioperative indicators,pathological results and postoperative complications were analyzed. The network monitoring data were collected,and the perioperative data of patients,remote system monitoring data and costs were compared between the two communication modes of optical transport network(OTN)and cloud-connect network(CCN). Results:All 59 remote surgeries were successfully completed,with a mean operative time of(138.0 ± 54.0)minutes,median intraoperative blood loss of 50.0(30.0,100.0)ml and a postoperative hospital stay of 5.0(4.0,6.0)days. No cases required reoperation,Clavien-Dindo grade ≥3 complications,or readmission. The geographical distance between the primary and remote surgical sites ranged from 450 to 2 800 km. Network monitoring revealed increased bidirectional latency with distance increasing:the shortest latency time(Hefei-Hangzhou,450 km)was(16.59 ± 0.80)ms,while the longest(Harbin-Hangzhou,2 200 km)latency time was(53.31 ± 0.31)ms. Average frame loss per procedure was 0?1.27 frames. The results of subgroup analysis comparing OTN and CCN communication modes showed no significant differences in operative time[(130.7 ± 70.5)minutes vs.(142.1 ± 42.9)minutes, P = 0.442],postoperative hospitalization[6.0(4.0,8.0)d vs. 5.0(4.0,6.0)d, P = 0.581],or readmission rates(0 vs. 0). However,CCN demonstrated significant cost advantages with 500 RMB per operation vs. 3 000 RMB per operation for OTN. Conclusions:Urological telesurgery using fiber-optic communication is feasible. The CCN mode,with its cost-effectiveness,excellent usability,and multi-point interconnection flexibility,is currently the preferred communication model for telesurgical applications.
9.Remazolam alleviates brain injury in rat models with traumatic brain injury
Dan QIAO ; Dongya WANG ; Weijia CHEN ; Yifan XUE ; Wei LI ; Bofeng LIU
Basic & Clinical Medicine 2025;45(9):1173-1177
Objective To explore the neuro-protective effect of remimazolam(Rem)on traumatic brain injury(TBI)in rat models.Methods A TBI rat model was constructed.The rats were randomly divided into control group,traumatic brain injury group(TBI group),low-dose and high-dose remimazolam groups(Rem-L,Rem-H groups),and high-dose remimazolam+Jagged1 group(Rem-H+Jagged1 group),with 12 rats in each.All rats were evaluated for neurological deficits.The serum level of inflammatory factors like tumor necrosis factor α(TNF-α)and interleukin-1β(IL-1β)were detected by ELISA.HE staining microscopy was used to observe the changes of brain histopathology.The expression of glial fibrillary acidic protein(GFAP)and ionized calcium-binding adaptation molecule 1(IBA1)were detected by immunohistochemistry.Western blot was applied to detect the ex-pression of Notch,Notch 1 intracellular domain(NICD)and Hes-1 protein in the brain tissue.Results Compared with the control group,the TBI group showed a larger area of brain tissue defect and edema,with more activated glial cells and fragmented,concentrated and deeply stained neuronal nuclei,indistinct nucleoli,deeply stained cy-toplasm,and partial neuronal necrosis The neurological deficit score was higher,level of TNF-α and IL-1β and the expression of GFAP,IBA1,Notch,NICD,and Hes-1 all elevated(P<0.05).Remazolam reduced brain tissue defect area,alleviated edema,inhibited glial cell activation and neuronal apoptosis,and reduced nerve function deficit score,the level of TNF-α and IL-1β,and the expression of GFAP,IBA1,Notch,NICD and Hes-1(P<0.05).Jagged1 could aggravate brain tissue injury,increase neural function deficit score,levels of TNF-α and IL-1β and expressions of GFAP,IBA1,Notch,NICD and Hes-1(P<0.05).Conclusions Remimazolam may have neuroprotective effects as shown by TBI rat models,and the underlying mechanism is potentially related to the inhibition of the Notch/Hes-1 signaling pathway.
10.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
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Infant, Newborn
;
Glucosephosphate Dehydrogenase Deficiency/epidemiology*
;
Glucosephosphate Dehydrogenase/genetics*
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Female
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Male
;
Mutation
;
China/epidemiology*

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