1.Accuracy and feasibility of non-invasive cell-free fetal DNA RhE blood group genotyping
Jinhua YANG ; Daoju REN ; Xiaowei LI ; Jun XIAO ; Jiangzhou YOU ; Chunyue CHEN ; Xiaojuan ZHANG ; Cuiying LI
Chinese Journal of Blood Transfusion 2025;38(3):368-374
[Objective] To explore the accuracy and feasibility of non-invasive prenatal diagnosis of fetal RhE genotype using cell-free fetal DNA (cff-DNA) from maternal peripheral blood. [Methods] A total of 134 pregnant women with single fetuses and RhE-negative blood group were selected from our hospital from November 2023 to August 2024. Free DNA extraction kit was used to extract free DNA from peripheral blood of pregnant women, and the RhE blood group genotype of free DNA was detected by real-time fluorescent quantitative PCR (RT-qPCR). If the qPCR amplification signal of the sample was negative, the methylated RASSF1A gene was amplified, and the positive amplification result was used as a sign of successful extraction of cff-DNA. Serological microcolumn gel method was used to detect the phenotype of RhE blood group in neonatal peripheral blood. [Results] Among the 134 maternal peripheral blood samples, the cff-DNA detection of RhE blood group phenotypes was consistent with the RhE blood group genotyping of neonatal peripheral blood in 133 cases, including 90 cases of Rhee genotype and 43 cases of RhE genotype, with diagnostic concordance rate of 99.3%, sensitivity of 97.7%, specificity of 100%, youden index of 0.977, area under ROC curve of 0.995, the Kappa value of 0.983, positive predictive value of 100%, and negative predictive value of 98.9%. The sample of 1 case failed to be detected. After the amplification of methylated RASSFIA gene, it was confirmed that the reason for the failure was that no cff-DNA was extracted from the sample. The diagnostic concordance rates of the first, second and third trimesters were 93.8% (15/16), 100% (51/51) and 100% (67/67), respectively. Fisher's exact test method was used to calculate the P value, which was P>0.05, indicating that there was no statistical significance in the difference of diagnostic concordance rate among the three pregnancy periods, and there was no difference in the detection concordance rate of this method in different pregnancy periods. [Conclusion] The use of cff-DNA in maternal peripheral blood for the detection of fetal RhE blood group genotype is an accurate and highly feasible non-invasive prenatal diagnostic method, which is helpful for the clinical diagnosis of fetal and neonatal hemolytic disease caused by anti-E antibody.
2.Rh blood group phenotype distribution in some ethnic groups in China: a meta-analysis
Junyi CHEN ; Mengdan SONG ; Jin MA ; Yongyi YANG ; Xiaojuan LI
Chinese Journal of Blood Transfusion 2025;38(4):562-571
[Objective] To analyze the distribution of Rh blood group phenotype in some ethnic groups in China, so as to provide references for accurate blood transfusion. [Methods] The data of CNKI, Wanfang data and VIP were retrieved using "Rh blood group" and "nationality", and the search of PubMed database was conducted with the keywords "Rh blood group", "nationalities", "ethnic groups" and "China", with retrieval time until September 19, 2024 Data were extracted from eligible studies and the literature quality was evaluated using the criteria for cross-sectional studies in STROBE statement. Meta analysis was performed using Stata 11.0 software. [Results] A total of 350 relevant literature were retrieved, of which 26 were included. The total sample size for Rh phenotype distribution detection were 31 432, and the total population for RhD negative screening was 47 227, covering 26 ethnic groups. Meta-analysis revealed that the Rh blood groups phenotype distribution in certain ethnic populations in China was mainly CCDee 46.7% (95%CI=46.2%-47.2%), CcDEe 30.1% (95%CI=29.5%-30.6%), and CcDee 9.0% (95%CI=8.7%-9.3%). Analysis of the RhD-negative phenotype indicated an negative rate of RhD of 0.3% (95%CI=0.2%-0.3%), with the main phenotype distributions of ccdee at 0.2% (95%CI=0.1%-0.2%) and ccdEe at 0.2% (95%CI=0.0%-0.4%). The meta-analysis results of the distribution of common phenotypes among different ethnic groups showed that the CCDee phenotype was mainly distributed as Hani>Dong>Buyi>Miao>Tujia>Hui>Zang>Kazakh>Mongol>Uygur; the CcDEe phenotype: Zang>Mongol>Hui; the CcDee phenotype: Uygur>Kazakh>Mongol>Zang>Hui>Dong>Miao>Tujia>Buyi; the ccDEE phenotype: Zang>Hui=Mongol. The results of this study are similar to those of Qingdao population in China, but differ from studies conducted in North India, German individuals of European ancestry and Saudi Arabian populations. [Conclusion] The distribution of Rh blood group phenotypes in some ethnic groups in China shows no significant difference compared to the Han population, but there are differences when compared to populations in other countries and regions.
3.Research on the innovation of medical humanities teaching in military medical universities by the red doctor spirit
Qiuju ZHANG ; Taishi ZHOU ; Yan WU ; Xiaojuan WU ; Yang JIAO ; Zhenghao LI
Chinese Medical Ethics 2025;38(7):909-913
The red doctor spirit is the advanced culture of the Communist Party of China formed under a specific historical and cultural background. It can be summarized as “political firmness, excellent technology, working hard, and healing the wounded and rescuing the dying.” This content has many hidden similarities and integrations with the goal of cultivating humanistic literacy for medical students in military medical universities. This paper aimed to identify the important connection points between the red doctor spirit and the contents and goals of medical humanities teaching, as well as integrate the red doctor spirit into medical humanities teaching by various dimensions, including systematic reconstruction of textbook content, immersive innovation in teaching form, three-dimensional support in resource construction, and innovative implementation of narrative medicine teaching. It also further explored the extension of the red doctor spirit in military medical humanistic literacy, namely, revolutionary humanism and revolutionary heroism, thereby enhancing the effectiveness of medical humanistic teaching.
4.Evaluation of surgical efficacy in patients with hepatic cystic echinococcosis in Gansu Province from 2006 to 2023
Xixi CHENG ; Yu FENG ; Xu WANG ; Zhiyi WANG ; Jiaxi LEI ; Mingzhe JIANG ; Guobing YANG ; Xiaojuan ZHANG ; Shijie YANG ; Liying WANG
Chinese Journal of Schistosomiasis Control 2025;37(3):247-254
Objective To evaluate the therapeutic efficacy for surgical treatments among patients with hepatic cystic echinococcosis in Gansu Province from 2006 to 2023, so as to provide insights into optimization of the diagnosis and treatment strategies against hepatic cystic echinococcosis. Methods The demographic and clinical data of all echinococcosis cases included in central government fiscal transfer payment program for echinococcosis control and undergoing surgical treatments in Gansu Province from 2006 to 2023 were captured. Hepatic cystic echinococcosis patients with complete medical records and follow-up data were included in the study, and patients’ characteristics, including hospital where patients received diagnosis and treatment, methods of case identification, year of surgery, classification of lesions, number of lesions, size of lesions, course of disease, surgical methods, and post-surgical follow-up data. The cure and recurrence of hepatic cystic echinococcosis were evaluated according to the Guidelines for Management of Echinococcosis Patients in the Central Government Fiscal Transfer Payment Program, and the cure and recurrent rates were calculated. Results Data were collected from 1 686 surgical patients with hepatic cystic echinococcosis. According to the inclusion and exclusion criteria, 1 222 hepatic cystic echinococcosis patients undergoing surgical treatments were included during the period from 2006 to 2022, including 1 166 cured patients (95.42%) and 88 patients with postsurgical recurrence (7.20%), and the cure rate of surgical treatments appeared a tendency towards a rise among patients with hepatic cystic echinococcosis from 2008 to 2022 (χ2trend = 19.39, P < 0.05). The cure rates of hepatic cystic echinococcosis were 100% (177/177), 94.81% (128/135) and 94.62% (861/910) among patients detected through regular physical examinations, screened by the central government fiscal transfer payment program for echinococcosis control, and those who passively sought healthcare services, respectively (χ2 = 9.95, P < 0.05). The cure rates of hepatic cystic echinococcosis were 95.96% (1 046/1 090) among patients with a disease course of 2 years and less and 90.90% (120/132) among patients with a disease course of over 2 years (χ2 = 6.87, P < 0.05), and there were significant differences in the cure rates among patients with hepatic cystic echinococcosis in terms of number of lesions (χ2 = 24.44, P < 0.05) and surgical methods (P < 0.05). The cure rate of hepatic cystic echinococcosis patients was significantly higher following initiation of the central government fiscal transfer payment program for echinococcosis control (96.06%, 1 096/1 141) than before the program (86.42%, 70/81) (χ2 = 16.06, P < 0.05), and the cure rate of hepatic cystic echinococcosis patients was significantly higher in designated hospitals (96.48%, 741/768) than in non-designated hospitals (93.37%, 366/392) (χ2 = 5.78, P < 0.05). The median follow-up period was 4 (interquartile range, 7) years among 1 222 hepatic cystic echinococcosis patients undergoing surgical treatments. The recurrent rate of hepatic cystic echinococcosis appeared a tendency towards a decline from 2008 to 2022 (χ2trend = 36.86, P < 0.05), with a reduction from 23.08% (9/39) in 2008 to 1.85% (1/54) in 2021, and the post-surgical recurrence rate of hepatic cystic echinococcosis was lower following initiation of the central government fiscal transfer payment program for echinococcosis control (5.87%, 67 / 1 141) than before the program (25.93%, 21/81) (χ2 = 45.51, P < 0.05). In addition, the post-surgical recurrence rate of hepatic cystic echinococcosis was higher in non-designated hospitals (10.46%, 41/392) than in designated hospitals (5.60%, 43/768) (χ2 = 9.12, P < 0.05), and there was a significant difference in the post-surgical recurrence rate among patients with hepatic cystic echinococcosis in terms of surgical methods (P < 0.05), with the highest recurrence rate (11.54%) seen among patients undergoing percutaneous fine-needle aspiration of cyst fluids-based surgical procedures (P < 0.05). Conclusion Since the initiation of the central government fiscal transfer payment program for echinococcosis control in Gansu Province in 2006, an increase in the surgical cure rate and a reduction in the recurrence of hepatic cystic echinococcosis had been found among patients with hepatic cystic echinococcosis, indicating a high overall therapeutic efficacy.
5.Clinical Characteristics and Early Risk Factors for Toxic Encephalopathy in Acute Diquat Poisoning
Yihong YANG ; Jiawei LI ; Xiaojuan LIU ; Qiqi LIU ; Hongbo LIU ; Guanghua XIONG ; Yecheng LIU
Medical Journal of Peking Union Medical College Hospital 2025;16(5):1229-1235
To analyze the clinical characteristics of acute diquat poisoning complicated by central nervous system injury (CNSI) and identify early risk factors, aiming to provide a theoretical basis for reducing mortality in diquat poisoning with CNSI. Clinical data from patients with acute diquat poisoning admitted to the Emergency Department of Fuyang People's Hospital Affiliated to Anhui Medical University between October 2019 and October 2024 were retrospectively analyzed. Patients were divided into CNSI and non-CNSI groups based on complications. Clinical features were compared between groups, and variables with statistical significance were subjected to binary logistic regression to identify independent risk factors for CNSI. Receiver operating characteristic (ROC) curves were generated to evaluate the predictive value of these factors. A total of 63 eligible patients were included, with 18 deaths (28.57%) and 26 cases (41.27%) complicated by CNSI. The median time from diquat ingestion to CNSI onset was 15.5 (9.8, 31.3) hours. The CNSI group exhibited significantly higher mortality rates and required more frequent respiratory support and anti-shock therapy than the non-CNSI group (all CNSI is a fatal complication of acute diquat poisoning with high mortality. Diquat plasma concentration (≥549.95 μg/L) and APACHE Ⅱ score are independent risk factors for CNSI, and their combined application enhances predictive accuracy. These findings underscore the importance of early risk stratification and targeted interventions in high-risk populations.
7.Association between temperature and mortality: a multi-city time series study in Sichuan Basin, southwest China.
Yizhang XIA ; Chunli SHI ; Yang LI ; Shijuan RUAN ; Xianyan JIANG ; Wei HUANG ; Yu CHEN ; Xufang GAO ; Rong XUE ; Mingjiang LI ; Hongying SUN ; Xiaojuan PENG ; Renqiang XIANG ; Jianyu CHEN ; Li ZHANG
Environmental Health and Preventive Medicine 2024;29():1-1
BACKGROUND:
There are few multi-city studies on the association between temperature and mortality in basin climates. This study was based on the Sichuan Basin in southwest China to assess the association of basin temperature with non-accidental mortality in the population and with the temperature-related mortality burden.
METHODS:
Daily mortality data, meteorological and air pollution data were collected for four cities in the Sichuan Basin of southwest China. We used a two-stage time-series analysis to quantify the association between temperature and non-accidental mortality in each city, and a multivariate meta-analysis was performed to obtain the overall cumulative risk. The attributable fractions (AFs) were calculated to access the mortality burden attributable to non-optimal temperature. Additionally, we performed a stratified analyses by gender, age group, education level, and marital status.
RESULTS:
A total of 751,930 non-accidental deaths were collected in our study. Overall, 10.16% of non-accidental deaths could be attributed to non-optimal temperatures. A majority of temperature-related non-accidental deaths were caused by low temperature, accounting for 9.10% (95% eCI: 5.50%, 12.19%), and heat effects accounted for only 1.06% (95% eCI: 0.76%, 1.33%). The mortality burden attributable to non-optimal temperatures was higher among those under 65 years old, females, those with a low education level, and those with an alternative marriage status.
CONCLUSIONS
Our study suggested that a significant association between non-optimal temperature and non-accidental mortality. Those under 65 years old, females, and those with a low educational level or alternative marriage status had the highest attributable burden.
Female
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Humans
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China/epidemiology*
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Cities
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Cold Temperature
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Hot Temperature
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Mortality
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Temperature
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Time Factors
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Middle Aged
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Male
8.High-throughput screening of novel TFEB agonists in protecting against acetaminophen-induced liver injury in mice.
Xiaojuan CHAO ; Mengwei NIU ; Shaogui WANG ; Xiaowen MA ; Xiao YANG ; Hua SUN ; Xujia HU ; Hua WANG ; Li ZHANG ; Ruili HUANG ; Menghang XIA ; Andrea BALLABIO ; Hartmut JAESCHKE ; Hong-Min NI ; Wen-Xing DING
Acta Pharmaceutica Sinica B 2024;14(1):190-206
Macroautophagy (referred to as autophagy hereafter) is a major intracellular lysosomal degradation pathway that is responsible for the degradation of misfolded/damaged proteins and organelles. Previous studies showed that autophagy protects against acetaminophen (APAP)-induced injury (AILI) via selective removal of damaged mitochondria and APAP protein adducts. The lysosome is a critical organelle sitting at the end stage of autophagy for autophagic degradation via fusion with autophagosomes. In the present study, we showed that transcription factor EB (TFEB), a master transcription factor for lysosomal biogenesis, was impaired by APAP resulting in decreased lysosomal biogenesis in mouse livers. Genetic loss-of and gain-of function of hepatic TFEB exacerbated or protected against AILI, respectively. Mechanistically, overexpression of TFEB increased clearance of APAP protein adducts and mitochondria biogenesis as well as SQSTM1/p62-dependent non-canonical nuclear factor erythroid 2-related factor 2 (NRF2) activation to protect against AILI. We also performed an unbiased cell-based imaging high-throughput chemical screening on TFEB and identified a group of TFEB agonists. Among these agonists, salinomycin, an anticoccidial and antibacterial agent, activated TFEB and protected against AILI in mice. In conclusion, genetic and pharmacological activating TFEB may be a promising approach for protecting against AILI.
9.Risk factors for cage retropulsion following transforaminal lumbar interbody fusion
Jintao XI ; Qilin LU ; Yang WANG ; Xiaojuan WANG ; Peng LYU ; Long CHEN ; Zhen SHI ; Wei XIE ; Yiliang ZHU ; Xugui LI
Chinese Journal of Tissue Engineering Research 2024;28(9):1394-1398
BACKGROUND:Previous literature reported that the fusion cage moved more than 2 mm from its original position,which means that the fusion cage moved backward.At present,clinical observation has found that the factors leading to the displacement of the fusion cage are complex,and the relationship between these factors and the cage retropulsion is not clear. OBJECTIVE:To explore the risk factors related to cage retropulsion after lumbar interbody fusion. METHODS:Retrospective analysis was conducted in 200 patients who underwent transforaminal lumbar interbody fusion surgery with a polyetheretherketone interbody fusion from February 2020 to February 2022.According to the distance from the posterior edge of the vertebral fusion cage to the posterior edge of the vertebral body after the operation(the second day after the removal of the drainage tube)and 1,3,6 and 12 months after the operation,patients were divided into cage retropulsion group(≥2 mm)and cage non-retropulsion group(<2 mm).The factors that may affect cage retropulsion,such as age,gender,body mass index,bone mineral density,operation time,bleeding,endplate injury,preoperative and postoperative interbody height,cage implantation depth,cage size,and segmental anterior convexity angle,were analyzed by univariate and logistic regression analysis. RESULTS AND CONCLUSION:(1)Posterior displacement of the fusion cage occurred in 15 cases(15/200).The differences in basic information such as age and body mass index between the two groups were not statistically significant.(2)The results of the univariate analysis were that gap height difference,time to wear a brace,segmental anterior convexity angle difference,bone mineral density,and age were related to posterior migration of the cage.(3)The results of logistic regression analysis were that cage size,endplate injury condition,and depth of cage implantation were risk factors for cage retropulsion.(4)These findings suggest that cage retropulsion after lumbar interbody fusion is caused by multiple factors,including segmental anterior convexity angle difference,bone mineral density,cage size,endplate damage,time to wear a brace,and depth of cage implantation.
10.Analysis of the Results of Deafness Gene Screening in 301 Severe and Very Severe Non-syndrome Deafness Children
Xiaojuan HOU ; Li YANG ; Wei DING
Journal of Medical Research 2024;53(1):157-161
Objective To study the results of the deafness gene in 301 children with severe and very severe non-syndrome deafness in Xinjiang,to provide a reference for rehabilitation and genetic counseling after cochlear implantation.Methods A total of 301 patients with severe and very severe non-syndrome deafness who were admitted to the People's Hospital of Xinjiang Uygur Autonomous Region from 2017 to 2019 were collected.After informed consent,the patients were screened for deafness genes,including 25 loci in GJB2,SLC26A4,mt12SrRNA,OTOF,and SLC17A8 genes(c.35delG,c.167delT,c.176_191del16,c.235delC,c.299_300delAT,c.281C>T,c.589G>A,c.IVS7-2A>G,c.1174A>T,c.1226G>A,c.1229C>T,c.IVS15+5G>A,c.1975G>C,c.2027T>A,c.2162C>T,c.2168A>G,c.1494C>T,c.1555A>G,c.1585A>G,c.1047A>G,c.1095T>C,c.960_961 insC/961delT,c.4023G>A,c.4819C>T,c.824C>A),and the detection results were analyzed.Results Among 301 cases of severe and very severe non-syndrome deaf-ness,80 cases of positive mutation were screened,and the total detection rate was 26.58%(80/301).The mutation rates of GJB2,SLC26A4,and mt12SrRNA genes were 10.96%(37/301),12.62%(38/301),and 4.32%(13/301),respectively.The main forms of GJB2 mutations were c.235delC and c.35delG,accounting for 37.50%(30/80)and 8.75%(7/80)of the mutations,respectively.The main forms of SLC26A4 mutations were c.IVS7-2A and c.1174 A>T,accounting for 26.25%(21/80)and 11.25%(9/80)of the mutations,respectively.The main mutation forms of mt12SrRNA were c.960_961 insC/961delT and c.1555A>G,accounting for 7.50%(6/80)and 5.00%(4/80)of the mutations,respectively.The c.4023G>A and c.4819C>T mutations in OTOF and c.824C>A mutations in SLC17A8 were not detected.The total detection rate of mutation sites in the Han nationality was significantly higher than that in the Uygur nationality(x2=19.064,P<0.001).Conclusion GJB2 and SLC26A4 are common pathogenic genes in children with severe and very severe non-syndrome deafness in Xinjiang.There may be other hot spot mutation sites in the Uygur nationality.

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