1.Diversity of the Duffy blood group gene among ethnic Hui population in Henan Province
Wenyan CUI ; Hecai YANG ; Cunquan KONG ; Yongkui KONG ; Yunfei YOU ; Yujing LIU ; Jinhua LIU ; Maocai CHEN ; Yulin ZHANG
Chinese Journal of Medical Genetics 2025;42(3):274-281
Objective:To analyze the diversity of Duffy blood group gene among ethnic Hui population from Henan Province using PacBio long-read sequencing technique.Methods:Randomly select 30 individuals with three generations of Hui ancestry from Henan as the study subjects. Full-length sequences of the Duffy blood group gene were obtained through PacBio long-read sequencing. Distribution of the predicted phenotype and genotype frequency were determined, and the linkage between Duffy haplotypes and variation sites was analyzed. Genetic diversity, natural selection pressure, and population genetic characteristics were evaluated. This study was approved by the Medical Ethics Committee of the Second Affiliated Hospital of Zhengzhou University (Ethics No. 202223).Results:The predicted Duffy blood group phenotype in the Henan Hui population was predominantly Fy(a+ b-). Three novel SNPs in the FY*01 allele were identified, with a total frequency of 13.33%, among which FY*01.NEW1 (c.199C>T) was the most common. A total of 32 variant sites were identified, with 28 located in intronic regions, indicating that genetic diversity was primarily concentrated in introns. The Duffy blood group gene was under negative selection pressure ( dN/ dS < 1, Tajima′s D, Fu and Li′s D*& F* significantly deviated from 0), suggesting overall conservation. The allele frequencies of Duffy blood group in the Henan Hui population was similar to that of the Xinjiang Hui, Xinjiang Kazakh, Inner Mongolia Mongolian, and Yuncheng Han populations, but significantly different from those of most Han and other ethnic groups ( P<0.05). Conclusion:This study revealed the characteristics of the Duffy blood group gene among the Henan Hui population and demonstrated the significant advantages of PacBio long-read sequencing technique in haplotype analysis, genetic diversity study, and novel mutation identification.
2.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.
3.Research advance on the role of gut microbiota and its metabolites in juvenile idiopathic arthritis.
Ao-Hui PENG ; You-Jia CHEN ; Jin-Xuan GU ; Zhi-Gang JIN ; Xu-Bo QIAN
Acta Physiologica Sinica 2025;77(3):587-601
Juvenile idiopathic arthritis (JIA) is the most common condition of chronic rheumatic disease in children. JIA is an autoimmune or autoinflammatory disease, with unclear mechanism and limited treatment efficacy. Recent studies have found a number of alterations in gut microbiota and its metabolites in children with JIA, which are related to the development and progression of JIA. This review focuses on the influence of the gut microbiota and its metabolites on immune function and the intestinal mucosal barrier and discuss the key role of the gut-joint axis in the pathogenesis of JIA and emerging treatment methods based on gut microbiota and its metabolites. This review could help elucidate the pathogenesis of JIA and identify the potential therapeutic targets for the prevention and treatment of JIA.
Humans
;
Arthritis, Juvenile/physiopathology*
;
Gastrointestinal Microbiome/physiology*
;
Child
;
Intestinal Mucosa
4.Diversity of the Duffy blood group gene among ethnic Hui population in Henan Province.
Wenyan CUI ; Hecai YANG ; Cunquan KONG ; Yongkui KONG ; Yunfei YOU ; Yujing LIU ; Jinhua LIU ; Maocai CHEN ; Yulin ZHANG
Chinese Journal of Medical Genetics 2025;42(3):274-281
OBJECTIVE:
To analyze the diversity of Duffy blood group gene among ethnic Hui population from Henan Province using PacBio long-read sequencing technique.
METHODS:
Randomly select 30 individuals with three generations of Hui ancestry from Henan as the study subjects. Full-length sequences of the Duffy blood group gene were obtained through PacBio long-read sequencing. Distribution of the predicted phenotype and genotype frequency were determined, and the linkage between Duffy haplotypes and variation sites was analyzed. Genetic diversity, natural selection pressure, and population genetic characteristics were evaluated. This study was approved by the Second Affiliated Hospital of Zhengzhou University (Ethics No. 2022223).
RESULTS:
The predicted Duffy blood group phenotype in the Henan Hui population was predominantly Fy(a+b-). Three novel SNPs in the FY*01 allele were identified, with a total frequency of 13.33%, among which FY*01.NEW1 (c.199C>T) was the most common. A total of 32 variant sites were identified, with 28 located in intronic regions, indicating that genetic diversity was primarily concentrated in introns. The Duffy blood group gene was under negative selection pressure (dN/dS < 1, Tajima's D, Fu and Li's D* and F* significantly deviated from 0), suggesting overall conservation. The allele frequencies of Duffy blood group in the Henan Hui population was similar to that of the Xinjiang Hui, Xinjiang Kazakh, Inner Mongolia Mongolian, and Yuncheng Han populations, but significantly different from those of most Han and other ethnic groups (P < 0.05).
CONCLUSION
This study revealed the characteristics of the Duffy blood group gene among the Henan Hui population and demonstrated the significant advantages of PacBio long-read sequencing technique in haplotype analysis, genetic diversity study, and novel mutation identification.
Female
;
Humans
;
Male
;
Asian People/ethnology*
;
China/ethnology*
;
Duffy Blood-Group System/genetics*
;
Ethnicity/genetics*
;
Gene Frequency
;
Genetic Variation
;
Haplotypes
;
Polymorphism, Single Nucleotide
5.Curative effect of ear acupoint bean pressing in improving gastrointestinal function and gastrointestinal hormone level after laparoscopic hysteromyoma operation
Jinhua HUANG ; Wenye ZHANG ; Xiaofeng YOU ; Jing XIAO ; Liurong ZHENG ; Jilai LIU ; Mei WANG ; Shujing XIANG
Journal of Chongqing Medical University 2025;50(4):516-522
Objective:To investigate the effect of ear acupoint bean pressing on gastrointestinal motility and related hormones after laparoscopic surgery in patients with hysteromyoma,and to explore the therapeutic mechanism of ear acupoint bean pressing.Methods:Patients undergoing laparoscopic myomectomy in the Department of Gynecology of The People's Hospital Affiliated to Fujian Univer-sity of Traditional Chinese Medicine from May 2022 to December 2023 were randomly divided into an experimental group and a control group,with 57 patients in each group.The experimental group was treated with postoperative routine nursing and ear acupoint bean pressing(targeting the spleen,stomach,and sympathetic),and the control group was treated with postoperative routine nursing and sham ear acupoint bean pressing(containing no Vaccaria seed,targeting the spleen,stomach,and sympathetic).After the intervention,the time to first postoperative passing of flatus and defecation,clinical efficacy,and changes in gastrointestinal hormone levels were compared between the two groups.Results:The time to first postoperative passing of flatus[20.31(17.52,22.38)h vs.21.51(18.53,28.15)h]and defecation[35.32(31.47,39.17)h vs.38.12(33.44,42.78)h]in the experimental group was lower than that in the control group(P<0.05),and the clinical efficacy was better than that in the control group(P<0.05).There were no significant differ-ences in motilin(MTL),gastrin(GAS),somatostatin(SS),and substance P(SP)levels between the two groups before operation(P>0.05).The MTL and GAS levels were increased and the SS and SP levels were decreased after operation.The MTL[(451.52±54.33)pg/mL vs.(476.24±56.35)pg/mL]and GAS[150.50(133.93,164.52)pg/mL vs.173.44(154.45,184.63)pg/mL]levels at 24 h after operation in the experimental group were lower than those in the control group(P<0.05),and the SS[38.34(33.24,40.23)pg/mL vs.33.36(29.13,38.76)pg/mL]level at 24 h after operation was higher than that in the control group(P<0.05),with no significant change in the SP level(P>0.05).The results of repeated measures analysis of variance and generalized estimation equation showed that there were significant differences in the time effect and interaction effect of MTL(P<0.05),a significant difference in the time effect of SP(P<0.05),and significant differences in the time effect,intergroup effect,and interaction effect of GAS and SS(P<0.05).Conclusion:Ear acupoint bean pressing has significant effect on abdominal distension after laparoscopic surgery in patients with hysteromyoma,ef-fectively regulates the level of gastrointestinal motility related hormones,and promotes the recovery of gastrointestinal function.
6.Diversity of the Duffy blood group gene among ethnic Hui population in Henan Province
Wenyan CUI ; Hecai YANG ; Cunquan KONG ; Yongkui KONG ; Yunfei YOU ; Yujing LIU ; Jinhua LIU ; Maocai CHEN ; Yulin ZHANG
Chinese Journal of Medical Genetics 2025;42(3):274-281
Objective:To analyze the diversity of Duffy blood group gene among ethnic Hui population from Henan Province using PacBio long-read sequencing technique.Methods:Randomly select 30 individuals with three generations of Hui ancestry from Henan as the study subjects. Full-length sequences of the Duffy blood group gene were obtained through PacBio long-read sequencing. Distribution of the predicted phenotype and genotype frequency were determined, and the linkage between Duffy haplotypes and variation sites was analyzed. Genetic diversity, natural selection pressure, and population genetic characteristics were evaluated. This study was approved by the Medical Ethics Committee of the Second Affiliated Hospital of Zhengzhou University (Ethics No. 202223).Results:The predicted Duffy blood group phenotype in the Henan Hui population was predominantly Fy(a+ b-). Three novel SNPs in the FY*01 allele were identified, with a total frequency of 13.33%, among which FY*01.NEW1 (c.199C>T) was the most common. A total of 32 variant sites were identified, with 28 located in intronic regions, indicating that genetic diversity was primarily concentrated in introns. The Duffy blood group gene was under negative selection pressure ( dN/ dS < 1, Tajima′s D, Fu and Li′s D*& F* significantly deviated from 0), suggesting overall conservation. The allele frequencies of Duffy blood group in the Henan Hui population was similar to that of the Xinjiang Hui, Xinjiang Kazakh, Inner Mongolia Mongolian, and Yuncheng Han populations, but significantly different from those of most Han and other ethnic groups ( P<0.05). Conclusion:This study revealed the characteristics of the Duffy blood group gene among the Henan Hui population and demonstrated the significant advantages of PacBio long-read sequencing technique in haplotype analysis, genetic diversity study, and novel mutation identification.
7.Comparison of anterior lateral ligament reconstruction and anterior lateral complex repair in the treatment of anterior cruciate ligament combined with anterior lateral ligament injury with high-grade pivot shift.
Xue-Feng JIA ; Qing-Hua WU ; Tong-Bo DENG ; Xiao-Zhen SHEN ; Jian-Ping YE ; He FANG ; Rong-Chang ZHOU ; Yang CAO ; You-Fen CHEN ; Qi-Ning YANG ; Guo-Hong XU
China Journal of Orthopaedics and Traumatology 2024;37(11):1101-1106
OBJECTIVE:
To retrospectively analyze the clinical efficacy of anterior cruciate ligament (ACL) reconstruction combined with anterolateral complex repair and ACL reconstruction combined with ALL reconstruction in the treatment of anterior cruciate ligament injuries with high-grade pivot shift.
METHODS:
From January 2018 to June 2022, 49 patients combined ACL and ALL injuries with high-grade pivot shift were retrospectively studied from three hospitals, 29 of them underwent ACL reconstruction with anterolateral complex repair (repair group), including 23 males and 6 females with an average age of (27.5±4.8) years old, ranged from 20 to 37 years old;the injured sides were 13 on the left and 16 on the right, and 11 patients were suffered with meniscus injury. The other 20 patients underwent ACL and ALL reconstruction (reconstruction group) including 17 males and 3 females with the mean age of (27.1±4.5) years old, ranged from 20 to 38 years old;the injured sides were 8 on the left and 12 on the right, and 6 patients were suffered with meniscus injury. Knee stability (pivot shift test, KT-2000), range of motion, knee function (Lysholm scoring scale, Cincinnati sports activity scale (CSAS) scoring scale, and Tegner activity level score between two groups were compared.
RESULTS:
A total of 49 patients were followed up, the repair group receiving 13 to 20(15.3±1.8) months and the reconstruction group receiving 12 to 21(16.0±2.2) months. There was no statistically significant difference in the preoperative pivot shift test grading distribution between two groups (P>0.05). At the last postoperative follow-up, there were 24 patients with grade 0 and 5 patients with grade 1 in the repair group, and there were 18 patients with grade 0 and 2 patients with grade 1 in the reconstruction group, there is no significant difference in the distribution of axial shift test grading between two groups(P>0.05). The preoperative KT-2000 tibial displacement of two groups were (9.39±0.77) mm (repair group) and (9.14±0.78) mm (reconstruction group) respectively, with no statistically significant difference (P>0.05). At the final postoperative follow-up, there were 24 patients with KT-2000 tibial displacement <3 mm and 5 patients with 3 to 5 mm in the repair group, while 18 patients with <3 mm and 2 patients with 3 to 5 mm in the reconstruction group, KT-2000 tibial displacement distribution of two groups was no significant difference (P>0.05), but the KT-2000 tibial displacement in the reconstruction group (1.30±0.86) mm was significantly smaller than that in the repair group (1.99±1.11) mm (P<0.05). The final postoperative follow-up range of motion of the contralateral side knee between two groups was no significant difference (P>0.05). The range of motion of the suffering knee in the repair group was less than that in the reconstruction group (P<0.05). There was no significant difference in preoperative Lysholm and CSAS scores between two groups (P>0.05). At the final postoperative follow-up, both groups showed significant improvement in Lysholm and CSAS scores, while the Lysholm and CSAS scores of the reconstruction group were better than those of the repair group, and the difference was statistically significant (P<0.05). Significant differences was found in Tegner scores between two groups, which 16 patients in the repair group returned to their pre-injury activity level, and 17 patients in the reconstruction group returned to their pre-injury level (P<0.05).
CONCLUSION
Compared to anterolateral complex repair, combined ACL and ALL reconstruction in the treatment of ACL injuries with high-grade pivot shift results in better knee joint function and stability. This is advantageous in reducing the risk of ACL reconstruction failure.
Humans
;
Male
;
Female
;
Adult
;
Anterior Cruciate Ligament Reconstruction/methods*
;
Anterior Cruciate Ligament Injuries/surgery*
;
Young Adult
;
Retrospective Studies
;
Anterior Cruciate Ligament/surgery*
;
Range of Motion, Articular
8.Antimicrobial resistance profile of clinical isolates in hospitals across China:report from the CHINET Antimicrobial Resistance Surveillance Program,2023
Yan GUO ; Fupin HU ; Demei ZHU ; Fu WANG ; Xiaofei JIANG ; Yingchun XU ; Xiaojiang ZHANG ; Fengbo ZHANG ; Ping JI ; Yi XIE ; Yuling XIAO ; Chuanqing WANG ; Pan FU ; Yuanhong XU ; Ying HUANG ; Ziyong SUN ; Zhongju CHEN ; Jingyong SUN ; Qing CHEN ; Yunzhuo CHU ; Sufei TIAN ; Zhidong HU ; Jin LI ; Yunsong YU ; Jie LIN ; Bin SHAN ; Yunmin XU ; Sufang GUO ; Yanyan WANG ; Lianhua WEI ; Keke LI ; Hong ZHANG ; Fen PAN ; 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 ; Wei LI ; Shanmei WANG ; Yafei CHU ; 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 ; Qian SUN ; Jinju DUAN ; Jianbang KANG ; Xiaobo MA ; Yanqing ZHENG ; Ruyi GUO ; Yan ZHU ; Yunsheng CHEN ; Qing MENG ; Shifu WANG ; Xuefei HU ; Hua FANG ; Penghui ZHANG ; Bixia YU ; Ping GONG ; Haixia SHI ; Kaizhen WEN ; Yirong ZHANG ; Xiuli YANG ; Yiqin ZHAO ; Longfeng LIAO ; Jinhua WU ; Hongqin GU ; Lin JIANG ; Meifang HU ; Wen HE ; Jiao FENG ; Lingling YOU ; Dongmei WANG ; Dong'e WANG ; Yanyan LIU ; Yong AN ; Wenhui HUANG ; Juan LI ; Quangui SHI ; Juan YANG ; Abulimiti REZIWAGULI ; Lili HUANG ; Xuejun SHAO ; Xiaoyan REN ; Dong LI ; Qun ZHANG ; Xue CHEN ; Rihai LI ; Jieli XU ; Kaijie GAO ; Lu XU ; Lin LIN ; Zhuo ZHANG ; Jianlong LIU ; Min FU ; Yinghui GUO ; Wenchao ZHANG ; Zengguo WANG ; Kai JIA ; Yun XIA ; Shan SUN ; Huimin YANG ; Yan MIAO ; Jianping WANG ; Mingming ZHOU ; Shihai ZHANG ; Hongjuan LIU ; Nan CHEN ; Chan LI ; Cunshan KOU ; Shunhong XUE ; Jilu SHEN ; Wanqi MEN ; Peng WANG ; Xiaowei ZHANG ; Xiaoyan ZENG ; Wen LI ; Yan GENG ; Zeshi LIU
Chinese Journal of Infection and Chemotherapy 2024;24(6):627-637
Objective To monitor the susceptibility of clinical isolates to antimicrobial agents in healthcare facilities in major regions of China in 2023.Methods Clinical isolates collected from 73 hospitals across China were tested for antimicrobial susceptibility using a unified protocol based on disc diffusion method or automated testing systems.Results were interpreted using the 2023 Clinical & Laboratory Standards Institute (CLSI) breakpoints.Results A total of 445199 clinical isolates were collected in 2023,of which 29.0% were gram-positive and 71.0% were gram-negative.The prevalence of methicillin-resistant strains in Staphylococcus aureus,Staphylococcus epidermidis and other coagulase-negative Staphylococcus species (excluding Staphylococcus pseudintermedius and Staphylococcus schleiferi) (MRSA,MRSE and MRCNS) was 29.6%,81.9% and 78.5%,respectively.Methicillin-resistant strains showed significantly higher resistance rates to most antimicrobial agents than methicillin-susceptible strains (MSSA,MSSE and MSCNS).Overall,92.9% of MRSA strains were susceptible to trimethoprim-sulfamethoxazole and 91.4% of MRSE strains were susceptible to rifampicin.No vancomycin-resistant strains were found.Enterococcus faecalis had significantly lower resistance rates to most antimicrobial agents tested than Enterococcus faecium.A few vancomycin-resistant strains were identified in both E.faecalis and E.faecium.The prevalence of penicillin-susceptible Streptococcus pneumoniae was 93.1% in the isolates from children and and 95.9% in the isolates from adults.The resistance rate to carbapenems was lower than 15.0% for most Enterobacterales species except for Klebsiella,22.5% and 23.6% of which were resistant to imipenem and meropenem,respectively .Most Enterobacterales isolates were highly susceptible to tigecycline,colistin and polymyxin B,with resistance rates ranging from 0.6% to 10.0%.The resistance rate to imipenem and meropenem was 21.9% and 17.4% for Pseudomonas aeruginosa,respectively,and 67.5% and 68.1% for Acinetobacter baumannii,respectively.Conclusions Increasing resistance to the commonly used antimicrobial agents is still observed in clinical bacterial isolates.However,the prevalence of important crabapenem-resistant organisms such as crabapenem-resistant K.pneumoniae,P.aeruginosa,and A.baumannii showed a slightly decreasing trend.This finding suggests that strengthening bacterial resistance surveillance and multidisciplinary linkage are important for preventing the occurrence and development of bacterial resistance.
9.Current status of surveillance systems for human respiratory syncytial virus
Baicheng XIA ; Bingbing CONG ; Huiling WANG ; Shihao MA ; Jinhua SONG ; Na WANG ; Yan ZHANG ; You LI
Chinese Journal of Preventive Medicine 2024;58(7):967-982
To conduct timely surveillance of the seasonal characteristics and disease burden of Human Respiratory Syncytial Virus (HRSV) in various geographical regions of China, and further develop more precise and effective prevention and intervention strategies, there is an urgent need for China to establish a nationwide, effective, and stable HRSV surveillance system. Through combining the current status of domestic and international HRSV surveillance systems and the existing surveillance framework in China, this study proposed an HRSV surveillance type applicable to China based on different surveillance purposes, and considering the feasibility of implementation. This article aimed to provide solid scientific and technical support to monitor the dynamic changes of HRSV epidemic timely, carry out a risk assessment and early warning, and further understand the disease burden of HRSV in China. It also helps to improve the diagnosis, prevention, and control of the HRSV diseases research and development, use, and evaluation of HRSV vaccines and drugs in China.
10.Current status of surveillance systems for human respiratory syncytial virus
Baicheng XIA ; Bingbing CONG ; Huiling WANG ; Shihao MA ; Jinhua SONG ; Na WANG ; Yan ZHANG ; You LI
Chinese Journal of Preventive Medicine 2024;58(7):967-982
To conduct timely surveillance of the seasonal characteristics and disease burden of Human Respiratory Syncytial Virus (HRSV) in various geographical regions of China, and further develop more precise and effective prevention and intervention strategies, there is an urgent need for China to establish a nationwide, effective, and stable HRSV surveillance system. Through combining the current status of domestic and international HRSV surveillance systems and the existing surveillance framework in China, this study proposed an HRSV surveillance type applicable to China based on different surveillance purposes, and considering the feasibility of implementation. This article aimed to provide solid scientific and technical support to monitor the dynamic changes of HRSV epidemic timely, carry out a risk assessment and early warning, and further understand the disease burden of HRSV in China. It also helps to improve the diagnosis, prevention, and control of the HRSV diseases research and development, use, and evaluation of HRSV vaccines and drugs in China.

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