1.Analysis of serological and molecular genetic characteristics of a Chinese pedigree with a B(A)06 subtype.
Dongdong TIAN ; Ding ZHAO ; Wei LI ; Zhihao LI ; Jiali YANG ; Yongfang ZHANG ; Liuchuang ZHENG
Chinese Journal of Medical Genetics 2026;43(3):220-227
OBJECTIVE:
To explore the serological and molecular genetic characteristics of a family with subtype B(A)06.
METHODS:
A neonatal hyperbilirubinemia patient who was treated at Henan Children's Hospital on June 15, 2023 due to "yellowing of the skin and gradual aggravation", and was found to have inconsistent ABO forward and reverse typing through blood type testing, was selected as the research subject. Six milliliters of peripheral blood were collected from the newborn and her family members (grandfather, grandmother, father, mother and aunt) respectively. ABO blood group identification was performed by the blood group serological method. Human genomic DNA was extracted using the nucleic acid extraction or purification reagent BT-01. ABO gene exons 2 to 7 were amplified by PCR. The PCR-specific products that were successfully amplified were sequenced by Sanger method. Taking ABO*A1.01 as the reference sequence, the ABO gene sequences of the newborn and her family members were analyzed to determine the ABO genotype. The procedures followed in this study were approved by the Ethics Committee of Henan Children's Hospital (Ethics No.: 2022-K-L036).
RESULTS:
The serological results of ABO blood group showed that the newborn, her grandfather, father and aunt were all incompatible with the forward and reverse typing. The blood group phenotype of the newborn was AwB or B(A), the blood group phenotype of the grandfather was A2B or B(A), the blood group phenotype of the father and aunt were A2B, and the blood group phenotype of the grandmother and mother were both O. The screening test results of hemolytic disease of the newborn showed that the free test detected IgG anti-A1 antibody, while the elution test, direct antiglobulin test and antibody screening results were all negative. The Sanger sequencing results showed that the newborn had variations of c.261delG, c.297A>G, c.526C>G, c.657C>T, c.703G>A, c.796C>A and c.930G>A. Her grandfather had variations of c.297A>G, C.526C>G, c.657C>T, c.703G>A, c.796C>A, c.803G>C and c.930G>A. Her grandmother had variations of c.106G>T, c.188G>A, c.189C>T, c.220C>T, c.261delG, c.297A>G, c.646T>A, c.681G>A, c.771C>T and c.829G>A. Her father and aunt had variations of c.106G>T, c.188G>A, c.189C>T, c.220C>T, c.261delG, c.297A>G, c.526C>G, c.646T>A, c.657C>T, c.681G>A, c.703G>A, c.771C>T, c.796C>A, c.829G>A and c.930G>A. Her mother had variations of c.106G>T, c.188G>A, c.189C>T, c.220C>T, c.261delG, c.297A>G, c.646T>A, c.681G>A, c.771C>T, and c.829G>A.The genotype of the newborn was ABO*BA.06/ABO*O.01.01, her grandfather was ABO*BA.06/ABO*B.01, her grandmother was ABO*O.01.02/ABO*O.01.02, her father and aunt were ABO*BA.06/ABO*O.01.02, and her mother was ABO*O.01.01/ABO*O.01.02. The ABO*BA.06 allele of the newborn, grandfather, father and aunt was caused by the c.803C>G variation in exon 7 based on the ABO*B.01 allele. The ABO*BA.06 allele can be stably inherited in this family.
CONCLUSION
The blood type of neonatal patients with B(A)06 subtype can be accurately determined by gene sequencing technology. If the forward typing is ≤ 3+ agglutination intensity in newborn ABO blood group identification, the reason should be carefully analyzed, and the molecular biology technology and family gene sequencing results should be used to jointly determine if necessary.
Humans
;
ABO Blood-Group System/genetics*
;
Female
;
Pedigree
;
Male
;
Infant, Newborn
;
Asian People/genetics*
;
Genotype
;
China
;
Blood Grouping and Crossmatching
;
Hyperbilirubinemia, Neonatal/blood*
;
East Asian People
2.Cell Autophagy of Digestive System Tumors Induced by Active Ingredients in Traditional Chinese Medicine: A Review
Wenjun LI ; Chengzhi WANG ; Zhenyao YANG ; Mingyang HE ; Gelei ZHAO ; Dongdong LI ; Peimin LIU
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(3):314-320
As one of the most common malignant tumors, digestive system tumors exhibit an increase in the incidence and mortality year by year. Its pathogenesis is complex, making it difficult to carry out early prevention. Autophagy is a process in which cells use lysosomes to degrade their organelles and macromolecules to maintain cellular homeostasis under the regulation of autophagy-related genes. Cellular autophagy has a dual regulatory effect on the tumor microenvironment, which always affects the occurrence and development of digestive system tumors. Therefore, the effect and mechanism of action of cellular autophagy on digestive system tumors have become a hot topic in tumor therapy in recent years. Meanwhile, the remarkable research results of targeted autophagy drugs indicate that cellular autophagy may become an important target for anti-digestive system tumors. Traditional Chinese medicine (TCM) has been widely used in the comprehensive treatment of digestive system tumors with good efficacy. A variety of active ingredients in TCM, such as flavonoids, glycosides, terpenoids, quinones, and alkaloids, can increase the expression of autophagy-associated proteins microtubule-associated protein 1 light chain 3 (LC3)Ⅱ/Ⅰ, autophagy-related gene (ATG)5, ATG7, inhibit the expression of autophagy-related protein p62 , and induce autophagy in digestive system tumor cells, thereby exerting the anti-digestive system tumor effect. By summarizing the research results in recent years on the modulation of cell autophagy by active ingredients in TCM to fight against digestive system tumors, this paper analyzed the relevant signaling pathways, regulatory factors, and functional characteristics of cell autophagy modulation, so as to elucidate the mechanism by which active ingredients of TCM induce autophagy and to provide ideas and references for clinical application.
3.Cell Autophagy of Digestive System Tumors Induced by Active Ingredients in Traditional Chinese Medicine: A Review
Wenjun LI ; Chengzhi WANG ; Zhenyao YANG ; Mingyang HE ; Gelei ZHAO ; Dongdong LI ; Peimin LIU
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(3):314-320
As one of the most common malignant tumors, digestive system tumors exhibit an increase in the incidence and mortality year by year. Its pathogenesis is complex, making it difficult to carry out early prevention. Autophagy is a process in which cells use lysosomes to degrade their organelles and macromolecules to maintain cellular homeostasis under the regulation of autophagy-related genes. Cellular autophagy has a dual regulatory effect on the tumor microenvironment, which always affects the occurrence and development of digestive system tumors. Therefore, the effect and mechanism of action of cellular autophagy on digestive system tumors have become a hot topic in tumor therapy in recent years. Meanwhile, the remarkable research results of targeted autophagy drugs indicate that cellular autophagy may become an important target for anti-digestive system tumors. Traditional Chinese medicine (TCM) has been widely used in the comprehensive treatment of digestive system tumors with good efficacy. A variety of active ingredients in TCM, such as flavonoids, glycosides, terpenoids, quinones, and alkaloids, can increase the expression of autophagy-associated proteins microtubule-associated protein 1 light chain 3 (LC3)Ⅱ/Ⅰ, autophagy-related gene (ATG)5, ATG7, inhibit the expression of autophagy-related protein p62 , and induce autophagy in digestive system tumor cells, thereby exerting the anti-digestive system tumor effect. By summarizing the research results in recent years on the modulation of cell autophagy by active ingredients in TCM to fight against digestive system tumors, this paper analyzed the relevant signaling pathways, regulatory factors, and functional characteristics of cell autophagy modulation, so as to elucidate the mechanism by which active ingredients of TCM induce autophagy and to provide ideas and references for clinical application.
4.Risk prediction models of recurrence after percutaneous endoscopic lumbar discectomy:a systematic review and meta-analysis
Weijie YU ; Dongdong CAO ; Tianci GUO ; Puyu NIU ; Jialin YANG ; Simin WANG ; Aifeng LIU
Chinese Journal of Tissue Engineering Research 2026;30(3):749-759
OBJECTIVE:Postoperative recurrence is a common complication of percutaneous endoscopic lumbar discectomy for lumbar disc herniation,which can significantly increase the risk of reoperation.A well-performing risk prediction model can help identify high-risk groups early and prevent postoperative recurrence.This study systematically evaluated the risk prediction model for postoperative recurrence after percutaneous endoscopic lumbar discectomy to provide a reference for surgical decision-making.METHODS:The PubMed,Embase,Web of Science,CNKI,WanFang Data,VIP,and CBM were electronically searched to collect studies on the recurrence risk prediction models after percutaneous endoscopic lumbar discectomy from inception to July 1,2024.Two reviewers independently screened the literature and extracted data.The models' risk of bias,applicability,and report quality were assessed using prediction model risk of bias assessment tool(PROBAST)and Transparent Reporting of a Multivariable Prediction Model for Individual Prognosis or Diagnosis(TRIPOD)tools,respectively.Meta-analysis of postoperative recurrence rate of percutaneous endoscopic lumbar discectomy and related predictors was performed using Revman 5.4 software.RESULTS:(1)A total of 15 studies were included,all of which were retrospective studies,including 24 models for predicting the risk of recurrence after percutaneous endoscopic lumbar discectomy.(2)The PROBAST evaluation results indicated that all 15 studies exhibited a high risk of bias.Regarding applicability,two studies demonstrated a low risk,while 13 presented a high risk.(3)Regarding the TRIPOD reporting quality,the overall quality across the 15 studies was low.The primary reasons for this low compliance included the failure to report blinding,a lack of explanation for the sample size calculation method,lack of detailed description of missing data processing methods,and lack of information such as introduction to the model used.(4)Furthermore,the area under the receiver operating characteristic curve for the model ranged from 0.684 to 0.972,with the number of potential predictor variables varying from 15 to 28.(5)The results of meta-analysis showed that the postoperative recurrence rate of lumbar disc herniation patients treated with percutaneous endoscopic lumbar discectomy was 12%(95%CI=9.0%-15.0%),Modic changes(OR=6.72,95%CI=3.90-11.59),body mass index(OR=1.28,95%CI=1.10-1.49),work intensity(OR=3.22,95%CI=1.85-5.59),age(OR=2.28,95%CI=1.50-3.48),and smoking history(OR=2.65,95%CI=1.75-4.00)were independent influencing factors for postoperative recurrence of percutaneous endoscopic lumbar discectomy(all P<0.05).CONCLUSION:The overall predictive performance of the recurrence risk prediction models after percutaneous endoscopic lumbar discectomy is satisfactory;however,the model exhibits a high overall risk of bias and applicability,coupled with low reporting quality.Additionally,there is a lack of prospective research and external validation.Future,risk prediction models should consider factors such as Modic changes,body mass index,work intensity,age,and smoking history as potential predictors.
5.Risk prediction models of recurrence after percutaneous endoscopic lumbar discectomy:a systematic review and meta-analysis
Weijie YU ; Dongdong CAO ; Tianci GUO ; Puyu NIU ; Jialin YANG ; Simin WANG ; Aifeng LIU
Chinese Journal of Tissue Engineering Research 2026;30(3):749-759
OBJECTIVE:Postoperative recurrence is a common complication of percutaneous endoscopic lumbar discectomy for lumbar disc herniation,which can significantly increase the risk of reoperation.A well-performing risk prediction model can help identify high-risk groups early and prevent postoperative recurrence.This study systematically evaluated the risk prediction model for postoperative recurrence after percutaneous endoscopic lumbar discectomy to provide a reference for surgical decision-making.METHODS:The PubMed,Embase,Web of Science,CNKI,WanFang Data,VIP,and CBM were electronically searched to collect studies on the recurrence risk prediction models after percutaneous endoscopic lumbar discectomy from inception to July 1,2024.Two reviewers independently screened the literature and extracted data.The models' risk of bias,applicability,and report quality were assessed using prediction model risk of bias assessment tool(PROBAST)and Transparent Reporting of a Multivariable Prediction Model for Individual Prognosis or Diagnosis(TRIPOD)tools,respectively.Meta-analysis of postoperative recurrence rate of percutaneous endoscopic lumbar discectomy and related predictors was performed using Revman 5.4 software.RESULTS:(1)A total of 15 studies were included,all of which were retrospective studies,including 24 models for predicting the risk of recurrence after percutaneous endoscopic lumbar discectomy.(2)The PROBAST evaluation results indicated that all 15 studies exhibited a high risk of bias.Regarding applicability,two studies demonstrated a low risk,while 13 presented a high risk.(3)Regarding the TRIPOD reporting quality,the overall quality across the 15 studies was low.The primary reasons for this low compliance included the failure to report blinding,a lack of explanation for the sample size calculation method,lack of detailed description of missing data processing methods,and lack of information such as introduction to the model used.(4)Furthermore,the area under the receiver operating characteristic curve for the model ranged from 0.684 to 0.972,with the number of potential predictor variables varying from 15 to 28.(5)The results of meta-analysis showed that the postoperative recurrence rate of lumbar disc herniation patients treated with percutaneous endoscopic lumbar discectomy was 12%(95%CI=9.0%-15.0%),Modic changes(OR=6.72,95%CI=3.90-11.59),body mass index(OR=1.28,95%CI=1.10-1.49),work intensity(OR=3.22,95%CI=1.85-5.59),age(OR=2.28,95%CI=1.50-3.48),and smoking history(OR=2.65,95%CI=1.75-4.00)were independent influencing factors for postoperative recurrence of percutaneous endoscopic lumbar discectomy(all P<0.05).CONCLUSION:The overall predictive performance of the recurrence risk prediction models after percutaneous endoscopic lumbar discectomy is satisfactory;however,the model exhibits a high overall risk of bias and applicability,coupled with low reporting quality.Additionally,there is a lack of prospective research and external validation.Future,risk prediction models should consider factors such as Modic changes,body mass index,work intensity,age,and smoking history as potential predictors.
6.Expert consensus on prognostic evaluation of cochlear implantation in hereditary hearing loss.
Xinyu SHI ; Xianbao CAO ; Renjie CHAI ; Suijun CHEN ; Juan FENG ; Ningyu FENG ; Xia GAO ; Lulu GUO ; Yuhe LIU ; Ling LU ; Lingyun MEI ; Xiaoyun QIAN ; Dongdong REN ; Haibo SHI ; Duoduo TAO ; Qin WANG ; Zhaoyan WANG ; Shuo WANG ; Wei WANG ; Ming XIA ; Hao XIONG ; Baicheng XU ; Kai XU ; Lei XU ; Hua YANG ; Jun YANG ; Pingli YANG ; Wei YUAN ; Dingjun ZHA ; Chunming ZHANG ; Hongzheng ZHANG ; Juan ZHANG ; Tianhong ZHANG ; Wenqi ZUO ; Wenyan LI ; Yongyi YUAN ; Jie ZHANG ; Yu ZHAO ; Fang ZHENG ; Yu SUN
Journal of Clinical Otorhinolaryngology Head and Neck Surgery 2025;39(9):798-808
Hearing loss is the most prevalent disabling disease. Cochlear implantation(CI) serves as the primary intervention for severe to profound hearing loss. This consensus systematically explores the value of genetic diagnosis in the pre-operative assessment and efficacy prognosis for CI. Drawing upon domestic and international research and clinical experience, it proposes an evidence-based medicine three-tiered prognostic classification system(Favorable, Marginal, Poor). The consensus focuses on common hereditary non-syndromic hearing loss(such as that caused by mutations in genes like GJB2, SLC26A4, OTOF, LOXHD1) and syndromic hereditary hearing loss(such as Jervell & Lange-Nielsen syndrome and Waardenburg syndrome), which are closely associated with congenital hearing loss, analyzing the impact of their pathological mechanisms on CI outcomes. The consensus provides recommendations based on multiple round of expert discussion and voting. It emphasizes that genetic diagnosis can optimize patient selection, predict prognosis, guide post-operative rehabilitation, offer stratified management strategies for patients with different genotypes, and advance the application of precision medicine in the field of CI.
Humans
;
Cochlear Implantation
;
Prognosis
;
Hearing Loss/surgery*
;
Consensus
;
Connexin 26
;
Mutation
;
Sulfate Transporters
;
Connexins/genetics*
7.Study on the clinical efficacy of FMEA in optimizing management of blood purification equipment
Haiyu FAN ; Wei JIANG ; Yingjie NIE ; Dongdong YANG
China Medical Equipment 2025;22(4):129-134
Objective:To explore the clinical efficacy value of the medical failure mode,and failure mode and effect analysis(FMEA)mode in equipment management of the department of optimizing blood purification equipment.Methods:Based on the management concept of medical FMEA,a FMEA management mode for equipment was constructed to manage the hemodialysis equipment in the blood purification department of the First Affiliated Hospital of Hebei North University.A total of 83 used hemodialysis equipment in the blood purification department of our hospital from October 2022 to September 2024 were selected,and they were managed respectively by using conventional management mode and FMEA management mode.The differences of operation quality of equipment,comprehensive efficiency of equipment and the management capabilities of managers who used the equipment between two kinds of management modes were compared.Results:The average values of failure rate of equipment,self-repair rate,maintenance rate,and standardized operation rate of using FMEA management mode were respectively(4.72±0.11)%,(90.62±3.44)%,(95.42±2.43)%and(96.22±1.48)%.The failure rate of FMEA management mode was lower than that of conventional management mode,while the self-repair rate,maintenance rate,and standardized operation rate were higher than those of conventional management mode,and the differences were statistically significant(t=108.568,13.658,9.318,10.354,P<0.05).The average values of availability ratio of equipment,ratio of performance index,and ratio of quality index of adopting FMEA management mode were respectively(91.04±2.65)%,(96.94±2.31)%and(97.66±1.19)%,which were higher than those of conventional management mode,and the differences were statistically significant(t=19.330,13.085,14.889,P<0.05).The scores of job responsibilities,basic knowledge for equipment,guarantee capabilities for operation and management performance of manager were respectively(94.12±2.76),(92.03±2.50),(91.35±2.62)and(93.65±3.28)in using the FMEA management mode,which were all higher than those of the conventional management mode,and the differences were statistically significant(t=7.630,11.027,17.311,11.645,P<0.05).Conclusion:The application of medical FMEA management mode in the management for hemodialysis equipment in the blood purification department can improve the quality of equipment operation,and reduce the failure frequency of equipment,and enhance the overall utilization efficiency of equipment,and improve the quality of clinical services in the department.
8.Genetic analysis of weak expression of ABO blood group antigens in neonates
Jiali YANG ; Ding ZHAO ; Wei LI ; Xiaopan ZHANG ; Zhihao LI ; Dongdong TIAN
Chinese Journal of Blood Transfusion 2025;38(1):85-90
[Objective] To perform genetic analysis on samples with weak agglutination and mixed agglutination of ABO blood group antigens in neonates, and to investigate the molecular biological characteristics of ABO subtypes in neonates. [Methods] Serological identification of ABO blood group was performed by tube method and microcolumn gel method. The ABO exons 2-7 were amplified by PCR, and the amplified products were sequenced by Sanger sequencing method to determine the genotype. [Results] Among the ABO blood group serological results of 14 neonates, 8 cases showed weakened A antigen, and 6 cases showed weakened B antigen. Seven samples were identified with ABO subtype alleles, with genotypes as A102/B101+c.538C>T, Aw26/B102, A205/O02, A205/B101(2 cases), Aw26/O02, B(A)06/O01, B101/O01(3 cases), A102/O01(2 cases), A102/B101 and B101/O02. Additionally, three other family members were also found to carry B(A)06 allele in a pedigree investigation. [Conclusion] For samples showing weakened antigens in ABO blood type identification of neonates, it is necessary to consider the possibility of ABO subtype in addition to age factors, and genetic testing can be used to prevent missed detection of ABO subtypes in neonates.
9.TCM Treatment of Lung Cancer Based on AMPK Signaling Pathway: A Review
Chengzhi WANG ; Yifan LIU ; Zhenyao YANG ; Wenjun LI ; Xiaoqing ZHANG ; Dongdong LI ; Peimin LIU
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(21):291-298
As a common malignant tumor of the respiratory system, the incidence and mortality of lung cancer are still rising year by year. Its pathogenesis is complex, the prognosis is poor, and it seriously affects human physical and mental health. Although existing Western medical treatments can inhibit tumor growth to a certain extent and relieve patients' painful symptoms, problems such as postoperative recurrence and metastasis, numerous adverse reactions, and the tendency to develop drug resistance make the overall therapeutic effect unsatisfactory. Therefore, it is urgent to seek more efficient and safer treatments. Adenosine monophosphate-activated protein kinase (AMPK) signaling pathway can regulate the growth, differentiation, apoptosis, and autophagy of lung cancer cells, and is extensively involved in the occurrence and development of lung cancer, thus being regarded as an important target for anti-lung cancer therapy. Traditional Chinese medicine (TCM) exerts anti-lung cancer effects through multiple pathways, mechanisms, and targets, with advantages such as preventing postoperative recurrence and metastasis, alleviating the adverse reactions of radiotherapy and chemotherapy, and improving quality of life. TCM has therefore become a key approach in current anti-lung cancer treatment. Studies have found that active components of Chinese medicine, including flavonoids, saponins, polyphenols, and terpenes, as well as Chinese medicine compound prescriptions such as Guiqi Yiyuan extract, Qingzao Jiufei decoction, and Yiqi Fuzheng formula, have significant regulatory effects on AMPK and its interacting signaling pathways. These effects include inducing autophagy and apoptosis of lung cancer cells, modulating macrophage polarization, inhibiting epithelial-mesenchymal transition, reversing drug resistance, and blocking the cell cycle, thereby exerting anti-lung cancer activity. This article reviews and summarizes recent studies on the anti-lung cancer effects of TCM, and discusses the mechanisms by which TCM regulates the AMPK signaling pathway in the treatment of lung cancer, with the aim of providing ideas and references for the development of new clinical anti-lung cancer drugs.
10.TCM Treatment of Lung Cancer Based on AMPK Signaling Pathway: A Review
Chengzhi WANG ; Yifan LIU ; Zhenyao YANG ; Wenjun LI ; Xiaoqing ZHANG ; Dongdong LI ; Peimin LIU
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(21):291-298
As a common malignant tumor of the respiratory system, the incidence and mortality of lung cancer are still rising year by year. Its pathogenesis is complex, the prognosis is poor, and it seriously affects human physical and mental health. Although existing Western medical treatments can inhibit tumor growth to a certain extent and relieve patients' painful symptoms, problems such as postoperative recurrence and metastasis, numerous adverse reactions, and the tendency to develop drug resistance make the overall therapeutic effect unsatisfactory. Therefore, it is urgent to seek more efficient and safer treatments. Adenosine monophosphate-activated protein kinase (AMPK) signaling pathway can regulate the growth, differentiation, apoptosis, and autophagy of lung cancer cells, and is extensively involved in the occurrence and development of lung cancer, thus being regarded as an important target for anti-lung cancer therapy. Traditional Chinese medicine (TCM) exerts anti-lung cancer effects through multiple pathways, mechanisms, and targets, with advantages such as preventing postoperative recurrence and metastasis, alleviating the adverse reactions of radiotherapy and chemotherapy, and improving quality of life. TCM has therefore become a key approach in current anti-lung cancer treatment. Studies have found that active components of Chinese medicine, including flavonoids, saponins, polyphenols, and terpenes, as well as Chinese medicine compound prescriptions such as Guiqi Yiyuan extract, Qingzao Jiufei decoction, and Yiqi Fuzheng formula, have significant regulatory effects on AMPK and its interacting signaling pathways. These effects include inducing autophagy and apoptosis of lung cancer cells, modulating macrophage polarization, inhibiting epithelial-mesenchymal transition, reversing drug resistance, and blocking the cell cycle, thereby exerting anti-lung cancer activity. This article reviews and summarizes recent studies on the anti-lung cancer effects of TCM, and discusses the mechanisms by which TCM regulates the AMPK signaling pathway in the treatment of lung cancer, with the aim of providing ideas and references for the development of new clinical anti-lung cancer drugs.

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