1.Molecular mechanism of Ael blood group caused by ABO B.01-O.01.02 gene recombination
Xiaoyun BU ; Jing HAI ; Jiancheng LIU
Chinese Journal of Blood Transfusion 2026;39(4):534-539
Objective: To analyze the serological and molecular biological characteristics of one case with Ael subtype. Methods: ABO serological typing was performed using the tube method. ABO genotyping was conducted by sequence-specific primer polymerase chain reaction (PCR-SSP). The genotype was identified by Oxford Nanopore third-generation sequencing (TGS). Pymol, Polyphen-2, PROVEAN, and DUET were used to predict the effects of mutations on protein structure and function. Results: Serological testing identified an Ael subtype. PCR-SSP genotyping showed an A/O2 profile. TGS obtained two full-length ABO haplotype sequences: the first was ABO
O.01.02, and the second was a recombinant haplotype of ABO
B.01-O.01.02, with the recombination breakpoint mapped between c. 357-39 and c. 526G>C. Mutations on this recombinant allele included c. 297A>G, c. 646T>A, c. 681G>A, c. 771C>T, and c. 829G>A, among which c. 646T>A (p. Phe216Ile) and c. 829G>A (p. Val277Met) were two functional amino acid substitution sites. Protein structure modeling revealed alterations in local conformation and hydrogen bond network, and functional prediction indicated decreased protein stability. Conclusion: A recombination between ABO alleles B.01 and O.01.02 was identified in the region spanning intron 6 to exon 7, resulting in a B.01-O.01.02 recombinant gene. This recombinant leads to key amino acid substitutions in the B glycosyltransferase, causing local structural changes and decreased stability of the enzyme protein, ultimately manifesting as the Ael blood group phenotype.
2.Biological functions of SMYD5 and its role in disease
Fangfang ZHANG ; Haodan LIU ; Ruirui YANG ; Xuan LI ; Changli WANG ; Guangbin YE ; Xiaoyun BIN
Acta Universitatis Medicinalis Anhui 2026;61(4):782-788
SMYD5 is a ribosomal methyltransferase with SET and MYND structural domains, which is a member of the SMYD family and is expressed in a variety of tissues, including ovary and testis. This enzyme participates in biological processes such as gene expression regulation, cell development and differentiation, and maintenance of genomic stability through ribosomal protein methylation modification. In recent years, research on SMYD5 has increased in cancers including hepatocellular carcinoma, gastric adenocarcinoma, and lung cancer. Studies have revealed that SMYD5 exhibits high expression levels in various diseases including hepatocellular carcinoma, gastric adenocarcinoma, lung cancer, and inflammatory bowel disease, influencing the progression of these conditions. This review summarizes the role of SMYD5 in hepatocellular carcinoma, inflammatory bowel disease, and other biological functions, aiming to provide a reference for related disease research.
3.Ethical considerations of using the deceased as medical research subjects
Zhaolong LU ; Xiaoyun CHEN ; Yongchuan CHEN ; Mengjie YANG ; Qiang LIU ; Hui JIANG ; Zhonglin CHEN
Chinese Medical Ethics 2025;38(11):1447-1452
The relevant laws and regulations regarding the utilization of the deceased as medical research subjects are not yet fully developed in China nowadays. Taking the deceased as research subjects as a starting point, this paper discussed the definition of the deceased and the scope of their interest protection from multiple perspectives. It posited that the scope of interest protection for the deceased encompassed two components: spiritual personality interests and material personality interests represented by the remains. The spiritual personality interests of the deceased included identification information such as name, portrait, reputation, honor, privacy, and personal information, as well as medical and health information. The personal information of the deceased was not directly affected by the individual’s life and death status and remained relatively independent. In terms of ethical review, the research team approached from two perspectives: the remains and the personal information of the deceased. Based on the standard of whether the research subjects involve a human body, research with the remains of the deceased as the medical research subjects was classified as non-clinical research. According to the standard of whether a human body is clinically operated, research with the personal information of the deceased (including medical and health information) as the medical research subjects was recognized as clinical research without human research operation. This approach provided evidence for the application of existing laws and regulations in ethical review and record management. The ethical review of investigator-initiated clinical research conducted in medical and health institutions, as well as the regulatory conditions for exemption from ethical review, were examined. The forms, content, and acquisition of informed consent were summarized, and the risk-benefit characteristics of the research activity were evaluated, with a view to providing a basis for the smooth and compliant implementation of research activities involving the deceased as medical research subjects.
4.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
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Cochlear Implantation
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Prognosis
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Hearing Loss/surgery*
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Consensus
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Connexin 26
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Mutation
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Sulfate Transporters
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Connexins/genetics*
5.Recommendations for the clinical use of anti-amyloid-β monoclonal antibody for Alzheimer's disease(2025)
Nan ZHI ; Jinwen XIAO ; Rujing REN ; Binyin LI ; Jintao WANG ; Jieli GENG ; Wenwei CAO ; Yaying SONG ; Hualong WANG ; Shuguang CHU ; Guoping PENG ; Jun LIU ; Xiaoyun LIU ; Fang YUAN ; Wen WANG ; Ronghua DOU ; Xia LI ; Ling YUE ; Wenshi WEI ; Xiaoling PAN ; Xiangyang ZHU ; Dian HE ; Weinü FAN ; Jingping SHI ; Nan ZHANG ; Hui ZHAO ; Qin CHEN ; Cuibai WEI ; Xiaochun CHEN ; Gang WANG
Journal of Chongqing Medical University 2025;50(9):1133-1140
In recent years,significant breakthroughs have been achieved in the immunotherapy for Alzheimer's disease.In line with global advancements,two anti-amyloid-β monoclonal antibodies have been approved and successfully launched in China for clinical use.Lecanemab and Donanemab were officially used in June 2024 and April 2025 in China,respectively.In order to standardize the rational and safe application of anti-amyloid-β monoclonal antibodies for Alzheimer's disease in China,this article integrates recom-mendations from the clinical trials and real-world experience from the author's team and domestic peers to further update the recom-mendations for the clinical use of anti-amyloid-β monoclonal antibody based on the 2024 version.It includes indications for therapy,pre-treatment evaluation and preparation,administration protocols and safety measures during treatment,and post-treatment monitor-ing strategies.
6.Research progress of liquid biopsy in the diagnosis of pulmonary nodules
Chao LYU ; Xiaoyun WANG ; Liu LIU ; Darong WEI ; Fangzhen MOU
International Journal of Laboratory Medicine 2025;46(1):107-112
In China,lung cancer ranks first in the incidence and death of malignant tumors.Early diagnosis and timely treatment can significantly improve the survival rate of lung cancer.However,75%of patients are already in the advanced stage at the time of initial diagnosis,missing the best treatment opportunity.Lung nodules are the manifestations of early lung cancer.How to accurately distinguish benign and malignant pul-monary nodules and avoid missing diagnosis of malignant lung nodules and over-treatment of benign lung nod-ules are important clinical problems.Liquid biopsy has the advantages of non-invasiveness,high reproducibili-ty,operability,easy dynamic monitoring and overcoming tumor heterogeneity,which can realize early detection and diagnosis of malignant tumors.Besides,it is the most potential precision tumor detection technology,which is expected to become a breakthrough in the diagnosis of benign and malignant lung nodules.This arti-cle reviews the research and application of liquid biopsy in the diagnosis of lung nodules in recent years,in or-der to provide ideas for clinical application and future research.
7.A survey of natural radionuclide contents in agricultural soils in Hexi area, Gansu province
Fang WANG ; Yanjun WANG ; Hanyu ZHANG ; Yun WANG ; Jialong WU ; Xiaoyun LIU ; Wei SUN ; Qin CHEN
Chinese Journal of Radiological Medicine and Protection 2025;45(3):211-215
Objective:To investigate the contents of natural radionuclides in agricultural soils in some of Gansu Hexi area to accumulate the relevant basic data.Methods:A stratified sampling method was used to collect 146 soil samples in the area. ORTEC P-type HPGE gamma spectrometry system was used to measure radionuclides. The measurement data were collated and analyzed.Results:The activity concentrations measured were 232Th 18.94-108.39 Bq/kg, 226Ra 14.37-79.20 Bq/kg and 40K 440.03-1 358.18 Bq/kg, in turn with the mean values of (68.22±16.32), (47.90±11.12) and (763.90±133.93) Bq/kg, respectively. The difference in activity concentrations of 232Th, 226Ra and 40K in agricultural soils in different areas was statistically significant( H=50.87, 45.14, 40.28, P<0.05). Conclusions:The study on the activity concentrations of natural radionuclides in agricultural soils provides basic information for the transfer of radionuclides to crops, which needs further investigation, monitoring and analysis.
8.Study on the mechanism of ultrasound microbubble blasting assisted bone marrow mesenchymal stem cell transplantation in improving diabetic nephropathy
Kun ZHAO ; Yujin FENG ; Xiaoyun YANG ; Fen LIU ; Meinan ZONG ; Yi WANG
Journal of China Medical University 2025;54(10):937-941
Objective To explore the improvement effect of ultrasound microbubble blasting assisted bone marrow mesenchymal stem cells(BMSC)transplantation on diabetic nephropathy(DN)in terms of inflammatory response and renal function via the Toll like receptor 4(TLR-4)/nuclear factor-kappa B(NF-κB)signaling pathway,as well as its specific mechanism.Methods A rat DN model was estab-lished and randomly grouped into the following:Model group,BMSC group,BMSC+microbubble group,and BMSC+microbubble+TLR-4/NF-κB pathway activator lipopolysaccharide(LPS)group,with 12 rats in each group.Additionally,12 rats were selected as the control(CK)group.Biochemical and biuret analysis,HE and Masson staining,ELISA,and Western blotting testing were employed to detect fasting blood glucose(FBG),total cholesterol(TC),triglyceride(TG),serum creatinine(sCr),blood urea nitrogen(BUN),24-hour urinary total protein(24 h-UTP),pathological changes in renal tissue,fibrosis status,and the expression of interleukin-1 β(IL-1β),tumor necrosis factorα(TNF-α),TLR-4,and NF-κB proteins of rats in each group.Results The renal tissue in the CK group was structurally normal with few collagen fibers.The Model group showed obvious renal tissue lesions and severe collagen fiber deposition;the lesions in the BMSC group and BMSC+microvesicle group were alleviated in turn,while the lesions were aggravated after the addition of LPS compared with the BMSC+microvesicle group.Compared with the CK group,the levels of FBG,TC,TG,sCr,BUN,24 h-UTP,as well as the expression of IL-1β,TNF-α,TLR-4,and NF-κB proteins were increased in the Model group(P<0.05).Compared with the Model group,the above-men-tioned indices and protein expression were decreased in the BMSC group(P<0.05).Compared with the BMSC group,the above-men-tioned indices and protein expression were further decreased in the BMSC+microvesicle group(P<0.05).Compared with the BMSC+mi-crovesicle group,the above-mentioned indices and protein expression were increased in the BMSC+microvesicle+LPS group(P<0.05).Conclusion The improvement effect of ultrasound microbubble blasting-assisted BMSC transplantation on DN rats may be related to the inhibition of the TLR-4/NF-κB signaling pathway.
9.Relationship between autism spectrum disorder-like behaviors and resilience in adolescents
Longping ZENG ; Hui WANG ; Xinzhou TANG ; Xing SU ; Liyang ZHAO ; Zhaozheng JI ; Xiaoyun GONG ; Tingni YIN ; Qinyi LIU ; Bingxi SUN ; Xue LI ; Jing LIU
Chinese Mental Health Journal 2025;39(1):26-31
Objective:To discern the association between autism-like behaviors and resilience within the ado-lescent demographic.Methods:A total of 7 063 middle school students were selected to assess ASD-like behaviors and resilience in adolescents using the Autism Spectrum Screening Questionnaire(ASSQ)as well as the Resilience Scale for Chinese Adolescent(RSCA).Subgroups bounded by P5 and P95 of the total ASSQ score,a comparative analysis of the resilience scores between these groups was executed.A correlation evaluation and linear regression a-nalysis was carried out between ASSQ and RSCA scores from all participants.Results:The RSCA scores within the high ASSQ scoring group,were inferior to those in the low scoring group.ASSQ scores were negatively correlated with RSCA scores for the full sample(Ps<0.01);Social interaction scores on the ASSQ were negatively correlated with the five-factor RSCA scores(β=-0.23,-0.27,-0.11,-0.23,-0.37,Ps<0.05).Conclusion:There was a negative association between autism spectrum disorder-like behaviors and resilience in adolescents,with more severe social interaction symptoms being associated with poorer resilience.
10.Construction and verification of pertussis infection characteristic analysis and symptom combination prediction model in patients with cough
Jingjing ZHAO ; Yamin LIU ; Rui SUO ; Ruxianguli WUMAIER ; Shuangjun LIU ; Ying LI ; Xiaoyun ZHAO
Tianjin Medical Journal 2025;53(4):434-439
Objective To investigate the prevalence and symptoms of pertussis in patients with cough,and to predict individual risk based on the combination of symptoms.Methods A total of 1 025 patients with cough or contact with pertussis patients were included.Pertussis was confirmed by nasopharyngeal swab PCR.Patients were divided into the juvenile group(278 cases)and the adult group(747 cases)according to age.The duration of cough from onset to study participation,the visual analogue(VAS)score of cough degree and the number of basic symptoms(paroxysmal cough,vomiting after cough,crowing cough,pauses in breathing after cough and fever)were compared between the two groups.The confirmed patients were further grouped by age,and the different symptoms were compared.70%of the sample was used as the training set.Based on the combination of symptoms(paroxysmal cough,post-cough vomiting,chick-crooning cough and pauses in inspirations after coughing),multivariate Logistic regression was used to establish the prediction model and draw the nomogram.30%of the sample was used as the validation set,and the receiver operating characteristic(ROC)curve was drawn.The differentiation of the area under the curve(AUC)evaluation model was calculated.The calibration degree of the model was evaluated by Hosmer-Lemeshow test,and calibration curve was drawn to evaluate the model.Results By PCR,163 cases(15.9%)were confirmed as pertussis.The juvenile group had a longer duration of cough from onset to study participation than the adult group(P<0.05).The VAS score of cough severity was higher,and the number of basic symptoms of pertussis was more(P<0.01).In confirmed cases,the proportion of paroxysmal cough,vomiting after cough,crowing cough and inspiratory pause after cough was higher in the juvenile group than that in the adult group(P<0.01).In the diagnosed cases,the incidence of paroxysmal cough and post-cough vomiting were higher in the<1-year-old group compared to the 1-9-year-old group and the≥10-year-old group(P<0.05).The combination of paroxysmal cough,vomiting after cough,crowing cough and inspiratory pause after cough was selected by Logistic regression analysis to establish a nomogram model.The AUC of this model in the training set was 0.852,and the Hosmer-Lemeshow test χ2=0.208,P=0.901,and in the verification set,the AUC was 0.899,and the Hosmer-Lemeshow test χ2=4.202,P=0.122.The predicted value in the calibration curve was very close to the theoretical value in the training set and the verification set,and the fitting degree was high.Conclusion The infection rate of pertussis is high in patients with cough.The nomogram model based on combined symptoms has a better prediction effect on pertussis differentiation,which can provide reference for the monitoring of pertussis.

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