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.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.
5.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*
6.Prediction of Pharmacoresistance in Drug-Naïve Temporal Lobe Epilepsy Using Ictal EEGs Based on Convolutional Neural Network.
Yiwei GONG ; Zheng ZHANG ; Yuanzhi YANG ; Shuo ZHANG ; Ruifeng ZHENG ; Xin LI ; Xiaoyun QIU ; Yang ZHENG ; Shuang WANG ; Wenyu LIU ; Fan FEI ; Heming CHENG ; Yi WANG ; Dong ZHOU ; Kejie HUANG ; Zhong CHEN ; Cenglin XU
Neuroscience Bulletin 2025;41(5):790-804
Approximately 30%-40% of epilepsy patients do not respond well to adequate anti-seizure medications (ASMs), a condition known as pharmacoresistant epilepsy. The management of pharmacoresistant epilepsy remains an intractable issue in the clinic. Its early prediction is important for prevention and diagnosis. However, it still lacks effective predictors and approaches. Here, a classical model of pharmacoresistant temporal lobe epilepsy (TLE) was established to screen pharmacoresistant and pharmaco-responsive individuals by applying phenytoin to amygdaloid-kindled rats. Ictal electroencephalograms (EEGs) recorded before phenytoin treatment were analyzed. Based on ictal EEGs from pharmacoresistant and pharmaco-responsive rats, a convolutional neural network predictive model was constructed to predict pharmacoresistance, and achieved 78% prediction accuracy. We further found the ictal EEGs from pharmacoresistant rats have a lower gamma-band power, which was verified in seizure EEGs from pharmacoresistant TLE patients. Prospectively, therapies targeting the subiculum in those predicted as "pharmacoresistant" individual rats significantly reduced the subsequent occurrence of pharmacoresistance. These results demonstrate a new methodology to predict whether TLE individuals become resistant to ASMs in a classic pharmacoresistant TLE model. This may be of translational importance for the precise management of pharmacoresistant TLE.
Epilepsy, Temporal Lobe/diagnosis*
;
Animals
;
Drug Resistant Epilepsy/drug therapy*
;
Electroencephalography/methods*
;
Rats
;
Anticonvulsants/pharmacology*
;
Neural Networks, Computer
;
Male
;
Humans
;
Phenytoin/pharmacology*
;
Adult
;
Disease Models, Animal
;
Female
;
Rats, Sprague-Dawley
;
Young Adult
;
Convolutional Neural Networks
7.Application of artificial intelligence in pulmonary nodule analysis and lung segment resection planning for standardized training in thoracic surgery
Chao GAO ; Xiaoyun ZHOU ; Chao GUO ; Hongsheng LIU ; Shanqing LI ; Naixin LIANG
Chinese Journal of Clinical Thoracic and Cardiovascular Surgery 2025;32(04):469-472
Objective To explore the application of artificial intelligence (AI) in the standardized training of thoracic surgery residents, specifically in enhancing clinical skills and anatomical understanding through AI-assisted lung nodule identification and lung segment anatomy teaching. Methods Thoracic surgery residents undergoing standardized training at Peking Union Medical College Hospital from September 2023 to September 2024 were selected. They were randomly assigned to a trial group and a control group using a random number table. The trial group used AI-assisted three-dimensional reconstruction technology for lung nodule identification, while the control group used conventional chest CT images. After basic teaching and self-practice, the ability to identify lung nodules on the same patient CT images was evaluated, and feedback was collected through questionnaires. Results A total of 72 residents participated in the study, including 30 (41.7%) males and 42 (58.3%) females, with an average age of (24.0±3.0) years. The trial group showed significantly better overall diagnostic accuracy for lung nodules (91.9% vs. 73.3%) and lung segment identification (100.0% vs. 83.70%) compared to the control group, and the reading time was significantly shorter [ (118.5±10.5) s vs. (332.1±20.2) s, P<0.01]. Questionnaire results indicated that 94.4% of the residents had a positive attitude toward AI technology, and 91.7% believed that it improved diagnostic accuracy. Conclusion AI-assisted teaching significantly improves thoracic surgery residents’ ability to read images and clinical thinking, providing a new direction for the reform of standardized training.
8.The therapeutic effects of combining transcranial direct current stimulation with intermittent oroesophageal tube feeding in treating dysphagia among ischemic stroke survivors: A double-blind randomized and controlled study
Zengjin LIU ; Rongzhi CAO ; Heping LI ; Liugen WANG ; Xi ZENG ; Xiaoyun LI
Chinese Journal of Physical Medicine and Rehabilitation 2025;47(9):822-826
Objective:To observe any therapeutic effect of transcranial direct current stimulation (tDCS) combined with intermittent oroesophageal tube feeding (IOE) on dysphagia among ischemic stroke survivors.Methods:Eighty-four ischemic stroke survivors with dysphagia were randomized into an observation group and a control group, each of 42. In addition to conventional rehabilitation, swallowing training and IOE, the observation group received tDCS while the control group received sham stimulation. Before and after 14 days of this treatment, both groups′ swallowing, life quality and depression were evaluated using the Penetration Aspiration Scale (PAS), the Functional Oral Intake Scale (FOIS), the Dysphagia Handicap Index (DHI), and a 9-item patient health questionnaire (PHQ-9).Results:There were no significant differences between the two groups before the experiment in terms of their general data, their average PAS, FOIS, DHI or PHQ-9 scores, or the incidence of depression. After the treatment, significant improvement was observed in the above indicators among both groups, but with significantly better average PAS, FOIS, DHI [(51.25±6.78) vs. (44.78±5.75)] and PHQ-9 [(4.17±1.15) vs. (6.01±1.93)] scores and less depression (14.29% vs. 42.86%) in the observation group compared with the control group.Conclusions:Combining tDCS with IOE better improves swallowing function, depression, and life quality after an ischemic stroke.
9.Establishment and application of a red blood cell gene database in regular blood donors
Zhihui FENG ; Xiaoyun CHI ; Bin HU ; Li LIU ; Dawei LI ; Shutao PANG
Chinese Journal of Blood Transfusion 2025;38(8):1056-1062
Objective: To establish a "regular blood donor red blood cell gene database"(hereafter referred to as the "database") by applying molecular biology techniques for red blood cell antigens genotyping and utilizing information technology software, and to determine the significance and application value of this "database" in precise red blood cell transfusion. Methods: Fifteen antigens [C, c, E, e, M, N, S, s, Fy (a), Fy (b), Jk (a), Jk (b), Le (a), Le (b), P1] across six blood group systems (RHCE, MNS, FY, JK, Lewis and P1PK) were detected among 9 426 regular blood donors using the TaqMan-MGB method combined with an improved U-shaped microplate approach. With the assistance of information technology software, the "database" was integrated into the overall inventory management system of the blood supply chain. This enabled comprehensive management of regular blood donor and patient information, test results, specific antigen screening for regular blood donors, graded antigen matching between donors and patients, and rare blood type donor records. Results: The TaqMan-MGB method successfully detected paired antigens (C/c, E/e, M/N, S/s, Fy
/Fy
, Jk
/Jk
) within a single reaction well using a standardized PCR amplification protocol. This method provided a reliable testing solution for clinical institutions and empowered blood collection and supply organizations with high-throughput screening capabilities. In the blood supply chain, genotyped red blood cells accounted for 13.2% (721/5 462 U) of the total inventory, with 95.34% (348/365) originating from donors who donated two units of blood. Moreover, the “database” fulfilled 94.06% (443/471 U) of compatible transfusion requirements from medical institutions and effectively managed rare blood type donors. Conclusion: The establishment of the "database" facilitated the transition of blood compatibility testing from traditional serological methods to molecular biology-based gold standard techniques, significantly advancing the implementation of precise transfusion strategies based on multi-antigen matching between donors and patients.
10.Effect of Thunberg Fritillary extract combination with acute inflammatory stimulation on non-small cell lung cancer
Hanxue WANG ; Shuyan XING ; Jia YANG ; Xiaoyun LIU ; Dongxue YE ; Guoying ZHANG ; Rong RONG ; Yong YANG
Chinese Journal of Immunology 2025;41(8):1800-1805
Objective:To study the growth inhibition of Thunberg Fritillary extract on non-small cell lung cancer.Methods:The Thunberg Fritillary extract was prepared and characterized by UPLC-QE/MS.Replicated Lewis lung carcinoma ectopic tumor-bear-ing mouse model,yeast injection induced acute inflammation,compared the effect of Thunberg Fritillary extract combination with acute inflammation on the growth,tumor volume and tumor suppression rate of Lewis lung carcinoma mice,and determine the content of inflammatory factors by the flow CBA method(IL-6,IL-1β,IL-1α,IL-10,IL-27,IL-17A,IL-12p70,IL-23,TNF-α,IFN-γ,IFN-β,GM-CSF,MCP-1).Results:The inhibition of Lewis lung carcinoma mice was similar to that of cisplatin alone,and the tumor suppression rate was 35%;the tumor suppression rate of Thunberg Fritillary extract combined with acute inflammatory stimulation of yeast was 62%,1.8 times that of cisplatin alone.The decrease in the expressions of cytokines IL-23,MCP-1 after acute inflammatory stimulation in yeast was associated with tumor suppression;while the increased expressions of IL-6,IL-1β,IL-1α,IL-10,IL-27,IL-17A,IL-12p70,TNF-α,IFN-γ,IFN-β and GM-CSF cytokines were associated with tumor suppression.Conclusion:The Thun-berg Fritillary extract combination with acute inflammation can play a positive role against non-small cell lung cancer,which will pro-vide new research ideas and methods for the prevention and treatment of non-small cell lung cancer.

Result Analysis
Print
Save
E-mail