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.A qualitative research on psychological experience of operating room nurses participating in organ transplant surgery
Zhe WANG ; Chunling WANG ; Xiaoyun NI ; Min LIU ; Chengyao GUO ; Minwei SHEN ; Li ZHANG ; Chenwei ZHANG
Chinese Journal of Clinical Medicine 2026;33(4):675-682
Objective To explore the psychological experiences of operating room nurses participating in organ transplant surgeries, providing a basis for medical institutions to develop targeted psychological support programs. Methods Using a phenomenological research method, semi-structured, in-depth, face-to-face interviews were conducted from January to March 2026 with 17 operating room nurses who had participated in organ transplant surgeries at a tertiary hospital in Shanghai. Interviews were recorded, and observations were made. The interview data were analyzed, summarized, and themes were refined using Colaizzi’s seven-step analysis method. Results The psychological experiences of operating room nurses participating in organ transplant surgeries were identified as 5 main themes and 14 sub-themes: emotional impact and empathy load (shock and grief confronting life and death, deep empathy for patients and families, awe and gratitude towards organ donors); pressure experience and physical-mental exhaustion (urgency under time pressure, load of operational precision requirements, excessive consumption of physical and mental resources); cognitive appraisal and meaning construction (reappraisal of professional value, deep reflection on the meaning of life, positioning and identification of one’s role); coping strategies and adjustment process (active learning and experiential reflection, self-emotional regulation and social support); growth experience and psychological transformation (enhancement of psychological resilience, establishment of professional confidence, deepening of professional mission). Conclusions Operating room nurses undergo complex and profound psychological experiences while participating in organ transplant surgeries, enduring strong emotional impact and physical-mental stress while also achieving psychological growth and deepening professional identity through practice. Nursing managers should pay attention to the mental health of this group and construct a multi-level support system to promote their physical and psychological well-being.
4.Aberrant Increase in Lipid Synthesis Exacerbates Diabetic Nephropathy and Folic Acid-induced Kidney Injury.
Yuzhi CHEN ; Xiaoyun JIANG ; Qihui DAI ; Gonghua HUANG ; Xinguang LIU ; Meng YANG
Journal of Sun Yat-sen University(Medical Sciences) 2026;47(1):119-132
ObjectiveTo investigate the changes and effects of fatty acid metabolism in folic acid (FA)-induced kidney injury and diabetic nephropathy (DN) mouse models. MethodsThe FA-induced kidney injury model was established via intraperitoneal injection of FA. Nine adult C57BL/6J mice were randomly allocated to two groups: saline control group (Saline, n=5) and FA intervention group (n=4). Mice in the FA group received a single intraperitoneal injection of FA (250 mg/kg), whereas those in the Saline group were administered an equivalent volume of normal saline. The DN model was constructed using a high-fat diet combined with streptozotocin (STZ) injection. Eleven adult C57BL/6J mice were randomly divided into two groups: normal diet control group (ND, n=6) and DN model group (DN, n=5). The ND group was fed a normal diet throughout the experiment; the DN group was maintained on a high-fat diet for 8 weeks, followed by a single intraperitoneal injection of STZ (100 mg/kg), and then continued on the high-fat diet until week 16. (1) Hematoxylin and eosin (HE) and sirius red staining were used to observe pathological changes in the kidneys of the four groups of mice. (2) RNA-Seq was performed on mouse kidney tissues to screen for differentially expressed genes (DEGs), followed by Gene Ontology (GO), Kyoto Encyclopedia of Genes and Genomes (KEGG), and Gene Set Enrichment Analysis (GSEA). RT-qPCR was used to detect the mRNA levels of fatty acid synthesis and fibrosis-related genes. Lipid droplet accumulation was assessed by Oil Red O staining on frozen kidney sections. (3) Human renal cortical proximal tubular epithelial cells (HK-2) and proximal tubular epithelial cells (PTECs) were treated with 10 ng/mL recombinant human TGF-β1 or high glucose. RT-qPCR was used to measure the mRNA levels of fatty acid synthesis and fibrosis-related genes in HK-2 cells. Lipid droplet accumulation in HK-2 cells and PTECs was detected using Bodipy 493/503 staining. (4) HK-2 cells were treated with 100 µmol/L palmitic acid (PA). Bodipy 493/503 staining was used to evaluate lipid droplet accumulation. (5) SA-β-gal staining was used to assess senescence in kidney tissues from all four mouse groups. Cellular senescence and the expression of senescence-associated secretory phenotype (SASP) factors in PA-treated HK-2 cells were assessed using SA-β-gal staining, Western blot, and RT-qPCR. The effect of PA-treated PTECs on renal fibroblast activation was assessed by immunofluorescence. Results(1) Both FA and DN groups showed pathological changes in kidney tissue, including renal tubular structural damage and collagen fiber deposition. (2) DEGs in both FA and DN groups were significantly enriched in metabolism-related pathways, especially lipid metabolism pathways. Compared to the Saline control, the expression of fatty acid synthesis genes Srebp1 and Fasn was significantly upregulated in the FA group (Srebp1: t=2.445, P=0.044 4; Fasn: t=2.571, P=0.037 0). Compared to the ND group, Srebp1, Acc1, and Fasn gene expression was upregulated in the DN group (Srebp1: t=3.354, P=0.010 0; Acc1: t=2.602, P=0.031 5; Fasn: t=2.358, P=0.046 1). The fibrosis-related gene Col1a1 was also upregulated in both FA and DN groups (FA: t=2.628, P=0.034 0; DN: t=3.602, P=0.007 0), accompanied by pathological signs of lipid accumulation. (3) In HK-2 cells treated with TGF-β1 or high glucose, the mRNA expression levels of SREBP1 (F=15.41, P=0.004 3; TGFβ: P=0.002 9; HG: P=0.045 2), ACC1 (F=30.30, P=0.000 7; HG: P=0.001 4), and FASN (F=18.76, P=0.002 6; TGFβ: P=0.001 7; HG: P=0.031 0) were significantly upregulated. Both treatments also induced lipid accumulation in HK-2 cells and PTECs. (4) There was an increase in senescent cells in the kidneys of both the FA and DN groups. PA treatment induced lipid accumulation, accelerated senescence, and activated fibroblasts in renal tubular epithelial cells. ConclusionsTranscriptional abnormalities of lipid metabolism-related genes were observed in the kidneys of both FA-induced kidney injury and diabetic nephropathy models. Excessive fatty acid synthesis leads to lipid accumulation, which induces senescence in PTECs and ultimately promotes the development and progression of fibrosis.
5.Design, Implementation, and Multidimensional Evaluation of the "Rapid Recognition and Response for Critically Ill Patients" Course
Xiao SONG ; Yuyin GENG ; Hong WANG ; Xiaoyun HU ; Meishan LU ; Shicheng MA ; Yihang WANG ; Jihai LIU ; Jiangshan WANG ; Huadong ZHU
Medical Journal of Peking Union Medical College Hospital 2026;17(5):1265-1271
To evaluate the design and implementation effects of the "Rapid Recognition and Management of Critically Ill Patients" course, and to provide a reference for the improvement of situational simulation teaching in emergency and critical care settings. All medical staff who participated in thiscourse training in June 2025 were enrolled as study subjects. The course adopted a blended teaching method combining online theoretical selfstudy with offline situational simulation. Multi-dimensional evaluation was conducted through theoretical assessments, skill assessments, and satisfaction surveys regarding the course and instructors. A total of 142 trainees were enrolled, including 103 clinical postdoctoral fellows (72.5%), 24 standardized training nurses (16.9%), and 15 standardized training resident physicians (10.6%). The mean theoretical examination score was 93.27±6.95, with statistically significant differences among different trainee categories (η2=0.346, 95% CI: 0.241-1.000, The course achieved preliminary and favorable training outcomes. Theoretical examination scores, skill assessment scores, and course evaluation ratings were mutually independent, reflecting distinct dimensions of competence and learning experience. It is recommended that theoretical and skill assessments be set as independent passing thresholds, and that targeted training be strengthened in the areas of arrhythmia recognition and ventricular fibrillation management.
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.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
8.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.
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.Simultaneous Analysis of Microcystins,Cylindrospermopsin,Anatoxin,and Nodularin in Lake Water by Liquid Chromatography-Tandem Mass Spectrometry
Guanxiang YUAN ; Qing LUO ; Guihua LIU ; Xiaoyun QIN ; Honghe LIU ; Zhaoying LÜ ; Jie JIANG
Journal of Sichuan University (Medical Sciences) 2025;56(5):1189-1196
Objective To establish a method for simultaneous determination of trace levels of microcystins,cylindrospermopsin,anatoxin,and nodularin in lake water based on liquid chromatography-tandem mass spectrometry(LC-MS/MS).Methods After being adjusted to alkaline conditions and mixed with six internal standards,the water samples were enriched using dual HLB and ENVI-Carb cartridges.The eluates were then evaporated under nitrogen,reconstituted,and subjected to instrumental analysis.Both water and acetonitrile containing 0.1%formic acid were used as mobile phases.An ACQUITY UPLC? BEH C18 column(150 mm×2.1 mm,1.7 μm)was selected to separate the target cyanotoxins.Multiple reaction monitoring was applied for data acquisition,and quantification was accomplished using internal standard methods.Results Within certain concentration ranges,all 14 cyanotoxins examined in the study showed good linearity,with all correlation coefficients greater than 0.998.When the water volume was 100 mL,the limits of detection and quantification for the 14 cyanotoxins were 0.1-0.9 ng/L and 0.3-2.9 ng/L,respectively,and spiked recoveries and relative standard deviations were 81.7%-132.9%and 1.2%-14.9%,respectively.In the 10 lake water samples analyzed,cylindrospermopsin,anatoxin-α,and multiple microcystins were detected.Conclusion The method developed in the study has high-throughput capacity,as well as high sensitivity,accuracy,and reliability.The method can be applied in the simultaneous detection of microcystins,cylindrospermopsin,anatoxin,and nodularin in lake water.

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