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.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*
5.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
6.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.
7.Efficacy of enteral nutrition in preventing bone marrow suppression in patients with nasopharyngeal carcinoma undergoing concurrent radiotherapy and chemotherapy
Jinhua LIAO ; Lipeng LIU ; Jinwei LI ; Xiaoyun LIU ; Lu ZHANG
Journal of Shenyang Medical College 2025;27(5):492-496,513
Objective:To investigate the efficacy of enteral nutrition in preventing bone marrow suppression in patients with nasopharyngeal carcinoma undergoing concurrent radiotherapy and chemotherapy.Methods:The clinical data of 150 nasopharyngeal carcinoma patients undergoing concurrent radiotherapy and chemotherapy treatment in our hospital from Sep 2022 to Sep 2024 were analyzed.They were divided into the conventional group(74 cases)and the enteral nutrition group(76 cases)according to different nutritional intervention plans.The conventional group received conventional nutritional therapy,while the enteral nutrition group received enteral nutrition therapy.The occurrence of bone marrow suppression,blood routine indicators,nutritional status indicators were compared,and quality of life was evaluated with cancer patient quality of life measurement scale(EORTC-QLQ-C30)and compared.Results:The total incidence of bone marrow suppression in the enteral nutrition group was lower than that in the conventional group(P<0.05),and the degree of bone marrow suppression was milder than that in the conventional group(P<0.05).At the end of treatment,the enteral nutrition group had higher levels of hemoglobin,granulocytes count,red blood cells count,white blood cells count,platelets count,body mass index,upper arm circumference,waist circumference,and scores of each functional domain of EORTC-QLQ-C30 compared to the conventional group(P<0.05).Conclusion:Enteral nutrition therapy for nasopharyngeal carcinoma patients undergoing concurrent radiotherapy and chemotherapy can prevent bone marrow suppression,improve blood routine indicators and nutritional status,and enhance quality of life.
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.Development and implementation of a comprehensive process guidance service applet of the multi-campus hospitals
Binbin SONG ; Jun LIN ; Lei FENG ; Ying WANG ; Zhehao LIU ; Xiaoyun FENG ; Jing YANG ; Qinfen GUO ; Bingling ZHANG
Modern Hospital 2025;25(2):278-281
To address the challenges associated with traditional medical treatment modalities that hinder the efficiency of healthcare delivery,and to facilitate the sharing of medical service information across multiple campuses via mobile platforms,the First Affiliated Hospital to Zhejiang University School of Medicine has proactively leveraged digital intelligence to innovate its medical service model.This program involved the development of a comprehensive process guidance service applet on the Alipay platform specifically for outpatient services.The applet offers intelligent support services,standardizes electronic authentication processes,coordinates medical resources across various hospital locations,and establishes an integrated service delivery system that seamlessly combines online and offline interactions.This approach has optimized the outpatient treatment process,enhanced the patient experience,and fostered standardized management of medical services across multiple campuses.
10.Twelve practical recommendations for enhancing the reliability of medical simulation-based assessment
Li LI ; Jihai LIU ; Yadian XIE ; Di SHI ; Xiaoyun HU ; Zhiqiao CHEN ; Haiyan AN
Chinese Journal of Medical Education Research 2025;24(7):865-871
Medical simulation-based assessments have emerged as a vital method for evaluating the clinical competence of healthcare professionals. These assessments provide examinees with opportunities to practice clinical skills in a controlled environment that mirrors real-life medical scenarios. However, assessment organizers must implement specific measures to ensure that these assessments yield valid and reliable results. The reliability of simulation-based assessments is a crucial component of quality assurance. This article delineates twelve practical recommendations to enhance the reliability of medical simulation-based assessments across the three key dimensions of raters, simulation environment, and assessment tools. These recommendations include ① selecting raters with relevant professional backgrounds and extensive experience in simulation-based teaching and assessment; ②providing raters with standardized training for the assessment; ③conducting mock ratings and piloting to reach consensus among raters; ④preventing excessive work hours or cognitively overload while rating; ⑤providing standardized personnel with adequate training and re-training; ⑥implementing immediate and long-term quality assurance measures for standardized patient role performance; ⑦maintaining consistent operation of simulation equipment; ⑧guaranteeing the simulation provides adequate functional fidelity for the examinees; ⑨clearly defining each element and item in assessment tools while controlling their quantity; ⑩ensuring consistency when multiple assessment tools are used; 11using assessment tools with evidence of construct validity when possible; and 12establishing systems to ensure consistency in data (scoring) collection while safeguarding data security. These strategies aim to assist medical educators in developing structured and reliable simulation-based assessment schemes.

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