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.

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.

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.

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*

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

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.

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.

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.

Objective Based on the characteristics of common diseases in primary care,it explores the achievabili-ty of internet first diagnosis from the perspective of clinical doctors in large tertiary hospitals,providing a reference for promoting the policy of internet first diagnosis.Methods Stratified sampling was used to select about 10 attending physicians or above from each specialty.A total of 164 doctors were surveyed on the achievability of specific diseases.Chi-square test or Fisher's exact test were conducted to identify the influencing factors of the achievabili-ty of each disease.Results Among the common diseases in primary care,13 diseases(25.49％)had a low degree of achievability for diagnosis,18 diseases(35.29％)had a medium degree,and 20 diseases(39.22％)had a high de-gree.For treatment,19 diseases(37.25％)had a low degree of achievability,22 diseases(43.14％)had a medium degree,and 10 diseases(19.61％)had a high degree.The emergency level,severity,diagnostic complexity,ex-pected treatment outcome,information provided,and diagnostic technology matching degree all had significant impacts on the achievability of Internet first diagnosis(P＜0.05).Conclusion The feasibility of the first diagnosis of common diseases through online medical services varies greatly.It is suggested that a differentiated online first diagnosis ser-vice system for common diseases be established based on the differences in the feasibility of the first diagnosis through the Internet,and the feasibility of the first diagnosis through the Internet be enhanced by developing smart medical technologies.

[Purpose]To analyze the trends of incidence and mortality of lung cancer in Jinshan District of Shanghai from 2002 to 2020.[Methods]The data of lung cancer was obtained from the Shanghai Cancer Registry and the population data was obtained from the Jinshan District Bureau of Public Security.The crude rate and age-standardized rate of incidence and mortality(ASIR and ASMR),and the average annual percentage change(AAPC)of lung cancer were calculated.[Results]From 2002 to 2020,8 982 new cases and 6 081 deaths of lung cancer were reported.The ASIR of lung cancer increased from 36.55/105 to 56.72/105 with an AAPC of 3.34％(P＜0.05).The ASIR was also increased in male and female,with higher increase in female(AAPC=8.56％)than that in male(AAPC=0.50％).The ASMR decreased from 32.25/105 to 23.06/105 with an AAPC of-2.08％(P＜0.05).The ASMR was decreased both in male and female,with higher decline in male(AAPC=-2.71％)than that in female(AAPC=-0.43％).The disease risk in male was higher than that in female,while the difference in ASIR between male and female was decreasing.The inci-dence and mortality increased with age.[Conclusion]From 2002 to 2020,the incidence of lung cancer in Jinshan District was increasing,but the age-standardized mortality was decreasing.The incidence and mortality of lung cancer varied among different ages and sexes,so targeted preven-tion and control measures should be implemented.