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.

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

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.

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.

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.

Objective:To identify the incidence and prevalence of inflammatory bowel disease (IBD) in the northern Chinese population of Jinan, Shangdong Province, along with its temporal trends from 2005 to 2022.Methods:By utilizing the data from the Jinan basic medical insurance system, a population-based IBD cohort was constructed. This facilitated the computation of both the incidence and prevalence rates of IBD, alongside their temporal trends throughout the 2005 to 2022 timeframe. The 95% confidence intervals were estimated using poisson regression.Results:The overall incidence rate of IBD showed a yearly increasing trend, with age-standardized incidence rates rising from 0.03/100 000 in 2005 to 5.39/100 000 in 2022. The age-standardized incidence rate of ulcerative colitis (UC) increased from 0.03/100 000 in 2005 to 4.97/100 000 in 2022. The age-standardized incidence rate of Crohn's disease (CD) rose from 0.05/100 000 in 2011 to 0.44/100 000 in 2022. The crude prevalence of IBD increased from 0.60/100 000 in 2005 to 32.39/100 000 in 2022. Specifically, the crude prevalence of UC increased from 0.60/100 000 in 2005 to 31.44/100 000 in 2022, while the crude prevalence of CD increased from 0.05/100 000 in 2011 to 1.19/100 000 in 2022.Conclusions:Analysis of recent medical insurance data reveals a continuous uptrend in both the incidence and prevalence of IBD in Jinan, a northern city in China. This underscores the urgent need for enhanced medical resources and healthcare guaruntee to ensure the well-being of individuals afflicted with IBD.

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.

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.