Objective To precisely identify the para-Bombay blood types in cancer patients at our hospital, establish a robust system for the identification of challenging blood types in our laboratory, and provide a foundation for precise transfusion practices. Methods We retrospectively analyzed the blood type results of 91 874 cancer patients from January 1, 2019, to December 31, 2023. Conventional serological methods were used to screen for blood types, and suspected para-Bombay blood types were identified. Further analysis was performed using Pacific Biosciences (PacBio) single-molecule real-time sequencing and Sanger sequencing was used to determine the genotypes of the ABO, FUT1, and FUT2 genes. Results Eight cases of para-Bombay blood type were confirmed through serological and molecular biological methods. The FUT1 genotypes identified were: 5 cases of h1h1 (homozygous mutation 551_552delAG) and 3 cases of h1h2 (compound heterozygous mutations of 551_552delAG and 880_882delTT). The FUT2 genotypes identified were: 2 cases of Se³⁵⁷/Se^{357, 716} and 4 cases of Se³⁵⁷/Se³⁵⁷. Additionally, one sample revealed a novel heterozygous mutation, 818C>T, in exon 7 of the ABO gene, which was confirmed by PacBio sequencing to be located on the O haplotype. Conclusion PacBio sequencing technology demonstrates significant advantages in analyzing the haplotypes of para-Bombay blood type genes. This approach supports the establishment of a robust system for the identification of challenging blood types and provides novel evidence for precise transfusion practices in cancer patients.
Humans ; Neoplasms/genetics* ; Fucosyltransferases/genetics* ; ABO Blood-Group System/genetics* ; Male ; High-Throughput Nucleotide Sequencing/methods* ; Galactoside 2-alpha-L-fucosyltransferase ; Female ; Retrospective Studies ; Genotype ; Middle Aged ; Blood Grouping and Crossmatching/methods* ; Adult ; Mutation ; Aged

Alzheimer's disease (AD) is a common neurodegenerative disorder among the elderly, and BuChE has emerged as a potential therapeutic target. In this study, we reported the development of compound 8e, a selective reversible BuChE inhibitor (eqBuChE IC₅₀ = 0.049 μmol/L, huBuChE IC₅₀ = 0.066 μmol/L), identified through extensive virtual screening and lead optimization. Compound 8e demonstrated favorable blood-brain barrier permeability, good drug-likeness property and pronounced neuroprotective efficacy. Additionally, 8e exhibited significant therapeutic effects in zebrafish AD models and scopolamine-induced cognitive impairments in mice. Further, 8e significantly improved cognitive function in APP/PS1 transgenic mice. Proteomics analysis demonstrated that 8e markedly elevated the expression levels of very low-density lipoprotein receptor (VLDLR), offering valuable insights into its potential modulation of the Reelin-mediated signaling pathway. Thus, compound 8e emerges as a novel and potent BuChE inhibitor for the treatment of AD, with significant implications for further exploration into its mechanisms of action and therapeutic applications.

Objective:To analyze the distribution of tumor necrosis factor-alpha（TNF-α）308 gene loci polymorphism in children with febrile seizures（FS）and to explore the correlation between TNF-α 308 gene polymorphisms and FS in children.Methods:A total of 320 children diagnosed with FS in the Department of Emergency，Shanghai Children's Hospital from September 1st，2020 to June 30th，2021 were enrolled as the study subjects，which were divided into simple febrile seizures（SFS）group（232 cases）and complex febrile seizures（CFS）group（88 cases）based on their clinical characteristics，and the clinical characteristics and laboratory indexes of the two groups were compared. Children with no history of convulsions were selected as the control group（160 cases）. The high-resolution melting and gene sequencing technology were used to analyze the polymorphism of TNF-α 308 gene in each group and the distribution of different gene types and allele frequencies among the groups was compared. A multivariate Logistic regression model was constructed to analyze the relationship between TNF-α 308 gene polymorphism and FS.Results:The age，mean corpuscular volume，mean corpuscular hemoglobin and platelet distribution width of the CFS group were significantly higher than those in the SFS group，and the difference was statistically significant（all P<0.05）.There was no significant difference in gender distribution，family history of FS，history of FS，body temperature at time of convulsions，WBC，Hb，CRP and PLT between the two groups（all P>0.05）.The genotype frequency distribution of TNF-α 308 polymorphism in the three groups was in line with the Hardy-Weinberg equilibrium（ P>0.05）.The AA genotype of TNF-α 308 locus was not detected in the study.Compared with the control group［17 cases（10.6%）］，the distribution proportion of GA genotype in the CFS group［22cases（25.0%）］and the SFS group［52cases（22.4%）］was increased，and the difference was statistically significant（ χ2＝11.126， P＝0.004）；Compared with the control group［17 frequencies（5.3%）］，the frequency distribution proportion of allele A in the CFS group［22 frequencies（12.5%）］and SFS group［52 frequencies（11.2%）］was also increased，and the difference was statistically significant（ χ2＝9.960， P＝0.007）. Adding control factors such as gender，age，family history of FS，body temperature at time of convulsions and blood routine markers，the multivariate Logistic regression model was constructed to show that there was no statistically significant association between TNF-α 308 genotype and CFS in children（ OR＝1.805，95% CI：0.926~3.519， P＝0.083）. Conclusion:In this study，there was no significant correlation between TNF-α 308 gene loci polymorphism and CFS in children.

Objective To investigate the correlation between serum insulin like growth factor 1 receptor(IGF1R)and epidermal growth factor-like domain-containing protein 7(EGFL7)levels and the condition and pregnancy outcome of patients with preeclampsia(PE).Methods A total of 120 PE patients admitted to the hospital from January 2021 to January 2024(PE group)and 60 healthy pregnant women during the same peri-od(control group)were selected.The PE patients were divided into severe PE group(68 cases)and mild PE group(52 cases)according to their conditions,and divided into poor group(62 cases)and good group(68 ca-ses)according to the pregnancy outcome.Enzyme-linked immunosorbent assay was used to detect serum IGF1R,EGFL7 levels.Using the pregnancy outcome of PE patients as the dependent variable,multivariate un-conditional Logistic regression was used to determine the influencing factors of their pregnancy outcomes,and receiver operating characteristic curve was used to evaluate the predictive value of serum IGF1R and EGFL7 levels.Results Compared with the control group,serum IGF1R levels were reduced and EGFL7 levels were increased in the PE group(t=-16.908,16.234,P＜0.001).Serum IGF1R levels were decreased and EGFL7 levels were increased in the severe PE group compared with the mild PE group(t=-5.317,5.305,P＜0.001).The incidence of adverse pregnancy outcomes in PE patients was 51.67％(62/120).The independent risk factors for adverse pregnancy outcomes in patients with PE were severe PE(OR=3.906,95％CI:1.305-11.689),elevated 24-h urinary protein(OR=2.030,95％CI:1.290-3.194),elevated EGFL7(OR=1.116,95％CI:1.040-1.198),and the independent protective factor was elevated IGF1R(OR=0.908,95％CI:0.865-0.954,P＜0.05).The area under the curve for serum IGF1R and EGFL7 levels alone and in com-bination to predict adverse pregnancy outcomes in PE patients was 0.791(95％CI:0.707-0.860),0.784(95％CI:0.700-0.854),and 0.866(95％CI:0.781-0.911),and serum IGF1R and EGFL7 levels were grea-ter jointly(Z=2.456,2.244,P＜0.05).Conclusion Decreased serum IGF1R levels and increased EGFL7 levels are associated with exacerbation and adverse pregnancy outcomes in patients with PE,and the combina-tion of serum IGF1R and EGFL7 levels is of high value in predicting adverse pregnancy outcomes in patients with PE.

Objective:To explore the influencing factors of early death (within 3 months) in adult glioma patients, and to construct a risk prediction model.Methods:Retrospective analysis was performed on the clinical data of 228 adult glioma patients admitted to the 909th Hospital (Dongnan Hospital of Xiamen University) from June 2020 to June 2024. Patients were divided into a death group ( n=32) and a survival group ( n=196) based on whether death occurred within 3 months, and the clinical data between the two groups were compared. Multivariate logistic regression was used to analyze the influencing factors of death within 3 months, a logistic regression prediction model was constructed, and receiver operator characteristic (ROC) curve was plotted to analyze the predictive value of the model. Results:There were no statistically significant differences between the two groups in age, gender, hypertension, diabetes, tumor location, tumor involvement, neurological impairment, maximum tumor diameter, chemotherapy, or radiotherapy (all P>0.05). The death group showed higher proportions of cerebral herniation ( χ2=20.74, P<0.001), hospital admission Karnofsky performance status (KPS) score ≤70 ( χ2=26.66, P<0.001), tumor grade Ⅲ-Ⅳ ( χ2=28.70, P<0.001), MGMT promoter unmethylation ( χ2=10.25, P=0.001), IDH wild-type ( χ2=6.18, P=0.013), and incomplete tumor resection ( χ2=10.37, P=0.001) compared with the survival group. Multivariate analysis revealed that cerebral herniation ( OR=19.78, 95% CI: 5.33-73.41, P<0.001), hospital admission KPS score ≤70 ( OR=19.64, 95% CI: 5.54-69.59, P<0.001), tumor grade Ⅲ-Ⅳ ( OR=9.40, 95% CI: 3.02-29.27, P<0.001), MGMT promoter unmethylation ( OR=4.28, 95% CI: 1.18-15.54, P=0.027), and incomplete tumor resection ( OR=9.50, 95% CI: 2.72-33.23, P<0.001) were independent risk factors for early death in glioma patients. The risk prediction model for early death in glioma patients constructed based on these indicators was logit ( P) =-18.04+2.96×cerebral herniation (with=1, without=0) +2.98×hospital admission KPS score (≤70=1, >70=0) +2.24×tumor grade (Ⅲ-Ⅳ=1, Ⅰ-Ⅱ=0) +1.45×MGMT promoter methylation (no=1, yes=0) +2.25×complete tumor resection (no=1, yes=0). ROC curve analysis demonstrated that this model had predictive value for early death in glioma patients, with an area under the curve of 0.920 (95% CI: 0.868-0.972), a sensitivity of 0.842, and a specificity of 0.906. Conclusions:Cerebral herniation, hospital admission KPS score ≤70, tumor grade Ⅲ-Ⅳ, MGMT promoter unmethylation, and incomplete tumor resection are independent risk factors for early death in adult glioma patients. The risk prediction model constructed based on these indicators has good predictive value.

Objective:To investigate the application value of the teaching evaluation method guided by cultivating "excellent doctors" in the clinical teaching of dermatology and venereology.Methods:A non-simultaneous control study was conducted, and the medical students who received theoretical learning and clinical internship in Department of Dermatology and Venereology, Affiliated Hospital of North Sichuan Medical College, from March 2020 to February 2022, were enrolled as subjects. According to the order of enrollment, 32 students who were enrolled from March 2020 to February 2021 were set up as control group, and 31 students who were enrolled from March 2021 to February 2022 were set up as experimental group. The students in the control group received lecture-based learning, and those in the experimental group received clinical teaching using a teaching and evaluation method guided by cultivating "excellent doctors". After the course ended, the two groups were compared in terms of the scores of theoretical knowledge and operation skills, clinical thinking ability [Self-Assessment of Clinical Reasoning and Reflection (SACRR)], core competence [Mini-Clinical Evaluation Exercise (Mini CEX)], and degree of satisfaction with teaching. SPSS 25.0 software was used to perform the independent samples t-test, the Mann-Whitney U test, the chi-square test, and the rank sum test. Results:One student in the control group voluntarily withdrew from the study, and one student in the experimental group did not complete the contents of internship. Finally, 31 students in the control group and 30 in the experimental group were included in the study. After 4 weeks of internship, compared with the control group, the experimental group had significantly higher scores of theoretical knowledge (88.00±4.30 vs. 85.71±4.12, t=2.12, P=0.040) and operation skills (91.87±3.99 vs. 88.23±3.84, t=3.63, P<0.05). After 4 weeks of internship, compared with the control group, the experimental group had significantly higher information systematization score (47.23±3.11 vs. 45.16±3.00), analysis problem score (34.87±2.30 vs. 31.29±2.30), truth finding score (16.30±1.49 vs. 14.45±1.52), reflective ability score [3.50 (3.00, 4.00) vs. 3.00 (3.00, 3.00)], and total score of SACRR (101.87±4.47 vs. 93.90±4.47), with significant differences between the two groups ( t/ Z=2.65, 6.17, 4.79, 3.15, and 6.96, all P<0.05). After 4 weeks of internship, the experimental group had a significantly better core competence than the control group ( Z=2.12, P=0.030); compared with the control group, the experimental group had significantly higher classroom teaching score (20.17±1.98 vs. 18.45±2.23, t=3.17, P<0.05), clinical practice score (19.83±2.10 vs. 17.65±2.17, t=4.00, P<0.05), learning plan score (18.63±2.24 vs. 17.03±2.15, t=2.85, P<0.05), teaching resource score (20.07±1.82 vs. 18.58±2.00, t=3.04, P<0.05) and total score (78.70±3.67 vs. 71.71±4.13, t=6.98, P<0.05). Conclusions:The application of the teaching and evaluation method guided by cultivating "excellent doctors" in the clinical teaching of dermatology and venereology can improve clinical theoretical knowledge, practical operation skills, clinical thinking ability, and core ability among interns and thus help to improve teaching quality. Therefore, it holds promise for clinical application.

Objective To investigate the radioprotection and management of yttrium-90 resin microsphere therapy based on the survey and monitoring of treatment institutions in Guangdong Province, China, and to provide technical reference and basis for the subsequent radiation management of this therapy. Methods Based on the technical data on yttrium-90 resin microsphere therapy collected from both domestic and international sources, an investigation was conducted on some yttrium-90 resin microsphere treatment institutions in Guangdong Province. Radiation level monitoring was carried out in the radioactive workplaces of three hospitals that had conducted yttrium-90 resin microspheres therapy. Environmental X-γ dose rate meters were used for detecting radiation dose equivalent rates, while α and β surface contamination monitors were used for detecting radioactive surface contamination. Additionally, urine samples from two patients were collected within 24 hours post-operation, and total radioactivity was analyzed using low-background α and β counters. Results During the yttrium-90 resin microsphere therapy, the radiation dose equivalent rates around the digital subtraction angiography rooms in the three hospitals ranged from 0.15 to 0.26 μSv/h, and the radiation dose equivalent rates around the observation wards ranged from 0.17 to 0.69 μSv/h. The β radioactive surface contamination values in the workplace control zones ranged from ＜0.07 to 18.7 Bq/cm², while the values in the supervised zones were all less than 0.07 Bq/cm². The total β radioactivity in the urine of the two patients within 24 hours post-operation accounted for approximately 0.0010% to 0.0013% of the yttrium-90 infusion dose. Conclusion The radiation levels at the monitoring sites in the workplaces of the three hospitals are below the national standard limits. The radioprotection and management of yttrium-90 resin microsphere therapy in the three hospitals in Guangdong Province are satisfactory.

Objective To investigate the radioprotection and management of yttrium-90 resin microsphere therapy based on the survey and monitoring of treatment institutions in Guangdong Province, China, and to provide technical reference and basis for the subsequent radiation management of this therapy. Methods Based on the technical data on yttrium-90 resin microsphere therapy collected from both domestic and international sources, an investigation was conducted on some yttrium-90 resin microsphere treatment institutions in Guangdong Province. Radiation level monitoring was carried out in the radioactive workplaces of three hospitals that had conducted yttrium-90 resin microspheres therapy. Environmental X-γ dose rate meters were used for detecting radiation dose equivalent rates, while α and β surface contamination monitors were used for detecting radioactive surface contamination. Additionally, urine samples from two patients were collected within 24 hours post-operation, and total radioactivity was analyzed using low-background α and β counters. Results During the yttrium-90 resin microsphere therapy, the radiation dose equivalent rates around the digital subtraction angiography rooms in the three hospitals ranged from 0.15 to 0.26 μSv/h, and the radiation dose equivalent rates around the observation wards ranged from 0.17 to 0.69 μSv/h. The β radioactive surface contamination values in the workplace control zones ranged from ＜0.07 to 18.7 Bq/cm², while the values in the supervised zones were all less than 0.07 Bq/cm². The total β radioactivity in the urine of the two patients within 24 hours post-operation accounted for approximately 0.0010% to 0.0013% of the yttrium-90 infusion dose. Conclusion The radiation levels at the monitoring sites in the workplaces of the three hospitals are below the national standard limits. The radioprotection and management of yttrium-90 resin microsphere therapy in the three hospitals in Guangdong Province are satisfactory.

Objective To investigate the dietary patterns of rural residents in the high-incidence areas of esophageal cancer (EC), and to explore the clustering and influencing factors of risk factors associated with high-incidence characteristics. Methods A special structured questionnaire was applied to conduct a face-to-face survey on the dietary patterns of rural residents in Yanting county of Sichuan Province from July to August 2021. Univariate and multivariate logistic regression models were used to analyze the influencing factors of risk factor clustering for EC. Results There were 838 valid questionnaires in this study. A total of 90.8% of rural residents used clean water such as tap water. In the past one year, the people who ate fruits and vegetables, soybean products, onions and garlic in high frequency accounted for 69.5%, 32.8% and 74.5%, respectively; the people who ate kimchi, pickled vegetables, sauerkraut, barbecue, hot food and mildew food in low frequency accounted for 59.2%, 79.6%, 68.2%, 90.3%, 80.9% and 90.3%, respectively. The clustering of risk factors for EC was found in 73.3% of residents, and the aggregation of two risk factors was the most common mode (28.2%), among which tumor history and preserved food was the main clustering pattern (4.6%). The logistic regression model revealed that the gender, age, marital status and occupation were independent influencing factors for the risk factors clustering of EC (P<0.05). Conclusion A majority of rural residents in high-incidence areas of EC in Yanting county have good eating habits, but the clustering of some risk factors is still at a high level. Gender, age, marital status, and occupation are influencing factors of the risk factors clustering of EC.

Objective To analyze the expression levels of serum microRNA(miR)-211 and miR-202 in patients with Alzheimer's disease and their correlation with cognitive function,anxiety and depression.Methods A total of 90 patients with Alzheimer's disease admitted to Hebei Yanda Hospital from March 2019 to March 2022 were selected as the research group.According to the Clinical Dementia Rating(CDR)score,the patients were grouped into mild group(n=24),moderate group(n=48)and severe group(n=18).Another 90 healthy individuals who underwent physical examination were collected as the control group.The expression levels of miR-211 and miR-202 in serum were compared.Pearson method and Spearman method were used to analyze serum miR-211 and miR-202 and their correlation with cognitive function,anxiety and depression.Logistic regression analysis was used to analyze the influencing factors of Alzheimer's disease.Results The expression levels of serum miR-211(0.59±0.16,1.01±0.31)and miR-202(0.35±0.10,1.00±0.32)were significantly reduced in the research group and control group,with significant differences(t=11.422,18.393,all P<0.05).Serum miR-211(0.73±0.21,0.62±0.17,0.32±0.08)expression levels,miR-202(0.51±0.15,0.33±0.10,0.19±0.04)expression levels,mini-mental state examination(MMSE)score(22.54±1.41 score,19.35±1.01 score,16.23±1.00 score)and Montreal cognitive assessment(MoCA)score(25.35±2.60 score,18.59±1.32 score,16.59±1.24 score)in the mild,moderate and severe groups gradually decreased,and the differences were statistically significant(F=32.006,46.917,163.048,163.703,all P<0.05).Compared with mild group,the serum miR-211,miR-202,MMSE and MoCA scores of severe group and moderate group were reduced,and the differences were statistically significant(t=3.685～25.375,all P<0.05).The mild,moderate and severe groups had a gradual increase in Hamilton anxiety scale(HAMA)score(12.34±1.27 score,20.59±2.09 score and 31.29±2.19 score)and Hamilton depression scale(HAMD)score(14.35±2.13 score,23.89±2.20 score and 35.35±1.21 score),and the differences were statistically significant(F=496.059,553.939,all P<0.05).According to Pearson correlation analysis,miR-211 was positively correlated with miR-202(r=0.651,P<0.05).According to Spearman correlation analysis,miR-211 and miR-202 were positively correlated with MMSE and MoCA(r=0.539～0.585,all P<0.05)and negatively correlated with HAMA and HAMD(r=-0.651～-0.539,all P<0.05).Logistic regression analysis showed that the low expression of miR-211[OR(95%CI):5.321(1.648～17.180)]and miR-202[OR(95%CI):3.158(1.989～5.012)]were risk factors for Alzheimer's disease(P<0.05).Conclusion The serum expression levels of miR-211 and miR-202 in patients with Alzheimer's disease were reduced,indicating miR-211 and miR-202 were closely related to cognitive function,anxiety and depression.