Objective: To analyze the serological phenotypes and molecular genetic characteristics of a proband with ABO forward and reverse typing discrepancy and their family members, and to investigate the molecular genetic mechanism underlying the Ael/AelB phenotype caused by the c. 575T>C variant on an ABO A1.02 background. Methods: Serological testing and adsorption-elution assays were performed for blood group identification of the proband and family members. PCR-SBT, cloning sequencing, and Nanopore third-generation sequencing were used to analyze ABO gene variants and haplotypes. Phyre2 and PyMOL were used to predict the effect of the p. Ile192Thr variant on the structure of glycosyltransferase A (GTA), and plasma GTA activity was evaluated using an in vitro transferase assay. Results: Among thirteen family members, four members showed a serological phenotype consistent with the Ael subtype and one with the AelB subtype. Cloning sequencing and third-generation sequencing confirmed that five family members carried the ABO A1.02 (c. 575T>C) variant, which co-segregated with the weak A phenotype in the family. Structural modeling suggested that p. Ile192Thr may alter the local spatial conformation and hydrogen-bond interactions of GTA. Plasma GTA activity testing showed markedly reduced GTA activity in the tested individuals. Conclusion: The ABO A1.02 (c. 575T>C) variant is associated with the Ael/AelB phenotype. The p. Ile192Thr substitution may weaken A antigen expression by altering GTA conformation and reducing enzymatic activity. This study provides additional evidence for the role of this variant in the Ael/AelB phenotype from the perspectives of familial inheritance, full-length haplotype analysis, and functional assessment, which is important for accurate ABO subtype identification and individualized transfusion strategies.

Objective:To establish an accurate retinal vascular network segmentation method for multiple fundus diseases, and to investigate the changing patterns of retinal vascular morphological parameters in these diseases.Methods:A retrospective study was conducted.Color fundus photography data of 829 patients with fundus diseases and 146 healthy adults were collected at Zhongshan Ophthalmic Center, Sun Yat-sen University from January 2020 to December 2023.The multi-path segmentation network was fine-tuned, and the color fundus photography data of diabetic retinopathy (DR), glaucoma and age-related macular degeneration (AMD) patients and healthy adults in the fundus image vessel segmentation public dataset were input for training until the loss value of the model stopped decreasing, and finally the trained multi-disease retinal vascular segmentation model was obtained.The retinal blood vessel morphological characteristics analysis method previously developed by our research group was used to analyze the subjects' color fundus images centered on the macula, the retinal blood vessel fractal dimension (D f), vascular area ratio (VAR), mean diameter (D m), tortuosity (τ) and other morphological characteristics parameters were extracted and compared among various disease groups.This study adhered to the Declaration of Helsinki.The study protocol was approved by the Ethics Committee of Zhongshan Ophthalmic Center, Sun Yat-sen University (No.2023KYPJ344).Written informed consent was obtained from each subject. Results:The accuracy of the multi-disease color fundus photography vessel segmentation model on the test set was 0.987, and the area under the receiver operating characteristic curve was 0.995.After adjustment for age and sex, there were statistically significant differences in adjusted D f, adjusted VAR, adjusted D m and τ among different groups ( F=27.87, 47.60, 26.48, 4.63; all at P<0.001).Adjusted D f in AMD group, DR group, diabetic macular edema (DME) group, retinitis pigmentosa (RP) group, branch retinal vein occlusion (BRVO) group and central retinal vein occlusion (CRVO) group was significantly decreased than in normal control group, and the differences were statistically significant (all at P<0.05).Adjusted VAR in all disease groups except optic neuritis group and central serous chorioretinopathy group was significantly decreased compared with normal control group, and the differences were statistically significant (all at P<0.05).The adjusted D m in DME, glaucoma, RP, BRVO and CRVO groups was significantly decreased than that in normal control group, and the differences were statistically significant (all at P<0.05).τ was not affected by age or sex and did not require adjustment.τ in DR group and DME group was significantly increased compared with normal control group, and the differences were statistically significant (both at P<0.05). Conclusions:An accurate retinal blood vessel segmentation method for various fundus diseases was successfully constructed.This method shows high accuracy in retinal blood vessel segmentation in color fundus photographs of various retinal diseases.There are significant differences in the morphological characteristics of retinal blood vessels among different retinal diseases.

Gastric cancer is one of the most common malignant gastrointestinal tumors.Docetaxel alone or combination with other drugs can attenuate the progress of disease,prolong the overall response rate and the median overall survival rate in advanced gastric cancer.However,the incidence of toxicities is high.Moreover,there is no uniform standard for dosage and course for docetaxel treatment.Currently,its efficacy is not definite.

OBJECTIVE: To explore the prognosis and surgical method for diffuse-type advanced gastric cancer (AGC).
 METHODS: The clinicopathological data of patient, who underwent curative gastrectomy in the Second Hospital Affiliated to Lanzhou University from 2005 to 2010, were analyzed retrospectively. The prognostic factors of diffuse-type AGC were analyzed by Cox regression models. The patients were divided into a total gastrectomy group (n=120) and a subtotal gastrectomy group (n=167) according to the surgical approach. Survival rates were established by the Kaplan-Meier method and compared by the Log-rank test between the total gastrectomy group and the subtotal gastrectomy group.
 RESULTS: A total of 287 patients with diffuse-type AGC were enrolled in this study, including 120 patients in the total gastrectomy group and 167 patients in the subtotal gastrectomy group. Univariate analysis showed that the prognosis of diffuse-type AGC was associated with body mass index, number of retrieved lymph nodes, Borrmann type, tumor size, T stage, N stage, tumor-node-metastasis (TNM) stage, extent of resection, surgical margin, postoperative complication, perineural and vascular invasion (all P<0.01). Multivariate analysis showed that normal body mass index, tumor size, T stage, N stage, total gastrectomy, surgical margin, postoperative complication were the independent predictors for diffuse-type AGC (all P<0.05). The 5-year overall survival rate and progression-free survival rate for diffuse-type AGC after curative gastrectomy were 17.8% and 13.6%, respectively. The median survival time and progression-free survival of them were 22 and 18 months, respectively. The overall survival rate and progression-free survival rate in the total gastrectomy group was significantly higher than that in the subtotal gastrectomy (P<0.01); the extended extent of lymph node dissection, the lower rate of positive surgical margin and postoperative complications were present in the total gastrectomy group (all P<0.05 or P<0.01).
 CONCLUSION The patients with diffuse-type AGC have a poor prognosis. The great tumor diameter, advanced T stage, advanced N stage, subtotal gastrectomy, high rate of positive surgical margin and postoperative complication are independent risky factors for the diffuse-type AGC. However, the total gastrectomy may be beneficial to patients.
Disease-Free Survival ; Gastrectomy ; Humans ; Lymph Node Excision ; Lymph Nodes ; pathology ; Multivariate Analysis ; Neoplasm Staging ; Postoperative Complications ; Prognosis ; Proportional Hazards Models ; Retrospective Studies ; Risk Factors ; Stomach Neoplasms ; diagnosis ; surgery ; Survival Rate