[Risk prediction and function evaluation by T-cell epitope model and expression model of HLA-DPB1 mismatching in unrelated-donor hematopoietic stem cell transplantations].

Objective: To evaluate the risk prediction and assessment function of HLA-DPB1 T-cell epitope (TCE) model and expression model in human leukocyte antigen (HLA)-matched unrelated hematopoietic stem cell transplantation (MUD-HSCT) with HLA-DPB1 mismatching. Methods: A total of 364 (182 pairs) potential MUD-HSCT donors and recipients confirmed by HLA high-resolution typing in Shaanxi Blood Center from 2016 to 2019 were analyzed retrospectively. Of the 182 recipients, there were 121 males and 61 females with an average age of (26.3±14.2) years. Of the 182 donors, there were 148 males and 34 females with an average age of (33.7±7.5) years. Polymerase chain reaction-sequence-based typing (PCR-SBT), next-generation sequencing (NGS) and polymerase chain reaction-sequence specific oligonucleotide probe (PCR-SSO) based on LABScan®3D platform were used for high-resolution typing of HLA-A, B, C, DRB1, DQB1, DPB1 gene, and PCR-SBT was used for single nucleotide polymorphism (SNP) typing. TCE model and expression model were used to predict and evaluate the HLA-DPB1 mismatch pattern and acute graft-versus-host-disease (aGVHD) risk. Results: A total of 26 HLA-DPB1 alleles and their 3'-UTR rs9277534 SNP genotypes were detected in this study population, and two new alleles HLA-DPB1*1052∶01 and HLA-DPB1*1119∶01 were found and officially named. The overall mismatch rate of HLA-DPB1 in MUD-HSCT donors and recipients was 90.66% (165/182). In TCE model, the HLA-DPB1 mismatch rates of permissible mismatch (PM) and non-permissible mismatch (non-PM) were 47.80% (87/182) and 42.86% (78/182), respectively. The non-PM in GvH direction was 13.73% (25/182), and which in HvG direction was 29.12% (53/182). A total of 73 pairs of donors and recipients in TCE model met the evaluation criteria of expression model. Among of TCE PM group, recipient DP5 mismatches accounted for 34.25% (25/73) were predicted as aGVHD high risk according to expression model. For the TCE non-PM group, both the recipient DP2 mismatches of 6.85% (5/73) and recipient DP5 mismatches of 10.86% (8/73) were predicted to be at high risk for aGVHD. Risk prediction by TCE model and expression model was 27.27% concordant and 16.97% unconcordant. Conclusions: TCE model and expression model are effective tools to predict aGVHD risk of MUD-HSCT. Comprehensive application of the two models is helpful to the hierarchical assessment of HSCT risk.

[A case of CHARGE syndrome confirmed by ophthalmology].

A 31-month-old female patient presented to our department of Ophthalmology in Xijing Hospital with insufficiency closed eyelid in left eye and photophobia for one month. Unsteady gait with asymmetrical face, bilateral auricle deformity and deafness could be observed on the pediatric patient. Esotropia in left eye combined, left facial nerve palsy, with binocular anisometropia was checked out after general eye examination. Echocardiography revealed that she was treated with ligation of the ductus arteriosus. A de novo pathogenic variant, c.3392T>C, was identified in CHD7 gene, which supported the diagnosis of CHARGE syndrome. (Chin J Ophthalmol, 2021, 57: 618-620).

[The association between carotid atherosclerosis and ischemic stroke in patients with nonvalvular atrial fibrillation].

Objective: To investigate the relationship between indicators of carotid atherosclerosis and onset of ischemic stroke in patients with non-valvular atrial fibrillation (NVAF). Methods: This is a case-control study, a total of 397 NVAF patients with newly diagnosed ischemic stroke (case group) and 3 038 NVAF patients without ischemic stroke (control group) from January 2015 to December 2017 were included in the study. Differences in general clinical features and carotid atherosclerosis indexes between the two groups were compared. Univariate and multivariate logistic regressions were used to analyze the correlation between carotid atherosclerosis indexes and ischemic stroke. Results: Proportions of patients with carotid intima thickening, carotid plaque, stable plaque, unstable plaque, and moderate to severe stenosis were higher in the ischemic stroke group than those in the control group (82.1% vs. 64.4%, 69.3% vs. 50.3%, 43.6% vs. 30.6%, 25.7% vs. 19.7%, and 7.3% vs. 4.0%, respectively, all P <0.05). After adjustment of age, gender, heart failure, hypertension, low density lipoprotein -cholesterol and drug use, multivariate analyses showed that subjects with carotid intima thickening, carotid plaque, stable plaque, unstable plaque, moderate to severe stenosis had 1.766, 2.111, 1.892, 2.256 and 1.824 times the risk for the development of ischemic stroke compared with the subjects without any carotid atherosclerosis indicators. Conclusion: Carotid atherosclerosis, especially with unstable carotid plaque, is associated with ischemic stroke in patients with NVAF.

MicroRNA-409 inhibits the proliferative ability of cervical carcinoma cells by regulating AKT.

OBJECTIVE: To observe the microRNA-409-3p expression in cervical carcinoma and its effect on the growth and proliferative ability of cervical carcinoma cells. PATIENTS AND METHODS: The microRNA-409-3p level in 62 cases of cervical carcinoma and 38 cases of normal cervical tissue was detected by qRT-PCR. The association between the microRNA-409-3p level and clinicopathological features of cervical carcinoma was investigated. Knockdown and overexpressed microRNA-409-3p in cervical carcinoma cells, HeLa and SiHa, were used to detect the cell cycle and the activity of cervical carcinoma cells. Subsequently, potentially target genes of microRNA-409-3p were predicted by bioinformatics website. Western Blot and luciferase assay were used to confirm their correlation. RESULTS: We observed a significant lower microRNA-409-3p level in cervical carcinoma tissues than that in normal cervical tissues. Significant correlation was found between the microRNA-409-3p level in patients with cervical carcinoma and the overall survival rate, tumor size and TNM stage (p<0.05), but correlations with age, pathological type and lymph node metastasis were not found (p>0.05). After silencing the expression of microRNA-409-3p in cervical carcinoma cells, the proliferative ability of cervical carcinoma cells was greatly promoted. In addition, microRNA-409-3p was targeting on protein kinase B (AKT) and had a negative correlation with AKT expression. CONCLUSIONS: The microRNA-409-3p level was lower in cervical carcinoma tissues, and was significantly affected the overall survival, tumor size and TNM staging in clinical patients. Low expression of microRNA-409-3p could promote the proliferative ability of cervical carcinoma cells through the target gene AKT.

The expression and significance of WT1 in xenotransplanted ovarian carcinoma treated by paclitaxel.

In this study, the authors investigated the expression and significance of WTl in xenotransplanted ovarian carcinoma cell SKOV3 of nude mice treated with paclitaxel. Xenotransplanted ovarian carcinoma was established in nude mice using the SKOV3 cell line. The mice were randomized into the treatment group with paclitaxel and control group with normal sodium. The sizes of the xenotransplanted tumors were measured and the tumor specimens were confirmed by routine hemotoxylin-eosin (H&E) staining. The apoptosis index was then assayed using flow cytometry. WTl and bcl-2 expression were detected with immunohistochemistry, and WT1 mRNA expression was determined by reverse transcriptase polymerase chain reaction (RT-PCR). The authors found that the growth of the xenotransplanted tumor was inhibited by paclitaxel therapy. Compared to the control group, the apoptosis rate was significantly increased in the treatment group (p < 0.05). At the same time, the expression of WTl, bcl-2 and WTI, mRNA were significantly decreased in the paclitaxel therapy group (p < 0.05). The authors conclude that the WTl gene may play an important role during apoptosis of ovarian carcinoma and the mechanism may be closely related to bcl-2.