Objective To investigate the association between microvariants at locus DYS570 and Y-SNPs haplogroup.Methods 89 Y-SNPs and 34 Y-STRs in AIYSNP42,AIYSNP47 and YfilerTM Platinum kits were used to detect the genotype of 116 microvariants at locus DYS570 in Kunming,and the Set-B kit was used to detect the core repeat sequences of the DYS570 locus.The data were statistically analyzed by direct counting method.Then,a network map was drawn by Network 10.2,in order to visualize the genetic information of the sample.Results The results demonstrated that 111 DYS570/18.3-21.3 samples had a core repeat sequence of TTT[TITC]18-21,belonging to subgroup O2a2b1a1a1a4-F14494.A DYS570/20.3 sample had a core repeat sequence of[TTTC]15TTC[TTTC]5,belonging to O2a1b1a1a1a1e-F1365 subgroup.A DYS570/17.1 sample had a core repeat sequence of[TTTC]17 T,belonging to the O2a1b1a1a1a-F11 subgroup.Three DYS570(19.2)samples had[TTTC]3 TT[TTTC]16,belonging to the D1a1a-M15 haplogroup.Conclusion The results indicated that the microvariant with the same core repeat structure at locus DYS570 was associated with haplogroups,and the ancestry origin of samples can be inferenced from microvariant characteristics during the practice of forensic medicine.

Objective To analyze the effects of miR-181a-5p overexpression on metabolites in the small intestines of mice with subcutaneous oral cancer by detecting changes in metabolites and metabolic pathways.Methods Three groups were included in study:Control group,negative control and miR-181a-5p overexpression group.To establish a subcutaneous oral cancer model in mice,variously treated cell suspensions were subcutaneously injected into the upper right of the groin in female M-NSG severely immunodeficient mice.Changes in pathology and small intestinal tissues were assessed by HE staining.Changes in mouse body weight were also assessed.Tandem orbitrap mass spectrometry and ultra-high performance liquid chromatography-tandem time-of-flight mass spectrometry,were used to examine metabolites in the small intestines.By pre-analyzing the original data and quality rating sample data,XCMS was able to assess which metabolites were different among the groups.To identify unique metabolic pathways,KEGG enrichment analysis was used.Results A total of 170 distinct metabolites were found in the small intestinal tissues of Control and NC groups.Choline metabolism,alanine,aspartate,and glutamate metabolism,GABA synaptic metabolism,glycerophospholipid metabolism,cAMP signaling route,cancer center carbon metabolism,and niacin and niacin amine metabolic pathways were important signaling pathways for metabolite enrichment.In the NC group,16 distinct metabolites with VIP values larger than 2 were found in the small intestines compared with the OE group overexpressing miR-181a-5p.Glycerin phosphorylcholine,palmitic acid,3-hydroxybutyl carnitine,and β-hydroxybutyric acid were among the metabolites that significantly varied.The primary enhanced metabolic pathway was the choline pathway.Conclusions Mouse small intestines underwent slight changes from subcutaneous oral cancer with the greatest effect on metabolites critical for energy metabolism.The choline metabolic pathway was the pathway that selected absolutely metabolites in mouse small intestines with subcutaneous grafts of oral cancer.

The macrophages,as a crucial component of the body's immune system,can be polarized into M1 and M2 types by different cellular molecules in various environments,and contribute to the progression of various diseases.In inflammatory responses,the M1 macrophages are primarily regarded as the pro-inflammatory cells,facilitate the inflammation progression,tissue destruction,and bone resorption,while M2 macrophages,as inflammatory cells,participate in tissue healing and bone repairment.In the tumor microenvironment,the roles of M1 and M2 macrophages are reversed.The periodontitis,pulpitis,and oral squamous cell carcinoma(OSCC)are the most prevalent inflammation and tumor in the oral cavity.Therefore,this article summarizes the relevant researches from home and abroad on the polarization of macrophages in oral inflammatory responses such as periodontitis,peri-implantitis,and pulpitis,bone remodeling during orthodontic treatment,and OSCC,and elucidate the metabolic activities of macrophages in infiammation,tumor,and bone remodeling and the mechanism of regulating the onset and development of diseases by the macrophage polarization,and provides new perspectives for the clinical treatment.

Objective:To translate the Cumulated Ambulation Score (CAS) into Chinese and test its reliability and validity in elderly inpatients, to provide a basis for assessing elderly inpatients′ basic mobility during hospitalization.Methods:This was a cross-sectional study. After obtaining the authorization of the original author, the Chinese version of CAS was formed by WHO′s cross-cultural translation process. A total of 414 hospitalized elderly inpatients from Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, and Shanghai Yangpu District Kongjiang Hospital were selected between March and September 2021. Cronbach′s α coefficient was used to test internal consistency, linear weighted Kappa was employed to assess inter-rater reliability, and concurrent validity was examined using items related to mobility of Barthel Index scores as a reference standard.Results:Of the 414 patients, 221 were males and 193 were females, and the patients aged (76.67 ± 9.98) years old; 122 cases (29.5%) had a perfect score of 6 with normal basic mobility, 89 cases (21.5%) had a score of 0 with complete loss of mobility, and the remaining 203 patients had a score of 1-5 with varying degrees of reduced mobility. The Chinese version of CAS demonstrated good assessment performance for basic mobility in elderly inpatients with a Cronbach′s α coefficient of 0.952. Weighted Kappa values for individual items and total scores showed excellent agreement among raters (>0.85), while concurrent validity yielded a value of 0.935 ( P<0.01) when compared with Barthel Index scores.Total score of CAS was significantly correlated with item scores and total score of Barthel index ( r values were 0.423 to 0.944, all P<0.01). Conclusions:The Chinese version of CAS has good reliability and validity. The items are concise, clear and easy to understand. It is suitable as a preliminary screening tool for clinical departments to evaluate the basic mobility of elderly inpatients.

Objective To investigate the association of the DYS527a/b and DYF387S1a/b multi-allele pattern with Y-SNP haplogroups.Methods Samples from 295 unrelated males who carrying the DYS527a/b multi-allele pattern were amplified by the YFilerPlus? kit.The genotypes of their frequency distributions,including three multi-copy loci(DYS527a/b,DYF387S1a/b,DYS385a/b)and other single-copy loci were obtained.The DYS527a/b multi-allele pattern and their haplotypes were examined for the associations with Y-chromosome haplogroups using the AIYSNP42 kit,which contains 42 Y-SNP loci.Based on the above results,the association between the DYS527a/b multi-allele patter and its constituent Y-STR haplotypes and related haplogroups was discussed.Results Among the 295 samples,the DYS527a/b tri-allele pattern and tetra-allele pattern accounted for 97.29%and 2.71%respectively,while the DYF387S1a/b tri-allele pattern and tetra-allele encompassed 54.24%and 4.75%.Null allele was detected in DYS448 in 13.22%of the samples.Here,7 Y-SNPs were deticted such as O-M175 and C-M131 which encompassed 45.76%and 45.08%.The haplogroups of R1-M173,N-M231,D1-M174,J-M304 and F-M89 were less than 13 cases,with frequencies ranging from 4.41%～0.34%.There were Y-STR genotypes differences among haplogroups,as haplogroup O-M175 was represented by 4 genotypes of Y-STR profiles characterized by DYS385a/b(12/12,as well as 12/17,12/18,12/19),DYS392(13),DYS593(16)and DYS393(12),and haplogroup C-M130 was characterized by DYS527a/b(19/20/21),DYS385a/b(11),DYS593(17),DYS390(23),Y_GATA_H4(11),and DYS444(13)and so on.Conclusion The DYS527a/b multi-allele pattern is frequently observed in the Kunming population with haplogroup C-M130.In the samples from haplogroups O,C,R1 and N,the DYS527a/b and DYF387S1a/b haplotypes frequently exhibit the multi-allele pattern.Given the frequencies of different haplogroups and the association between Y-SNP haplogroups and Y-STR loci,it could be helpful to look for more details in the paternal lineage search.

Objective To study the effect of autophagy regulation on hypoxia/reoxygenation injury(H/RI)in mouse spermatogonia,and to explore the effect of autophagy on ischemia-reperfusion injury(IRI)in mouse testicular tissue.Methods The mouse spermatogonial cell line GC1 spg was used as the research object to construct the H/RI model.Rapamycin(RAPA)and 3-methyladenine(3-MA)were used as autophagy ago-nists and inhibitors.The control group,the model group,the autophagy agonist intervention group(H/RI+autophagy agonist intervention),and the autophagy inhibitor intervention group(H/RI+autophagy inhibitor intervention)were set up.The cells proliferation ability of each group was detected by methyl thiazol tetrazoli-um(MTT)method.The release level of reactive oxygen species(ROS)and apoptosis level of each group were detected by flow cytometry.The expression levels of autophagy-related gene Beclin1 and apoptosis-relat-ed genes Bcl-2 and Bax mRNA in each group were detected by real-time fluorescence quantitative PCR(qPCR).The expression levels of autophagy-related proteins LC3-Ⅰ,LC3-Ⅱ,Beclin1,p62 and apoptosis-relat-ed proteins Bcl-2,Bax,caspase-3 in each group were detected by Western blot.Results Compared with the control group,the proliferation abiliy,the expression levels of Beclin1 and Bcl-2 mRNA in the model group were significantly decreased(P＜0.01),the relative expression levels of p62 and Bcl-2 proteins were significantly decreased(P＜0.01).The ROS level,apoptosis rate and the mRNA expression level of Bax were significantly increased(P＜0.01),and the protein expresion levels of Beclin1,Bax,caspase-3 and the protein ratio of LC3-Ⅱ/LC3-Ⅰ were significantly increased(P＜0.01).Compared with the model group,the cell proliferation a-bility,the expression levels of Beclin1 and Bcl-2 mRNA in the autophagy agonist intervention group were the protein ratio of significantly increased(P＜0.01),the protein expression levels of Beclin1 and Bcl-2 and the protein ration of LC3-Ⅱ/LC3-Ⅰ were significantly increased(P＜0.01).The ROS level,apoptosis rate and the expression level of Bax mRNA were significantly decreased(P＜0.01),and the protein expression levels of p62,Bax,caspase-3 and the protein ratio of LC3-Ⅱ/LC3-Ⅰ were significantly decreased(P＜0.01).Com-pared with the model group,the cell proliferation ability,the mRNA expression levels of Beclin1 and Bcl-2 in the autophagy inhibitor intervention group were significantly decreased(P＜0.01),the protein expression lev-els of Beclin1 and Bcl-2 protein were significantly decreased(P＜0.01).The ROS level,apoptosis rate and the mRNA expression level of Bax were significantly increased(P＜0.01),and the protein expression levels of p62,Bax,caspase-3 and the protein ratio of LC3-Ⅱ/LC3-Ⅰwere significantly iecreased(P＜0.01).Conclusion Enhanced au-tophagy can inhibit apoptosis of spermatogonia and repair H/RI in mice,which provides a theoretical basis for the treatment of testicular tissue IRI.

Objective:To investigate the application value of double contrast-enhanced ultrasonography (DCEUS) combined with serum pepsinogen (PG) in the diagnosis of early gastric cancer(EGC).Methods:Eighty-two patients suspected of EGC from July 2020 to July 2022 in the People′s Hospital of Guangxi Zhuang Autonomous Region, and preoperative DCEUS examination and PG test were performed, and the patients were divided into benign lesion group(13 cases), early gastric cancer group(57 cases) and progressive gastric cancer group(12 cases) using postoperative pathology as the gold standard. Parameters for comparison included time to peak (TTP), peak intensity (PI), enhanced intensity (EI), serum pepsinogen Ⅰ (PGⅠ), serum pepsinogenⅡ (PGⅡ) and their ratio (PGⅠ/PGⅡ). The sensitivity, specificity, and accuracy of DCEUS and PG alone and in combination for the diagnosis of EGC were analyzed by plotting the ROC curve, and its diagnostic value was compared.Results:In the comparison of DCEUS parameters, PI and EI values were higher in the malignant group than in the benign lesion group and TTP was the opposite, with statistically significant differences (all P<0.05). In the comparison of PG detection, PGⅠ and PGⅠ/PGⅡ were lower in the malignant group than in the benign lesions, and lower in the progressive gastric cancer than in the EGC, while PGⅡ was the opposite, with statistically significant differences (all P<0.05). As shown by the ROC curve results, the sensitivity of DCEUS and PG alone and in combination for the diagnosis of EGC was 80.7%, 73.7% and 87.7%, respectively; the specificity was 76.0%, 72.0% and 80.0%, respectively; and the accuracy was 79.3%, 73.2% and 85.4%, respectively. The area under curve (AUC) of the two modalities alone and combined were 0.784 (95% CI=0.669-0.898), 0.728 (95% CI=0.606-0.850) and 0.839 (95% CI=0.734-0.943), respectively, and the combined diagnosis had a higher diagnostic value than the single diagnostic modality. Conclusions:The combined diagnostic modality of DCEUS and PG can further improve the diagnostic efficacy of EGC and reduce its underdiagnosis rate, which has good application value.

Objective:To investigate the value of quantitative parameters derived from dual-layer spectral detector CT (SDCT) in characterizing regional lymph node (LN) status of colorectal cancer.Methods:From August 2019 to May 2020, 101 patients with colorectal cancer confirmed by pathology in the First Affiliated Hospital of Sun Yat-sen University were retrospectively collected. The largest regional LNs were matched with surgical pathology one by one and divided into metastatic LNs group (42 cases) and nonmetastatic LNs group (59 cases) according to pathological results. Based on preoperative venous phase contrast enhanced SDCT images he short-axis diameter (S) and the of the largest regional LN was measured, then its border and enhancement homogeneity were evaluated. Outlining the ROI along the edge of the LN on its widest cross section, the iodine density (ID) and effective atomic number (Z eff) were measured, then the normalized ID (nID) and normalized Z eff (nZ eff) were calculated. The χ 2 test, Fisher′s exact test, independent samples t-test or Mann-Whitney U test were used to compare the differences of each parameter between pathologically metastatic and nonmetastatic LNs and a logistic regression model was constructed. The ROC curves and area under the curve (AUC) were performed to evaluate the diagnostic performance of each parameter. DeLong test was used to compare the differences of each AUC. Results:The S, border, enhancement homogeneity, ID, Z eff, nID and nZ eff of LNs all showed significant differences between metastatic and nonmetastatic LNs (all P<0.001). The regression model constructed by S and Z eff of LNs had the highest value in differentiating metastatic and nonmetastatic LNs, with an AUC of 0.935, sensitivity and specificity of 85.7% and 89.8%, respectively. Its diagnostic value was higher than that of S, border, enhancement homogeneity (AUC 0.674-0.832, all P<0.05) and SDCT quantitative parameters (AUC 0.863-0.906, all P<0.05) of LNs. Conclusion:SDCT quantitative parameters facilitate the accurate diagnosis of regional metastatic LNs in patients with colorectal cancer, among which the multi-parameter regression model has the highest diagnostic value.

OBJECTIVE: To explore the genetic basis for a pedigree affected with Alport syndrome. METHODS: Next generation sequencing and Sanger sequencing was applied to detect potential variants of the COL4A3, COL4A4 and COL4A5 genes among members from the pedigree and 100 unrelated healthy controls. RESULTS: The proband and his twin brother were found to carry two novel variants, namely c.4953G>A and c.4623C>A, of the COL4A4 gene, which were respectively inherited from her father and mother. The same variants were not detected among the 100 healthy controls and medical literature. Based on the guidelines of the American College of Medical Genetics and Genomics, both the c.4953G>A and c.4623C>A variants were predicted to be pathogenic (PVS1+PM2_supporting+PP1). CONCLUSION The c.4953G>A and c.4623C>A variants of the COLA4A gene probably underlay the Alport syndrome in this pedigree. Above finding has enriched the spectrum of COLA4A gene variants.
Autoantigens/genetics* ; Child ; Collagen Type IV/genetics* ; Female ; Humans ; Male ; Mutation ; Nephritis, Hereditary/genetics* ; Pedigree

Nonalcoholic fatty liver disease (NAFLD) is the most common type of liver disease in developed countries, and in recent years, the prevalence rate of NAFLD tends to increase in China, which brings heavy burden to the social health system. The development and progression of NAFLD are affected by the interaction between multiple influencing factors including genetic and epigenetic factors, transcription factors, hormones, nutrition, and environmental factors. This article reviews the research advances in the role of nuclear receptor in the pathogenesis of NAFLD, in order to deepen the understanding of this disease.