Objective To explore the correlation between tongue features of type 2 diabetes patients with coronary heart disease and glycosylated hemoglobin,liver function,blood lipids,C-reactive protein,so as to provide reference for related research.Methods Using the TFDA-1 tongue imaging device to collect patients'tongue images,experts will interpret the tongue images and extract objective parameters of the tongue images through the intelligent auxiliary diagnosis system of traditional Chinese medicine tongue diagnosis;Record patient laboratory indicators and use SPSS statistical software to analyze the correlation between tongue image distribution characteristics,tongue image parameter characteristics,and laboratory indicators using Spearman method.Results 702 patients with type 2 diabetes and coronary heart disease were included.In terms of glycated hemoglobin indicators,bruising parameters are positively correlated with HbA1c,while tongue tip RGB values are negatively correlated with HbA1c.In terms of liver function indicators,tongue edge redness,tongue tip and tongue texture R value are positively correlated with ALT and AST;Red tongue tip,tooth marks on the tongue,etc.are positively correlated with ALT;Fat tongue is positively correlated with AST.In terms of blood lipid indicators,parameters such as tooth mark tongue and tooth mark are positively correlated with TG;The parameters of white coating and tongue coating area are positively correlated with LDL-C;Thin coating is positively correlated with HDL-C,while thick coating is negatively correlated with HDL-C;Red tongue is negatively correlated with TCHO.In terms of C-reactive protein,red tongue,tip red,and edge red are positively correlated with CRP;The GB value of tongue root and tongue substance is negatively correlated with CRP.Conclusion Type 2 diabetes patients with coronary heart disease have tongue picture distribution,tongue shape parameters,tongue color parameters,coating color parameters and HbA1c,ALT,AST,TCHO,TG,HDL-C,LDL-C,CRP indicators in varying degrees of correlation.The combination of patients'tongue picture and laboratory indicators is helpful to clarify the diagnosis and prognosis of type 2 diabetes with coronary heart disease.

Objective To explore the correlation between tongue features of type 2 diabetes patients with coronary heart disease and glycosylated hemoglobin,liver function,blood lipids,C-reactive protein,so as to provide reference for related research.Methods Using the TFDA-1 tongue imaging device to collect patients'tongue images,experts will interpret the tongue images and extract objective parameters of the tongue images through the intelligent auxiliary diagnosis system of traditional Chinese medicine tongue diagnosis;Record patient laboratory indicators and use SPSS statistical software to analyze the correlation between tongue image distribution characteristics,tongue image parameter characteristics,and laboratory indicators using Spearman method.Results 702 patients with type 2 diabetes and coronary heart disease were included.In terms of glycated hemoglobin indicators,bruising parameters are positively correlated with HbA1c,while tongue tip RGB values are negatively correlated with HbA1c.In terms of liver function indicators,tongue edge redness,tongue tip and tongue texture R value are positively correlated with ALT and AST;Red tongue tip,tooth marks on the tongue,etc.are positively correlated with ALT;Fat tongue is positively correlated with AST.In terms of blood lipid indicators,parameters such as tooth mark tongue and tooth mark are positively correlated with TG;The parameters of white coating and tongue coating area are positively correlated with LDL-C;Thin coating is positively correlated with HDL-C,while thick coating is negatively correlated with HDL-C;Red tongue is negatively correlated with TCHO.In terms of C-reactive protein,red tongue,tip red,and edge red are positively correlated with CRP;The GB value of tongue root and tongue substance is negatively correlated with CRP.Conclusion Type 2 diabetes patients with coronary heart disease have tongue picture distribution,tongue shape parameters,tongue color parameters,coating color parameters and HbA1c,ALT,AST,TCHO,TG,HDL-C,LDL-C,CRP indicators in varying degrees of correlation.The combination of patients'tongue picture and laboratory indicators is helpful to clarify the diagnosis and prognosis of type 2 diabetes with coronary heart disease.

Objective To analyze the composition and function of residual cells in pre-transplantation human thymic slices by single-cell transcriptomics sequencing(scRNA-seq),and established a quality assessment method for thymic slices based on the expression levels of molecular markers in the culture supernatant.Methods The discarded thymus from 18 patients with congenital heart disease undergoing surgical treatment in Department of Cardiothoracic Surgery of Children's Hospital Affiliated to Chongqing Medical University from May 2023 to January 2024 were collected and prepared into thymic slices.After the slices were cultured in vitro for 14 d,scRNA-seq was employed to identify the residual cell types,and gene ontology(GO)and Kyoto encyclopedia of genes and genomes(KEGG)enrichment analysis was performed to analyze the biological function of the residual cells.Then based on the literature concerning thymic slice culture,the molecular markers indicating thymocyte function were screened out.ELISA was applied to detect the changes in protein levels of molecular markers in the supernatant.Receiver operating characteristic(ROC)curve was plotted and assess the value of the molecular markers in the supernatant in evaluating the quality of thymic slices with area under the curve(AUC).Then,the qualified and unqualified thymic slices determined by our obtained molecular markers were transplanted subcutaneously into male nude mice(6～8 weeks old,weighing 14～17 g),respectively,and the male nude mice without transplantation of the thymic slices served as control group.Flow cytometry and histologic analysis were utilized to observe the immune reconstitution after transplantation.Results ① scRNA-seq identified 11 cell types in thymic slices,dominated with epithelial cells,fibroblasts,and T cells.GO and KEGG enrichment analysis showed that epithelial cells were involved in enrichment entries related to chemotaxis,epithelial cell development,cell matrix adhesion and tight junction;fibroblasts were involved in enrichment entries related to extracellular matrix,epithelial cell proliferation,negative regulation of cell migration,and regulation of actin cytoskeleton;T cells were mainly related to T cell differentiation,regulation of T cell activation,T cell apoptosis,and T cell receptor signaling.② Molecular markers,CCL19,CCL21,CXCL12,CXCL16,IL16 and SELL were identified to indicate thymocyte function.Compared with the levels of the first day,the protein secretions of CCL19,CCL21,CXCL12 and CXCL16 were significantly increased during in vitro culture(P<0.05),while the protein secretions of IL16 and L-selectin(protein form of SELL)were significantly decreased(P<0.05).The combined predictor Pre1 from subset of cytokines(IL16 and L-selectin)had the highest value in the quality assessment of thymic slices after 1 d of culture(AUC=0.883),and the combined predictor Pre2 from subset of cytokines(CCL19,CCL21,CXCL12 and CXCL16)had the highest value in the quality assessment after 14 d of culture(AUC=0.948).③ Transplantation in nude mice indicated that the qualified thymic slices could develop to thymus structure in vivo,and effectively increase the proportion of T cells in peripheral blood(P<0.01),while the unqualified thymic slices could not obtain the reconstitution of T cell development.Conclusion The main residual component cells in thymic slices are epithelial cells,fibroblasts and T cells.IL16 and L-selectin can be used as potential indicators to determine the quality of donor thymic samples.CCL19,CCL21,CXCL12 and CXCL16 can effectively evaluate the quality of thymic slices before transplantation.

To understand Helicobacter pylori's drug resistance,genetic diversity,and relationship with clinical diseases in the Guiyang and Qiannan minority areas of Guizhou Province,we collected samples through endoscopy,and isolated and cul-tured H.pylori.The drug resistance and genotype characteristics were determined.The differences in different regions and dis-ease types were compared,and the structural characteristics of H.pylori and mixed infections with different strains of H.py-lori in Qiannan Prefecture were analyzed.A difference in the composition ratio of EPYIA typing in the cagA variable region was observed between the two areas(P=0.012),and the composition ratio of the vacA genotype differed(P=0.000).A total of 94.6％(53/56)new sequences of H.pylori strains from two regions were obtained by MLST.The rate of infection by H.pylori mixed with different strains was 44.4％in Qiannan Pre-fecture,and no significant difference was observed in the com-position of H.pylori mixed infections among patients with dif-ferent clinical diseases(P=0.349).Differences in EPI YA typ-ing and the vacA genotype composition ratio in the cagA varia-ble region of H.pylori were observed between the Qiannan Prefecture and Guiyang City.

Cellulose synthase (CesA), one of the key enzymes in the biosynthesis of cellulose in plants, plays an important role in plant growth and plant resistance. In this study, a total of 21 AsCesA genes from Aquilaria sinensis were systematically identified and the physico-chemical characteristics were analyzed based on genome database and bioinformatical methods. The phylogenetic tree was constructed and the gene location on chromosome, cis-acting elements in the 2 000 basepairs upstream regulatory regions and conservative motifs were analyzed. The AsCesA proteins were mainly located on the plasma membrane. The number of amino acids of the proteins ranged from 390 to 1 261. The isoelectric point distributed from 5.67 to 8.86. All of the 21 AsCesA proteins possessed the transmembrane domains, the number of which was from 6 to 8. The genes were classified into 3 groups according to the phylogenetic relationship. Obvious differences were observed in motif composition in genes from different groups. However, motif2, motif6, motif7 and motif10 were observed in all of AsCesA proteins. Analysis of cis-acting elements indicated that AsCesA genes family has cis-acting elements related to plant hormones, abiotic stresses, and biological processes. Seven AsCesA genes with differential expression were selected according to the calli transcriptome data induced by NaCl at different times and their expression levels under different abiotic stresses were analyzed by quantitative real-time PCR. The results indicated that salt, low temperature, drought, and heavy metal stresses could affect the expression level of AsCesA genes, and the abundance of AsCesA1, AsCesA3 and AsCesA20 showed a significant change, implying their potential important roles to the abiotic stresses. The accumulation pattern of cellulose content under different abiotic stresses was similar to the expression trend of AsCesA genes. Our results provide valuable insights into the role of cellulose synthase in A.sinensis in plant defense.

This study was designed to explore the immune reconstitution efficacy of human thymic slices transplanted into renal capsule,subcutaneous or muscle of nude mice,and further explore the optimal location of heterotopic transplantation.The thymus tissue discarded from congenital heart disease patients was made into 0.5-1 mm thick tissue sections and cultured in vitro to remove immune cells.H&E staining and immunohistochemical staining were used to assess the residual tissue structure and cell types in thymic slices,while quantitative PCR methods were used to assess the function of residual cells in thymic slices.Then thymic slices were transplanted into the renal capsule,subcutaneous or muscle of nude mice,and the immune reconstitution efficacy was compared by flow cytometry and histology.Data showed that after 14 days of culture in vitro,the clearance rate of T lymphocytes in the thymic slices was more than 90%,and the epithelial cell network structure of the tissue was intact,while a large number of macrophages,dendritic cells and endothelial cells remained.Quantitative PCR results showed that the gene expression levels of epithelial cell markers and secreted cytokines in cultured thymic slices could be effectively maintained.Flow cytometry showed that at 16 weeks after transplantation,the proportion of T cells in peripheral blood of mice in different transplantation groups were significantly increased,whereas the proportion of T cells in muscle group was the highest.In situ histological examination showed that the regeneration of thymus tissue was detected at all three transplant sites.In addition,the graft detection rate was 40%in the renal capsule group,60%in the subcutaneous group and 100%in the musclegroup.In conclusion,the human thymic slices cultured in vitro for 14 days retain a complete thymic matrix microenvironment.Transplantation of human thymic slices can effectively reconstruct the ratio of T cells in nude mice,and the muscle is the most effective transplantation site.

Objective To investigate the-75 G/A single-nucleotide polymorphism in the promoter region of apolipoprotein A1 gene(apoA1)and its association with gestational diabetes mellitus(GDM)in pregnant women and to provide references for the exploration in the molecular genetic basis of GDM.Methods A total of 626 GDM patients and 1022 normal pregnant women,ie,the controls,were included in the study.The genotyping of apoA1-75 G/A polymorphism was performed by polymerase chain reaction and restriction fragment length polymorphism(PCR-RFLP)analysis.Total cholesterol(TC),triglycerides(TG),high-density lipoprotein cholesterol(HDL-C),low-density lipoprotein cholesterol(LDL-C),and glucose(Glu)were measured by enzymatic methods.Plasma insulin(INS)was measured by chemiluminescence immunoassay.The protein levels of apoA1 and apoB were measured by the turbidimetric immunoassay.Results Allele frequencies of G and A were 0.718 and 0.282 in the GDM group and 0.713 and 0.287 in the control group,respectively.Distribution of the genotype frequencies was found to be in Hardy-Weinberg equilibrium in both the GDM and control groups.There was no significant difference in the frequencies of alleles G and A and the genotypes of apoA1-75 G/A polymorphism between the GDM and the control group(P>0.05).In the GDM group,the carriers with the genotype AA were associated with significantly higher levels of TC,HDL-C,and apoA1 than those with genotypes GG and GA did(all P<0.05).After the GDM patients were divided into obese and non-obese subgroups,the genotype-related apoA1 variation was observed only in obese patients,while the genotype-related TC and HDL-C variations were evident in non-obese patients(P<0.05).In the control group,carriers of genotypes AA and GA had higher systolic blood pressure(SBP)and HDL-C than the carriers of genotype GG did(all P<0.05).Carriers of genotypes AA had significantly lower Glu levels than carriers of genotypes GG and GA did(P<0.05).The control subjects were further divided into subgroups according to their body mass index(BMI).Analysis of the subgroups showed that AA carriers were associated with higher SBP levels in the obese control women only,while lower Glu levels were evident in both obese and non-obese control women.Conclusion These results suggest that-75 G/A polymorphism in the apoA1 gene is not associated with GDM.However,the genetic variation is closed associated with the plasma apoA1,HDL-C,and TC levels in GDM patients and plasma HDL-C,Glu,and SBP levels in the control subjects.The apoA1 variant-associated lipids and SBP variation is BMI dependent in both groups.

OBJECTIVE: To explore the pathogenic variants and clinical classification of two fetuses with Short-rib thoracic dysplasia with or without polydactyly (SRTD). METHODS: With informed consent obtained, the phenotypic characteristics of the fetuses were comprehensively examined, and genomic DNA was extracted from fetal skin tissue and peripheral blood samples of the parents with conventional phenol-chloroform method. Whole exome sequencing (WES) was carried out on both fetuses, and the candidate variants were validated by Sanger sequencing. The pathogenicity of the candidate variants was analyzed using bioinformatic software VarCards, and the impact of the variants on the protein structure was predicted with Swiss-Pdb-viewer. RESULTS: Both fetuses were found to harbor compound heterozygous variants of the DYNC2H1 gene, including c.515C>A (p.Pro172Gln) and c.5983G>A (p.Ala1995Thr) in fetus 1, and c.5920G>T (pGly1974) and c.9908T>C (p.He3303Thr) in fetus 2. The parents of both fetuses were heterozygous carriers. CONCLUSION The compound heterozygous variants of the DYNC2H1 gene probably underlay the SRTD3 in the two fetuses.
Humans ; Fetus ; Chloroform ; Computational Biology ; Ethnicity ; Ribs

OBJECTIVE: To explore the genetic basis for three Chinese patients with McCune-Albright syndrome (MAS). METHODS: Three children who had respectively presented at Shandong Provincial Hospital in April 2019 and Peking Union Medical College Hospital in August 2020 and May 2021 were selected as the research subjects. Peripheral blood samples of the probands and their family members were taken for the extraction of genomic DNA. Potential variants were screened by whole exome sequencing (WES), and candidate variants were validated by Sanger sequencing of the patients and their family members. RESULTS: The proband from family 1 was found to harbor a heterozygous c.601C>T (p.R201C) missense variant in exon 8 of the GNAS gene, whilst the probands from families 2 and 3 were both found to harbor a heterozygous c.602G>A (p.R201H) missense variant in exon 8 of the GNAS gene. Both variants were known to be pathogenic, and all probands were found to be mosaics for the corresponding variants but with various degrees. CONSLUSION WES can effectively diagnose MAS and other somatic genetic disorders. In this study, the combined WES and Sanger sequencing have verified the degree of mosaicisms of pathogenic variants in the three MAS patients, albeit no apparent correlation was found between the degree of mosaicisms and the phenotype of patients. Above finding has provided a basis for genetic counseling and prenatal diagnosis for the affected families.
Humans ; Mutation ; Fibrous Dysplasia, Polyostotic/genetics* ; East Asian People ; Exons ; Phenotype ; Pedigree

This study aims to evaluate the methodological and reporting quality of diagnosis and treatment guidelines for hyperuricemia as well as the expert consensuses and promote the understanding and application of the diagnosis and treatment guidelines for hyperuricemia. With "hyperuricemia" "guidelines" "consensus" "recommendations" as the key words in titles, the authors searched for the published clinical guidelines on hyperuricemia in Chinese against CNKI, Wanfang, VIP, Medlive and the official website of the industry association. The retrieval time limit was until May 31, 2021. The appraisal of guidelines for research and evaluation Ⅱ(AGREEⅡ) and the reporting items for practice guidelines in health care(RIGHT) were employed to evaluate the methodological quality and reporting quality of 14 guidelines/consensuses included. The average scores of the guidelines/consensuses were 80.85%(48.61%-98.61%) for the domain of scope and purpose, 34.52%(0-69.44%) for the domain of stakeholder involvement, 35.53%(6.25%-92.19%) for the domain of rigor of development, 55.85%(23.61%-86.11%) for the domain of clarity of presentation, 26.19%(0-76.04%) for the domain of applicability, and 21.42%(0-50.00%) for the domain of editorial independence. Nine guidelines/consensuses were of medium overall quality with grade B recommendation, and five guidelines/consensuses were of poor quality with grade C recommendation. The RIGHT classified the fourteen guidelines/consensuses into one of high reporting quality, three of medium reporting quality, and ten of low reporting quality. The results of this study indicate that the standardization and rigor of the methodological quality and the reporting quality of the clinical guidelines/consensuses for hyperuricemia in China remain to be strengthened.
China ; Consensus ; Humans ; Hyperuricemia/drug therapy* ; Publications ; Reference Standards