Table_1_Metagenomic next-generation sequencing shotgun for the diagnosis of infection in connective tissue diseases: A retrospective study.docx

ObjectivePatients with connective tissue diseases (CTDs) are at high risk of infection due to various reasons. The purpose of the study was to investigate the infection diagnosis value of metagenomic next-generation sequencing (mNGS) shotgun in CTDs to guide the use of anti-infective therapy more quickly and accurately.MethodsIn this retrospective study, a total of 103 patients with CTDs admitted with suspected infection between December 2018 and September 2021 were assessed using mNGS as well as conventional microbiological tests (CMT).ResultsAmong these 103 patients, 65 were confirmed to have an infection (Group I) and 38 had no infection (Group II). mNGS reached a sensitivity of 92.31% in diagnosing pathogens in Group I. Moreover, mNGS showed good performance in identifying mixed infection. In all infection types, lung infection was the most common. mNGS also played an important role in detecting Pneumocystis jirovecii, which was associated with low CD4+ T-cell counts inextricably.ConclusionmNGS is a useful tool with outstanding diagnostic potential in identifying pathogens in patients with CTDs and conduce to provide guidance in clinical practice.</p

COL9A1 Gene Polymorphism Is Associated with Kashin-Beck Disease in a Northwest Chinese Han Population

<div><p>Objective</p><p>We sought to determine whether genomic polymorphism in collagen IX genes (COL9A) was associated with Kashin-Beck disease (KBD).</p><p>Methods</p><p>Twenty seven single nucleotide polymorphisms (SNPs) in COL9AI, COL9A2 and COL9A3 were genotyped in 274 KBD cases and 248 healthy controls using the Sequenom MassARRAY system. Associations between the COL9A polymorphism and KBD risk were detected using an unconditional logistic regression model. Linkage disequilibrium (LD) and haplotypes analysis were performed with the Haploview software.</p><p>Results</p><p>After Bonferroni correction, the frequency distribution of genotypes in rs6910140 in COL9A1 was significantly different between the KBD and the control groups (<i>X</i>² = 16.74, <i>df</i> = 2, <i>P</i> = 0.0002). Regression analysis showed that the allele “C” in SNP rs6910140 had a significant protective effect on KBD [odds ratio (OR) = 0.49, 95% confidence interval (CI) = 0.34–0.70, P = 0.0001]. The frequencies of alleles and genotypes in rs6910140 were significantly different among subjects of different KBD stages (allele: <i>X</i>² = 7.82, <i>df</i> = 2, <i>P</i> = 0.02, genotype: <i>X</i>² = 14.81, <i>df</i> = 4, <i>P</i> = 0.005). However, haplotype analysis did not detect any significant association between KBD and COL9A1, COL9A2 and COL9A3.</p><p>Conclusions</p><p>We observed a significant association between rs6910140 of COL9A1 and KBD, suggesting a role of COL9A1 in the development of KBD.</p></div

The characteristics of study subjects by groups.

<p>The characteristics of study subjects by groups.</p

Additional file 7: of A pooled analysis of mesenchymal stem cell-based therapy for liver disease

Visualized results of publication bias of ALT. (PDF 106 kb

Additional file 3: of A pooled analysis of mesenchymal stem cell-based therapy for liver disease

Results of sensitivity analyses: ALB levels. (PDF 52 kb

Additional file 5: of A pooled analysis of mesenchymal stem cell-based therapy for liver disease

Results of symmetrical contour-enhanced funnel plots combined with trim and fill analysis of ALB. (PDF 165 kb

The loci information of the 27 SNPs in COL9A1、COL9A2 and COL9A3 genes.

<p>^a Stands for the major/minor alleles</p><p>The loci information of the 27 SNPs in COL9A1、COL9A2 and COL9A3 genes.</p

Additional file 6: of A pooled analysis of mesenchymal stem cell-based therapy for liver disease

Results of sensitivity analyses: ALT levels. (PDF 41 kb

Additional file 10: of A pooled analysis of mesenchymal stem cell-based therapy for liver disease

Results of symmetrical contour-enhanced funnel plots combined with trim and fill analysis of TBiL. (PDF 167 kb

Additional file 9: of A pooled analysis of mesenchymal stem cell-based therapy for liver disease

Visualized results of publication bias of TBiL. (PDF 133 kb