Introduction: In pediatric kidney patients, where clinical presentation is often not fully developed, and renal biopsy is too risky or inconclusive, it may be difficult to establish the underlying pathology. In cases such as these, genetic diagnosis may be used to guide treatment, prognosis, and counseling. Given the large number of genes involved in kidney disease, introducing next-generation sequencing with extended gene panels as part of the diagnostic algorithm presents a viable solution.
View Article and Find Full Text PDFBackground: Decreased expression of the T cell receptor (TCR) ζ-chain has been reported in autoimmune diseases. Recent evidence suggests that this deficiency may be due to polymorphisms in the CD3Z (CD247) gene and/or due to promoter hypermethylation.
Methods: Altogether 131 subjects - 36 with dermatomyositis (DM) and 95 healthy controls were genotyped for rs1052230 G > C and rs1052231 T > A polymorphisms using TaqMan assay.
Objective: To evaluate the diagnostic value of peripheral blood microribonucleic acid (miRNA, miR)-146a and miR-155 expression in systemic lupus erythematosus (SLE). Methods: Expression levels of miR-155 and miR-146a in whole peripheral blood samples from 40 SLE patients and 32 healthy controls (HCs) were determined by quantitative reverse transcription-polymerase chain reaction qRT-PCR (SYBR Green technology) and 2-∆∆Ct method was used for analysis. SPSS v20 was used for receiver operating characteristic (ROC) curve and Spearman correlation analysis.
View Article and Find Full Text PDFObjective: The bactericidal/permeability-increasing, fold-containing family member A1 (BPIFA1) gene codes a secretory protein (BPIFA1), which is present in the respiratory tract mucosa, and is part of the innate immune system. This study aimed to prove that BPIFA1 gene expression exists in the human middle ear mucosa.
Materials And Methods: In total, 32 patients participated in the study between March 2016 and September 2016.