Clinical significance of serum Th1/Th2 cytokines in patients with endometriosis.

Endometriosis (EMS) is a challenging gynecological disorder prevalent in reproductive-aged women, and Th1/Th2 cytokines are implicated in EMS progression. This study probed the serum levels and clinical values of Th1/Th2 cytokines in EMS patients. Firstly, the clinic characteristics of EMS and control patients were recorded. The levels of interferon (IFN)-γ, interleukin (IL)-2, IL-4, and IL-10 in the serum of EMS and control patients were identified, respectively. The correlations between Th1 and Th2 cytokines and the diagnostic values of these cytokines in EMS were analyzed. We observed that EMS patients had obvious differences from the controls in dysmenorrhea, dyspareunia, pelvic pain, nulliparous, and CA125 levels. Serum IFN-γ and IL-2 were lower while IL-4 and IL-10 were higher in EMS patients. Serum IFN-γ, IL-4 were negatively correlated with serum IL-2, and IL-10 in EMS patients. Th1/Th2 cytokines may help the diagnosis of EMS. Serum IFN-γ and IL-2 were independent protective factors for EMS while dysmenorrhea, dyspareunia, nulliparous, and serum IL-4 and IL-10 were independent risk factors for EMS. Collectively, serum Th1/Th2 cytokine levels helped the diagnosis of EMS, with IFN-γ and IL-2 serving as independent protective factors whilst IL-4 and IL-10 serving as independent risk factors.

Complete genome sequence and organization of a novel virus from the rice false smut fungus Ustilaginoidea virens.

In this study, three dsRNA segments from the rice false smut fungus Ustilaginoidea virens, the causal agent of a serious disease in rice, with molecular size ranging from 1.3 to 5 Kb, were isolated and named as dsRNA-L, dsRNA-M, and dsRNA-S. The complete nucleotide sequences of dsRNA-M and dsRNA-S were determined and analyzed. The dsRNA-M putatively encodes an RNA-dependent RNA polymerase, which is similar to that of the partitiviruses in the family Partitiviridae. Although the protein encoded by dsRNA-S showed less similarity to the typical coat protein of the virus in the family Partitiviridae, the structural analysis results indicated that the dsRNA-S might function as the capsid protein. We propose that the virus is Ustilaginoidea virens partitivirus 2-Uv0901, a new member, but distantly related to the newly proposed genus Gammapartitivirus with a distinct sequence pattern of capsid protein.

Amplicon sequencing-based carrier screening for 170 monogenic disorders among children with abnormal LC-MS/MS results.

BACKGROUND: Next-generation sequencing (NGS) has been suggested as a second-tier diagnostic test for newborn screening, which could help identify the carrier status of hundreds monogenic disorders with wider spectrum and earlier stage. METHODS: Among the 1087 children (age from 27 min to 14 years old) underwent liquid chromatography-tandem mass spectrometry (LC-MS/MS), 290 individuals who had at least one abnormal value of LC-MS/MS measurements were sent for amplicon sequencing-based carrier screening (targeting 141 genes for 170 monogenic disorders). Multiplex polymerase chain reaction was used for amplicon capture and library preparation, the NextSeq 500 NGS platform (Illumina PE150) was used for sequencing. The identified clinical significant variants were further validated by Sanger sequencing. RESULTS: Only 89 children carry none of clinical significant variants, other 201 individuals carry 1-4 variants in 63 genes (132 types; 317 in total: 171 pathogenic, 37 likely pathogenic, 29 variants of unknown significance, and 80 disease-associated functional polymorphisms). Besides the three missing samples with 4 variants, 91.1 % of identified variants (285 variants in 54 genes) were completely validated by Sanger sequencing. The most common genetic variants were in UGT1A1, GJB2, PAH, G6PD, and SLC25A13 (top 5 genes), which corresponding to Gilbert/Crigler-Najjar symdrome (n = 89), autosomal recessive hearing loss type 1A (n = 58), phenylketonuria (n = 12), glucose-6-phosphate dehydrogenease deficiency (n = 11) and Citrin deficiency (n = 9). More than 42 children present higher phenylalanine in LC-MS/MS, but only 12 of them were identified to carry clinical significant variants in PAH gene. CONCLUSION: The amplicon sequencing-based carrier screening in our study could further clarify the abnormal LC-MS/MS results, which could also discover more monogenic disorders uncovered by LC-MS/MS screening.