This study aimed to explore the effects of endometriosis (EMS)-derived exosomes and miR-301a-3p on the polarization of macrophages and investigate the involved molecular mechanism. The exosomes were isolated from ectopic endometrial tissues of EMS patients and normal human serum (NHS). Results of transmission electron microscope and Nanoparticle Tracking Analysis showed that both EMS-exosomes and NHS-exosomes are about 80 nm microvesicles. Exosomal markers CD63 and TSG101 were abundantly expressed in both EMS-exosomes and NHS-exosomes. No negative marker Calnexin was detected in NHS-exosomes. A small amount of Calnexin was detected in EMS-exosomes. THP-1 cells differentiatee to macrophages by incubating with phorbol-12-myristate-13-acetate. Effects of the exosomes on the phagocytosis and polarization of macrophages were evaluated by PKH26 fluorescent labeling and flow cytometry, respectively. Compared with the NHS-exosomes group, the phagocytic capacity of macrophages was reduced and the polarization of macrophages to M2 macrophages was promoted after EMS-exosomes treatment. Results of western blot showed that compared with the NHS-exosomes group, the EMS-exosomes treatment significantly up-regulated the expression of phosphatidylinositol 3-kinase (PI3K) and down-regulated the expression of phosphatase and tensin homologue deleted on chromosome 10 (PTEN). miR-301a-3p mimic, negative control (NC) mimic, miR-301a-3p inhibitor and NC inhibitor were transfected into cells. Transfection efficiency was confirmed by RT-qPCR. Effects of the miR-301a-3p expression on the macrophages polarization and the expression of Arg-1, PTEN and PI3K in the macrophages were evaluated by flow cytometry and western blot, respectively. miR-301a-3p overexpression significantly enhanced the ability of EMS-exosomes-inducing M2 transformation of macrophages, promoted the expression of Arg-1 and PI3K, and inhibited the PTEN expression. miR-301a-3p inhibitor significantly reduced the expression of Arg-1 and PI3K and promoted the PTEN expression. In conclusion, EMS derived exosomal miR-301a-3p mediated macrophage polarization via regulating PTEN-PI3K axis.

Background: Chromosomal microarray analysis (CMA) has been suggested to be routinely conducted for fetuses with ultrasound abnormalities (UA), especially with ultrasound structural anomalies (USA). Whether to routinely offer CMA to women of advanced maternal age (AMA) without UA when undergoing invasive prenatal testing is inconclusive. Objective: This study aimed to evaluate the efficiency of CMA in detecting clinically significant chromosomal abnormalities in fetuses, with or without UA, of women with AMA. Methods: Data from singleton pregnancies referred for prenatal CMA due to AMA, with or without UA were obtained. The enrolled cases were divided into AMA group (group A) and AMA accompanied by UA group (group B). Single nucleotide polymorphism (SNP) array technology and conventional karyotyping were performed simultaneously. Results: A total of 703 cases were enrolled and divided into group A (N = 437) and group B (N = 266). Clinically significant abnormalities were detected by CMA in 52 cases (7.4%, 52/703; the value in group A was significantly lower than that in group B (3.9% vs 13.2%, P < .05); no statistic difference was observed with respect to submicroscopic variants of clinical significance between the two groups (0.9% vs 2.6%, P > .05). Conclusions: Chromosomal microarray analysis should be available to all women with AMA undergoing invasive prenatal testing, regardless of ultrasound findings.

Not much is known about the roles of long non-coding RNAs (lncRNAs) for chronic kidney disease (CKD). In this study, we included CKD patient cohorts and normal controls as a discovery cohort to identify putative lncRNA biomarkers associated with CKD. We first compared the lncRNA expression profiles of CKD patients with normal controls, and identified differentially expressed lncRNAs and mRNAs. Co-expression network based on the enriched differentially expressed mRNAs and lncRNAs was constructed using WGCNA to identify important modules related to CKD. A lncRNA-miRNA-mRNA pathway network based on the hub lncRNAs and mRNAs, related miRNAs, and overlapping pathways was further constructed to reveal putative biomarkers. A total of 821 significantly differentially expressed mRNAs and lncRNAs were screened between CKD and control samples, which were enriched in nine modules using weighted correlation network analysis (WGCNA), especially brown and yellow modules. Co-expression network based on the enriched differentially expressed mRNAs and lncRNAs in brown and yellow modules uncovered 7 hub lncRNAs and 53 hub mRNAs. A lncRNA-miRNA-mRNA pathway network further revealed that lncRNAs of HCP5 and NOP14-AS1 and genes of CCND2, COL3A1, COL4A1, and RAC2 were significantly correlated with CKD. The lncRNAs of NOP14-AS1 and HCP5 were potential prognostic biomarkers for predicting the risk of CKD.

Thalassaemia is highly prevalent in southeastern China. This 10‐year follow‐up study aimed to characterize the genotype and karyotype of thalassaemia in fetal samples derived from thalassemia carriers in Fujian province, southeastern China. A total of 476 prenatal samples from 472 couples carrying α‐thalassaemia traits and 224 samples from 223 couples carrying β‐thalassaemia traits were collected for STR analysis, detection of thalassemia genotypes and karyotyping. The common deletional α‐thalassemias and rare thalassemia genotypes were detected using Gap‐PCR assay, and the common β‐globin gene mutations were detected using PCR‐RDB assay. We detected 43.49% prevalence of α‐thalassaemia minor, 26.05% prevalence of α‐thalassaemia intermediate and major and 1.89% prevalence of rare form among the 476 prenatal samples from couples with α‐thalassaemia, and 85 fetuses with β‐thalassemia heterozygote, 16 with homozygote and 21 with double heterozygote, and a rare β^{IVS−2−654(C→T)}/Chinese G_γ (^Aγδβ)⁰ genotype among the 224 prenatal samples from couples with β‐thalassemia. Karyotyping showed 7 fetuses with abnormal karyotypes. Totally 153 pregnancies were terminated, and genetic diagnosis of thalassemia using fetal umbilical cord blood following induction of labor showed consistent results with prenatal diagnosis. No thalassemia phenotypes were identified in normal infants half a year after birth, and the infants with α‐thalassemia and β‐thalassemia minor had no or mild anemia symptoms, but normal development, while 15 babies with hemoglobin H disease presented moderate anemia symptoms. Our data suggest the pregestational screening of thalassemia, notably compound and rare forms of thalassemia, for couples carrying thalassemia traits.

Background: There is a high carrying rate of α‐thalassemia in Fujian province. However, there are few large‐scale studies on the correlation between genotype and phenotype in Fujian province. The purpose of this study was to analyze the phenotype and genotype in a cohort of 2923 patients with α‐thalassemia in Fujian province, so as to provide reference data for screening and diagnosis of α‐thalassemia in Fujian province. Methods: The genotype of α‐thalassemia was detected by PCR reverse dot blot assay, gap‐PCR, single PCR, nested PCR, and sequencing. Clinical and hematological indices of 2923 patients were collected, and the correlation between genotype and phenotype was analyzed. Results: Among 10,350 patients, 2923 cases were found with α‐thalassemia, with a detection rate of 28.24%. Among them, ‐‐ ^SEA /αα was the most common genotype, accounting for 64.80%. In addition, rare α‐thalassemia genotypes were detected in Fujian province, including ‐‐ ^THAI /αα (0.41%), HKαα/‐‐ ^SEA (0.03%), and the novel α‐thalassemia gene mutation CD5 (GCC>ACC) (HGVS named HBA1: c.16G>A) (0.03%). Patients with deletional genotypes of α‐thalassemia were found to have higher RBC and lower Hb, MCV, MCH, and HbA2 than patients with non‐deletional genotypes of α‐thalassemia ( p < 0.05). Conclusion: The clinical phenotype of α‐thalassemia is influenced by molecular mechanisms. HBA1: c.16G>A mutation is a novel mutation that was first reported in Fujian province, which enriches the human hemoglobin mutation spectrum.

This study aimed to evaluate the applicability of chromosomal microarray analysis (CMA), rather than traditional chromosome analysis, in prenatal diagnosis of ventricular septal defects (VSDs) for superior prenatal genetic counseling and to reveal a potential correlation between submicroscopic chromosomal aberrations and VSDs. Among the 151 VSD cases, 79 (52.3%) had isolated defects and 72 (47.7%) had additional ultrasound anomalies. Karyotype analysis identified 16 chromosomal abnormalities. Besides the 14 cases of chromosome abnormalities consistent with karyotype analysis, CMA identified an additional 20 cases (13.2%) of abnormal copy number variations (CNVs), of which 13 were pathogenetic CNVs, 5 were variations of uncertain clinical significance (VOUS) and 2 were benign CNVs. The detection rate of pathogenic CNVs in non-isolated-VSDs was significantly higher than that in isolated-VSDs (36.1% (26/72) vs. 1.3% (1/79), p = 0.001). We also found that CMA results indicating pathogenic abnormalities affected the rate of pregnancy termination. This study showed that CMA combined with cytogenetic analysis is particularly effective in identifying CNVs in fetuses with VSDs and can have an effect on obstetrical outcomes. The elucidation of the etiology of VSDs suggested that gene mutations or other factors may be implicated.