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Background: Aicardi–Goutières syndrome (AGS) is a rare, autosomal recessive, hereditary neurodegenerative disorder. Which is characterized mainly by early onset progressive encephalopathy, concomitant with an increase in interferon-α levels in the cerebrospinal fluid. Preimplantation genetic testing (PGT) is a procedure that could choose unaffected embryos to transferr after analysis of biopsied cells, which allows at-risk couples without facing the risk of pregnancy termination. Methods: Trio-WES, Karyotype and chromosomal microarray analysis (CMA) were used for determining the family’s pathogenic mutations. To blocked the inheritance of the disease, multiple annealing and looping-based amplification cycles (MALBAC) was used for whole genome amplification of biopsied trophectoderm(TE) cells. Sanger sequencing and single nucleotide polymorphism (SNP) haplotyping were used to detect the state of gene mutations. Copy number variations (CNV) analysis was also carried out to prevent embryonic chromosomal abnormalities. Prenatal diagnosis was preformed to verify the PGT outcomes. Results: A total of 3 blastocysts formed after intracytoplasmic sperm injection were biopsied. After genetic analysis, an embyro identified heterozygous mutation in TREX1 without CNVs was transferred. The couple finally got a healthy baby through PGT with haplotype linkage analysis. Conclusions: In this study, we first identified two noval pathogenic mutations in TREX1, which has not been previously reported. Our study provided valuable knowledge of the molecular diagnosis and genetic counseling for AGS and extends the mutation spectrum of TREX1 gene.

Objective: To explore the rationality of the new stage IB of International Federation of Gynecology and Obstetrics (FIGO) 2018 cervical cancer from the open surgical oncology perspective. Methods: Patients with FIGO 2018 stage IB cervical cancer were screened from the clinical diagnosis and treatment for cervical cancer in China (Four C) database including cases from 47 hospitals in mainland China between 2004 and 2018.Firstly, we classified the lymph node-positive cases in the FIGO 2009 stage IB as stage “IIIC-IB”.Then,using Real World Study(RWS) method,we retrospectively compared the 5-year overall survival (OS) and disease-free survival (DFS)of patients with FIGO2018 staged IB1、IB2、IB3 and IIIC-IB . Results:The results were as follows: 1210 cases were in stage IB1, 1315 cases were in stage IB2, 470 cases were in stage IB3, and 868 cases were in stage “IIIC-IB”.(1) In the whole study population, Kaplan-Meier analysis showed statistically meaningful differences in 5-year OS and 5-year DFS in patients with stage IB1、IB2、IB3 and IIIC-IB cervical cancer (OS: 98.4% vs 94.8% vs 92.1%vs 81.9% , PConclusion: The new FIGO 2018 staging strategy is helpful for further distinguishing the survival outcomes of patients with different IB substages, especially IB1、IB2 , but it is not significant for those with IB2、IB3 substages. Patients in the FIGO2009 stage IB disease with positive lymph node metastasis are classified in the FIGO 2018 stage IIIC-IB group, which is helpful for further guiding clinical decision-making and prognosis evaluation.

Objective: To compare the oncological results and surgical outcomes of abdominal Q-M type B and type C2 radical hysterectomy (RH) for patients with FIGO 2018 stage IB1 cervical cancer.Methods: We retrospectively compared the oncological results and surgical outcomes of 1158 cervical cancer patients treated with Q-M type B (n=775) or type C2 (n=383) RH between January 2004 and December 2018 at 47 hospitals in mainland China.Results: The type B group and type C2 group showed similar 5-year DFS and OS rates (OS: 98.5% vs 98.0%, P=0.461; DFS: 94.3% vs 93.3%, p=0.461) in the total study population. Multivariable analysis revealed that Q-M type B RH was not associated with a worse 5-year OS rate (hazard ratio [HR]=1.493; 95% CI=0.522-4.269, P=0.455 95% CI: 0.522-4.269;p=0.455) or DFS rate (HR=1.169;95%CI: 0.650-2.101;p=0.603). Compared with type C2, type C resulted in a significantly shorter operating time (215 min vs. 188 min, P＜0.001). The defecation time and atherization time were less in the type B group than in the type C2 RH group (3.04 d vs. 2.81 d, PConclusion: Among cervical cancer patients with FIGO 2018 stage IB1 disease, the oncological outcomes of Q-M type B RH and Q-M type C2 RH were similar, and Q-M type B RH was associated with a shorter operation time, less intraoperative blood loss and fewer intraoperative complications. This suggests that Q-M type B RH might be an rational option for FIGO 2018 stage IB1 cervical cancer.

Background: A large body of evidence shows that insufficient trophoblast invasion and proliferation contributes to the pathogenesis of fetal growth restriction (FGR). Circular RNAs (circRNAs) were recently recognized to have a part in regulating the trophoblast function. We aim to elucidate the role of circRNAs underlying the development of FGR. Methods: The expression of circRNAs in placenta tissues with and without FGR were identified using next generation sequencing (NGS). In vitro experiments including transfection, qRT-PCR, western blotting, immunofluorescence staining, dual-luciferase assays, cell invasion and migration assays were performed. Results: We found that 18 circRNAs were differentially expressed between the FGR placentas and uncomplicated pregnancies, while the expression of hsa-circ-0005238 was significantly lower in the FGR placentas. Our in vitro experiments further showed that hsa-circ-0005238 inhibited apoptosis and promoted migration, invasion of trophoblast cell lines. The hsa-miR-370-3p was identified as a direct target of hsa-circ-0005238. Mechanistically, hsa-miR-370-3p inhibits invasion and migration of trophoblast cells by suppressing the expression of CDC25B. Conclusions: The findings of the present study suggest that hsa-circ-0005238 play an important role in the pathogenesis of FGR by suppressing trophoblast cell invasion and migration through sponging hsa-miR-370-3p, which may provide new insight into therapeutic target for FGR.

Background Fetal growth restriction (FGR) is a major cause of fetal and neonatal morbidity and mortality. Since meconium microbiome is a critical component for the health of newborns, the aim of this study was to characterize the meconium microbiota in neonates with FGR compared with healthy controls. Methods To avoid bacteria contamination, all included neonates were delivered by elective C-section, with their samples collected in the operation room. We collected meconium samples from 14 neonates affected by FGR and 20 matched healthy newborns. The microbiome profiles were examined by using high-throughput 16S rRNA sequencing and analyzed with customized bioinformatics pipelines. Results The β-diversity analysis demonstrated that FGR neonates clustered together that was distinct from control subjects. A number of taxa were found to be significantly depleted (e.g., Chryseobacterium) or enriched (e.g., Asticcacaulis) in the FGR group. In addition, the coordination network between various intestinal bacteria was found to be altered in FGR neonates. Conclusions FGR neonates exhibited alterations in the composition and symbiosis of microbiome, which will contribute to a better understanding of the relationship between the gut microbiota and FGR.