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Background: Aicardi–Goutières syndrome (AGS) is a rare, autosomal recessive, hereditary neurodegenerative disorder. It 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 be used to choose unaffected embryos for transfer after analysis of biopsied cells, which prevents at-risk couples from facing the risk of pregnancy termination. Methods: Trio-based whole exome sequencing, karyotyping and chromosomal microarray analysis were used to determine the pathogenic mutations for the family. To block the inheritance of the disease, multiple annealing and looping-based amplification cycles was used for whole genome amplification of the biopsied trophectoderm cells. Sanger sequencing and next-generation sequencing (NGS)-based single nucleotide polymorphism (SNP) haplotyping were used to detect the state of the gene mutations. Copy number variation (CNV) analysis was also carried out to prevent embryonic chromosomal abnormalities. Prenatal diagnosis was preformed to verify the PGT outcomes. Results: A novel compound heterozygous mutation in TREX1 gene was found in the proband causing AGS. A total of 3 blastocysts formed after intracytoplasmic sperm injection were biopsied. After genetic analyses, an embryo harbored a heterozygous mutation in TREX1 and without CNV was transferred. A healthy baby was born at 38th weeks and prenatal diagnosis results confirmed the accuracy of PGT. Conclusions: In this study, we identified two novel pathogenic mutations in TREX1, which has not been previously reported. Our study extends the mutation spectrum of TREX1 gene and contributes to the molecular diagnosis as well as genetic counseling for AGS. Our results demonstrated that combining NGS-based SNP haplotyping for PGT-M with invasive prenatal diagnosis is an effective approach to block the transmission of AGS and could be applied to prevent other monogenic diseases. [ABSTRACT FROM AUTHOR]

Background: Chemotherapy is one of the important treatment methods for advanced non-small cell lung cancer (NSCLC). The aim of this study is to evaluate the efficacy of the combination of vinorelbine (NVB) and cisplatin (DDP) in the treatment of advanced NSCLC., Methods: Forty-eight patients with stage IIIB and IV NSCLC were treated with NVB (25mg/m² ,iv,d1 and d8) and DDP (40mg/m², d1 and d2)., Results: The overall response rate (RR) was 48%, median survival time was 10 months, and 1-year survival rate was 35%. The RR of patients with first-line chemotherapy was 55%, median survival time was 11 months, the RR of patients with second-line chemotherapy was 35%, median survival time was 8 months; the RR of patients with stage IIIB was 54%, median survival time was 10 months, the RR of patients with stage IV was 41%, median survival time was 9 months. The main toxicities were myelosuppression, nausea, vomiting and phlebitis., Conclusions: The combination of NVB and DDP in the treatment of advanced NSCLC has a high response rate and tolerable side effects, which can be adopted as the first-line treatment of advanced NSCLC, or the second line treatment that still need further studies.