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RISS 인기검색어
- 검색키워드
- 저자 : Xiaoting Shen (검색결과 3 건)
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Xiaoting Shen,DongJia Chen,Yan Xu,Yu Fu,Canquan Zhou 한국바이오칩학회 2019 BioChip Journal Vol.13 No.2
Here, we present the successful application of two different preimplantation genetic testing for monogenic diseases (PGT-M) methods for a couple facing the genetic risk of Achondroplasia (ACH). The first preimplantation genetic haplotyping (PGH) cycle was based on short tandem repeats (STRs) and 8 STRs were chosen. The multiple displacement amplification (MDA) products were analyzed using the informative STR loci and PCR-restriction enzyme digestion of FGFR3. A healthy girl was delivered. Two years later, we performed the second PGT-M cycle for this couple with a newly established PGT-M platform based on next generation sequencing (NGS). Haplotype analysis was established by a selection of several informative single nucleotide polymorphisms (SNPs). Preimplantation genetic testing for aneuploidy (PGT-A) was also performed on embryos with normal FGFR3 genotype. Another healthy girl was born. PGH system could be established using STRs or NGS-SNP systems. The NGS-SNP system could detect more sites and simultaneously performs PGT-A with an automated operation.
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Shen Lin,Dong Lin,Yiyuan Li,Lixian Zhong,Wei Zhou,Yajing Wu,Chen Xie,Shaohong Luo,Xiaoting Huang,Xiongwei Xu,Xiuhua Weng 한국역학회 2023 Epidemiology and Health Vol.45 No.-
OBJECTIVES: The aim of this study was to evaluate the disease burden of prostate cancer (PC) and assess key influencing factors associated with the disease expenditures of PC in the United States. METHODS: The total deaths, incidence, prevalence, and disability-adjusted life-years of PC were obtained from the Global Burden of Disease Study 2019. The Medical Expenditure Panel Survey was used to estimate healthcare expenditures and productivity loss and to investigate patterns of payment and use of healthcare resources in the United States. A multivariable logistic regression model was conducted to identify key factors influencing expenditures. RESULTS: For patients aged 50 and older, the burden for all age groups showed a modest increase over the 6-year period. Annual medical expenditures were estimated to range from US$24.8 billion to US$39.2 billion from 2014 to 2019. The annual loss in productivity for patients was approximately US$1,200. The top 3 major components of medical costs were hospital inpatient stays, prescription medicines, and office-based visits. Medicare was the largest source of payments for survivors. In terms of drug consumption, genitourinary tract agents (57.0%) and antineoplastics (18.6%) were the main therapeutic drugs. High medical expenditures were positively associated with age (p=0.005), having private health insurance (p=0.016), more comorbidities, not currently smoking (p=0.001), and patient self-perception of fair/poor health status (p<0.001). CONCLUSIONS: From 2014 to 2019, the national real-world data of PC revealed that the disease burden in the United States continued to increase, which was partly related to patient characteristics.
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Next‑Generation Sequencing‑Based Preimplantation Genetic Testing for De Novo NF1 Mutations
DongJia Chen,Xiaoting Shen,Yan Xu,Bing Cai,Chenhui Ding,Yiping Zhong,Yanwen Xu,Canquan Zhou 한국바이오칩학회 2021 BioChip Journal Vol.15 No.1
Neurofibroma type 1 (NFI) is an autosomal dominant genetic disease associated with cancer and cognitive dysfunction. The 50% de novo mutation rate and numerous mutation types of the NF1 gene pose challenges to preimplantation genetic testing (PGT) for NFI. In 2020, a couple was subjected to next-generation sequencing (NGS)-based PGT at our center. Both husband and wife carried de novo NF1 mutations. Biopsied trophectoderm samples underwent whole-genome amplification using multiple displacement amplification. NGS was conducted to detect NF1 mutations as well as 105 closely linked single-nucleotide polymorphisms (SNPs) flanking NF1. Since no affected family member was available, the affected embryos identified by NF1-targeted sequencing were assigned as probands, based on which a haplotype analysis was constructed with informative SNP sites. Sanger sequencing was administrated for verification. Aneuploidy screening through NGS was performed in the same PGT cycle. Finally, among the nine biopsied blastocysts, two unaffected and euploid blastocysts were obtained in the couple, and one of the blastocysts was transferred in a frozen–thawed embryo transfer (FET) cycle. The outcome of FET is under observation. This study is the first to apply NGS-based PGT for NFI. In cases of sporadic NFI cases without affected family members, NGS-SNP can perform haploid analysis in an accurate manner by assigning the affected embryos as probands.
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