Preimplantation Genetic Testing of Achondroplasia by Two Haplotyping Systems: Short Tandem Repeats and Single Nucleotide Polymorphism

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.

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.

Modelling Uncertainties and Sensitivity Analysis of Landslide Susceptibility Prediction under Different Environmental Factor Connection Methods and Machine Learning Models

Faming Huang,Haowen Xiong,Xiaoting Zhou,Filippo Catani,Jinsong Huang 대한토목학회 2024 KSCE Journal of Civil Engineering Vol.28 No.1

The utilization of different connection methods between landslides and environmental factors introduces uncertainty in landslide susceptibility prediction (LSP). Investigating and identifying the characteristics of this uncertainty and determining more suitable connection methods are of significant importance for LSP. This study uses original 12 environmental factors data as well as calculated data from five connection methods, namely, probability statistics (PS), frequency ratio (FR), information volume (IV), index of entropy (IOE), and weight of evidence (WOE), as model input variables. Then, four machine learnings logistic regression (LR), Bayesian networks (BN), support vector machines (SVM) and C5.0 Decision Trees (C5.0 DT) are combined with the calculated data and the original data to create 24 unique combinations of connection methods and models. Under these 24 combinations, the uncertainty analysis of LSP modeling is conducted, using Huichang County of China as an example. The analysis entails accuracy assessment, statistical analysis of landslide susceptibility indexes (LSIs), distribution patterns of LSIs and sensitivity analysis of the two uncertainty issues. The results show that: 1) LSP accuracies of the FR-, IV- and IOE-based models are comparable, but are lower than those of the WOE-based models, with those of the PS-based models being the worst. WOE has better nonlinear connection performance than the other methods. 2) LSP accuracies of individual models are slightly lower than those of coupled models, but their modeling efficiencies are higher than those of coupled models. 3) The machine learning is more sensitive than the connection method for LSP. In short, WOE-C5.0 DT has the lowest LSP uncertainty while a single machine learning can produce satisfied LSP results with high modelling efficiency.

Reaction kinetics for synthesis of isopropyl myristate catalyzed by sulfated titania

Ting Qiu,Lihua Zhou,Yu Niu,Jinbei Yang,Chenggang Li,Xiaoting Guo,Ling Li 한국화학공학회 2016 Korean Journal of Chemical Engineering Vol.33 No.8

Sulfated titania (SO4 2−/TiO2) was prepared and characterized by nitrogen adsorption-desorption, FT-IR, thermostability analyzer, XRD and particle size analyzer. The esterification of myristic acid (MA) with isopropanol (IPOH) catalyzed by the solid super acid SO4 2−/TiO2 was studied. The effect of reaction kinetics conditions such as temperature, stirrer speed, initial mole ratio of alcohol to acid, and catalyst loading on the conversion of myristic acid was investigated. A second-order pseudo-homogeneous model was developed to calculate the rate of the reaction, and then the kinetic parameters were estimated. The calculated values were in agreement with experimental data.

Intercropping garlic at different planting times and densities for insect pest or crop yield and value management in tobacco fields

Rongquan LAI,Chaozhi ZHU,Jingjing BAI,Xiaoting WU,Gang GU,Jianbao BAI,Ting ZHOU,Dingfeng WANG,Hanqing HU,Tianran LIN 한국곤충학회 2020 Entomological Research Vol.50 No.3

Although the densities of tobacco pests have been decreased in garlic-tobacco fields, further studies are needed to judge the effects of garlic transplanting densities or times on tobacco pests in tobacco fields. Therefore, field experiments were conducted in Liancheng County in Longyan City, Fujian Province, in China in 2014 and 2015. Myzus persicae (Sulzer) abundance, the species or abundance ratios of enemies and pests, the intercropping effects and the tobacco yield and crop value showed that the effects of transplanting tobacco 10 days after garlic transplantation at a density of 5.85 individual plants per square meter on pests were stronger than those of other treatments. Aphid abundance was significantly lower in transplanting tobacco 10 days after garlic transplantation at a density of 5.85 individual plants per square meter than in the other treatments. The ratio between enemies and pests in transplanting tobacco 10 days after garlic transplantation at a density of 5.85 individual plants per square meter was higher than those in the other treatments. The intercropping effects of transplanting tobacco 10 days after garlic transplantation at a density of 5.85 individual plants per square meter on Myzus persicae, Spodoptera litura (Fabricius), Heliothis assulta Guenee and Nezara viridula Linnaeus were significantly stronger than those of the other treatments, whereas the effects of transplanting tobacco 15 days after garlic transplantation at a garlic density of 5.85 individual plants per square meter on Agrotis ypsilon (Rottemberg) were significantly stronger. Additionally, the yield and crop value of transplanting tobacco 10 days after garlic was transplanted at a density of 5.85 individual plants m ̅2 were higher than those of the other treatments. Therefore, our study demonstrated that the model of transplanting tobacco 10 days after garlic was transplanted at a density of 5.85 individual plants m ̅2 is an optimal management strategy to control flue-cured tobacco pests and to acquire higher crop yield in garlic-tobacco fields.

Disease burden of prostate cancer from 2014 to 2019 in the United States: estimation from the Global Burden of Disease Study 2019 and Medical Expenditure Panel Survey

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.

Disease burden of prostate cancer from 2014 to 2019: estimation from the Global Burden of Disease Study 2019 and Medical Expenditure Panel Survey

Lin Shen,Lin Dong,Li Yiyuan,Zhong Lixian,Zhou Wei,Wu Yajing,Xie Chen,Luo Shaohong,Huang Xiaoting,Xu Xiongwei,Weng Xiuhua 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.