Chromosome microarray analysis(CMA) is a cost-effective molecular cytogenetic technique that has been used as a first-line diagnostic test in neurodevelopmental disorders in the USA since 2011. The impact of CMA resul...Chromosome microarray analysis(CMA) is a cost-effective molecular cytogenetic technique that has been used as a first-line diagnostic test in neurodevelopmental disorders in the USA since 2011. The impact of CMA results on clinical practice in China is not yet well studied, so we aimed to better evaluate this phenomenon.We analyzed the CMA results from 434 patients in our clinic, and characterized their molecular diagnoses, clinical features, and follow-up clinical actions based on these results. The overall diagnostic yield for our patients was 13.6%(59 out of 434). This gave a detection rate of 14.7%for developmental delay/intellectual disability(DD/ID,38/259) and 12% for autism spectrum disorders(ASDs,21/175). Thirty-three recurrent(n≥2) variants were found, distributed at six chromosomal loci involving known chromosome syndromes(such as DiGeorge, Williams Beuren, and Angelman/Prader-Willi syndromes).The spectrum of positive copy number variants in our study was comparable to that reported in Caucasian populations, but with specific characteristics. Parental origin tests indicated an effect involving a significant maternal transmission bias to sons. The majority of patients with positive results(94.9%) had benefits, allowing earlier diagnosis(36/59), prioritized full clinical management(28/59), medication changes(7/59), a changed prognosis(30/59), and prenatal genetic counseling(15/59). Our results provide information on de novo mutations in Chinese children with DD/ID and/or ASDs. Our data showed that microarray testing provides immediate clinical utility for patients. It is expected that the personalized medical care of children with developmental disabilities will lead to improved outcomes in long-term developmental potential.We advocate using the diagnostic yield of clinically actionable results to evaluate CMA as it provides information of both clinical validity and clinical utility.展开更多
Pretreatment on vegetable and fruit is a key chain of drying process. The research analyzed mechanisms and applications of different pretreatments such as blanching, freezing, liquid glucose pretreatment, NaCI dipping...Pretreatment on vegetable and fruit is a key chain of drying process. The research analyzed mechanisms and applications of different pretreatments such as blanching, freezing, liquid glucose pretreatment, NaCI dipping, and high-voltage elec- tric field, and proposed the development prospect.展开更多
[Objective] Based on the cotton variety high yielding potential, fiber quality traits, disease resistance, and early maturity characters, a cultivar registration index model was developed to simplify the tedious calcu...[Objective] Based on the cotton variety high yielding potential, fiber quality traits, disease resistance, and early maturity characters, a cultivar registration index model was developed to simplify the tedious calculation process in national cotton registration procedure, and thus to enhance the practical application of cultivar regis- tration index in cotton breeding ancl cotton recommending. [Method] By means of correlation analysis, partial correlation analysis and path analysis methods, the cor- relation of cotton main properties and their effects on cultivar registration index were explored using the dataset of national cotton regional trials in Yangtze River Valley during 1996-2013. The cultivar registration index model was constructed with step- wise regression statistical technique to ascertain the quantitative relationship of main characters with cultivar registration index, and the regional cotton trial dataset in 2013 was used to validate the model. [Result] Several characters with larger deter- minants to cultivar registration index were screened out,ie. lint yield increase ratio, pro-frost yield ratio, verticillium wilt index, fiber strength, fusarium wilt index and mi- cronaire value. The cultivar registration index model defined the functional relation- ship of cultivar registration index with the selected main characters, among which lint yield increase ratio, fiber strength and micronaire value contributed most to culti- var registration index. The model validation with regional cotton trials in 2013 indi- cated the root mean square error, RMSE was only 2.77, and the variation coeffi- cient was 6.77%, which confirmed the model prediction effect was quite perfect. [Conclusion] The developed cultivar registration index model was reliable enough to simulate the complicated scoring system in cultivar registration procedure, also sim- plified cotton registration process, and enhanced the practicability of the cultivar reg- istration index.展开更多
基金supported by grants from the National Natural Science Foundation of China (81761128035 and 81781220701)the Shanghai Municipal Science and Technology Committee (17XD1403200 and 18dz2313505)+2 种基金the Research Physician Project of Shanghai Municipal Education Commission (20152234)the Shanghai Municipal Health and Family Planning Commission (GDEK201709, 2017ZZ02026, and 2017EKHWYX02)the Scientific Program of Shanghai Shenkang Hospital Development Center (16CR2025B) of China
文摘Chromosome microarray analysis(CMA) is a cost-effective molecular cytogenetic technique that has been used as a first-line diagnostic test in neurodevelopmental disorders in the USA since 2011. The impact of CMA results on clinical practice in China is not yet well studied, so we aimed to better evaluate this phenomenon.We analyzed the CMA results from 434 patients in our clinic, and characterized their molecular diagnoses, clinical features, and follow-up clinical actions based on these results. The overall diagnostic yield for our patients was 13.6%(59 out of 434). This gave a detection rate of 14.7%for developmental delay/intellectual disability(DD/ID,38/259) and 12% for autism spectrum disorders(ASDs,21/175). Thirty-three recurrent(n≥2) variants were found, distributed at six chromosomal loci involving known chromosome syndromes(such as DiGeorge, Williams Beuren, and Angelman/Prader-Willi syndromes).The spectrum of positive copy number variants in our study was comparable to that reported in Caucasian populations, but with specific characteristics. Parental origin tests indicated an effect involving a significant maternal transmission bias to sons. The majority of patients with positive results(94.9%) had benefits, allowing earlier diagnosis(36/59), prioritized full clinical management(28/59), medication changes(7/59), a changed prognosis(30/59), and prenatal genetic counseling(15/59). Our results provide information on de novo mutations in Chinese children with DD/ID and/or ASDs. Our data showed that microarray testing provides immediate clinical utility for patients. It is expected that the personalized medical care of children with developmental disabilities will lead to improved outcomes in long-term developmental potential.We advocate using the diagnostic yield of clinically actionable results to evaluate CMA as it provides information of both clinical validity and clinical utility.
基金Supported by National Natural Science Foundation of China(31360399)~~
文摘Pretreatment on vegetable and fruit is a key chain of drying process. The research analyzed mechanisms and applications of different pretreatments such as blanching, freezing, liquid glucose pretreatment, NaCI dipping, and high-voltage elec- tric field, and proposed the development prospect.
基金Supported by National Major Projects for the GMO Cultivation of New Varieties in China(2012ZX08013015)
文摘[Objective] Based on the cotton variety high yielding potential, fiber quality traits, disease resistance, and early maturity characters, a cultivar registration index model was developed to simplify the tedious calculation process in national cotton registration procedure, and thus to enhance the practical application of cultivar regis- tration index in cotton breeding ancl cotton recommending. [Method] By means of correlation analysis, partial correlation analysis and path analysis methods, the cor- relation of cotton main properties and their effects on cultivar registration index were explored using the dataset of national cotton regional trials in Yangtze River Valley during 1996-2013. The cultivar registration index model was constructed with step- wise regression statistical technique to ascertain the quantitative relationship of main characters with cultivar registration index, and the regional cotton trial dataset in 2013 was used to validate the model. [Result] Several characters with larger deter- minants to cultivar registration index were screened out,ie. lint yield increase ratio, pro-frost yield ratio, verticillium wilt index, fiber strength, fusarium wilt index and mi- cronaire value. The cultivar registration index model defined the functional relation- ship of cultivar registration index with the selected main characters, among which lint yield increase ratio, fiber strength and micronaire value contributed most to culti- var registration index. The model validation with regional cotton trials in 2013 indi- cated the root mean square error, RMSE was only 2.77, and the variation coeffi- cient was 6.77%, which confirmed the model prediction effect was quite perfect. [Conclusion] The developed cultivar registration index model was reliable enough to simulate the complicated scoring system in cultivar registration procedure, also sim- plified cotton registration process, and enhanced the practicability of the cultivar reg- istration index.
