Improvement in the sensitivity of newborn screening for Fabry disease among females through the use of a high-throughput and cost-effective method, DNA mass spectrometry

2017 ◽  
Vol 63 (1) ◽  
pp. 1-8 ◽  
Author(s):  
Yung-Hsiu Lu ◽  
Po-Hsun Huang ◽  
Li-Yun Wang ◽  
Ting-Rong Hsu ◽  
Hsing-Yuan Li ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Newborn Screening ◽  
Fabry Disease ◽  
High Throughput ◽  
Cost Effective ◽  
Cost Effective Method

scholarly journals Simple, Fast, and Cost-Effective Fabrication of Wafer-Scale Nanohole Arrays on Silicon for Antireflection

2014 ◽  
Vol 2014 ◽  
pp. 1-6 ◽  
Author(s):  
Di Di ◽  
Xuezhong Wu ◽  
Peitao Dong ◽  
Chaoguang Wang ◽  
Jian Chen ◽  
...  
Keyword(s):  
High Throughput ◽  
Crystalline Silicon ◽  
Colloidal Crystal ◽  
Cost Effective ◽  
Wafer Scale ◽  
Crystalline Silicon Solar Cells ◽  
Cost Effective Method ◽  
Nanohole Arrays ◽  
Coating Method ◽  
Hole Arrays

A simple, fast, and cost-effective method was developed in this paper for the high-throughput fabrication of nanohole arrays on silicon (Si), which is utilized for antireflection. Wafer-scale polystyrene (PS) monolayer colloidal crystal was developed as templates by spin-coating method. Metallic shadow mask was prepared by lifting off the oxygen etched PS beads from the deposited chromium film. Nanohole arrays were fabricated by Si dry etching. A series of nanohole arrays were fabricated with the similar diameter but with different depth. It is found that the maximum depth of the Si-hole was determined by the diameter of the Cr-mask. The antireflection ability of these Si-hole arrays was investigated. The results show that the reflection decreases with the depth of the Si-hole. The deepest Si-hole arrays show the best antireflection ability (reflection < 9%) at long wavelengths (>600 nm), which was about 28 percent of the nonpatterned silicon wafer’s reflection. The proposed method has the potential for high-throughput fabrication of patterned Si wafer, and the low reflectivity allows the application of these wafers in crystalline silicon solar cells.

Rab5 Affinity Chromatography without Nonhydrolyzable GTP Analogues

2009 ◽  
Vol 64 (3-4) ◽  
pp. 303-306 ◽  
Author(s):  
Makoto Hagiwara ◽  
Ken-Ichi Kobayashi ◽  
Tadahiro Tadokoro ◽  
Yuji Yamamoto
Keyword(s):  
Mass Spectrometry ◽  
Affinity Chromatography ◽  
Membrane Trafficking ◽  
Binding Proteins ◽  
Present Report ◽  
Cost Effective ◽  
Small Gtpase ◽  
Cost Effective Method ◽  
Dimensional Electrophoresis

Rab5 is an important small GTPase involved in endocytosis and membrane trafficking. Rab5-binding proteins can be identified using Rab5 affinity chromatography with nonhydrolyzable GTP analogues such as GTPγS or GppNHp. However, this method requires significant quantities of the GTP analogue and is thus time-consuming and expensive. In the present report we show a faster and more cost-effective method that does not use a GTP analogue but uses constitutively the active Rab5 mutant (Rab5Q79L) as a ligand. To validate this method, the binding of EEA-1 was confirmed and several novel Rab5-binding proteins were also identified by 2-dimensional electrophoresis and liquid chromatographymass spectrometry/mass spectrometry (LC-MS/MS).

scholarly journals Genetic Analysis of colorectal carcinoma using high throughput SNP genotyping technique within the population of Jammu and Kashmir

2021 ◽  
Author(s):  
Bhanu Sharma ◽  
Shabab Angurana ◽  
Amrita Bhat ◽  
Sonali Verma ◽  
Divya Bakshi ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
High Throughput ◽  
Cost Effective ◽  
Snp Genotyping ◽  
Colorectal Carcinogenesis ◽  
P Value ◽  
Jammu And Kashmir ◽  
Cost Effective Method ◽  
Underlying Causes ◽  
Multiple Samples

Abstract Background SNP genotyping has become increasingly more common place to understand the genetic basis of complex diseases like cancer. SNP-genotyping through massARRAY is a cost-effective method to quantitatively analyse the variation of gene expression in multiple samples, making it a potential tool to identify the underlying causes of colorectal carcinogenesis. Methods In the present study, SNP genotyping was carried out using Agena mass ARRAY, which is a cost-effective, robust, and sensitive method to analyse multiple SNPs simultaneously. We analysed 7 genes in 492 samples (100 cases and 392 controls) associated with CRC within the population of Jammu and Kashmir. These SNPs were selected based on their association with multiple cancers in literature. Results This is the first study to explore these SNPs with colorectal cancer within the J&K population.7 SNPs with a call rate of 90% were selected for the study. Out of these, one SNP i.e. rs2229080 of DCC was found to be significantly associated with the current study and 6 were non-significantly associated with CRC within the studied population. The allelic OR observed for the variant rs2229080 of DCC was 1.5 (1.1–2.3 at 95% CI), p value = 0.02. Conclusion This is the first study to find the relation of Genetic variants with the colorectal cancer within the studied population using high throughput mass ARRAY technology. It is further anticipated that the variants should be evaluated in other population groups that may aid in understanding the genetic complexity and bridge the missing heritability.

Wire mask assisted rolling as a cost-effective method for high-throughput surface micro-texturing

2020 ◽  
Vol 30 (7) ◽  
pp. 075010
Author(s):  
Anvesh Gaddam ◽  
Ashwin Prabhakaran ◽  
Amit Agrawal ◽  
Suhas S Joshi
Keyword(s):  
High Throughput ◽  
Cost Effective ◽  
Cost Effective Method

scholarly journals Genetic Analysis of colorectal carcinoma using high throughput SNP genotyping technique within the population of Jammu and Kashmir.

2021 ◽  
Author(s):  
Bhanu Sharma ◽  
Shabab Angurana ◽  
Amrita Bhat ◽  
Sonali Verma ◽  
Divya Bakshi ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
High Throughput ◽  
Cost Effective ◽  
Snp Genotyping ◽  
Colorectal Carcinogenesis ◽  
P Value ◽  
Jammu And Kashmir ◽  
Cost Effective Method ◽  
Underlying Causes ◽  
Multiple Samples

Abstract Background SNP genotyping has become increasingly more common place to understand the genetic basis of complex diseases like cancer. SNP-genotyping through massARRAY is a cost-effective method to quantitatively analyse the variation of gene expression in multiple samples, making it a potential tool to identify the underlying causes of colorectal carcinogenesis.Methods In the present study, SNP genotyping was carried out using Agena mass ARRAY, which is a cost-effective, robust, and sensitive method to analyse multiple SNPs simultaneously. We analysed 7 genes in 492 samples (100 cases and 392 controls) associated with CRC within the population of Jammu and Kashmir. These SNPs were selected based on their association with multiple cancers in literature.Results This is the first study to explore these SNPs with colorectal cancer within the J&K population.7 SNPs with a call rate of 90% were selected for the study. Out of these, one SNP i.e. rs2229080 of DCC was found to be significantly associated with the current study and 6 were non-significantly associated with CRC within the studied population. The allelic OR observed for the variant rs2229080 of DCC was 1.5 (1.1–2.3 at 95% CI), p value = 0.02.Conclusion This is the first study to find the relation of Genetic variants with the colorectal cancer within the studied population using high throughput mass ARRAY technology. It is further anticipated that the variants should be evaluated in other population groups that may aid in understanding the genetic complexity and bridge the missing heritability.

scholarly journals How to Choose Diseases for Newborn Screening by Tandem Mass Spectrometry Under the Nationally Recommended Program in Shenzhen, China Evidence From a Cost-Effectiveness Analysis

2021 ◽  
Author(s):  
Mingren Yu ◽  
Juan Xu ◽  
Xiaohong Song ◽  
Jiayue Du
Keyword(s):  
Mass Spectrometry ◽  
Cost Effectiveness ◽  
Tandem Mass Spectrometry ◽  
Newborn Screening ◽  
Screening Program ◽  
Cost Effective ◽  
Tandem Mass ◽  
National Program ◽  
Screening Programs ◽  
The Cost

Abstract Background: Newborn screening (NBS) can prevent inborn errors of metabolism (IEMs), which may cause long-term disability and even death in newborns. However, in China, tandem mass spectrometry (MS/MS) screening has just started. This study is to determine the cost-effectiveness of NBS using MS/MS in Shenzhen under the nationally recommended program, and determine IEMs for detection.Methods: A Markov model was built to estimate the cost and quality-adjusted life-years (QALYs) of different screening programs. The current screening program and nationally recommended program were compared and we also compared the programs detecting different numbers of IEMs, which are chosen from the national program. A sensitivity analysis and budget impact analysis (BIA) were performed.Results: The incremental cost-effectiveness ratio (ICER) of detecting all 12 IEMs in the national program is 277,823 RMB per QALY, below three times per capita GDP in Shenzhen. MS/MS screening in Shenzhen can be cost-effective only if at least three diseases (PKU, PCD and MMA) are covered and when the screening program covers five diseases (PKU, PCD, MMA, MSUD, IVA), the ICER closely approaches its critical value. The BIA indicated the implementation cost of the national program to be around 580 million RMB over 10 years and showed no difference in budget between programs detecting different numbers of IEMs. Conclusions: We conclude that the newborn screening using MS/MS in Shenzhen is cost-effective, and the budget affordable for the Shenzhen government. Two concepts for selecting the IEMs to be detected, which we label the “ICER maximization idea” and the “ICER validation idea” are also presented.

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