Fast and Efficient Mutation Detection Method Using Multiplex PCR and Cycle Sequencing

2000 ◽  
Vol 83 (02) ◽  
pp. 244-247 ◽  
Author(s):  
J. M. Costa ◽  
P. Ernault ◽  
D. Vidaud ◽  
M. Vidaud ◽  
D. Meyer ◽  
...  
Keyword(s):  
Multiplex Pcr ◽  
Mutation Detection ◽  
Detection Method ◽  
Deleterious Mutation ◽  
Low Cost ◽  
Detection Methods ◽  
Cycle Sequencing ◽  
Haemophilia B ◽  
Mild Haemophilia

SummaryA method using multiplex PCR followed by cycle-sequencing has been developed to detect mutations in the FIX gene. The procedure was evaluated in 45 severe or mild haemophilia B patients from 45 unrelated families. At least one deleterious mutation was identified in every haemophiliac demonstrating the efficiency of the method. Furthermore the described procedure offers many advantages compared to other screening detection methods: it is fast (less than 48 h), simple (partly automated) and of relatively low cost (it requires only one PCR).

scholarly journals Analysis of the Effects of Arc Volt–Ampere Characteristics on Different Loads and Detection Methods of Series Arc Faults

Energies ◽  
2019 ◽  
Vol 12 (2) ◽  
pp. 323 ◽  
Author(s):  
Qiwei Lu ◽  
Zeyu Ye ◽  
Yilei Zhang ◽  
Tao Wang ◽  
Zhixuan Gao
Keyword(s):  
Fault Detection ◽  
Research And Development ◽  
Hardware Implementation ◽  
Detection Method ◽  
Low Cost ◽  
Experimental Methods ◽  
Experimental Results ◽  
National Standard ◽  
Detection Methods ◽  
The Relationship

Owing to the shortcomings of existing series arc fault detection methods, based on a summary of arc volt–ampere characteristics, the change rule of the line current and the relationship between the voltage and current are deeply analyzed and theoretically explained under different loads when series arc faults occur. A series arc fault detection method is proposed, and the software flowchart and principles of the applied hardware implementation are given. Finally, a prototype of an arc fault detection device (AFDD) with a rated voltage of 220 V and a rated current of 40 A is developed. The prototype was tested according to experimental methods provided by the Chinese national standard, GB/T 31143-2014. The experimental results show that the proposed detection method is simple and practical, and can be implemented using a low-cost microprocessor. The proposed method will provide good theoretical guidance in promoting the research and development of an AFDD.

scholarly journals Arching Detection Method of Slab Track in High-Speed Railway Based on Track Geometry Data

2020 ◽  
Vol 10 (19) ◽  
pp. 6799
Author(s):  
Zhuoran Ma ◽  
Liang Gao ◽  
Yanglong Zhong ◽  
Shuai Ma ◽  
Bolun An
Keyword(s):  
High Speed ◽  
Large Scale ◽  
Detection Method ◽  
Low Cost ◽  
Detection Methods ◽  
Data Conversion ◽  
Track Geometry ◽  
Slab Track ◽  
Detection Model ◽  
Characteristics Analysis

During the long-term service of slab track, various external factors (such as complicated temperature) can result in a series of slab damages. Among them, slab arching changes the structural mechanical properties, deteriorates the track geometry conditions, and even threatens the operation of trains. Therefore, it is necessary to detect slab arching accurately to achieve effective maintenance. However, the current damage detection methods cannot satisfy high accuracy and low cost simultaneously, making it difficult to achieve large-scale and efficient arching detection. To this end, this paper proposed a vision-based arching detection method using track geometry data. The main works include: (1) data nonlinear deviation correction and arching characteristics analysis; (2) data conversion and augmentation; (3) design and experiments of convolutional neural network- based detection model. The results show that the proposed method can detect arching damages effectively, and the F1-score reaches 98.4%. By balancing the sample size of each pattern, the performance can be further improved. Moreover, the method outperforms the plain deep learning network. In practice, the proposed method can be employed to detect slab arching and help to make maintenance plans. The method can also be applied to the data-based detection of other structural damages and has broad prospects.

scholarly journals Detection methods for springback of assembled camshaft under hydraulic expansion

2021 ◽  
Vol 2125 (1) ◽  
pp. 012026
Author(s):  
Zhiwei Gao ◽  
Lianfa Yang ◽  
Jianping Ma ◽  
Chenchen Don ◽  
Xu Liu ◽  
...  
Keyword(s):  
High Performance ◽  
Detection Method ◽  
Elastic Recovery ◽  
Low Cost ◽  
Tube Hydroforming ◽  
Advanced Technology ◽  
Detection Methods ◽  
Element Simulation ◽  
Strain Detection ◽  
Great Development

Abstract The assembled camshaft under hydraulic expansion has the advantages of low cost, lightweight and high performance, which is an advanced technology with great development potential. By applying the tube hydroforming to the fabrication of assembled camshaft, the expansion principle is due to the different degrees of resilience of the cam and the shaft. Therefore, the effective detection method of elastic recovery of camshaft is of great significance to research how to improve the connection strength of the assembled camshaft. This paper introduces several springback detection methods for assembled camshaft under hydraulic expansion, namely resistance strain detection method, gap dynamic detection method and finite element simulation.

Management of Haemophilia in Sweden

1976 ◽  
Vol 35 (03) ◽  
pp. 510-521 ◽  
Author(s):  
Inga Marie Nilsson
Keyword(s):  
Factor Viii ◽  
Total Population ◽  
Age Groups ◽  
Factor Ix ◽  
Haemophilia A ◽  
Severe Haemophilia ◽  
Haemophilia B ◽  
Human Fraction ◽  
Mild Haemophilia

SummaryThe incidence of living haemophiliacs in Sweden (total population 8.1 millions) is about 1:15,000 males and about 1:30,000 of the entire population. The number of haemophiliacs born in Sweden in 5-year periods between 1931-1975 (June) has remained almost unchanged. The total number of haemophilia families in Sweden is 284 (77% haemophilia A, 23% haemophilia B) with altogether 557 (436 with A and 121 with B) living haemophiliacs. Of the haemophilia A patients 40 % have severe, 18 % moderate, and 42 % mild, haemophilia. The distribution of the haemophilia B patients is about the same. Inhibitors have been demonstrated in 8% of the patients with severe haemophilia A and in 10% of those with severe haemophilia B.There are 2 main Haemophilia Centres (Stockholm, Malmo) to which haemophiliacs from the whole of Sweden are admitted for diagnosis, follow-up and treatment for severe bleedings, joint defects and surgery. Minor bleedings are treated at local hospitals in cooperation with the Haemophilia Centres. The concentrates available for treatment in haemophilia A are human fraction 1-0 (AHF-Kabi), cryoprecipitate, Antihaemophilic Factor (Hyland 4) and Kryobulin (Immuno, Wien). AHF-Kabi is the most commonly used preparation. The concentrates available for treatment in haemophilia B are Preconativ (Kabi) and Prothromplex (Immuno). Sufficient amounts of concentrates are available. In Sweden 3.2 million units of factor VIII and 1.0 million units of factor IX are given per year. Treatment is free of charge.Only 5 patients receive domiciliary treatment, but since 1958 we in Sweden have practised prophylactic treatment of boys (4–18 years old) with severe haemophilia A. At about 5-10 days interval they receive AHF in amounts sufficient to raise the AHF level to 40–50%. This regimen has reduced severe haemophilia to moderate. The joint score is identical with that found in moderate haemophilia in the same age groups. For treatment of patients with haemophilia A and haemophilia B complicated by inhibitors we have used a large dose of antigen (factor VIII or factor IX) combined with cyclophosphamide. In most cases this treatment produced satisfactory haemostasis for 5 to 30 days and prevented the secondary antibody rise.

EVALUATION OF THE ISOLATION AND DETECTION METHODS FOR SALMONELLA SPP. FROM EGG SHELL CONTAMINATION USING MULTIPLEX PCR.

2015 ◽  
Vol 14 (1) ◽  
pp. 282-288
Author(s):  
Israa Adnan Ibraheam Al-Baghdady ◽  
Ashwak Bassim Jassim ◽  
Zainab Khudher Ahmed
Keyword(s):  
Multiplex Pcr ◽  
Detection Methods ◽  
Salmonella Spp ◽  
Egg Shell

scholarly journals PRATD: A Phased Remote Access Trojan Detection Method with Double-Sided Features

Electronics ◽  
2020 ◽  
Vol 9 (11) ◽  
pp. 1894
Author(s):  
Chun Guo ◽  
Zihua Song ◽  
Yuan Ping ◽  
Guowei Shen ◽  
Yuhei Cui ◽  
...  
Keyword(s):  
False Positive ◽  
Detection Method ◽  
False Positive Rate ◽  
True Positive Rate ◽  
Remote Access ◽  
Detection Methods ◽  
Security Threats ◽  
True Positive ◽  
Trojan Detection ◽  
Positive Rate

Remote Access Trojan (RAT) is one of the most terrible security threats that organizations face today. At present, two major RAT detection methods are host-based and network-based detection methods. To complement one another’s strengths, this article proposes a phased RATs detection method by combining double-side features (PRATD). In PRATD, both host-side and network-side features are combined to build detection models, which is conducive to distinguishing the RATs from benign programs because that the RATs not only generate traffic on the network but also leave traces on the host at run time. Besides, PRATD trains two different detection models for the two runtime states of RATs for improving the True Positive Rate (TPR). The experiments on the network and host records collected from five kinds of benign programs and 20 famous RATs show that PRATD can effectively detect RATs, it can achieve a TPR as high as 93.609% with a False Positive Rate (FPR) as low as 0.407% for the known RATs, a TPR 81.928% and FPR 0.185% for the unknown RATs, which suggests it is a competitive candidate for RAT detection.

scholarly journals Detection of Movement Events of Long-Track Speed Skating Using Wearable Inertial Sensors

Sensors ◽  
2021 ◽  
Vol 21 (11) ◽  
pp. 3649
Author(s):  
Yosuke Tomita ◽  
Tomoki Iizuka ◽  
Koichi Irisawa ◽  
Shigeyuki Imura
Keyword(s):  
Gold Standard ◽  
Detection Method ◽  
Standard Measure ◽  
Detection Methods ◽  
Phase Identification ◽  
Foot Pressure ◽  
Pressure System ◽  
Speed Skating ◽  
Stance Time ◽  
Integrated Detection

Inertial measurement units (IMUs) have been used increasingly to characterize long-track speed skating. We aimed to estimate the accuracy of IMUs for use in phase identification of long-track speed skating. Twelve healthy competitive athletes on a university long-track speed skating team participated in this study. Foot pressure, acceleration and knee joint angle were recorded during a 1000-m speed skating trial using the foot pressure system and IMUs. The foot contact and foot-off timing were identified using three methods (kinetic, acceleration and integrated detection) and the stance time was also calculated. Kinetic detection was used as the gold standard measure. Repeated analysis of variance, intra-class coefficients (ICCs) and Bland-Altman plots were used to estimate the extent of agreement between the detection methods. The stance time computed using the acceleration and integrated detection methods did not differ by more than 3.6% from the gold standard measure. The ICCs ranged between 0.657 and 0.927 for the acceleration detection method and 0.700 and 0.948 for the integrated detection method. The limits of agreement were between 90.1% and 96.1% for the average stance time. Phase identification using acceleration and integrated detection methods is valid for evaluating the kinematic characteristics during long-track speed skating.

scholarly journals Rapid and Sensitive Detection of miRNA Based on AC Electrokinetic Capacitive Sensing for Point-of-Care Applications

Sensors ◽  
2021 ◽  
Vol 21 (12) ◽  
pp. 3985
Author(s):  
Nan Wan ◽  
Yu Jiang ◽  
Jiamei Huang ◽  
Rania Oueslati ◽  
Shigetoshi Eda ◽  
...  
Keyword(s):  
Limit Of Detection ◽  
Point Of Care ◽  
Low Cost ◽  
Clinical Diagnostics ◽  
Detection Methods ◽  
Capacitive Sensing ◽  
Application Potential ◽  
Mirna Detection ◽  
Mirna 25 ◽  
Low Sensitivity

A sensitive and efficient method for microRNAs (miRNAs) detection is strongly desired by clinicians and, in recent years, the search for such a method has drawn much attention. There has been significant interest in using miRNA as biomarkers for multiple diseases and conditions in clinical diagnostics. Presently, most miRNA detection methods suffer from drawbacks, e.g., low sensitivity, long assay time, expensive equipment, trained personnel, or unsuitability for point-of-care. New methodologies are needed to overcome these limitations to allow rapid, sensitive, low-cost, easy-to-use, and portable methods for miRNA detection at the point of care. In this work, to overcome these shortcomings, we integrated capacitive sensing and alternating current electrokinetic effects to detect specific miRNA-16b molecules, as a model, with the limit of detection reaching 1.0 femto molar (fM) levels. The specificity of the sensor was verified by testing miRNA-25, which has the same length as miRNA-16b. The sensor we developed demonstrated significant improvements in sensitivity, response time and cost over other miRNA detection methods, and has application potential at point-of-care.

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