scholarly journals Genotyping of GATA4 Gene Variant (G296S) in Malaysian Congenital Heart Disease Subjects by Real-Time PCR High Resolution Melting Analysis

2013 ◽  
Vol 32 (2) ◽  
pp. 152-157
Author(s):  
Nora Fawzi ◽  
Ramachandran Vasudevan ◽  
Patimah Ismail ◽  
Mazeni Alwi ◽  
Ahmad Fazli Abdul Aziz ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
High Resolution ◽  
Congenital Heart ◽  
High Resolution Melting ◽  
New Technology ◽  
Cost Effective ◽  
Study Cohort ◽  
Hrm Analysis ◽  
Melting Analysis

Summary Background: Congenital heart disease (CHD) is the most common birth defect; however, the underlying etiology is unrecognized in the majority of cases. GATA-binding protein 4 (GATA4), a cardiac transcription factor gene, has a crucial role in the cardiogenesis process; hence, a number of heterozygote sequence variations were identified as a cause of CHD. G296S heterozygote variant is the most frequently reported GATA4 gene sequence alteration. This study aims to investigate the role of G296S variant of the GATA4 gene in Malaysian CHD subjects. Methods: We have investigated 86 Malaysian CHD subjects with cardiac septation defects for the presence of the GATA4 gene heterozygote variant (G296S) by the new technology of high resolution melting (HRM) analysis. Results: Genotyping of G296S (c.886G>A) by HRM analysis shows that all the sample genotypes were of the wild GG type genotype and the heterozygote mutant GA genotype was totally absent from this study cohort. Conclusions: The results of our study showed that the G296S variant of the GATA4 gene was not associated with the development of CHD in Malaysian subjects. The use of HRM analysis proved a cost-effective, high-throughput, specific and sensitive genotyping technique which eliminates the need for unnecessary sequencing.

scholarly journals Evaluation of High Resolution Melting for MTHFR C677T Genotyping in Congenital Heart Disease

PLoS ONE ◽  
2016 ◽  
Vol 11 (3) ◽  
pp. e0151140 ◽  
Author(s):  
Ying Wang ◽  
Haiyan Zhang ◽  
Shuying Yue ◽  
Kun Zhang ◽  
Hui Wang ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
High Resolution ◽  
Congenital Heart ◽  
High Resolution Melting ◽  
Mthfr C677t

Imaging-Based Wave Intensity Analysis: Applications in Congenital Heart Disease

2013 ◽  
Author(s):  
Giovanni Biglino ◽  
Hopewell N. Ntsinjana ◽  
Kim H. Parker ◽  
Silvia Schievano ◽  
Andrew M. Taylor
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Arterial Switch Operation ◽  
Small Population ◽  
Wave Intensity ◽  
Study Cohort ◽  
Intensity Analysis ◽  
Wave Intensity Analysis ◽  
Congenital Aortic Stenosis

Wave intensity analysis is a hemodynamic index evaluating the working condition of the heart in relation to the rest of the vasculature [1]. As such it carries valuable mechanistic information on ventriculo-arterial (VA) coupling. Its applications have ranged from studies of cardiac assist devices to fetal studies. Our group has proposed a way to derive wave intensity from phase-contrast magnetic resonance (PCMR) data [2]. We now suggest that this technique has a duple potential: (a) comparing patients against healthy subjects to investigate VA coupling and mechanistic changes related to surgery or devices, and (b) providing measures and indices to assess hemodynamic scenarios adding valuable mechanistic considerations. We aim to show both applications in the complex field of congenital heart disease. In the first instance, we will use this methodology to assess changes in wave speed and VA coupling in patients with transposition of the great arteries (TGA) repaired with arterial switch operation and palliated with atrial switch. In the second case, we will assess the potential of wave intensity-derived parameters for detecting diastolic dysfunction, and we selected a small population of patients with congenital aortic stenosis as a first suitable study cohort.

scholarly journals The Congenital Heart Disease Genetic Network Study: Cohort description

PLoS ONE ◽  
2018 ◽  
Vol 13 (1) ◽  
pp. e0191319 ◽  
Author(s):  
Thanh T. Hoang ◽  
Elizabeth Goldmuntz ◽  
Amy E. Roberts ◽  
Wendy K. Chung ◽  
Jennie K. Kline ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Genetic Network ◽  
Study Cohort

scholarly journals Evaluating the Performance of Ultrasound Screening for Congenital Heart Disease: A Descriptive Cohort Study

2017 ◽  
Vol 34 (09) ◽  
pp. 905-910 ◽  
Author(s):  
Lindsay Maggio ◽  
Phinnara Has ◽  
Erika Werner ◽  
Dwight Rouse ◽  
Rosemary Froehlich
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Fetal Echocardiography ◽  
Cost Effective ◽  
Cardiac Anomaly ◽  
Cardiac Anatomy ◽  
Ultrasound Screening ◽  
Maternal Fetal Medicine ◽  
Fetal Medicine

Objective The objective of this study was to evaluate the rate of abnormal fetal echocardiogram after normal detailed anatomy ultrasound when both are performed by maternal–fetal medicine specialists. Study Design Retrospective review of women who underwent detailed anatomy ultrasound and fetal echocardiography between 16 and 26 weeks' gestation at a single center. Women included had at least one indication for fetal echocardiography as recommended by the American Institute of Ultrasound in Medicine and normal cardiac anatomy on initial detailed anatomy ultrasound. Women with previous abnormal ultrasound, extracardiac anomalies, and abnormal or incomplete cardiac anatomy on initial examinations were excluded. The primary outcome was abnormal fetal echocardiogram, defined as a structural cardiac anomaly. Results A total of 1,000 women (1,052 fetuses) were included. The most common indication for echocardiography was family history of congenital heart disease. Five fetuses had an abnormal echocardiogram (0.5%, 95% confidence interval: 0.2–1.1%), only one of which altered care. The other four were suspected ventricular septal defects; of these, three were not seen on postnatal cardiac imaging. Conclusion The rate of abnormal fetal echocardiogram after a normal detailed anatomy ultrasound interpreted by maternal–fetal medicine specialists is low. Fetal echocardiography as a second screening test is of low clinical utility and unlikely to be cost-effective in this setting.

scholarly journals Traceability of PDO Olive Oil “Terra di Bari” Using High Resolution Melting

2015 ◽  
Vol 2015 ◽  
pp. 1-7 ◽  
Author(s):  
Cinzia Montemurro ◽  
Monica Marilena Miazzi ◽  
Antonella Pasqualone ◽  
Valentina Fanelli ◽  
Wilma Sabetta ◽  
...  
Keyword(s):  
High Resolution ◽  
Olive Oil ◽  
High Resolution Melting ◽  
Virgin Olive Oil ◽  
Cost Effective ◽  
Extra Virgin Olive Oil ◽  
Hrm Analysis ◽  
Olive Cultivars ◽  
Pcr Products ◽  
Set Up

The aim of the research was to verify the applicability of microsatellite (SSR) markers in High Resolution Melting (HRM) analysis for the identification of the olive cultivars used in the “Terra di Bari” PDO extra virgin olive oil. A panel of nine cultivars, widespread in Apulia region, was tested with seventeen SSR primer pairs and the PCR products were at first analysed with a Genetic Analyzer automatic sequencer. An identification key was obtained for the nine cultivars, which showed an unambiguous discrimination among the varieties constituting the “Terra di Bari” PDO extra virgin olive oil: Cima di Bitonto, Coratina, and Ogliarola. Subsequently, an SSR based method was set up with the DCA18 marker, coupled with HRM analysis for the distinction of the Terra di Bari olive oil from non-Terra di Bari olive oil using different mixtures. Thus, this analysis enabled the distinction and identification of the PDO mixtures. Hence, this assay provided a flexible, cost-effective, and closed-tube microsatellite genotyping method, well suited to varietal identification and authentication analysis in olive oil.

scholarly journals Real-time PCR High-resolution Melting Analysis for the Species Identification of Meat Products: Focusing on Food Safety and Detection of Meat Adulterations

Thrita ◽  
2021 ◽  
Vol In Press (In Press) ◽  
Author(s):  
Peyman Gholamnezhad ◽  
Hamed Ahari ◽  
Gholamreza Nikbakht Brujeni ◽  
Seyed Amir Ali Anvar ◽  
Abbas Ali Motalebi
Keyword(s):  
High Resolution ◽  
Real Time ◽  
Species Identification ◽  
Real Time Pcr ◽  
High Resolution Melting ◽  
Meat Products ◽  
Hrm Analysis ◽  
Melting Analysis ◽  
Meat Species ◽  
Meat Samples

Background: Real-time polymerase chain reaction (PCR) and high-resolution melting (HRM) analysis are currently considered as reliable techniques for the species identification of meat-based products and widely used to detect meat adulteration. Objectives: To examine the validity of real-time PCR and HRM analysis to identify meat species in meat-based products. Methods: Meat samples from five species (i.e., cattle, sheep, chicken, turkey, and wild pig) were purchased. Minced meat from the animal species of interest was prepared at the purities of 10%, and 20% and also were prepared as single and mixtures of two species. For molecular assessments, DNA samples were extracted from all the meat samples and subjected to real-time PCR by amplifying a mitochondrial cytochrome b specific for each species. Results: All the meat species studied in this research were successfully detected in the mixed meat samples when separately examined by real-time PCR. High-resolution melting analysis showed that all the meat species of interest were efficiently distinguished when examined simultaneously. Conclusions: The data presented here shows that the real-time PCR and HRM analysis are reliable methods for the identification of meat species used in meat products.

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