Genetic predisposition to the development of congenital heart diseases: Role of xenobiotic biotransformation genes

2020 ◽  
Author(s):  
Anna Tsepokina ◽  
Svetlana Shmulevich ◽  
Anastasia Ponasenko ◽  
Andrey Shabaldin
Keyword(s):  
Genetic Predisposition ◽  
Congenital Heart ◽  
Heart Diseases ◽  
Congenital Heart Diseases ◽  
Xenobiotic Biotransformation

Role of Counseling in Fetal Congenital Heart Diseases

2016 ◽  
pp. 23-27
Author(s):  
Maria Giovanna Russo ◽  
Fiorella Fratta ◽  
Beniamino Tormettino ◽  
Nicola Colacurci
Keyword(s):  
Congenital Heart ◽  
Heart Diseases ◽  
Congenital Heart Diseases

A LITERATURE REVIEW ON ANALYSIS OF PALM PATTERNS TO DETECT CONGENITAL HEART DISEASES

2020 ◽  
Vol 32 (02) ◽  
pp. 2050012
Author(s):  
Y. Mahesha ◽  
C. Nagaraju
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Heart Diseases ◽  
Congenital Heart Diseases ◽  
Normal People ◽  
Different Types ◽  
Left And Right ◽  
Paper Method

This paper presents the survey on different techniques which can be used to detect congenital heart disease using palm patterns. The congenital heart disease is one of the heart diseases which starts from birth. Research works are carried out towards detecting congenital heart disease before symptom appears using palm patterns so that it avoids critical health problems in future. Researchers have collected palm prints from normal people who are not suffering from any kind of heart disease and from patients who are suffering from different types of congenital heart diseases. These palm prints are collected from different hospitals. The palm prints are taken using ink and paper method. These palm patterns are analyzed to determine the role of palm pattern while detection of the disease. Few researchers have considered only triradius of palm and most of the researchers have considered palm patterns such as whorl, loop, arch and hypothenar pattern. In case of triradius, researchers have calculated position of axial triradius and it is categorized into three types. In case of whorl, loop and arch, they have considered how often they appear in palm of normal people and patients. Few researchers have analyzed both left and right hands of normal people and patients.

scholarly journals Defects in the interventricular and atrial septa: the contribution of the transcription factor GATA6 and the signal molecule NOTCH1

2020 ◽  
pp. 64-70
Author(s):  
А.В. Цепокина ◽  
А.В. Понасенко ◽  
Н.С. Деева ◽  
А.В. Шабалдин
Keyword(s):  
Congenital Heart ◽  
Heart Diseases ◽  
Modern Medicine ◽  
Gene Interactions ◽  
Congenital Heart Diseases ◽  
Control Groups ◽  
Signal Molecule ◽  
Exogenous Factors ◽  
And Control

Актуальность: Поиск биологических маркёров, вовлеченных в патогенез врожденных пороков сердца (ВПС), остается актуальным вопросом современной медицины и биологии. Врожденные пороки - мультифакторное заболевание, причинами развития которого является взаимовлияющее действие эндогенных и экзогенных факторов. В настоящее время показана роль генов семейства GATA и NOTCH1 в формировании предрасположенности к развитию врожденных пороков сердца. Материалы и методы: Группу исследования составили 58 детей с диагнозом дефекта межжелудочковой и межпредсердной перегородок, в контрольную группу включены 103 ребенка без данной патологии. Генотипирование проводили полимеразной цепной реакцией в режиме реального времени с использованием TaqMan-зондов. Результаты: Исследование встречаемости генотипов генов GATA6 и NOTCH1 в исследуемой и контрольной группах не показало статистически значимых различий. Однако, анализ межгенных взаимодействий при помощи программы MDR 3.0.2. позволил выделить ряд протективных и рисковых генотипов. Заключение: Несмотря на отсутствие статистически значимых различий по частоте встречаемости генотипов, полученные в ходе анализа межгенных связей сочетания генотипов могут быть связаны с предрасположенностью к развитию ВПС. Background: The search for biological markers involved in the congenital heart diseases pathogenesis remains a topical problem in modern medicine and biology. Congenital heart diseases are a multifactorial disease caused by the mutually affecting effects of endogenous and exogenous factors. Currently, the role of GATA and NOTCH1 gene family in the predisposition to development of congenital heart diseases is shown. Materials and methods: 58 children with a diagnosis of congenital heart diseases (defects in the interventricular and atrial septa) and 103 children without this pathology were included in the study and the control groups, respectively. Genotyping was performed by real-time polymerase chain reaction using TaqMan probes Results: A study of the frequencies of the genotypes in the GATA6 and NOTCH1 genes in the study and control groups showed no statistically significant differences. At the same time, the analysis of gene-gene interactions using MDR 3.0.2 software allows to determine a number of protective and risk genotypes. Conclusion: Despite the absence of significant differences in the frequency of genotypes, combinations of genotypes obtained during the analysis of gene-gene interactions may be associated with a predisposition to the development of congenital heart diseases.

Role of cardiac MRI in diagnosis of congenital heart diseases

2018 ◽  
Vol 35 (2) ◽  
pp. 180
Author(s):  
MohamedA Nasr ◽  
MedhatM Eldosoky ◽  
HanyH Lotfy ◽  
NohaH Behery ◽  
ShaheenA Dabour
Keyword(s):  
Cardiac Mri ◽  
Congenital Heart ◽  
Heart Diseases ◽  
Congenital Heart Diseases
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