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

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.

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Urinary N-terminal Pro-Brain Natriuretic Peptide in Newborn Infants with Cardiac and Pulmonary Diseases

American Journal of Perinatology ◽

10.1055/s-0041-1740213 ◽

2021 ◽

Author(s):

Marwa M. Elgendy ◽

Rania Salah Elzayat ◽

Mostafa Abdo ◽

Hamed M. Elsharkawy ◽

Maha Allam ◽

...

Keyword(s):

Predictive Value ◽

Congenital Heart ◽

Screening Tool ◽

Heart Diseases ◽

Full Term ◽

Congenital Heart Diseases ◽

Control Groups ◽

Term Neonates ◽

And Control ◽

Cardiac Group

Abstract Objectives The aim of this study was to assess the feasibility of urinary N-terminal pro-brain natriuretic peptide (NT-proBNP) as noninvasive screening tool for congenital heart diseases in full-term neonates with respiratory distress. Study Design A prospective cohort study was conducted on 90 full-term infants. Newborn were assigned into three groups: pulmonary, cardiac, and control groups. Urinary NT-proBNP were measured in all studied groups at day 1 (NT-proBNP1) and day 5 (NT-proBNP5). Results Urinary NT-proBNP1 was higher in cardiac group compared with pulmonary and control groups (488 ± 91, 321 ± 80, and 218 ± 41 ng/L, respectively; p ≤ 0.001). NT-proBNP5 was lower in pulmonary and control group than cardiac group (245 ± 84, 137 ± 39, and 546 ± 284 ng/L, respectively, with p ≤ 0.001). Receiver operating characteristic (ROC) analysis was performed to assess predictive value of NT-proBNP1 in cardiac and pulmonary populations. ROC showed area under curve of 0.97 and cutoff point of ≥386.5 ng/L referring to a cardiac etiology with sensitivity of 93.3%, specificity of 86.7%, negative predictive value of 93%, and positive predictive value of 88%. Conclusion Urinary NT-proBNP is feasible to be a noninvasive screening tool to predict congenital heart diseases in full-term neonates. Further studies are needed to assess the correlation between plasma and urinary levels of NT-proBNP in congenital heart diseases in full-term and preterm infants.

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The role of prognostic score systems in biventricular repair of different congenital heart diseases combined with left heart hypoplasia

CHILDREN’S HEART AND VASCULAR DISEASES ◽

10.24022/1810-0686-2018-15-3-150-158 ◽

2018 ◽

Vol 15 (3) ◽

pp. 150-158

Author(s):

S.V. Kalashnikov ◽

D.O. Berishvili

Keyword(s):

Congenital Heart ◽

Heart Diseases ◽

Prognostic Score ◽

Congenital Heart Diseases ◽

Left Heart ◽

Biventricular Repair ◽

Score Systems

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Role of Reticulocyte Hemoglobin Content in Prediction of Iron Deficiency Anemia in Pediatric Congenital Heart Diseases at Zagazig University Hospitals

Zagazig University Medical Journal ◽

10.21608/zumj.2021.15744.1411 ◽

2021 ◽

Vol 0 (0) ◽

pp. 0-0

Author(s):

bashir soltan ◽

Bashir Hassan ◽

Ahmed Abdel Moniem

Keyword(s):

Iron Deficiency ◽

Iron Deficiency Anemia ◽

Congenital Heart ◽

Heart Diseases ◽

Deficiency Anemia ◽

Congenital Heart Diseases ◽

University Hospitals ◽

Hemoglobin Content ◽

Reticulocyte Hemoglobin Content

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Role of Counseling in Fetal Congenital Heart Diseases

Fetal and Hybrid Procedures in Congenital Heart Diseases ◽

10.1007/978-3-319-40088-4_4 ◽

2016 ◽

pp. 23-27

Author(s):

Maria Giovanna Russo ◽

Fiorella Fratta ◽

Beniamino Tormettino ◽

Nicola Colacurci

Keyword(s):

Congenital Heart ◽

Heart Diseases ◽

Congenital Heart Diseases

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

Biomedical Engineering Applications Basis and Communications ◽

10.4015/s101623722050012x ◽

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.

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