scholarly journals The role of maternal HLA-DR and HLA-G loci in determining the risk of sporadic congenital heart defects in the next generation

2021 ◽  
Vol 66 (5) ◽  
pp. 42-48
Author(s):  
N. S. Deeva ◽  
A. V. Tsepokina ◽  
S. A. Shmulevich ◽  
A. V. Shabaldin
Keyword(s):  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Human Leukocyte ◽  
Next Generation ◽  
Chain Reaction ◽  
Hla Dr ◽  
Polymerase Chain ◽  
Chromosomal Diseases

The paper considers the role of maternal HLA-DR (Human Leukocyte Antigens-DR) and HLA-G (Human Leukocyte Antigen-G) loci in determining the risk of the formation of sporadic congenital heart defects without chromosomal diseases in the next generation. The HLA-G molecule expressed on trophoblast performs a protective function by blocking killer receptors on natural killer cells (NK cells). At the same time, the maternal alleles of HLA-DRB1 restrict the immune response to allogeneic antigens of the paternal embryo, which may affect the severity of inflammation in the mother-embryo system and through this mechanism induce the formation of heart disease.Objective: to study the frequency distribution of the combinations of alleles and genotypes of HLA-G 3’UTR and HLA-DRB1 in women with children with sporadic congenital heart defects without chromosomal diseases. Children characteristics and research methods. There were formed 2 groups: Main Group (103 women with children with sporadic congenital heart defects without chromosomal diseases) and Control Group (103 women with conditionally healthy children). Genomic DNA was isolated by phenol-chloroform extraction. Typing of HLA-G 3’UTR 14-bp insertion/deletion was performed by amplification of polymorphic regions of genes by polymerase chain reaction with further electrophoretic detection in polyacrylamide gel 6.0. The frequency analysis of 14 alleles of the HLA-DRB1 gene was performed by real-time polymerase chain reaction. In the course of this work the authors identified predictor and protective combined genotypes.Conclusion. HLA-DRB1 and HLA-G 3’UTR 14-bp ins/del (rs 1704) make a significant contribution to determining the risk of the formation of sporadic congenital heart defects without chromosomal diseases in the next generation.

scholarly journals Changes in the expression of HLA-DR on lymphocyte subpopulations of spouses having children with sporadic congenital heart defects without chromosomal diseases, under the influence of female’s autoserum

2021 ◽  
Vol 23 (1) ◽  
pp. 143-148
Author(s):  
A. V. Shabaldin ◽  
S. V. Grivtsova ◽  
N. S. Deeva ◽  
S. A. Shmulevich ◽  
A. V. Tsepokina ◽  
...  
Keyword(s):  
Immune Response ◽  
Mixed Culture ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Married Couples ◽  
Control Group ◽  
Study Group ◽  
Hla Dr ◽  
Chromosomal Diseases

This study is aimed to investigate the effect of female autoserum on the HLA-DR expression in various subpopulations of lymphocytes obtained from spouses with children with sporadic congenital heart defects without chromosomal diseases. 78 married couples with children with congenital heart disease were included in the study group. The control group was formed from 35 married couples with healthy children. The immune response in a mixed culture of lymphocytes of spouses was evaluated by an increased HLA-DR expression in a mixed culture in relation to spontaneous cultures of lymphocytes. Primary staining of female and male lymphocytes by monoclonal antibodies to CD45 conjugated with various fluorescent dyes (PC-5 and PC-7) was performed to assess the immune response of female lymphocytes to male ones and vice versa. The activating effect of female autoserum on all subpopulations of female lymphocytes simultaneously occurred significantly less frequently in the study group compared to the control. The control group was characterized by the domination of the positive effect of female autoserum on HLA-DR expression for all subpopulations of female lymphocyte. For all female lymphocytes having HLA-DR molecule on its membrane, the blocking effect of female autoserum in the study group was significantly more expressed in relation to the control group. Thus, the effect of female autoserum is manifested in relation to the HLA-DR expression on its own lymphocytes, but not on the lymphocytes of the spouse.

Role of Ultrasonography in Early Gestation in the Diagnosis of Congenital Heart Defects

2010 ◽  
Vol 29 (5) ◽  
pp. 817-821 ◽  
Author(s):  
Reem S. Abu-Rustum ◽  
Linda Daou ◽  
Sameer E. Abu-Rustum
Keyword(s):  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Early Gestation

The Role of Telemedicine in Paediatric Cardiology

2013 ◽  
pp. 44-88
Author(s):  
Brian A. McCrossan ◽  
Frank A. Casey
Keyword(s):  
Economic Evaluation ◽  
Medical Imaging ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Pilot Project ◽  
Clinical Service ◽  
Current Evidence ◽  
Paediatric Cardiology

Paediatric cardiology is a subspecialty ideally suited to telemedicine. A small number of experts cover large geographical areas and the diagnosis of congenital heart defects is largely dependent on the interpretation of medical imaging. Telemedicine has been applied to a number of areas within paediatric cardiology. However, its widespread uptake has been slow and fragmentary. In this chapter the authors examine the current evidence pertaining to telemedicine applied to paediatric cardiology, including their own experience, the importance of research and, in particular, economic evaluation in furthering telemedicine endeavours. Perhaps most importantly, they discuss the issues relating transitioning a pilot project into a sustainable clinical service.

Potential role of “omics” technique in prenatal diagnosis of congenital heart defects

2018 ◽  
Vol 482 ◽  
pp. 185-190
Author(s):  
Lizhu Chen ◽  
Johnny Guan ◽  
Qiuju Wei ◽  
Zhengwei Yuan ◽  
Mo Zhang
Keyword(s):  
Prenatal Diagnosis ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Potential Role ◽  
Heart Defects

scholarly journals Role of Risk of Bias in Systematic Review for Chemical Risk Assessment: A Case Study in Understanding the Relationship Between Congenital Heart Defects and Exposures to Trichloroethylene

2018 ◽  
Vol 37 (2) ◽  
pp. 125-143 ◽  
Author(s):  
Daniele Wikoff ◽  
Jon D. Urban ◽  
Seneca Harvey ◽  
Laurie C. Haws
Keyword(s):  
Risk Assessment ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Risk Of Bias ◽  
Assessment Process ◽  
Chemical Risk ◽  
Chemical Risk Assessment

The National Academy of Science has recommended that a risk of bias (RoB; credibility of the link between exposure and outcome) assessment be conducted on studies that are used as primary data sources for hazard identification and dose–response assessment. Few applications of such have been conducted. Using trichloroethylene and congenital heart defects (CHDs) as a case study, we explore the role of RoB in chemical risk assessment using the National Toxicology Program’s Office of Health Assessment and Translation RoB tool. Selected questions were tailored to evaluation of CHD and then applied to 12 experimental animal studies and 9 epidemiological studies. Results demonstrated that the inconsistent findings of a single animal study were likely explained by the limitations in study design assessed via RoB (eg, lack of concurrent controls, unvalidated method for assessing outcome, unreliable statistical methods, etc). Such limitations considered in the context of the body of evidence render the study not sufficiently reliable for the development of toxicity reference values. The case study highlights the utility of RoB as part of a robust risk assessment process and specifically demonstrates the role RoB can play in objectively selecting candidate data sets to develop toxicity values.

scholarly journals Mediator complex proximal Tail subunit MED30 is critical for Mediator core stability and cardiomyocyte transcriptional network

PLoS Genetics ◽  
2021 ◽  
Vol 17 (9) ◽  
pp. e1009785
Author(s):  
Changming Tan ◽  
Siting Zhu ◽  
Zee Chen ◽  
Canzhao Liu ◽  
Yang E. Li ◽  
...  
Keyword(s):  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Rapid Development ◽  
Core Stability ◽  
Mediator Complex ◽  
Transcriptional Networks ◽  
Adult Cardiomyocytes

Dysregulation of cardiac transcription programs has been identified in patients and families with heart failure, as well as those with morphological and functional forms of congenital heart defects. Mediator is a multi-subunit complex that plays a central role in transcription initiation by integrating regulatory signals from gene-specific transcriptional activators to RNA polymerase II (Pol II). Recently, Mediator subunit 30 (MED30), a metazoan specific Mediator subunit, has been associated with Langer-Giedion syndrome (LGS) Type II and Cornelia de Lange syndrome-4 (CDLS4), characterized by several abnormalities including congenital heart defects. A point mutation in MED30 has been identified in mouse and is associated with mitochondrial cardiomyopathy. Very recent structural analyses of Mediator revealed that MED30 localizes to the proximal Tail, anchoring Head and Tail modules, thus potentially influencing stability of the Mediator core. However, in vivo cellular and physiological roles of MED30 in maintaining Mediator core integrity remain to be tested. Here, we report that deletion of MED30 in embryonic or adult cardiomyocytes caused rapid development of cardiac defects and lethality. Importantly, cardiomyocyte specific ablation of MED30 destabilized Mediator core subunits, while the kinase module was preserved, demonstrating an essential role of MED30 in stability of the overall Mediator complex. RNAseq analyses of constitutive cardiomyocyte specific Med30 knockout (cKO) embryonic hearts and inducible cardiomyocyte specific Med30 knockout (icKO) adult cardiomyocytes further revealed critical transcription networks in cardiomyocytes controlled by Mediator. Taken together, our results demonstrated that MED30 is essential for Mediator stability and transcriptional networks in both developing and adult cardiomyocytes. Our results affirm the key role of proximal Tail modular subunits in maintaining core Mediator stability in vivo.

Hox and Tale transcription factors in heart development and disease

2018 ◽  
Vol 62 (11-12) ◽  
pp. 837-846 ◽  
Author(s):  
Fabienne Lescroart ◽  
Stephane Zaffran
Keyword(s):  
Transcription Factors ◽  
Congenital Heart Defects ◽  
Heart Development ◽  
Congenital Heart ◽  
Hox Genes ◽  
Heart Defects ◽  
First Year ◽  
First Year Of Life ◽  
Cardiac Mesoderm

Hox genes are highly conserved transcription factors with critical functions during development, in particular for patterning the antero-posterior axis of the embryo. Their action is very often associated with cofactors including the TALE family transcription factors. From Drosophila to vertebrates, Hox genes have been shown to have a major role in heart development. In this review, we focus on the increasing evidence implicating the anterior Hox genes and the Tale family members during heart development both in the cardiac mesoderm and in neural crest cells. Congenital heart defects are the leading cause of death in the first year of life and a better understanding of the role of Hox and Tale factors is highly relevant to human pathologies and will provide novel mechanistic insights into the underlying defects.

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