scholarly journals Analysis of the interconnection of the GSTP1, CYP1A2, CYP1A1 genes in children with congenital heart diseases

2020 ◽  
Vol 65 (3) ◽  
pp. 39-43
Author(s):  
A. V. Tsepokina ◽  
A. V. Ponasenko ◽  
A. V. Shabaldin
Keyword(s):  
Congenital Heart ◽  
Heart Diseases ◽  
Heart Defects ◽  
Congenital Heart Diseases ◽  
Genotype Distribution ◽  
Healthy Children ◽  
Rt Pcr ◽  
Locus Model ◽  
Healthy Donors ◽  
Pcr Method

The article presents data on the study of gene interconnections between the xenobiotics detoxification genes in various phases.Materials and methods. The study involves 131 children with congenital heart diseases (CHD) and 103 conditionally healthy children. The genotyping was performed by RT-PCR method using TaqMan probes. Intergenic bonds were analyzed via MDR v.3.0.2.Results and conclusion. We discovered no statistically significant differences in the genotype distribution in children with CHD and conditionally healthy donors. The analysis of intergenic interactions helped to develop a five-locus model characterized by the highest reproducibility, sensitivity and specificity: GSTP1 rs1793068 – GSTP1 rs6591256 – GSTP1 rs1871042 – CYP1A1 rs1048943 – CYP1A2 rs762551. This model was used to determine a number of protective and risky combinations of congenital heart defects-associated genotypes in children.

scholarly journals Роль материнских полиморфных вариантов гена HLA-G3'UTR 14-bp *ins/del в реализации генетического детерминирования риска формирования спорадических септальных врожденных пороков сердца без хромосомных болезней

2019 ◽  
Author(s):  
A.V. Shabaldin ◽  
A.V. Tsepokina ◽  
A.V. Ponasenko ◽  
E.V. Shabaldina
Keyword(s):  
Heart Defects ◽  
Main Group ◽  
Control Group ◽  
Healthy Children ◽  
Rt Pcr ◽  
Homozygous Genotype ◽  
Xenobiotic Biotransformation ◽  
Pcr Method ◽  
Mathematical Processing ◽  
Chromosomal Diseases

Врожденные пороки сердца (ВПС) являются ведущей патологией среди всех пороков и аномалий развития плода. Известно, что тератогенный эффект ксенобиотика будет максимально представлен при нарушенных иммунных взаимодействиях в системе мать-эмбрион . Неоднократно показано, что женский гомозиготный генотип HLA-G 3UTR 14-bp ins/ins ассоциирован с репродуктивными потерями. Цель исследования. Изучить распределение аллелей и генотипов генов биотрансформации ксенобиотиков у женщин, имеющих детей с ВПС, носительниц вариантных генотипов HLA-G 3UTR 14-bp ins/del. Материал и методы. Обследованы 103 женщины, у которых дети при рождении имели врожденный порок сердца без хромосомных заболеваний и родословной историей, а также 103 женщины (контрольная группа), родивших двух здоровых детей и более. Типирование полиморфных сайтов генов HLA-G 3UTR 14-bpins/del, GSTM1 (rs74837985), CYP1A1 (rs1048943) CYP1A2 (rs35694136, rs762551) GSTT1 (rs2266633, rs2266637, rs2234953) GSTP1 (rs6591256, rs1695, rs1871042, rs1793068), GATA 6 (rs10454095) проводили методом RT-PCR. Результаты. Показано, что у женщин основной группы, являющихся носительницами гомозиготного генотипа 14-bp ins/ins HLA-G 3UTR, статистически значимо чаще встречались гетерозиготные генотипы GSTP1 (rs6591256) A/G (р0,01 отношение шансов ОШ5,1, 2,5710,27), GSTP (rs1793068) G/T (р0,01 ОШ5,1, 2,5710,27), CYP1A2 (rs762551) A/C (р0,01 ОШ6,81, 3,3513,73) и гомозиготный минорный генотип GSTP1 (rs1871042) T/T (р0,001 ОШ7,32, 3,6214,76) по сравнению с группой контроля. В основной группе женщин G/G rs74837985 GSTM1 статистически значимо реже (р0,01 ОШ 0,20, 0,06-0,59) встречался у носительниц 14-bp ins/ins HLA-G 3UTR по сравнению с носительницами гетерозиготного генотипа 14-bp ins/del HLA-G 3UTR. Заключение. В ходе исследования установлено, что при одновременном носительстве мутантных аллелей HLA-G и генов системы транформации ксенобиотиков риски рождения детей с дефектом межжелудочковой перегородки выше, чем при носительстве изолированных мутаций.Congenital heart defects (CHD) are the leading pathologies among all congenital malformations and fetal development abnormalities. It is known that the teratogenic effect of xenobiotic will be maximally presented in the case of disturbed immune interactions in the mother-embryo system. It has been repeatedly shown that the female homozygous genotype HLA-G 3UTR 14-bp ins/ins is associated with reproductive losses. The purpose of this study was to study the distribution of alleles and genotypes of xenobiotic biotransformation genes in women with children with CHD, carriers of variant HLA-G 3UTR 14-bp ins/del genotypes. Material and method: It was examined 103 women whose children had a ventricular septal defect (VSD) without chromosomal diseases and a pedigree history at birth, and 103 women (control group) who gave birth to two or more healthy children. The typing of polymorphic sites of the genes HLA-G 3UTR 14-bp ins/del, GSTM1 (rs74837985), CYP1A1 (rs1048943) CYP1A2 (rs35694136, rs762551) GSTT1 (rs2266633, rs2266637, rs2234953) GSTP1 (rs6591256, rs1695, rs1871042, rs1793068), GATA 6 (rs10454095) was performed by the RT-PCR method. Mathematical processing was carried out using the application software STATISTICA 8.0 (StatSoftInc., USA) and SNPstats. Results: It was shown that the heterozygous genotypes GSTP1 (rs6591256) A / G (p0.01, OR5.1 (2.5710.27)), GSTP (rs1793068) G / T (p0.01, OR5.1 (2.5710.27)), CYP1A2 (rs762551) A/C (p0.01, OR6.81 (3.3513.73)) and the homozygous minor genotype GSTP1 (rs1871042) T/T (p0.001, OR7.32 (3.6214.76) ) were statistically significantly more frequent in the main group of women who are carriers of the homozygous genotype 14-bp ins/ins HLA-G 3UTR, in comparison with the control group. In the main group of women G/G rs74837985 GSTM1 statistically significantly less (p0.01, OR0.20 (0.060.59)) was found in carriers of 14-bp ins / ins HLA-G 3UTR, in comparison with carriers of the heterozygous genotype 14-bp ins/del HLA-G 3UTR. Conclusion: It was found that with the simultaneous carrier of the mutant alleles of HLA-G and the genes of the xenobiotics transformation system, the risk of having children with VSD is higher, compared with the carriage of isolated mutations.

Fetal echocardiography in Lithuania: traditions, significance and problems

2010 ◽  
Vol 17 (3-4) ◽  
pp. 116-122
Author(s):  
Ramunė VANKEVIČIENĖ
Keyword(s):  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Diseases ◽  
Fetal Echocardiography ◽  
Heart Defects ◽  
Tertiary Care ◽  
Congenital Heart Diseases ◽  
Conduction Disturbances ◽  
Tertiary Care Centers ◽  
Almost All

Background. The discovery of ultrasound has made a revolution in almost all fields of medicine. The past three decades have withessed an intensive development of fetal echocardiography methods and technique. The aim of the paper is to present a review of the results and trends of the last 10 years of fetal echocardiography in Lithuania and to show the spectrum and outcomes of prenatally detected congenital heart diseases. Materials and methods. Fetal echocardiography was performed for 1816 fetuses during the period from 1999 to 2009. Results. Cardiac pathology was diagnosed in 176 (9.7%) fetuses. Heart defects were detected in 112 (63.6%) of them, cardiac rhythm and conduction disturbances in 62 (35.2%), cardiomyopathy in 2 (1.1%) fetuses, and heart rhabdomyoma in 1 (0.6%) fetus. The general rate of the postnatal diagnosis of congenital heart defects in Lithuania was about 10%. Most of fetal cardiac diseases (70.5%) were diagnosed after 22 weeks of gestation. Because most of antenatally diagnosed congenital heart defects (74%) were critical and inconsistent with life, a large part of newborns (40.2%) died in the neonatal period, 10.7% of fetuses died in utero, and 8% of pregnancies were terminated by abortion. The data demonstrate good tendencies: the diagnosis has become earlier, a wider spectrum of diseases have been diagnosed, more newborns have survived. Our survey shows that 41.1% of newborns with prenatally diagnosed congenital heart defects have survived. Conclusions. 10% of severe congenital heart diseases are detected prenatally in Lithuania. The efficacy of antenatal diagnostics depends on the qualification of specialists, the number of tertiary care centers, on a successful collaboration among pediatric cardiologists, obstetricians and geneticists. The main problem is an insufficient preparation of obstetricians, the uncertified favor of pediatric cardiologist. Keywords: congenital heart disease, fetal echocardiography, antenatal diagnostics

scholarly journals Result of airway reconstruction by slide tracheobronchoplasty in children with congenital heart diseases and severe airway stenosis at Hanoi Heart Hospital: A series case report

2021 ◽  
Vol 35 ◽  
pp. 67-74
Author(s):  
Tong Duy Phuc ◽  
Nguyen Sinh Hien ◽  
Nguyen Dang Hung ◽  
Vuong Hoang Dung
Keyword(s):  
Congenital Heart ◽  
Heart Diseases ◽  
Heart Defects ◽  
Case Series ◽  
Congenital Heart Diseases ◽  
Tracheobronchial Stenosis ◽  
Airway Stenosis ◽  
Heart Repair ◽  
Airway Reconstruction ◽  
Heart Hospital

Abstract: Congenital airway stenosis (tracheobronchial stenosis) in children is rare, difficult to treat and become more complex when associated with congenital heart defects. In severe airway stenosis, slide tracheobronchoplasty is the most optimal strategy to manage this condition, yet really challenging. We report case series with this combined condition of airway stenosis and congenital heart diseases, which were successfully treated by slide tracheobronchoplasty with concomitant heart repair. We also discuss about the indication, surgical technique as well as postoperative care.

scholarly journals Myocardial Injury in Children with Unoperated Congenital Heart Diseases

2015 ◽  
Vol 2015 ◽  
pp. 1-5 ◽  
Author(s):  
Mohamed O. Hafez ◽  
Saed M. Morsy ◽  
Ragab A. Mahfoz ◽  
Ahmed R. Ali
Keyword(s):  
Congenital Heart ◽  
Myocardial Injury ◽  
Heart Diseases ◽  
Pressure Overload ◽  
Systemic Arterial Pressure ◽  
Control Group ◽  
Congenital Heart Diseases ◽  
Healthy Children ◽  
Early Management ◽  
And Control

Background.Children with congenital heart diseases (CHDs) may have a risk of developing myocardial injury caused by volume and pressure overload.Objective.To evaluate the incidence of myocardial injury in children with cyanotic and acyanotic CHDs using cTnI assay and to correlate it with different hemodynamic parameters.Methods.This study included 80 children with CHDs (40 acyanotic and 40 cyanotic) as well as 40 healthy children (control group). Serum cTnI levels were measured for patients and control. Pulmonary to systemic blood flow (Qp/Qs) and pulmonary to systemic arterial pressure (Pp/Ps) ratios were measured for children with CHDs during cardiac catheterization.Results.Sixty-four out of 80 patients with CHDs had myocardial injury as evidenced by increased cTnI. Serum cTnI was significantly higher in both cyanotic and acyanotic groups compared to control group (p<0.05). Serum cTnI level significantly correlated with oxygen saturation (SpO2), ejection fraction (EF), Qp/Qs, and Pp/Ps ratios.Conclusion.The incidence of myocardial injury was high in children with CHDs. The use of cTnI for follow-up of children with CHDs may help early detection of myocardial injury and help early management of these cases.

scholarly journals Association and interaction effect of UCP2 gene polymorphisms and dietary factors with congenital heart diseases in Chinese Han population

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Senmao Zhang ◽  
Xiaoying Liu ◽  
Tingting Wang ◽  
Lizhang Chen ◽  
Tubao Yang ◽  
...  
Keyword(s):  
Congenital Heart ◽  
Heart Diseases ◽  
Dietary Factors ◽  
Unknown Etiology ◽  
Congenital Heart Diseases ◽  
Healthy Children ◽  
Positive Interaction ◽  
Ucp2 Gene ◽  
Excessive Intake ◽  
Pickled Vegetables

AbstractCongenital heart diseases (CHDs) are the most common birth defects and the leading cause of non-infectious deaths in infants, with an unknown etiology. We aimed to assess the association of genetic variations in UCP2 gene, dietary factors, and their interactions with the risk of CHDs in offspring. The hospital-based case–control study included 464 mothers of children with CHDs and 504 mothers of healthy children. The exposures of interest were maternal dietary factors in early pregnancy and UCP2 genetic variants. Logistic regression analyses were used to assess the association and interaction of UCP2 gene and dietary factors with CHDs. Our results found that the polymorphisms of UCP2 gene at rs659366 and rs660339, together with maternal dietary factors including excessive intake of pickled vegetables and smoked foods were associated with increased risks of CHDs in offspring. Regular intake of fresh meat, fish and shrimp, and milk products were associated with lower risks of CHDs in offspring. Besides, positive interaction between the dominant model of rs659366 and excessive intake of pickled vegetables was found in the additive interaction model (RERI = 1.19, P = 0.044). These findings provide the theoretical basis for gene screening and a new clue for the prevention of CHDs in offspring.

scholarly journals Nonmedical Determinants of Congenital Heart Diseases in Children from the Perspective of Mothers: A Qualitative Study in Iran

2021 ◽  
Vol 2021 ◽  
pp. 1-10
Author(s):  
Maryam Borjali ◽  
Mostafa Amini-Rarani ◽  
Mehdi Nosratabadi
Keyword(s):  
Qualitative Study ◽  
Congenital Heart ◽  
Heart Diseases ◽  
Heart Defects ◽  
Well Being ◽  
Noncommunicable Diseases ◽  
Congenital Heart Diseases ◽  
Semistructured Interview ◽  
Congenital Diseases ◽  
The World

Introduction. Mortality due to noncommunicable diseases has increased in the world today with the advent of demographic shifts, growing age, and lifestyle patterns in the world, which have been affected by economic and social crises. Congenital heart defects are one of the forms of diseases that have raised infant mortality worldwide. The objective of present study was to identify nonmedical determinants related to this abnormality from the mother’s perspectives. Methods. This research was a qualitative study and the data collection method was a semistructured interview with mothers who had children with congenital heart diseases referring to the Shahid Rajaei Heart Hospital in Tehran, Iran. A thematic analysis approach was employed to analyze transcribed documents assisted by MAXQDA Plus version 12. Results. Four general themes and ten subthemes including social contexts (social harms, social interactions, and social necessities), psychological contexts (mood disorders and mental well-being), cultural contexts (unhealthy lifestyle, family culture, and poor parental health behaviors), and environmental contexts (living area and polluted air) were extracted from interviews with mothers of children with congenital heart diseases. Conclusions. Results suggest that factors such as childhood poverty, lack of parental awareness of congenital diseases, lack of proper nutrition and health facilities, education, and lack of medical supervision during pregnancy were most related with the birth of children with congenital heart disease from mothers’ prospective. In this regard, targeted and intersectorial collaborations are proposed to address nonmedical determinants related to the incidence of congenital heart diseases.

scholarly journals Cardiopulmonary fitness in children with congenital heart diseases versus healthy children

Heart ◽  
2017 ◽  
Vol 104 (12) ◽  
pp. 1026-1036 ◽  
Author(s):  
Pascal Amedro ◽  
Arthur Gavotto ◽  
Sophie Guillaumont ◽  
Helena Bertet ◽  
Marie Vincenti ◽  
...  
Keyword(s):  
Clinical Characteristics ◽  
Congenital Heart ◽  
Heart Diseases ◽  
Female Gender ◽  
Cardiopulmonary Exercise Test ◽  
Congenital Heart Diseases ◽  
Healthy Children ◽  
Normal Children ◽  
Cross Sectional ◽  
Cardiopulmonary Fitness

ObjectiveWe aimed to compare the cardiopulmonary fitness of children with congenital heart diseases (CHD) with that of age-adjusted and gender-adjusted controls. We also intended to identify clinical characteristics associated with maximum oxygen uptake (VO2max) in this population.Methods and resultsWe included in a cross-sectional multicentre study a total of 798 children (496 CHD and 302 controls) who underwent a complete cardiopulmonary exercise test (CPET). The association of clinical characteristics with VO2max was studied using a multivariate analysis. Mean VO2max in the CHD group and control represented 93%±20% and 107%±17% of predicted values, respectively. VO2max was significantly lower in the CHD group, overall (37.8±0.3vs 42.6±0.4 mL/kg/min, P<0.0001) and for each group (P<0.05). The mean VO2max decline per year was significantly higher in CHD than in the controls overall (−0.84±0.10 vs −0.19±0.14 mL/kg/min/year, P<0.01), for boys (−0.72±0.14vs 0.11±0.19 mL/kg/min/year, P<0.01) and for girls (−1.00±0.13 vs −0.55±0.21 mL/kg/min/year, P=0.05). VO2max was associated with body mass index, ventilatory anaerobic threshold, female gender, restrictive ventilatory disorder, right ventricle systolic hypertension, tricuspid regurgitation, the number of cardiac catheter or surgery procedures, and the presence of a genetic anomaly.ConclusionsAlthough the magnitude of the difference was not large, VO2max among children with CHD was significantly lower than in normal children. We suggest performing CPET in routine follow-up of these patients.Trial registration numberClinicalTrials.gov NCT01202916; Post-results.

scholarly journals Assessment of Dental Status and Oral Health Status in Children with Congenital Heart Diseases

2019 ◽  
pp. 42-58
Author(s):  
Sreenita Chowdhury ◽  
Binita Srivastava ◽  
Siddhartha Pujari ◽  
Nidhi Gupta ◽  
Rashi Singh ◽  
...  
Keyword(s):  
Rural Areas ◽  
Congenital Heart ◽  
Heart Diseases ◽  
Dental Health ◽  
Oral Health Status ◽  
Permanent Dentition ◽  
Control Group ◽  
Congenital Heart Diseases ◽  
Healthy Children ◽  
Cardiac Group

Purpose: This study aims to identify the dental caries, decayed, missing, and filled teeth index (dmft/DMFT) scores amongst children with cyanotic, and acyanotic congenital heart diseases (CHD), compare with healthy controls and identify the risk factors for poor dental health. Methods: Between January 2016 and June 2017, 236 children aged 2 to 15 years (mean±SD=7.61±3.88 yrs, median 7 yrs) with CHD and 951 healthy children aged 2 to 15 years (mean±SD=8.83±7.34 yrs, median 9 yrs) were evaluated. Results: Children with CHD had more caries in their primary and permanent dentition (mean dmft: 2.42±3.82, cardiac group vs. 2.32±6.68, control group; p<0·05; mean DMFT: 2.15±3.38, cardiac group vs. 1.27±1.89, control group; p=0.002). The DMFT scores for children with CHD were higher in the rural areas. Children frequently consuming biscuits, confectionary and sugared milk had higher dmft±SD scores. The possibility of caries in permanent dentition was more in children with cyanotic CHD compared to acyanotic. Caries in primary dentition showed positive correlation with age. Conclusions: CHD is associated with poorer dental health in children. Close cooperation between pediatric cardiologists and pediatric dentists is warranted to raise awareness, prevent and institute early treatment for dental ailments.

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