scholarly journals THE RELATIONSHIP BETWEEN THE FREQUENCY OF CONGENITAL MALFORMATIONS IN NEWBORNS OF WOMEN RESIDING IN AN INDUSTRIAL REGION WITH THE POLYMORPHISM OF THE GENES OF THE BIOTRANSFORMATION SYSTEM

2018 ◽  
Vol 97 (7) ◽  
pp. 585-590
Author(s):  
Olga N. Gulyaeva ◽  
A. S. Kazitskaya ◽  
M. V. Alekseeva ◽  
L. V. Renge ◽  
A. G. Zhukova

Introduction. There is a number of polymorphic genes, the products of which take part in the biotransformation process and possess of the different activity. As a result of an imbalance in the processes of xenobiotic biotransformation, there is occurred an accumulation of toxic electrophilic compounds, the rise in a mutagenic activity, that can be very important in the formation of congenital malformations. Therefore, the study of the association of gene polymorphisms of the first and second phases of biotransformation with various congenital malformations is topical. The aim of the study. To investigate the role of the polymorphism of genes of the xenobiotic biotransformation system (CYP1A2*1F, GSTT1, GSTM1) encoding the enzymes I and II detoxification phases in women with the complicated obstetric history, residing in an industrial region. Material and methods. A survey of 53 women of reproductive age living in the territory of Novokuznetsk was carried out. The comparison group (the control) consisted of 27 women. These women did not have spontaneous miscarriages, and they carried the fetus to term without congenital malformations. The study group included 26 women who gave birth to babies with congenital malformations. Genomic DNA was isolated by the phenol-chloroform extraction method followed by the ethanol precipitation. The molecular and genetic analysis of the gene polymorphism of cytochrome 1A2 (CYP1A2), glutathione S-transferase τ-1 (GSTT1) and glutathione S-transferase μ-1 (GSTM1) was carried out using Real-Time mode. Results. A high risk of congenital fetal malformations in women with the A/A CYP1A2*1F genotype and resistance to these pathologies in the presence of a heterozygous form of the gene C/A CYP1A2*1F was revealed. The relationship between the high risk of stillbirth due to the placental insufficiency in women with deletion polymorphism of the gene GSTM1 “-”, while the normal functioning gene GSTM1 “+” was associated with the resistance to antenatal fetal death.

2021 ◽  
Vol 100 (7) ◽  
pp. 658-662
Author(s):  
Olga N. Gulyaeva ◽  
Anna G. Zhukova ◽  
Anastasiya S. Kazitskaya ◽  
Faina A. Luzina ◽  
Marina V. Alekseeva ◽  
...  

Introduction. According to epidemiological observations, the level of congenital malformations in children is associated with the degree of chemical pollution of the environment and certain forms of genes of the I and II phases of the xenobiotic biotransformation system. The study aimed to determine and compare the index of anthropogenic load with the probability of occurrence of congenital malformations of the fetus in combination with gene polymorphisms of I and II phases of the xenobiotic biotransformation system in women living in different administrative territories in the South of Kuzbass. Material and methods. The level of air pollution in the cities of the South of the Kemerovo region (Kuzbass) was established. Prenatal screening of 1,426 pregnant women at the term of 15-18 weeks in the cities of the South of Kuzbass was carried out. The Real Time-PCR method was used to determine the gene polymorphism of the xenobiotic biotransformation system (CYP1A2, GSTM1) in 53 women of Novokuznetsk who gave birth to newborns with congenital malformations. Results. In the cities of the South of Kuzbass, with a critical and high degree of pollution of atmospheric air and waterways, many women are at risk of congenital malformations in offsprings. The A/A CYP1A2*1F genotype in combination with the deletion polymorphism of the GSTM1 gene in the mother is reliably associated with the occurrence of congenital malformations in offsprings (χ2 - 4.72; р - 0.030; OR - 5.56; CI - 1.05-29.32), and the C/ACYP1A2*1F genotype in combination with the normal functioning GSTM1 “+” gene is associated with resistance to the development of congenital malformations (χ2 - 12.53; p - <0.001; OR - 0.11; CI - 0.03-0.4 ). Conclusion. Against the background of an increasingly unfavourable ecological situation in Kuzbass and raising the number of newborns with congenital malformations, it is essential to include in the algorithm for early prenatal diagnosis the determination of the forms of genes of different phases of the xenobiotic metabolism system to elaborate an algorithm for reducing the xenobiotic load on the body of pregnant women during critical periods of fetal organogenesis.


2017 ◽  
Vol 23 (2) ◽  
Author(s):  
V Mischenko ◽  
I Rudenko ◽  
M Holubenko ◽  
A Lavrinenko ◽  
K Tumasian

The frequency and severity of congenital malformations (CMF) do not tend to decline in modern society. CMF for etiologic factors are referred to the pathologies of a multifactorial nature. Among the many causative factors of CMF there is a hereditary predisposition.         The objective of the study was to increase the effectiveness of complex individualized prophylaxis of congenital malformations in women with polymorphic alleles of genes of folate cycle enzymes, the second phase of the detoxification system through the use of diagnostic, preventive, and therapeutic measures.         Materials and methods. 120 women of reproductive age who live in the city of Odessa and the Odessa region were examined. The alleles of the genes of the folate cycle enzymes of methylenetetrahydrofolate reductase (MTHFR), 5-methyltetrahydrofolate homocysteine methyltransferase reductase (MTRR), glutathione-S-transferase M1 (GSTM1), folate acid, cyanocobalamin were determined.         Results of the study and their discussion. The determination of the polymorphic alleles of the genes of the folate cycle enzymes of methylenetetrahydrofolate reductase (MTHFR), 5-methyltetrahydrofolate homocysteine methyltransferase reductase (MTRR), glutathione-S-transferase M1 (GSTM1), low folate, cyanocobalamin indicates the presence of a hereditary predisposition to the emergence of CMF, before and during pregnancy. Polymorphism of genes that control the synthesis of GSTM1 may alter the activity of detoxification enzymes. Expression of genes of GSTM1 enzymes begins in the embryonic period. Glutathione-dependent detoxification plays a key role in disinfecting of DNA peroxides. Mistakes of metabolism, functions of the corresponding enzymes are realized by chromosomal abnormalities and the risk of the occurrence of CMF, which requires the use of antioxidant therapy before and during pregnancy.         Conclusions. It was found that a high (about 55%) frequency of the polymorphic alleles of the genes of folate cycle enzymes MTHFR (homozygous – 10.0%, heterozygous – 16.7%), 5 MTRR (homozygous 12.5%, heterozygous – 15.5%) , the second phase of the GSTM1 detoxification system (homozygous – 13.3%, heterozygous – 15.8%), the content below the reference values of folic acid in 26.7%, cyanocobalamin – in 63.4% of observations indicates a hereditary predisposition and may contribute the emergence of CMF, which explains the expediency of timely use of preventive measures including folates, antioxidants.


Author(s):  
Olga N. Gulyaeva ◽  
Anastasiya S. Kazitskaya ◽  
Olga A. Zagorodnikova ◽  
Lyudmila V. Renge ◽  
Anna G. Zhukova

Intrauterine growth retardation is recognized as one of the leading causes of incidence and mortality in infancy and early childhood in all the countries of the world. The causes and mechanisms of development of this process are decisive when choosing the tactics of nursing such children. Of particular importance is the understanding of the functioning of the mother-placenta-fetus system, in particular the mechanisms of suppression of the detoxification function of the placenta in connection with the polymorphisms of the genes of the I and II phases of the xenobiotic biotransformation system. The aim of the study was to determine the relationship between the polymorphism of the genes of the I and II phases of the xenobiotic biotransformation system with the intrauterine fetal growth retardation in women living in the South of the Kemerovo region and working under harmful labor conditions. A survey of 39 women of reproductive age living in the territory of Novokuznetsk was carried out, 20 of them worked at various enterprises of the city. The study group included 14 women who gave birth to children with intrauterine growth retardation of varying severity. The comparison group (control) consisted of 25 women. They did not have spontaneous miscarriages and they carried a child without the intrauterine growth retardation. The work investigated the frequency of occurrence of polymorphisms of genes of the xenobiotic biotransformation system - CYP1A2*1F, GSTM1 (they determine the activity of detoxification enzymes), as well as their combinations - in a group of working women and housewives who gave birth to children with intrauterine growth retardation. The forms of genes associated with the intrauterine fetal growth retardation, as well as genes associated with the resistance to this pathology, were identified. Combinations of gene forms of different phases of the xenobiotic biotransformation and their relationship with intrauterine fetal growth retardation were shown. There were no statistically reliable differences between various cohorts of women. A positive association of a high risk of the intrauterine fetal growth retardation in women with A/A CYP1A2*1F genotype and deletion polymorphism of the GSTM1 "-" gene has been shown. The heterozygous form of the C/A CYP1A2*1F gene polymorphism is statistically reliably associated with the resistance to this pathology, as well as the normally functioning GSTM1 "+" gene. Genotype A/A CYP1A2*1F in the combination with the deletion polymorphism of GSTM1 "-" gene is statistically reliably associated with intrauterine fetal growth retardation, and C/A CYP1A2*1F genotype in the combination with normally functioning GSTM1 "+" gene is associated with a low risk of the intrauterine fetal growth retardation. Comparative analysis of the relationship of the studied forms of genes of the xenobiotic biotransformation system with the intrauterine fetal growth retardation in the groups of female workers and housewives did not show statistically reliable differences.


Author(s):  
Ani Media Harumi ◽  
Kasiati Kasiati

Abstract: The purpose of this study is to analyze the relationship of age high risk with the incidence ofbleeding post partum in dr. M. Soewandhie Surabaya hospital. This research is analytic with an approachof a sectional cross. The study population was all post partum mothers in the Dr. M. Soewandhie Surabayahospital in January 2016 to March 2017, which amounts to an average of 1840respondents while theresearch sample number 182. Measuring collection sheet data obtained by systematic random sampling.The Study was conducted Chi-Square test obtained mean count X2 (0,00) is less than á (0.05) thenH0 is rejected and H1 accepted it means that there is a relationship between the age of high risk withbleeding post partum. Conclusion, there is a relationship between the age of high risk with the incidenceof bleeding post partum in the Spaceof the Maternity room Dr. Moch. Soewandhie Surabayahospital.


2020 ◽  
Vol 4 (Supplement_1) ◽  
pp. 331-332
Author(s):  
Jacqueline Guzman ◽  
Yuliana Soto ◽  
David Marquez ◽  
Susan Aguinaga

Abstract Latinos have high risk of Alzheimer’s disease and related dementias (ADRD). Self-rated health (SRH) has been used to predict cognitive decline. Early detection of executive function changes may help identify those at higher risk of cognitive decline. The purpose of this study was to examine the relationship between SRH and executive function in Latinos. Latinos (N=333, 84.4% female, Mage= 64.9 ± 7.08) from the BAILA randomized controlled trial self-rated their health as 1) poor/fair, 2) good, and 3) very good/excellent. Executive function was assessed by the Trail-making B, Verbal Fluency, Stroop C & CW, and the Digit Modality tests and stratified by SRH. One-way analysis of variance showed that the effect of SRH was significant for Trails B, F(2,298)=4.01, p=.019 and Stroop CW, F(2,298)=3.07, p=.048. Tukey’s test indicated that participants who rated their health as fair/poor took longer to complete Trails B (M=196.78±83.0 seconds) compared to those who rated their health as good (M=185.25 ± 85.1 seconds) and very good/excellent (M=149.25±95.3 seconds). Stroop CW results demonstrated that those in the fair/poor health category scored lower (M=17.22±6.6) than those in good (M=19.70±8.5 words/minutes) and very good/excellent health categories (M=18.73±8.2 words/minute). In sum, the results suggest SRH is related to executive function such that lower categories of SRH are indicative of poorer executive function. SRH might be used as a proxy for executive function and as a tool that community leaders can use to identify individuals at high risk of ADRD in need of behavioral interventions.


2020 ◽  
Vol 0 (0) ◽  
Author(s):  
Diksha Sirohi ◽  
Ruqaiya Al Ramadhani ◽  
Luke D. Knibbs

AbstractPurposeEndocrine-related diseases and disorders are on the rise globally. Synthetically produced environmental chemicals (endocrine-disrupting chemicals (EDCs)) mimic hormones like oestrogen and alter signalling pathways. Endometriosis is an oestrogen-dependent condition, affecting 10–15% of women of the reproductive age, and has substantial impacts on the quality of life. The aetiology of endometriosis is believed to be multifactorial, ranging from genetic causes to immunologic dysfunction due to environmental exposure to EDCs. Hence, we undertook a systematic review and investigated the epidemiological evidence for an association between EDCs and the development of endometriosis. We also aimed to assess studies on the relationship between body concentration of EDCs and the severity of endometriosis.MethodFollowing PRISMA guidelines, a structured search of PubMed, Embase and Scopus was conducted (to July 2018). The included studies analysed the association between one or more EDCs and the prevalence of endometriosis. The types of EDCs, association and outcome, participant characteristics and confounding variables were extracted and analysed. Quality assessment was performed using standard criteria.ResultsIn total, 29 studies were included. Phthalate esters were positively associated with the prevalence of endometriosis. The majority (71%) of studies revealed a significant association between bisphenol A, organochlorinated environmental pollutants (dioxins, dioxin-like compounds, organochlorinated pesticides, polychlorinated biphenyls) and the prevalence of endometriosis. A positive association between copper, chromium and prevalence of endometriosis was demonstrated in one study only. Cadmium, lead and mercury were not associated with the prevalence of endometriosis. There were conflicting results for the association between nickel and endometriosis. The relationship of EDCs and severity of endometriosis was not established in the studies.ConclusionWe found some evidence to suggest an association between phthalate esters, bisphenol A, organochlorinated environmental pollutants and the prevalence of endometriosis. Disentangling these exposures from various other factors that affect endometriosis is complex, but an important topic for further research.


2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Minjae Yoon ◽  
Jaewon Oh ◽  
Kyeong-Hyeon Chun ◽  
Chan Joo Lee ◽  
Seok-Min Kang

AbstractImmunosuppressive therapy can decrease rejection episodes and increase the risk of severe and fatal infections in heart transplantation (HT) recipients. Immunosuppressive therapy can also decrease the absolute lymphocyte count (ALC), but the relationship between early post-transplant ALC and early cytomegalovirus (CMV) infection is largely unknown, especially in HT. We retrospectively analyzed 58 HT recipients who tested positive for CMV IgG antibody and received basiliximab induction therapy. We collected preoperative and 2-month postoperative data on ALC and CMV load. The CMV load > 1200 IU/mL was used as the cutoff value to define early CMV infection. Post-transplant lymphopenia was defined as an ALC of < 500 cells/μL at postoperative day (POD) #7. On POD #7, 29 (50.0%) patients had post-transplant lymphopenia and 29 (50.0%) patients did not. The incidence of CMV infection within 1 or 2 months of HT was higher in the post-transplant lymphopenia group than in the non-lymphopenia group (82.8% vs. 48.3%, P = 0.013; 89.7% vs. 65.5%, P = 0.028, respectively). ALC < 500 cells/μL on POD #7 was an independent risk factor for early CMV infection within 1 month of HT (odds ratio, 4.14; 95% confidence interval, 1.16–14.77; P = 0.029). A low ALC after HT was associated with a high risk of early CMV infection. Post-transplant ALC monitoring is simple and inexpensive and can help identify patients at high risk of early CMV infection.


2021 ◽  
pp. 0044118X2110028
Author(s):  
Heather Mary Quinlan ◽  
Kellie Lynn Hadden ◽  
David Paul Storey

The purpose of the current study was to explore whether selfcompassion predicted psychological distress over and above childhood maltreatment and attachment orientation in high-risk youths. Fifty-one youths (31 males, 20 females) aged 17 to 24, recruited from a community non-profit organization in St. John’s, Newfoundland and Labrador, Canada, were administered validated measures of childhood maltreatment, attachment orientation, self-compassion, and psychological distress. Results indicated that self-compassion was inversely associated with childhood maltreatment, attachment anxiety, attachment avoidance, and psychological distress. However, results did not support the hypothesis that self-compassion was a significant predictor of psychological distress over and above attachment anxiety and childhood maltreatment in high-risk youths. Our results indicated that self-compassion is not well developed in street-involved youths and may be a vital intervention target to heal negative internalized views of the self, while maintaining vigilance to threats inherent in the street environment.


Author(s):  
Gemma Modinos ◽  
Anja Richter ◽  
Alice Egerton ◽  
Ilaria Bonoldi ◽  
Matilda Azis ◽  
...  

AbstractPreclinical models propose that increased hippocampal activity drives subcortical dopaminergic dysfunction and leads to psychosis-like symptoms and behaviors. Here, we used multimodal neuroimaging to examine the relationship between hippocampal regional cerebral blood flow (rCBF) and striatal dopamine synthesis capacity in people at clinical high risk (CHR) for psychosis and investigated its association with subsequent clinical and functional outcomes. Ninety-five participants (67 CHR and 28 healthy controls) underwent arterial spin labeling MRI and 18F-DOPA PET imaging at baseline. CHR participants were followed up for a median of 15 months to determine functional outcomes with the global assessment of function (GAF) scale and clinical outcomes using the comprehensive assessment of at-risk mental states (CAARMS). CHR participants with poor functional outcomes (follow-up GAF < 65, n = 25) showed higher rCBF in the right hippocampus compared to CHRs with good functional outcomes (GAF ≥ 65, n = 25) (pfwe = 0.026). The relationship between rCBF in this right hippocampal region and striatal dopamine synthesis capacity was also significantly different between groups (pfwe = 0.035); the association was negative in CHR with poor outcomes (pfwe = 0.012), but non-significant in CHR with good outcomes. Furthermore, the correlation between right hippocampal rCBF and striatal dopamine function predicted a longitudinal increase in the severity of positive psychotic symptoms within the total CHR group (p = 0.041). There were no differences in rCBF, dopamine, or their associations in the total CHR group relative to controls. These findings indicate that altered interactions between the hippocampus and the subcortical dopamine system are implicated in the pathophysiology of adverse outcomes in the CHR state.


2021 ◽  
pp. 1-26
Author(s):  
David A. Wiss ◽  
Marjan Javanbakht ◽  
Michael J. Li ◽  
Michael Prelip ◽  
Robert Bolan ◽  
...  

Abstract Objective: To understand the relationship between drug use, food insecurity (FI), and mental health among men who have sex with men (MSM). Design: Cohort study (2014-2019) with at least one follow-up. Setting: Visits at 6-month intervals included self-assessment for FI and depressive symptoms. Urine testing results confirmed drug use. Factors associated with FI were assessed using multiple logistic regression with random effects for repeated measures. General structural equation modeling tested whether FI mediates the relationship between drug use and depressive symptoms. Participants: Data were from HIV-positive and high-risk HIV negative MSM in Los Angeles, CA (n=431; 1,192 visits). Results: At baseline, FI was reported by 50.8% of participants, depressive symptoms in 36.7%, and 52.7% of urine screening tests were positive for drugs (i.e., marijuana, opioids, methamphetamine, cocaine, ecstasy). A positive drug test was associated with a 96% increase in the odds of being food insecure (95% CI: 1.26-3.07). Compared to those with high food security, individuals with very low food security have a nearly 7-fold increase in the odds of reporting depressive symptoms (95% CI: 3.71-11.92). Findings showed 14.9% of the association between drug use (exposure) and depressive symptoms (outcome) can be explained by FI (mediator). Conclusion: The prevalence of FI among this cohort of HIV-positive and high-risk HIV-negative MSM was high; the association between drug use and depressive symptoms was partially mediated by FI. Findings suggest that enhancing access to food and nutrition may improve mood in the context of drug use, especially among MSM at risk for HIV-transmission.


Sign in / Sign up

Export Citation Format

Share Document