Comparing the Genetic Detox Ability and Heavy Metal Burden in a Cohort of Samples of Egyptian Children and those with Autistic Spectrum Disorder

2019 ◽  
Author(s):  
Blaurock-Busch E
Keyword(s):  
Heavy Metal ◽  
Autism Spectrum ◽  
Control Group ◽  
Potentially Toxic Metals ◽  
Gstt1 Null Genotype ◽  
Egyptian Children ◽  
Glutathione S Transferases ◽  
Metal Burden ◽  
Detoxification Pathway

The heavy metal burden of patients with Autism spectrum disorders (ASD) has been widely discussed [1-5]. Present knowledge suggests that ASD patients, compared to ‘normal’s’ show a greater metal burden, which may be a cause of the ASD pathogenesis, possibly due to a limited detoxification potential. We thus aimed to evaluate if the metal burden of ASD children is due to comprised detoxification ability, and if missing of enzymes such as the glutathione-S-transferases provide an explanation, or if additional factors play a role. Genetically, we noticed a slight difference in the detoxification ability of the ASD group compared to the Control group. In the ASD group, carrier of the genotype GSTT1 null genotype (i.e. the homozygous loss) are 1.7 times more common as in the Control group and the GSTT1 allele is more frequent in the ASD patient collective. These findings are not statistically significant but indicate a trend. In addition, our data indicates that levels of potentially toxic metals in blood and hair of both groups demonstrate a similar immediate and long-term exposure. However, 36% of the ASD group showed signs of zinc deficiency compared to 11% of the Control group and this points towards inefficiency of the Phase I detoxification pathway. More research is needed to explore the role of other elements in the detoxification pathway.

Assessment of 25 Hydroxy Cholecalceferol Level in Autistic Children; is there a role for it in Treatment of Autism Spectrum Disorder?

QJM ◽  
2021 ◽  
Vol 114 (Supplement_1) ◽  
Author(s):  
Martina Alfred Youssef Nakhla ◽  
Eman Ahmed Zaky ◽  
Enas Samir Nabeh ◽  
Asmaa Wafeeq Abd El Aziz
Keyword(s):  
Vitamin D ◽  
Serum Vitamin ◽  
Autism Spectrum ◽  
Laboratory Evaluation ◽  
Control Group ◽  
Autistic Children ◽  
Serum Vitamin D ◽  
Group I ◽  
Egyptian Children ◽  
Therapeutic Doses

Abstract Background Autism is a group of neurodevelopmental disabilities with various genetic and environmental risk factors. Vitamin D is an important neurosteroid hormone which can affect brain development and function, but research on its use in treating autism has been limited. Objectives The current study aimed at assessing the level of 25 OH vit D3level in a group of autistic infants and children compared to controls and correlating it with the severity of autistic manifestations and evaluation of the role of therapeutic doses of vitamin D on the severity of autistic manifestations. Methodology Thirty autistic Egyptian children (group I) and 30 clinically healthy age and sex matched controls were enrolled (group II). Therapeutic doses of vitamin D were given for autistic children who showed insufficient levels of 25 OH cholecalceferol for a period of 4-6 weeks followed by maintenance doses for another 6 weeks. Psychometric and laboratory evaluation for this group was done thrice: at the onset of study, at 6 week after enrollment in the study, and at 12 weeks after that enrollment. Results Serum vitamin D level was substantially reduced in patients with ASD in comparison to control group, and on the other hand, 25 (OH) vitamin D level was significantly negatively correlated with ATEC score and Total CARS score. Autistic children who received vitamin D3 treatment had significant improvement of CARS and ATEC scores. Conclusion vitamin D supplementation significantly improved the outcome of enrolled autistic children. It is recommended to follow up our studied sample to check the consolidation of improvement for how long it will be needed.

scholarly journals Role of Glutathione S-transferase Mu 1 and Glutathione S-transferases Theta 1 Polymorphism in the Risk of Developing Type 2 Diabetes Mellitus at Universitas Sumatera Utara Hospital, Medan

2021 ◽  
Vol 9 (A) ◽  
pp. 1240-1244
Author(s):  
Zaimah Z. Tala ◽  
Mutiara Indah Sari
Keyword(s):  
Diabetes Mellitus ◽  
Healthy Control Group ◽  
Control Group ◽  
P Value ◽  
Genotype Distribution ◽  
Gstt1 Null Genotype ◽  
Pcr Products ◽  
Healthy Control ◽  
Glutathione S Transferases

BACKGROUND: Diabetes mellitus is associated with an increased production of reactive oxygen species (ROS) and a reduction in antioxidant defense. Glutathione S-transferases (GSTs) is group of multifunction antioxidant enzyme can be used as important biomarkers for DM..  GSTM1, T1 genes variant polymorphism result in decreased or loss of enzyme activity. AIM: The study aimed to evaluate the role of GSTM1 and GSTT1 gene polymorphism in the risk of developing T2DM. METHODS: GSTM1 and GSTT1 polymorphisms were genotyped in 87 T2DM patients and 87 healthy control group to analyze their association with T2DM susceptibility by using multiplex Polymerase Chain Reaction (PCR). PCR products were electrophoresed using agarose 2%. Odds ratio (OR) with 95% confidence interval (CI) and P value were calculated using SPSS software (version 21.0). RESULTS: The genotype distribution of GSTM1 and GSTT1 were not different between T2DM patients and healthy control group (p = 0.542, OR= 0.780, CI 95%=0.350-1.737 and p=0.879, OR=1.047, CI 95%=0.577-1.903). The genotype distribution of combination of GSTM1 and GSTT1 were also not not different between T2DM patients and healthy control group (p = 0.640, OR= 0.640, CI 95%=0.224-1.83 and p=0.551, OR=0.721, CI 95%=0.245-2.120. CONCLUSION: In summary, this study showed that GSTT1 null, GSTM1 null, the combination of GSTM1 null and GSTT1 null genotype or combination of GSTM1 null and GSTT1 positive (or contrary) did not have any risk of developing T2DM at Universitas Sumatera Utara Hospital, Medan.  

scholarly journals Comparing Levels of Urinary Phthalate Metabolites in Egyptian Children with Autism Spectrum Disorders and Healthy Control Children: Referring to Sources of Phthalate Exposure

2021 ◽  
Vol 9 (B) ◽  
pp. 1640-1646
Author(s):  
Manal Shehata ◽  
Ebtissam Salah ◽  
Mai M. Youssef ◽  
Mones Mahmoud Abu Shady ◽  
Inas El-Alameey ◽  
...  
Keyword(s):  
Solid Phase ◽  
Children With Autism ◽  
Autism Spectrum ◽  
Control Group ◽  
Healthy Children ◽  
Phthalate Metabolites ◽  
Children With Asd ◽  
Phthalate Exposure ◽  
Egyptian Children ◽  
Healthy Control

Background: Evidence supporting environmental risk factors of autism spectrum disorder (ASD) is rising. Phthalates are assumed to contribute to this risk due to their extensive use in daily life as plasticizers and additives in numerous customer products. Phthalates are also accused as a neurotoxic agent affecting brain development. Aim: The main objective of this study is to compare the concentrations of urinary phthalate metabolites as biomarkers of phthalate exposure in children with autism to that of a healthy control group and to compare their exposure to suspected environmental sources of phthalate. Methods: It was a case-control study; conducted over a period of one year. Thirty-eight children with ASD and 99 apparently healthy children comprised the control group, were enrolled in the study. Urinary concentrations of four phthalate metabolites were measured, using a combination of solid phase extraction, high pressure liquid chromatography, and tandem mass spectrometry. Results: Children with ASD comprised 38 children (32 boys and 6 girls), their mean age was 8.95 + 4.17 years. There were significant higher levels of urinary Mono (2ethylhexyl) phthalate (MEHP), mono benzyl, and mono butyl phthalates in cases vs. controls with p value equals (0.006, 0.017 and <0.001) respectively. Regression analysis revealed that male gender and the level of mono butyl are the main predictors of ASD (p<0.001). Conclusion: This study suggested a link between phthalates and ASD with higher urinary levels of phthalate metabolites in children with ASD. These high levels are either due to increased exposure or defective metabolism in children with ASD. The study declined any relationship of the studied sources of phthalate exposure to ASD except the exposure to wall painting with plastic.

scholarly journals GSTT1 Null Genotype Is a Risk Factor for Diabetic Retinopathy in Caucasians with Type 2 Diabetes, whereas GSTM1 Null Genotype Might Confer Protection against Retinopathy

2012 ◽  
Vol 32 (2) ◽  
pp. 93-99 ◽  
Author(s):  
Ines Cilenšek ◽  
Sara Mankoč ◽  
Mojca Globočnik Petrovič ◽  
Daniel Petrovič
Keyword(s):  
Type 2 Diabetes ◽  
Diabetic Retinopathy ◽  
Clinical Signs ◽  
Control Group ◽  
Genotype Distribution ◽  
Gstt1 Null Genotype ◽  
Cross Sectional ◽  
Gstp1 Ile105val ◽  
Glutathione S Transferases

Aim: Substantial data indicate that oxidative stress is involved in the development of diabetic retinopathy (DR). The aim of the present study was to investigate whether the genetic polymorphisms: polymorphic deletions of glutathione S-transferases M1 (GSTM1) and T1 (GSTT1) and Ile105Val of the GSTP1 are associated with DR in Slovenian patients with type 2 diabetes.Methods: In this cross sectional case-control study 604 unrelated Slovene subjects (Caucasians) with type 2 diabetes mellitus were enrolled: 284 patients with DR (cases) and the control group of 320 subjects with type 2 diabetes of more than 10 years’ duration who had no clinical signs of DR. Genotypes were determined by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP).Results: In our study, the deletion of the GSTM1 was found less frequent in cases with DR than in the controls (27.5% versus 44.4%;P< 0.001), whereas the deletion of GSTT1 was found significantly more often in cases than in the controls (49.3% versus 29.7%;P< 0.001). We did not find statistically significant differences in the genotype distribution in GSTP1 (Ile105Val) polymorphism between cases and controls (40.5% versus 46.0%).Conclusions: We may conclude that individuals homozygous for the deletion of GSTT1 are at an ≈ 2-fold-greater risk of DR, whereas the GSTM1 deficiency is associated with lower frequency of DR in type 2 diabetics.

scholarly journals Direct modulation of aberrant brain network connectivity through real-time NeuroFeedback

eLife ◽  
2017 ◽  
Vol 6 ◽  
Author(s):  
Michal Ramot ◽  
Sara Kimmich ◽  
Javier Gonzalez-Castillo ◽  
Vinai Roopchansingh ◽  
Haroon Popal ◽  
...  
Keyword(s):  
Real Time ◽  
Resting State ◽  
Network Connectivity ◽  
Autism Spectrum ◽  
Brain Network ◽  
Control Group ◽  
Connectivity Patterns ◽  
Brain Network Connectivity ◽  
Resting State Connectivity

The existence of abnormal connectivity patterns between resting state networks in neuropsychiatric disorders, including Autism Spectrum Disorder (ASD), has been well established. Traditional treatment methods in ASD are limited, and do not address the aberrant network structure. Using real-time fMRI neurofeedback, we directly trained three brain nodes in participants with ASD, in which the aberrant connectivity has been shown to correlate with symptom severity. Desired network connectivity patterns were reinforced in real-time, without participants’ awareness of the training taking place. This training regimen produced large, significant long-term changes in correlations at the network level, and whole brain analysis revealed that the greatest changes were focused on the areas being trained. These changes were not found in the control group. Moreover, changes in ASD resting state connectivity following the training were correlated to changes in behavior, suggesting that neurofeedback can be used to directly alter complex, clinically relevant network connectivity patterns.

Disregulatory shifts in the red blood system during prolonged intoxication with copperzinc-pyrite ore (experimental study)

2021 ◽  
Vol 61 (4) ◽  
pp. 224-230
Author(s):  
Klara R. Ziyakaeva ◽  
Aliya F. Kayumova ◽  
Valentina G. Shamratova
Keyword(s):  
Heavy Metal ◽  
Bone Marrow ◽  
Peripheral Blood ◽  
Zinc Powder ◽  
Blood System ◽  
Male Rats ◽  
Control Group ◽  
Metal Compounds ◽  
Copper Zinc

Introduction. Heavy metal compounds of copper-zinc pyrite ores can negatively affect the blood-forming and composition of peripheral blood of workers at mining and milling industry. Studying of the mechanisms of the development of metal-induced anemia will help in the search of ways to correct disorders in the red blood system. The study aims to estimate the mechanism of functional disorders of the central and peripheral parts of erythron in the long-term intoxication of natural heavy metal compounds in the experiment. Material and methods. The work was carried out on 50 white non-linear male rats weighing 220,5±15,5 g. Sample of the studied ore was provided by Uchalinsky Mining and Refining Plant (Uchaly, Bashkortostan Republic, Russia). The rats were given a water suspension of copper-zinc powder daily for 90 days for 1 hour before feeding, the dose was calculated on the basis of the maximum allowable concentration of lead (0,2-0,5 mg/kg) and cadmium (0,02-0,1 mg/kg) in grain and bread. The number of red blood cells, reticulocytes, hemoglobin and the concentration of erythropoietin were determined in the peripheral blood. Bone marrow erythropoiesis was evaluated by the quantitative and qualitative composition of erythroblastic islets (EI) and indicators of proliferation and maturation of erythroblasts in the EI. Statistical analysis was conducted using Mann-Whitney's non-parametric methods and Pearson's paired correlation. Results. On the 10th day young EI completely disappeared in the bone marrow, and erythropoiesis was supported only by reconstruction. In the peripheral blood the number of erythropoietin decreased by 22%, the number of reticulocytes doubled. The number of mature EI in the bone marrow was doubled by 30 days. By 90 days the number of reticulocytes in the blood returned to normal, but in the bone marrow the content of young forms of EI was 5 times less than the control values. Correlational analysis showed the absence of direct links between the central and peripheral parts of erythron in animals with chronic intoxication of copper-zinc pyrite ore, that present in the control group. Conclusion. With long-term combined exposure with heavy metals of natural origin, regulatory processes in the red blood system are disrupted, that is accompanied with inhibition of erythropoiesis in the EI.

scholarly journals Glutathione S-transferase M1-T1 null genotypes and susceptibility to Hodgkin’s lymphoma

Genetika ◽  
2017 ◽  
Vol 49 (3) ◽  
pp. 911-920 ◽  
Author(s):  
Amin Moosavi ◽  
Yazdi Forat ◽  
Tezerjani Dehghan ◽  
Mohammad Sheikhha ◽  
Seyed Hoseini ◽  
...  
Keyword(s):  
Positive Association ◽  
Iranian Population ◽  
Control Group ◽  
Gstm1 Null Genotype ◽  
Glutathione S Transferase ◽  
Gstt1 Null Genotype ◽  
Glutathione S Transferases ◽  
Risk Of Disease ◽  
Pcr Method ◽  
Control Study

Hodgkin?s Lymphoma (HL) is a heterogeneous malignant disease of lymph node. The glutathione S-transferases (GSTs) have an important role in the detoxification of a wide variety of toxins and carcinogens. Studies have been indicated that genetic variation in the GST gene family may lead to susceptibility in HL. Hereby, we investigated the association of GSTT1 and GSTM1 null genotypes with HL in the Iranian population. This case-control study consisted of 76 patients suffering from HL and 120 healthy individuals as a control group. Genomic DNA was extracted and genotyping of GSTT1 and GSTM1 genes for the identification of their null genotypes was carried out using multiplex PCR method. Our findings indicated that GSTM1 null genotype is associated with risk of developing HL in our population (P=0.025; OR=2.00; 95%CI=1.110- 3.602); however, no association was found for GSTT1 null genotype. Our study also showed that the GSTM1 null genotype increased the risk of disease in the individuals younger than 45 years, and it had a positive association with low ESR. GSTM1 null genotype may have the key role in increasing the risk of HL in the Iranian population.

The response of skin perfusion and of rheological and immunological variables to intravenous prostanoid administration in Raynaud’s phenomenon secondary to collagenosis

VASA ◽  
2005 ◽  
Vol 34 (4) ◽  
pp. 243-249 ◽  
Author(s):  
Drinda ◽  
Neumann ◽  
Pöhlmann ◽  
Vogelsang ◽  
Stein ◽  
...  
Keyword(s):  
Laser Doppler Flowmetry ◽  
Raynaud’S Phenomenon ◽  
Raynaud's Phenomenon ◽  
Plasma Viscosity ◽  
Laser Doppler ◽  
Erythrocyte Aggregation ◽  
Control Group ◽  
Long Term Effects ◽  
Doppler Flowmetry

Background: Prostanoids are used in the treatment of Raynaud’s phenomenon and acral perfusion disorders secondary to collagenosis. In subjective terms, intravenous administration of these agents produces success in more than 50% of patients. The therapeutic outcome of clinical administration of alprostadil or iloprost may vary from individual to individual. Patients and methods: The following variables were analysed in a cross-over study in 27 patients with collagenosis and Raynaud’s phenomenon: plasma viscosity and erythrocyte aggregation (rheological variables), partial pressure of oxygen and laser Doppler flowmetry in the finger region, and lymphocyte phenotyping and interleukin (IL) determinations (immunological variables). Results: Laser Doppler flowmetry revealed significant differences between patients with secondary Raynaud’s phenomenon and a control group of 25 healthy subjects. Laser Doppler readings did not change significantly as a result of the treatments. Therapy with iloprost produced a reduction in IL-1beta, L-selectin (CD 62 L) and IL-6. Conclusion: The change in immunological variables due to iloprost may explain the long-term effects of prostaglandins in the treatment of Raynaud’s phenomenon. From our results it is not possible to infer any preference for iloprost or alprostadil.

Acute and Chronic Changes in Platelet Volume and Count After Cardiopulmonary Bypass Induced Thrombocytopenia in Man

1987 ◽  
Vol 57 (01) ◽  
pp. 55-58 ◽  
Author(s):  
J F Martin ◽  
T D Daniel ◽  
E A Trowbridge
Keyword(s):  
Platelet Count ◽  
Mean Platelet Volume ◽  
Artery Bypass ◽  
Bypass Graft ◽  
Control Group ◽  
Artery Bypass Graft ◽  
Platelet Volume ◽  
Young Males ◽  
The Mean

SummaryPatients undergoing surgery for coronary artery bypass graft or heart valve replacement had their platelet count and mean volume measured pre-operatively, immediately post-operatively and serially for up to 48 days after the surgical procedure. The mean pre-operative platelet count of 1.95 ± 0.11 × 1011/1 (n = 26) fell significantly to 1.35 ± 0.09 × 1011/1 immediately post-operatively (p <0.001) (n = 22), without a significant alteration in the mean platelet volume. The average platelet count rose to a maximum of 5.07 ± 0.66 × 1011/1 between days 14 and 17 after surgery while the average mean platelet volume fell from preparative and post-operative values of 7.25 ± 0.14 and 7.20 ± 0.14 fl respectively to a minimum of 6.16 ± 0.16 fl by day 20. Seven patients were followed for 32 days or longer after the operation. By this time they had achieved steady state thrombopoiesis and their average platelet count was 2.44 ± 0.33 × 1011/1, significantly higher than the pre-operative value (p <0.05), while their average mean platelet volume was 6.63 ± 0.21 fl, significantly lower than before surgery (p <0.001). The pre-operative values for the platelet volume and counts of these patients were significantly different from a control group of 32 young males, while the chronic post-operative values were not. These long term changes in platelet volume and count may reflect changes in the thrombopoietic control system secondary to the corrective surgery.

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