scholarly journals Is there a correlation between GAD2 gene-243 A>G polymorphism and obesity?

2019 ◽  
Vol 27 (4) ◽  
pp. 413-420
Author(s):  
Camelia Alkhzouz ◽  
Diana Miclea ◽  
Marius Farcas ◽  
Simona Bucerzan ◽  
Georgiana Cabau ◽  
...  

Abstract Introduction: GAD2 gene encodes the glutamate decarboxylase enzyme which catalyses the transformation of glutamate into γ-aminobutyric acid, GABA. It is suggested that some polymorphic alleles of GAD2 gene, such as -243A>G, have an increased transcriptional effect compared with the wild type, which results in an increase of GABA in the hypothalamus with the subsequent increase of the neuropeptide Y, thus exacerbating the hunger centre and the appetite. The aim of this study was to observe an association between the -243A>G polymorphism with obesity, comparatively studying a group of obese patients and a group of patients with normal weight. Patients and method: 127 patients were clinically evaluated in the Genetic and Endocrine Department of Children’s Emergency Clinical Hospital, Cluj. The patients were included in two study groups, case group, with obesity (BMI higher than 97 kg/m2) and control group, with normal weight (BMI less than 97 kg/m2). Genotyping for GAD2-243A>G polymorphism was performed using PCR-RFLP technique, the two groups being compared regarding the genotypes and phenotypes. Results and conclusions: In the obesity group, there is a statistically significant difference in BMI (kg/m2) between the subgroups with different genotypes (p=0.01), the AA genotype being less severely affected than AG and GG genotypes. In the normal weight group there is no association between BMI and different genotypes (AA, AG or GG). Also, there is a greater distribution of GG genotypes and G allele in the obesity group compared with the control group, with an odds ratio which suggest that -243A>G polymorphism is a risk factor in obesity development (GG genotype OR=3.76, G allele OR=1.73, p=0.04). The finding of our study is important in explaining the multifactorial model of obesity, our research demonstrating that the GAD2-243 A> G variant could be a risk factor that added to other obesogenic factors would potentiate their effect.

2017 ◽  
Vol 5 (4) ◽  
pp. 24
Author(s):  
Farzad Kakaei ◽  
Peyman Virani ◽  
Shahriar Hashemzadeh ◽  
Sina Zarrintan ◽  
Samad Beheshtirouy ◽  
...  

Extensive hemorrhage is a significant cause of mortality in trauma patients. Tranexamic acid has been used for controlling bleeding in cardiovascular surgeries and dental manipulations in patients with hemophilia. However, in traumatic patients with bleeding, its use dates back to more recent years. This study aims to examine the effects of this drug on reducing mortality and blood transfusion rate in trauma patients with significant hemorrhage. A total of 60 patients with significant trauma-related hemorrhage (systolic blood pressure < 90 mmHg/heart rate > 110/min) from the emergency department of Imam Reza Hospital (Tabriz, Iran), were randomized in two groups. The case group received intravenous Tranexamic acid (1 g in 10 min and then 1 g over 8 h). The control group received placebo. Rate of transfusion and rate of one-month mortality were compared between the study groups. The mean ICU stay and overall hospitalization times did not have significant difference between two groups (p<0.05). Transfusion of packed cells was 6.03±1.50 and 6.03±1.22 units in case and control groups respectively. Transfusion of fresh frozen plasma (FFP) was 2.50±1.36 and 3.03±0.96 units in case and control groups respectively (p=0.09). Transfusion of platelets was 0.40±0.20 1.33±0.31 units in case and control groups respectively (p=0.01). Three patients (10%) in the case group and 4 patients (13.3%) in the control group were expired (p=0.50). Tranexamic acid is safe and effective in reducing platelet transfusion rate in patients with trauma-related significant hemorrhage. However, transfusion need and mortality would not reduce by its use in trauma patients. 


Author(s):  
Simone Seixas da Cruz ◽  
Isaac Suzart ◽  
Johelle De Santana Passos-Soares ◽  
Luise Maria Souza ◽  
Ana Claudia Morais Godoy Figueiredo ◽  
...  

Objective: to investigate the association between maternal hypertension and low birth weight, in a public hospital in Petrolina, Pernambuco, Brazil. Methods: A case-control study was conducted on 317 individuals, such that the case group was composed of 87 mothers of children born with a weight of less than 2500 g and/or gestational age less than 37 weeks, and the control group was composed of 230 mothers of newborns of weight greater than or equal to 2500 g and gestational age greater than or equal to 37 weeks. Descriptive analysis and logistic regression were applied to the data gathered. Results: The results showed a statistically significant difference in maternal age between the study groups. The use of medications and number of prenatal consultations were also shown to be associated with low birth weight. After appropriate adjustments, the association between maternal hypertension and low birth weight was demonstrated to be strong and statistically significant (OR = 3.84; 95% CI: 1.92 – 7.68). Conclusions: The findings indicate that maternal hypertension is a possible risk factor for low birth weight.


Author(s):  
Byamukama Topher ◽  
Keraka M. Margaret ◽  
Gitonga Eliphas

Background: Immunization is one of the most cost-effective public health interventions to reduce child mortality and morbidity associated with infectious diseases. The objective of this study was to determine the perceptions of caregivers on immunization in Ntungamo district.Methods: Quasi-experimental study was used with health centres assigned to intervention and control groups. Purposive sampling was used to select the two counties where the study was done. Proportional sampling was done to get study samples from each health facility, while systematic sampling was done to get study participants. A total of 787 children from twelve health facilities provided the study sample. A post intervention evaluation was conducted to determine the effect of these interventions. Association of variables was tested using Mann Whitney U-test and Chi-square.Results: On benefits, most caregivers in the intervention group (85.3%) and in the control group (54.3%) regarded immunization as very highly and moderately beneficial to their children respectively. On risks, most caregivers in the intervention group (85.5%) and control group (43.1%) regarded the risk factor associated with immunization as very low and moderate respectively. From hypothesis testing, there was a significant difference on the perceived benefits and risks of immunization between the intervention and control group.Conclusions: Most caregivers in the intervention and control group regarded immunization as very highly beneficial and moderately to their children respectively. Most of the caregivers in the intervention and control group regarded the risk factor associated with immunization as very low and moderate respectively. 


2020 ◽  
Vol 13 (1) ◽  
Author(s):  
Xiaodong Li ◽  
Shufang Bu ◽  
Ran Ran Pan ◽  
Cong Zhou ◽  
Kun Qu ◽  
...  

Abstract Background The goal of our study is to investigate whether the methylation levels of AHCY and CBS promoters are related to the risk of cerebral infarction by detecting the methylation level of AHCY and CBS genes. Methods We extracted peripheral venous blood from 152 patients with cerebral infarction and 152 gender- and age-matched healthy controls, and determined methylation levels of AHCY and CBS promoters using quantitative methylation-specific polymerase chain reaction. We used the percentage of methylation reference (PMR) to indicate gene methylation level. Results We compared the promoter methylation levels of two genes (AHCY and CBS) in peripheral blood DNA between the cerebral infarction case group and the control group. Our study showed no significant difference in AHCY promoter methylation between case and control. Subgroup analysis by gender showed that the methylation level of AHCY in males in the case group was lower than that in the control group, but the difference was not statistically significant in females. In a subgroup analysis by age, there was no significant difference in the AHCY methylation level between the case and control in the young group (≤44 years old). However, the level of AHCY gene methylation in the middle-aged group (45–59 years old) was significantly higher and the aged group (≥60 years old) was significantly lower than that in the control groups. However, CBS promoter methylation levels were significantly lower in the case group than in the control group (median PMR: 70.20% vs 104.10%, P = 3.71E-10). In addition, the CBS methylation levels of males and females in the case group were significantly lower than those in the control group (male: 64.33% vs 105%, P = 2.667E-08; female: 78.05% vs 102.8%, P = 0.003). We also found that the CBS levels in the young (23–44), middle-aged (45–59), and older (60–90) groups were significantly lower than those in the control group (young group: 69.97% vs 114.71%; P = 0.015; middle-aged group: 56.04% vs 91.71%; P = 6.744E-06; older group: 81.6% vs 119.35%; P = 2.644E-04). Our ROC curve analysis of CBS hypomethylation showed an area under the curve of 0.713, a sensitivity of 67.4%, and a specificity of 74.0%. Conclusion Our study suggests that hypomethylation of the CBS promoter may be closely related to the risk of cerebral infarction and may be used as a non-invasive diagnostic biomarker for cerebral infarction.


2010 ◽  
Vol 2010 ◽  
pp. 1-7 ◽  
Author(s):  
Laure Dix ◽  
Matthias Roth-Kleiner ◽  
Maria-Chiara Osterheld

Necrotizing enterocolitis (NEC) is a severe neonatal disease affecting particularly preterm infants. Its exact pathogenesis still remains unknown. In this study, we have compared the prevalence of vascular obstructive lesions in placentae of premature newborns which developed NEC and of a control group. We further compared separately the findings of placentae of infants of less than 30 weeks of gestation, the age group in which NEC occurs most frequently. We found signs of fetal vascular obstructive lesions in 65% of the placentae of preterm patients developing NEC, compared to only 17% of the placentae of preterm patients in the control group. In the age groups below 30 weeks of gestation, 58.5% of placentae of later NEC patients presented such lesions compared to 24.5% in the control group. The significant difference between NEC and control group suggests a strong association between fetal vascular obstructive lesions and NEC. Therefore, we propose that fetal vascular obstructive lesions might be considered as a risk factor for the development of NEC in premature infants.


2015 ◽  
Vol 3 (1) ◽  
Author(s):  
Esmaiel Soleymani ◽  
Mojtaba Habibi ◽  
Mani B. Monajemi ◽  
Esmaiel Soleymani

Background: Dyscalculia tends to debilitating for children with respect to their social interactions and learning process. Although it can cause so many problematic consequences in developmental stages of children, by implementing precise and in time therapeutic intervention, it can be mitigated. Current paper examines the efficacy of emotional regulation techniques among students who suffer from dyscalculia. Materials and Methods: This study was experimental study with pre-test and post-test and control group. Statistical Society of this study included all students (4th, 5th, 6th grader), who suffered from dyscalculia in Bileh town (Urumieh Province/Iran) during 2013-2014(N=76). This study consisted 34 students, who suffered from dyscalculia. These students were chosen via systematic random sampling. Data were collected using Raven IQ test, Shalev mathematical Test, Alexithymia Scale, Psychological wellbeing questionnaire. Regarding analyzing data, MANOVA was used. Results: The results of multivariate analysis of covariance show that between case group and control, significant difference in components of alexithymia and psychological wellbeing were noticed. Hence, it can be inferred that emotional regulation strategies improves component of alexithymia and psychological well being of students with dyscalculia. Conclusion: According to results, teaching emotion regulation strategies to students considered to be effective in promoting awareness and positive attitudes. Thus, it is plausible that implementing these strategies tend to play major role as an intervention among students with dyscalculia.


Author(s):  
Mohammad Hossein Bakhshaei ◽  
Shahram Homayounfar ◽  
Behzad Roozbahani ◽  
Melika Malekpour ◽  
Maryam Farhadian

Background: Myocardial infarction is considered to be the most common symptom of cardiovascular diseases. Regarding the limitation of access to Morphine sulphate as a special drug and complications followed, this study aims to compare the treatment effects of intravenous acetaminophen and morphine sulphate on the reduction of pain in MI patients and to improve the cardiac performance. Methods: The present study is a triple-blind randomized control trial in which 70 patients were divided into two separated groups and the pain was measured using Visual Analogue Scale. All analysis was done using SPSS Software at the significance level of 5 percent. Results: 42 patients were male (60%) of whom 20 were in case group and 22 in control group. There were no significant difference between intervention group and control group in terms of VAS score (p = 0.520). The index change of VAS over the time was statistically significant (p=0.001) in intervention and control groups (intra group change). The results of variance analysis with repeated measurements showed that mean differences of Ejection Fraction over time in both groups of intervention and control was not statistically significant (p=0.28). Conclusion: The findings of this study demonstrate that although Acetaminophen does not have an improved effect on pain control and cardiac performance than Morphine sulphate, it can be still an appropriate alternative for Morphine sulfate due to the lack of destructive effects and its availability.


Author(s):  
Maryam Babaei ◽  
Zahra Kanannejad ◽  
Soheila Alyasin

Bronchiectasis is a clinical syndrome characterized by chronic cough, sputum production, recurrent respiratory infections, and permanent bronchial dilation. The association between the level of alpha-1 antitrypsin (AAT) and bronchiectasis is controversial. In this study, we aimed to investigate this association in children with idiopathic bronchiectasis. The study was conducted on 20 patients with idiopathic bronchiectasis as the case group (mean age 15.9±2.1) and 20 healthy individuals as the control group (mean age 14.9±2.6). Serum AAT level was measured using nephelometric analysis (g/L). Other criteria including sex, parent consanguinity, number of hospitalizations, age of the first symptom were evaluated in both groups related to AAT level. The mean serum level of AAT in the case and control groups were 1.3±0.29; 1.5±0.59, respectively, with statistical significance (P=0.001). There was a significant difference between the two groups in the AAT level distribution, according to AAT normal range (P=0.01). The case group had a more positive attitude toward consanguinity than the control group (66.7% versus 33.3%; P<0.001). The results showed that 80% of patients had the first symptom of disease under one year of age, 6.6% 1-5 years, 6.6% 5-10 years, and 6.6% in more than ten years old. In the case group, 53.3% had a history of medical hospitalization for one time, 26.7% two times, while 20% of the patients had no medical hospitalization. Decreased AAT serum level and high consanguinity rates may be considered as two risk factors for idiopathic bronchiectasis occurrence in children.


2020 ◽  
Vol 4 (1) ◽  
pp. 11-18
Author(s):  
Raden Sunita ◽  
Sahidan Sahidan ◽  
Rachmat Hidayat ◽  
Resva Meinisasti

ABSTRACT   Background: Type 2 diabetes mellitus (T2DM) is a multifactorial disease involving genetic and environmental factors. The E23K KCNJ11 gene polymorphism causes KATP canal overactivity, decreases cell membrane depolarization potential, and decreases insulin secretion. E23K polymorphism of the KCNJ11 gene as a risk factor for T2DM. Research Objective: This study aimed to analyze the E23K polymorphism of the KCNJ11 gene as a risk factor for T2DM in the Bengkulu Serawai. Method: This study is a case-control study. The subjects of the study were 100 people with T2DM patients as a case group (50 people) and Non-DM subjects with families who did not have a history of T2DM as a control group (50 people). Fasting blood glucose (GDP) was analyzed by spectrophotometry and E23K KCNJ11 gene by polymerase chain reaction fragment length polymorphism (PCR-RFLP). Data were analyzed by statistics. Results: The frequency of AA genotypes in cases was higher than the controls (12% and 8%) (p = 0.001). The frequency of A allele in the case was higher than the control (32% and 18%) (p = 0.017). The risk of T2DM on AA / GA genotypes was 4.75 times higher in cases than controls (p = 0,000, OR 4.75 95% CI 2.01-11.24). The risk of T2DM in A allele was 2.14 times higher in cases than in controls (p = 0.017, OR 2.14, 95% CI 1.11-4.15). Conclusion: E23K polymorphism of the KCNJ11 gene as a risk factor for T2DM in Bengkulu Serawai Tribe.   Keywords: E23K gene KCNJ11, DMT2, Non-DMT2.  


2020 ◽  
Vol 1 (1) ◽  
pp. 25-30
Author(s):  
Lusia Hayati ◽  
Siska Delvia

In Indonesia, the cases of cervical cancer are estimated at around 50 per 100.000 people. It wasestimatedthattherearemore than1 millionwomenworldwidewho have cervical cancer,andmostofthemhavenot been diagnosed yet or do not have access to screening and medical treatment. P53 codon 72polymorphism can affect the risk of cervical cancerthrough the regulationofproliferationandcellapoptosis.Thepurpose of this research was to investigate the association between p53 codon 72 polymorphism and cases ofcervical cancer. This research was observational analytic research. The research was done by examining in thelaboratory of Molecular Biology, Faculty of Medicine, Universitas Sriwijaya by using a case-control studyapproach.Thesampleoftheresearchconsistedof 70subjects,andtheyweredividedintotwogroups:35in casegroup and 35 in the control group. The determination of genotype and allotype was done by using PCR-RFLPtechnics. The results of the research showed there was a significant difference between p53 codon 72polymorphism between the case group and control group. The results of genotypes of p53 codon 72polymorphism in the case group were seven respondents (20.0%) with Pro/Pro genotype, five respondents(14.3%) with Arg/Arg genotype, and 23 respondents (65.7%) with Pro/Arg. While in control group, there were 28respondents (80.0%) with Pro/Pro genotype, 0 respondent (0.0%) with Arg/Arg genotype, and 7 respondents(20%) with Pro/Arg. The frequency of the Prolin allele in case group was 37 (52.9%), and the Arginin allele was 33(47.1%), while the frequency of the Prolin allele in the control group was 63 (90%), and the Arginin allele was 7(10%).TheChi-Squareofgenotypewas valued0.000,OR1,304andCI95%1,071-5,891,whiletheallelewas valued0.000,OR8.027 andCI95% 3.228-19.962. Therewas an associationbetweengenotypeand allele of p53 codon72polymorphismandcasesofcervicalcancer


Sign in / Sign up

Export Citation Format

Share Document