This study was aimed to detect and identify genetic mutations in γ-aminobutyric acid receptor β3 subunit encoding gene (GABRB3) and its association with autism spectrum disorders. Forty autistic patients and 25 non-autistic as control group (5 unaffected sibling and 20 unrelated) with age range from 3 – 10 years were included in this study. Chromosomal DNA was extracted from blood samples followed by polymerase chain reaction (PCR) amplification of two targeted regions which include: (exon2-intron2-exon3) region and (exon 6) region of GABRB3 for subsequent DNA sequencing. Identical bands related to the targeted regions were present in all samples. A sample of PCR products of patients and controls were sequenced. Sequencing results revealed the presence of four different single nucleotide polymorphism (SNPs) in four autistic patients (one SNP in exon2, two SNPs in intron 1 and one SNP in the beginning of intron 3) while four different autistic samples and three from control group had no mutations along this region. Exon 6 showed 100 % sequence identity in all samples (seven autistic and three from control group). The translation of nucleotides sequences into amino acid sequence revealed that the SNP in exon 2 caused a change of amino acid in the polypeptide sequence by changing the codon (AGA) which codes for arginine to (AAA) which codes for lysine. The online software tool, RaptorX was used for the prediction of the three dimensional structure of the polypeptides in which exon 2 carrying one SNP (30 a.a.) showed that 5 (16%) positions predicted as disordered, while the structure prediction of polypeptide translated from exon 3 was not obtained due to its small length (22 a.a.). Structure prediction of polypeptide of exon 6 (46 a.a.) showed that (0%) positions predicted as disordered, considering its lack of mutations. These results suggest the association of the detected SNPs with autism, especially the SNP located in exon 2 considering that it changed the polypeptide three dimensional structure, thus it could possibly alter its function. All SNPs are reported for the first time in this study except the one in intron 3 (rs755863611) which was previously reported.
This study aimed to determine the effect of varicocelectomy on sperm parameters, oxidant- antioxidant status and chromatin maturity percent. The current study has been conducted on 154 infertile patients complaining from varicocele and varicocelomized men in addition to 25 fertile men as control. The results revealed significant decrease (P<0.05) in sperm concentration, progressive motile sperm percent, normal sperm morphology percent, GSH, SOD1, CAT levels and chromatin maturity percent and significant increase (P<0.05) in MDA and ROS concentrations in infertile patients with varicocele when compared to fertile men. The results revealed improvement (P<0.05) of sperm parameters quality, GSH, SOD1, CAT, MDA, ROS concentration and chromatin m
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Artificial Neural Network (ANN) is widely used in many complex applications. Artificial neural network is a statistical intelligent technique resembling the characteristic of the human neural network. The prediction of time series from the important topics in statistical sciences to assist administrations in the planning and make the accurate decisions, so the aim of this study is to analysis the monthly hypertension in Kalar for the period (January 2011- June 2018) by applying an autoregressive –integrated- moving average model and artificial neural networks and choose the best and most efficient model for patients with hypertension in Kalar through the comparison between neural networks and Box- Je
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Multiple sclerosis (MS) is a chronic disorder of the central nervous system (CNS) characterized by autoimmune inflammation, demyelination, and axonal damage. The present study aimed to shed a light on the contribution of interlukin-35 and its relation to some sex hormones in the pathogenesis of multiple sclerosis. Sixty six female patients with age range (20-40) years were taken from Baghdad Teaching Hospital through the period from Nov. 2012 to –April 2013 and 20 apparently healthy subject as control group matched age as group G1. The patients were divided into three groups depending on duration of MS diseases G2 from 3 months to 2 years, G3 from 2 years to 4 years, G4 from 4 years to 10 years and more. Investi
... Show MoreAbstract The results of isolation, morphological and microscopic diagnosis, Chromic Agar, Vitik technology and Bact Alert showed that the diagnosis of fungi isolated from blood samples of end-stage renal patients who did not undergo dialysis and those who underwent dialysis was 60 samples for each type. The total number of fungal isolates isolated from people who did not undergo dialysis was 26 pathogenic fungal isolates, with a percentage frequency of 43.33%. In this study, 4 genera of pathogenic fungi were identified: Candida spp, Rhodotorula spp, Cryptococcus spp. and Aspergillus spp. The number of Candida isolates reached 13 isolates, with a frequency of 50%. The results also showed that the diagnosed species from the genus Rhodotorula
... Show MoreImmunological genes, including TLR3 and RIG-I, have recently been established to have linked to predisposition to coronavirus disease 2019 (COVID-19) and its severity. The purpose of this case-control study (100 recovered COVID 19 cases and 100 healthy individuals) was to determine the role of gender, age, TLR3 and RIG-I genes in COVID-19 aggressiveness. TLR3 and RIG-I gene expression was detected using a quantitative real-time polymerase chain reaction (qRT-PCR). COVID-19 infection intensity increased with age and no statistical difference between males and females (p>0.05) was found. TLR3 and RIG-I gene expression levels were higher in patients compared to hea
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Our aim was to investigate the changes in the myocardium stiffness index for patients suffering from systemic hypertension, and to assess their left ventricular performance. We studied 263 hypertensive patients and 166 healthy subjects as a control group. By using conventional Doppler echocardiography, the following parameters were measured—Left ventricular end diastolic diameter, left ventricular end systolic diameter, transmitral early velocity, isovolumic relaxation time, and isovolumic contraction time. Tissue Doppler imaging (TDI) was used in the measurements of the early mitral annular velocity (Ea) and the diastolic stiffness was obtained by calculating the ratio E\Ea\LVIDd. Index myocardial performance (IMP) was calculated
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Background: Monocyte chemotactic protein-1 (MCP-1) is a chemokine expressed by inflammatory and endothelial cells. It has a crucial role in initiating, regulating, and mobilizing monocytes to active sites of periodontal inflammation. Its expression is also elevated in response to pro-inflammatory stimuli and tissue injury, both of which are linked to atherosclerotic lesions. Aim of the study: To determine the serum level of MCP-1 in patients with periodontitis and atherosclerotic cardiovascular disease in comparison to healthy control and evaluate the biomarker's correlations with periodontal parameters. methods: This study enrolled 88 subjects, both males and females, ranging in age from 36-66 years old, and divided into four groups: 1<
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Background: Systemic sclerosis (SSc) is a chronic autoimmune illness, which is consider by three main features: Sclerotic changes in the skin and internal organs, Vasculopathy of small blood vessels, Particular autoantibodies (1). The most important autoantibodies appeared significantly in SSc patients are anti-topoisomerase I autoantibody (Scl-70), anti-centromere autoantibody (ACA), and anti-RNA polymerase III autoantibody (RNAP3) (2). Anti-centromere antibodies (ACA) are infrequent in rheumatic conditions and in healthy persons but occur commonly in limited systemic sclerosis (CREST syndrome), and rarely appeared in the diffuse form of systemic sclerosis (3). Anti-Ro/SSA and antiLa/SSB, antibodies directed against Ro/La ribonucleoprot
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Background: This study aimed to determine the value of Beta angle for a sample of Iraqi adults with class I skeletal and dental relations and to verify the existence of sexual dimorphism and to find out the relation between this angle and other craniofacial measurements. Materials and Methods: Sixty dental students (23 males and 37 females) with an age ranged between 20-31 years old and having class I skeletal and dental relations were chosen for this study. Each student was subjected to clinical examination and digital true lateral cephalometric radiograph. The radiographs were analyzed using AutoCAD 2007 computer program to measure the angular and linear variables. Descriptive statistics were obtained for the measurements for both genders
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