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 was conducted to determine the Immuno – globulins and complements quantitatively. The result revealed that the concentration of Immunoglobulin M(IgM) was increased significantly in patient group comparing with control group . The concentration of complement protein C4 was increased significantly in patient group comparing with control group.IgG of Candida albicans was detected by using ELISA Technique, the result indicated also that this antibody was found in 628% of the women who infected with Vulvovaginal Candidiasis. The sensitivity and specificity of the test were 63% and 89% respectively.
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Background: Metabolic syndrome (Mets) is partially heritable. High mobility group AT-hook1 (HMGA1), an architectural transcription factor, affects the homeostasis of glucose. The marked inter-individual differences between T
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Hepatitis, a condition of liver’s inflammation that can be self-limiting or, in certain chances, it may lead to liver cancer, fibrosis or cirrhosis. Hepatitis viruses mainly cause hepatitis in the world. People with hepatitis C have predominant chances to develop diabetes as HCV virus participates in causing type 2 diabetes. HCV virus causes pathogenesis in two ways: it either directly destroys the β cells of pancreas or contributes to the specific autoimmunity of β cells. The present cross sectional study was done in Wazirabad Tahsil of Gujranwala District to analyze the percentage of patients suffering from hepatitis C who had the risk of diabetes mellitus. For this research work, demographic information and data about any other me
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Coronavirus disease 2019 (COVID-19) is caused by severe acute respiratory syndrome called coronavirus 2 (SARS-CoV-2). Due to its concerning rate of transmission and intensity, coronavirus was classified as a pandemic on March 11, 2020. With the continuous evolution of the viral genome and mutations that may alter infectivity, disease severity or interactions with host immunity, SARS-CoV-2 has evolved into many variants: Alpha (B.1.1.7 lineage), Delta (B.1.617.2 lineage), Delta plus (B.1.617.2.1), Omicron (B.1.1.529 lineage) and other variants. Thus, this study aimed to find and provide database for local clinical characteristics of different variants of SARS-COV-2 and severity of infection with viral load compared with the wild
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Endometriosis, an autoimmune disease is among one of the most challenging of the 21 st century that affects women in reproductive age. The aim of the present study is to highlight the role of IL-36γ, and its relationship with other cytokines (Ang-2 and TNF-α) in the pathogenesis of endometriosis . Seventy five (75) consecutive women patient of reproductive age (25-40) years were enrolled in this study , Patients were divided into three groups , group 1 (G1) included (25) newly diagnosed endometriotic patients , that were not given any treatment related to Gynecology or anti-inflammatory medications . Second group : group 2 (G2) consists of (25) endometriotic patient who were treated with zoladex
... Show MoreBy measuring Adropin, fasting blood glucose (FBG), cholesterol, high-density lipoprotein (HDL), triglycerides (TG), low-density lipoprotein (LDL), and very low-density lipoprotein (VLDL) in the sera of Iraqi patients with MetS and type 2 diabetes mellitus (T2DM), the current study was designed to compare some crucial markers in metabolic syndrome (MetS) sera and diabetic patients (T2DM) with control. Twenty female subjects were divided into three groups: group I=40 with MetS and group II=40 with T2DM, and 40 healthy subjects were employed as a control group. Compared to the control group, Adropin levels in the Mets group and T2DM group decreased significantly (p < 0.05). In contrast, none of the patient groups (MetS and T2DM)
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Thyroid hormones (TH) regulate the metabolic processes required for normal development and growth; also, to organizemetabolism in adults, any defect in thyroid function leads to abnormality in thyroid hormones level. The current study hasbeen designed to find the relationship between retinol-binding protein-4 and progranulin in the serum of Iraqi women withhypothyroidism and hyperthyroidism, also, to study whether these patients are exposed to a risk of developing diabetes mellitus,and PGRN may be a biomarker in detection early stage of diabetes mellitus.Materials and Methods: in this study, serum samples were obtained from 50 Iraqis women patients, [25 patients withhypothyroidism (G2) and 25 patients with hyperthyroidism (G3)] in addition
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Polycystic ovarian syndrome (PCOS) is a well-known endocrinopathy and one of the most frequent endocrine-reproductive-metabolic syndromes in women, which can result in reduced fertility. While the actual cause is unknown, PCOS is regarded as a complicated genetic characteristic with a great degree of variability. Moreover, hormones and immune cells, including both innate and acquired immune cells, are thought to interact in PCOS. Chronic low-grade inflammation raises the risk of autoimmune disease. The study's purpose is to investigate the chemokine monocyte chemoattractant protein-1 (MCP-1) and fertility hormones in samples of women patients with polycystic ovary syndrome (PCOS) in the City of Medicine. Sixty PCOS women comprise 30 heal
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The Electric Discharge (EDM) method is a novel thermoelectric manufacturing technique in which materials are removed by a controlled spark erosion process between two electrodes immersed in a dielectric medium. Because of the difficulties of EDM, determining the optimum cutting parameters to improve cutting performance is extremely tough. As a result, optimizing operating parameters is a critical processing step, particularly for non-traditional machining process like EDM. Adequate selection of processing parameters for the EDM process does not provide ideal conditions, due to the unpredictable processing time required for a given function. Models of Multiple Regression and Genetic Algorithm are considered as effective methods for determ
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