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.
BACKGROUND: Diffuse astrocytomas constitute the largest group of primary malignant human intracranial tumours. They are classified by the World Health Organization (WHO) into three histological malignancy grades: diffuse astrocytomas (grade II), anaplastic astrocytomas (grade III) and glioblastoma (grade IV) based on histopathological features such as cellular atypia, mitotic activity, necrosis and microvascular proliferation. Epidermal growth factor receptor (EGFR) is a 170-kDa transmembrane tyrosine kinase receptor expressed in a variety of normal and malignant cells regulating critical cellular processes. When activated, epidermal growth factor receptor (EGFR) triggers several signalling cascades leading to increased proliferatio
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The present study was designed to shed light on the molecular effects caused by acute myeloid leukemia (AML). It was also aimed to investigate ASXL1 point mutations in newly AML patients as compared to healthy control. The study comprised of 43 AML Iraqi patients and their ages ranged between 16-75 years. It included 23 females and 20 males compared with 20 healthy controls. Results revealed that the extracted DNA from 30 AML patients and amplified by PCR to obtain ASXL1 gene from exon 12 showed larger bands (479). Among forty three patients, two of them displayed point mutations of deletion and substitution, while the others were normal since no mutations were detected. The total of mutations in two mutated patients was 27 mutations, the m
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Background: Anemia is a common finding in patients with renal failure disease and it is, primarily, due to reduced production of iron and erythropoietin. Therefore, the aim of current study was to evaluate the relationship between serum level of hepcidin 25, on the one hand, and levels of serum iron, total iron-binding capacity, serum erythropoietin and transferrin saturation% in Iraqi male patients undrgoning haemodialysis.. Methods: Serum from75 males in the end stage of hemodialysis, as group one, and 25 Iraqi healthy malecontrols, as group two, were recruited in this study. Results: Data from current study showed significant increase in hepcidin 25 and significant decrease in serum iron, total iron-binding capacity, transferrin saturati
... Show MoreThe present study aimed to look for the differences in the oxidative stress status in sera and saliva samples of type 2 diabetic Iraqi patients with and without proliferative diabetic retinopathy. As well as to look for the possibility whether this status can be measured in saliva as an alternative sample to that of serum, hence to achieve that total oxidant status, total antioxidant status and oxidative stress index were measured in both sera and saliva samples of two groups of patients with type 2 diabetes mellitus and the healthy individuals. Upon the comparison between patients without proliferative diabetic retinopathy and the control sample the results showed presence of a significant increase (p < 0.05) of total oxidant st
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The oral cavity has the second major and most diverse microflora after the gut. Since it is the starting point of digestion; the oral microbiota is essential for maintaining oral and systemic health. Thus, this study aimed to find the bacterial isolates which act as a causative agent of periodontal diseases in Iraqi patients and their relation with some immune oral parameters. Saliva specimens and oral swabs of 91 patients (51) and control individuals (40) were collected in this study. The specimens of patients were collected from Al-Amirya and Almaamon Specialized Dental Centers in Baghdad for a period from November/2021 to February/2022. The microbiological results revealed, that the most prevalent bacterial isolates were re
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Diabetic neuropathy is a form of nerve damage that can occur in people who have diabetes. High blood sugar (glucose) induced nerve damage in every part of the body. The nerves in the legs and feet were the most frequently affected. The extent to which a diabetic patient's body is impaired is calculated by the degree of nervosa harm.The purpose of this present study is estimation BMI,IL-10 , nesfatin-1 and HS-CRP in Iraqi DN patients before and after treatment via tegretol as well as it is the first study sheds light on the relationship between Nesfatin -1 and other parameters ( BMI,IL-10 and HS-CRP) also predication of Nesfatin-1 as a newly biomarker in patients with diabetic neuropathy. The present study consist of from 30 cohort G1 as hea
... Show MoreObjectives: With the advent of ongoing novel modalities toward the treatment of human epidermal growth factor receptor 2 (HER2)/NEU - positive malignancies, the serious side effects of chemoradiotherapy have been minimized. Hence, this study was conducted to identify the patterns of immunohistochemical expression of the promising therapeutic target (HER2/NEU) among Iraqi patients with medulloblastoma in an attempt to provide basic histological information’s that would help in future clinical researches.Materials and Methods: In this retrospective study, 42 formalin - fixed paraffin - embedded tissue blocks represent cases of surgically removed medulloblastomas were retrieved from the archived materials in a specialized surgical ho
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Non-alcoholic fatty liver disease (NAFLD) is one of chronic liver and defines by fat accumulation ≥5% in liver which can progresses to non-alcoholic steatohepatitis (NASH). NAFLD related to obesity as well as non obese individuals. Adiponectin is a cytokine secreted from adipose tissue involved NAFLD pathogenesis and liked with obesity. Irisin is a myokine, has a convenient effect against metabolic diseases such as obesity, disylipemia diabetes type 2 and reversed liver steatosis and may be related with NAFLD.
Vitamin D is one of the fat soluble vitamins and more precisely as a pro-hormone through its metabolite (1,25(OH)2 cholecalciferol) the major steroid hormone. After the skin exposure to the light, vitamin D un
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The current work was designed to investigate serum angiopoietin like protein-8 and hyaluronic acid among Iraqi hemodialysis patients with and without type 2 diabetes mellitus, and to find relationship between them, as well as if these patients are at risk of kidney fibrosis. Subjects & Methods: in this study, serum samples were obtained from (60) Iraqis patients with end stage renal diseases (ESRD)on hemodialysis (HD) (30 patients with T2DM (G2) and 30 patients withoutT2DM (G3)) in addition to (30) healthy individuals as a control group (G1), their ages ranged from (35-65) years. The patients attended the Al-Yarmouk Teaching Hospital, Baghdad. Results: the results in this study showed a highly a significant elevation inserum angiopoietin li
... Show MoreBackground: Inflammatory bowel disease (IBD) is a collection of chronic, recurrent inflammatory illnesses of the gastrointestinal system, including Crohn's disease (CD). Infliximab is one of the biological medications used to treat CD. Therapeutic drug monitoring has evolved as a treatment in IBD, aiming to optimize benefit while meeting more demanding, objective end criteria. Objective: To determine the achievement of target trough level (TL), develop anti-drug antibodies (ADAs) to infliximab, assess response to therapy, and study TL relations with different variables. Methods: The present study was cross-sectional and conducted from May 2022 to November 2022. It included 40 CD patients allotted into 2 groups: group 1 patients ach
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