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Identification of genetic mutations associated with autism in GABRB3 gene in Iraqi autistic patients
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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.

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Publication Date
Wed Feb 12 2025
Journal Name
Journal Of Baghdad College Of Dentistry
The study of tempromandibular joint disorders and anti-cyclic citrullinated peptide antibodies in serum and saliva of patients with rheumatoid arthritis
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Background: Rheumatoid arthritis is an autoimmune disease that affects mainly the synovial membranes and articular structures and is characterized by chronic, systemic inflammation involving multiple joints.Being a synovial joint, the Temporomandibular Joint is subject to the same disorders affecting other synovial joints, including RA.Beside it was considered as a specific serological marker for diagnosing RA disease ,antibodies to cyclic citrullinated peptide have proven to be associated with joints destruction, though; it may play a potential role in the prediction of the disease severity. Materials and Methods: Sixty nine individuals (69) were enrolled in this study, forty nine (49) were patients diagnosed with Rheumatoid Arthritis, a

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Publication Date
Sun Dec 30 2012
Journal Name
Al-kindy College Medical Journal
The Detection of Silent Celiac Disease In patients With Type 1 Diabetes Mellitus by the use of Anti Tissue Transglutaminase Antibodies
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Objective: Detection the presumptive prevalence of silent celiac disease in patients with type 1 diabetes mellitus with determination of which gender more likely to be affected.
Methods: One hundred twenty asymptomatic patients [75 male , 45 female] with type 1 diabetes mellitus with mean age ± SD of 11.25 ± 2.85 year where included in the study . All subjects were serologically screened for the presence of anti-tissue transglutaminase IgA antibodies (anti-tTG antibodies) by Enzyme-Linked Immunosorbent Assay (ELISA) & total IgA was also measured for all using radial immunodiffusion plate . Anti-tissue transglutaminase IgG was selectively done for patients who were expressing negative anti-tissue transglutaminase IgA with low tot

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Publication Date
Sat Dec 24 2022
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Occurrence of Quinolone-Resistance Genes in Ciprofloxacin-Resistant Salmonella Enterica Serotype Typhi Isolated form Blood Sample of Patients with Typhoid Fever
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Salmonella is approved as a common foodborne pathogen, causing major health problems throughout the world particularly in low‐ and middle‐income countries. Low-level fluoroquinolone resistance is conferred by both chromosomal and plasmid-encoded resistance, this research was carried out look into the occurrence rate of qnrA,qnrB and qnrS genes  in  Salmonella enterica serotype Typhi Cipr  ofloxacin-resistant insulate from blood samples of patients with typhoid fever. Fifteen Salmonella enterica serotype Typhi isolated previously from patients with typhoid fever were included in this study. All bacterial isolates were confirmed to have ciprofloxacin

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Publication Date
Mon Jul 24 2023
Journal Name
Research Journal Of Pharmacy And Technology
Comparison of the effects of Methotrexate and Etanercept on RANKL and OPG as Bone Metabolism Biomarkers in patients with Rheumatoid Arthritis
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Rheumatoid arthritis is an autoimmune diseasecharacterized by chronic inflammationthat affects joints and cartilage. Bone complications such asRA-relatedosteoporosis are one of the most extra-articular manifestations. Many inflammatory mediators are released during RA disease pathophysiology; these mediators stimulate osteoclast genesis of bone by direct effects on RANKL and OPG. The study aimedto measure RANKL, OPG in RA patients treated with Etanercept only and other groups treated with Methotrexate onlyat baseline and after three months to evaluate bone state. An observational case-control prospective study was done on 30 RA patients who received MTX, 30 RA patients who received ETN, and 30 healthy,age-matched control groups. The

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Publication Date
Wed Aug 30 2023
Journal Name
Iraqi Journal Of Science
Molecular Identification and Phylogenetic-tree Analysis of Hard Ticks from Long Eared Hedgehog Hemiechinus auritus (Gmelin, 1770) in Iraq
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     A total of 77 (35 female and 42 male) hard ticks samples were isolated from 22 long-eared hedgehog during January 2021 to May 2022. All animals were infested with one or two species of hard ticks with 100% infestation rate With the density of infestation mean of 3.5. The areas of collection were Baghdad, Wasit, Karbala and Al-Anbar provinces. Morphological study revealed that both species belonged to one genus of hard ticks: Rhipicephalus sanguineus (Neumann, 1904) 50.64% and Rhipicephalus turanicus (Morel, 1969) 49.35%. The molecular investigation of current study revealed that the sensitive and specific PCR assay allowing rapid and reliable identification of Rhipicephalus sp. by the fragment size amp

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Publication Date
Wed Jan 31 2024
Journal Name
Iraqi Geological Journal
Identification of Lateritic Nickel Deposits Potential in the Kokoe Area, Kabaena Island, Central Buton Regency, Southeast Sulawesi Province, Indonesia
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The study is situated in the Kokoe Region of Central Buton Regency, Southeast Sulawesi, specifically in the southern part of Kabaena Island. Its primary objective is to assess the potential of nickel laterite in the designated area. The research methodology involved microscopic analysis of bedrock using a polarizing microscope, examining the drilling data, including logging descriptions, and utilizing XRF geochemical analysis (Ni, Fe, Al2O3, Co, Mg, and SiO2) from 32 drilling sites. Both elementary grade and laterite profiles were visualized using Strater 5 software to simplify the representation of laterite profiles. Petrographic analysis divided the bedrock into two lithological units: serpentinized lherzolite and serpentinite. Th

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Publication Date
Wed Aug 30 2023
Journal Name
Baghdad Science Journal
Hepatocellular Carcinoma Prediction and early Diagnosis of Hepatitis B and C viral infection using miR-122 and miR-223 in a sample of Iraqi patients.
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Hepatocellular carcinoma (HCC) is the third most common cause of cancer-related death. Therefore, it is critical for researchers to understand molecular biology in greater depth.  In several diseases including cancer, abnormal miRNA expression has been linked to apoptosis, proliferation, differentiation, and metastasis. Many miRNAs have been studied in relation to cancer, including miR-122, miR-223, and others. Hepatitis B and C viruses are the most important global risk factors for HCC. This study is intended to test whether serum miRNAs serve as a potential biomarker for both HCC and viral infections HBV and C. The expression of miRNA in 64 serum samples was analyzed by RT-qPCR. Compared to healthy volunteers, HCC patients' sera expre

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Publication Date
Tue Oct 01 2019
Journal Name
Biochemical And Cellular Archives
THE EFFECT OF TWIST EXPRESSION ON THE DEVELOPMENT OF CERVICAL CARCINOMA IN A GROUP OF IRAQI WOMEN INFECTED WITH HPV
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Cervical carcinoma represent the second predominant cancer in female and there is a strong correlation between cervical cancer and the infection with high-risk types of HPV and expression the viral oncogenes. EMT is viewed as a vital advance in carcinoma development and ensuing metastasis. To evaluate correlation between the expression of Twist and HPV16 infection in a group of Iraqi patients with cervical carcinoma. A total of forty paraffin blocks included in this study which were divided into 30 sample of cervical cancer infected with HPV16and 10 sample of normal cervical tissues. The samples were subjected to immunohistochemical technique using Anti-Twist2 polyclonal antibody. The obtained data from this study indicate that majority of

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Publication Date
Tue Mar 30 2021
Journal Name
Iraqi Journal Of Science
A Molecular Study of Toxic Shock Syndrome Toxin gene (tsst-1) in β-lactam Resistant Staphylococcus aureus Clinical Isolates
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Three hundred and sixty different samples were collected from different sources, including wound, burn, nasal, and oral swabs from several hospitals in Baghdad. A number of 150 (53%) Staphylococcus aureus samples were isolated and identified among a total of 283 samples. Then, the spread of the Toxic Shock Syndrome Toxin-1 gene (tsst-1) was investigated in β-lactamase resistant S. aureus. According to the source of samples, the distribution of S. aureus  isolates was found to be significantly higher (p < 0.01) in wound samples as compared to other sources. According to the age, a highly significant  distribution (p < 0.01) was recorded in the age group of 15-30 years,

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Publication Date
Fri Nov 01 2024
Journal Name
Egyptian Journal Of Veterinary Sciences
Isolation and Identification of Pathogenic Streptococcus pyogenes from Vaginal and Cervical Cavity of Arabian Mares in Al-Zawraa Animals Park
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