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.
Bladder dysfunction is one of the most common complications of diabetes, even exceeding nephropathy or peripheral neuropathy. Diabetic cystopathyaffects patients in both sexes, and its prevalence increases over time with diabetes; our concern is to evaluate the urodynamic findings of bladder dysfunction in diabetic patients.A cross sectional study conducted at Ghazi Al-Hariri Surgical specialized hospital during the period from the firsts of January 2018 to the end of Mar 2019, in which 118 diabetic patients (71 female and 47 male) with lower urinary tract symptoms were enrolled in the current study. The mean age (62±13) years old, 37.3% of patients presented with urgency as the main type of dysfunction. Diabetic cystopathy were fo
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Objective: Knee osteoarthritis is a common disabling chronic disease globally. Many pharmacological agents have been used efficiently in treatment of knee osteoarthritis. This study aims to evaluate metformin and serratiopeptidase together in treatment and stop of osteoarthritis progression by different mechanisms. Methods: Present study was a randomized clinical trial study conducted in Al-Kindi teaching hospital through the period from 1st January to 30th of May, 2017 on two groups of 80 osteoarthritis patients (group I; treated with metformin 850 mg oral tablets) and (group II; treated with metformin 850 mg oral tablets and serratiopeptidase 20 mg oral tablets). Parameters of two groups were compared with those of 40 normal healt
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The aim of this research is to shed some light on the level of
serum total sialic acid (TSA) in individuals with typhoid fever. The individuals were at age of (35-45) years old and (TSA) was measured by resorcinol reagents. The results showed significant reduction in (TSA) compared to control or normal individuals.
Objective: To find out the relationship between the bio-social aspect with cholelithiasis patients and
demographic characteristics in Baghdad city.
Methodology: A purposive (non-probability) sample of (100) patients, from (20-70) years old, who were
selected from patients who were admitted to hospital at preoperative stage, from Gastroenterology and
Hepatology Hospital, Baghdad Teaching Hospital, Al-Yarmook Teaching Hospital, Al-Karama Teaching
Hospital, Teaching Hospital. A descriptive study was carried out from 25th of June 2004 to the end of October
2004.
An assessment form was constructed for the purpose of the study. Test-retest reliability was employed through
computation of Pearson correlation coefficient.
Bladder cancer is the ninth most common malignancy all over the world. Immune picture is important in predicting clinical outcome with bladder cancer, so the aim of the present study was to investigate the number of killer cells in the tissue of the patients with the malignant and benign bladder cancer before treatment by using an antigen retrieval immunohistochemical method on archived bladder tumors tissue. In our study, the number of the patients tissue with malignant cancer that staining by immunohistochemistry of NK cells (20%) was lower than in benign (80%) (p≤0.01). The results of the present study were indicated that the lower level of the NK cells in the malignant tissues may be leads to impaired anti-tumor immune response tow
... Show MoreSerum levels of iron,copper,ceruloplasmin and transferrine were estimated in three groups of patients with ?- thalassemia: 24 patients have splenectomy thalassemia major, 29 patients have non splenectomy thalassemia major and 19 patients have thalassemia intermedia , data were compared to normal and pathological controls (anemia and minor). There were significant increase in trace element levels in all studied groups of pateints as compared to normal and pathological controls. Also there were a significant increase in ceruloplasmin levels,While the result revealed that there were a significant decrease in transferrine levels in all groups of patients studied as compared to normal and pathological controls. The result also indicate that the
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Inhaled corticosteroids are the most effective controllers of asthma, although asthmatics vary in their response. FKBP51 is a major component of the glucocorticoid receptor which regulates its responses to corticosteroids. Therefore, the present study aims to identify the role of FKBP5 gene polymorphism in asthma susceptibility and corticosteroid resistance.
DNA was extracted from the blood of 68 asthmatic
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Cutaneous leishmaniasis (CL) is an endemic parasitic disease found in many provinces of Iraq. The immune system plays a crucial role in the development or healing of lesions through chemotactic cytokine activity. This study was aimed to detect the levels of two chemokine ligands (CCL2 and CCL5) in Iraqi patients suffering from dermal ulcers, caused by cutaneous leishmaniasis. It was measured in pre and post-treatment state of Pentostam (Pentavalent Antimony 100 mg). Blood serum concentrations of CCL2, CCL5 were measured by enzyme-linked immunosorbent assay among newly infected patients, two-trial treatment patients and three-trial treatment patients, in comparison with the control group. The result indicated a significant differ
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Objectives: The study aims to identify the quality of life level in schizophrenic patients and to find out the
relationships between the quality of life and some of personal characteristics for those patients with
schizophrenia.
Methodology: A descriptive correlation analytic design was used by using the assessment technique on sample
of 100 schizophrenic outpatients, who were selected purposively (non-probability sample) during the period
10/ 3/2013 - 1/ 12 /2013. The study was conducted on the schizophrenic patients in an out patient psychiatric
clinics at Ibn-Rushd; and Al-Rashad Psychiatric Teaching Hospital; Baghdad Teaching Hospital, and Al-Kadhimya
Teaching Hospital. Self administrative questionnaire was used