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.
Rheumatoid arthritis (RA) is a chronic inflammatory polyarthritic disease associated with remissions and exacerbations and characteristic genetic, clinical, pathological, and immunological features. The present study was designed to evaluate some immunological parameters of some Iraqi patients with RA. The study was carried out on 75 Iraqi RA patients who were referred to the consultantand which divided into 59 female and 16 male, treated and non-treated. The diagnosis of those patients has been performed under supervision of a specialist physician in rheumatology. Enzyme linked immunosorbent assay (ELISA) technique has been applied for the detection of anti-cyclic citrullinated peptide antibodies (anti-CCP) and (Interleukin-1α (IL-1α)
... Show MoreBackground : The aim of this work is to study the clinical features and causative fungi of tinea pedis in diabetic and non-diabetic patients. Result : Tinea pedis was estimated to be the second most common skin disease in the United States, after acne. Up to 15% of the U.S., population may have tinea pedis. Across Europe and East Asia, prevalence rates reach 20 %. Methods: The Complete history taking regarding: age, sex, occupation, residency, history of diabetes and diabetic profile (fasting blood sugar and post prandial).and Clinical examination of the feet Aim of the study : The aim of this work was to study the clinical features and causative fungi of tinea pedis in diabetic and non-diabetic patients Conclusion : Tinea pedis is more
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Toxoplasma gondii is an obligate intracellular protozoan parasite; it spreads via the circulatory system during infection and causes chronic infection in various organs. Toxoplasmosis affects nearly one third of people worldwide, especially immunocompromised people. This study aimed to determine the effect of toxoplasmosis on renal function in hemodialysis patients. Overall 300 patients referred to the Medical City, Al-Karama General Hospital, Baghdad, Iraq were enrolled from 2021 to 2022. All serum samples were tested for T. gondii immunoglobulins (IgG and IgM) antibodies, urea and creatinine levels. In patients undergoing hemodialysis, the results revealed a high positivity percentage for anti-Toxoplasma IgG. In hemodialysis patients infe
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Background: Epilepsy is a common neurological disorder of incidence rate 1-2%. Genetic, congenital, developmental, tumors, head trauma and central nervous system infections maybe the cause of epilepsy. This study aimed to determine the prevalence of stomatitis, xerostomia and taste disorder among patients taking carbamazepine or sodium valproate and to make salivary analysis for IgA, cystatin c and salivary flow rate. Material and method:This study performed in al- Yarmuk teaching hospital in Baghdad, Samples consist of (70) epileptics half of them treated with carbamazepine and other half treated with sodium valproate, and (18) healthy control group of both genders and with different ages to detect the prevalence of oral manifestations, s
... Show MoreBackground: Fractures of the humeral shaft accounting for approximately 3% of all fractures. There is a wide array of good options for their treatment and controversy over the best methods. Although good techniques of osteosynthesis are available, the aim of this article is toemphasize on the benefit and good outcome of conservative treatment for properly selected cases to decrease the cost and avoid the complications of surgery. Method : During the period from February 2011 to June 2012 fifty-five fractures of humeral shaft were treated at orthopedicdepartment in the ALKindyteaching hospital. 22 fractures considered suitable for the study. The patients treatedconservatively by using the‘U’ shaped coaptation slab. Then we shift to POP c
... Show MoreABSTRACT The present study was conducted to determine the mode of presentation of hypothyroidism in pediatric patients and the effects of timing of diagnosis and therapy on the patient’s outcome. The study involved review and evaluation of the medical records of 41 registered patients in the Endocrine clinic of Children Welfare Teaching Hospital in Baghdad during the period from January 1991 to July 2007. Forty one patients included in this study. Twenty four (58.5%) were males and17 (41.4%) were females with a male to female ratio of 1.4:1, their age range is 40 days to12.3 years. The majority of the studied patients were infants 19(47%). The most commonly observed presenting features were growth retardation and short stature. The best t
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Reactive arthritis (ReA) is an incendiary joint inflammation that occurs few days to weeks after a gastrointestinal or genitourinary infection. The etiology of the disease is not well-known. Therefore, the present study included 80 females and 25 males, divided into 51 patients with reactive arthritis and 54 healthy individuals as control group. The study involved the detection of serum levels of anti-rheumatoid factor and anti-cyclic citrullinated peptide antibodies (anti-CCP) as well as those of CRP and C3 in all subjects. In addition, EBV levels were detected by Real Time-PCR technique. The results showed significantly increased levels (P < 0.05) of CRP, C3 and anti-CCP Ab in ReA patients’ group compared to th
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It has been well documented that hemodialysis patients have impaired immune response, which may result in higher prevalence rates of viral infections, including CMV. Infections in these patients may be due to primary infection or, more commonly, by reactivation of latent virus or re-infection with exogenous virus, which may be introduced by blood transfusion. The aim of this study was to evaluate the frequency of CMV-IgG and IgM antibodies among hemodialysis patients. The current research included 116 hemodialysis patients (69 male and 47 female) who attended to Tikrit Teaching Hospital for the period from beginning of October/2013 to the end of April/2014. CMV-IgG was found in 102 out of 116 (87.9%), while CMV- IgM was detected in 10 ou
... Show MoreDetermination of Interleukin-8 (IL-8) Levels In Pneumonia Patients