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.
Diabetic nephropathy (DN) is a principle cause of microangiopathy and the main reason for kidney disease at the end stage in patients with type 2 diabetes mellitus (T2DM). This work aimed to study the relation of pentosidine with kidney injury in the case of diabetic nephropathy. This study included 75 patients suffering from T2DM and 75 apparently healthy subjects. The patients group was divided into three groups ((normoalbumin, microalbuminuria, and macroalbuminuria; 25 patients for each) on the basis of albumin-creatinine ratio (ACR) . The level of serum pentosidine was determined using an ELISA kit. The level of pentosidine was found to be significantly higher in DN patients than in the healthy group. Also, the results revealed a str
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Fusobacterium are compulsory anaerobic gram-negative bacteria, long thin with pointed ends, it causes several illnesses to humans like pocket lesion gingivitis and periodontal disease; therefore our study is constructed on molecular identification and detection of the fadA gene which is responsible for bacterial biofilm formation. In this study, 10.2% Fusobacterium spp. were isolated from pocket lesion gingivitis. The isolates underwent identification depending on several tests under anaerobic conditions and biochemical reactions. All isolates were sensitive to Imipenem (IPM10) 42.7mm/disk, Ciprofloxacin (CIP10) 27.2mm/disk and Erythromycin (E15) 25mm/disk, respectively. 100% of
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Background: Diabetic mellitus (DM) is a collection of metabolic disorder identified by hyperglycemia. The heterogeneous etiology includes defects either in insulin secretion, or in insulin action, or the both. In addition to the distraction in carbohydrate, fat and protein metabolism. Inflammatory reaction that caused by many pro-inflammatory cytokines play a central role in the pathogenicity of T2DM, these cytokines can enhance insulin resistance which led to impaired glucose homeostasis. Subjects: The study included 75 patients (38 males and 37 females) suffering from T2DM with age mean ± SE 52.30 ± 1.60, and 70 individuals as healthy controls (35 males and 35 females) with age mean ± SE 48.88 ± 0.64. Evaluation of immunological marke
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Pseudomonas aeruginosa is a common and major opportunistic human pathogen, its causes many and dangersinfectious diseases due to death in some timesex: cystic fibrosis , wounds inflammation , burns inflammation , urinary tract infection , other many infections otitis external , Endocarditis , nosocomial infection and also causes other blood infections (Bacteremia). thereforebecomes founding fast and exact identification of P. aeruginosafrom samples culture very important.However, identification of this species may be problematic due to the marked phenotypic variabilitydemonstrated by samples isolates and the presence of other closely related species. To facilitate species identification, we used 16S ribosomal DNA(rRNA) sequence data
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Background: Fibromyalgia syndrome and psoriasis share various soft problems. In addition, patients with psoriasis can experience subjective joint swelling and pain (Fibromyalgia syndrome) and objective swelling (Psoriatic arthritis) with the latter requiring systemic disease modifying antirheumatic drugs while the former requires anti-fibromyalgia measures.
Objective: To assess the rate of fibromyalgia syndrome in a sample of Iraqi patients with psoriasis.
Patients and Method: A sample of one hundred and twenty Iraqi patients with psoriasis and another one hundred and twenty healthy individuals matched for age and sex, serving as control group were studied. Full history was taken and complete clinical examination was done and vario
Infection of the gastric mucosa with Helicobacter pylori is strongly associated with chronic gastritis, peptic ulcer and gastric cancer. Helicobacter pylori virulence factors include a variety of proteins that are involved in its pathogenesis, such as VacA and CagA. Another group of virulence factors is clearly important for colonization of H.pylori in the gastric mucosa. These include urease, motility factors (flagellin), and Superoxide dismutase (SOD). Because of this organism's microaerophilic nature and the increased levels of reactive oxygen in the infected host, we expect that other factors involved in the response to oxidative stress are likely to be required for virulence. Superoxide dismutase is a near
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Background: Fibromyalgia has been associated with physical and emotional trauma including invasive medical procedures. Both Fibromyalgia and ischemic heart disease have been linked with depression. The aim of the study is to assess the prevalence of fibromyalgia syndrome in patients with ischemic heart disease.Patients and Methods: A cross-sectional comparative study was done in the Iraqi Center for Heart Disease. One hundred patients, angiographically proved to have ischemic heart disease, were subjected to rheumatologic examination by another physician, and compared to hundred healthy individuals as a control group. Diagnosis of fibromyalgia was based on 1990 American College of Rheumatology Classification criteria for the diagnosis of
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Background: Breast cancer (BC) is a type of cancer originating from breast tissue, Lipid profile seems to influence the development of female breast cancer, especially in the presence of an increased body mass index so.
Objective: to explore the status of lipid profile in women with breast cancer.
Subjects and methods: the present study is a cross-sectional study (2010/2011) done at Al-Yarmouk Teaching Hospital. Includes measurement of LP in sera of postmenapausal newly diagnosed women with BC in comparison with healthy control women. This measurement was done using colorimetric method. In The results of this study include a total of 100 patients with BC were involved in this study, they were classified as newly diagnosed postmenop
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Background: The etiology of ischemic heart disease (IHD) is believed to have an immunological component. Association with human leukocyte antigens (HLAs) has been previously reported, particularly with DR6.
Patients and methods: 75 cardiac patients were admitted to the coronary care unit, Baghdad Teaching Hospital over the period October 2008-May 2009 with the clinical diagnosis of acute
coronary syndrome and STEMI myocardial infarction their ages range was (25-82) years the number of male was (55) (73.3%) and female was (20) (26.7%). All cases have routine ECG, cardiac marker’s measurements, routine haematological, Biochemical test and 2mls of blood reserved for HLA study.
Results: It was found that H