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.
This study was attempted to determine optimum conditions, for Glutathione s-Transferase enzyme, in sera of three groups diabetic patients type1 depending on duration of disease without complications compared with control group. The aim of this study was to find optimum conditions were determined such as (pH, Substrate Concentration, Temperature, Incubation time, Enzyme concentration, and effect of(0.15M)(0.25M) of mono divalent compounds). And to find the kinetics parameters in the three groups of diabetic patients when compared with control. It was found optimum pH(8.5,4.5,2.5,6.5).Temperatures(20cº,40cº,50cº,30cº). Incubation times (7min, 4min, 4min, 5min) substrate concentrations (12µl, 10µl, 5µl, 10µl) enzyme concentra
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Background: Multifactor affect the pathogenesis of thrombosis in solid malignancy; however, a significant role is attributed to the cancer cells ability to interact with and activate the host hemostatic system. [1]
Hemostasis is highly correlated to tumor growth, angiogenesis and metastasis, modulation of these pathways reflects interesting and promising treatment options in the future. [1]
Most patients with cancer frequently suffer from chronic compensated DIC and have abnormal laboratory coagulation tests without clinical manifestations of thrombosis, which is a subclinical hypercoagulable state that can be detected by varying degrees of activation of blood clotting. The results of laboratory tests in th
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This present study demonstrated that liver was involved in 14 %of typhoid patients manifesting with hepatomegaly. Elevation of serum enzymes in typhoid fever was presumably of a muscular origin, while elevation of liver enzyme was relatively less common. This study was performed on 30 female patients diagnosed by ultrasound (US) of abdomen, with paratyphoid A, ranged between (20-40) years compared with 30 healthy control .Patients volunteers were treated with appropriate antibiotics for 14 days and investigations were repeated 2-3 week after completion of treatment. Patients had clinical and biochemical evidence of hepatic dysfunction. The spectrum of hepatic involvement included hepa
... Show MoreBackground: The aim of this study was to evaluate and compare the apical microleakage around retrograde cavities prepared with ultrasonic technique and filled with (Biodentineâ„¢) Materials and methods: 40 extracted single rooted human permanent maxillary teeth with mature apices were selected. The roots were prepared chemo-mechanically using k-files with crown-down technique and then obturated with lateral condensation gutta-percha technique. Teeth were divided into four main groups according to the cavity preparation method either manual or ultrasonic technique: Group A (n=10): A class I retrograde cavity at root end was prepared with traditional handpeice equipped and placement of Biodentine with manual condensation. Group B (n=10):
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(2)
Background: The aim of this study was to evaluate and compare the apical microleakage around retrograde cavities prepared with ultrasonic technique and filled with (Biodentineâ„¢) Materials and methods: 40 extracted single rooted human permanent maxillary teeth with mature apices were selected. The roots were prepared chemo-mechanically using k-files with crown-down technique and then obturated with lateral condensation gutta-percha technique. Teeth were divided into four main groups according to the cavity preparation method either manual or ultrasonic technique: Group A (n=10): A class I retrograde cavity at root end was prepared with traditional handpeice equipped and placement of Biodentine with manual condensation. Group B (n=10):
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(2)
BACKGROUND: The rapidly growing knowledge regarding factors controlling tumour growth, with the new modalities of therapy acting on the biological activity of the tumours draw the attention of most cancer researches nowadays and represent a major focus for clinical oncology practice. For the detection of HER2/neu protein overexpression and gene amplification, immunohistochemistry (IHC) and in-situ hybridisation (ISH) is the recommended techniques, respectively, with high concordance between the two techniques. The current United Kingdom recommendations for HER2/neu testing are either for a two-tier system using IHC with reflex ISH testing in equivocal positive cases, or a one-tier ISH strategy. AIM: To compare the results of HER2/neu gene s
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(2)
Background: Recent research indicates that persistent inflammatory responses may contribute to the rise of diabetic nephropathy (DN) and diabetic cardiovascular disease (DCVD) in type 2 diabetes mellitus patients (DM2). Numerous molecules associated with inflammation and angiogenesis have been implicated in the development and progression of DN and DCVD, respectively. Methods: The subjects were separated into five groups: healthy controls (n= 25), type 2 diabetes mellitus patients (n= 30), type 2 diabetes mellitus patients with nephropathy DN (n= 30), and type 2 diabetes mellitus patients with cardiovascular disease DCVD (n= 30). The blood levels of irisin, IL-8, HbA1C, urea, and creatinine were determined. Results: In current study there w
... Show MoreA fracture is a damage to bone tissue that causes damage to the tissue surrounding the bone and may penetrate the skin. Subjects and methods: the present study included (80) fractured Iraqi patients (and 40) patients with DM2 and (40) without DM2 and compared them with (40) healthy control. Patients and control are matched in age. This study showed a significant increase in retinol-binding protein 4 (RBP4) and a considerable decrease in Vit .A GPT and GOT in fracture patients with and without DM2. In addition, there was a significant negative correlation between RBP4 with (GPT and GOT) in fracture patients with DM2 and a significant positive correlation between RBP4 with (GPT and GOT) in fracture patients without DM2.
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Background: The estimation of ferritin and related variables by complete serum iron profile, for Iraqi hashimoto’s patients to see the effect of thyroid hormone insufficiency, which may lead to deficiency of ferritin iron stores, this may be quite useful during the diagnosis and treatment of hashimoto’s patients. Patients and Method: The study was performed at National Center of Teaching laboratories of Medical city institute in Baghdad. Fifty newly diagnosed patients with hashimoto’s and forty apparently healthy controls. Diagnosis based on thyroid profile analysis including:Thyroid Stimulating Hormone (TSH), Thyroxine (totalT4) and Triiodothyronine (total T3), estimation of antibodies against thyroperoxidase, iron profile including:
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An experiment was carried out in the vegetables field of Horticulture Department / College of Agriculture / Baghdad University , for the three seasons : spring and Autumn of 2005 , and spring of 2007 , to study the type of gene action in some traits of vegetative and flowery growth in summer squash crosses (4 x 3 = cross 1 , 3 x 7 = cross 2 , 3 x 4 = cross 3 , 3 x 5 = cross 4 , 5 x 1 = cross 5 , 5 x 2 = cross 6). The study followed generation mean analysis method which included to each cross (P1 , P2 , F1 , F2 , Bc1P1 , Bc1P2) , and those populations obtained by hybridization during the first and second seasons. Experimental comparison was performed in the second (Two crosses only) and third seasons , (four crosses) by using RCBD with three
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