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.
Background: human paillomavirus infections (genital warts) are the most frequent sexually transmitted viral infections. a wide range of treatment options is available with different efficacy.
Objective: To evaluate the efficacy of podophyllin, trichloracetic acid (TCA) in the treatment of genital warts and side effects of them.
Subjects and methods: a total of sixty patients with genital warts were randomly selected, 30 in each group, in the Department of Dermatology, medical city for a Duration of 11 months from January 2009 to December 2009 treated with 35 % podophyllin in the tincture of benzoin or 50% TCA) .Forty-eight patients were followed up for three months.
Results: wart
... Show MoreRepeated blood transfusion in beta thalassemia major patients may lead to peroxidative tissue injury by secondary iron overload. In the present study, 100 patients(50 male+50 female) with beta thalassemia major patients with age (5-20) years and 60 healthy control were included during their attendance at Abin Al_Baladi hospital in Baghdad. Malondialdehyde ,Superoxide Dismutase and Vitamin E, were measured by using kits.The results showed A highly significant (p<0.01)increase in the levels of Malondialdehyde and Superoxide Dismutase, whereas, significant p(<0.01)decrease in the levels of vitamin-E, This suggest that oxidative stress and reduced antioxidant defense mechanism play an important role in pathogenesis of beta thalassemia
... Show MoreThis paper aims to find out if FOXP-3 was expressed in samples from Iraqi cervical cancer patients. Expression of FOXP-3 was detected in 55 cervical tissue samples by immunohistochemistry. Since thirty-five cases of aggressive cervical cancer were included, along with 20 normal samples used as controls. The nucleus and cytoplasm levels of FOXP-3 were counted, considering the ratio of positive cells and intensity. FOXP3 cytoplasmic staining was found in 27 out of 35 cases. Only 11 out of 35 samples displayed nuclear lymphocyte staining. Furthermore, four samples expressed this marker in both the nuclear and cytoplasm of the cervical cells. There is a highly significant difference in FOXP3 expression in the cytoplasm of
... Show MoreBackground: Because of its clinical and surgical importance and lack of precise information about this rare and important anatomical landmark, this study was designed to detect the presence, configurations and length of Mandibular Retromolar Canal (MRMC) with aid of CBCT visualization. Materials and methods: In this retrospective study the data was obtained from Specialist Health Center in AL-Sadder city in Baghdad for (100) patients with 200 inferior dental canal, all of them referred to CBCT scan (Kodak 9500, French origin). The scanning was done with tube voltage 90 kVp, tube current with 10mA and exposure time was 10 s., the field of view was measured with 5cm x 3.7cmwith 0.03mm voxel size Results: In the present study the prevalence of
... Show MoreIn order to investigate the levels of reduced glutathione GSH and α1-antitrypsine in the sera of 20 type 2 diabetic patients and 10 healthy subjects, were enrolled in this study. A significant reduction in GSH level was found in the patient group compared with control. On the other hand a significant elevation in α1-antitrypsine in patient compared with control was observed. Correlation between α1-antitrypsine and reduced glutathion was found to be positive (+Ve) for diabetes mellitus type2 patients and negative (-Ve) for healthy control with r values 0.257 and – 0.339 respectively. In conclusion the depletion of GSH as antioxidant defense insured higher free radical generation in diabetic patients
... Show MoreThalassemia is a term that refers to a group of genetic disorders characterized by a defect in the synthesis of hemoglobin. It is sometimes called Mediterranean anemia. Many biochemical changes in the blood accompany this disease. In this research, some biochemical parameters were measured in thalassemic patients and compared with healthy control group. These parameters include serum Iron, ferritin, TIBC, hemoglobin, uric acid, albumin, calcium, transferrin, and transferrin saturation percentage. The results of the research showed that there is a significant increase (P<0.05) in serum iron and ferritin in thalassemic patients group in comparison with healthy control group. A significant decrease (P<0.05) in serum uric a
... Show MoreA disease of the reproductive system known as "infertility" is characterized by the inability to conceive after twelve months or more of sexual activity. This study was carried out to investigate the level of the DAZ protein in “Azoospermia” Iraqi patients. One hundred and fifty human blood samples were collected from different regions in Baghdad governorate include (private medicals Labs and “high institute for infertility diagnosis” assisted reproductive techniques and Kamal Al- Samara'ay IVF Hospital). The control group (fertile) consists of 50 males with an age range between 22-51 years old, while the patient (infertile group) consists of 100 sample males with ages ranging between 25-51 years old. The correlation of mean age for
... Show MoreA total of 70 pregnant women with toxoplasmosis were studied to evaluate of some immunological aspects. The women were distributed into three groups: 37 women were IgG positive, 18 women were IgM positive and 15 women were IgG and IgM positive as well as 25 healthy women were considered as control group. Serum samples were collected and ELISA method was employed to assess levels of interleukins 4, 6, 10, Interferon gamma-induced protein 10 (IP-10), Granulocyte-macrophage colony-stimulating factor (GM-CSF) and Vascular endothelial growth factor (VEGF). As compared with control the levels of cytokines were significantly increased in serum of three pregnant women groups with toxoplasmosis and the highest increase was observed in the IgM positi
... Show MoreThe most common cause of acquired thyroid dysfunction is autoimmune thyroid disease (AITD), which most commonly manifests as Hashimoto's thyroiditis (HT) or Graves' disease (GD). The importance of vitamin D (vit D) as an immune modulator has recently been emphasized in several types of disorders. However, its significance in thyroid illnesses is not fully understood. The purpose of this study is to investigate how vitamin D affects the pathophysiology of hyperthyroidism and hypothyroidism in Iraqi women. One hundred Iraqi women with age ranged from 18 to 60 years participate in this research, 50 of them were hypothyroidism patients, 30 were hyperthyroidism patients and the other 20 were euthyroidism served as controls. Blood samples
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Faces of the individual in his life many stressful events, which includes expertise undesirable, and events may involve a lot of sources of tension and the risk factors and threats in all areas of life, and this would make the stressful events play a role in the genesis of many diseases physical.
The high blood pressure is one of the most Actual manifestations of mental stress in the present scale physical disorders which may frequently in men relative to women, which may be caused by spasms in the blood vessels.