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 aimed to find relationship between thymidine kinase-1 (TK-1) as tumor marker and total antioxidant capacity (TAC) in Iraqi children patients with thrombocytopenia and with thrombocytosis. The present study conducted 60 children patients (30 patients with idiopathic thrombocytopenia purpura (ITP) and 30 patients with thrombocytosis caused by leukemia) attending the Children Fever Hospital in the Medical City / Baghdad, and 30 healthy children as a control group. All study groups were with range ages (1-15) years, and they were diagnosed by assay of platelet count, Prothrombin Time (PT), and partial Thromboplastin Time (PTT). The results shown elevation in plasma TK-1 and TAC values in children patients with thrombocytopenia and w
... Show MoreThis study is carried out on patients with type 2 diabetes mellitus to assess the lipid profile, malondialdehyde and glutathione. Our study is concerned with 51 (Iraqi Arab females) patients of type 2 diabetes mellitus compared with 31 control subjects unified in age, sex and ethnic background. Lipid profile is measured by using commercially available kits, while the serum MDA and glutathione levels are measured by means of sandwich ELISA test using commercially available kits. Serum MDA is significantly higher (P<0.001) while glutathione is significantly lower (P<0.001) in type 2 diabetic patients when compared to the control. The normal levels of MDA (3.82 ± 0.77n mol/ml) and GSH (2.23 ± 0.54 µg/ml) recorded for the non-diabetic female
... Show MoreBackground: Polycystic ovary syndrome (PCOS) is common heterogeneous disorder syndrome in females, characterized by chronic oligoovulation, polycystic ovary, and hyperandrogenism. This study aimed to the association of ferritin and transforming growth factor- β1 (TGF-β1) levels with insulin resistance, cardiovascular and type 2 diabetes risks. Patients and methods: (61) Iraqi women with PCOS patients diagnosed according to the Rotterdam criteria, were subdivided according to their Body Mass Index (BMI) to: (20) lean women with normal BMI: (18-24), (17) overweight women with BMI: (25-29) and (25) obese women with BMI >30. For the the purpose of comparison, (20) healthy Iraqi women were enrolled as controls ma
... Show MoreThis study aimed to find relationship between thymidine kinase-1 (TK-1) as tumor marker and total antioxidant capacity (TAC) in Iraqi children patients with thrombocytopenia and with thrombocytosis. The present study conducted 60 children patients (30 patients with idiopathic thrombocytopenia purpura (ITP) and 30 patients with thrombocytosis caused by leukemia) attending the Children Fever Hospital in the Medical City / Baghdad, and 30 healthy children as a control group. All study groups were with range ages (1-15) years, and they were diagnosed by assay of platelet count, Prothrombin Time (PT), and partial Thromboplastin Time (PTT). The results shown elevation in plasma TK-1
... Show MoreRheumatoid arthritis (RA) is one of the autoimmune diseases characterized by the synovial inflammation which causes organs and tissues damage especially synovial tissues and joints. The study included 50 serum samples from patients with rheumatoid arthritis (RA) when compared with 50 serum samples from healthy individuals as control with age range 35 – 60 years (41.3 ± 2.4 years vs. 41.0 ± 2.0 years, respectively). ELISA technique was used to assess the Anti-cyclic citrullinated peptide IgG antibody (anti-CCP IgG Ab) level, anti-rheumatoid factor IgG antibody (anti-RF IgG) and anti-Cytomegalovirus (anti-CMV IgG) antibodies frequencies in the studied groups. The present findings demonstrated that all RA patients have 100% seropositive fr
... Show MoreAsprosin was a novel adipokine that was released by white adipose tissue. It was activated by fasting and attracted to the liver, which allowed the liver to rapidly release glucose into the bloodstream. White adipose tissue was the source of asprosin. When people go on a fast, their blood sugar levels drop, which causes levels of the hormone asprosin to rise. It does this by binding to a G-protein-coupled receptor in the liver known as OR4M1, which in turn activates a cascade that involves the G -protein-cAMP-PKA pathway. Because of this, the glucose that is stored in the liver is released. We anticipate that by investigating the changes that occur in asprosin levels in hypothyroidism patients, we will be able to make a significant
... Show MoreObjectives: Many medication errors occur in the hospital, and these can endanger patients. The purpose of this study was to evaluate the incidence of medication errors in hospitalized patients, and to categorize the most frequent types of errors, and to asses the possible measures that may prevent the occurrence of such errors.
Methods: A prospective, exploratory, and evaluative study, using direct observation method to detect medication errors in adult hospitalized patients in medical and surgical units in Baquba Teaching Hospital- Diyala-Iraq.. The files of 299 patients had been reviewed from July 2009 to September 2009, including medication orders and treatment sheets to detect existing errors. The detected errors were recorded and
One hundred of dialysis patients' mean age ( 51.18±8.28) years and one hundred healthy control group , where carried out from different hospitals of Baghdad city , during the period between November /2012 until March/2013. Blood samples were collected before dialyzing for estimation the concentration of urea, creatinine, uric acid, random blood sugar , calcium and cholesterol by enzymatic method detected spectrophotometerically.
The aim of this study is to determine concentration of urea, creatinine, uric acid, RBS , calcium and cholesterol in hemodialysis patients in Baghdad . The results showed that there were highly significant increases (P<0.01) in the mean of creatinine ,
... Show MoreThis study was for searching for Cholera Bacteria serotype which causes epidemiology Cholera in the 2007 in a fast method which contains (Rapid Visual Test) (Crystal V.C.) which was used for the first time in Iraq to diagnosis of Cholera Bacteria & compared with the traditional bacteriology method. The Cholera disease is one of the most dangerous epidemiological diseases which lead to death with a percentage of (50 – 70) % in the severe cases for untreated patients . For this purpose, 100 samples of stool from the patients from a (13) hospitals in Baghdad Governorate in the period from August to the end of December. The Cholera was diagnosis in two methods, 1st method was the fast method using the nitrocellulose which is coated with anti-
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