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.
Objective Thalassemic patients present with multiple immune abnormalities that may predispose them to oral Candida, however this has not been investigated. The aim of this study was to assess oral candidal colonization in a group of patients with β-thalassemia major both qualitatively and quantitatively. Study design The oral mycologic flora of 50 β-thalassemia major patients and 50 age- and sex-matched control subjects was assessed using the concentrated oral rinse technique. Candida species were identified using the germ tube test and the Vitek yeast identification system. Results Oral Candida was isolated from 37 patients (74%) and 28 healthy subjects (56%; P = .04). The mean candidal count was significantly higher in thalassemic patie
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The study was carried out to detection of H.pylori in (200) patients who attended two teaching hospitals in Baghdad. The diagnosis done by Immunochromatography methods. Stools and blood samples was taken from each patient as well as other (30) healthy control matching in their age. The study included detection the Levels of Interleukin-40 and CRP in sera of patients and control. The result indicated presence of H pylori antigen in 115 cases 59 cases of males and 51 of females, Also, the result indicated increasing levels of IL-40, cholesterol, Triglycerides, Low density lipoprotein, Very Low density lipoprotein increased significantly while the level of High density lipoprotein decreased in patients sera in comparison with healthy c
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Background: psychiatric and behavioral side effects are
common in patients with epilepsy and it may represent an
intrinsic feature of the disease itself or a side effect of the
antiepileptic use. Our aim in the present study is to assess
the psychiatric side effects of Sodium Valproate and
Carbamazipine .as these drugs are the most commonly
used antiepileptic drugs in Iraq.
Methods: 80 patients with primary generalized epilepsy
on Carbamazipine and 50 patients on Sodium Valproate
were enrolled in the present study; all the patients were
assessed for any psychological disturbances using semistructural interview based on the tenth edition of the
international classification of the diseases(ICD 10)
adopte
Background: psychiatric and behavioral side effects
are common in patients with epilepsy and it may
represent an intrinsic feature of the disease itself or a
side effect of the antiepileptic use. Our aim in the
present study is to assess the psychiatric side effects of
Sodium Valproate and Carbamazipine .as these drugs
are the most commonly used antiepileptic drugs in Iraq.
Methods: 80 patients with primary generalized
epilepsy on Carbamazipine and 50 patients on Sodium
Valproate were enrolled in the present study; all the
patients were assessed for any psychological
disturbances using semi-structural interview based on
the tenth edition of the international classification of
the diseases(ICD 10) ad
Abstract:Leukemia is a cancer of early blood forming cells. Most of them are cancers of white blood cells , however some leukemias start in other blood cell types.Electrolytes have modulatory effects on several biological mechanisms in the body namely as stabilizers,element of structures, essential element for hormonal function and also co-factors for a number of enzymes.In this study serum electrolytes levels were measured in patients with acute leukemia (AL) disorders before and after chemotherapy(anthracycline, doxorubicin, cytarabine ,prednisone, vincristine and doxorubicin) during one month and compared with that of control group. Blood samples were obtained from (43) patients (28 males and 15 females) aged (15-55)years;juset before an
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Background: Chronic kidney disease is a condition that results from an indefinite change in the structure and function of the kidneys. A slow, steady progression characterizes it and is irreversible. Objectives: This study aims to evaluate the findings of certain biochemical and hematological tests in samples from Iraqi CKD patients. Methods: This study included 90 subjects, where 70 patients with chronic kidney disease and 20 healthy individuals. Blood samples were collected from the patients during their visits to Ghazi Al-Hariri Surgical Specialties' Hospital- Medical City, Baghdad, Iraq. Age, sex and body mass index were assessed for each participant followed by renal function tests [serum blood urea, creatinine, uric acid a
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Pseudomonas aeruginosa produces an extracellular bioï¬lm matrix that consists of nucleic acids, exopolysaccharides, lipid vesicles, and proteins. Alginate, Psl and Pel are three exopolysaccharides that constitute the main components in biofilm matrix, with many biological functions attributed to them, especially concerning the protection of the bacterial cell from antimicrobial agents and immune responses. A total of 25 gentamicin-resistant P. aeruginosa selected isolates were enrolled in this study. Biofilm development was observed in 96% of the isolates. In addition, the present results clarified the presence of pelA and pslA in all the studied isolates. The expression of these genes was very low. Even though all biof
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The pathogenicity resulting from Staphylococcus aureus infection has remarkable importance as one of the community-associated bacterial infections, due to the virulent ability of these bacteria to produce biofilms. This study was designed to detect biofilm production in clinical isolates from samples of wounds and urinary tract infections. The expression levels of the icaA gene that is responsible of slime layer production in biofilms was compared in isolates with different biofilm producing capabilities. Fifty seven samples that included 32 samples from urine and 25 samples from wounds were collected from Alwasti Hospital, Al-Kindi Teaching Hospital, and Alzahraa Clinic, Baghdad, Iraq. The bacteria was identified accor
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