Preferred Language
Articles
/
ijs-7307
Identification of genetic mutations associated with autism in GABRB3 gene in Iraqi autistic patients
...Show More Authors

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.

View Publication Preview PDF
Quick Preview PDF
Publication Date
Fri Nov 24 2023
Journal Name
Iraqi Journal Of Science
Biochemical Study on Pleural Effusion Fluid in Tuberculous and non-Tuberculous in Iraqi Patients
...Show More Authors

Seventy exudative lymphocytic pleural fluid specimens of patients with suspected tuberculous pleural effusion submitted to the National Reference Laboratory of tuberculosis/Baghdad from October 2012 to February 2013. These effusions were due to tuberculosis pleuritis (n=12) and non-tuberculosis pleuritis (n=58). The following parameters were analyzed: protein concentration, glucose concentration, lactate dehydrogenase (LDH) concentration and adenosine deaminase activity (ADA). As a result, the protein concentration was higher in TPE patients (8.80 ± 0.89 g/dl) than it's concentration in non-TPE patients (7.61 ± 0.54 g/dl), as well as LDH concentration was (3366.58 ± 284.28 U/L) in TPE patients and (3024.12 ± 116.84 U/L) in non-TPE pa

... Show More
View Publication Preview PDF
Publication Date
Thu Jan 16 2025
Journal Name
Journal Of Baghdad College Of Dentistry
Dental anomalies associated with malocclusion among 13 year old Kurdish students
...Show More Authors

Background: The aim of this national oral health survey was to determine the prevalence of malocclusions due to some anomalies in the dentition among the 13 years old Kurdish students in sulaimani intermediate school. Materials and methods: The total sample was 950 (455 males and 495 females) which assessed by diagnostic set and special instrument. The clinical examination was mainly based on the definitions of Björk et al. Some variables were recorded as present or absent sometimes denoting the tooth or the teeth involved in malocclusion and their distribution according to the whole sample. Results: The results showed that 1)The most common extracted tooth was the mandibular first molar (2.9%). 2) At this age group the most common partial

... Show More
View Publication Preview PDF
Publication Date
Thu Jan 30 2020
Journal Name
Al-kindy College Medical Journal
The Actual Practice of Breast Self-Examination among Sample of Iraqi Patients with Breast Cancer
...Show More Authors

Background : To assess the actual practice of breast self-examination (BSE), as an early detection tool for breast cancer, among a sample of patients affected with breast cancer in Iraq.Methods: A random sample of 200 female patients with breast cancer was analyzed to evaluate the extent of their actual practice of breast self-examination before the diagnosis of the disease.  The examined variables included the age of the patients, marital status, education, occupation, smoking habit, family history of cancer, frequency of gravidity, parity and abortions. Results: The age of patients ranged from (24-70) years with a mean age of 48 years. The highest frequency of the examined sample

... Show More
View Publication Preview PDF
Crossref (1)
Crossref
Publication Date
Mon Jan 01 2018
Journal Name
Research Journal Of Pharmacy And Technology
Molecular Genetic variability in the D-loop region for females with Breast Cancer and the effect of the Chemotherapy
...Show More Authors

View Publication
Scopus (6)
Scopus Crossref
Publication Date
Tue Aug 02 2022
Journal Name
Ijhs
The association between polymorphism of TCF7L2 gene rs12255372 G/T and type 2 diabetes mellitus in Iraqi women suffering from menopause
...Show More Authors

Type 2 diabetes mellitus (T2DM) became the most prevalent health problem. Almost half of the world's people are ignorant that have diabetes. Menopause occurs as an important alteration in women through which take place the change in sex hormones, distribution in fat،s body, and metabolism, altogether which participate in the metabolism disease such as type 2 diabetes mellitus. Several studies have appeared the association between the TCF7L2 gene and different diseases like type 2 diabetes mellitus (T2DM). This study aimed to detect the relation of the genetic variation polymorphism for the TCF7L2 gene (rs12255372 G/T) in Iraqi women menopausal with T2DM. The outcomes indicated the increased levels of biochemical characteristics including H

... Show More
Publication Date
Fri Sep 30 2022
Journal Name
Iraqi Journal Of Science
Isolation and Identification of Novel Streptococcus pluranimalium Isolated from Children with Upper Respiratory Infections in Mosul Hospitals, Iraq
...Show More Authors

    Streptococcus pluranimalium was first isolated in 1999. Recently, several case reports have been published that have revealed that S. pluranimalium can infect humans as well. The pathogenicity and pathophysiology of this pathogen is poorly studied and its characteristics are not well known. In this study, S. pluranimalium was first isolated and then identified from infants and children who suffered from upper respiratory infections. 90 samples were collected from nasopharyngeal cavity. Among them, 83 Streptococcus spp. isolates were identified. 3 out of which were biochemically and molecularly identified as S. pluranimalium. 16S rRNA sequencing based identification revealed that all iso

... Show More
View Publication Preview PDF
Scopus Crossref
Publication Date
Thu Jan 16 2025
Journal Name
Journal Of Baghdad College Of Dentistry
The value of lateral cephalometric image in sex identification
...Show More Authors

Background: Determination of sex and estimation of stature from the skeleton is vital to medicolegal investigations. Skull is composed of hard tissue and is the best preserved part of skeleton after death, hence, in many cases it is the only available part for forensic examination. Lateral cephalogram is ideal for the skull examination as it gives details of various anatomical points in a single radiograph. This study was undertaken to evaluate the accuracy of digital cephalometric system as quick, easy and reproducible supplement tool in sex determination in Iraqi samples in different age range using certain linear and angular craniofacial measurements in predicting sex. Materials and Method The sample consisted of 113of true lateral cepha

... Show More
View Publication Preview PDF
Publication Date
Sun Jul 01 2018
Journal Name
Current Research In Microbiology And Biotechnology
Detection of anti-Helicobacter pylori in patients with Multiple Sclerosis
...Show More Authors

To determine the relationship between Helicobacter pylori infection and Multiple Sclerosis (MS) disorder, 20 patients with MS aged (25-60) years have been investigated from the period of 2016/12/1 to 2017/3/1 and compared to 15 apparently healthy individuals. All study groups were carried out to measure anti H.pylori IgA and H.pylori IgG antibodies by enzyme linked immunosorbent assay (ELISA) technique. There was a significant elevation (p<0.05) in the concentration of anti H.pylori IgG and IgA antibodies (Abs) compared to control group, and there was no significant difference (p>0.05) in the concentration of IgA and IgG (Abs) of H.pylori according to gender, and there was no significant difference (p>0.05) in the concentration of IgA and I

... Show More
Publication Date
Sat Dec 30 2023
Journal Name
Al-kindy College Medical Journal
Assessment of Serum Metalloendopeptidase level in Patients with Double Diabetes
...Show More Authors

Background: Double diabetes is the term used to describe situations in which a patient exhibits characteristics that are a combination of type 1 and type 2 Diabetes Mellitus. Metalloendopeptidase or Neprilysin is membrane-bound metallopeptidase. It has a wide range of physiological function and a variety of substrates. It has a significant impact on the proteolytic functions of the kidney, cardiovascular health, immunological response, cell proliferation, and fetal development. It also has a preventative effect on the onset of type 2 diabetes, obesity, and cancer.

Objective: The study aims to assess the level of MEP in patients wi

... Show More
View Publication Preview PDF
Scopus (5)
Crossref (3)
Scopus Crossref
Publication Date
Wed Feb 08 2023
Journal Name
Iraqi Journal Of Science
Evaluation of Some Immunological Markers in Patients with Behcet’s Disease
...Show More Authors

The local study were selected 70 Iraqi Arab Patients (39 females and 31 males), who referred to HLA laboratory in teaching laboratories in Baghdad medical city from April 2009 – May 2010 were diagnosed with Behcete's disease, C-reactive protein concentration(CRP) was evaluated by ELISA technique, anti-nuclear antibody (ANA) and anti-neutrophil cytoplasmic antibody (ANCA) were evaluated by Indirect immunofluorescence technology. The result showed significant differences (P<0.05) of CRP concentration in patients group compared with control, negative antinuclear nuclear antibody in all cases while ANCA was positive in 8.5% of patients with type P (PANCA). These results lead to suggest that ANCA auto-antibody may have a role in triggeri

... Show More
View Publication Preview PDF