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.
Cleft / palate is one of the common congenital deformities in craniofacial region, associated with different types of dental anomalies like (Tooth agenesis, impaction, and supernumerary teeth) with marked changes in palatal dimensions. This study aimed to determine the prevalence of teeth agenesis and dental anomalies in cleft lip/palate patients using CBCT, and to compare the palatal dimension of cleft group with control subjects. Twenty-eight cleft cases collected during the period from 2015 to 2022, CBCT images evaluated, the study sample classified into two groups (14 bilateral and 14 unilateral cleft lip/palate) and the non-cleft control group (14 CBCT images). The presence of dental anomalies was assessed in relation to clef
... Show MoreBackground: The ultimate purpose of this prospective study is to estimate and measure swelling associated with surgical extrac¬tion of impacted mandibular third molars in different four post-operative times and to identify the risk factors associated with determination of their risk degree. Material and Methods: In this prospective cohort study 159 consecutive cases in which removal of impacted lower third molars in 107outpatients were evaluated. Five groups of variables have been studied which are regarded as a potential factor for swelling after mandibular third removal which will enable the surgeon to predict and counsel high risk patients in order to offer a preventive strategy. Results: Facial measurements were carried out on 1st, 2
... Show MoreBackground: Ischemic heart disease is a major cause of the diastolic heart failure. Risk of heart failures was increased with microvascular coronary disease, which is characterized by left ventricular stiffness with impaired relaxation and reduced compliance. Aim of this study is to estimate the effect of the severity of myocardium ischemia on the left ventricle ejection fraction and left ventricular volume using SPECT with 99mTc MIBI and to compare the results with the echocardiography. The study included 117 subjects with ischemic heart disease were examined using SPECT and echocardiography techniques. The following
... Show MoreDemodex spp. mites are external obligate parasites; they are transmitted between hosts through direct contact, and may induce several dermatological symptoms when found in large numbers. However, these symptoms may be similar to other commonly known diseases; this often leads dermatologists to neglect the pathogenic role of these mites. Therefore, a better diagnosis is recommended in order to avoid mistreatment. The aim of this study was to investigate the correlation between Demodex mites and dermatological diseases. Infestation rates in patients suffering from acne, rosacea, folliculitis, and psoriasis were compared with asymptomatic patients, along with the mites’ relation to gender, age, personal hygiene, tim
... Show MoreCoronary heart disease (CHD) is the leading cause of death in United State (U.S.). Controlling of modifiable risk factors such as smoking, hypertension (HT), diabetes mellitus (D.M.), dyslipidemia, physical inactivity & obesity will prevent other serious cardiovascular complications
Introduction: Selenium is an essential trace element involved in different physiological functions of the human body. An inverse relationship between serum selenium levels and cervical intraepithelial neoplasia has been reported. cervical intraepithelial neoplasia is regarded as a potentially premalignant transformation of squamous cells of the cervix. Objectives: To evaluate the relationship between the serum level of selenium and cervical intraepithelial neoplasia. Methods: A case-control study was conducted at Baghdad Teaching Hospital and Iraqi National Cancer Research Center in the University of Baghdad during the period from July 2021 to July 2022. A convenient sample of 100 women was enrolled in the current study and included
... Show Moreβ-thalassaemia consists of 3 chief forms: thalassaemia primary (other called "cooley's Anaemia" or "Mediterranean durability Anaemia"), thalassaemia intermedia or thalassaemia minor also frequent termed "β-thalassaemia carrier", "β-thalassaemia trait" however, "heterozygous β-thalassaemia". separately from the rare magisterial forms, problem along β-thalassaemia essential are homozygotes or made heterozygotes because B0 and B+ genes, problem including thalassaemia intermedia are typically homozygotes and compound heterozygotes then subjected with thalassaemia minor are broadly heterozygotes.
In this study, we t
... Show MoreThe inflammatory reactions cause nasal polyposes (NPs), which contained the paranasal sinuses and the nasal mucous membrane. They consist of recurrent multiple masses originating in the paranasal sinuses then spread from the middle meatus to the nasals cavity, which leads to the nasal blockage that causes the restriction of airflow to the olfactory area. This study aims at clarifying the role of IL-12RB2 polymorphism by using PCR technology in nasal mucosal stem cells in nasal polyps of Iraqi patients and use it as a biomarker. Fifty-eight cases of this study are referred to as nasal surgery, which selected from Dept.of Otolaryngology, Baghdad City, Iraq from May 2013 to January 2014. They were grouped into Control group (022 samples
... Show MoreCytokines and chemokines are small-secreted proteins involved in many aspects of cell development, differentiation, and activation functions. A prominent characteristic of these molecules is their effect on the immune system in relation to the development of cell trafficking and immune tissues and organs. Furthermore, they play an important role in initiating and coordinating the organized and sequential recruitment and activation of cells into Mycobacterium tuberculosis-infected lungs. We aimed to evaluate the levels of interleukin -17 (IL-17) and the chemotactic chemokine (C-C motif) ligand 5 (CCL5) in the sera of pulmonary tuberculosis (PTB) patients. About 90 subjects were included, involving 5
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