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.
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In this research, the focus was placed on estimating the parameters of the Hypoexponential distribution function using the maximum likelihood method and genetic algorithm. More than one standard, including MSE, has been adopted for comparison by Using the simulation method
Abstract
The current study aims to evaluate levels of metabolic hormones and lipid profile in a sample of growth hormone (GH) deficient patients. Seventy five GH deficient patients and twenty healthy subjects used as control group have been participated in this study during their attendance to the National Diabetic Center for Treatment and Research/Al-Mustansiriya University. The studied subjects’ ages were with a range (3-15 years). Blood samples were collected from the studied subjects to determine levels of basal GH, GH2 and GH3 after 1 hr and 1/30 hr provocation with clonidine, respectively; insulin like growth factor (IGF-1); levels of metabolic hormones [thyroid profile: triiodo
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Leishmania tropica is a species of flagellate parasites that infects humans and the cause of the disease cutaneous leishmaniasis, which is the most common form of leishmaniasis. It is one of the major parasites, which have high prevalence than other parasites in Iraq. The aim was to investigate the role of HLA alleles in susceptibility to cutaneous leishmaniasis infection in Baghdad in a sample of Iraqi patients. Cross sectional study (thirty Iraqi Arab Muslims patients with Leishmania tropica infection and thirty Iraqi Arab Muslims healthy persons) were participated in this study. Patients were consulted Department of Dermatology in Medical city Teaching hospital and AL Yarmook Teaching hospital for the period between March 2014 till May 2
... Show MoreAbstract A descriptive study was conducted in Al-Bashir teaching hospital in Amman city from 15th May 2004 to 15th August 2004 , in order to "Assess the adult asthmatic patients’ quality of life (QOL). Objective: This study aimed at identifying the domains of (Environmental, Physical, Daily Living Activity, Drug and Medication, Psychological , and Social), Methodology : A Purposive (Non-Probability) sample of (100) adult asthmatic patients visited the emergency department and outpatient clinic of chest department in Al-bashir hospital .A Questionnaire was constructed for the purpose of the study, and compris
Background: Dysfunction of sinoatrial node is a set of abnormal rhythms which are resulted from the sinoatrial node malfunction of the sinus node, the chief natural cardiac pacemaker. The common, and occasionally, the single method for treatment of heart arrhythmias was implantation of pacemaker, which reduce symptoms exactly occurs after implantation. Aim: To detect the role of smoking on cardiac electrophysiology parameters in sinus node dysfunction in Iraqi patients such as SNRT and AH. Methods: A cross sectional study, was conducted on 59 patient ranging between 20-50 years old and involving 35 female and 24 male patients, suffering from an unexplained symptoms of sinoatrial node dysfunction (SND). The enrolled participants were gathere
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Background: Lumbar disc degeneration (LDD) is a common musculoskeletal disorder that frequently causes low back pain (LBP). In addition to the discomfort of lower back pain, it can accompany pain in one or both legs. The lumbar spine and sacrum, consisting of five vertebrae and one bone, determine the spine's balance. Microelements are essential in bone metabolism and are associated with the prevention of osteoporosis and the alleviation of musculoskeletal pain. Objectives: To examine the correlation between lumbar spinal surgery and the concentrations of microelements, namely zinc and copper. Methods: A case-control study was conducted in Ghazi Al-Hariri Hospital in Baghdad, Iraq, during the period from October 2023 to January 2024
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Background: The appointment system is a common practice in primary health care clinics in developed countries. The patients and health care providers in the primary health care setting perceived the appointment system as an indicator of good quality service.
Objective: The aim of this study was to survey patients’ and health care providers’ attitudes towards the introduction of an appointment system and their satisfaction with the existing ‘walk-in’ system in the primary health care setting.
Subjects and Methods: A questionnaire survey was conducted included a convenient sample of 234 patients as well as 76 health care providers from two primary health care center
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The effect of mental and physical health on the feelings of subject welfare is known as health-related quality of life. The chronic obstructive pulmonary disease is a common respiratory diseases. Assessment of health-related quality of life is considered important in such chronic disease. The objective of the current study was to measure health-related quality of life in a sample of chronic obstructive pulmonary patients in AL- Diwanyia city/Iraq. This study was carried out on 150 already diagnosed COPD patients who attended to the Center of Respiratory Diseases/AL-Diwaniyah Teaching Hospital during September 2019 to January 2020. The Arabic version of St George’s Respiratory Questionnaire was used to asses
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