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Molecular Analysis of CYP21A2 Gene Mutations among Iraqi Patients with Congenital Adrenal Hyperplasia
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Congenital adrenal hyperplasia is a group of autosomal recessive disorders. The most frequent one is 21-hydroxylase deficiency. Analyzing CYP21A2 gene mutations was so far not reported in Iraq. This work aims to analyze the spectrum and frequency of CYP21A2 mutations among Iraqi CAH patients. Sixty-two children were recruited from the Pediatric Endocrine Consultation Clinic, Children Welfare Teaching Hospital, Baghdad, Iraq, from September 2014 till June 2015. Their ages ranged between one day and 15 years. They presented with salt wasting, simple virilization, or pseudoprecocious puberty. Cytogenetic study was performed for cases with ambiguous genitalia. Molecular analysis of CYP21A2 gene was done using the CAH StripAssay (ViennaLab Diagnostics) for detection of 11 point mutations and >50% of large gene deletions/conversions. Mutations were found in 42 (67.7%) patients; 31 (50%) patients were homozygotes, 9 (14.5%) were heterozygotes, and 2 (3.2%) were compound heterozygotes with 3 mutations, while 20 (32.3%) patients had none of the tested mutations. The most frequently detected mutations were large gene deletions/conversions found in 12 (19.4%) patients, followed by I2Splice and Q318X in 8 (12.9%) patients each, I172N in 5 (8.1%) patients, and V281L in 4 (6.5%) patients. Del 8 bp, P453S, and R483P were each found in one (1.6%) and complex alleles were found in 2 (3.2%). Four point mutations (P30L, Cluster E6, L307 frameshift, and R356W) were not identified in any patient. In conclusion, gene deletions/conversions and 7 point mutations were recorded in varying proportions, the former being the commonest, generally similar to what was reported in regional countries.

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Publication Date
Sun Dec 28 2025
Journal Name
Journal Mustansiriyah Of Sports Science
Self-Efficacy and its Relationship to Psychological Adjustment among Table Tennis Players with Disabilities Special Needs
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The introduction and importance of the research included that physical education and its various activities are important for the disabled. The exercise of physical activities by the disabled effectively contributes to raising their level of fitness and reducing diseases caused by lack of movement. Disabled people often suffer from psychological and social problems, and this feeling may be accompanied by a high level of anxiety, a lack of self-esteem and a loss of self-confidence. Psychological adaptation is one of the concepts of sports psychology interconnected with the psychological climate, as the process that the player seeks to meet his demands and needs. Adaptation includes the pursuit of emotional balance between the individual play

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Publication Date
Sun Jul 31 2022
Journal Name
Iraqi Journal Of Science
Gentamicin Variably Affects amrZ and rhl gene Expression in Swarmer Cells of Pseudomonas aeruginosa
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       Swarming is one of the most important virulence factors used by bacteria to invade new sites. This study aimed to test the effects of gentamicin on swarming motility of Pseudomonas aeruginosa, both phenotypically and molecularly. The present results revealed that 11/25 isolates had gentamicin MIC of 1024 µg/ml.  However, gentamicin at sub-minimal inhibitory concentration significantly (P< 0.05) reduced the diameter of swarming in all P. aeruginosa isolates. Noticeably the mean and median swarming diameter before treatment with gentamicin 5.557 and 5.816 cm respectively had significantly (P < 0.001) reduced to 0.871 and 0.766 cm respectively. At the molecular level, amrZ (a global regulator of multiple genes) and

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Publication Date
Wed Feb 12 2014
Journal Name
In Vitro Cellular &amp; Developmental Biology - Plant
Overexpression of a tobacco osmotin gene in carrot (Daucus carota L.) enhances drought tolerance
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Osmotin and osmotin-like proteins belong to the PR-5 pathogenesis-related group of proteins and are induced in response to various types of biotic and abiotic stresses in several plant species. Carrot was transformed with a tobacco osmotin gene that encodes a protein lacking the vacuolar-sorting motif that is composed of a 20-amino-acid sequence at the C-terminal end, under the control of the cauliflower mosaic virus 35S promoter, using Agrobacterium-mediated transformation. Transgene integration and expression were confirmed by Southern and western blot analyses, and three selected transgenic lines were evaluated for their ability to tolerate drought stress. Under drought stress conditions, all transformants exhibited slower rates of wilti

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Publication Date
Sun Feb 26 2023
Journal Name
Biomedicine
Polymorphism in SNP rs972283 of the KLF14 gene and genetic disposition to peptic ulcer
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Introduction and Aim: Kruppel Like Factor 14 (KLF14) gene plays an important role in metabolic illnesses and is also involved in the regulation of many other biological processes. This study's objective was to determine whether or not the KLF14 single-nucleotide-polymorphism (SNP) known as rs972283 was linked to an increased risk of peptic ulcer disease in the population that was being investigated.   Materials and Methods: Participants in this study included 71 people who had been diagnosed with peptic ulcers and 50 people who were considered to be healthy controls. In order to genotype the KLF14 SNP rs972283, an amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) was carried out, and the PCR results were

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Publication Date
Fri Mar 29 2024
Journal Name
Iraqi Journal Of Science
Involvement of Total Antioxidant Activity and eNOS Gene rs1799983/ rs2070744 Polymorphisms in Breast Carcinogenesis
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Globally, breast cancer is the common malignancy affecting women and understanding its associated molecular events could help in disease prevention and management strategies. The present study was set to investigate an association between total antioxidant capacity (TAC) and endothelial nitric oxide synthase (eNOS) polymorphisms with breast cancer. For this purpose, 100 subjects were participated in this work, including 50 female patients diagnosed with breast cancer recruited from Oncology hospital, Baghdad - Iraq and 50 healthy women as a control group. The concentration of antioxidants was measured in the serums collected from blood samples of breast cancer patients and healthy controls. While eNOS SNPs (rs1799983, G894T and rs2070744, T

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Publication Date
Sat Nov 10 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
Effect of Long Term Exposure to Sodium Nitrite on Gene Responsible for DNA Repair
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Objective: The aim of this study is to detect the effect of continuous exposure to Sodium Nitrite on 8-oxoguanine
DNA glycosylase (OGG1) gene which responsible on DNA repairs. DNA repair play a major role in maintaining
genomic stability when DNA exposure to damage. Genomic stability is very important for keeping body cells
healthy and to prevent many types of tumor development. Many genes are responsible for this job; one of them is
OGG1 gene.
Methodology: In current study two groups of mice were chronically exposed to sodium nitrite for six months and
eighteen months while third group was used as a control. Then sizes of OGG1 were estimated.
Results: The results exhibited in the unexposed (control) mice had two dif

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Publication Date
Fri Aug 29 2014
Journal Name
American Journal Of Pharmacological Sciences
Efficacy and Safety of Ranibizumab Intravitreal Injections versus Laser Photocoagulation in Patients with Diabetic Macular Edema
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Publication Date
Fri Jun 01 2012
Journal Name
J Med J
Relationship of seminal biochemical parameters and serum reproductive hormones with sperm function tests in asthenospermic patients
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Aim: The aim of this study is to determine the correlation between levels of certain seminal biochemical parameters and serum reproductive hormones, on the one hand, and sperm function tests, on the other hand, in asthenospermic patients. Patients and Methods: Sixty asthenospermic patients and twenty fertile men as a control group were included in this study. Semen samples were collected to perform seminal fluid analysis. Total protein, cholesterol, calcium, creatine kinase, and fructose were measured in the seminal plasma. Blood samples were collected for hormonal assay of serum reproductive hormones: testosterone, prolactin, luteinizing hormone, and follicle-stimulating hormone. Results: The results revealed a significant positive correla

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Publication Date
Wed Jun 01 2016
Journal Name
Journal Of Economics And Administrative Sciences
Box and Jenkins use models to predict the numbers of patients with hepatitis Alvairose in Iraq
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The time series of statistical methods mission followed in this area analysis method, Figuring certain displayed on a certain period of time and analysis we can identify the pattern and the factors affecting them and use them to predict the future of the phenomenon of values, which helps to develop a way of predicting the development of the economic development of sound

The research aims to select the best model to predict the number of infections with hepatitis Alvairose models using Box - Jenkins non-seasonal forecasting in the future.

Data were collected from the Ministry of Health / Department of Health Statistics for the period (from January 2009 until December 2013) was used

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Publication Date
Wed Sep 14 2016
Journal Name
Journal Of Baghdad College Of Dentistry
Significance of Salivary miRNA 21 Determined by Real Time PCR in Patients with Squamous Cell Carcinoma
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Background: Salivary biomarkers, a non-invasive alternative method to serum and tissue based biomarkers and it is consider as an effective modality for early diagnosis. Salivary microRNA 21, a nucleotide biomarker, was reported to increase in patients with oral squamous cell carcinoma. This study was conducted to measure the fold change of microRNA 21 in stimulated saliva and to study its association with smoking and occurrence of oral squamous cell carcinoma. Materials and methods: A 20 patients with oral squamous cell carcinoma who used to be smokers was included in addition to 40 control subjects (20 smokers and 20 non- smokers health looking subjects). Stimulated saliva was collected under standardized condition. Salivary microRNA 21 wa

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