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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
Mon Feb 07 2022
Journal Name
Periodicals Of Engineering And Natural Sciences (pen)
Mathematical connection skills and their relationship with productive thinking among secondary school students
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Publication Date
Fri Jun 30 2023
Journal Name
Journal Of The College Of Education For Women
The Construction of the Iraqi Child in the UNICEF Reports during Covid19 Pandemic: A Critical Discourse Analysis
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The present paper aims at investigating the linguistic image portrayed by UNICEF reports on the Iraqi child from a critical discourse analysis perspective during Covid19 pandemic (2020). The paper attempts to fill a gap in research literature concerning the linguistic construction of the Iraqi child by the UNICEF reports during the critical health crisis of Covid19. Van  Leeuwen’s (2008) approach of social actor representation has been adopted for this purpose. From Van  Leeuwen’s approach, the category of determination (single determination and overdetermination) has been selected to be the main analytical tool for its high compatibility with the set of objectives put forward to figure out how such a globally effective and

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Publication Date
Tue Jul 27 2021
Journal Name
Journal Of Craniofacial Surgery
Morphometric Analysis of the Mental Foramen Variation in an Iraqi Population by Using Cone-Beam Computed Tomography
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Publication Date
Mon May 18 2026
Journal Name
Iraqi Journal For Administrative Sciences
Using the Statistical Analysis to study the important reasons of the pollution in the Iraqi Marshlands Areas
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The need for detection and investigation of the causes of pollution of the marshes and submit a statistical study evaluated accurately and submitted to the competent authorities and to achieve this goal was used to analyze the factorial analysis and then obtained the results from this analysis from a sample selected from marsh water pollutants which they were: (Electrical Conductivity: EC, Power of Hydrogen: PH, Temperature: T, Turbidity: TU, Total Dissolved Solids: TDS, Dissolved Oxygen: DO). The size of sample (44) sites has been withdrawn and examined in the laboratories of the Iraqi Ministry of Environment. By illustrating SPSS program) the results had been obtained. The most important recommendation was to increase the pumping of addit

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Publication Date
Mon Jun 01 2015
Journal Name
Journal Of The College Of Languages (jcl)
An Analysis of Textual Themes in M.A Theses and Ph. D. Dissertations Written by Iraqi EFL Learners
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The present study investigates the realization and significance of textual themes in the organizational structure of M.A theses and Ph.D. dissertations, namely: the abstracts, introductions and conclusions, since in such parts the students depend on their own expressions, styles and constructions to express different viewpoints, plans, inferences, etc. The study also investigates the similarities and differences between M.A theses and Ph.D. dissertations concerning the use of textual themes;it sets out to conduct a detailed analysis of textual themes used in such texts. In conducting such an analysis, the study adopts Halliday's (1994) approach of textual themes. The results of such an analysis have clearly shown that, in spite of the di

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Publication Date
Thu Mar 01 2012
Journal Name
Journal Of Accounting And Financial Studies ( Jafs )
Risk Analysis in Group Life Insurance: An Applied Research in the General Iraqi Insurance Company
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Insurance actions has become a task of the vital foundations on    which the international economy depends, where its presence helped in the development of economic resources in which human resource is considered the most important of these resources. Insurance companies play the biggest role in protecting this resource and minimizing the impact of the dangers that verify this condition.Human has worked hard to get rid of the dangers and its harm, and to devise many ways to prevent them. A risk management is considered within human’s creations in order to create a society with fewer negative risks impacts.

                On this basis, th

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Publication Date
Sat Oct 01 2022
Journal Name
The Egyptian Journal Of Hospital Medicine
The Impact of rs767455 and rs1061622 Polymorphisms ‎on ‎Treatment Outcomes in Iraqi Ankylosing Spondylitis ‎Patients Taking ‎Etanercept
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Background: Ankylosing spondylitis (AS) is inflammation of the sacroiliac joints and spine, associated with clinical symptoms such as pain and stiffness in the vertebral column, after which, in a considerable number of individuals, new bone growth occurs. Objective: The current research study attempted to find out whether the presence of SNPs in TNF receptor [TNFRSF1A (rs767455), TNFRSF1B (rs1061622)] encoding genes could influence patients' outcomes to etanercept in a specimen of Iraqi AS patients. Patients and methods: Sixty patients with established AS receiving only etanercept were selected to be enrolled in this research with a mean age of 40.75 ± 8.67 years, 51 patients of them were males and only 9 patients were females. Patients we

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Publication Date
Wed Feb 01 2023
Journal Name
Baghdad Science Journal
Potential Role of 8-Hydroxyguanosine and some Pro Inflammatory Cytokines as Biomarkers in Colorectal Cancer Iraqi Patients
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8-hydroxyguanosine (8-OHdG) is considered as an indicator of the oxidative stress. Pro inflammatory cytokines are critical parts of the pathophysiological processes to which treatment can be applied. The aim of this study was to evaluate 8-OHdG and pro inflammatory cytokines concentration in colon carcinoma patients. Blood samples were taken before treatment from 50 incident cases with colon cancer (stage III) admitted for health examination at the Nanakali Hospital in Erbil city with 45 healthy samples of controls with age range between 38-69 years for both groups. All studied parameters were estimated by ELISA. Participants at this study were 95 Participants ranged in age from 38 to 69 years, 50 Participants had been newly diagnosed wi

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Publication Date
Mon Dec 23 2019
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Evaluate the Protective Effect of Lactobacillus against Collateral Damage Induced by Ciprofloxacin and Levofloxacin in Iraqi Patients
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Abstract:                                                                                                                Fluoroquinolones drugs are an important class of wide

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Publication Date
Wed Aug 30 2023
Journal Name
Baghdad Science Journal
A relationship study of coronavirus (COVID-19) infection, blood groups, and some related factors in Iraqi patients
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Many studies of the relationship between COVID-19 and different factors have been conducted since the beginning of the corona pandemic. The relationship between COVID-19 and different biomarkers including ABO blood groups, D-dimer, Ferritin and CRP, was examined. Six hundred (600) patients, were included in this trial among them, 324 (56%) females and the rest 276 (46%) were males. The frequencies of blood types A, B, AB, and O were 25.33, 38.00, 31.33, and 5.33%, respectively, in the case group. Association analysis between the ABO blood group and D-dimer, Ferritin and CRP of COVID-19 patients indicated that there was a statistically significant difference for Ferritin (P≤0.01), but no-significant differences for both D-dimer and CRP.

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