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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
Tue Sep 01 2020
Journal Name
Al Kut Journal Of Economics And Administrative Sciences
Economic Analysis of The Most Important Factors Affecting Sustainable Agricultural Development in Iraq for The Period 2000-2017
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Publication Date
Tue May 02 2023
Journal Name
Social Science Journal
An Investigation of Microstructure Analysis for World Health Organizatioan Speeches during Covid-19 Pandemic: Adopted Van Dijk Theory
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Publication Date
Thu Aug 22 2019
Journal Name
International Journal Of Advancement In Social Science And Humanity
A CRITICAL DISCOURSE ANALYSIS STUDY OF PERSUASION IN THE LANGUAGE USED IN THE ELECTION CAMPAIGNS BY AMERICAN PARLIAMENTS
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BN Rashid

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Publication Date
Fri Jan 01 2021
Journal Name
Microchemical Journal
A flow analysis system integrating an optoelectronic detector for the quantitative determination of active ingredients in pharmaceutical formulations
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Publication Date
Fri Jan 01 2021
Journal Name
Microchemical Journal
A flow analysis system integrating an optoelectronic detector for the quantitative determination of active ingredients in pharmaceutical formulations
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Scopus (24)
Crossref (17)
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Publication Date
Sat Oct 19 2024
Journal Name
Baghdad Science Journal
Synthesis, Characterization and Studying Thermal Analysis for Complexes of Some Metal Ions and Determining Their Activity as Antioxidants
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وفقأ للدراسات السابقة تم تحضير ليكاند آزو جديد (ن-(3-اسيتايل-2-هيدروكسي-5-مثيل-فنيل)ن-(4-كاربوكسي-سايكلوهكسيل مثيل)-ملح الدايازونيوم) وبعد التحقق من الصيغة المقترحة وفق نتائج التحاليل وبعد استخدام الليكاند لتحضير سلسلة ن المعقدات باستخدام نسب مولية متساوية (1:1) من الليكاند وتفاعلها مع كل من املاح المنغنيز والكوبلت والنيكل والنحاس والخارصين وبعد التحقق وفق تقنيات التحاليل الطيفية والتشخيصية(الاشعة فوق البنف

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Publication Date
Wed Aug 01 2018
Journal Name
Journal Of Economics And Administrative Sciences
Analysis the Relationship between the Standards of Credit Assessment and Non-Performing Loans at the Gulf Commercial Bank
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This paper aims to identify the approaches used in assessment the credit applications by Iraqi banks, as well as which approach is most used. It also attempted to link these approaches with reduction of credit default and banks’ efficiency particularly for the Gulf Commercial Bank. The paper found that the Gulf Bank widely relies on the method of Judgment Approach for assessment the credit applications in order to select the best of them with low risk of default. In addition, the paper found that the method of Judgment Approach was very important for the Gulf Bank and it driven in reduction the ratio of credit default as percentage of total credit. However, it is important to say that the adoption of statistical approaches for

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Publication Date
Wed Aug 01 2018
Journal Name
Journal Of Economics And Administrative Sciences
(( Technology's role Time driver Activity-based costing at Provide of information for economic units for customer profitability analysis ))
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  The economic units always sought to maintain its market position and Trchinh the technology management and modern methods that will support success factors .vdila about it has become a customer and one profitability analysis of the most practical way benefit of economic units as modern management focus their attention on achieving this satisfaction, as the customers make up the axis of the success of every organization and that there are many government units aiming to profit directs attention to customers and the number of these units increased continuously. The administration used the customer profitability analysis in order to obtain information to assist in making and decision-making process. How to use modern tec

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Publication Date
Sat Jan 01 2022
Journal Name
Journal Of Engineering
A Five Variable Refined Plate Theory For Thermal Buckling Analysis Uniform And Nonuniform Of Cross-Ply Laminated Plates
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This research is devoted to investigating the thermal buckling analysis behaviour of laminated composite plates subjected to uniform and non-uniform temperature fields by applying an analytical model based on a refined plate theory (RPT) with five unknown independent variables. The theory accounts for the parabolic distribution of the transverse shear strains through the plate thickness and satisfies the zero-traction boundary condition on the surface without using shear correction factors; hence a shear correction factor is not required. The governing differential equations and associated boundary conditions are derived by using the virtual work principle and solved via Navier-type analytical procedure to obtain critica

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Publication Date
Wed Oct 01 2025
Journal Name
Chinese Journal Of Analytical Chemistry
Synthesis, characterization, antioxidant and bioactivity assessment, and thermodynamic analysis of metal ion complexes using a novel azo dye
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