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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
Sat Feb 01 2025
Journal Name
Saudi Medical Journal
Spectrum and classification of ATP7B variants with clinical correlation in children with Wilson disease
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Publication Date
Wed Jun 07 2023
Journal Name
Journal Of Educational And Psychological Researches
The Impact of the Sowt Strategy on the Development of Systemic Intelligence among Students of the Ibn Rushd College of Education for the Humanities
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The aim of the current research is to identify the impact of the SWOT strategy on developing systemic intelligence among students of the Ibn Rushd College of Education for Human Sciences University of Baghdad / College of Education Ibn Rushd for Human Sciences. The current research community consists of (8590) male and female students, divided into (7) departments. The current research relied on one of the partial control designs, which is the design of non-random groups: experimental group and a control group with a pre and post-test. As for the research tool, It was represented by Tourmanin’s Systemic Intelligence Scale (2012) of (50) items that measure the eight components of systemic intelligence. The results of the Mann Whitney te

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Publication Date
Mon Feb 28 2022
Journal Name
Journal Of Educational And Psychological Researches
The Impact of the Strategy of Cooperative Integration of Fragmented Information in the Acquisition of Physical Concepts and Science Processes among Fourth Scientific Students
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The current research aims to reveal the impact of the strategy of cooperative integration of fragmented information in the acquisition of physical concepts and science processes among fourth scientific students through the null hypotheses:

1- There is no statistically significant difference at the level of significance (0.05) between the average grades of female students of the experimental group studying physics according to the strategy of cooperative integration of fragmented information and those who follow the traditional method in the test of acquiring physical concepts.

2-There is no statistically significant difference at the level of indication (0.05) between the average grades of female students of the experimen

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Publication Date
Wed Aug 04 2021
Journal Name
International Journal Of Development In Social Science And Humanities
Dominant Ideology in Orwell’s Novel “Animal Farm”: A Critical Discourse Analysis of Selected Extracts
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MRY *Khalid Sh. Sharhan, *Naseer Shukur Hussein, INTERNATIONAL JOURNAL OF DEVELOPMENT IN SOCIAL SCIENCE AND HUMANITIES, 2021

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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
Sun Jun 12 2011
Journal Name
Baghdad Science Journal
Analysis of grape fruits and grape seed for their major , minor and trace elemental contact by XRF technique
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Grapes and grape seeds are important samples employed for environmental medical studies . The air of this work was to identify and concentration calculation of the elements in grapes fruit and thier seeds by using X-Ray fluoresces technique (XRF) . Samples were collected from Abo Ghraib of Baghdad city ,the grape seeds were obtained from those samples . Both samples were taken under experimental procedure to obtain the sample which were ready for analysis . The samples were then submitted to experimental conditions using a radiation source and then samples were applied for counting analysis shows the elements Na , Mg , Al , Si , P , S , Cl , K , Ca , and Sr as major components of the samples. Fe , Sr , I , Ba and V were

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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
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
Thu Dec 31 2020
Journal Name
Journal Of Accounting And Financial Studies ( Jafs )
Application of data content analysis (DEA) technology to evaluate performance efficiency: applied research in the General Tax Authority
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The aim of the research is to use the data content analysis technique (DEA) in evaluating the efficiency of the performance of the eight branches of the General Tax Authority, located in Baghdad, represented by Karrada, Karkh parties, Karkh Center, Dora, Bayaa, Kadhimiya, New Baghdad, Rusafa according to the determination of the inputs represented by the number of non-accountable taxpayers and according to the categories professions and commercial business, deduction, transfer of property ownership, real estate and tenders, In addition to determining the outputs according to the checklist that contains nine dimensions to assess the efficiency of the performance of the investigated branches by investing their available resources T

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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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