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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 Apr 01 2024
Journal Name
Indonesian Journal Of Chemistry
Synthesis, Structure and Biological Activity Studies of New Metal Ion Complexes Based on 3-[(3-Hydroxynaphthalene-2-yl-ethylidene)-hydrazono]-1,3-dihydro-indol-2-one
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In the present study, a novel ligand (L) made of 2-hydroxynaphthaldehyde and 3-hydrazone-1,3-dihydro-indole-2-one(3-[(3-hydroxynaphthalen-2-yl-ethylidene)-hydrazono]-1,3-dihydro-indol-2-one). The ligand was characterized by FTIR, UV-vis, mass, 1H-NMR, 13C-NMR, and CHN elemental analysis. New complexes of this ligand were created by treating methanol and a drop of DMF solution of the produced ligand with the hydrated metal salts of Mn(II), Co(II), Ni(II), Cu(II), and Zn(II) in a molar ratio of 2:1 (L:M). As a result, complexes have been emerged and identified FTIR, UV-vis, C.H.N., chloride-containing, molar conductance, magnetic susceptibility, and atomic absorption. The characterization result for each complex indicated complexes wi

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Publication Date
Thu Jul 24 2025
Journal Name
Desalination And Water Treatment
Removal of lead, cadmium, and copper from wastewater using Cinnamon bark waste to introduce it as a value-added product: Removal, kinetics and thermodynamics study
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Publication Date
Sun Dec 01 2019
Journal Name
Journal Of Accounting And Financial Studies ( Jafs )
Cost technique based on ABCII specifications and its effect in the Implementation of contracting contracts: Applied research in Al-Mansour general company for construction contracting
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The problem of research was to identify after the use of cost technology based on specifications in the validity of determining and measuring the costs of the implementation of contracting, by applying to al-Mansour General Construction Contracting Company as an appropriate alternative to the traditional costing system currently adopted, which is characterized by many shortcomings and weaknesses Which has been reflected in the validity and integrity of the calculations. To solve this problem, the research was based on the premise that: (The application of cost technology based on specifications will result in calculating the cost of the product according to the specification required by the customer, to meet his wishes properly and witho

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Publication Date
Tue Dec 09 2025
Journal Name
Journal Of Al-farahidi’s Arts
Artificial Intelligence Applications in Machine Translation and Their Role in Bridging Semantic Gaps Across Languages: A Comparative Analytical Study of Chat GPT and Deep Seek
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With the fast-growing of neural machine translation (NMT), there is still a lack of insight into the performance of these models on semantically and culturally rich texts, especially between linguistically distant languages like Arabic and English. In this paper, we investigate the performance of two state-of-the-art AI translation systems (ChatGPT, DeepSeek) when translating Arabic texts to English in three different genres: journalistic, literary, and technical. The study utilizes a mixed-method evaluation methodology based on a balanced corpus of 60 Arabic source texts from the three genres. Objective measures, including BLEU and TER, and subjective evaluations from human translators were employed to determine the semantic, contextual an

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Publication Date
Wed Sep 30 2026
Journal Name
Revista Iberoamericana De Psicología Del Ejercicio Y El Deporte, Issn 1886-8576, Vol. 18, Nº. 1, 2023, Págs. 19-29
Constructing A Measure of Psychological Disability and Its Relationship to Some Basic Skills and Fixed Playing Situations for Youth Football Players Under (19) Years Old
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Autorías: Muwafaq Obayes Khudhair, Sanaa Rabeea Abed, Hayder Talib Jasim. Localización: Revista iberoamericana de psicología del ejercicio y el deporte. Nº. 1, 2023. Artículo de Revista en Dialnet.

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Publication Date
Sun Feb 22 2026
Journal Name
Clinical Drug Investigation
A Field-Based Cost-Effectiveness Study of Aflibercept and Bevacizumab in Treat-and-Extend Versus Pro Re Nata Protocols for Diabetic Macular Edema in Iraq
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Publication Date
Mon Oct 01 2018
Journal Name
Journal Of Economics And Administrative Sciences
The Green Regulatory Tapes and Their Reflections on the Job Development - A Study for the Sample of Employees in the Nineveh Directorate for Bridges & Roads
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The performance of job effectively requires narrowing the meaningful routine activities and attempting employing the job procedures in favor of public welfare through adding the green impact as well as removing them from the red tapes which reflect the firmness of procedures, to enable the job parties to make their job independently, and pushing them to gain priority in the competition layer. This is not attaining easily amidst the regulatory problems expressed by the complication of procedures, the thing which make identifying the problem of the study through the following question:

Should we make the complex of procedures and their firmness a way to adopt the idea of the green regulatory tapes supportin

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Publication Date
Sun Jun 30 2024
Journal Name
Modern Sport
The effect of an educational curriculum using virtual reality glasses in improving some kinetic abilities and learning freestyle swimming for first-year primary school students
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هدفت الدراسة الى الاهتمام واستغلال ماهو جديد من تقنيات واجهزة حديثة في تعليم السباحة الحرة عن طريق توجيه الاطفال على تطوير مداركهم واستيعابهم بالتطور التكنولوجي الذي يتناوله العالم ،قامت الباحثتان باعداد منهج تعليمي باستخدام نظارة الواقع الافتراضي وذالك بتوفير بيئة مشابهة للبيئة الحقيقية تحاكي مدارك عقول الاطفال في عالم افتراضي لتتكون صورة كاملة عن مهارات السباحة الحرة ،ومن هنا اتت المشكلة نتيجة تعل

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Publication Date
Wed Jun 29 2022
Journal Name
Journal Of The College Of Education For Women
The Chicago School in Urban Sociology: A Socio-Historical Approach on the Pragmatic Thought Influence as a Theoretical Frame of Reference in it-1892-2020
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The present theoretical study analyzes the legacy of the Chicago School of Urban Sociology and evaluates it in the light of the growth and development of Chicago City and the establishment of sociology in it. Sociology has become an academic discipline recognized in the United States of America in the late nineteenth century, particularly, after the establishment of the first department of sociology in the University of Chicago in 1892. That was during the period of the rapid industrialization and sustainable growth of the Chicago City. The Chicago School relied on Chicago City in particular, as one of the American cities that grew and expanded rapidly in the first two decades of the twentieth century. At the end of the nineteenth centur

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Publication Date
Fri May 03 2019
Journal Name
Journal Of Physical Education
Effect Special Exercises & Electrical Muscle Stimulation In Maximum Strength Balance by indication Electrical Activity for Muscles on Both Sides of Body For Disabled Weightlifters
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MJ Abbas, AK Hussein, Journal of Physical Education, 2019

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