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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
Thu Jun 20 2019
Journal Name
Baghdad Science Journal
An Analysis on the Applicability of Meta-Heuristic Searching Techniques for Automated Test Data Generation in Automatic Programming Assessment
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Automatic Programming Assessment (APA) has been gaining lots of attention among researchers mainly to support automated grading and marking of students’ programming assignments or exercises systematically. APA is commonly identified as a method that can enhance accuracy, efficiency and consistency as well as providing instant feedback on students’ programming solutions. In achieving APA, test data generation process is very important so as to perform a dynamic testing on students’ assignment. In software testing field, many researches that focus on test data generation have demonstrated the successful of adoption of Meta-Heuristic Search Techniques (MHST) so as to enhance the procedure of deriving adequate test data for efficient t

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Publication Date
Mon May 09 2022
Journal Name
International Academic Journal Of Economics
Analysis of the Relationship between Fiscal Policy Shocks and Monetary Stability in Iraq's Economy for the Period 1990-2018
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The research aims to measure the impact of positive and negative fiscal policy shocks on monetary stability in Iraq, which represents monetary stability as an indicator of real and price stability. Fiscal policy shocks are quantitative changes in public spending and public revenue affecting the output and price cycle, and fiscal policy despite the accompanying time gaps, but it remains a policy Influential and has a significant degree of impact on economic growth and development in developing countries. The fiscal policy represents a numerical translation of the economic and social objectives planned in the state's general budget tool consistent with the GDP cycle. The economic and social goals stem from the core of the functions and the ma

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Publication Date
Wed Jun 28 2023
Journal Name
Engineering Applications Of Computational Fluid Mechanics
Comprehensive analysis of melting enhancement by circular Y-shaped fins in a vertical shell-and-tube heat storage system
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Publication Date
Tue Dec 09 2025
Journal Name
Petroleum And Coal
Extraction and Analysis of Compressional, Shear, and Stoneley Slowness, Rock Mechanical Properties, and Shear Anisotropy Using Sonic Scanner Data
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The Sonic Scanner is a multifunctional instrument designed to log wells, assess elastic characteristics, and support reservoir characterisation. Furthermore, it facilitates comprehension of rock mechanics, gas detection, and well positioning, while also furnishing data for geomechanical computations and sand management. The present work involved the application of the Sonic Scanner for both basic and advanced processing of oil-well-penetrating carbonate media. The study aimed to characterize the compressional, shear, Stoneley slowness, rock mechanical properties, and Shear anisotropy analysis of the formation. Except for intervals where significant washouts are encountered, the data quality of the Monopole, Dipole, and Stoneley modes is gen

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Publication Date
Thu Jan 29 2026
Journal Name
Journal Of Baghdad College Of Dentistry
Occlusal features, perception of occlusion and orthodontic treatment need and demand among 13 years aged Baghdadi students Part II: (Cross sectional epidemiological study)
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Background: The present study aimed to assess the distribution, prevalence, severity of malocclusion in Baghdad governorate in relation to gender and residency Materials and Methods: A multi-stage stratified sampling technique was used in this investigation to make the sample a representative of target population. The sample consisted of 2700 (1349 males and 1351 females) intermediate school students aged 13 years representing 3% of the total target population. A questionnaire was used to determine the perception of occlusion and orthodontic treatment demand of the students and the assessment procedures for occlusal features by direct intraoral measurement using veriner and an instrument to measure the rotated and displaced teeth. Results a

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Publication Date
Wed Mar 23 2022
Journal Name
Journal Of Educational And Psychological Researches
The effectiveness of a teaching program based on the McCarthy Model (4MAT) in developing creative writing skills and reflective thinking among university students
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The aim of this study was to determine the effect on using the McCarthy Model (4MAT) for developing creative writing skills and reflective thinking among undergraduate students. The quasi-experimental approach was adopted. And, in order to achieve the study objective, the educational content of Teaching Ethics (Approach 401), for the plan for the primary grades teacher preparation program  was dealt with by using a teaching program based on the McCarthy Model (4MAT) was used.

The study which was done had been based on the academic achievement test for creative writing skills, and the reflective thinking test. The validity and reliability of the study tools were also confirmed. The study was applied to a sample consisting of

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Publication Date
Tue Jan 01 2019
Journal Name
الأستاذ
Teaching-learning design according to constructivist theory models and its impact on the achievement of chemistry among second-year intermediate school female students
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Publication Date
Thu Dec 28 2023
Journal Name
Journal Of Physical Education
Proactive leadership and its relationship to managing the organizational error of the Iraqi Handball Federation from the point of view of the clubs participating in the Iraqi Elite League for the season 2023-2024
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This research seeks to study the role of proactive leadership as an essential element that helps all federations that lead the wheel of sports, including the Iraqi Handball Federation, so that it builds a correct environment that helps manage the organizational errors that the Handball Federation may fall into, and this in turn helps in early detection of errors and obstacles that may occur. It is likely that the Federation will fall into the process of managing and organizing the Iraqi Handball League, in addition to increasing the clubs’ ability to assist the Iraqi Handball Federation by being proactive so as not to make mistakes. The research community included the administrative bodies of the clubs participating in the Iraqi E

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Publication Date
Sun Sep 26 2021
Journal Name
Modern Sport
The Effect Of Plank Exercises On The Lipid Component And The Rate Of Metabolism (Bmr) Among Students Of The Higher Institute For Security And Administrative Development
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The introduction of the research on the science of training and the physiology of sports was addressed from important sciences, where the physical effort drew the attention of scientists since the past centuries when they studied how the body performs its functions when performing physical exertion and observe the changes that occur in it and write down and study especially the positive effects of the practice of daily sports The aim of the study was to investigate the effect of plank exercises on the lipid component and the metabolic rate (bmr) of the female students of the Higher Institute for Security and Management Development. As for the third chapter, the two researchers used the experimental method on a sample of the female s

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Publication Date
Mon Apr 04 2022
Journal Name
Journal Of Educational And Psychological Researches
Motivated Classroom Evaluation Environment for Learning and its Relationship to Feedback Patterns among Teachers of the Second Cycle of Basic Education in the Sultanate of Oman
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This study aims to investigate the degree of practicing the motivated classroom evaluation environment for learning and its relationship to different feedback patterns. To achieve the objectives of the study, the correlational descriptive research design was employed. A questionnaire was constructed consisting of two parts: the classroom evaluation environment (13) items, and feedback patterns (24) items on a five-point scale. The psychometric properties of the questionnaire were verified in terms of validity and reliability. The questionnaire was applied to a sample of (265) male and female teachers who work in the second cycle schools for grades (5-10) of basic education in all academic majors in the Governorate of Muscat in the Sultan

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