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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 Dec 23 2025
Journal Name
Journal Of Studies And Researches Of Sport Education
The effectiveness of the use of yoga exercises and its impact on the reactions of the two Alvesologih nervous and respiratory systems in the correction of antenna pistol shooting accuracy
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Publication Date
Tue Feb 14 2023
Journal Name
Journal Of Educational And Psychological Researches
The Evaluation of Educational Quality Management and the Way to Improve It in the College of Education for Women at the University of Baghdad from the Teachers’ Point of View
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The research aims to examine the evaluation of educational quality management and the ways to improve it in the College of Education for Women at the University of Baghdad from the point of view of the academic staff. The research community consisted of (288) participants comprising all members of the academic staff in the College of Education for Women at the University of Baghdad for the academic year (2019-2020). As for the questionnaire, it was distributed to the academic staff of the scientific departments according to their affiliation for the purpose of identifying the availability of the requirements of the quality of the teaching service provided to them by the educational institution. The researcher adopted a questionnaire deve

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Publication Date
Tue Aug 03 2021
Journal Name
Journal Of Accounting And Financial Studies ( Jafs )
The impact of tax techniques on the quality of services provided to income taxpayers: An exploratory study in a sample of the branches of the General Tax Authority / Baghdad Governorate
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The research aims to demonstrate the impact of tax techniques on the quality of services provided to income taxpayers by studying the correlational and influencing relationships between the exploited variable (tax techniques) and the dependent variable (the quality of services provided to income taxpayers), and in line with the research objectives, the main hypothesis of the research was formulated (there is a relationship Significance between tax techniques and the quality of services provided to income taxpayers) a number of sub-hypotheses emerged from this hypothesis that were stated in the research methodology, and a number of conclusions were reached, the most important of which were (through the use of the correlation coeff

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Publication Date
Thu Jun 30 2022
Journal Name
Iraqi Journal Of Market Research And Consumer Protection
THE ROLE OF ELECTRONIC MARKETING IN PROMOTING THE PRODUCTS OF THE NATIONAL INDUSTRY IN IRAQ: THE ROLE OF ELECTRONIC MARKETING IN PROMOTING THE PRODUCTS OF THE NATIONAL INDUSTRY IN IRAQ
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ABSTRACT

The research aims to clarify the role of electronic marketing and what it can achieve in promoting the products of the national industry in Iraq. Marketing channel depends on modern communication and information technology that industrial and metal companies can use in promoting and selling their products along with traditional marketing outlets. To achieve the objectives of the research, a questionnaire was used, which consists of three axes, the first includes the personal data of the sample (gender, age, educational attainment, place of residence, marital status, income level), while the second axis includes various questions about the products of the national industry. Third axis includes que

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Publication Date
Fri Dec 31 2021
Journal Name
Iraqi Journal Of Market Research And Consumer Protection
AN EXPERIMENTAL STUDY OF THE EFFECT OF VORTEX GENERATOR ON THE FLAT-PLATE BOUNDARY LAYER: AN EXPERIMENTAL STUDY OF THE EFFECT OF VORTEX GENERATOR ON THE FLAT-PLATE BOUNDARY LAYER
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This paper is dealing with an experimental study to show the influence of the geometric characteristics of the vortex generators VG son the thickness of the boundary layer (∂) and drag coefficients (CD) of the flat plate. Vortex generators work effectively on medium and high angles of attack, since they are "hidden" under the boundary layer and practically ineffective at low angles.

            The height of VGs relative to the thickness of the boundary layer enables us to study the efficacy of VGs in delaying boundary layer separation. The distance between two VGs also has an effect on the boundary layer if we take into

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Publication Date
Mon Jan 29 2024
Journal Name
Eximia
The cognitive and educational importance of the academic teacher for developing the applied skills of third-stage female students in the subject of teaching methods from their point of view
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The research aimed to prepare a measure of the importance of enlightenment, academic education, and applied skills for third-stage female students, including teaching methods from their point of view/College of Education and Sports Sciences/University of Baghdad/Al-Jadriyah. The researchers used descriptive description in the comprehensive research procedures, an appropriate methodology in achieving the research objectives, sufficient for interpretations, how important is the academic teacher’s knowledge of teaching methods for student learning, what are the roles that the learners have acquired from the academic teacher. The scale of importance and horror consists of 15 items. The research population includes female students of t

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Publication Date
Wed Oct 01 2014
Journal Name
Journal Of Economics And Administrative Sciences
The impact properties of strategic thinking in the stages of the application Business process re-engineering: A survey Study of the consultant of a sample of managers and their assistants and consultants in the General Company for Cotton Industries
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Need organizations today to move towards strategic thinking which means analyzing situations faced by particular challenges of change in the external environment, which makes it imperative for The Organization That to reconsider their strategies and orientations and operations, a so-called re-engineering to meet those challenges and pressures, to try to achieve improvement root in the installation of the organization and methodscompletion of its work towards achieving high levels of performance and that is reflected to achieve its objectives, and this is what aims to Current search to deal with implications characteristics of strategic thinking in the stages of application re-engineering business of the company General Industries

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Publication Date
Tue Jun 30 2020
Journal Name
Iraqi Journal Of Market Research And Consumer Protection
MUNICIPAL SOLID WASTE IN IRAQ BETWEEN THE HAMMER OF POPULATION GROWTH AND THE ANVIL OF THE ADMINISTRATION, FACTS, TREATMENTS AND VISION OF THE FUTURE: MUNICIPAL SOLID WASTE IN IRAQ BETWEEN THE HAMMER OF POPULATION GROWTH AND THE ANVIL OF THE ADMINISTRATION, FACTS, TREATMENTS AND VISION OF THE FUTURE
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   Municipal solid waste is one of the most important environmental problems in the world and is an important source of environmental pollution and contributes significantly to the pollution of the basic environmental elements of soil, water and air. The management of municipal waste in general is a process of monitoring, collection, treatment or recycling if possible or disposal of waste. This term is used for waste produced by some human activities. States provide this process to mitigate the negative effects of waste on the environment, health and appearance of the city. It is possible to find solutions to the problem of solid waste and make it an important source of income and contribute to securing employment oppor

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Publication Date
Mon Dec 31 2018
Journal Name
Iraqi Journal Of Market Research And Consumer Protection
EXPOSURE TO TELEVISION PROMOTION OF PHARMACEUTICAL PRODUCTS AND TRENDS TOWARDS THEM / FIELD RESEARCH FOR A SAMPLE OF THE AUDIENCE IN THE CITY OF BAGHDAD: EXPOSURE TO TELEVISION PROMOTION OF PHARMACEUTICAL PRODUCTS AND TRENDS TOWARDS THEM / FIELD RESEARCH FOR A SAMPLE OF THE AUDIENCE IN THE CITY OF BAGHDAD
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A field study was conducted on a sample of the public in Baghdad to study the audience's exposure to the television promotion of pharmaceutical products and their trends in order to determine the rate of exposure of the public to the television promotion of pharmaceutical products according to the theory of uses and rumors and to determine the public's attitudes towards television promotion of pharmaceutical products. A survey of (25) a questions was distributed to a sample of the audience of 150 people. The statistical program SPSS was used to unload the data and for the calculation of frequencies and percentages and correlation coefficients. The research reached several results, Most importantly, the television promotion is well receiv

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Publication Date
Sun Sep 01 2013
Journal Name
Chemical Engineering Science
Evaporation dynamics of microbubbles
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