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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
Sun Dec 20 2020
Journal Name
International Journal Of Research In Social Sciences And Humanities
THE EFFECT OF MAXIMUM PHYSICAL EXERTION EXERCISES ACCORDING TO THE ANAEROBIC THRESHOLD ON THE DEVELOPMENT OF EXPLOSIVE ABILITY AND THE SKILL OF SHOOTING BY JUMPING HIGH IN FRONT OF HANDBALL FOR YOUTH
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The sports field is one of the fields that are concerned with the various methods and methods because of their positive impact on the development of actual training, the investment of the exerted effort in time, and through the follow-up of the researcher in the field and academic field, I noticed that there is a weakness in explosive ability, which affects performance and skill level during training and competition Therefore, the researcher decided to prepare maximum physical exertion exercises according to the anaerobic threshold as a principle of development in many physical and skill variables because good physical performance leads to reaching the best achievements and since the skill of shooting by jumping high - either constitutes a

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Publication Date
Tue Dec 04 2018
Journal Name
Iraqi Journal Of Market Research And Consumer Protection
EVALUATION OF IMPACT OF MARKETING POLICY IN Al-FURAT GENERAL COMPANY FOR CHEMICAL INDUSTRIES AND PESTICIDES: EVALUATION OF IMPACT OF MARKETING POLICY IN Al-FURAT GENERAL COMPANY FOR CHEMICAL INDUSTRIES AND PESTICIDES
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Marketing is one of the most important pillars on which most industrial and commercial sectors depend on evaluating their performance, improving their financial position, development and economic growth. The presence of effective marketing activities in any industrial or commercial organization (which works to meet the requirements of customers in order to ensure the integration of trading and handling rings with consumers and to ensure the growth of the marketing process regularly and not to retreat) effectively contributes to maintaining the company's position between its competitors and its customers. It is necessary to have these marketing activities in order to meet the requirements of the organization on the one hand and to

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Publication Date
Wed Mar 30 2022
Journal Name
Journal Of Educational And Psychological Researches
The current research aims to identify the visual culture skills of students of the College of Education for Pure Sciences / Ibn Al-Haytham
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  • Identifying the visual culture skills of students of the College of Education for Pure Sciences / Ibn Al-Haytham.
  • Identifying the statistically significant differences in the visual culture skills of students of the College of Education for Pure Sciences / Ibn Al-Haytham according to the gender variable.
  • And the descriptive approach was used, due to its relevance to the nature of the research objective.

    To verify this, the visual culture skills test consisted of (22) items of the multiple choice type, where the (Koder Richardson 20) equation was applied to calculate the stability of the visual culture skills test. For the skill of writing

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Publication Date
Thu Dec 01 2022
Journal Name
Iop Conference Series: Earth And Environmental Science
Study of water productivity of wheat and moisture distribution under the influence of center pivot irrigation and different tillage systems for desert soils
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A field experiment was conducted to grow the wheat crop during the fall season 2020 in Karbala province, north of Ain Al-Tamr District in two locations of different textures and parent materials. The first site (calcareous soil) with a sandy loam texture, is located at (44° 40′ 37′) east longitude and (32° 41′ 34′) north latitude, at an altitude of 32 m above sea level, and an area of 20 hectares. As for the second location (gypsum soil) with a loam texture, it is located at a longitude (45° 41′ 39′) east and a latitude (33° 43′ 34′ north) and at an altitude of 33 m above sea level and an area of 20 hectares. To find out the effect of different tillage systems on water productivity and wheat yield under center pivot irri

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Publication Date
Sat Dec 01 2018
Journal Name
Journal Of Accounting And Financial Studies ( Jafs )
The role of TD-ABC approach in decreasing of cost per unit: Applied study in the General company of Hydraulic Industries \ Plastic Factory
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The aim of the research is to use this technique and to determine the effect of this method in reduce cost per unit of the company. The traditional method used in the company the research sample to determine the indirect costs, the definition of the concepts and characteristics of the method of cost-based activity and the cost method based on time-driven activity and justifications applied to companies.   In order to achieve the research objectives, the main hypotheses were formulated. That was represented: (The applied of (TDABC) Time driven activity based costing method in reducing indirect costs, leads reduce cost per unit than the use of the traditional method of allocating indirect costs in the research sample company).&nb

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Publication Date
Fri Jul 01 2016
Journal Name
Journal Of Economics And Administrative Sciences
(The role of strategices to manage the human resources in enhancement the process of knowledge management : Field Search in the Ministry of Transportation)
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The aims of the research is to know the role of strategic to manage the human resources in enhancement the process of knowledge management in the Ministry of Transportation , In addition to the effects occurred on outcomes for both the managers and practitioners .

For the purpose of achieving the objectives of the research , the researchers designed a questionnaire that included (40 Points for collecting the primary data from the sample of the research which contained (51) indiviluals. In light of that, the data was to collect and analyzed and hypotheses were tested by using the (SPSS) Program, and a number of statistical techniques was used to attain the goal of the research such as the means ,  Sta

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Publication Date
Sat Jun 25 2022
Journal Name
International Journal Of Drug Delivery Technology
Comparison of Sizes of Zinc Oxide Nanoparticles Extracted from Staphylococcus lugdunensis and Berberis vulgaris Plant Extract Against Some Types of Bacteria and Yeast
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Staphylococcus lugdunensis, isolation between 12.5 to 1.8% routine works may be a possible peroral route of infective endocarditis and found in the oral cavity by examined using saliva. Similar supragingival plaque isolation was observed. The increased bacteria resistance to antibiotics multiple have led to novel methods for resistance bacteria; antimicrobial agents are well known (ZnO NPs) by biological method and are lower toxicity and biology safety ZnNOPs activity by plant extraction and less toxicity as well as bio-safe. The nanoparticle was synthesized by biological method (Green) by barberry (Berberis vulgaris) extract. In this study using (WAD) method using different concentrations between (128, 64, 32, and 16) mg/mL of ZnO NPs, The

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Publication Date
Sat Sep 30 2023
Journal Name
Journal Of The College Of Education For Women
The Degree of Availability of Design Thinking Indicators in the content of Arabic Language Curricula at the secondary stage in Syrian Arab Republic
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The study aimed to identify the degree of availability of design Thinking Indicators in The content of the Arabic Language Curricula at the secondary stage in the Syrian Arab Republic; to achieve the goal of the study. The researcher used the Descriptive Approach based on the analysis method according to the Cognitive Theory. The study tools consist of a list of Design Thinking Indicators and a Content Analysis Tool. The researcher completed the Validity and Reliability procedures for the tools. After applying them, the results of the study resulted in the following: Greater Interest than other sub-skills. The results also showed a Divergence of care for the sub-skills and the Difference in their recurrence rate, and the Omission of some

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Publication Date
Mon Feb 25 2019
Journal Name
Journal Of Accounting And Financial Studies ( Jafs )
The Impact of Using the Information Technology on The Audit Profession: A Study of the Sample of Auditor Viewpoints in Selected Arab Countries
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This study aims to clarify areas of using information technology in accounting and its impact on the profession of auditors by reviewing the concept, types, areas and the importance of information technology and its implications on the audit profession as well as to clarify the extent of contribution of information technology in  developing of procedures of the audit profession and what its requirement, also this study aims to enhance the theoretical side by identifying the views of a sample of auditors in  Arab countries selected (Iraq, Syria, Jordan), for the extent of using of information technology in their work and level of their perception for the importance of that

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Crossref
Publication Date
Sat Jun 25 2022
Journal Name
International Journal Of Drug Delivery Technology
Comparison of Sizes of Zinc Oxide Nanoparticles Extracted from Staphylococcus lugdunensis and Berberis vulgaris Plant Extract Against Some Types of Bacteria and Yeast
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Staphylococcus lugdunensis, isolation between 12.5 to 1.8% routine works may be a possible peroral route of infective endocarditis and found in the oral cavity by examined using saliva. Similar supragingival plaque isolation was observed. The increased bacteria resistance to antibiotics multiple have led to novel methods for resistance bacteria; antimicrobial agents are well known (ZnO NPs) by biological method and are lower toxicity and biology safety ZnNOPs activity by plant extraction and less toxicity as well as bio-safe. The nanoparticle was synthesized by biological method (Green) by barberry (Berberis vulgaris) extract. In this study using (WAD) method using different concentrations between (128, 64, 32, and 16) mg/mL of ZnO

... Show More
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Scopus (3)
Crossref (1)
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