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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
Wed Dec 24 2025
Journal Name
Journal Of Physical Education
The Effect Of Psychological Counselling On The Development Of Psychological Skills and the Level Of First Class Soccer Referees (Baghdad governorate)
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Publication Date
Wed Mar 10 2021
Journal Name
Baghdad Science Journal
The role of the plasmid content in multiple resistance to antibiotics Life in isolated Rthomh of cases of diarrhea in children
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Was conducted neutralize content Albulamedi for local isolates using Alacardan dye orange selection experience showed loss of local isolates resistant life antibiotic ampicillin, chloramphenicol

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Publication Date
Mon Apr 01 2019
Journal Name
Journal Of Educational And Psychological Researches
The Role of Tabuk University in Intellectual Education for Students in the Light of the Requirements of Enhancing the Intellectual Security
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The study aims to identify the degree of Tabuk University practices to raise the intellectual awareness of students through scientific research, as well as to identify the degree of Tabuk University practicing to raise the intellectual awareness through the educational process (faculty member – activities). The study also seeks to identify the degree of Tabuk University practicing to raise the intellectual awareness of students through community service and university media. The study is descriptive in nature that employed the questionnaire as a tool in collecting data. Total of (540) students were chosen randomly from different colleges at universities of Tabuk to form the study sample. The results showed that faculty member has pract

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Publication Date
Fri Jan 01 2021
Journal Name
International Journal Of Agriculture And Statistical Science
COMPARISON OF FORECASTING OF THE RISK OF CORONAVIRUS (COVID-19) IN HIGH-QUALITY AND LOW-QUALITY HEALTHCARE SYSTEMS, USING ANN MODELS
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COVID-19 is a disease that has abnormal over 170 nations worldwide. The number of infected people (either sick or dead) has been growing at a worrying ratio in virtually all the affected countries. Forecasting procedures can be instructed so helping in scheming well plans and in captivating creative conclusions. These procedures measure the conditions of the previous thus allowing well forecasts around the state to arise in the future. These predictions strength helps to make contradiction of likely pressures and significances. Forecasting procedures production a very main character in elastic precise predictions. In this case study used two models in order to diagnose optimal approach by compared the outputs. This study was introduce

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Scopus
Publication Date
Thu Sep 19 2024
Journal Name
Baghdad Science Journal
Study of the Toxicity and Cell Viability of Zirconium Oxide Nanoparticles Prepared from an Extract of the Vitex Agnus Castus plant
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في الدراسة الحالية، تم تصنيع جسيمات ZrO2 النانوية باستخدام مستخلص نباتي مشتق من نبات Vitex agnus castus، ووسط قلوي مثل هيدروكسيد الصوديوم. تم استخدام أسلوب التخليق الحيوي لتحضير جزيئات أوكسيد الزركونيوم النانوية لهذا المشروع البحثي. تتميز هذه الطريقة عن غيرها بسبب فعاليتها من حيث التكلفة وبساطتها وقلة المخاطر المحتملة. وتم تشخيص العينات المحضرة باستخدام المجهر الإلكتروني النافذ TEM، المجهر الإلكتروني الماسح SEM،

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Publication Date
Sat Dec 01 2018
Journal Name
Journal Of Accounting And Financial Studies ( Jafs )
Survey theopinions professional and academics on building the strategy of internal audit function and the possibility of keeping abreast of developments
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The research problem is clearly deficient suffered by the internal audit function in all institutions of Iraq, as a result of the lack of sponsor organizations for this profession and there is no law or local legislation determine its powers and its responsibilities and scope of work As well as the lack of interest of senior management in economic units that function, as it focuses its work on the scope of financial and accounting matters only So required to rebuild this function in line with the current developments as well as the lack of a framework that defines the strategy of this function, and it came the idea of research to find out how to create a regulatory method for re-strategic construction of the internal audit function depen

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Crossref
Publication Date
Fri Feb 09 2024
Journal Name
Eximia
The reality of the moral climate and its relationship to the decision-making of boxing referees from the standpoint of coaches
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The purpose of this paper is to identifying the relationship between the moral climate and the decision-making of boxing referees from the standpoint of the coaches, and the research problem lies through the work of the researchers in training and managing the teams. It was noted that the role of the referees is one of the most important roles played by the workers to achieve the objectives of the federation, and that the moral climate that prevails among the administrative body the union and the referees on the one hand and between the referees and coaches on the other hand are among the factors of the success of everyone’s work and the survival and strengthening of confidence in their work and thus the continuity of success and

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Crossref
Publication Date
Tue Jan 01 2019
Journal Name
Iraqi Journal Of Agricultural Sciences
Effect of welding heat input on corrosion rate of sprinkler irrigation piping joints by tig welding used in South of Iraq
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Scopus (2)
Scopus
Publication Date
Thu Jun 01 2017
Journal Name
Journal Of The College Of Languages (jcl)
Plain Language Movement and Legal Translation : An Analytical Study of Two Translations of a Contract of Lease from Arabic into English
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The present paper addresses one of the most challenging topics in translation; namely legal translation in the framework of two different approaches; the classical (formal) and the more recent (functional). The latter approach is the outcome of the process of simplifying legal language known technically as Plain Language Movement. The advent of this movement dates back to the 1950s, in response to the widely-held complain about the awkwardness of the legal register. Within this framework, the salient features of legal language, at the various linguistic and textual levels, underwent reconsideration in favor of more publicly digested expressions. The paper then subjects two translations of a lease contract to analysis in the ligh

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Publication Date
Tue Nov 09 2021
Journal Name
Journal Of Accounting And Financial Studies ( Jafs )
Enhancing the effectiveness of the company in light of the practice of leadership empowerment: Applied research in the National Insurance Company
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The aim of the research is to demonstrate the importance of leadership empowerment in its dimensions (knowledge, participation in decision-making, incentives, trust between the leader and subordinate, delegation of authority and communication) and its impact on enhancing the effectiveness of the company in its dimensions Represented by (achievement of objectives, quality of insurance service, adaptation to work environment and job satisfaction), by adopting the questionnaire as a main tool in collecting data from officials in the National Insurance Company, numbering (56) surveyed in job sites (section manager, division official and unit official) Their answers were analyzed using the SPSS statistical program in calculating the a

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