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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
Sat Apr 30 2022
Journal Name
Biomedical Research And Therapy
Association between anti-collagen type II autoantibodies and the acute rheumatoid arthritis phenotype in a cohort of rheumatoid arthritis patients
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Publication Date
Mon Jan 01 2024
Journal Name
Pakistan Journal Of Life And Social Sciences (pjlss)
Effect of Aromatherapy on Pain Intensity for Patients Undergoing Arterial Sheath Removal after Percutaneous Coronary Intervention: A Randomized Controlled Trial
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Publication Date
Sun Dec 22 2019
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
The Prevalence of UGT1A1*93 and ABCC5 Polymorphisms in Cancer Patients Receiving Irinotecan-Based Chemotherapy at Al-Najaf Al-Ashraf
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Irinotecan (CPT-11) is a semisynthetic derivative of the antineoplastic agent camptothecin used in a wide range as an anti-cancer agent in many solid tumors because of its cytotoxic effect through the interaction with the topoisomerase I enzyme. The major limiting factors for irinotecan treatment are its association with potentially life-threatening toxicities including neutropenia and acute or delayed-type diarrhea, results from distinct interindividual and interethnic variability due to gene polymorphism.

This is a cross sectional pharmacogentics study was conducted on 25 cancer patients to estimate the prevalence of UGT1A1*93 and ABCC5 allele single nucleotide polymorphism (SNP) in Iraqi cancer patients treated with irinotecan

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Publication Date
Tue Jul 01 2025
Journal Name
Larc
Analysis of the character of women in the narrative works of Benito Pérez Galdós تحليل شخصية المرأة في الاعمال السردية لبينيتو بيريث غالدوس
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Publication Date
Mon Jun 15 2020
Journal Name
Al-academy
The effectiveness of the constructivist learning model in acquiring the Institute of Fine Arts' students of artistic analysis skills: اخلاص عبد القادر طاهر
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The constructivist learning model is one of the models of constructivist theory in learning, as it generally emphasizes the active role of the learner during learning, in addition to that the intellectual and actual participation in the various activities to help students gain the skills of analyzing artistic works. The current research aims to know the effectiveness of the constructivist learning model in the acquisition of the skills of the Institute of Fine Arts for the skills of (technical work analysis). To achieve the goal, the researcher formulated the following hypothesis: There are no statistically significant differences between the average scores of the experimental group students in the skill test for analyzing artworks befor

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Publication Date
Mon Jul 17 2023
Journal Name
Journal Of The Iraqi University
Analysis of the Content of the Physics Textbook of the 3rd Intermediate Grade According to the Criteria for Designing and Producing in Fographics
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In this study, the researcher aims to analyze the content of the physics textbook for the 3rd intermediate grade according to the criteria for designing and producing infographics, and the research community consists of the content of the physics textbook for the 3rd intermediate grade intermediate grade for the academic year 2021-2022. The researcher adopted the analysis instruments with a number of the criteria for designing and producing infographics. The results revealed randomness in the percentage of the criteria included in the content of the physics textbook for the 3rd intermediate grade, and they are not compatible with the proposed criteria by the experts also.

Publication Date
Sun Mar 01 2009
Journal Name
Journal Of Economics And Administrative Sciences
Use the path analysis method to diagnoseFactors influencing the intentions of the employees of the University of Dhi Qar To introduce Internet behavior
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The purpose of this study is to diagnose factors that effect Thi-Qar behavioral intention to use internet. A sample of (127) internet users of university staff was taken in the study and were analyzed by using path analyze . The study concluded that there is a set of affecting correlation. It was founded that exogenous variables (gender, income, perceived fun, perceived usefulness, Image, and ease of use) has significant effect on endogenous (behavioral intention) . The result of analysis indicated that image hopeful gained users comes first, ease of use secondly, perceived fan and perceived usefulness on (dependent variables (daily internet usage and diversity of internet usage. Implication of these result are discussed . the st

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Publication Date
Tue Mar 01 2016
Journal Name
Journal Of Engineering
Prediction of Raw Water Turbidity at the Intakes of the Water Treatment Plants along Tigris River in Baghdad, Iraq using Frequency Analysis
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Different frequency distributions models were fitted to the monthly data of raw water Turbidity at water treatment plants (WTPs) along Tigris River in Baghdad. Eight water treatment plants in Baghdad were selected, with raw water turbidity data for the period (2008-2014). The frequency distribution models used in this study are the Normal, Log-normal, Weibull, Exponential and two parameters Gamma type. The Kolmogorov-Smirnov test was used to evaluate the goodness of fit. The data for years (2008-2011) were used for building the models. The best fitted distributions were Log-Normal (LN) for Al-Karkh, Al-Wathbah, Al-Qadisiya, Al- Dawrah and, Al-Rashid WTPs. Gamma distribution fitted well for East Tigris and Al-Karamah WTPs. As for Al-

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Publication Date
Wed Jul 01 2020
Journal Name
Medico-legal Update
Evaluation of technical quality and procedural errors of root canal treatment performed by undergraduate and postgraduate dental students: A retrospective radiographic analysis
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Scopus
Publication Date
Thu Oct 17 2019
Journal Name
International Journal Of Research In Social Sciences And Humanities
A CRITICAL DISCOURSE ANALYSIS OF RHETORICAL DEVICES OF TRUMP'S AND MAY'S SPEECHES DURING THE PERIOD 2017 TO 2019
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DBNRHM Sami, International Journal of Research in Social Sciences and Humanities, 2020

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