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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 Aug 26 2021
Journal Name
International Journal Of Applied Mechanics And Engineering
Probabilistic Mesoscale Analysis of Concrete Beams Subjected to Flexure
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Abstract<p>In this paper, the probabilistic behavior of plain concrete beams subjected to flexure is studied using a continuous mesoscale model. The model is two-dimensional where aggregate and mortar are treated as separate constituents having their own characteristic properties. The aggregate is represented as ellipses and generated under prescribed grading curves. Ellipses are randomly placed so it requires probabilistic analysis for model using the Monte Carlo simulation with 20 realizations to represent geometry uncertainty. The nonlinear behavior is simulated with an isotropic damage model for the mortar, while the aggregate is assumed to be elastic. The isotropic damage model softening be</p> ... Show More
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Publication Date
Thu May 15 2025
Journal Name
Route Educational And Social Science Journal
A PSYCHOSOCIAL ANALYSIS OF APPROACHING ZANZIBAR BY TINA HOWE
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Publication Date
Thu Feb 21 2019
Journal Name
Journal Of Accounting And Financial Studies ( Jafs )
Analysis Tax Advantage of Financing Lease: An Empirical Study
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The Purpose of this study are  analyze financial lease advantage through analyze and discuss financial lease cost, and achieve tax advantage to reach study objective. study include two firms ,oil firm and construction firm with limited liability. The inductive method is used for the applied part in analyzing the financial data of the companies considered in 2011-2015.The result of the study shows that the financial  lease achieve present value of the costs is positive. This study found out the results that verify the hypothesis: The tax advantage of financial Leasing is characterized by decreasing cost and achieving higher tax shield. The study also found the most important recommendations of awareness of the benefits arising f

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Publication Date
Mon Apr 08 2019
Journal Name
International Journal Of Building Pathology And Adaptation
A scientometric analysis of BIM studies in facilities management
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Purpose

The purpose of this paper is to statistically classify and categorize Building Information Modelling (BIM)-Facility Management (FM) publications in order to extract useful information related to the adoption and use of BIM in FM.

Design/methodology/approach

This study employs a quantitative approach using science mapping techniques to examine BIM-FM publications using Web of Science (WOS) database for the period between 2000 and April 2018.

Findings

The findi

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Publication Date
Thu Jan 01 2009
Journal Name
Bayt Alhekma
COMPARATIVE ANALYSIS OF RUSSIAN AND ARABIC PHRASEOLOGICAL UNITS (TURNS)
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Abstract The study aimed at reviewing translation theories proposed to address problems in translation studies. To the end, translation theories and their applications were reviewed in different studies with a focus on issues such as critical discourse analysis, cultural specific items and collocation translation.

Publication Date
Mon Jun 30 2025
Journal Name
Ingénierie Des Systèmes D Information
Comparative Analysis of Four Programming Languages for Machine Learning
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Publication Date
Mon Feb 04 2019
Journal Name
Journal Of The College Of Education For Women
Harold pinter and Iraq: An analysis of war(2003)
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Publication Date
Sat Sep 01 2018
Journal Name
Al-nahrain Journal For Engineering Sciences
Performance Analysis of FSO under Turbulent Channel Using OSTBC
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Free Space Optics (FSO) plays a vital role in modern wireless communications due to its advantages over fiber optics and RF techniques where a transmission of huge bandwidth and access to remote places become possible. The specific aim of this research is to analyze the Bit-Error Rate (BER) for FSO communication system when the signal is sent the over medium of turbulence channel, where the fading channel is described by the Gamma-Gamma model. The signal quality is improved by using Optical Space-Time Block- Code (OSTBC) and then the BER will be reduced. Optical 2×2 Alamouti scheme required 14 dB bit energy to noise ratio (Eb/N0) at 10-5 bit error rate (BER) which gives 3.5 dB gain as compared to no diversity scheme. Th

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Publication Date
Wed Sep 30 2020
Journal Name
Industrial Engineering &amp; Management Systems
Economic Analysis of the Financial Literacy Effects in G20
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ABSTRACT this paper extends the literature on the elements and effect of financial literacy by investigating the elements of financial literacy and the impact of financial literacy on financial inclusion and savings. This research confirms the results of researches of other economies but exposes some dissimilarities as well. The principal factors of financial literacy are discovered to be government efficiency, educational level, income, economic performance and infrastructure. Both education levels and financial literacy are found to be meaningfully and positively linked to financial inclusion and savings in G20 economies

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Publication Date
Mon Oct 01 2018
Journal Name
2018 11th International Congress On Image And Signal Processing, Biomedical Engineering And Informatics (cisp-bmei)
3D Head Shape Analysis of Suspected Zika Infected Infants
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