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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 Dec 09 2023
Journal Name
Acta Geochimica
Provenance and depositional setting of the Late Miocene- Pleistocene clastic sediments in the eastern Arabian Peninsula and western Iraq using rare earth elements geochemistry
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Publication Date
Sat Oct 08 2022
Journal Name
Journal Of Computational Design And Engineering
Twisted-fin parametric study to enhance the solidification performance of phase-change material in a shell-and-tube latent heat thermal energy storage system
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Abstract<p>Phase change material (PCM) is considered as one of the most effective thermal energy storage (TES) systems to balance energy supply and demand. A key challenge in designing efficient PCM-based TES systems lies in the enhancement of heat transmission during phase transition. This study numerically examines the privilege of employing twisted-fin arrays inside a shell-and-tube latent heat storage unit to improve the solidification performance. The presence of twisted fins contributes to the dominating role of heat conduction by their curved shapes, which restricts the role of natural convection but largely aids the overall heat-transfer process during solidification. The heat-discharge </p> ... Show More
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Publication Date
Mon Nov 01 2021
Journal Name
Journal Of Engineering
Performance Evaluation of Pole Placement and Linear Quadratic Regulator Strategies Designed for Mass-Spring-Damper System Based on Simulated Annealing and Ant Colony Optimization
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This paper investigates the performance evaluation of two state feedback controllers, Pole Placement (PP) and Linear Quadratic Regulator (LQR). The two controllers are designed for a Mass-Spring-Damper (MSD) system found in numerous applications to stabilize the MSD system performance and minimize the position tracking error of the system output. The state space model of the MSD system is first developed. Then, two meta-heuristic optimizations, Simulated Annealing (SA) optimization and Ant Colony (AC) optimization are utilized to optimize feedback gains matrix K of the PP and the weighting matrices Q and R of the LQR to make the MSD system reach stabilization and reduce the oscillation of the response. The Matlab softwar

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Publication Date
Mon May 27 2019
Journal Name
Al-academy
Revival of the Heritage Using Porcelain Units Inspired by Traditional Sadou Decoration and Kufic Calligraphy in Fashion Design: تهاني ناصر العجاجي ---وجدان محمد الفليج
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The purpose of this research is to identify heritage and highlight its value by drawing on its decorative vocabulary and integrating it with the Arabic calligraphy to revive the heritage in a contemporary style, and to create decorative design units inspired by Sadou and Arabic calligraphy and to employ them in the modern fashion designs. The applied descriptive approach has been used in this research, and the research community is made of women in Riyadh area. The tools used in this research were the questionnaire and the observation. The most important results of the research are: the design of decorative units from the integration of Arabic calligraphy and the decorations of the Saduo, and the use of these units in the design of the o

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Publication Date
Thu Oct 13 2022
Journal Name
Ibero-american Journal Of Exercise And Sports Psychology
The effect of Sakyo training (S.A.Q) in developing some physical and kinetic abilities and completing 110m hurdles for 16-year-old specialized school players
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The event of crossing the barriers is one of the Power Games activities that have received great attention in the field of researches. Which led to ma..

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Publication Date
Tue Jan 02 2018
Journal Name
Journal Of Educational And Psychological Researches
The awareness degree of teacher students in Arabic language department and their supervisors at Al-aqsa University for their future role in knowledge age
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The study aimed to identify the awareness degree of teacher students in the department of Arabic language and their supervisors at Al-aqsa University for their future roles in the age of knowledge. To achieve this objective, descriptive- analytical approach was used. The instruments of this study were two questionnaires: first one consist of (20) item for teacher students, and the second consist of (27) item for educational supervisors which covered three roles: professional, technological, and humanitarian. The sample was (120) student selected randomly, and (39) supervisors of Arabic language. The result revealed that the mean of degree awareness of teacher students and their supervisors of future role are (3.857), (3.472) respectively

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Publication Date
Fri Apr 01 2022
Journal Name
Journal Of Engineering
Experimental Study on Using Cement Kiln Dust and Plastic Bottle Waste to Improve the Geotechnical Characteristics of Expansive Soils in Sulaimani City, Northern Iraq
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In this study, stabilization of expansive soils using waste materials namely; Cement Kiln Dust (CKD), and waste plastic bottles (WPB) was experimentally investigated. Using CKD and WPB are exponentially increasing day by day, due to their capability to solve both environmental and geotechnical problems successfully. Expansive soils were collected from locations with a wide range of plasticity index (PI) (15 - 27) and liquid limit (LL) (35% - 64%). Stabilizer percentages were varied from 0% to 20%, and curing durations for CKD cases were 7 and 28 days. Results showed the best percentages of CKD and WPB are 12% of each one respectively. LL, plastic limit (PL), and swelling percent (SP) loss were observed, which are 46%, 55%, and 96% respec

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Publication Date
Fri Jan 01 2021
Journal Name
Journal Of Economics And Administrative Sciences
Measuring and analyzing the effect of foreign debt on the gross domestic product in Morocco for the period 1990-2017 using the ARDL Test
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The research aims to identify the magnitude of the impact of external debt on the gross domestic product in Morocco, and the importance of research lies in the role that external debt plays in addressing structural imbalances, if it is best disposed of according to well-studied economic plans by specialists in this regard, especially if these debts are directed with Other resources, as it helps pay the costs of these debts (debt servicing) that the external debt also raises the level of gross domestic product, and the research starts from the hypothesis that: There is an effect of foreign debt on the GDP in Morocco, has contributed in one way or another to The exacerbation of the external debt, which affected the m

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Publication Date
Tue May 01 2018
Journal Name
Journal Of Physics: Conference Series
Synthesis, Characterization and Antibacterial Activity of 1,4-di[ aminomethylene carboxyl] phenylene (H2L) and its Complexes Co(II), Cu (II), Zn(II) and Cd (II)
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Publication Date
Tue Jun 15 2021
Journal Name
Al-academy
The semiotic of the Islamic blazon - a related analytical study between the Islamic blazon and its publicity message: رغده بنت فيصل بن خضر الدعواني
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This study discusses the semiotic of the Islamic blazon - a related analytical study between the Islamic blazon and its visual publicity message. The aim of the current study is to explore the related relationship between the Islamic blazon and its visual publicity message. The sample is contained Five of Islamic blazon in the Mamelukes period which is between 1250 to 1517. The methodology is descriptive-analytical, and the result is that there is a clear relation between the Islamic blazon with its visual publicity message. This study's recommendation is to go towards analyzing the meanings of the cultural legacies of the Islamic civilization, and researching the implicit meanings accompanying these features leads to a deeper understand

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