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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
Fri Nov 01 2013
Journal Name
International Journal Of Advanced Research
The effects of alkaloid extracted of Solanum nigrum leaves on the biological performance of Dialerodus citri
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Publication Date
Thu Jan 02 2020
Journal Name
Journal Of The College Of Languages (jcl)
A Psychological Reading of The Problem of the Black in John Steinbeck’s Of (Mice and Men)
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The present paper applies Fanon Psychological reading of the problem of the Black introduced in his book Black Skin White Mask to Crooks, The black Character in John Steinbeck’s  Of Mice and Men. The analysis of this character infers three essential points regarding the artistic achievement of the author. First, he uses a fictional character that offers a psychological interpretation of the black problem of alienation and loneliness in a way that does not disgrace the black. Second, he applies Fanon’s way of showing the various attitudes that the black adopts in contact with the white society. Third, he affirms that the black inferiority complex comes as a result of double proc

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Publication Date
Mon May 01 2023
Journal Name
Materials Today: Proceedings
An experimental study of the effects of matrix acidising on the petrophysical characteristics of carbonate formation
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Publication Date
Sat Jun 01 2024
Journal Name
Journal Of Physics: Conference Series
Study of The Effect of Concentration on The Efficiency of The Sensitive N749-TiO2 Solar Cell
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In this research, we studied the effect of concentration carriers on the efficiency of the N749-TiO2 heterogeneous solar cell based on quantum electron transfer theory using a donor-acceptor scenario. The photoelectric properties of the N749-TiO2 interfaces in dye sensitized solar cells DSSCs are calculated using the J-V curves. For the 〖(CH_3)〗_3 COH solvent, the N749-TiO2 heterogeneous solar cell shows that the concentration carrier together with the strength coupling are the main factors affecting the current density, fill factor and efficiency. The current density and current increase as the concentration increases and the strength coupling increases as the N749-TiO2 heterogeneous in solar cell. However, the efficiency is more sens

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Publication Date
Sat Apr 01 2023
Journal Name
Journal Of Legal, Ethical And Regulatory Issues
THE IMPACT OF THE ROLE OF THE ORTHODOX CHURCH ON THE POLITICS OF THE RUSSIAN FEDERATION
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The research tackles the nature of relationship between the Orthodox Church and the state in the Russian Federation. At the beginning of the nineties of the last century, the church had been performed a different role in its relationship with the state, and it had an effect over the internal and foreign policies for the Russian Federation. In political history of Russia, the church’s existence became an evident too much in comparing with the previous historical period, starting with the educational and political system, whether through a symbolic participating roles as what happened in the inauguration ceremony to take over responsibility of the head of state or taking actual roles such as influencing on the process of holding elections d

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Publication Date
Mon Jun 01 2020
Journal Name
Journal Of The College Of Languages (jcl)
Interlanguage Pragmatics of Non-Institutional Criticism: A Study of Native and Non-Native Speakers of English
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Criticism is inherently impolite and a face-threatening act generally leading to conflicts among interlocutors. It is equally challenging for both native and non-native speakers, and needs pre-planning before performing it. The current research examines the production of non-institutional criticism by Iraqi EFL university learners and American native speakers. More specifically, it explores to what extent Iraqi EFL learners and American native speakers vary in (i) performing criticism, (ii) mitigating criticism, and (iii) their pragmatic choices according to the contextual variables of power and distance. To collect data, a discourse-completion task was used to elicit written data from 20 Iraqi EFL learners and 20 American native speaker

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Publication Date
Sun Mar 07 2010
Journal Name
Baghdad Science Journal
The role of some types of erythrocytes on the growth of Entamoeba histolytica trophozoite in vitro
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The parasite E.histolytica was first isolated from a stool sample, and then cultivated and maintained in vitro using Locke-egg medium (LEM) and Liver infusion agar medium (LIAM) . Then, the effect of some types of erythrocytes (human and sheep), on the growth and activity of the parasite in the two culture media was investigated. The parasite was able to ingest and lysis erythrocytes of human and sheep that were supplemented to the culture media and such manipulation was able to augment the reproduction rate of the cultivated E. histolytica, however, such consequence was media- and concentration-dependent. The reproduction rate was significantly increased (66.0, 57.5 and 58.6%, respectively) in LEM medium containing human erythrocytes ty

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Publication Date
Mon Feb 04 2019
Journal Name
Iraqi Journal Of Physics
Enhancement of the solubility of polyaniline and studying the optical properties of (PANI+PVA) polymers blends.
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The optical transmission and UV-VIS absorption spectra have been recorded in the wavelength range (200-1100m) for different composition of polyaniline and polyvinyl Alcohol(PVA ) blends thin films. Polyaniline was prepared in acidic medium to enhancement the solubility and processibility, The optical energy gap (Eopt) refractive index and optical dielectric constant real and imaginary part have been evaluated. The effects of doping percentage of prepared polyaniline on these parameters was discussed and the non –linear behavior for all these parameters was investigated.

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Publication Date
Fri Jun 01 2018
Journal Name
Journal Of Cranio-maxillofacial Surgery
Assessment of regional asymmetry of the face before and after surgical correction of unilateral cleft lip
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Publication Date
Tue May 16 2023
Journal Name
Political Sciences Journal
The Impact of the Internationalization of the Libyan Crisis on the Future of the Political Settlement
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The internationalization of the Libyan crisis and its accompanying militarization of the conflict have played a vital role in hindering to reach a comprehensive political settlement solution in Libya. The increasing international greediness in the Libyan energy resources and the geopolitical importance of the Libyan State led to the involvement of many international and regional powers in this crisis and transformed the Libyan crisis into “proxy war”.  Moreover, the Turkish direct military intervention in the Libyan crisis is considered as one of the main constraints facing the international and regional efforts to settle the Libyan crisis as a result of the Turkish insistence on its military existence in Libya to preserve i

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