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Molecular analysis of CFTR gene mutations among Iraqi cystic fibrosis patients
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Abstract<sec> <title>Background

Cystic fibrosis (CF) is an autosomal recessive multisystem disease that results from mutation(s) of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. More than 2100 mutations and polymorphisms have been reported in this gene so far. Incidence and genotyping of CF are under-identified in Iraq. This study aims to determine the types and frequencies of certain CFTR mutations among a sample of Iraqi CF patients. Two groups of patients were included: 31 clinically confirmed CF patients in addition to 47 clinically suspected patients of CF. All confirmed patients had typical, moderate-severe clinical presentation and course of the disease. Molecular analysis was performed on the majority of enrolled patients using the CF-stripAssay® kit supplied by ViennaLab diagnostics, GmbH, Austria.

Results

The mutation-detection rate from the tested 34 mutations in this study was 19.5% and the 8 detected mutations were as follows: 3120+1G>A and W1282X were found in 3 (4.17%) patients each; F508del and R1162X were found in 2 (2.78%) patients each; 3272-26A>G, R347P, I507del, and 2183AA>G were found in 1 (1.38%) patient each. Polymorphic variants of IVS8, namely 5T, 7T, and 9T, were detected in ~ 70%. These results were nearly similar to what was reported in regional countries.

Conclusion

Cystic fibrosis seems to be not rare as previously thought. 3120+1G>A and W1282X are the two most commonly detected mutations. F508del needs to be included in all future tests, while the I507del mutation was uniquely reported in this study but not in regional studies.

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Publication Date
Tue Jun 01 2021
Journal Name
Journal Of The College Of Languages (jcl)
Hidden messages in (Pour un oui ou pour un non) of Nathalie Sarraute: Les messages cachés dans "Pour un oui ou pour un non" de Nathalie Sarraute
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       The implicit is the narrative technique used to give indirect hidden messages. To read between the lines means to understand the implicit meaning that is not directly indicated. This technique is expressed in two forms: the hypothesis and the implications of linguistic and non-linguistic rules. Nathalie Sarraute’s "Pour un oui ou pour un non" states this narrative method through her character’s verbal and non-verbal dialogue. The present paper discusses the implicit method and shows the reason behind which  the author uses it in her play "Pour un oui ou pour un non".

Résumé

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Publication Date
Fri Feb 08 2008
Journal Name
Al-mustansiriyah
Synthesis and Spectral Studies of the Transition Metals (Co(II), Ni(II), Cu(II), Cd(II), Hg(II) and Pb(II)) with aniline-2-thio methylene chloridecomplexes.
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Publication Date
Sun Sep 01 2019
Journal Name
Journal Of Accounting And Financial Studies ( Jafs )
The Investment portfolio risks of the insurance company and their impacts on profitability ratios: An applied research at the national insurance co. for the period 2004-2014
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The research is trying to identify the investment portfolio risks of the insurance company and their impact, on the Profitability ratios of the company, and whether the company's scientific methods followed in the measurement of these risks, and conducted research in the National Insurance Company. by relying on its annual budget as well as the annual reports, The search dealing with these data in theoretical and practical major premise to statistically significant between to investment portfolio risk and financial performance correlation and reach a set of conclusions and recommendations which are the following.                

investments include many ri

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Publication Date
Sun Feb 03 2019
Journal Name
Iraqi Journal Of Physics
Study of charge density distributions, elastic charge form factors and root-mean square radii for 4He, 12C and 16O nuclei using Woods- Saxon and harmonic-oscillator potentials
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The nuclear charge density distributions, form factors andcorresponding proton, charge, neutron, and matter root mean squareradii for stable 4He, 12C, and 16O nuclei have been calculated usingsingle-particle radial wave functions of Woods-Saxon potential andharmonic-oscillator potential for comparison. The calculations for theground charge density distributions using the Woods-Saxon potentialshow good agreement with experimental data for 4He nucleus whilethe results for 12C and 16O nuclei are better in harmonic-oscillatorpotential. The calculated elastic charge form factors in Woods-Saxonpotential are better than the results of harmonic-oscillator potential.Finally, the calculated root mean square radii usingWoods-Saxonpotentials ho

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Publication Date
Mon Dec 28 2020
Journal Name
Journal Of The College Of Education For Women
Penalty of Semi-Intentional Killing Offence according to the Egyptian and Algerian Penal Law: An Evaluative Study from the Islamic Viewpoint: محمد جبر السيد عبد الله جميل
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The study aims at  evaluating  the penalty of  semi- intentional killing felony in the Egyptian and Algerian criminal law following the Islamic Law (Shari'a). The  study used the descriptive, evalutive and analytical  methodology  to  reach the topic in question. To meet the theoretical significance of the study, much data has been collected to give a comprehensive picture about the topic under examination. As for the practical significance of the study, it helps the juridical power to reconsider and phrase the legal materials of the semi-intentional killing penalty based on the Islamic law. The study has come to the conclusions that the Islamic Law (Shari'a) imposes a compensation (blood-money) to be g

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Publication Date
Mon Feb 13 2023
Journal Name
Journal Of Educational And Psychological Researches
A Blended Learning Program Based on the Next Generation Standards (NYS) to Develop the Teaching Performance of Middle School Mathematics Teachers and Some Students’ Future Thinking Skills
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Abstract

The aim of the current research is to prepare an integrated learning program based on mathematics standards for the next generation of the NYS and to investigate its impact on the development of the teaching performance of middle school mathematics teachers and the future thinking skills of their students. To achieve the objectives of the research, the researcher prepared a list of mathematics standards for the next generation, which were derived from a list of standards. He also prepared a list of the teaching competencies required for middle school mathematics teachers in light of the list of standards, as well as clarified the foundations of the training program and its objectives and the mathematical

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Publication Date
Tue Sep 28 2021
Journal Name
Journal Of The College Of Education For Women
Reasons for Lying in Kindergarten Children from the Kindergarten Teachers’ Point of View: A Comparative Study between Males and Females: سجلاء فائق هاشم , كلثوم عبد عون ردام
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Lying is considered a dangerous tendency among children if it has become a habit. It results in many social problems, such as child’s loss of confidence, lack of others’ respect to him, and his lack of respect to the desired values ​​of the society, such as honesty and trust. Consequently, he will be led to a deviation when he becomes old; especially if the child’s socially unaccepted behavior has not been directed. The research, thus, aims to examine the causes of lying in the most important stage of children’s life; that is, between (4-6) years. Such an aim helps to know about the individual reasons of lying among males and females from teachers’ perspectives. To meet the objective of the study, a number of (128) children

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Publication Date
Sun Dec 04 2016
Journal Name
Baghdad Science Journal
Synthesis, Spectral and Dyeing Performance Studies of 4-(2-Aminmo-5-nitro-phenylazo)-1,5-dimethyl-2-phenyl-1,2-dihydro-pyrazol-3-one Complexes with Some Metal Ions
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The ligand 4-(2-aminmo-5-nitro-phenylazo)-1,5-dimethyl-2-phenyl-1,2-dihydro-pyrazol-3-one derived from 4-aminoantipyrine and 4-nitroaniline was synthesized. The synthesized ligand was characterized by 1HNMR, FT-IR, UV-Vis spectra and (C.H.N) analysis. Complexes of (YIII and LaIII ) with the ligand were prepared in aqueous ethanol with a 1:2 M:L ratio and at optimum pH. The prepared complexes were characterized by using flame atomic absorption, FT-IR, UV-Vis spectra,(C.H.N) analysis and conductivity measurement. The stoichiometry of complexes was studied by the mole ratio and job methods. A concentration range (1×10-4 - 3×10-4 M) obeyed Beer's law, the complex solutions show high values of molar absorption. On the basis of physicochemical

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Publication Date
Fri Apr 27 2012
Journal Name
Al-qadisiyah Journal For Science
Synthesis and Characterization of azo Compound 5-(2-Benzoic acid azo)-8-hydroxy quinoline as Bidentate Ligand and It’s Complexeswith Co (II), Ni (II) and Cu (II) .
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Coupling reaction of 2-amino benzoic acid with the 8-hydroxy quinoline gave the azo ligand (H2L): 5-(2-benzoic acid azo )-8-hydroxy quinoline.Treatment of this ligand with some metal ions (CoII, NiII and CuII ) in ethanolic medium with a (1:2) (M:L) ratio yielded a series of neutral complexes with general Formula[M(HL)2],where: M=Co(II), Ni(II) and Cu(II), HL=anion azo ligand (-1).The prepared complexes were characterized using flame atomic absorption,FT-IR and UV-Vis spectroscopic methods as well as magnetic susceptibility and conductivity measurements.

Publication Date
Sat Sep 30 2023
Journal Name
College Of Islamic Sciences
The hadiths of Abdullah bin Amr bin Al-Aas، may God be pleased with them، that there is no room for diligence in them ((collecting and studying))
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Research Summary


The research revolves around the collection of pending hadiths on Abdullah bin Amr bin Al-Aas, may God be pleased with them, and it is required in these hadiths that they be among those in which there is no room for diligence, such as telling about unseen matters, signs of the Hour, or a statement of virtue and reward for obedience, or punishment for disobedience.

The research consists of an introduction, two topics, and a conclusion of the first topic in the translation of Abdullah bin Amr bin Al-Aas, and the second topic, the pending hadiths of Abdullah bin Amr bin Al-Aas, may God be pleased with them, in which there is no room for diligence in collecting and studying

At the end of this rese

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