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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 Nov 01 2022
Journal Name
Chemical Methodologies
Study of Optical and Structural Properties of CdTe Quantum Dots Capped with 3MPA Using Hydrothermal Method
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Quantum dots (QDs) can be defined as nanoparticles (NPs) in which the movement of charge carriers is restricted in all directions. CdTe QDs are one of the most important semiconducting crystals among other various types where it has a direct energy gap of about 1.53 eV. The aim of this study is to exaine the optical and structural properties of the 3MPA capped CdTe QDs. The preparation method was based on the work of Ncapayi et al. for preparing 3MPA CdTe QDs, and hen, the same way was treated as by Ahmed et al. via hydrothermal method by using an autoclave at the same temperature but at a different reaction time. The direct optical energy gap of CdTe QDs is between 2.29 eV and 2.50 eV. The FTIR results confirmed the covalent bonding betwee

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Publication Date
Sat Feb 02 2019
Journal Name
Biochemical And Cellular Archives
Effect of Seed Alkaloids of Peganum Harmala on Histological and Some Blood Parameters in Male Mice
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Publication Date
Fri Mar 03 2023
Journal Name
International Journal Of Mechanics
CFD Investigation of the Soldering Process for a Small Spherical PCM Made of Lead-tin Alloy
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Unlike welding, soldering does not involve melting the work pieces. Soldering is a process in which two or more items are joined together by melting and putting a filler metal (solder) into the joint. Failure in the solder joint may make the system components lose their functions. Electrical wiring and electronic components are joined to devices and printed circuit boards using soldering. Soldering and brazing are both used in the assembly of musical instruments. Lead-tin alloy solder employed in the current investigation which has a diameter of 4 mm and a density of 11.0103 kg/m3 with continuous heat flux heating from the domain's left side and complete insulation on the other side. The melting of PCM was simulated using the ANSYS

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Publication Date
Wed Jun 29 2022
Journal Name
Journal Of The College Of Education For Women
The Reality of Teachers’ Use of Modern Technologies in Teaching Arabic as a Second Language in Terms of Objectives and Selection Foundations at the Institute of Arabic Language in Umm Al-qura University Mamoun Eltigani Hassan Eldali
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This study aims to know the degree of importance and the availability of the enhancing specifications of the educational process, and the way its objectives are achieved. Such a step involves using educational techniques, laying the selection foundations, knowing the methods of their employment and tracking the obstacles that limit this employment in teaching Arabic to non-native speakers. To achieve these objectives, the study followed a descriptive approach, and collected the necessary data through an integrated questionnaire prepared for the purpose of describing the phenomenon or topic. This approach was adopted, as it is characterized by being comprehensive, focuses on collecting data related and necessary to the topic under study.

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Publication Date
Mon Jan 28 2019
Journal Name
Journal Of The College Of Education For Women
The RoleThe Role of the Arbitration Treaty and Decisiveness in the Consolidation of Relations Between Britain and France (1903-1904) of the Arbitration Treaty and Decisiveness in the Consolidation of Relations Between Britain and France (1903-1904)
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The Risks Faced by Britain in their Areas of Influence at the Beginning of the Twentieth Century Drove her to the Alliance with the State of European such as France, and Contributed to the Tireless and made by the British and French Politicians in the Consolidation of Friendly Relations between the two Countries Efforts and Strengthened Cooperation in a Positive Way to Visit the king of Britain's Edward VII to France, Offset by Visit French President Loubet to Britain in the Same Year, those Negotiations Bore Fruit between the two Countries for Reaching a Contract Arbitration and Decisiveness between Britain and France Treaty on the Fourteenth of November 1903, Promised that Treaty First Step that Paved the Way for a General Agreement be

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Publication Date
Tue Sep 15 2020
Journal Name
Al-academy
The Philosophy of Beauty and Aesthetic Tasting in the Story of Yusuf, peace be upon him, with the Al-Azeez’s Wife in light of the sayings of Ancient Philosophers and Modernists: نزار بن صالح أحمد عبد الحفيظ
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This study aimed to review the aesthetic miracle in the story of Yusuf, peace be upon him, with the Al-Azeez’s wife, using the historical, descriptive and analytical approaches. The study sample was determined in the verses (30-34) of the Holy Quran. The study found that the beauty of Yusuf, peace be upon him, went beyond the four stages and steps of the aesthetic judgment that Feldman set, in which Yusuf’s beauty is nothing but a divine miracle that cannot be described, analyzed, and interpreted. Also despite the various concepts of beauty dealt with by ancient Greek philosophers such as the Pythagoreans, Socrates, Plato and Aristotle; and modern philosophers such as Descartes, Diderot, Kant, Hegel, and Schopenhauer are embodied in

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Publication Date
Sun Jun 02 2019
Journal Name
Journal Of The College Of Languages (jcl)
The vision of Hebrew writers and critics of the future of the Jews in their writings at the end of the 19th century and the beginning of the twentieth c: דעותיהם של הסופרים והמבקרים העבריים על עתידם של היהודים לפי כתבותיהם בשלהי המאה ה-19 ובתחילת המאה ה-20
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It is very known  how great is the  role of the Jewish writers in the system of the Zionist movement. The movement relied on writers and writers to carry out their programs, especially those pertaining to the creation of a "national homeland" for Jews. Most Jewish writers sang of  Palestine even though they were not born there.

    On such a  basis, we have followed closely the writings of writers, critics and others by the end of the nineteenth century and the beginning of the twentieth century. We found that these writings are based on one common question: What is the fate of the Jewish people?

    Most of these writings were accompanied by Theodor Herzl's proj

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Publication Date
Sun Sep 01 2019
Journal Name
Journal Of Global Pharma Technology
Calculation of Stabilization Energy of Tetrahedrane with its Nitrogen Substituted Derivatives by DFT Method and Driving an Empirical Relation Connect it with Charge Functions of the Molecule
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In this work the strain energy of tetrahedrane and its nitrogen substituted molecules were calculated by isodesmic reaction method according to DFT quantum chemical fashion, the used basis set was 6-31G/B3-LYP, in addition all structures were optimized by RM1 semi-empirical method. From the obtained data we estimate an empirical equation connect between strain energy of the molecule with charge functions represented by dipole moment of the molecule plus accumulated charge density involved within the tetrahedron frame plus the number of nitrogen atoms. The results indicate the charge spreading factors by polarization and processes are the most important factors in decreasing the strain energy.

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Publication Date
Fri Feb 07 2025
Journal Name
Revista Iberoamericana De Psicología Del Ejercicio Y El Deporte, Issn 1886-8576, Vol. 16, Nº. 3, 2021
The effect of a rehabilitation program using a tens device for the treatment of pain and impaired mobility of the wrist and limbs joint in basketball players
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Autorías: Hadeer Idan Ghanim, Ishraq Mahmood. Localización: Revista iberoamericana de psicología del ejercicio y el deporte. Nº. 3, 2021. Artículo de Revista en Dialnet.

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Scopus
Publication Date
Fri Feb 07 2025
Journal Name
Al–bahith Al–a'alami
The strategy of Marketable Public Relations Internationally Analytical study of the websites of “ Apple “ and “Samsung “ on the internet: (A research drawn from a Master Degree thesis)
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The international organizations showed their interest in the marketable public relations, with their activities, means and strategies, they play a crucial role in marketing products, services and ideas of the institution. They are considered to be the link between the company and its public, They are responsible for presenting the institution to the public, with honest transmission of the information. This gives a good impression to the institution, in a way the institution and its products become consistent with the needs and interests of the public.  Based on this, the research aims to identify the strategies used by the marketable public relations internationally.  The r

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