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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
Sun Aug 30 2020
Journal Name
Journal Of Economics And Administrative Sciences
Influence of Determinants of Investor Behavior in Making Investment Decision “Research Applied in the Market Iraq Stock Exchange"
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The investment decision, a critical decision for each investor as it involves risks and uncertain returns, so investors should avoid cases of uncertainty associated with the final decisions they are involved, and the problem of research in individual differences and differences in the behavior of individual investors and reflect the impact of this investment decision in the Iraqi market for securities. Therefore, the research aims to understand and analyze the impact of determinants of investor behavior as an independent variable in investment decision-making as a dependent variable in the Iraqi market for securities, and the research started from two main hypotheses to explore the influence and correlation between research varia

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Publication Date
Tue Dec 31 2019
Journal Name
Journal Of Economics And Administrative Sciences
The Role of personality characteristics of Leader in Business organizations entrepreneurship with strategic flexibility mediated (A Field Research)
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    The personality characteristics of the Leader are considered one of the main elements to reach into business organizations entrepreneurship; and because of the development of the organizations of the continuous transformations as result of huge Competition in private High Education sector, there is a great need for Leaders characterized of certain personality capable of managing their organizations and can positively effect on them. Also these organizations' success to reach into entrepreneurship requires a main significant element that is (strategic flexibility) which is considered one of the important elements for success.

    Accordingly, this research is trying to fin

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Publication Date
Mon Jan 01 2024
Journal Name
Aip Conference Proceedings
Ground state properties of Beryllium isotopes using the radial wave functions of harmonic-oscillator and modified Bessel functions
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Publication Date
Sat Dec 30 2023
Journal Name
Iraqi Journal Of Chemical And Petroleum Engineering
Kinetic Modeling of Electromembrane Extraction of Copper using a Novel Electrolytic Cell Provided with a Supported Liquid Membrane
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   The aim of this study is to investigate the kinetics of copper removal from aqueous solutions using an electromembrane extraction (EME) system. To achieve this, a unique electrochemical cell design was adopted comprising two glass chambers, a supported liquid membrane (SLM), a graphite anode, and a stainless-steel cathode. The SLM consisted of a polypropylene flat membrane infused with 1-octanol as a solvent and bis(2-ethylhexyl) phosphate (DEHP) as a carrier. The impact of various factors on the kinetics constant rate was outlined, including the applied voltage, initial pH of the donor phase solution, and initial copper concentration. The results demonstrated a significant influence of the applied voltage on enhancing the rate of c

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Publication Date
Wed Oct 17 2018
Journal Name
Journal Of Economics And Administrative Sciences
Agricultural loans and Agricultural Investment in Iraq INSTRUCTOR. OMAR HAMEED MAJEED/ COLLEGE of ADMINISTRATION & ECONOMICS/ UNIVERSITY of BAGHDAD
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Agricultural loans play an important role in the growth and stimulation of agricultural investment opportunities in Iraq, as well as the sustainability and development of existing agricultural projects. The agricultural sector is characterized by the specific conditions of seasonal production and fluctuations in production conditions, which makes the situation of uncertainty more acute in this sector, the need for any agricultural project for financing is urgent and continuous if it wants to continue production and development at all stages. The study proved the impact of agricultural loans in increasing investment and agricultural production at specific times, However, the fluctuation of funding

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Publication Date
Wed Jan 31 2024
Journal Name
Iraqi Geological Journal
Estimation of Rock Mechanical Properties of the Hartha Formation and their Relationship to Porosity Using Well-Log Data
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The physical and elastic characteristics of rocks determine rock strengths in general. Rock strength is frequently assessed using porosity well logs such as neutron and sonic logs. The essential criteria for estimating rock mechanic parameters in petroleum engineering research are uniaxial compressive strength and elastic modulus. Indirect estimation using well-log data is necessary to measure these variables. This study attempts to create a single regression model that can accurately forecast rock mechanic characteristics for the Harth Carbonate Formation in the Fauqi oil field. According to the findings of this study, petrophysical parameters are reliable indexes for determining rock mechanical properties having good performance p

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Publication Date
Tue Mar 30 2021
Journal Name
Baghdad Science Journal
Detection of Leishmania tropica Using Nested-PCR and Some of Their Virulence Factors in Thi-Qar Province, Iraq
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Cutaneous leishmaniasis is one of endemic diseases in Iraq. It is considered as widely health problem and is an uncontrolled disease. The aim of the study is to identify of Leishmania species that cause skin lesions among patients in Thi-Qar Province, South of Iraq, also to detect some virulence factors of L. tropica. This study includes three local locations, Al-Hussein Teaching, Suq Al-Shyokh General and Al-Shatrah General Hospitals in Province for the period from the beginning of December 2018 to the end of September 2019. The samples were collected from 80 patients suffering from cutaneous leishmaniasis, both genders, different ages, various residence places and single and multiple lesions. Nested-PCR technique was

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Publication Date
Sat Apr 13 2024
Journal Name
مجلة واسط للعلوم الریاضیة
The development of the leading Arab scouting movements and their role in the development of youth and society
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the history of the Scouting movement reflects the global social cultural and technological change over more than a century. scouting aims to develop young people worldwide through educational programs based on specific principles and values. in arab countries, the scouting movement is considered one of the most important platforms contributing to developing young people and enhancing their rule. positive in society, began with the establishment of the first Scout camp in the region and witnessed great growth and prosperity over the decades the research reveals the historical roots and development of the scout movement in the leading arab countries and analyzes the positive impact of scout movement in the leading arab countries on the develo

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Publication Date
Sun Apr 08 2018
Journal Name
Al-khwarizmi Engineering Journal
Study the Effect of Welding Heat Input on the Microstructure, Hardness, and Impact Toughness of AISI 1015 Steel
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In the present study, MIG welding is carried out on low carbon steel type (AISI 1015) by using electrode ER308L of 1.5mm diameter with direct current straight polarity (DCSP). The joint geometry is of a single V-butt joint with one pass welding stroke for different plate thicknesses of 6, 8, and 10 mm. In welding experiments, AISI 1015 plates with dimensions of 200×100mm and edge angle of 60o from both sides are utilized. In this work, three main parameters related to MIG welding process are investigated, which are welding current, welding speed, heat input and plate thickness, and to achieve that three groups of plates are employed each one consists of three plates. The results indicate that increasing the weld heat input (t

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Publication Date
Fri Dec 25 2015
Journal Name
Iraqi Dental Journal
Comparison of Some Mechanical Properties of Silanated SiO2 and Polyester Fiber Composite Incorporation into Heat Cured Acrylic Resin.
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