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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 Jan 01 2019
Journal Name
Baghdad Science Journal
Synthesis of new five-membered hetrocyclic compounds from 2-furfuryl mercaptan derivative and evaluation of their biological activity
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A theoretical and protection study was conducted of the corrosion behavior of carbon steel surface with different concentrations of the derivative (Quinolin-2-one), namly (1-Amino-4,7-dimethyl-6-nitro-1H-quinolin-2-one (ADNQ2O)). Theoretically, Density Functional Theory (DFT) of B3LYP/ 6-311++G (2d, 2p) level was used to calculate the optimized geometry, physical properties and chemical inhibition parameters, with the local reactivity to predict both the reactive centers and to locate the possible sites of nucleophilic and electrophilic attacks, in vacuum, and in two solvents (DMSO and H2O), all at the equilibrium geometry. Experimentally, the inhibition efficiencies (%IE) in the saline solution (of 3.5%) NaCl were studied using potentiomet

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Scopus
Publication Date
Fri Jan 01 2021
Journal Name
International Journal Of Agricultural And Statistical Sciences
EFFECT OF IRRIGATION UNIFORMITY AND EFFICIENCY ON WATER CONSUMPTION, YIELD OF MAIZE USING DIFFERENT IRRIGATION AND CULTIVATION METHODS
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Two field experiments were carried out for cultivating yellow maize crop Zea mays L. during the autumn planting season 2019 in two sites with soils of different textures. The first site is a loamy texture in one of the fields of the Medhatia Agriculture Division, Babylon Governorate. The second was silty loam by an alluvial mixture in one of the fields of Al-Nouriah Research Station, Ministry of Agriculture located in Al-Nouriah sub-district, Al-Qadisiyah governorate. It was found through the results that the uniformity, efficiency, and adequacy of the irrigation efficiency of the sprinkler irrigation method is better than that of the sprinkler irrigation method, and it ranged between (88.6-88.7) for uniformity and (84-86)% of the irrigatio

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Scopus
Publication Date
Mon Dec 01 2025
Journal Name
Journal Of Engineering
Effect of Repeated Earthquakes on Al-Adhaim Earth Dam Factor of Safety and Seismic Improvement Using Stone Columns
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Earth dams in regions with moderate to high seismic activity are crucial for protecting downstream communities. Iraq and its neighboring areas have seen recurrent seismic activity, notably the 2017 Halabja Earthquake, which potentially compromised the integrity of the existing earth dam. The Darbandikhan Dam, affected by an earthquake, has inadequacies in its crest and downstream slope, presenting a greater danger of significant earthquake-induced damage compared to cyclic shocks.  Consequently, evaluating the dam's safety is essential for safeguarding downstream residents and identifying optimal ways to avert slope stability failure amid recurrent seismic activity. Iraq's seismicity map is being updated to reflect earthquake magni

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Publication Date
Thu Jun 01 2023
Journal Name
Iraqi Journal Of Physics
Assessment of the Natural Radioactivity Levels of Soil Samples in IT1 Oil Reservoirs in Kirkuk City, Northeast Iraq
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In this study, gamma-ray spectrometry with an HPGe detector was used to measure the specific activity concentrations of 226Ra, 232Th, and 40K in soil samples collected from IT1 oil reservoirs in Kirkuk city, northeast Iraq. The “spectral line Gp” gamma analysis software package was used to analyze the spectral data. 226Ra specific activity varies from 9  0.34 Bq.kg-1 to 17  0.47 Bq.kg-1. 232Th specific activity varies from 6.2  0.08 Bq.kg-1 to 18  0.2 Bq.kg-1. 40K specific activity varies from 25  0.19 Bq.kg-1 to 118  0.41 Bq.kg-1. The radiological hazard due to the radiation emitted from natural r

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Publication Date
Wed Jul 24 2024
Journal Name
An International Journal Of Optimization And Control: Theories &amp; Applications (ijocta)
The effect of a psychological scare on the dynamics of the tumor-immune interaction with optimal control strategy
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Contracting cancer typically induces a state of terror among the individuals who are affected. Exploring how chemotherapy and anxiety work together to affect the speed at which cancer cells multiply and the immune system’s response model is necessary to come up with ways to stop the spread of cancer. This paper proposes a mathematical model to investigate the impact of psychological scare and chemotherapy on the interaction of cancer and immunity. The proposed model is accurately described. The focus of the model’s dynamic analysis is to identify the potential equilibrium locations. According to the analysis, it is possible to establish three equilibrium positions. The stability analysis reveals that all equilibrium points consi

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Publication Date
Sat Nov 01 2025
Journal Name
Iop Conference Series: Earth And Environmental Science
The effect of large-scale engineered roughness elements on the hydraulics of the Shatt al-Arab estuary: Methodology
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Abstract<p>Erosion and deposition are natural phenomena in the river estuaries that could be presented as a dynamic process involving removing materials from one location and accumulating these materials at other locations. These two phenomena may cause changes in waterways and affect offshore structures. The Shatt Al-Arab River Estuary, Iraq was greatly affected by these two phenomena, and topography changes occurred. Velocity profiles and bed shear stress can be used as indicators to identify the erosion and deposition locations. Large-scale roughness elements proved to make beneficial changes in the hydraulic properties of open channels. They can create desirable effects to control erosion</p> ... Show More
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Publication Date
Sat Aug 31 2019
Journal Name
Association Of Arab Universities Journal Of Engineering Sciences
Improvement of Economic Water Productivity of Cucumber by using Soil Water Retention Technology under Subsurface Trickle Irrigation System
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Subsurface soil water retention (SWRT) is a recent technology for increasing the crop yield, water use efficiency and then the water productivity with less amount of applied water. The goal of this research was to evaluate the existing of SWRT with the influence of surface and subsurface trickle irrigation on economic water productivity of cucumber crop. Field study was carried out at the Hawr Rajab district of Baghdad governorate from October 1st, to December 31st, 2017. Three experimental treatments were used, treatment plot T1 using SWRT with subsurface trickle irrigation, plot T2 using SWRT with surface trickle irrigation, while plot T3 without using SWRT and using surface tickle irrigation system. The obtained results showed th

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Publication Date
Wed Mar 18 2020
Journal Name
International Journal Of Research In Social Sciences And Humanities
THE EFFECT OF EXERCISE SPECIFIC TO USE DESIGNER (QUALITY RESPONSE) DEVICE TO DEVELOP THE SPEED AND ACCURACY OF THE RECEPTION AND PASSING SKILLS OF FOOTBALL PLAYERS IN AGES (14 YEARS)
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Publication Date
Sun Jun 01 2014
Journal Name
Journal Of Accounting And Financial Studies ( Jafs )
Suggested Model for The Work of the Certified Fraud Examiner & His Role in Reducing The Incidents of Fraud and Corruption: An Applied Study in The Federal Board of Supreme Audit
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Is hardly day expire without hearing the news either Abuse Managementthe accounting standards or the existence of serious misstatements by someauditors.Which caused the demanding of many companies in the recent republication of the financial statements and the re-announcement of its financialresults. Such acts raise questioning about the role that should be played by theauditors, prompting agencies responsible for setting auditing standards to takeTo throw increasingly responsibility on the auditors in order to interest risksfraud The Risks of Fraud in their review of the financial statements.also The Public Company Accounting Oversight Board in the U.S.called about the need of owning the Certified Public Accountants those whoaudits for

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Publication Date
Wed Mar 23 2022
Journal Name
Journal Of Educational And Psychological Researches
The Actual Use of Instructional Technology in Teaching History Subject in the Colleges of Education for Humanities from the of the College Staff Members' Perspectives and their Attitudes Towards Them
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The study aims at knowing the actual uses of instructional technology in teaching history subject in the colleges of education for humanities from the college staff members' perspectives and their attitudes towards it. The sample of the study consisted of (24) instructors from the Colleges of Education for the Humanities, the College of Basic Education- Haditha and the College of Education for Women, the study used the descriptive method, and the questionnaire was consisted of (50) items, and the psychometric properties of the instrument of the study were extracted. The researchers used the appropriate statistical means to analyze the data, and the results of the study showed the following: the teaching staff attitudes towards the use of

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