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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
Sat Apr 07 2018
Journal Name
Civil Engineering Journal
Behavior of Precast Prestressed Concrete Segmental Beams
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The structural behavior of Segmental Precast Post-tensioned Reinforced Concrete (SPPRC) beams largely depends on the behavior of the joints that connect between the segments. In this research, series of static tests were carried out to investigate the behavior of full-scale SPPRC beams with different types of epoxy-glued joint configurations; multi-key joint, single key, and plain key joint. The reference specimen was monolithically casted beam and the other specimens were segmental beams with five segments for each one. The general theme from the experimental results reflects an approximate similarity in the behavior of the four beams with slight differences. Due to the high tensile strength of the used epoxy in comparison to concr

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Publication Date
Tue Sep 14 2021
Journal Name
Nature Reviews Microbiology
Towards an integrative view of virus phenotypes
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Publication Date
Thu Mar 10 2016
Journal Name
International Journal Of Current Microbiology And Applied Sciences
Survey of Coleopteran Insects on Alfalfa Plant
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Publication Date
Mon Apr 01 2002
Journal Name
Renewable Energy
The optoelectronic properties of CdSe:Cu photoconductive detector
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Publication Date
Wed Apr 01 2020
Journal Name
Journal Of Construction Engineering And Management
Development of Assessment Tool for Workforce Sustainability
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Publication Date
Thu Feb 23 2023
Journal Name
Chalcogenide Letters
Fabrication and evaluation of CuAlSe2/Si photodetector
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In this work, we have examined the spectral response of (p-CuAlSe2/n-Si) detector, (CAS) thin films deposited by thermal evaporation at RT with a thickness (450) nm, and annealing temperature at (473K) for 2 h. Optical transmission measurements displayed reasonably slight transmission besides higher absorbance trendy the visible region, energy gaps were observed by annealing, were found to be direct, and decreased with the effect of annealing. The extreme responsivity value arises at wavelength 459 nm, with improvement value of specific detectivity and quantum efficiency the annealing films be situated originate as greatest suitable aimed at numerous device application.

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Publication Date
Tue Jan 01 2019
Journal Name
Journal Of Craniofacial Surgery
The Fate of the Mandibular Reconstruction Plate
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Publication Date
Sun May 15 2022
Journal Name
Bionatura
Survey the Microbial Load in the Tigris River in South of Baghdad City and Some of the Physiochemical Parameters
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This study included an analysis of three stations (Al Dora, Al Za'franiya, and Arab Ejbur) chosen to study the Physiochemical and microorganism (Fungi and Bacteria) loud of the Tigris River in the southern section of Baghdad city. The result of this research shows that the highest temperature recorded in summer in Al Za'franiya was 37Co, while the lowest temperature recorded in winter in Al Dora was 9Co. and the value of pH recorded the highest in summer it was 7.9 in Arab Ejbur, and the lowest value was in winter 7.1 in Al Dora regions, While Total Organic Carbon (TOC) shows the highest values found in the summer was 6.7 Mg L-1in Al Za'franiya Samples, and the lowest values were 2.0 Mg L-1in Arab Ejbur during the winter. The more f

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Publication Date
Tue Dec 01 2020
Journal Name
Journal Of Economics And Administrative Sciences
The effect of liquidity on the profitability and value of banks listed on Iraq stock market (An analytical study)
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  The purpose of the study is to analyze the extent of the impact of liquidity as an independent variable on profitability as an intermediate variable and the value of banks listed in the Iraq Stock Exchange as a dependent variable, as the research problem is summarized by the fact that most banks focus on profitability as a phased goal without focusing on maximizing its value as a strategic goal by enhancing the wealth of owners and shareholders. On the long term, the research community is represented by the banks listed on the Iraq Stock Exchange, while the research sample was deliberately chosen, which included three private banks such as Baghdad Commercial Bank, the Iraqi Commercial Bank and the Iraqi Investment Bank, an

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Publication Date
Fri Jun 30 2023
Journal Name
Iraqi National Journal Of Nursing Specialties
Effectiveness of Instruction Program on Teachers’ Performance of Counseling for Primary School Pupils regarding Attention Deficit and Hyperactivity Disorder
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Objective(s): To evaluate teachers’ performance of counseling for pupils with Attention Deficit and Hyperactivity Disorder, to identify the relationship between Teachers’ Performance of Counselling for Pupils with Attention Deficit and Hyperactivity Disorder and their demographic.

Methodology: A quasi-experimental (pre-posttest) design was carried out to evaluate teachers’ performance of counseling for pupils with Attention Deficit and Hyperactivity Disorder, at Al-Firdous mixed primary School and to find out the association between teachers' performance about Attention Deficit and Hyperactivity Disorder and their socio-demographic characteristic. The study was started from 18th September 2

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