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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 15 2008
Journal Name
Journal Of Kerbala University
Synthesis and Characterization of New Ligand type N2O2 and its complexes with (Co(II),Ni(II),Cu(II),Zn(II) and Cd(II) ions
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The [2-hydroxy-1, 2-diphynel-ethanone oxime] was reacted with 1, 2-dichloroethan to give the new ligand [H2L]. this ligand was reacted with some metal ions (Co (II), Ni (II), Cu (II), Zn (II) and Cd (II) in methanol as a solvent to give a series of new (1: 1) complexes of the general formula [M (HL)] Cl,(where: M= Co (II), Ni (II), Cu (II), Zn (II) and Cd (II)) are isolated All compounds have been characterized by spectroscopic methods [IR, UV-Vis] atomic absorption. Chloride content along with conductivity measurements. From the above data the proposed molecular structure for (Co, Cu, Ni, Zn and Cd) complexes adopting a tetrahedral structure

Publication Date
Tue Oct 01 2019
Journal Name
Karbala Journal Of Physical Education Sciences
Effect of use a designed device to develop some biochemical variables for rear vault dismount with one-half twist on parallel bars in gymnastics
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The research included five sections containing the first section on the introduction o research and its importance and was addressed to the importance of the game of gymnastic and skilled parallel bars effectiveness and the importance of biochemical variables, either the research problem that there is a difference in learning this skill and difficulty in learning may be one of the most important reasons are falling and injury Has a negative impact on the performance and lack of sense of movement of is one of the obstacles in the completion of the skill and the goal of research to design a device that helps in the development of biochemical changes to skill of rear vault dismount with one-half twist on parallel bars in gymnastics . And the n

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Publication Date
Sat Jun 01 2024
Journal Name
Results In Materials
Fabrication and characterization of mesoporous calcium silicate and silver-incorporated mesoporous calcium silicate nanoparticles with low cytotoxicity and antibacterial properties as a dental biomaterial
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Publication Date
Tue Apr 18 2023
Journal Name
Corporate Reputation Review
The Absorptive Capacity of Knowledge as an Approach for Building Strategic Reliability in the Sponge Organizations/Small Organizations in Kirkuk Governorate as a Model
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Publication Date
Mon Apr 04 2016
Journal Name
European Journal Of Oral Sciences
Experimental polyethylene-hydroxyapatite carrier-based endodontic system: an in vitro study on dynamic thermomechanical properties, sealing ability, and measurements of micro-computed tomography voids
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The dynamic thermomechanical properties, sealing ability, and voids formation of an experimental obturation hydroxyapatite-reinforced polyethylene (HA/PE) composite/carrier system were investigated and compared with those of a commercial system [GuttaCore (GC)]. The HA/PE system was specifically designed using a melt-extrusion process. The viscoelastic properties of HA/PE were determined using a dynamic thermomechanical analyser. Human single-rooted teeth were endodontically instrumented and obturated using HA/PE or GC systems, and then sealing ability was assessed using a fluid filtration system. In addition, micro-computed tomography (μCT) was used to quantify apparent voids within the root-canal space. The data were statistically analys

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Publication Date
Mon Oct 11 2021
Journal Name
Nano Hybrids And Composites
Far Infrared Laser Detector Based on Multi-Walled Carbon Nanotubes and Blend of (Polyaniline - Polymethyl Methacrylate) Polymers with Methyl Blue Dye for Photoconductive Applications
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Infrared photoconductive detectors working in the far-infrared region and room temperature were fabricated. The detectors were fabricated using three types of carbon nanotubes (CNTs); MWCNTs, COOH-MWCNTs, and short-MWCNTs. The carbon nontubes suspension is deposited by dip coating and drop–casting techniques to prepare thin films of CNTs. These films were deposited on porous silicon (PSi) substrates of n-type Si. The I-V characteristics and the figures of merit of the fabricated detectors were measured at a forward bias voltage of 3 and 5 volts as well as at dark and under illumination by IR radiation from a CO2 laser of 10.6 μm wavelengths and power of 2.2 W. The responsivity and figures of merit of the photoconductive detector

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Publication Date
Mon Jan 28 2019
Journal Name
Journal Of Accounting And Financial Studies ( Jafs )
The Managerial Skills and It`s Role in Strengthening the Competitive Edge of Companies: A Case Study in the General Company for Construction Industries
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This research tries to reveal how to manage and control the competitive edge for business by building managerial skills in various organizational levels. Our research aims at finding out the nature of various technical, human and in tellectual skills of a new president whose superiority is his competitive ness in the application field at general company for construe tioual  industriesand testing the surveyed minor and major changes through a questionnaire to collect information from officials. The sample was composed of (45) director. The data was analyzed  using some methods and statistical programs. The most prominent of these is (SPSS) that was used to extract the arithmetic mean, standard deviation, correlation coefficient

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Publication Date
Sun Mar 01 2020
Journal Name
Journal Of Colloid Interface Science
Corrigendum to “Organic acid concentration thresholds for ageing of carbonate minerals: Implications for CO2 trapping/storage” [J. Colloid Interface Sci. 534 (2019) 88–94]
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Erratum for Organic acid concentration thresholds for ageing of carbonate minerals: Implications for CO2 trapping/storage.

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Publication Date
Thu Aug 01 2013
Journal Name
Desalination And Water Treatment
Competitive biosorption of Pb(II), Cr(III), and Cd (II) from synthetic wastewater onto heterogeneous anaerobic biomass in single, binary, and ternary batch systems
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Biosorption of lead, chromium, and cadmium ions from aqueous solution by dead anaerobic biomass (DAB) was studied in single, binary, and ternary systems with initial concentration of 50 mg/l. The metal-DAB affinity was the same for all systems. The main biosorption mechanisms were complexation and physical adsorption of metallic cations onto natural active functional groups on the cell wall matrix of the DAB. It was found that biosorption of the metallic cations onto DAB cell wall component was a surface process. The main functional groups involved in the metallic cation biosorption were apparently carboxyl, amino, hydroxyle, sulfhydryl, and sulfonate. These groups were part of the DAB cell wall structural polymers. Hydroxyle groups (–O

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Publication Date
Sat Nov 22 2014
Journal Name
Indian Journal Of Physics
Comparison between shell model and self-consistent mean field calculations for ground charge density distributions and elastic form factors of 12C and 16O nuclei
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