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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 Dec 02 2023
Journal Name
Journal Of Engineering
Evaluation of the Stability and Flow of Asphalt Concrete Produced with Waste Brick Tile Powder as a Filler
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The utilization of recycled brick tile powder as a replacement for conventional filler in the asphalt concrete mix has been studied in this research. This research evaluates the effectiveness of recycled brick tile powder and determines its optimum replacement level. Using recycled brick tile powder is significant from an environmental standpoint as it is a waste product from construction activities. Sixteen asphalt concrete samples were produced, and eight were soaked for a day. Samples contained 5% Bitumen, 2% to 5% brick tile powder, and conventional stone dust filler. The properties of samples were evaluated using the Marshall test. It was observed that the resistance to stiffness and deformation of asphalt concrete

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Publication Date
Tue Oct 01 2024
Journal Name
Journal Of Physics: Conference Series
An Effect of Al on the Properties of ZnIn<sub>2</sub>Se<sub>4</sub> Thin Film
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Abstract<p>Zinc-indium-selenide ZnIn<sub>2</sub>Se<sub>4</sub> (ZIS) ternary chalcopyrite thin film on glass with a 500 nm thickness was fabricated by using the thermal evaporation system with a pressure of approximately 2.5×10<sup>−5</sup> mbar and a deposition rate of 12 Å/s. The effect of aluminum (Al) doping with 0.02 and 0.04 ratios on the structural and optical properties of film was examined. The utilization of X-ray diffraction (XRD) was employed to showcase the influence of aluminum doping on structural properties. XRD shows that thin ZIS-pure, Al-doped films at RT are polycrystalline with tetragonal structure and preferred (112) orientation. Where the </p> ... Show More
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Publication Date
Fri Dec 15 2023
Journal Name
Journal Of Baghdad College Of Dentistry
Comparing the effectiveness of using three different re-mineralizing pastes on remineralisation of artificially induced white spot lesion
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Background: This study aimed to compare the surface microhardness (MH) and mineral content of white spot lesions(WSLs) after using bioactive glass (BAG)casein phosphopep-tides-amorphous calcium phosphate(CPP-ACP),and nanohydroxyapatite(Nano-HAP) under pHcycling. Material and method:18 sound maxillary first premolar were used for the study.10 were selected for the vickers microhardness test, For Energy-dispersive X-ray spectroscopy analysis (EDX), the remaining 8 premolar teeth were used, 40 sections of enamel blocks (Four from each tooth) were produced from the middle part of the buccal and palatal surfaces of teeth for MH test while 48 sections of enamel blocks (Six from each tooth) were produced for EDX analysis. Enamel slabs were

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Publication Date
Fri Mar 28 2025
Journal Name
Journal Of Physical Education
The effect of the four-pillar strategy on the performance of the transmission and preparation skills in volleyball
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The aim of the research is to prepare practical volleyball lessons by using the four pillars strategy for middle school students, and to identify the effect of the four pillars strategy in performing the transmission and volleyball skills in the second intermediate students, to assume that the two researchers assume that there are no statistically significant differences between the results of my skill performance tests Sending and preparing tribal and remote volleyball for the experimental and controlled groups, and there are no statistically significant differences between the results of the performance of the transmission and preparation skills of the volleyball between the two experimental and control groups, and the research co

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Publication Date
Sun Oct 01 2017
Journal Name
Journal Of Engineering
Study the Effects of Microwave Furnace Heat on The Mechanical Properties and Estimated Fatigue life of AA2024-T3
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This research aims to study the effect of microwave furnace heat on the mechanical properties and fatigue life of aluminum alloy (AA 2024-T3). Four conditions were used inside microwave furnace (specimens subjected to heat as dry for 30 and 60min. and specimens subjected to heat as wet (water) for 30 and 60 min.), and compared all results with original alloy (AA 2024-T3). Tensile, fatigue, hardness and surface roughness tests were used in this investigation. It is found that hardness of dry conditions is higher than wet conditions and it increases with increasing of time duration inside microwave furnace for dry and wet conditions. Also, tensile strength has the same behavior of hardness, but it increases with decreasing

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Publication Date
Sat Dec 02 2023
Journal Name
Journal Of Engineering
Discussion on the Structural Design Index and Design Method of Widening and Splicing Lane of Old Asphalt Pavement
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The splicing design of the existing road and the new road in the expansion project is an important part of the design work. Based on the analysis of the characteristics and the load effect of pavement structure on splicing, this paper points out that tensile crack or shear failure may occur at the splicing under the repeated action of the traffic load on the new/old pavement. According to the current structure design code of asphalt pavement in China, it is proposed that the horizontal tensile stress at the bottom of the splicing layer and the vertical shear stress at other layers of the splicing line should be controlled by adjusting the position and size of the excavated steps in addition to the conventional design ind

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Publication Date
Sun Oct 31 2021
Journal Name
Iraqi Geological Journal
Estimate Gas Initially in Place of Tight Gas Reservoirs Based on Developed Methodology of Dynamic Material Balance Technique
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With growing global demand for hydrocarbons and decreasing conventional reserves, the gas industry is shifting its focus in the direction of unconventional reservoirs. Tight gas reservoirs have typically been deemed uneconomical due to their low permeability which is understood to be below 0.1mD, requiring advanced drilling techniques and stimulation to enhance hydrocarbons. However, the first step in determining the economic viability of the reservoir is to see how much gas is initially in place. Numerical simulation has been regarded across the industry as the most accurate form of gas estimation, however, is extremely costly and time consuming. The aim of this study is to provide a framework for a simple analytical method to esti

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Publication Date
Wed May 29 2019
Journal Name
Iraqi Journal Of Physics
Impact strength behaviour of PMMA denture base through addition of different nanoparticles after immersion in some nutrition liquids
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Poly methyl methacrylate PMMA polymer could be considered the main material that used mostly in the recent years in denture base fabrication. It commonly known by it is poor strength properties such as low impact strength. The aim of the present research was to enhance the performance of PMMA denture base through the addition of two kind of nanoparticles (nano particles that selected from artificial and natural sources). Nano -particles from both Al2O3 and crushed peanut Peel were used for comparing purposes.Various weight fraction used in this study for both kinds of the additive (1%, 2% and 3%). Moreover, in this work a study and evaluation in impact strength (I.S.) value were done before and after immersion. The new prepared nanocompo

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Publication Date
Fri Jan 11 2019
Journal Name
Iraqi Journal Of Physics
Effect of thickness on the optical properties of ZnO thin films prepared by pulsed laser deposition technique (PLD)
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Zinc Oxide (ZnO) thin films of different thickness were prepared
on ultrasonically cleaned corning glass substrate, by pulsed laser
deposition technique (PLD) at room temperature. Since most
application of ZnO thin film are certainly related to its optical
properties, so the optical properties of ZnO thin film in the
wavelength range (300-1100) nm were studied, it was observed that
all ZnO films have high transmittance (˃ 80 %) in the wavelength
region (400-1100) nm and it increase as the film thickness increase,
using the optical transmittance to calculate optical energy gap (Eg
opt)
show that (Eg
opt) of a direct allowed transition and its value nearly
constant (~ 3.2 eV) for all film thickness (150

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Publication Date
Sun Mar 01 2020
Journal Name
Journal Of Engineering
The effect of titanium oxide microparticles on mechanical properties, absorption and solubility processes of a glass ionomer cement
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Glass Ionomer Cement (GIC) is one of the important dental temporary filing materials. The aim of this study is to evaluate the effect of adding 3, 5 and 7 wt. % of TiO2 microparticles to conventional GIC powder (Riva Self Cure) on mechanical properties and its effect on absorption and solubility processes. TiO2 particles additives improved compressive strength and biaxial flexural strength, where the compressive strength increased with increasing in the added ratio, while the highest value of the biaxial flexural strength was at 3 wt.%. The addition of TiO2 particles improved the surface Vickers microhardness values, with highest value at 5 wt. %. On other hand TiO2 addition im

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