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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 Oct 04 2022
Journal Name
Lecture Notes In Mechanical Engineering
Effect of Stator Core Materials on the Performance Characteristics of a Free Piston Linear Generator Engine
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Publication Date
Fri Jun 17 2022
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Development of 5-FU Loaded poly lactic-co-glycolic acid Nanoparticles for Treatment of Lung Cancer
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Non-Small Cell Lung Cancer (NSCLC) accounts for about 84% of all lung cancer types diagnosed so far. Every year, regardless of gender, the NSCLC targets many communities worldwide. 5-Fluorouracil (5-FU) is a uracil-analog anticancer compound. This drug tends to annihilate multiple tumour cells. But 5-FU's most significant obstacle is that it gets very easily metabolized in the blood, which eventually leads to lower anticancer activity. Therfore a perfect drug delivery system is needed to overcome all the associated challenges.

In this experiment, an attempt was made to prepare 5-FU loaded poly lactic-co-glycolic acid  nanoparticles using solvent evaporation method and subsequently observed the effect of molecular weight of poly l

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Publication Date
Wed Aug 31 2022
Journal Name
Iraqi Journal Of Science
Hydrochemical Study of the Southern Sector of the Al-Massab Al-Aam Canal Water, Southern Iraq
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Al- Masab AL-Aam canal (or the Main Drain) is a vital strategic project in Iraq. It collects the drain water from the agricultural lands and drains to the Arabian Gulf via Shatt Al-Basra. Fifteen water samples were collected from different sites along the course of the Al- Masab Al-Aam canal southern sector extending from Nasiriyah Basra to evaluate the hydrochemical properties. The variation of the sediment’s texture along the southern sector was investigated. The results reflected that the sediment is characterized by the presence of sand, silt, and clay. It is noted that the amount of salt in the water increases during the summer when temperatures are rising, and consequently, the evaporation rate increases. Changes in the saturatio

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Publication Date
Tue Mar 26 2019
Journal Name
International Journal Of Mathematics And Mathematical Sciences
Stability and Bifurcation of a Prey-Predator-Scavenger Model in the Existence of Toxicant and Harvesting
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In this paper a prey-predator-scavenger food web model is proposed and studied. It is assumed that the model considered the effect of harvesting and all the species are infected by some toxicants released by some other species. The stability analysis of all possible equilibrium points is discussed. The persistence conditions of the system are established. The occurrence of local bifurcation around the equilibrium points is investigated. Numerical simulation is used and the obtained solution curves are drawn to illustrate the results of the model. Finally, the nonexistence of periodic dynamics is discussed analytically as well as numerically.

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Publication Date
Fri Jan 01 2021
Journal Name
Journal Of Stomatology
Association of self-reported symptoms of xerostomia with vaping and cigarette smoking: a cross-sectional study
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Publication Date
Thu Feb 01 2024
Journal Name
Journal Of Photochemistry And Photobiology A: Chemistry
Construction of co-zeolitic imidazolate framework/Bi2WO6 heterojunction photocatalyst with improved adsorption and photodegradation of ciprofloxacin
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Publication Date
Wed Aug 09 2023
Journal Name
Applied Sciences
Effect of Crude Oil on the Geotechnical Properties of Various Soils and the Developed Remediation Methods
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Crude oil still affects many countries because it is one of the essential fuel sources. It makes life more manageable in modern communities and cannot be overstated because it is easy to use and find. However, the pollution caused by its use in industries such as mining, transportation, and the oil and gas business, especially soil pollution, cannot be ignored. Soil pollution is an issue in most communities because it influences people and ecology. Accidental infusions and spills of ore oils are prevalent occurrences leading to the entire or fractional exchange of the soil pore fluid by oil-contaminated soils that have affected the geotechnical engineering properties. The liquid limitations for polluted soil grades silty loam and sa

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Publication Date
Wed Aug 09 2023
Journal Name
Applied Sciences
Effect of Crude Oil on the Geotechnical Properties of Various Soils and the Developed Remediation Methods
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Crude oil still affects many countries because it is one of the essential fuel sources. It makes life more manageable in modern communities and cannot be overstated because it is easy to use and find. However, the pollution caused by its use in industries such as mining, transportation, and the oil and gas business, especially soil pollution, cannot be ignored. Soil pollution is an issue in most communities because it influences people and ecology. Accidental infusions and spills of ore oils are prevalent occurrences leading to the entire or fractional exchange of the soil pore fluid by oil-contaminated soils that have affected the geotechnical engineering properties. The liquid limitations for polluted soil grades silty loam and sa

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Publication Date
Fri Jun 01 2012
Journal Name
Journal Of Engineering
Theoretical and Experimental Investigation of Transient Temperature Distribution in Friction Stir Welding of AA 7020-T53
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Finite element modeling of transient temperature distribution is used to understand physical phenomena occurring during the dwell (penetration) phase and moving of welding tool in friction stir welding (FSW) of 5mm plate made of 7020-T53 aluminum alloy at 1400rpm and 40mm/min.
Thermocouples are used in locations near to the pin and under shoulder surface to study the welding tool penetration in the workpiece in advance and retreate sides along welding line in three positions (penetrate (start welding) , mid, pullout (end welding)).
Numerical results of ANSYS 12.0 package are compared to experimental data including axial load measurements at different tool rotational speeds (710rpm.900rpm.1120rpm and 1400rpm) Based on the experiment

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Publication Date
Fri Jul 26 2013
Journal Name
Environmental Geochemistry And Health
Assessment of sulfurous springs in the west of Iraq for balneotherapy, drinking, irrigation and aquaculture purposes
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