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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
Mon Jul 28 2025
Journal Name
Journal Of Baghdad College Of Dentistry
An evaluation of three fissure sealants microleakage with presence or absence of bonding agent through time intervals (In vitro study)
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Background: Pit and fissure sealant have been considered an outstanding adjunct to oral health care in the decrease of occlusal caries onset and low progression. The aims of this in vitro study were to evaluate the marginal microleakage of three different types of fissure sealants (SDI, Tg and tetric N-flow) by time interval, one day and 45 days, in the presence or absence of bonding agent among maxillary and mandibular teeth. Materials and methods: Seventy two sound human maxillary and mandibular first premolar teeth were collected which were free from obvious carious lesions. The teeth were randomly divided into two main equal groups, group (1) and group (2), each group consists of (36) teeth involving equal numbers of maxillary and mandi

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Publication Date
Tue Nov 03 2020
Journal Name
Modern Sport
Effect of using flat hierarchical method on some aspects of muscular strength and straight serve skill for nascent tennis players
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The researcher focused on the importance of the physical abilities of the tennis game, as this game is one of the games that are characterized by its specificity in performance as this game is characterized by continuous movement and dealing with different elements, so this game requires the development of muscle strength, which plays an important role in Performance skills in the game of tennis. There are several methods to develop strength, including flat hierarchical technique, which is one of the most common forms of training in the development of muscle strength.     As for the research problem, the researcher found a method that has an effect on the development of force. Therefore, the researcher tried to diversify a

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Publication Date
Mon Jul 28 2025
Journal Name
Journal Of Language Studies
Opening the Box of Suffering, Unleashing the Evils of the World’: Pandora and her Representation in Nineteenth-Century American Poetry
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Publication Date
Wed Aug 04 2021
Journal Name
Ibn Al-haitham International Conference For Pure And Applied Science (ihicps)
Effect of Annealing on structural and optical properties of Indium Selenide (InSe) Thin films prepared by vacuum THERMAL EVAPORATION TECHNIQUE
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Publication Date
Sat Oct 01 2011
Journal Name
Baghdad Science Journal
Studying the Effect of Aqueous Extract from Curcuma Longa on Some Parameters of Cytogenetic, Immunity and Fertility in Female Mice
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The research work was conducted to investigate the effect of oral administration of aqueous extract of turmeric at doses of (5, 10) mg/kg body weight for two weeks daily by determining the genotoxic effect (mitotic index), evaluation of immunological effect (IgG, IgM, IgA, C3, C4) and measuring fertility hormones (follicles stimulation hormone/FSH, lutenising hormone/LH) levels with histological examinations of female albino swiss mice ovaries in comparison with control (normal saline). A clear effect in increasing mitotic activity was reveled for both doses in comparison with control. Results also showed a significant increase in the value of all immunological parameters at both doses, in comparison with control. Also, obvious raise was se

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Publication Date
Mon Jan 15 2018
Journal Name
Iraqi Journal Of Laser
Effect of 410 nm Diode Laser Irradiation on the Growth of Burn Wounds-associated Bacteria, Pseudomonas Aeruginosa and Staphylococcus Aureus
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The effect of 410nm with 100 mW output power and one centimetre spot size (0.128 W/cm2 power density) Diode laser irradiation at different exposure times on the growth of Gram-negative Pseudomonas aeruginosa and Gram-positive Staphylococcus aureus was evaluated. Seventy swap samples were collected from burn and infected wounds of 35 patients admitted to the burn-wound unit in Al-Yarmouk Teaching Hospital in Baghdad during the period from December 2014 to February 2015. These bacteria were isolated and identified depending on their growth on selective media, cultural characteristics, Gram stain morphology and biochemical tests and finally were confirmed by Vitek 2 compact system test .Susceptibility of bacterial isolates to 15antibiotics

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Publication Date
Fri Oct 30 2020
Journal Name
Journal Of Economics And Administrative Sciences
The use of multi choice Goal Programming to reduce storage and shortage costs of blood units in health care centers
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We use of multi-choice Goal Programming (MCGP), which is a developed model of Goal Programming where it is used in circumstances of the multiplicity and difference of goals when choosing between decision alternatives in cases of allocating resources, as it is a model that seeks to find the closest and best solutions to the specific values ​​of the goals within the aspiration levels, as the first goal in the multi-choice goal programming model that is used to reduce the total cost of storage and shortage, while the other goal was to reduce the difference between the real demand that the hospitals need from the blood transfusion center and the units that already achieved. The case Iraqi Center

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Publication Date
Sat Mar 01 2008
Journal Name
Al-khwarizmi Engineering Journal
Study the Effect of Carbon Fiber Volume Fraction and their Orientations on the Thermal Conductivity of the Polymer Composite Materials.
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      The effect of fiber volume fraction of the carbon fiber on the thermal conductivity of the polymer composite material was studied. Different percentages of carbon fibers were used (5%, 10%, 15%, 20%, and 25%). Specimens were made in two groups for unsaturated polyester as a matrix and carbon fibers, first group has parallel arrangement of fibers and the second group has perpendicular arrangement of fibers on the thermal flow, Lee's disk method was used for testing the specimens. This study showed that the values of the of thermal conductivity of the specimens when the fibers arranged in parallel direction was higher than that when the fibers arranged in the perpendicular direction  

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Publication Date
Wed Jun 01 2022
Journal Name
Canadian Journal Of Chemistry
Hydrogenation of pyridine and hydrogenolysis of piperidine over <i>γ-</i>Mo<sub>2</sub>N catalyst: a DFT study
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Increasing demands on producing environmentally friendly products are becoming a driving force for designing highly active catalysts. Thus, surfaces that efficiently catalyse the nitrogen reduction reactions are greatly sought in moderating air-pollutant emissions. This contribution aims to computationally investigate the hydrodenitrogenation (HDN) networks of pyridine over the γ-Mo2N(111) surface using a density functional theory (DFT) approach. Various adsorption configurations have been considered for the molecularly adsorbed pyridine. Findings indicate that pyridine can be adsorbed via side-on and end-on modes in six geometries in which one adsorption site is revealed to have the lowest adsorption energy (

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Publication Date
Fri Feb 08 2019
Journal Name
Iraqi Journal Of Laser
Study the Effect of Annealing on Optical and Electrical Properties of ZnS Thin Film Prepared by CO2 Laser Deposition Technique
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In this work, ZnS thin films have been deposited by developed laser deposition technique on glass substrates at room temperature. After deposition process, the films were annealed at different temperatures (200ºC , 300 ºC and 400ºC ) using thermal furnace.The developed technique was used to obtain homogeneous thin films of ZnS depending on vaporization of this semiconductor material by continuous CO2 laser with a simple fan to ensure obtaining homogeneous films. ZnS thin films were annealed at temperature 200ºC, 300 ºC and 400ºC for (20) minute in vacuum environment. Optical properties of ZnS thin film such as absorbance, transmittance, reflectance, optical band gap, refractive index extinction coefficient and absorption coefficien

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