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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 09 2018
Journal Name
Bulletin Of The Iraq Natural History Museum (p-issn: 1017-8678 , E-issn: 2311-9799)
DESCRIPTIVE OSTEOLOGY STUDY OF ALBURNUS AMIRKABIRI (CYPRINIFORMES: CYPRINIDAE), A NEWLY DESCRIBED SPECIES FROM NAMAK LAKE BASIN, CENTRAL OF IRAN
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    This study was conducted to provide a detailed description of the osteology features of Alburnus amirkabiri from the Qareh Chai river, markazi province, Iran. For this purpose, eight specimens of A. amirkabiri were collected from the Qareh Chai River by electrofishing and fixed in 4% buffered formalin after anesthesia. The specimens were cleared and stained for osteological examination and its detailed osteological characterizations and differences with available osteological data of other members of the genus Alburnus were provided.

 

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Publication Date
Tue Oct 02 2018
Journal Name
Iraqi Journal Of Physics
Study the effect of thermal annealing on some physical properties of thin Cu2SiO3 films prepared by pulsed laser deposition
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The Cu2SiO3 composite has been prepared from the binary compounds (Cu2O, and SiO2) with high purity by solid state reaction. The Cu2SiO3 thin films were deposited at room temperature on glass and Si substrates with thickness 400 nm by pulsed laser deposition method. X-ray analysis showed that the powder of Cu2SiO3 has a polycrystalline structure with monoclinic phase and preferred orientation along (111) direction at 2θ around 38.670o which related to CuO phase. While as deposited and annealed Cu2SiO3 films have amorphous structure. The morphological study revealed that the grains have granular and elliptical shape, with average diameter of 163.63 nm. The electrical properties which represent Hall effect were investigated. Hall coeffici

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Publication Date
Sun Jun 01 2014
Journal Name
Baghdad Science Journal
The Effect of Annealing on The Structural and Optical Properties of Copper Oxide Thin Films Prepared by SILAR Method
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Copper oxide thin films were deposited on glass substrate using Successive Ionic Layer Adsorption and Reaction (SILAR) method at room temperature. The thickness of the thin films was around 0.43?m.Copper oxide thin films were annealed in air at (200, 300 and 400°C for 45min.The film structure properties were characterized by x-ray diffraction (XRD). XRD patterns indicated the presence of polycrystalline CuO. The average grain size is calculated from the X-rays pattern, it is found that the grain size increased with increasing annealing temperature. Optical transmitter microscope (OTM) and atomic force microscope (AFM) was also used. Direct band gap values of 2.2 eV for an annealed sample and (2, 1.5, 1.4) eV at 200, 300,400oC respect

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Publication Date
Sat Aug 25 2018
Journal Name
Water
Minimizing the Principle Stresses of Powerhoused Rock-Fill Dams Using Control Turbine Running Units: Application of Finite Element Method
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This study focuses on improving the safety of embankment dams by considering the effects of vibration due to powerhouse operation on the dam body. The study contains two main parts. In the first part, ANSYS-CFX is used to create the three-dimensional (3D) Finite Volume (FV) model of one vertical Francis turbine unit. The 3D model is run by considering various reservoir conditions and the dimensions of units. The Re-Normalization Group (RNG) k-ε turbulence model is employed, and the physical properties of water and the flow characteristics are defined in the turbine model. In the second phases, a 3D finite element (FE) numerical model for a rock-fill dam is created by using ANSYS®, considering the dam connection with its powerhouse

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Publication Date
Wed Dec 30 2015
Journal Name
College Of Islamic Sciences
What is the contract of cultivating the land of the waqf in Islamic jurisprudence and the Algerian Awqaf law
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What is the contract of cultivating the land of the waqf in Islamic jurisprudence and the Algerian Awqaf law

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Publication Date
Mon Jan 29 2024
Journal Name
2024 3rd International Conference On Digital Transformation And Applications (icdxa)
The Mediating Role of Cobit 2019 in Managing the Relationship Between Qualitative Characteristics of Accounting Information and Information Asymmetry
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The Mediating Role of Cobit 2019 in Managing the Relationship Between Qualitative Characteristics of Accounting Information and Information Asymmetry

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Publication Date
Sun Jun 30 2019
Journal Name
Journal Of The College Of Education For Women
The aesthetic formation of metaphor Textual reading in the office of Majd al-Din al-Nashabi (D. 656 A.H)
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وظَّفَ الشاعرُ مجد الدين النُّشَّابي الصورة الاستعارية التي شكلت سمةً جمالية بارزة من سماتِ التشكيل الشعري عنده, وأحد المكونات الأساسية في بنية قصائده الشعرية وهي جوهر الإبداع ومحط التذوق عند المتلقي, إذ يشكل الشاعر صوره الاستعارية المتنوعة متولدة من خياله وعواطفه ومتوافقة مع الموضوع لتصبح الصورة  الاستعارية ركنًّا من أركان التشكيل الفني الشعري عند الشاعر .

والتصوير الاستعاري له القدرة بالتشكيل ا

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Publication Date
Sun Mar 01 2015
Journal Name
Baghdad Science Journal
A study of adsorption isotherms for the removal of herbicide Atlantis WG from aqueous solutions by using Bentonite clay
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The subject of this research involves studying adsorption to removal herbicide Atlantis WG from aqueous solutions by bentonite clay. The equilibrium concentration have been determined spectra photometry by using UV-Vis spectrophotometer. The experimental equilibrium sorption data were analyzed by two widely, Langmuir and Freundlish isotherm models. The Langmuir model gave a better fit than Freundlich model The adsorption amount of (Atlantis WG) increased when the temperature and pH decreased. The thermodynamic parameters like ?G, ?H, and ?S have been calculated from the effect of temperature on adsorption process, is exothermic. The kinetic of adsorption process was studied depending on Lagergren ,Morris ? Weber and Rauschenberg equati

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Publication Date
Tue Nov 11 2025
Journal Name
Journal Of Baghdad College Of Dentistry
Effect of post-pressing times on adaptation of maxillary heat cured acrylic denture base at posterior palatal seal area
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Background: The purpose of this study was to verify the influence of post- pressing time of acrylic resin (immediate, 6, 12 and 24 hour) on the dimensional accuracy of denture base whish is a critical factor in the retention and stability of the complete denture that may occur during polymerization shrinkage. Materials and Methods: Forty maxillary stone casts were poured in plastic mold (Columbia Dentoform corp. NEW YORK, type III dental stone (Geastone, Zeus Sri Loc.Tamburine Roccastrada, GR, Italy). The stone casts were randomly assigned into 4 groups of 10 specimens each according to the post-pressing times into (immediate, 6, 12 and 24 h.). Heat cure acrylic resin denture base was constructed according to the previously mentioned pressi

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Publication Date
Fri Jan 01 2016
Journal Name
Iosr Journal Of Applied Physics (iosr-jap)
Influence of concentration on the structural, optical and electrical properties of TiO 2 : CuO thin film Fabricate by PLD
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In this work, Titanium oxide thin films doped with different concentration of CuO (0,5,10, 15,20) %wt were prepared by pulse laser deposition(PLD) technique on glass substrates at room temperature with constant deposition parameter such as : pulse (Nd:YAG), laser with λ=1064 nm, constant energy 800 mJ , repetition rate 6 Hz and No. of pulse (500). The structure , optical and electrical properties were studied . The results of X-ray diffraction( XRD) confirmed that the film grown by this technique have good crystalline tetragonal mixed anatase and rutile phase structure, The preferred orientation was along (110) direction for Rutile phase. The optical properties of the films were studied by UV-VIS spectrum in the range of (360-1100)

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