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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 Dec 16 2008
Journal Name
Journal Of Planner And Development
The relationship between the uses of land and the network of movement and roads (study area, Najaf city)
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The interaction in the city is reflected in the movement of people motivated by their activities and their economic and social goals, which include many variables subject to the planning process in the interpretation of this movement and the mapping of trends of transport intensity through the concept of transport function and its functional relationships with the uses of the earth in the sustainability and effectiveness of the movement of transport and Economic activity and population movement. Transport planners are concerned with the requirements of land use, which are linked to and included in the transport planning process as a factor for the future transport needs. There is a strong relationship between the transport system

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Publication Date
Thu Jul 20 2023
Journal Name
Ibn Al-haitham Journal For Pure And Applied Sciences
The Effect of substrate Nature on the properties of Tin Sulfide Nanostructured films Prepared by chemical bath deposition
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The substrate's nature plays an important role in the characteristics of semiconductor films because of the thermal and lattice mismatching between the film and the substrate. In this study, tin sulfide (SnS) nanostructured thin films were grown on different substrates (polyester, glass, and silicon) using a simple and low-cost chemical bath deposition technique. The structural, morphological, and optical properties of the grown thin films were investigated using X-ray diffraction (XRD), field emission scanning electron microscopy (FESEM), and ultraviolet-visible-near infrared (UV-Vis-NIR) spectroscopy. The XRD and FESEM results of the prepared films revealed that each film is polycrystalline and exhibits both orthorhombic and cubic stru

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Publication Date
Thu Jun 25 2020
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Evaluation of the Possible Immuno-Protective Effect of Nigella Sativa Seed Oil on Cyclophosphamide- Induced Myelosuppression in Mice
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Myelosuppression is one of the serious adverse effects of cancer chemotherapy that lead to life threatening febrile neutropenia and considered a limiting factor for successful therapy. Cyclophosphamide a widely used anticancer drugs, induces severe bone marrow suppression by damaging hematopoietic stem cells. As cancer incidence expands globally, the demand for an effective myeloprotective therapy during cancer treatment is also increasing.Nigella sativa seed oil, a well-known plant extract that widely used for various health conditions. This study aims to evaluate the myeloprotective activity of Nigella sativa seed oil in cyclophosphamide-induced myelosuppression mice model. Myelosuppression induced by single intraperitoneal injection o

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Publication Date
Mon Feb 04 2019
Journal Name
Iraqi Journal Of Physics
Effect of pyridine and pyridine with substituent on photoluminescence of nanoparticles CdS prepared by liquid –liquid interface reaction
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Liquid – liquid interface reaction is the method for
preparation nanoparticles (NP'S) which depend on the super
saturation of ions that provide by using the system that consist from
toluene and water, the first one is above the second to obtain
nanoparticles (NP's) CdS at the interface separated between these
two immiscible liquid. The structure properties were characterized by
XRD-diffraction and transmission electron microscopy.
The crystalline size estimate from X-ray diffraction pattern
using Scherer equation to be about 7nm,and by TEM analysis give us
that ananosize is about 5 nm which give a strong comparable with
Bohr radius. Photoluminescence analysis give two emission peak,
the first one around

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Publication Date
Mon Dec 11 2017
Journal Name
Al-khwarizmi Engineering Journal
The Effects of Long-Term Operation and High Temperature on Material Properties of Austenitic Stainless Steel Type 321H
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Changes in mechanical properties of material as a result of service in different conditions can be provided by mechanical testing to assist the estimation of current internal situation of these materials, or the degree of deterioration may exist in furnaces serviced at high temperature and exceed their design life. Because of the rarity works on austenitic stainless steel material type AISI 321H, in this work, ultimate tensile strength, yield strength, elongation, hardness, and absorbed energy by impact are evaluated based on experimental data obtained from mechanical testing. Samples of tubes are extracted from furnace belong to hydrotreaterunit, also samples from un-used tube material are used to make comparisons between these properti

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Publication Date
Tue Jun 15 2021
Journal Name
Al-academy
Visual discourse of statues of symbolic figures Christ as a model (An analytical study): مصطفى ممتاز نوري الياور
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The topic of this research deals with an analytical study of the nature of the visual sent by the sculptural monument of the person of Christ around the world, the nature of this monument, the manner of its embodiment, the mechanism of reception for each of the societies that this monument addressed to them, how it was reflected on them, how it was reflected on them, and whether these works are related to their culture or not, I discussed this study All this, and the researcher has established theoretical research axes for the research according to the desired goal of this study, which is the definition of the mechanism of visual discourse of statues of Christ around the world and were as follows: (The first axis: the discourse and visua

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Publication Date
Tue Jan 08 2019
Journal Name
Iraqi Journal Of Physics
Effect of annealing and chemical treatment on structural and optical properties of CuPcTs/PEDOT:PSS (BHJ Blend) thin films
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In this work, The effect of annealing treatment at different temperatures (373, 423 and 473) K and chemical treatment with talwen at different immersion time (40, 60 and 80) min on structural and optical properties of the bulk heterojunction (BHJ) blend copper phthalocyanine tetrasulfonic acid tetrasodium salt/poly dioxyethylenethienylene doped with polystyrenesulphonic acid (CuPcTs/PEDOT:PSS) thin films were investigated. The films were fabricated using spin coating technique. X-ray diffraction (XRD) measurements displayed only one peak at 2θ =4.5o corresponding to (001) direction which has dhkl larger than for standard CuPcTs. The dhkl increase then decrease with increasing annealing temperature and
the time of chemical treatment w

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Publication Date
Tue Dec 15 2020
Journal Name
Al-academy
Spatial Formation of the Sculptural Body in the Space of the Theatrical Show: عقيل ماجد حامد محمد الملاحسن
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The current research presents a study of the sculptural body in the space of the theatrical show through reviewing most of the ideas, propositions and workings presented by philosophers and directors within the space of the show, that there were various experiences of employing those spatial formations through the mediator (the space) based on sculpturing the body in achieving those formations, which contributed in building a symbolic picture of various structural connotations. That was formulated through the research chapters, which include the first chapter (the methodological framework) which consists of two sections. The first section (the duality of space formation and imaginations). The second section (sculptural body sequences in

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Publication Date
Mon Oct 01 2018
Journal Name
Iraqi Journal Of Physics
Simulations of the initiation and propagation of streamers in electrical discharges inside water at 3 mm length gap
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This work is devoted to the modeling of streamer discharge, propagation in liquid dielectrics (water) gap using the bubble theory. This of the electrical discharge (streamer) propagating within a dielectric liquid subjected to a divergent electric field, using finite element method (in two dimensions). Solution of Laplace's equation governs the voltage and electric field distributions within the configuration, the electrode configuration a point (pin) - plane configuration, the plasma channels were followed, step to step. The results show that, the electrical discharge (streamer) indicates the breakdown voltage required for a 3mm atmospheric pressure dielectric liquid gap as 13 kV. Also, the electric potential and field distributions sho

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Publication Date
Sun Jan 01 2017
Journal Name
Al-qadisiyah Journal Of Pure Science
Synthesis and Spectroscopic Studies of Some Metal Complexes of [3-(3-(2-chloroacetyl)thioureido)pyrazine-2-carboxylic acid]
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A new ligand [3(3(2chloroacetyl) thioureido)pyrazine-2-carboxyliIcacid](CPC)was synthesized by reaction of rized by imicro elmental analysis C.H.N.S.,FT-IR,UV-Vis and 1H-13CNMR spectra, some transition metals complex ofIthis ligand were Prepared and characterized byiFT-IR,UV-Vis spectra conductivity measurements magnetic susceptibility and atomic absorption. From the obtained results the molecular formula of all prepared complexes were[M(CPC)2](M+2i=Mn. Co, Ni, Cu, Zn, Cd and Hg),the proposedi geometrical structure for all complexes were as tetrahedral geometry except copper complex has square planer geometry.