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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
Wed Dec 14 2016
Journal Name
Journal Of Baghdad College Of Dentistry
The Effect of Silver-Zinc Zeolite Incorporation on Some Properties of Condensation Silicone Impression Material
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Background: elastomeric impression materials are indicated when a high degree of accuracy is required, due to their excellent properties like details reproduction, dimensional stability and tear strength but with main two disadvantages those are their hydrophilicity as well as the absence of antibacterial activity. This study aimed to evaluate the effect of incorporation of 0.5% wt Ag-Zn zeolite into condensation silicone through the following tests; setting time, dimensional stability, reproduction of details, wettability, and hardness . Materials and methods: one hundred specimens were constructed of condensation silicone, divided into two groups for the first 50 specimens one0.5% by wt Ag -Zn zeolite was added, keeping the other fifty sp

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Publication Date
Mon Jan 01 2024
Journal Name
2nd International Conference For Engineering Sciences And Information Technology (esit 2022): Esit2022 Conference Proceedings
Ideals of the full transformation semigroup of a free left G-act on n-generators
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Publication Date
Thu Dec 23 2021
Journal Name
Iraqi Journal Of Science
The Effect of Nano-Zinc Oxide and Nano-Titanium Dioxide on Inhabitation of Ochratoxin A
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    The experiment was conducted at the Agricultural Research Office in Baghdad during July 2020 to test the ability of nanomaterials (ZnO and TiO2) to inhibit  ochratoxin A, which is produced by a number of microbiology (fungi) including: Aspergillus ochraceus, A. niger, ,A. steynii, A. carbonarius,  Pencillume verrucosum and P. nordicum. The standard ochratoxin A, with known concentration, was treated with different concentrations of nanomaterials  (20, 40, 60, and 80 ppm) and two different particle sizes of nanoparticles approximately (15 nm) and (70 nm) for each (ZnO) and TiO2; with 16 transactions. Through an examination of the HPLC, the results showed that all tra

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Publication Date
Sat Jan 11 2025
Journal Name
Journal Of Baghdad College Of Dentistry
Effect of silica layer on bonding strength of thermoplastic nylon to cold cure acrylic resin
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Background: The combination of thermoplastic nylon resin materials and auto polymerizing resin is necessary in some situation for repair and adjustment. This study evaluated shear bond strength between thermoplastic nylon material (flexible) and auto polymerizing acrylic resin subjected to holes and silica coated layer. Materials and Method: Forty five (45) specimens were prepared from flexible acrylic bonded to auto-polymerizing acrylic resin and divided into three groups according to the surface treatments as follows: Group A: 15 specimens of flexible acrylic bonded with cold-cure acrylic by holes. Group B: 15 specimens of flexible acrylic bonded with cold-cure acrylic by silica coated layer. Group C: 15 specimens of flexible acrylic bon

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Publication Date
Mon Jun 22 2020
Journal Name
Baghdad Science Journal
Studying the Effect of Magnesium Oxide Nanoparticles Prepared on the Surface of Poly Methyl Methacrylate
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          In this paper, magnesium oxide nanoparticles (MgO NPS) have been prepared and characterized and its concentration effect has been studied on polymers surface (MgO NPS). The results showed that the degradation of poly methyl methacrylate increased when using such metal oxide. The results also showed that the metal oxide increased the degradation of poly methyl methacrylate. X-ray diffraction, scanning electron microscopy, atomic force microscopy were used to study the morphological characteristics and size of nano MgO particles analysis.  Films were prepared by mixing the different masses of MgO NPS (0.025, 0.05, 0.1, 0.2 and 0.4) % with a polymer solution ratio (W/V) 7 %. Photo-

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Publication Date
Thu Dec 13 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
Evaluation of Women's Knowledge and Personal Preference about The Place of Delivery in Baghdad City
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Objective: The study aim to evaluate of women's knowledge and personal preference about the place
of delivery in Baghdad City
Methodology:
descriptive study conducted in baghdad city on the mothers for the period from the 14th of December,
2015 to the 14th of April 2016. The sample of study included 500 mothers who were attending to
primary health care centers have been chosen sample of 26 primary health care center by a multi-stage
Simple random sampling Data was collected through a constructed questionnaire, validity Data was
analyzed by using of descriptive and inferential data analysis methods .
Results: The results indicated that approximately (29.4%) of the mothers in the age group (20-24) and
the average

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Publication Date
Sat Dec 30 2023
Journal Name
Iraqi Journal Of Chemical And Petroleum Engineering
CFD Simulation of Methanol Dehydration Step through an Adiabatic Fixed-bed Reactor of DME Synthesis
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   Today, dimethyl ether (DME) is changing to ordinarily worn as a superb aerosol propellant and refrigerant for its eco-friendly characteristics. Lately, with the development of novel chemical energy in the coal industries, it has become a fascinating field of research as an alternative green fuel for diesel machines due to the high cetane number. The DME synthesis processes include catalytic dehydrating methanol in an adiabatic fixed-bed reactor. In this study, to investigate the chemical conditions of the methanol dehydration reaction, CFD simulations of the adiabatic reactor have been assessed. The advantage of the work is a sensitivity analysis was run to find the effect of pressure, kinetics, and velocity on the reactor performan

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Publication Date
Fri Dec 30 2022
Journal Name
Iraqi Journal Of Chemical And Petroleum Engineering
Enhance the Properties of Lignosulfonate Mud by Adding Nanoparticles of Aluminum Oxide and Iron Oxide
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Oil well drilling fluid rheology, lubricity, swelling, and fluid loss control are all critical factors to take into account before beginning the hole's construction. Drilling fluids can be made smoother, more cost-effective, and more efficient by investigating and evaluating the effects of various nanoparticles including aluminum oxide (Al2O3) and iron oxide (Fe2O3) on their performance. A drilling fluid's performance can be assessed by comparing its baseline characteristics to those of nanoparticle (NPs) enhanced fluids. It was found that the drilling mud contained NPs in concentrations of 0,0.25, 0. 5, 0.75 and 1 g. According to the results, when drilling fluid was used without NPs, the coeff

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Publication Date
Sat Dec 01 2018
Journal Name
Al-khwarizmi Engineering Journal
The Effect of Walled Nano-Carbon on the Physical, Thermal and Mechanical Properties of Epoxy
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The physical, the thermal and the mechanical properties of Nano-composites, that consisted of Polyprime EP epoxy that reinforced by multi-walled carbon nanotubes (MWCNTs), have been studied. Various loading ratios, 0.1, 0.5, and 1 wt. %of MWCNT shave been infused into epoxy by a magnetic stirrer and then the hardener mixed with the mthat supplied with the epoxy. All sample shave been cutting using CNC machine. Tensile test, three-point bending, hardness tests, lee's disk, differential scanning calorimetry, water absorption and dielectric and electrical conductivity test were utilized on unfilled, MWCNT-filled epoxy to identify the loading effect on the properties of materials. Scanning electron microscopy (SEM) was used to determine the

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Publication Date
Thu Mar 30 2023
Journal Name
Iraqi Journal Of Science
Efficacy of Amphotericine B Ddrug Against Promastigote and Axenic Amastigote of Leishmania Dononvani in Vitro
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Leishmania are protozoan parasites belonging to the family Trypanosomatidae that cause high morbidity and mortality levels with a wide spectrum of clinical syndrome. This study aimed to investigate the effect of liposomal amphotericine B (AmBisome) drug on promastigote and axenic amastigote stages of Leishmania donovani isolate (MHOM/IQ/2005/MRU15)in comparison with pentostam SbV drug. Different concentrations of AmBisome and SbV drugs were investigated against Leishmania donovani promastigote and axenic amastigote. The ICR50R values of SbV and AmBisome drugs on promastigote were10.12 mg/ml and 2.21μg/ml, respectively, while they were 0.77μg/ml for axenic amastigote for both drugs. The present study concluded that axenic amastigote was

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