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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
Sat Apr 01 2023
Journal Name
Iop Conference Series: Earth And Environmental Science
Response of Growth and Yield of True Potato Seed Plants to Foliar Application with Organic Nutrients
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Abstract<p>The experiment was carried out in the spring season of 2017 in the open fields of the College of Agricultural Engineering Sciences/University of Baghdad/Al-Jadriya camps in order to improve the growth and yield of potato plants resulting from the cultivation of true potato seeds of the hybrid BSS-295 by spraying with two organic nutrients. The experiment included two factors: First one was spraying with Megafol nutrient at concentrations 0, 1, 2 and 4 ml l<sup>-1</sup> and the second was spraying with Algazone nutrient at concentrations 0, 1.5 and 3 ml l<sup>-1</sup>, the experiment was applied according to the complete randomized block design with three replicatio</p> ... Show More
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Publication Date
Sun Sep 01 2013
Journal Name
Baghdad Science Journal
Synthesis, Structural Studies of Some New Transition Metals Complexes of Semicarbazide hydro chloride Schiff Base Derivatives
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A new series of transition metal complexes of Cu(II), Ni(II), Co(II) and Fe(III) have been synthesized from the Schiff base (L1) and (L2) derived from Semicarbazide hydro chloride and 4-chlorobenzaldehyde or 4-bromobenzaldehyde. The structural features have been arrived from their elemental analyses, magnetic susceptibility, molar conductivity, IR, UV-Vis. and 1H NMR spectral studies. The data show that the complexes have composition of [M(L)2](NO3)2 and [Fe(L)2 (NO3)2](NO3) where the M=Co(II),Ni(II) and Cu(II) ;L=L1and L2 type. The magnetic susceptibility and UV-Vis spectral data of the complexes suggest a square planer geometry for Co(II) and Cu(II) but Fe(III) octahedral geometry and Ni(II) tetrahedral geometry around the central metal i

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Publication Date
Tue Sep 01 2009
Journal Name
Al-khwarizmi Engineering Journal
Time Prediction of Dynamic Behavior of Glass Fiber Reinforced Polyester Composites Subjected to Fluctuating Varied Temperatures
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The reduction of vibration properties for composite material (woven roving E-glass fiber plies in thermosetting polyester matrix) is investigated at the prediction time under varied combined temperatures (60  to -15) using three types of boundary conditions like (CFCF, CCCF, and CFCC). The vibration properties are the amplitude, natural frequency, dynamic elastic moduli (young modulus in x, y directions and shear modulus in 1, 2 plane) and damping factor. The natural frequency of a system is a function of its elastic properties, dimensions, and mass. The woven roving glass fiber has been especially engineered for polymer reinforcement; but the unsaturated thermosetting polyester is widely used, offering a good balance of vibration p

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Publication Date
Thu Feb 06 2025
Journal Name
Journal Of Baghdad College Of Dentistry
X-ray diffraction and biocompatibility of glass ionomer cement reinforced by different ratios of synthetic hydroxyapatite
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Background: This study was done to assist X-ray diffraction and biocompatability of glass ionomer cement reinforced by different ratios of Hydroxyapatite. Materials and Methods: The powder of glass ionomer cement reinforced by different ratios of Hydroxyapatite were used to get X-ray diffraction pattern by X-ray diffraction machine, While for biocompatibility test, A polyethylene tubes containing glass ionomer cement reinforced by different ratios of Hydroxyapatite were implanted on the dorsal submucosal site of Rabbit's tissues and histological slide were prepared for histopathological study. Results: X-ray diffraction test showed that all elements of glass ionomer cement reinforced by different ratios of Hydroxyapatite were react with eac

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Publication Date
Wed Nov 01 2023
Journal Name
Journal Of Modern Project Management
THE IMPACT OF STRATEGIC INTELLIGENCE ON ORGANIZATIONAL PERFORMANCE: A TEXTILE SECTOR PERSPECTIVE OF A DEVELOPING ECONOMY
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In today’s competitive environment, organizational efficiency and sustained growth are crucial for survival. The performance of an organization is intricately connected to strategic planning, prompting firms to gather and leverage competitive information for a competitive advantage. Senior managers, recognizing this, initiate actions accordingly. This study aims to investigate the relationship between foresight, vision, strategic partnerships, motivation, system thinking, and organizational performance. Data, gathered through a self-administered questionnaire from various textile units, were analysed using structural equation modelling (SEM). The findings indicate that sub-constructs of strategic intelligence positively impact organizatio

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Publication Date
Thu Nov 17 2022
Journal Name
Journal Of Interdisciplinary Mathematics
Results of Differential Sandwich Theorem of the Univalent Functions Associated with Generalized Salageon Integro-Differential Operator
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Publication Date
Thu Oct 20 2022
Journal Name
2022 International Symposium On Multidisciplinary Studies And Innovative Technologies (ismsit)
Effect of Gamma Radiation and Borax on Mechanical Properties of Polyvinyl Alcohol and Chitosan Blend Film
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The creation and characterisation of biodegradable blend films based on chitosan and polyvinyl alcohol for application in a range of packaging is described. The compatibility between the chitosan and PVA polymers was good. Composite films had a compact and homogeneous structure, according to the morphology analysis. The mechanical test result of PVA/CH at concentrations 5% showed, that The higher values of TS recorded in sample (p1, with 40 MPa) while the lower values appeared in sample (p9, with 22.09 MPa), the TS decreased gradually as the amount of PVA increased in blend film. While the blend film of pure Chitosan exhibits a poor mechanical strength which makes it a poor candidate for packaging but Blending CH with PVA together improved

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Publication Date
Mon May 27 2019
Journal Name
Al-khwarizmi Engineering Journal
Investigation the Optimization of Machining Parameters to Surface Roughness in Free Form Surface of Composite Material
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The aim of this research is to investigation the optimization of the machining parameters (spindle speed, feed rate, depth of cut, diameter of cutter and number of flutes of cutter) of surface roughness for free-form surface of composite material (Aluminum 6061 reinforced boron carbide) by using HSS uncoated flat end mill cutters which are rare use of the free-form surface. Side milling (profile) is the method used in this study by CNC vertical milling machine. The purpose of using ANFIS to obtain the better prediction of surface roughness values and decreased of the error prediction value and get optimum machining parameters by using Taguchi method for the best surface roughness at spindle speed 4500 r.p.m, 920mm/rev feed rate, 0.6mm de

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Publication Date
Thu Feb 06 2025
Journal Name
Al–bahith Al–a'alami
Students and Watching Specialized Satellite Channels (Applied Study on a Sample of University of Baghdad’s Students
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This research is one of the public research aimed at identifying the communication habits and the implications of the content on the communication process, especially as the audience of specialized media is often characterized by effectiveness, depth and active in tracking the media message and interaction with its content. It means such audience is a positive, very active, dynamic, and very alert audience driven by his interests and psychological needs to watch specific programs meet his desires.

This satisfaction can only be achieved through the use of specialized media capable of producing programs that will communicate and interact between the ideas you present and this audience.

The phenomenon of specialized satellit

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Publication Date
Sat Mar 01 2014
Journal Name
Journal Of Accounting And Financial Studies ( Jafs )
Strategic Performance Evaluation Using Benchmarking Technique: Applied Research In The Sample Of Offices Of Inspectors General
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In light of the rapid changes in the business environment and the entry of administrative leaders in the challenges of the atheist and twenty- increasing competition between sectors and the desire to acquire the skills, the traditional methods are no longer viable, which requires doing evaluates performance according to a more holistic, rather than limiting the performance evaluation on the financial hub that has not longer enough alone, as well as benchmarking method that has proven successful in developed countries as a way to develop and improve products and services.

I've touched your search to the development of indicators evaluating the performance and preparation of a mechanism for making comparisons of reference between o

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