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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 Jun 17 2019
Journal Name
Ibn Al-haitham Journal For Pure And Applied Sciences
Synthesis and Structural Studies of Some Transition Metal Complexes of 5- phenyl-1,3,4 — Oxadiazole-2- thioethyl Carbanate
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 New complexes of cobalt (II). palladium (II). and platiniurn(H) with 5-phenyl- 1.3,4-oxadiazole-2- thioethylcarbanate (OXE) have been prepared and characterized by elemental analysis, 1R.L-V-Vis spectra. magnetic susceptipibility. and conductivity- measurements. Probable structures of the prepared complexes have been reported.

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Publication Date
Thu Dec 31 2020
Journal Name
Journal Of Accounting And Financial Studies ( Jafs )
The effect of Marketing costs on the profitability of insurance companies: applied research in the national insurance company
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The research aims to study the marketing costs in its various items, which are important costs as it specializes in tunnels on the marketing side through which the company's services are introduced to ensure that these services reach as many segments of society as possible, which serves the company's objectives and expand its business and increase its market share. As well as the definition of profitability and its relation to marketing costs in the portfolios of the national insurance company. The research hypothesis was formulated to study and analyze the relationship and impact between the marketing costs and profitability of the research sample company. The research sample was determined by the National General Insurance Comp

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Publication Date
Wed Nov 01 2017
Journal Name
Journal Of Economics And Administrative Sciences
The impact of not applying justice career empowerment in Jordanian government institutions on the performance of working women
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The study aimed to identify the reality of the application of the organizational equity empowerment at the Jordanian government institutions from the viewpoint of women employees in terms of each of the (delegation equity, training equity, appraisal equity, join in committees equity, participation in decision-making equity), and the impact of non-application of equity empowerment on performance.

Population of the study amounted (986) women employee, while the researcher distributed (340) questionnaire through a randomly sample method.

The study used the questionnaire as a tool to collect the data. And to ensure the reliability of the questionnaire has been calculated Cronbach's co

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Publication Date
Thu Sep 12 2019
Journal Name
Al-kindy College Medical Journal
The outcome of newborn admitted in neonatal care unit, center teaching hospital of pediatric , Baghdad Al-krakh, 2015
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Background: Neonatal period is a very vulnerable period of life due to many problems, In spite of advances in perinatal and neonatal care still, the mortality rate of neonate high especially in developing country The World Health Organization estimates that globally four million neonatal deaths per year, Developing countries account for around 99% of the neonatal mortality in the world, In Iraq. Neonatal mortality rate about 19 per 1000 live births which represent 56% of child death below 5 years age in 2012. The hospital in the study represents the larger pediatric hospital in Iraq. It contains 400 children's beds and 24 neonatal incubators.

Aims of the study: are to determine the institutional

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Publication Date
Fri Sep 01 2023
Journal Name
Iraqi Journal Of Physics
Influence of DC Magnetron Sputtering Power on Structural, Topography, and Gas Sensor Properties of Nb2O5/Si Thin Films.
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This study focuses on synthesizing Niobium pentoxide (Nb2O5) thin films on silicon wafers and quartz substrates using DC reactive magnetron sputtering for NO2 gas sensors. The films undergo annealing in ambient air at 800 °C for 1 hr. Various characterization techniques, including X-ray diffraction (XRD), atomic force microscopy (AFM), energy-dispersive X-ray spectroscopy (EDS), Hall effect measurements, and sensitivity measurements, are employed to evaluate the structural, morphological, electrical, and sensing properties of the Nb2O5 thin films. XRD analysis confirms the polycrystalline nature and hexagonal crystal structure of Nb2O5. The optical band gap values of the Nb2O5 thin films demonstrate a decrease from 4.74 to 3.73 eV

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Publication Date
Sat Dec 30 2023
Journal Name
Journal Of Economics And Administrative Sciences
The Effect of Green Training and Development on Sustainable Performance: An Analytical Research in the Ministry of Environment
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The current study aims to test the impact of green training and development on sustainable performance and explore its effects within and outside the Iraqi Ministry of Environment. The main research problem revolves around the question of the extent of implementing green training and development and sustainable performance in the ministry (What is the nature of the relationship between green training and development and sustainable performance in the ministry?). To clarify the relationship between the research variables, two main hypotheses were formulated along with sub-hypotheses. The study also aims to assess the level of the ministry's interest in the research variables and provide key recommendations to enhance sustainable performan

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Publication Date
Sun Mar 01 2020
Journal Name
International Journal Of Modern Physics E
Investigation of halo structure of neutron rich 14B, 15C, 19C and 22N nuclei in the two body model
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The two body model of (Core+n) within the radial wave functions of the cosh potential has been used to investigate the ground state features such as the proton, neutron and matter densities, the root mean square (RMS) nuclear proton, neutron, charge and mass radii of unstable neutron-rich 14B, 15C, 19C and 22N nuclei. The calculated results show that the two body model with the radial wave functions of the cosh potential succeeds in reproducing neutron halo in these nuclei.

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Publication Date
Tue Dec 31 2019
Journal Name
Journal Of Economics And Administrative Sciences
Determining the sources of growth of the cement industry in Iraq (analytical study for the period 1990-2014)
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The objective of this study is to determine the sources of growth of the cement industry in Iraq for the period 1990-2014 and to indicate the nature of the technological progress used in it. To achieve this objective we have built an econometric model, by adapting the production function constant elasticity for substitution, using multiple regression, and enforcement, SPSS program, and using the ordinary least squares method (OLS). The results showed that quantitative factors (labour and capital) are the main sources of growth the cement industry in Iraq, and the qualitative factors (technological progress) did not contribute effectively to achieve this growth. And that the production techniques adopted in the cement industry in

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Publication Date
Sun Feb 24 2019
Journal Name
Iraqi Journal Of Physics
Study the effect of gamma radiation on the some properties of glass and glass-ceramic immobilize nuclear waste
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Vitrifications process one of the important methods to immobilize nuclear waste.  In this research nuclear waste (Strontium Oxides) with molecular weight (5%) was immobilized by vitrification methods in two types of borosilicate glass (c-type) which are glass and glass-ceramics. To investigate the physical, chemical and mechanical properties of glass and glass-ceramic after immobilize nuclear waste these samples irradiated by gamma ray radiation. Co-60 was used as gamma a irradiation with dose rate 0.38 kGy/hr for different period of time. It’s found that gamma radiation affected the glass and glass-ceramic properties. From phase analysis by the x-ray diffraction for glass-ceramic samples proved that at doses 343kGy change the cry

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Publication Date
Thu Mar 31 2022
Journal Name
Iraqi Geological Journal
Development of New Models to Determine the Rheological Parameters of Water-Based Drilling Fluid using Artificial Neural Networks
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It is well known that drilling fluid is a key parameter for optimizing drilling operations, cleaning the hole, and managing the rig hydraulics and margins of surge and swab pressures. Although the experimental works represent valid and reliable results, they are expensive and time consuming. In contrast, continuous and regular determination of the rheological fluid properties can perform its essential functions during good construction. The aim of this study is to develop empirical models to estimate the drilling mud rheological properties of water-based fluids with less need for lab measurements. This study provides two predictive techniques, multiple regression analysis and artificial neural networks, to determine the rheological

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