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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 Feb 08 2025
Journal Name
Al-rafidain University College For Sciences
Uncertainty types and theories of treatment
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In this research the researcher had the concept of uncertainty in terms of types and theories of treatment and measurement as it was taken up are three types of indeterminacy and volatility and inconsistency

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Publication Date
Sun Oct 03 2021
Journal Name
Al-manhaj
Fundamentals of Financial Statistics- (Third Edition)
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This Book is intended to be a textbook studied for undergraduate course in financial statistics/ department of Financial Sciences and Banking. This book is designed to be used in semester system. To achieve the goals of the book, it is divided into the following chapters. Chapter one introduces basic concepts. Chapter two devotes to frequency distribution and data representation. Chapter three discusses central tendency measures (all types of means, mode, and median). Chapter four deals with dispersion Measures (standard deviation, variance, and coefficient of variation). Chapter five concerned with correlation and regression analysis. While chapter six concerned with testing Hypotheses (One population mean test, Two "independent" populati

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Publication Date
Tue Oct 30 2018
Journal Name
Advances In Civil Engineering
Equivalent Modulus of Asphalt Concrete Layers
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A flexible pavement structure usually comprises more than one asphalt layer, with varying thicknesses and properties, in order to carry the traffic smoothly and safely. It is easy to characterize each asphalt layer with different tests to give a full description of that layer; however, the performance of the whole; asphalt structure needs to be properly understood. Typically, pavement analysis is carried out using multi-layer linear elastic assumptions, via equations and computer programs such as KENPAVE, BISAR, etc. These types of analysis give the response parameters including stress, strain, and deflection at any point under the wheel load. This paper aims to estimate the equivalent Resilient Modulus (MR) of the asphalt concrete

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Publication Date
Sun Nov 22 2020
Journal Name
Ibn Al-haitham Journal For Pure And Applied Sciences
Topological Structure of Generalized Rough Graphs
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The main purpose of this paper, is to introduce a topological space , which is induced by reflexive graph and tolerance graph , such that  may be infinite. Furthermore, we offered some properties of  such as connectedness, compactness, Lindelöf and separate properties. We also study the concept of approximation spaces and get the sufficient and necessary condition that topological space is approximation spaces.

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Publication Date
Fri Apr 20 2018
Journal Name
Iaes International Journal Of Artificial Intelligence (ij-ai)
Optimization of Digital Histopathology Image Quality
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One of the biomedical image problems is the appearance of the bubbles in the slide that could occur when air passes through the slide during the preparation process. These bubbles may complicate the process of analysing the histopathological images. The objective of this study is to remove the bubble noise from the histopathology images, and then predict the tissues that underlie it using the fuzzy controller in cases of remote pathological diagnosis. Fuzzy logic uses the linguistic definition to recognize the relationship between the input and the activity, rather than using difficult numerical equation. Mainly there are five parts, starting with accepting the image, passing through removing the bubbles, and ending with predict the tissues

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Publication Date
Fri May 16 2014
Journal Name
International Journal Of Computer Applications
A Comprehensive Study of Smart Grids
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In this paper, various aspects of smart grids are described. These aspects include the components of smart grids, the detailed functions of the smart energy meters within the smart grids and their effects on increasing the awareness, the advantages and disadvantages of smart grids, and the requirements of utilizing smart grids. To put some light on the difference between smart grids and traditional utility grids, some aspects of the traditional utility grids are covered in this paper as well.

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Publication Date
Tue Oct 30 2018
Journal Name
Civil Engineering Journal
Equivalent Modulus of Asphalt Concrete Layers
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A flexible pavement structure usually comprises more than one asphalt layer, with varying thicknesses and properties, in order to carry the traffic smoothly and safely. It is easy to characterize each asphalt layer with different tests to give a full description of that layer; however, the performance of the whole; asphalt structure needs to be properly understood. Typically, pavement analysis is carried out using multi-layer linear elastic assumptions, via equations and computer programs such as KENPAVE, BISAR, etc. These types of analysis give the response parameters including stress, strain, and deflection at any point under the wheel load. This paper aims to estimate the equivalent Resilient Modulus (MR) of the asphalt concrete

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Publication Date
Wed May 15 2013
Journal Name
Pakistan Journal Of Nutrition
Antioxidant Activity of Dietary Plants: Peppermint
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Publication Date
Tue Jul 01 1997
Journal Name
Polymer-plastics Technology And Engineering
Reverse Calculation of Pressure from Pseudopressure
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Publication Date
Thu Feb 24 2022
Journal Name
Journal Of Educational And Psychological Researches
Addiction of electronic games for children
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Childhood is characterized by ahigh privacy in the life of the child overall educational institutions in the world. Based on this specificity, modern education begins with a holistic vision of the child through all developmental aspects (moral, religious, emotional, social, linguistic, physical, health, and mental). This integration could be achieved through taking into consideration the needs and rights of children and developing curricula that consider these needs and capacities to provide opportunities for developing and supporting the developmental aspects of the child. The contemporary technological developments in the field of computer and the Internet have brought with it new forms, ideas, and problems for children in recent years

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