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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
Thu Nov 14 2024
Journal Name
Journal Of Studies And Researches Of Sport Education
The effect of Rondo exercises in developing some basic skills for futsal players under the age of 18
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The Journal of Studies and Researches of Sport Education (JSRSE)

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Publication Date
Tue Dec 23 2025
Journal Name
Journal Of Physical Education
The Effect of Game – Like Exercises on the Development of Some Physical Abilities and Fundamental skills In Futsal
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Publication Date
Thu Nov 08 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
Assessment of nurses' knowledge towards signs of gross motor delay for children at Alhawija District in Kirkuk Governorate
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Background: the early identification of developmental disabilities allows intervention at the earliest possible point to
improve the developmental potential.
Objective: Identify the scope of knowledge of nurses toward signs of gross motor delay for children and its relation to
their demographic characteristics.
Methodology: A descriptive study design was conducted at (18) primary health care centers in first of the primary
health care sector of Alhawija District in Kirkuk Governorate. This study started from September 2010 to the end of
January 2011, in order to identify the level of nurses' knowledge toward signs of gross motor delay for children in
primary health care centers. Non probability (purposive) sample of

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Publication Date
Sat Oct 14 2017
Journal Name
European Chemical Bulletin
SYNTHESIS, SPECTROSCOPIC AND ANTIBACTERIAL STUDY OF ZINC, COPPER AND NICKEL COMPLEXES WITH NEW DERIVATIVE OF L-ASCORBIC ACID
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Publication Date
Fri Jul 01 2016
Journal Name
Bulletin Of The Iraq Natural History Museum (p-issn: 1017-8678 , E-issn: 2311-9799)
STUDY THE EFFECT OF DIFFERENT TYPES OF STRESS ON SOME BLOOD CONSTITUENTS AND PLASMA BIOCHAMICALS IN MALE RATS
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    The objective of this work was to determine and compare the physiological changes in some: blood components (packed cell volume and hemoglobin) and plasma biochemical parameters (glucose, total protein, albumin, cholesterol and triglycerides) under 3 day of different types of stress: water deprivation, starvation, overcrowding and handling stress. Twenty five male Wister rats weighted 100-120 gm, were divided randomly into five groups: control, water deprivation, starvation, overcrowding and handling stress. On the third day of stress the animals anesthetized for blood collection; the results of blood component revealed a significant increase in PCV and a significant decrease in Hb of water deprivation group and starva

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Publication Date
Tue Dec 01 2015
Journal Name
Journal Of Economics And Administrative Sciences
Qualification Of Human Resources To Apply Electronic Management A case study In The Ministry Of Science And Technology
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     This research aims to shed light on the reality of the process of rehabilitation of human resources for the implementation of electronic management practice in the ministry, and availability requirements of the application of electronic management and diagnosis of the most important stages and steps that can be followed in the process of transition towards electronic management to keep abreast of developments in the field of information technology, has been the application of this research in the Ministry of science and technology on a group of heads of departments and directors of the people in the departments of the Ministry through the use of case study method, which includes cohabitation field intervi

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Publication Date
Tue Dec 30 2008
Journal Name
Al-kindy College Medical Journal
Clinical Evaluation of the Levels of CEA,CA15-3 and AlphaFeto Protein in Malignant and Benign Pleural Effusion
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Background: Pleural effusion is a common clinical
problem.
Objective: The aim of the study was to evaluate the
diagnostic utility of Carcino embryonic antigen
(CEA), CA 15- 3, and alpha-feto protein ( AFP ) as
a tumor markers in serum and pleural effusion and
evaluate the value of combining them as a diagnostic
tools that are complementary to cytology in the
diagnosis of malignancies .
Methods: Forty patients (18 malignant and 22 benign
pleural effusion) were included in this study .The
serum and effusion levels of CEA, CA 15 – 3 and
AFP were measured using immunoradiometric assay
Results: from the 40 effusions studied 26 were
exudates and 14 were transudates. The level of
pleural effusions

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Publication Date
Thu Feb 01 2024
Journal Name
Microbial Pathogenesis
Evaluation of antibacterial, antifungal and antibiofilm activities of A. baumannii-derived tannase and gallic acid against uropathogenic microorganisms
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Publication Date
Mon Sep 20 2021
Journal Name
Journal Of Craniofacial Surgery
Presurgical Assessment of Anatomical Landmark Position Using Two Views of Cone Beam Computed Tomography: A Comparative Radiological Study
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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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