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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 Jan 05 2019
Journal Name
The Egyptian Journal Of Neurology, Psychiatry And Neurosurgery
Use of low-power He-Ne laser therapy to accelerate regeneration processes of injured sciatic nerve in rabbit
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Publication Date
Tue Jul 15 2025
Journal Name
Sciences Journal Of Physical Education
The Contribution of Certain Physical Abilities to the Selection of Athletes for the 110m Hurdle Race (Youth Class)
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Publication Date
Fri Jun 30 2023
Journal Name
Pakistan Journal Of Ophthalmology
Effect of Intravitreal Aflibercept on Wet Age-Related Macular Degeneration and Evaluation of Risk Factors on Patient’s Response
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Purpose:  To evaluate the effect of intravitreal Aflibercept injection on wet AMD both functionally and anatomically after loading doses. The secondary aim is to evaluate the effect of risk factors including (gender, age, smoking, hypertension, and diabetes meatus) on the patient’s response. Study Design:  Interventional case series. Place and Duration of Study:  Al-Haitham Eyes Teaching Hospital in Baghdad, Iraq, from November 2021 and September 2022. Methods:  Fifty eyes of 47 patients with treatment naïve wet AMD were selected through convenient sampling. Data were collected for age, gender, smoking, and chronic disease. Clinical examination, best corrected visual acuity (BCVA), optical coherence tomography angiography

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Publication Date
Tue Jul 15 2025
Journal Name
Wasit Journal Of Sports Sciences
The impact of the Needham model on learning the skills of dribbling and handling in football for students
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Publication Date
Tue Dec 22 2020
Journal Name
Lecture Notes In Civil Engineering
Evaluating the Performance of Flexible Passive Pile Group in Cohesionless Soil Under the Effect of a Nearby Embankment
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Publication Date
Sun May 10 2015
Journal Name
Al-academy
The concept of eliminating and relating in the Paintings of the artist Mahdi Mutashar: جواد عبدالكاظم فرحان الزيدي
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This research main goal is to identify the concept of relating and eliminating in visual arts and how does work as a philosophic and aesthetic concept of great importance in visual arts, specially in abstract field, for it is related to ornament (geometrical or botanical) for its rising is a sign for the operations of adding and deleting, and studying art products with such trend in their configuration and the boundaries of utilizing this concept. Then taking the art works of the artist Mahdi Mutashar as a research sample for procedural analysis. And outputs that tend in this direction in it's formal being and know the limits of the concept of work -related dialectically interconnected. And then deal procedurally with the works of Iraqi

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Publication Date
Sun Jun 02 2013
Journal Name
Baghdad Science Journal
Some Probability Characteristics Functions of the Solution of Stochastic Fredholm Integral Equation Contains a Known Sine Wave Function
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Abstract:In this paper, some probability characteristics functions (moments, variances,convariance, and spectral density functions) are found depending upon the smallestvariance of the solution of some stochastic Fredholm integral equation contains as aknown function, the sine wave function

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Publication Date
Fri Jan 01 2016
Journal Name
Asian J Pharm Clin Re
EFFECT OF NATURAL AND SYNTHETIC POLYMERS ON THE PROPERTIES OF CANDESARTAN CILEXETIL MATRIX TABLET PREPARED BY DRY GRANULATION
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Publication Date
Mon Jul 20 2020
Journal Name
Ibn Al-haitham Journal For Pure And Applied Sciences
Applying Shrinkage Estimation Technique of P(Y<Max X1, X2,…, Xk) in Case of Generalized Exponential Distribution
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     This paper concerned with estimation reliability (­ for K components parallel system of the stress-strength model with non-identical components which is subjected to a common stress, when the stress and strength follow the Generalized Exponential Distribution (GED) with unknown shape parameter α and the known scale parameter θ (θ=1) to be common. Different shrinkage estimation methods will be considered to estimate ­ depending on maximum likelihood estimator and prior estimates based on simulation using mean squared error (MSE) criteria. The study approved that the shrinkage estimation using shrinkage weight function was the best.

 

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Publication Date
Fri Jan 05 2024
Journal Name
Al-academy
References of the directed education to the Member Teaching Stuff performance in the departments of the art Education
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This study has came as a result to discover on the references of the educational theories which leads the professors in the educational art departments in the Iraqi universities through knowing these ideological references indeed in an important slice of the society. This slice is: the members of professoriate. The study goal knows the ideological references to these theories for the professors in these departments.
In order to approve the research's goals. The researcher has selected a sample contains (50) professoriate members in these departments in the Iraqi universities which they have the educational art profession among the next scientific degrees (assistant teacher. teacher. assistant professor & professor).
The resea

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