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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 Feb 06 2025
Journal Name
Al-fatih Journal
Impact exercises sense of the power arm in the level of performance skill in basketball clapotement
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أن كرة السلة بما تتضمنه من مهارات حركية متنوعة تتطلب من ممارسيها امتلاك عدد من القدرات الحركية الخاصة وبشكل خاص التوافق العضلي العصبي والرشاقة والقوة المميزة بالسرعة، فضلاعن قدرات الإدراك الحس- حركي (إدراك المكان وقوة دفع الكرة سواء بالطبطبة العالية أو الواطئة .... الخ ) لذا تكمن أهمية البحث في إيجاد الطرق والوسائل التي تطور قدرة الطالبة على إدراك قوة دفع الكرة والإحساس بها أثناء تعلم وتدريب الطبطبة بأنواعها ب

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Publication Date
Mon Sep 18 2023
Journal Name
Communications In Mathematical Biology And Neuroscience
Contribution of hunting cooperation and antipredator behavior to the dynamics of the harvested prey-predator system
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Fear, harvesting, hunting cooperation, and antipredator behavior are all important subjects in ecology. As a result, a modified Leslie-Gower prey-predator model containing these biological aspects is mathematically constructed, when the predation processes are described using the Beddington-DeAngelis type of functional response. The solution's positivity and boundedness are studied. The qualitative characteristics of the model are explored, including stability, persistence, and bifurcation analysis. To verify the gained theoretical findings and comprehend the consequences of modifying the system's parameters on their dynamical behavior, a detailed numerical investigation is carried out using MATLAB and Mathematica. It is discovered that the

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Publication Date
Tue Jun 20 2023
Journal Name
Baghdad Science Journal
Synthesis, Characterization and Antioxidant Activity of New Azo Ligand and Some Metal Complexes of Tryptamine Derivatives
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Publication Date
Wed Mar 18 2020
Journal Name
Baghdad Science Journal
Study of Second Hankel Determinant for Certain Subclasses of Functions Defined by Al-Oboudi Differential Operator
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The concern of this article is the calculation of an upper bound of second Hankel determinant for the subclasses of functions defined by Al-Oboudi differential operator in the unit disc. To study special cases of the results of this article, we give particular values to the parameters A, B and λ

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Publication Date
Sat Apr 30 2022
Journal Name
Iraqi Journal Of Science
The Effect of Silver Oxide on the Structural and Optical Properties of ZnO: AgO Thin Films
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Compounds from ZnO doped with AgO in different ratio (0,3,5,7, and 9)wt.% were prepared.Thin films from the prepared compounds were deposited on a glass substrate using the pulsed laser deposition method. The XRD pattern confirmed the presence of a single-phase hexagonal wurtzite ZnO structure, without the presence of a secondary phase. AFM measurements showed an increase in both average grain size and average surface roughness with increasing concentration content of (AgO).The crystallite size of ZnO of the main peak corresponding to the preferred plane of crystal growth named (100) increases from 17.8 to 22.5nm by increasing of AgO doping ratio  from 0 to 9%. The absorbance and transmittance in the wavelength range (350-1100 nm) were

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Publication Date
Sat Sep 23 2017
Journal Name
Ibn Al-haitham Journal For Pure And Applied Sciences
A Study of using Mesocyclops hyalinus and Cyclops agilis as A biological Control of Anophles larvae
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The fresh water ecosystem constitute an essential and very important for human life, for this reason it should be kept away from all the chemical pollutants including the pesticides The best way for Fighting harmful insects.(such as Anophles larvae) is by the biological control.

 

In the present study two species of Cyclopoida: Copepod, Mesocyclops hyalinus and Cyclops agilis Ø¢ were used as predators for Anophles larvae.

 

The data showed that the percentages of predation were 65% and 56%

forM. hyalinus and C. agilis respectively

 

and the means of predation were 1.3 larvae/ female and 1.1

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Publication Date
Wed Oct 05 2016
Journal Name
Al-academy
Modern technology and the possibility of their use for the development of the domestic copper industry
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Industries copper a craft that requires precision and patience great in the processes of industrialization and execution of product launches brass designs and a variety of forms , and the goal of research into the possibility of the use of modern technologies in the development of industries copper local , and identifies research study models of industries copper local to the city of Baghdad , and are available in the markets for the period from (200 - 2011) , Chapter II Multi industries copper local and technical in the copper industry , and after analysis models the sample was the most important conclusions : can work forms a multi- product copper formations deep or window using the technique work motifs and patterns. - formations deco

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Publication Date
Wed Jan 30 2019
Journal Name
Journal Of The College Of Education For Women
Detecting the effectiveness of two tools for detecting the talented from their teachers' points of view
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Education specialists have differed about determining the best ways to detect the
talented. Since the appearance of the mental and psychological measurement movement, some
scholars adopted intelligence ratios as a criterion to identify the talented and others went to
rely on the degree of academic achievement. Each of these two methods has its own flaws and
mistakes and a large number of talented children were victims of these two methods.
Therefore the need to use other scales for the purpose of detection of talented children
appeared because they provide valuable information which may not be obtained easily
through objective tests and these scales are derived from consecutive studies of gifted andtalented children

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Publication Date
Sun Nov 26 2017
Journal Name
Journal Of Engineering
Experimental Investigation of Nano Alumina and Nano Silica on Strength and Consistency of Oil Well Cement
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In oil and gas well cementing, a strong cement sheath is wanted to insure long-term safety of the wells. Successful completion of cementing job has become more complex, as drilling is being done in highly deviated and high pressure-high temperature wells. Use of nano materials in enhanced oil recovery, drilling fluid, oil well cementing and other applications is being investigated. This study is an attempt to investigate the effect of nano materials on oil well cement properties. Two types of nano materials were investigated, which are Nano silica (>40 nm) and Nano Alumina (80 nm) and high sulfate-resistant glass G cement is used. The investigated properties of oil well cement included compressive strength, thickening

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Publication Date
Wed Sep 14 2016
Journal Name
Journal Of Baghdad College Of Dentistry
Effect of Mouth Rinses on Surface Roughness of Two Methacrylate-Based and Siloraine-Based Composite Resins
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Background: Various fluids in the oral environment can affect the surface roughness of resin composites. This in vitro study was conducted to determine the influence of the mouth rinses on surface roughness of two methacrylate-based resin (nanofilled and packable composite) and siloraine-based resin composites.

Materials and methods: Disc-shaped specimens (12 mm in diameter and 2mm in height) were prepared from three types of composi

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