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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
Fri Aug 15 2025
Journal Name
Journal Of Baghdad College Of Dentistry
Studying the effect of addition a composite of silanized Nano-Al2O3 and plasma treated polypropylene fibers on some physical and mechanical properties of heat cured PMMA denture base material
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Background: Polymethyl methacrylate (PMMA) is the most commonly used material in denture fabrication. The material is far from ideal in fulfilling the mechanical requirements, like low impact and transverse strength, poor thermal conductivity. The purpose of this study was to evaluate the effect of addition a composite of surface treated Nano Aluminum oxide (Al2O3) filler and plasma treated polypropylene fiber (PP) on some properties of denture base material. Materials and methods: One hundred fifty prepared specimens were divided into 5 groups according to the tests, each group consisted of 30 specimens and these were subdivided into 3 groups (unreinforced heat cured acrylic resin as control group),reinforced acrylic resin with( 0.5%wt Nan

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Publication Date
Sun Oct 01 2017
Journal Name
Journal Of Educational And Psychological Researches
The effect of using active learning model in the achievement of fourth -grade material in the de partment of physics teaching aids students and the development then critical thinking
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Goal  of  research  is  to  investigate  the  impact  of the  use  of  effective  learning  model in the  collection  of  the  fourth  grade  students/Department of  physics in the material  educational methods  and the  development  of  critical thinking  .to teach  this goal  has  been  formulated  hypothesis cefereeten zero  subsidiary  of the second hypothesis  .To  investigate  the  research  hypothesis  were  selected  sample  of  fourth-grade  students of the  department  of physics at the univers

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Publication Date
Wed Aug 01 2018
Journal Name
Journal Of Economics And Administrative Sciences
The Impact of Using the international standard for Training (ISO-10015) to Improve the Quality of the Control Activity – A Survey Study at the Federal Board of Supreme Audit.
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The great  importance of training made it as an investment for the organization, and assert the Quality of performance which support it by prepare the employee to the Current and future Jobs . The Research problem a rounded about How to measure the impact of training based on (ISO 10015) and its effect on the Quality of performance , How to evaluation the results of training to attained the training goals . The Research aims to find out the effects of application of international standard guidelines (ISO 10015) to attained the quality of audit work achieved in the Federal Board of Supreme Audit. The Research sought to achieve a number of objectives cognitive and applied on the basis of four key assumptions, and other su

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Publication Date
Wed Dec 28 2022
Journal Name
Al–bahith Al–a'alami
Contents of Campaign Advertisements “Take the Vaccine . to Protect Yourself” to Raise Awareness about Vaccines Against صthe Covid-19 Virus (Analytical Study of the Ministry of Health Facebook Page)
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        This paper aims to identify the contents of the advertisements of the (Take the Vaccine .. to Protect Yourself) campaign that was carried out by the Iraqi Ministry of Health for the period from (11/19/2020) to (4/1/2022), to raise awareness of the anti-Covid 19 virus vaccines, which it published on its official page on Facebook. The researcher used a comprehensive inventory method for the research community, and used the content analysis tool.                                                                             

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Publication Date
Sun Jun 30 2024
Journal Name
Association Of Arab Universities Journal Of Engineering Sciences
The impact of flexibility in the design of educational interior spaces (University of Baghdad Studio as a model) (أثر المرونة في تصميم الفضاءات الداخلية التعليمية (مراسم جامعة بغداد أنموذجا
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Publication Date
Mon Nov 26 2018
Journal Name
Al-khwarizmi Engineering Journal
Study the Effect of Different Percentages of Natural (Orange Peels and Date Seeds) and Industrial Materials (Carbon and Silica) on the Mechanical and Thermal Properties of Polymeric Reinforced Composites
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Mechanical and thermal properties of composites, consisted of unsaturated polyester resin, reinforced by different kinds of natural materials (Orange peels and Date seeds) and industrial materials (carbon and silica) with particle size 98 µm were studied. Various weight ratios, 5, 10, and 15 wt. % of natural and industrial materials have been infused into polyester. Tensile, three-point bending and thermal conductivity tests were conducted for the unfilled polyester, natural and industrial composite to identify the weight ratio effect on the properties of materials. The results indicated that when the weight ratio for polyester with date seeds increased from 10% to 15%, the maximum Young’s modulus decreased by 54%. When the weight rat

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Publication Date
Tue Mar 31 2020
Journal Name
College Of Islamic Sciences
The benefits extracted from Surah of Prophet Mohammed ( peace upon him and on his family) from the beginning of Surah until the end of Ayah 15/ the 1st part
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The current study is concerned  over the  benefits  from  our Prophet  ' Surah , these   benefits  are seven  which are : the first : (  The  losing  , disappointment ,  weakness  in the affairs  of those disbelievers ,the second : showing the affairs of the believers   in respect to integrity ,  forgiveness   and rest, the third :  Indicating  the big difference  between the believers and disbelievers , each team has   his own characteristics that being distinguished from the other,  I have explained  the benefit   that the disbelievers are in a difficult

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Publication Date
Wed Apr 01 2015
Journal Name
Journal Of Economics And Administrative Sciences
Evaluation of Drinking Waters’ projects in accordance with the standard Malcolm Baldrige Award for Excellence in the framework of total quality management / applied research in Water Department of Baghdad
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The research aims to evaluate the selected projects from the water Department of Baghdad, according to a standard for total quality management and to achieve this goal , adopted the case study method to get to know how close or turn away those projects in the management of Standard Malcolm Baldrige Award for Excellence in Quality Management its comprehensive one scales the world's most famous in this area , in order to draw a general framework to evaluate how project management can benefit from this approach to modern management , input from the entrances of the comprehensive management reform and development.

Be standard Malcolm Baldrige Award of several elements: - leadership , strategic planning , foc

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Publication Date
Mon Jan 02 2023
Journal Name
Pakistan Heart Jornal
The Effect of the Strategy of Differentiated Education According to the Auditory Learning Style by Using Assistance in Learning the Back Kick (T-Chagi) for the Young Players of …
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Publication Date
Fri Aug 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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