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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
Mon Apr 04 2022
Journal Name
Journal Of Educational And Psychological Researches
Some Indicators of Learning Difficulties and their Relationship to the Self-Concept of Elementary School Students (Case Study)
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The aim of the research is to identify learning difficulties and their role in children's perception of self-concept. The researcher adopted the descriptive and analytical approach method in this study. A questionnaire was designed by the researcher to collect some related information such as biodata, family, health, diagnostic and behavioral patterns of the case. In addition, the researcher adopted the scale of learning difficulties for elementary school students prepared by Zaidan Ahmed Al-Sartawi (1995), the scale of student appreciation for the survey of learning difficulties for primary school students by Michael Best, which was translated to the Arabic language by (Saeed Abdullah Debis). The researcher adopted also the Self-Concept

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Publication Date
Fri Oct 04 2013
Journal Name
International Journal Of Scientific Research
therapeutic effect of aqueous extract of vitis vinifera L. againts thyrotoxicosis induced by Levothyroxine sodium in rabbit females
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Publication Date
Tue May 16 2023
Journal Name
International Journal Of Professional Business Review
The Mediating Role of Operations Management Practices on the Relationship Between the Dimensions of Manufacturing Flexibility and Competitiveness
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Purpose: The aim of this study is to examine knowing the real role and impact of manufacturing flexibility on competitiveness through operations management practices, which is to determine the role and impact of manufacturing flexibility on competitiveness directly in the General Company for the Battery Industry. On the other hand, identifying the indirect role of flexible manufacturing systems in enhancing competitiveness.   Theoretical framework: The main purpose of the theoretical framework is to identify all the dimensions and variables included in the current study, and thus form a deep scientific view of the study and its variables.   Design/methodology/approach: field coexistence, personal interviews, and classification of

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Publication Date
Wed Aug 06 2025
Journal Name
Journal Of Physical Education
The Effect of Proposed Exercises Using Sponge Mat On the Level of Performing Offensive Skills in Sitting Volleyball
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Publication Date
Sun Jun 06 2010
Journal Name
Baghdad Science Journal
Preparation of Media for Growth and Isolation of Lactic Acid Bacteria by Using the Starch-Industry by- Products
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By- products of corn starch industry were used to prepare media for propagation the lactic acid bacteria as a natural auxotroph. The by- products used were the corn steep water (S) and gluten extract (G) after a proper treatment to get them ready for media preparation. The results showed that it was possible to replace the peptone and meat extract by gluten extract in MRS medium. The growth was approximately similar to that obtained in standard MRS media. Corn steep water (S) was used as well and the growth enhanced by including Tween – 80 at 1% level. The later media named MZ, which was superior for growing standard and local strains and starters. The MZ medium modified by adding acetate and glacial acetic acid similarly to

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Publication Date
Fri Jul 24 2020
Journal Name
Indian Journal Of Forensic Medicine &amp; Toxicology
Impact of Exposure Period to Liquid Nitrogen Vapor on Criteria of Human Spermatozoa Cryopreserved in New Cryopreservation Technique
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Abstract Background: The emptied sheep’s ovarian follicles recently used as a container for spermatozoa during cryopreservation, it was found a proper carrier to cryopreserving spermatozoa in vapor-dependent cryopreservation. The aim of this study was to evaluate the effect of two periods of exposure to liquid nitrogen (LN2)vapor on the parameter of spermatozoa during cryopreservation in this technique. Method: The study was conducted on 30 semen samples from patients with oligozoospermia diagnosed by semen analysis according to the standard criteria of World Health Orgnization (WHO) 2010. Sheep’s ovarian follicles obtained from local slaughterhouse and prepared by slicing the ovaries and evacuating the follicular fluid and oocyt

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Publication Date
Fri Jul 21 2023
Journal Name
Journal Of Engineering
EFFCT OF HOOPS AND COLUMN AXIAL LOAD ON SHEAR STRENGTH OF HIGH-STRENGTH FIBER REINFORCED BEAM-COLUMN JOINTS
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A reinforced concrete frame is referred as "RIGID FRAMES". However, researches indicate that the Beam-Column joint (BCJ) is definitely not rigid. In addition, extensive research shows that failure may occur at the joint instead of in the beam or the column. Joint failure is known to be a catastrophic type which is difficult to repair.
This study was carried out to investigate the effect of hoops and column axial load on the shear strength of high-strength fiber reinforced Beam-Column Joints by using a numerical model based on finite element method using computer program ANSYS (Version 11.0). The variables are: diameter of hoops and magnitude of column axial load.
The theoretical results obtained from ANSYS program are in a good a

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Publication Date
Tue Oct 01 2019
Journal Name
Journal Of Economics And Administrative Sciences
The role of drinking water quality in achieving customer satisfaction Applied research in the Directorate of water Diwaniyah
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ABSTRACT    

The purpose of the research is to identify the role of drinking water quality in achieving customer satisfaction in one of the formations of the Ministry of Construction, Housing and Public Municipalities (Diwaniyah Water Directorate), as they are important service organizations that have a fundamental role in serving the community. Faced many administrative challenges, as a result of the continuous and accelerating environmental changes, environmental pollution and immaturity of social awareness and social responsibility, as these contributed to and affected the quality of drinking water, Therefore, it is necessary to know the role of quality, specifically "drinking water and its effect o

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Publication Date
Wed Aug 07 2019
Journal Name
Iraqi National Journal Of Nursing Specialties
Effectiveness of an Instructional Program Concerning premarital screening of sexual transmitted disease on Student's Knowledge at Baghdad University
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Objectives: To identify the effectiveness of instructional program concerning premarital screening of sexual transmitted disease on student's knowledge at Baghdad University and examine the relationship between students' knowledge and certain studied variables. And hypothesis for this study; There is a difference in university student’s knowledge toward premarital screening between pre and posttests of instructional program. Methodology: A quasi-experimental design (pretest-posttest approach) was conducted at six colleges and its college of education ibn rushd, college of political science, college of law, college of literatur

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Publication Date
Thu Feb 17 2022
Journal Name
Teikyo Medical Journal
Study the Effect of different doses of Rapamycin on the liver development in the Swiss Albino Mice Embryos
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The current study, which extended from February 2020 to June 2021 at the University of Thi- Qar\ College of Education for Pure Sciences, aimed to follow the changes in external morphological features at different Embryonic Developmental stages in pregnant mice treated with different doses of Rapamycin (Rapa). Use In this study, 32 pregnant mice were divided randomly into four groups, each of which had eight pregnant mice. Each group received different dose of Rapa via intraperitoneally injection at different gestation days until the end of the specified periods, whereas the control group received a DMSO. Mice were administered under the same circumstances and dosages were determined based on body weight, as specified in pharmaceutical const

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