Preferred Language
Articles
/
Yxc-zZIBVTCNdQwCG8Cr
Molecular analysis of CFTR gene mutations among Iraqi cystic fibrosis patients
...Show More Authors
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.

Scopus Clarivate Crossref
View Publication
Publication Date
Sun Mar 31 2024
Journal Name
Techhub Journal
The effect of increasing the intensity of specialized endurance training on runners' ability in the advanced 1500-meter run in terms of vital capacity indicators (V.C.) and heart rate (S.V.)
...Show More Authors

The 1500m race event is part of the athletics system, and the continuous competition to break records and achieve the highest levels of achievement in athletics events, especially the 1500m race event, is one of the topics that occupies the minds of many people interested in achieving digital development for this event, given the distance of the race and the time it takes to complete it. Because it is unique from other events, it has characteristics that distinguish it from other events, despite it being a middle-distance event, which shares with them that its speed is measured by the step, which consists of the length of the step and its frequency. Increasing any of these two factors while keeping one of them constant or increasing

... Show More
View Publication
Crossref
Publication Date
Fri Jun 02 2023
Journal Name
Bandaoti Guangdian/semiconductor Optoelectronics
NMUSING AN INNOVATIVE DEVICE TO IMPROVE THE EFFICIENCY OF THE ANTERIOR QUADRICEPS MUSCLE OF THE INJURED KNEE JOINT AFTER SURGICAL INTERVENTION OF THE ANTERIOR CRUCIATE LIGAMENT IN ADVANCED SOCCER PLAYERS
...Show More Authors

This study aimed to manufacture an innovative device that enables the player to walk after the operation and improves the functional efficiency through the improvement in the range of motion as well as the improvement in the size of the muscles working on the knee joint. The research, the study population consisted of players with severing the anterior cruciate ligament of the advanced soccer players, and the number of the research sample was (5) injured for the control sample and (5) for the experimental sample in Abu Ghraib Hospital and some rehabilitation centers for a period of six months, and the pre-tests were conducted after two weeks of The cruciate ligament surgery was performed, and the innovative device was used for the e

... Show More
Preview PDF
Publication Date
Thu Jan 08 2026
Journal Name
Journal Mustansiriyah Of Sports Science
Relationship between Cognitive style (risk taking VS Cautiousness) and performance of some ring skills for third stage female students in College of Physical Education and Sport Sciences / University of Baghdad
...Show More Authors

View Publication Preview PDF
Publication Date
Thu Jun 01 2017
Journal Name
Journal Of Economics And Administrative Sciences
Customers emotional blackmail and reduce it the new product- study of the opinions of a sample of customers who deal with peak economy for household items in najaf al Ashraf
...Show More Authors

The challenges facing today's multi-customer and this is due to the multiplicity of products and speed in launching new products so search came to reveal the  reveal the of the new product classification standards through a relationship (good products, low interest products, useful products and products desired) and the customer emotionally blackmail through deportation (fear, obligation and guilt). dentified the problem of the research in several questions focused on the nature of the relationship between the variables of research, and for that outline supposedly to search it expresses the head of one hypothesis and branched out of which four hypotheses subset, but in order to ensure the validity of the ass

... Show More
View Publication Preview PDF
Crossref
Publication Date
Wed Jun 03 2020
Journal Name
Political Sciences Journal
The Muslim Arab Self and the image of the other, religiously and culturally different: a critical analytical study of the causes and forms of political and social intolerance in Iraq
...Show More Authors

This research aims to analyze the intellectual and civilizational regression that afflicted Iraqi and Arab society due to political and religious tyranny and internal conflicts, which was reflected in the deterioration of human rights values and the absence of equality and justice in dealing with the other religiously, which affected the reluctance of members of religious groups to interact with their national societies and then migrate to Outside, which contributed to a double loss, in terms of the loss of these societies by productive and effective national competencies, and in terms of distorting the image of Islam. The research stressed that the first treatments of this phenomenon are the consolidation of the values of citize

... Show More
View Publication Preview PDF
Crossref
Publication Date
Wed Jun 30 2021
Journal Name
College Of Islamic Sciences
Phonological, dialectical and semantic explanation of the two phenomena of substitution and compulsion in the book of translation Thirty surahs from the Noble Qur’an by Ibn Khallouh d. 370 AH
...Show More Authors

This research aims to find out the phonemic, dialect and semantic ailments that were interrogated by the book of the parsing of thirty surahs of the Noble Qur’an by Ibn Khalawiyeh, by examining some phonemic phenomena of Qur’anic expressions and their explanatory relationships that resulted in their occurrence, such as substitution and compression, as the sounds in a word are affected by one another, especially during performance and composition. This influence and influence is the tendency of the human being to the law of ease, facilitation, and the reduction of muscular effort in speech often, all for the purpose of obtaining phonemic harmony for the compound letters; To facilitate pronunciation; And get rid of the muscular effort

... Show More
View Publication Preview PDF
Publication Date
Wed Jan 01 2020
Journal Name
Karbala Journal Of Physical Education Sciences
The effect of using a designed device to develop the technical performance of the descending landing skill facing with half a cycle on the parallel device of the technical men's
...Show More Authors

The research included five sections containing the first section on the introduction of the research and its importance and was addressed to the importance of the game of gymnastic and skilled parallel effectiveness and the importance of learning, but the problem of research that there is a difference in learning this skill and difficulty in learning may be one of the most important reasons are fear and fear of falling and injury, And a lack of sense of the movement of the movement is one of the obstacles in the completion of the skill and the goal of research to design a device that helps in learning the skill of descending Almtor facing with half a cycle according to the typical locomotor track on the parallel device of the technical men'

... Show More
Preview PDF
Publication Date
Sun Dec 01 2019
Journal Name
Journal Of Accounting And Financial Studies ( Jafs )
Measuring the impact of internal control on tax performance using balanced score card indicators: An applied research in a sample of the branches of the General Tax Authority in Iraq
...Show More Authors

This research dealt with the impact of internal control on tax performance using balanced scorecard indicators because of its special importance in improving tax performance and reform. The internal control system is a safety valve for senior management in all organizations, it plays an important role in the regularity and development of work and the fight against corruption To provide reliable and accurate data and information, follow up on compliance with laws, regulations and instructions. The aim of this research is to demonstrate how control affects tax performance and how to adapt internal control components to improve tax performance. In the General Authority for taxes and its branches,. The research resulted in a number of conclu

... Show More
View Publication Preview PDF
Publication Date
Wed Jan 02 2019
Journal Name
Journal Of Educational And Psychological Researches
Women's rights in social studies and national textbooks in the secondary stage in the light of the international charters of women's rights and the cultural specificity of the Saudi society
...Show More Authors

Women's rights in social studies and national textbooks in the secondary stage in the light of the international charters of women's rights and the cultural specificity of the Saudi society Abstract The current study focuses on exploring women rights that required to be involved in social studies and national textbooks in the secondary stage in the light of international conventions on women's rights and cultural specificity of the Saudi society, as well as to reveal the teachers and educational supervisors' estimation about the degree of importance of those components included in the books, and then build a matrix of the range and sequence of women's rights in the books of social studies and national in the secondary stage. The study us

... Show More
View Publication Preview PDF
Publication Date
Fri Dec 01 2017
Journal Name
Journal Of Economics And Administrative Sciences
Office managers skills and it's impact on the effectiveness of time management A survey of a sample of departments managers in the institutes and faculties at the middle technical university
...Show More Authors

The objective of this study is to highlight the skills of office managers and it's impact on the effectiveness of time management in the institutes and faculties of middle technical university and a group of cognitive and practical aims. The managers skills forms mthe modern trend and the main source to provide organizations with highly skilled managers with distinctive performance and because of the sharp changes in the environment which today's organizations works in it , business organizations generally and managers especially realise the importance of time management and it's role in achieving competitive advantage . The problem of this study raised from this point which reflect the extent of departments managers realisation

... Show More
View Publication Preview PDF
Crossref