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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
Wed Mar 30 2022
Journal Name
Journal Of Educational And Psychological Researches
The extent to which the content of social and national studies courses is included With interactive thinking maps for the stages of public education in the Kingdom of Saudi Arabia
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The present study aimed to identify the extent to which the content of social and national studies courses was included in interactive thinking maps in the educational stages in the Kingdom of Saudi Arabia, and to achieve the goal of the study, the researcher used the descriptive and analytical approach, and the study tool used consisted of a content analysis card; Where it included a list of the types of thinking maps, where the study sample consisted of all social and national studies courses at the elementary and intermediate levels, and it is (12) books for the student in its first and second parts, and after verifying the validity and reliability of the tool, it was applied to the study sample, and the study reached conclusions, inc

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Publication Date
Fri Sep 30 2022
Journal Name
Journal Of Accounting And Financial Studies ( Jafs )
The extent of compliance with the Central Bank’s of Iraq instructions regarding the liquidation real estate allocation and its impact on the fairness of the financial statements : An applied research
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 The financial statements   must accurately, clearly and fairly present the financial situation and financial statements should be reliable as well. Pursuant to Board Decision No. (74)  2020, CBI obliges banks, according to the Banking Law No. (94) for the year 2004, Article (33) paragraph 2  concerning real estate owned from previous years and expropriated as a result debt settlement , to apply a real estate liquidation provision  at  a  rate of 20% for each property expropriated and at a rate of 100% for each year of delay up to (5) years  .also from  the significance of the issue of  real estates that become a property of   banks as a result of debt settlement and the pr

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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.)
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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

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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
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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

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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
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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

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Publication Date
Sun Mar 01 2015
Journal Name
Baghdad Science Journal
Study of the Toxic effect of new Cadmium ( II) complex [ CdL2]. 1/2H2O on GPT and ALP activity in some organs of female mice comparable with anitumor drug Cyclophosphamide (CP)
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Cadmium has been known to be harmful to human healthy , manily Via contaminated drinking water , food supplies , tobacco and industrial pollutant . The aim of this study was to determine the toxicity of new Cadmium (II) complex ( Bis[ 5- ( P- nitrophenyl ) – ? 4 – Phenyl- 1,2,4- triazole -3- dithiocarbamatohydrazide] cadmium (II) Hydra ( 0.5) and compare it with anticancer drug cyclophosphamide ( CP) in female albino mice . This complex causes to several alterations in Enzymatic activity of Glutamate Pyruvate Transaminase (GPT) and Alkaline Phosphatase (ALP ) in three organs after the treatment of mice with different doses of a new cadmium (II) complex ( 0.09 / 0.25ml , 0.18/ 0.5ml and 0.25mg /0.7 ml /30 gm of mous

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Publication Date
Thu Apr 20 2017
Journal Name
International Journal Of Science And Research (ijsr)
Learning Styles according to the Model of Felder & Silverman and its Relationship with Mathematical Self-perceived Efficacy to Students of the College of Education for Pure Sciences-Ibn Al-Haitham
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This research aims toknow the learning styles according to the model of Felder and Silverman and its relationship to effectively self- perceived mathematicalamong students of the Faculty of Education Pure Sciences - Ibn al-Haytham. By answering the following questions: 1. What are the preferred methods of learning among students in the mathematics department according to the model Felder and Silverman? 2. What is the mathematicalself-perceived levelof the students at the Department of Mathematics effectiveness level? 3. What is the relationship between learning styles according to the Felder model and Silverman and the effectiveness of mathematical self-perceived of the students of the Department of Mathematics? The research sample consiste

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Publication Date
Wed Jan 11 2023
Journal Name
College Of Islamic Sciences
The jurisprudential aspects of Imam Abu al-Fayyadh al-Basri And its impact on the Shafi’i school of thought, In the provisions of transactions, personal status, felonies, borders, and others
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Summary of the discussion of the jurisprudential aspects of Imam Abu Al-Fayyad Al-Basri, and their impact on the Shafi’i school, on the provisions of transactions, personal status, janaabah, limits, and others

      Praise be to God, Lord of the Worlds, and prayers and peace be upon the Master of the Messengers, our master Muhammad, and upon his pure family, and his ignorant and ignorant companions, and those who followed them in goodness until the Day of Judgment.

     Then:

     The many jurisprudential aspects that the Shafi’i imams said are of great importance, because these aspects are nothing but the opinions of venerable jurists who have reached a high degree of knowledge unti

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Publication Date
Wed Jan 05 2022
Journal Name
Journal Of Positive School Psychology
Influence Of Variance In Rest Interval For The Explosive Power Training For The Arms And Legs In The Light Of Some Biochemical Indicators For The Cellular Equilibrium Of The Volleyballers
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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
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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

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