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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 Apr 01 2021
Journal Name
Journal Of Engineering Science And Technologythis Link Is Disabled
Cfd simulation for the operation effect of gates openings of al-hay regulator on the local erosion
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Publication Date
Wed Jul 03 2013
Journal Name
Journal Of Earth Sciences And Geotechnical Engineering
Time Domain of Piles Force and Deflection History of Piled Raft System under Axial Repeated Impact Load
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In order to understand the effect of the number of piles (N), the history response of dynamic pile load in piled raft system and deflection time history of piled raft under repeated impact load applied on the center of piled raft resting on loose sand, laboratory model tests were conducted on small-scale models. The results of experimental work are found to be dynamic load increase with increase height of drop, the measured repeated dynamic load time history on the center of piled raft was close approximately to three a half sine wave shape with small duration in about (0.015 Sec). The maximum peak of impact loads occurs in pile and deflection time history occur after at the time of the peak repeated impact loads, dynamic pile load

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Publication Date
Tue Feb 01 2022
Journal Name
Journal Of Ovonic Research
Effect of copper on physical properties of CdO thin films and n-CdO: Cu / p-Si heterojunction
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Publication Date
Thu Jan 15 2015
Journal Name
مجلة كلية التربية-المؤتمر العلمي التخصصي لكلية التربية
Investigation the Effect of Irradiation by Gamma-Ray on the Structural and Optical Properties of (CIGS) Films
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Publication Date
Mon Jan 01 2018
Journal Name
Journal Of Engineering And Applied Sciences
Current status of biomedical waste management in some universities in Baghdad and central public health of laboratories
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The Current status of biomedical waste of solid, liquid and gaseous formulations from medical and educational laboratories in Iraqi universities and research centers was assessed using a well-structured questionnaire. The questionnaire was distributed to scientists, researchers, medical technicians and graduate students who are directly involved in laboratoiy daily activities. The responses were analyzed statistically and interpreted accordingly. The results showed diat the frequency of questionnaire respondent's affiliation gave the highest percentage frequency (69.4%) with the questionnaire of Technical Medical Institute/Al-Mansour while constitute die responses of the Dnig Control Department/Ministry of Sciences and Technology gave the l

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Publication Date
Sat Jan 01 2022
Journal Name
Annals Of Parasitology
Evaluation the therapeutic efficacy of different concentration of amphotericin B drug in mice infected with visceral leishmaniosis
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Liposomal amphotericin B (Amph B) has been used effectively to treat leishmaniosis, in spite of its high toxicity appeared in some patients. In our study, Amph B was administered in Leishmania donovani that infected BALB/c male mice using different concentrations to evaluate its efficacy challenge against infection as well as its effect in modulating immunity of the host. We observed that low doses with short duration of Amph B as a therapy regime significantly enhanced the induction of Th1 cytokine (INF-γ), but suppressed Th2 cytokine (IL-10) production. Groups of mice infected with L. donovani and treated with Amph B showed clearly increasing in INF-γ level and reduction in IL-10 level in concentration (3, 4, 5 mg/ml/kg) with best resul

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Publication Date
Tue Feb 11 2025
Journal Name
Journal Of Kufa For Chemical Sciences
Evaluation of Oxidative Stress and Liver Function Parameters in the Sera Samples of Kufa Cement Factory Workers
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AbstractThe objective of the present study was measured of several oxidative stresses and liver function parameters in workers occupationally exposed to cement dust in Kufa Cement Factory, in order to test the hypothesis that cement dust exposure may perturb these parameters. Assessment of oxidative stress and liver function parameters were performed in 63 workers occupationally, in different departments of Kufa Cement Factory, exposed to cement dust (range of the exposure time was 5-38 years) and 36 matched unexposed controls. The study results illustrated an increasing in the oxidative stress parameters, moreover; liver function parameters showed abnormal results in the exposed workers compared to the unexposed. An increase in theses para

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Publication Date
Tue Jul 11 2023
Journal Name
Journal Of Educational And Psychological Researches
International Studies Concerning Teachers’ Attitudes towards the Inclusion of Students with Special Educational Needs: Review of Literature
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Over the years, the issue of inclusion of students with special educational needs (SEN) in mainstream schools is controversial worldwide. Evidence from research argues that without a positive teachers’ attitude towards the inclusion of students with SEN in mainstream schools, the successful implementation of inclusion is most likely doubtable. The aim of this paper is to understand teachers’ attitudes towards the inclusion of students with SEN in mainstream schools from different perspectives and from different contexts. The conclusion drawn in this review can be that teachers’ attitude is the most important key towards the appropriate inclusion implementation in mainstream schools. The disparity of teachers’ attitudes towards th

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Publication Date
Tue Jul 10 2012
Journal Name
25-26 Sep Tikrit Journal For Pure Science Special Issue For The 2nd Scientific Conference
Effect of mycorrhiza Glumus mosseae and bacteria Bacillus polymyxa in some of physiological characteristics in Hordeum vulgare
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Publication Date
Sun Jan 01 2017
Journal Name
Pertanika Journal Of Science & Technology
Modified Kohonen network algorithm for selection of the initial centres of Gustafson-Kessel algorithm in credit scoring
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Credit risk assessment has become an important topic in financial risk administration. Fuzzy clustering analysis has been applied in credit scoring. Gustafson-Kessel (GK) algorithm has been utilised to cluster creditworthy customers as against non-creditworthy ones. A good clustering analysis implemented by good Initial Centres of clusters should be selected. To overcome this problem of Gustafson-Kessel (GK) algorithm, we proposed a modified version of Kohonen Network (KN) algorithm to select the initial centres. Utilising similar degree between points to get similarity density, and then by means of maximum density points selecting; the modified Kohonen Network method generate clustering initial centres to get more reasonable clustering res

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