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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 Sep 01 2023
Journal Name
Journal Of Molecular Structure
Synthesis, spectral studies, DFT, biological evaluation, molecular docking and dyeing performance of 1-(4-((2-amino-5-methoxy)diazenyl)phenyl) ethanone complexes with some metallic ions
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Four Co(II), (C1); Ni(II), (C2); Cu(II), (C3) and Zn(II), (C4) chelates have been synthesized with 1-(4-((2-amino- 5‑methoxy)diazenyl)phenyl)ethanone ligand (L). The produced compounds have been identified by using spectral studies, elemental analysis (C.H.N.O), conductivity and magnetic properties. The produced metal chelates were studied using molar ratio as well as sequences contrast types. Rate of concentration (1 ×10􀀀 4 - 3 ×10􀀀 4 Mol/L) sequence Beer’s law. Compound solutions have been noticed height molar absorptivity. The free of ligand and metal chelates had been applied as disperse dyes on cotton fabrics. Furthermore, the antibacterial activity of the produced compounds against various bacteria had been investigated. F

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Publication Date
Fri Nov 14 2025
Journal Name
Sciences Journal Of Physical Education
The relationship of future anxiety to the level of academic ambition among female students
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Publication Date
Tue Sep 15 2020
Journal Name
Journal Of Baghdad College Of Dentistry
The impact of caries experience on quality of life among dental students in Iraq
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Background: Dental caries is generally given the highest priority in national oral health services for adult populations. Yet, there is no study which has explored the impact on quality of life specifically related to dental caries in samples of dental students. The purpose of the current study was to assess the impact of caries experience on quality of life among dental students in three governorates in Iraq. Materials and Methods: This observational study included 1364 dental students aged 18–22 years old, from three governorates. Information on quality of life was obtained from a structured, self-administered questionnaire from the students who were willing to participate in the study. The data was collected, summarized and sta

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Publication Date
Fri Dec 03 2021
Journal Name
International Journal Of Recent Contributions From Engineering, Science & It
The Skill of Making a Decision and its Relationship of Academic Achievement Among Students
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Publication Date
Tue Jul 11 2023
Journal Name
Journal Of Educational And Psychological Researches
The Effect of Daniel's Model on the Achievement of Chemistry Among Fifth Grade Student
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The aim of this research is to find out the influence of Daniel's model on the skills of the twenty-first century among the students of the scientific-fifth grade at the secondary and preparatory government morning schools for the academic year 2022- 2023. Two groups were chosen out of five groups for the fifth-scientific grade, one of which represents the experimental group that is taught by the Daniel model, and the other is the control group that is taught in the traditional method. The equivalence of the two research groups was verified with a set of variables. As for the research tool, a scale was developed by the researchers for the skills of the twenty-first century, in which they adopted the framework of the Partnership Organizat

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Publication Date
Sat Oct 01 2022
Journal Name
Revue Française D'allergologie
Knowledge among medical students regarding the prevention of future risk of allergic contact dermatitis
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Publication Date
Wed Mar 16 2022
Journal Name
Journal Of Educational And Psychological Researches
The Effect of Rational Emotional Visualization Style in Reducing Fear of Failure among Athletes
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The research seeks to design a program of guidance in the form of emotional perception rational to reduce the fear of failure, to identify the effect of method of emotional perception rational in reducing the fear of failure. To achieve these objectives, the researcher adopted the null-hypotheses, which assume there are no statistically significant differences in the degree of fear of failure (for the control group) in the pre-posttest. There are no statistically significant differences in the fear of failure (for the experimental group) in the pre-posttest. There were no statistically significant differences in the fear of failure of the groups (experimental and control) after the application of the program in the post-test. In order to

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Publication Date
Sun Feb 18 2024
Journal Name
Fitness, Performance And Health Journal
A Comparative Study of Some Types of Muscular Strength Among Middle-Distance Runner Athletes
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The research aims to conduct a comparative study between the events (800) m and (1500) m track in the types of muscular strength and to identify the differences between them among Iraqi sports club players. The sample represented the players participating in the Iraqi Athletics Championship for the period between (02/11/2023) and (04 /11/2023), and their number was (16) players (8) for each event, as the selection was made intentionally.  The researchers used the descriptive approach to achieve the goal of the research and used the statistical package (SPSS) to process the data statistically. According to the results collected, it was found that there was superiority among the intermediate track players (800) m in explosive power and the s

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Publication Date
Thu Dec 02 2021
Journal Name
Indian Journal Of Forensic Medicine & Toxicology
Study of Prevalence of Placenta Previa and Circumstances among Pregnant Women in Fallujah Hospital
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Placenta previa refers to placenta which is totally or partly implanted in lower segment of the uterus. Mortality and morbidity of mother increase with placenta previa due to the increase in the incidence of bleeding during pregnancy. This study aims to define placenta previa prevalence among pregnant women at AL-Fallujah teaching hospital and to determine the risk factors and their association with placenta previa incidence in al-Fallujah city population. This retrospective cohort study investigated medical registry of 6339 gravid women in al-Fallujah teaching Hospital in Iraq. We find 13 cases of placenta previa (0.21%) amongst the 6339 cases registered. The risk factors that strongly appeared to affect the complication of pregnancy with

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Publication Date
Fri Nov 14 2025
Journal Name
Journal Of Baghdad College Of Dentistry
Periodontitis among a Group of Type TwoDiabetic Patientsin Relation to Risk of Vascular Disease
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Background: Type two diabetic patients have higher risk of cardiovascular and periodontal disease. Furthermore, patients with more severe periodontal disease have higher incidence of cardiovascular disease. This study aimed to assess the association between periodontal health status and the risk of vascular disease in type 2 diabetic patients. Materials and Methods: One hundred type 2 diabetes mellitus patients and fifty apparently healthy males were enrolled in this study. Oral examinations conducted were; plaque Index, calculus index, gingival index, probing pocket depth, and clinical attachment level. For the assessment of vascular risk, arterial stiffness index was used. Results: According to arterial stiffness index, type 2 diabetic p

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