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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 Feb 06 2026
Journal Name
Advances In Agriculture And Animal Sciences
Identification and Molecular Detection of Klebsiella spp. from the Buccal Cavity of Humans and Dogs
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Klebsiella infections in the oral cavities of both humans and dogs have been increasingly reported and are associated with various buccal infections, as well as systemic infections. These infections appear to be rising particularly among pets and their owners, suggesting a possible bidirectional transmission between humans and dogs. Therefore, this study aimed to investigate the potential link of mixed infections involving Klebsiella pneumoniae and Enterococcus spp. Buccal cavity samples were collected from humans (n = 25) and dogs (n = 25). Samples were initially enriched in tryptic soy broth and subsequently cultured on tryptic soy agar, MacConkey agar, and blood agar. All isolates were identified using the VITEK 2 system, and eight selec

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Publication Date
Fri Apr 05 2024
Journal Name
International Journal Of Science And Research (ijsr)
Effect of Body Mass Index on Eruption Time of Permanent First Molars and Incisors among a Group of 6- 8 Year Old Iraqi School Children
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Publication Date
Fri Jun 12 2026
Journal Name
Al–bahith Al–a'alami
The role of Iraqi newspapers in instilling political culture among the public after 2003, a field study on the audience of the city of Baghdad
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The role of Iraqi newspapers in instilling political culture among the public after 2003, a field study on the audience of the city of Baghdad, University of Baghdad, College of Information, Department of Journalism, 2019,
The problem of research is to investigate the role of Iraqi newspapers in instilling the political culture of individuals after 2003, and monitor this role Through the contents and messages provided by the Iraqi newspapers to the public. the research is classified within descriptive research, it adopts the survey methodology and used the questionnaire tool. In fact, the questionnaire was distributed to a sample of 400 individuals that was selected according to the method of multi-stage cluster sample of those who re

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Publication Date
Mon Jan 27 2020
Journal Name
Journal Of Accounting And Financial Studies ( Jafs )
Analysis of the relationship between the Premiums and compensations in Life Insurance: An Applied Research in the General Iraqi Insurance Company
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           Communities seek to achieve the economic growth through the optimal use of resources. The human resource is considered the most important of those resources where the insurance institutions take the larger role in the protection of this resource and reducing the impact caused by dangers realization that endures. The general Iraqi insurance company is considered the leading in the field of life insurance since it was founded, and until now.

          This research is based on an analyzing the relation between premiums and compensations   of life insurance, for individual and the group insurance, and a reality of the

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Publication Date
Sat Jan 01 2022
Journal Name
Journal Of Clinical And Experimental Dentistry
Prevalence of periapical lesions in non-endodontically and endodontically treated teeth in an urban Iraqi adult subpopulation: A retrospective CBCT analysis
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Publication Date
Sat Jan 01 2022
Journal Name
Journal Of Clinical And Experimental Dentistry
Prevalence of periapical lesions in non-endodontically and endodontically treated teeth in an urban Iraqi adult subpopulation: A retrospective CBCT analysis
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Publication Date
Thu Feb 01 2024
Journal Name
Baghdad Science Journal
Traditional and molecular methods for diagnosing bacterial meningitis in Erbil city, Iraq
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Bacterial meningitis is a leading cause of illness and death worldwide. It is crucial for clinical and public health care, as well as disease control, to identify the meningitis-causing agent promptly. Between June 2021-February 2022, a total of 100 cerebrospinal fluid (CSF) and blood samples were collected from suspected cases of meningitis admitted to Raparin Paediatric Teaching Hospital, Erbil city-Iraq. Cytochemical, cultural, and biochemical tests were conducted, and confirmed by molecular techniques. Bacterial culture findings were positive in 7% of CSF samples and just one positive among blood samples. The most common pathogens found by cultural characteristics and VITEK 2 Compact System were Staphylococcus sciuri in two

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Publication Date
Fri Sep 23 2016
Journal Name
Spie Proceedings
Quantifying charge trapping and molecular doping in organic p-i-n diodes
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Publication Date
Thu Sep 23 2021
Journal Name
Egyptian Journal Of Chemistry
Some 3,4,5-Trisubstituted-1,2,4-triazole Synthesis, Antimicrobial Activity, and Molecular Docking Studies
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Publication Date
Thu Jun 20 2024
Journal Name
Acta Facultatis Medicae Naissensis
Clinical properties and seminal fluid analysis of patients with primary infertility consulting the urology outpatient clinic for the first time: A cross-sectional study
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Introduction/Aim. Seminal fluid analysis (SFA) plays a crucial role in helping infertility clinics diagnose the underlying reason of male infertility. The aim of the study was to investigate seminal fluid patterns of male partners of an infertile couple with apparently fertile female partners. Materials and methods. A cross-sectional study was conducted between January 2019 and December 2022. Patients were attending consultations for delayed conception for more than 12 months with apparently fertile female partner. Results. Four hundred fifty-three patients were included in the study. The distribution of patients according to age groups showed that 277 patients were young, aged 21 - 30 years (61%). Two hundred sixty-two (58%) patien

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