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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 Sep 15 2022
Journal Name
Journal Of Baghdad College Of Dentistry
Serum ferritin level and B12 in a sample of Iraqi re-current aphthous stomatitis patients
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Background: Recurrent aphthous stomatitis (RAS) is one of the most common oral mucosal disorders with a prevalence of 50-66%. The prevalence of hematinic deficiencies including ferritin and vitamin B12 deficiencies and their role in the prophylaxis and development of RAS is not well known. Many studies have demonstrated a high prevalence of hematinic deficiencies in patients with RAS. This study aimed to compare the serum level of ferritin and vitamin B12 in patients with recurrent aphthous ulcers and healthy controls. Subjects, Materials and Methods: The data were collected from patients who needed blood analysis to exclude anemia from November 2020 to May 2021. The study was approved by the institutional ethics committee. After recordi

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Publication Date
Sun Aug 01 2021
Journal Name
Arab World English Journal
Pragma-linguistic and Socio-pragmatic Transfer among Iraqi Female EFL Learners in Refusing Marriage Proposals
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In the framework of this study, the phenomenon of transfer is probed pragma-linguistically and socio-linguistically concerning marriage situations among Iraqi EFL learners. The study also strives to look at the refusal strategies most commonly employed by Iraqi female English as a foreign Language (EFL) learners compared to their counterparts, American native speakers of English. The study involved 70 female participants who answered a Discourse Completion Task (DCT), which contained ten marriage proposals to be refused. Each situation entailed refusal of a person from a higher, an equal, and lower status. The researchers adapted Beebe, Takahashi, and Uliss Weltz’s (1990) taxonomy of refusal for analyzing the data comprehensively. The

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Crossref (1)
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Publication Date
Tue Jun 15 2021
Journal Name
Arab World English Journal
Pragma-linguistic and Socio-pragmatic Transfer among Iraqi Female EFL Learners in Refusing Marriage Proposals
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In the framework of this study, the phenomenon of transfer is probed pragma-linguistically and socio-linguistically concerning marriage situations among Iraqi EFL learners. The study also strives to look at the refusal strategies most commonly employed by Iraqi female English as a foreign Language (EFL) learners compared to their counterparts, American native speakers of English. The study involved 70 female participants who answered a Discourse Completion Task (DCT), which contained ten marriage proposals to be refused. Each situation entailed refusal of a person from a higher, an equal, and lower status. The researchers adapted Beebe, Takahashi, and Uliss Weltz’s (1990) taxonomy of refusal for analyzing the data comprehensively.

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Publication Date
Thu Oct 01 2009
Journal Name
Iraqi Postgraduate Medical Journal
Ventral Penile Papillae as a New Anatomical Structure: A Clinical-Epidemiological Study Among Iraqi Male
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KE Sharquie, JR Al-Rawi, AA Noaimi, MM Jabir, Iraqi Postgraduate Medical Journal, 2009

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Publication Date
Thu Oct 01 2009
Journal Name
Journal
Ventral penile papillae as a new anatomical structure: a clinical-epidemiological study among Iraqi males
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S Khalifa E, AR Jamal R, N Adil A, J Munqithe M…, 2009

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Publication Date
Mon Jun 30 2003
Journal Name
Iraqi Journal Of Chemical And Petroleum Engineering
Study of the Drying of Ethanol using Zeolite Molecular Sieves
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Publication Date
Wed Jan 01 2020
Journal Name
Annals Of Tropical Medicine And Public Health
Salivary Protein Carbonyl Level in Relation to Gingival Health Status among a Group of Iraqi Pregnant Women
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Publication Date
Sun Sep 14 2025
Journal Name
Journal Of Baghdad College Of Dentistry
Effect of the examination stress on periodontal health status and salivary IL-1? among Iraqi dental students
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Background: Periodontal diseases (PD) are common chronic inflammatory diseases caused by pathogenic microorganisms colonizing the gingival area and inducing local and systemic elevations of pro-inflammatory cytokines resulting in tissue destruction by a destructive inflammatory process. Stress was considered as one of the important risk factors that cause many inflammatory diseases including PD. The purpose of this study wasto determines and compares clinical periodontal parameters (PLI, GI and BOP), stress level and salivary IL-1? level among dental students before, during and after mid-year exam, also to find the correlation among stress, IL-1? and clinical periodontal parameters. Materials and methods: The sample was consisted of 24 dent

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Publication Date
Sat Jun 19 2021
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Serum Chitotriosidase level as a Novel Biomarker for Therapeutic Monitoring of Nephropathic Cystinosis among the Iraqi children
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Background: Cystinosis is a rare autosomal recessive lysosomal storage disease with high morbidity and mortality. It is caused by mutations in the CTNS gene that encodes the cystine transporter, cystinosin, which leads to lysosomal cystine accumulation. It is the major cause of inherited Fanconi syndrome, and should be suspected in young children with failure to thrive and signs of renal proximal tubular damage. The diagnosis can be missed in infants, because not all signs of renal Fanconi syndrome are present during the first months of life. Elevated white blood cell cystine content is the cornerstone of the diagnosis. Since chitotriosidase (CHIT1 or chitinase-1) is mainly produced by activated macrophages both in normal and inflammator

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Publication Date
Mon May 09 2022
Journal Name
Biochemical And Cellular Archieve
INFLUENCE OF HUMAN LEUKOCYTE ANTIGEN HLA-DRB1 ON SUSCEPTIBILITY TO GIARDIA LAMBLIA INFECTION OF IRAQI PATIENTS
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Giardia lamblia is the worldwide most common intestinal protozoan parasite. It was indicated that Giardia is the most important agent that causes acute and chronic diarrhea in infants, young children and travelers. The aim was to detect the influence of host HLA alleles on the susceptibility to infection with G. lamblia in a sample of Iraqi patients. A total of (40) patients with giardiasis aged (14-39) years were registered. All of them were symptomatic and (40) healthy individuals matched age and sexes were included as controls. All patients were prepared to stool examination to detect G. lamblia and eliminated other pathogens, as well as human leukocyte antigen (HLA) class II alleles (DRB1) typing. The most common detected alleles in pat

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