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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 Jun 07 2024
Journal Name
Medicine
Impact of TYMS gene polymorphism on the outcome of methotrexate treatment in a sample of Iraqi rheumatoid arthritis patients – identification of novel single nucleotide polymorphism: Cross-sectional study
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The current work aims to evaluate the association between genetic mutations in thymidylate synthetase (TYMS gene in exon1 and partial regions of promotor and intron 1 [877 bp, 657,220–658,096 bp]) and the therapeutic outcomes for rheumatoid arthritis (RA) Iraqi patients. An observational cross-sectional study involving 95 RA patients with established RA patients based on their methotrexate treatment responsiveness. Genetic sequencing of the TYMS gene was performed for all patients according to the instruction manuals of the sequencing company (Macrogen Inc. Geumchen, South Korea). Four polymorphisms were identified by sequencing 95 randomly selected patients in the noncoding region of TYMS

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Publication Date
Sat May 31 2025
Journal Name
Journal Of Baghdad College Of Dentistry
Immunohistochemical expression of Cyclin D1 in mucoepidermoid and adenoid cystic carcinoma of the salivary glands
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Background: Cyclin D1 proto-oncogene is an important regulator of (G1 to S) phase progression in many different cell types. The Aims of this study were to evaluate the immunohistochemical expression of Cyclin D1 in mucoepidermoid and adenoid cystic carcinoma of the salivary glands and to correlate the immunoexpression of this protein with the clinicopathological findings. Materials and methods Retrospectively, twelve of archival formalin fixed paraffin embedded tissue samples of salivary Mucoepidermoid and fourteen blocks of adenoid cystic carcinomas obtained from the archives of the department of oral pathology / college of dentistry / Baghdad university, Al-Shaheed Ghazi hospital, were included in this study. Five micrometer sections o

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Publication Date
Mon Jan 01 2024
Journal Name
Wiadomości Lekarskie
Chemo-sensory loss and FUT2 gene in COVID-19 infected Iraqi dentists
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Aim: To find any association between specific ABO blood groups and FUT2 secretory status and COVID-19 in a sample of Iraqi dentists. Materials and Methods: For each participant, a questionnaire including demography, COVID-19 status, blood grouping, and RH factor, with chemo-sensitive symptoms was recorded. The saliva samples were collected and DNA was extracted from leukocytes. Sequencing of molecular detection of the FUT2 gene by real-time PCR and the data was done, whilst drawing the phylogenetic tree. Results: Out of 133, most of the dentists were female 61%, most were just under 35 years of age. The most participants in this study were predominantly with blood group O (40%), followed by B, A, and AB, with (90%) of them were RH+.

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Publication Date
Thu Mar 03 2022
Journal Name
Archives Of Rheumatology
Association of tumor necrosis factor-alpha promoter region gene polymorphism at positions -308G/A, -857C/T, and -863C/A with etanercept response in Iraqi rheumatoid arthritis patients
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Objectives: This study aims to evaluate the association between polymorphisms in the promoter region of the tumor necrosis factor-alpha (TNF-α) gene at locations -308G/A, -857C/T, and -863C/A with the tendency of being non-responder to etanercept.

Patients and methods: Between October 2020 and August 2021, a total of 80 patients (10 males, 70 females; mean age: 50 years; range, 30 to 72 years) with rheumatoid arthritis (RA) receiving etanercept for at least six months were included. The patients were divided into two groups responders and non-responders, based on their response after six months of continuous treatment. Following polymerase chain reac

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Publication Date
Wed Mar 10 2021
Journal Name
Baghdad Science Journal
incidence of vulvovaginal candidiasis among iraqi women
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this worl was carried oit on 50 woman they were attended to the gynecological out patinetand non albicans vared among age group

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Publication Date
Mon Jun 26 2023
Journal Name
Journal Of Contemporary Medical Sciences
Molecular detection of mononucleotide biomarkers of microsatellite instability in sporadic colorectal carcinoma patients with clinicopathological correlation
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Objectives: To identify the frequency and types of microsatellite instability among a group of sporadic CRC patients and to correlate the findings with clinicopathological characteristics. Methods: During an 8-month period, all patients with sporadic CRC who attended to two teaching hospitals in Baghdad, Iraq were recruited to this cross-sectional study regardless of age, sex, ethnicity, or tumor characteristics. Demographic, clinical, and histopathological features were recorded. DNA was extracted from FFPE-blocks of the resected tumors and normal tissues. PCR amplification of five microsatellite mononucleotide repeat loci (BAT25, BAT26, NR-21, NR-24, and MONO-27) and 2 pentanucleotide repeat control markers (Penta C and Pent

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Publication Date
Thu Jun 01 2023
Journal Name
Neurology Asia
Integrin alpha-4 gene polymorphism in relation to natalizumab response in multiple sclerosis patients
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Objectives: The aim of this study was to assess the possible the association between +3061 (G>A, rs1143676) missense mutation in exon 24 of the integrin α-4 subunit (ITGA-4) gene and the response to natalizumab in a sample of Iraqi multiple sclerosis patients. Methods: A sample of 59 patients with multiple sclerosis (16 males and 43 females; mean age of 32 years; age range of 15 to 52 years) receiving natalizumab for at least 12 consecutive months were involved in the study between March and August/ 2022. The sample was categorized into two groups according to their response to natalizumab treatment (responders and non-responders). Polymerase chain reaction and Sanger’s sequencing for the extracted deoxyribonucleic acid was pe

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Publication Date
Mon Jun 03 2024
Journal Name
Journal Of Pioneering Medical Science
Prevalence of Diabetic Hyperglycemia Among Patients With Rheumatoid Arthritis
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Introduction: Rheumatoid arthritis (RA) is one of the most prevalent systemic inflammatory diseases worldwide. Cardiac complications present the most common mortality cause among RA patients. One of the most important comorbid conditions with RA is diabetic hyperglycemia mainly type 2 diabetes mellitus (T2DM). Aim of the study: The present study was conducted to assess prevalence of T2DM among patients diagnosed with RA from Iraq. Methodology: We included a randomly selected 100 rheumatoid arthritis. All included patients were subjected to anthropometric measurements, diabetic profile assessment and ESR, CRP and rheumatoid factor measurement. Results: Among the included RA patients, 28 patients were diagnosed with new-onset DM. Our

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Publication Date
Sun Aug 01 2021
Journal Name
International Journal Of Agricultural And Statistical Sciences
STATISTICAL ANALYSIS OF PATIENTS INFECTED WITHCORONAVIRUS USING MANOVA
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Statistics has an important role in studying the characteristics of diverse societies. By using statistical methods, the researcher can make appropriate decisions to reject or accept statistical hypotheses. In this paper, the statistical analysis of the data of variables related to patients infected with the Coronavirus was conducted through the method of multivariate analysis of variance (MANOVA) and the statement of the effect of these variables.

Publication Date
Sat Feb 02 2019
Journal Name
Journal Of The College Of Education For Women
Linguistic Analysis as Mean of Soliciting Patients concerns
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