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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
Tue Nov 01 2011
Journal Name
Journal
Frequency of autoimmune diseases and estimation of P53 among vitiligo patients
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KE Sharquie, AA Noaimi, SY Mohsin, 2011 - Cited by 4

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Publication Date
Fri Dec 23 2022
Journal Name
F1000research
Association between polymorphisms within the gene coding for tumor necrosis factor (TNF)-alpha with outcomes of treatment in a sample of Iraqi patients with ankylosing spondylitis taking etanercept: an observational study
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Background:Ankylosing spondylitis (AS) is a progressive, chronic inflammatory illness with an unclear etiology that explicitly targets the vertebral column, peripheral joints, and extraarticular tissues. The purpose of this research was to investigate if the existence of single nucleotide polymorphisms (SNPs) in the promoter region of the tumor necrosis factor-alpha (TNF-α) gene at positions -1031T/C (rs199964), -857C/T (rs1799724) and -806C/T (rs4248158) in a sample of Iraqi AS patients could influence the patients' outcomes with etanercept.

Methods:Sixty patients with established AS receiving only etanercept were selected to enroll in this study, with a mean age of 40.75±8.6

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Publication Date
Fri Aug 06 2021
Journal Name
Research Journal Of Pharmacy And Technology
Molecular Detection and Genotyping of Human Herpes Virus 8 in a sample of Iraqi Blood Donors
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Human herpes virus-8 (HHV-8) infection has increased recently in Arabic countries. HHV-8 in healthy persons does not necessarily cause life-threatening infection, and however, it causes a more severe infection among immunocompromised patients. The distribution of HHV-8 genotypes varies according to ethnicity and depends on the geographic region prior rapid development of global travel. A cross sectional prospective study included a hundred healthy blood donor samples with a mean age of (36.60±10.381), 81% were positive for molecular detection of HHV-8 DNA. PCR results for HHV-8 were strongly related with risk factors such as the number of sexual relations, previous surgeries, blood transfusion, dental operation, and the number of b

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Publication Date
Mon Jun 30 2014
Journal Name
Iraqi Journal Of Chemical And Petroleum Engineering
Research Octane Number Improvement of Iraqi Gasoline by Adsorption of n-Paraffins Using Zeolite Molecular Sieves
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This study focused on the improvement of the quality of gasoline and enhancing its octane number by the reduction of n-paraffins using zeolite 5A. This study was made using batch and continuous mode. The parameters which affected the n-paraffin removal efficiency for each mode were studied. Temperature (30 and 40 ˚C) and mixing time up to 120 min for different amounts of zeolite ranging (10-60 g) were investigated in a batch mode. A maximum removal efficiency of 64% was obtained using 60 g of zeolite at 30 ˚C after a mixing time 120 min. The effect of feed flow rate (0.3-0.8 l/hr) and bed height (10-20 cm) were also studied in a continuous mode. The equilibrium isotherm study was made using different amounts of zeolite (2-20 g) and the

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Publication Date
Tue Sep 08 2020
Journal Name
Baghdad Science Journal
Silver Nanoparticles and their Role in Gene Expression of Motility Gene motB and Repression of AI-2-Controlled Gene
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Antibiotic resistance is the capability of the strains to resist or protect themselves from the effects of an antibiotic. Such a resistance towards the current antimicrobials leads to the search of novel antimicrobials. Nanotechnology has been promising in different field of science and among it is the use of nanoparticles as antibacterial agents. The gastrointestinal tract seems to be the primary reservoir of uropathogenic E.coli (UPEC) in humans. UPEC strains harbour the urinary tract and cause urinary tract infection. They cause serious ailments in terms of humans. They develop resistance and increase their virulence by forming biofilms. They also show a remarkable locomotory movement with the aid of autoinducer controlled ge

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Publication Date
Sat Nov 01 2014
Journal Name
Journal Of Cosmetics, Dermatological Sciences And Applications
Kerosene-induced panniculitis in Iraqi patients
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KE Sharquie, AA Noaimi, MS Younis, BS Al-Sultani, Journal of Cosmetics, Dermatological Sciences and Applications, 2014 - Cited by 5

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Publication Date
Sat Nov 03 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
Assessment Types of Domestic Violence Among Iraqi Pregnant Women
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Objective : A descriptive analytical study was conducted on pregnant women who face domestic
violence and receive antenatal services from obstetric wards ikou^V Ctemal ^4M^vrAd\vQ^Ms> "&
Baghdad city, to identify the types of domestic violence on pregnant woman.
Methodology : A purposive sample of one hundred pregnant women with domestic violence was
selected. Data were collected through questionnaire, the period extended from the 20th Feb to the 3rd
May 2006. Descriptive and inferential statistical procedures were used to analyze the data.
Results : The result of the study showed that the highest percentage (26%) of the study sample their
age ranges from (30 - 34) years, most of them were housewife with low s

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Publication Date
Mon Dec 14 2020
Journal Name
The Fourth International Conference Of Linguistic Studies
A pragmatic study of refusals among Iraqi EFL learners
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The speech act of refusals has been studied widely either alone or in relation to such areas as apology, requests, promotion, and invitation. The present study aims to investigate the strategies employed by Iraqi females in refusing marriage proposals. It attempts to explore their preferences to respond directly or indirectly in relation to their ages and educational background of the parents. The sample of the study consists of 25 participants; they are learners of English as a foreign language (EFL) at the College of Education for Women/ University of Baghdad. The data are collected by using a discourse completion task (DCT) followed by a follow up interview. The researchers used a Google form shared via emails to get responses from the p

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Publication Date
Sat Jan 09 2021
Journal Name
Medico Legal Update
Knowledge and Attitudes of Vaccination among Iraqi Pharmacy Students
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Objective: Since the vaccination rate is largely affected by low knowledge and negative attitudes ofhealthcare professionals, so this study aimed to weigh up the vaccination knowledge and attitudes ofpharmacy students.Method: A pilot study using a survey to investigate demographic data, knowledge (20 questions), andattitudes (5 questions) of 156 fifth year and 121 third year pharmacy students from College of Pharmacy/University of Baghdad.Results: The mean score of knowledge and attitudes was intermediate (16.654 and 14.917 out of 25 for thefifth and the third grades, respectively) with a significant difference between the two groups, the studentsshown to have favorable attitudes about vaccination. The score of the students is not i

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Publication Date
Fri Nov 08 2024
Journal Name
International Journal Of Language Testing
Validation of C-Test among Iraqi EFL University Students
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