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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
Wed Aug 30 2023
Journal Name
Iraqi Journal Of Science
Evaluation of Gene Expression Level of miRNA-29c, miRNA-125, miRNA-141, miRNA-145 and miRNA-205 as Predisposing Factors for Transitional Cell Carcinoma-Bladder Cancer in Iraqi Patients
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     MicroRNAs (miRNAs) are small non-coding RNAs that regulate gene expression post-transcriptionally. Transitional cell carcinoma(TCC) of the bladder Cancer (C) account 95 percent of bladder malignancies, with males having a greater prevalence than females. The current study sought to determine whether there is a link between miRNA-29c, miRNA-125, miRNA-141, miRNA-145 and miRNA205 expression levels and TCC/BC risk in Iraqi bladder cancer patients. In the current prospective cross-sectional investigation, 149 samples were collected (95 urine and 54 tissue biopsies). From November 2018 to August 2019, 37/95 urine samples were randomly taken from healthy persons. Total RNA was extracted from tissue and urine samples, and then converte

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Publication Date
Sat Jan 17 2015
Journal Name
Iraqi Journal Of Science
Dissemination of Carbapenem resistant Pseudomonas aeruginosa among burn patients in Karbala Province\IraqDissemination of Carbapenem resistant Pseudomonas aeruginosa among burn patients in Karbala Province\Iraq
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In this study, 158 clinical samples were collected from hospitalized burn patients during the period from December 2012 to June 2013 in Karbala province\ Iraq. Bacterial isolates were identified using conventional biochemical tests and then identification was confirmed by using Vitek-2 compact system. Pseudomonas aeruginosa recovery was 60 isolates in this study. These isolates were analyzed for antibiotic susceptibility by the disk diffusion test (DDT) according to Kirby Bauer's method using seven clinically important antipseudomonal agents: carbapenems (Imipenem and Meropenem), pencillins (Piperacillin), cephalosporins (Ceftazidim), monobactam (Aztreonam), quinolones (Ciprofloxacin) and aminoglycosides (Gentamicin). The results of resista

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Publication Date
Thu Jan 09 2020
Journal Name
Plant Archives
Molecular Study of Two Fungi Millerozyma Farinosa and Candida Orthopsilosis by PCR Using Its Gene and Phylogenetic Structuring Tree Isolated from Diabetic Patient in Baghdad
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Diabetic mellitus is one of the main risk factors of fungal infections because poor glycemic control is associated with a high level of glucose in blood and saliva which could be treated as nutrient to fungi. This study aimed to isolate and identification of pathogenic fungi from diabetic patient. 140 samples were taken from different places of human body from the national center of diabetic patients that related to Mustansiriyah University / college of medicine and Al-yarmuk Hospital in Baghdad. 84 sample (60%) tested positive to fungi and 56 sample (40%) tested negative to fungi. The most frequented fungi isolated have been chosen for molecular identification by PCR (Millerozyma farinosa and Candida orthopsilosis) using specific pri

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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
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
Fri Nov 08 2024
Journal Name
International Journal Of Language Testing
Validation of C-Test among Iraqi EFL University Students
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Publication Date
Fri Jan 01 2021
Journal Name
International Journal Of Agricultural And Statistical Sciences
STATISTICAL ANALYSIS OF PATIENTS INFECTED WITH CORONAVIRUS USING MANOVA
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Publication Date
Fri Feb 07 2025
Journal Name
Journal Of Baghdad College Of Dentistry
Vertical analysis of patients with late lower arch crowding
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Background: Because of many factors play a role in the developing of late lower arch crowding, therefore the objective of the current study is to do vertical analysis for subjects with late lower dental arch crowding. The conducted study is the first attempt to do vertical analysis for Iraqi subjects with late lower arch crowding to see if there is a vertical discrepancy in such patients. Subjects and methods: Eighty subjects were selected according to certain inclusion criteria from patients attending the Orthodontic Department in the College of Dentistry, Baghdad University, patients ranged between 18-25 years old. The 80 patients were divided into two groups (crowding and normal), 40 patients each (20 males and 20 females). A study cast

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Publication Date
Tue Jan 30 2024
Journal Name
Iraqi Journal Of Science
Association of PARP1 Gene Single Nucleotide Polymorphisms with Papillary Thyroid Carcinoma in The Iraqi population
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     Thyroid carcinoma incidence is increasing year after year and ranking second among top ten cancers in Iraq, especially among women, and this increased the requirement for the improvement of the molecular detection accuracy because of its potential role in the early detection. Two single nucleotide polymorphisms (rs1136410, A>G and rs1805414, A>G) in PARP1 gene were found to be associated with thyroid carcinoma risk in several genome wide association studies, therefore, this is a case-control study that was carried out to identify whether these polym

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