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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 Oct 08 2025
Journal Name
Journal Of Physical Education
A comparative analysis , for some Elkinmetekih variables , in the performance of the skill (Nick shot the front reverse ) , between the players of the Iraqi team and the Egyptian , for young people in squash
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Publication Date
Mon Jan 01 2024
Journal Name
Pakistan Journal Of Life And Social Sciences (pjlss)
Awareness of Patients Toward Warning Signs of Heart Attacks
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Publication Date
Fri Jul 28 2023
Journal Name
The Journal Of Physical Chemistry A
Tubular Magnetic Shielding Scan (TMSS): A New Technique for Molecular Space Exploration. (i) The Case of Aromaticity of Benzene and [<i>n</i>]Paracyclophanes
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Both traditional and novel techniques were employed in this work for magnetic shielding evaluation to shed new light on the magnetic and aromaticity properties of benzene and 12 [n]paracyclophanes with n = 3–14. Density functional theory (DFT) with the B3LYP functional and all-electron Jorge-ATZP and x2c-TZVPPall-s basis sets was utilized for geometry optimization and magnetic shielding calculations, respectively. Additionally, the 6-311+G(d,p) basis set was incorporated for the purpose of comparing the magnetic shielding results. In addition to traditional evaluations such as NICS/NICSzz-Scan, and 2D-3D σiso(r)/σzz(r) maps, two new techniques were implemented: bendable grids (BGs) and cylindrical grids (CGs) of ghost atoms (Bqs). BGs a

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Publication Date
Thu Oct 01 2020
Journal Name
Biochemical & Cellular Archives
THE STUDY ON ABILITY OF ESCHERICHIA COLI ISOLATED FROM DIFFERENT CLINICAL CASES TO BIOFILM FORMATION AND DETECTION OF CSGD GENE RESPONSIBLE FOR PRODUCE CURLI (FIMBRIAE)
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A total of 165 clinical sample included Urine, Swab wounds and Burns were collected from Baghdad Governorate. Results showed that rate all isolates of E. coli was 50(30.3%) and rate of urine infection was 46(92%) and rate of swab wounds infection 4(8%). Where was diagnostic based on streaked on MacConkey agar, then single colony was transferred to Eosin Methylene Blue (EMB). Identification some of the biochemical test included: Catalase test, Oxidase test, Indole test, Methyl red, Vogues - Proskauer test and Citrate Utilization test. Then confirmed by the Vitek - 2 Compact System. The ability of E.coli isolate to biofilm formation to be studied it is considered one of the most important factors of virulence and has role in causing injury an

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Publication Date
Tue Dec 11 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
Detection of Hypertension among Cardiac Diseases Inpatients at Kirkuk City Hospitals
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Objectives of the study: The main objective of the study is to assess the prevalence of hypertension among
cardiac diseases patients and to fiend out relation ship between hypertension and cardiovascular diseases.
Methodology: A descriptive study, using interviewer and questionnaire technique was conducted on cardiac
diseases inpatients of clinic unite at Kirkuk and Azady hospitals from 17th ,June ,2012 to 1st, March , 2013.
Non – probability (purposive) sample of (148) adult patients, (81) females and (67) males with heart disease are
selected from inpatients of clinic unite at Kirkuk and Azady hospitals at kirkuk city. Questionnaire was
developed to assess the items which are related to heart disease patient's (Dise

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Publication Date
Fri Jul 01 2022
Journal Name
The Egyptian Journal Of Hospital Medicine
Evaluation of Adipokines Among Children Infected with Some Protozoan Intestinal Parasites
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Publication Date
Sun Oct 07 2012
Journal Name
Journal Of Educational And Psychological Researches
Job Satisfaction Among Faculty Members At The University Of Irbid College
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This study measured and analyzed job satisfaction among faculty members at the university of Irbid College in relation to gender social status, years of experience, academic rank , qualification, the population consisted of 110 full-time Jordanian factually members. A total of 72. (61%) factually, members participated in this study. The research instrument which was developed by the researcher consisted of tow parts: personal information and the job Satisfaction Questionnaire Frequencies, percentages, means and one-way analyses of variance were employed to analyze the data. The level of significance was set at 0.05. A Secheffe method of multiple comparisons was used for follow-up investigation.      

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Publication Date
Thu Jan 30 2014
Journal Name
Al-kindy College Medical Journal
Job Satisfaction among Group of Nurses in General-Hospitals - Erbil City
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backround: job satisfaction greatly determines the productivity and efficiency of human resorces for health job satisfaction in said to be linked with employees work environment 

job resposibilties and time pressure among various health professionals

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Publication Date
Tue Nov 01 2022
Journal Name
Saudi Medical Journal
The prevalence of metabolic syndrome among university students in Wasit, Iraq
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Publication Date
Fri Nov 09 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
Prevalence of obesity among adolescents at secondary schools in Kirkuk city
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Objective: to identify the secondary school adolescent's obesity, and to find out the relationship between
adolescents obesity characteristics and their family history.
Methodology: A cross-sectional study was carried out among 537 adolescents (270 boys and 267 girls) aged 12-15
years selected by means of a multistage stratified random sampling technique.
Results: the prevalence of obesity among adolescents was 22.3%. (55.8%) of the obese adolescents were male,
(42.5%) their age is (13) years old, and (79.2%) of them coming from middle level of socio economic status score.
There are a significant relationship between obese adolescents and their family history of obesity which indicated
that obese father, and obese br

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