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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
Mon Jan 01 2018
Journal Name
Current Research In Microbiology And Biotechnology
Detection of some Physiological and Immunological parameters in Iraqi clinical and subclinical hypothyroid patients: Relationship study
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The present study was performed to evaluate the level of some risk factors (biochemical and immunological) in hypothyroid Iraqi patients considering the different thyroid functional states (hypothyroidism and subclinical hypothyroidism).The study includes 82 patients clinically diagnosed with hypothyroidism. Three study groups have been investigated: (47 clinical hypothyroid patients, 12 subclinical hypothyroid patients 23 healthy individuals) of different ages. This study, show that the proportion of females (83.3 %), (87.2%) in subclinical and clinical hypothyroidisim respectively higher than the proportion of males (16.7%),(12.8%) in subclinical and clinical hypothyrodism respectively of the total patients.The majority of subclinical hyp

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Publication Date
Tue Sep 26 2017
Journal Name
The Gulf Journal Of Oncology
Effects of cranberry-PACs against urinary problems associated with radiotherapy in iraqi patients with bladder carcinoma
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Publication Date
Wed Aug 30 2023
Journal Name
Baghdad Science Journal
Studying the Effect of COVID-19 on Liver Enzymes and Lipid Profile in Iraqi Recovering Patients
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  The Covid-19 virus disease has been shown to affect numerous organs and systems including the liver. The study aimed to compare lipid profiles and liver enzyme levels in individuals who had recovered from Covid-19 infection. To achieve the study objectives, liver Aspartate Aminotransferase (AST), Alanine Aminotransferase (ALT), Alkaline phosphatase (ALP),  Random Blood Sugar (RBS) and Lipid profile which include cholesterol, High-Density Lipoprotein (HDL), Triglycerides (T.G), Low-Density Lipoprotein (LDL), and Very low-density Lipoprotein (VLDL) were determined.

One hundred twenty serum samples were obtained, of which fifty samples were utilized as the control healthy persons (not affected by COVID) and seventy samples came f

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Publication Date
Mon Apr 04 2022
Journal Name
Neuroquantology
The Role of Adropin as a Novel Biomarker in Iraqi Patients with Parkinson's Disease and Osteoporosis
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Publication Date
Mon Aug 01 2022
Journal Name
Hiv Nursing
The Influence of Some Vitamins and Biochemical Parameters on Iraqi Females’ Patients with Malignant Breast Cancer"
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The Influence of Some Vitamins and Biochemical Parameters on Iraqi Females’ Patients with Malignant Breast Cancer"

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Publication Date
Thu Aug 14 2025
Journal Name
International Journal Of Latest Technology In Engineering, Management & Applied Science (ijltemas)
Temporal Trend of Congenital Heart Diseases in Iraqi Patients: An Analytic Study from Two Cardiac Institutions
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Publication Date
Fri May 07 2021
Journal Name
Pharmacy Practice
Measuring depression and anxiety prevalence among Iraqi healthcare college students using hospital anxiety and depression scale
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Objective: The study aimed to 1) measure the prevalence of depression and anxiety among Iraqi pharmacy and medical students at a number of universities in Baghdad using Hospital Anxiety and Depression Scale (HADS) and 2) investigate the association between various sociodemographic factors and students’ HADS scores. Methods: This study was based on a cross-sectional descriptive design in four universities in Baghdad, Iraq. Depression and anxiety were screened using an Arabic version of the HADS. An online survey was administered via Qualtrics to convenience samples of students at four colleges of pharmacy and a college of medicine between March and June 2018. Multiple linear regression was used to identify factors associated

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Publication Date
Wed Oct 01 2025
Journal Name
Al–bahith Al–a'alami
Satellite TV sites among the Iraqi public's sources about the demonstrations Field study in Baghdad 2020
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This research is based on the idea of showing the extent to which the public relies on satellite channels as sources for news of the demonstrations in Iraq .This was the essence of the problem for which the researcher set several goals, including knowing the public’s confidence in the news of these satellite channels and comparing them with others. The researcher chose an available intended sample of (117) respondents in Baghdad - Karkh and Rusafa by adopting the survey method and applying a questionnaire form and the theory of media dependence for the period from 15/11/2019 to 1/1/2021 . By using statistical methods, the researcher reached many results, the most important of which are: Satellite channels are a source for 79% of the pu

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Publication Date
Sat Jun 06 2020
Journal Name
International Journal Of Psychosocial Rehabilitation
Job Enrichment and Its Influence in Organizational Cynicism among Workers in Iraqi Youth and Sport Forums
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This study aims to (1) identify the level of job enrichment and organizational cynicism among workers in some youth and sport forums, and (2) identify the influence the job enrichment in the organizational cynicism from their perspective. A descriptive survey was used to guide this study. The study included 478 workers who were randomly selected from the youth and sport forums in Baghdad City in 2019. The Job Enrichment Scale and the Organizational Cynicism Scale were used. Data were analyzed using the statistical package for social science, version 26. The study results revealed that the level of job enrichment and organizational cynicism among workers were unsatisfactory. This calls for paying more attention to these phenomena and improve

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Publication Date
Sun Jun 07 2015
Journal Name
Baghdad Science Journal
Optimization of Glutathione S-Transferase in the Sera of Young Female Iraqi Patients with Diabetes Mellitus Type1
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This study was attempted to determine optimum conditions, for Glutathione s-Transferase enzyme, in sera of three groups diabetic patients type1 depending on duration of disease without complications compared with control group. The aim of this study was to find optimum conditions were determined such as (pH, Substrate Concentration, Temperature, Incubation time, Enzyme concentration, and effect of(0.15M)(0.25M) of mono divalent compounds). And to find the kinetics parameters in the three groups of diabetic patients when compared with control. It was found optimum pH(8.5,4.5,2.5,6.5).Temperatures(20cº,40cº,50cº,30cº). Incubation times (7min, 4min, 4min, 5min) substrate concentrations (12µl, 10µl, 5µl, 10µl) enzyme concentra

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