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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 01 2018
Journal Name
Ecotoxicology And Environmental Safety
Biochemical and molecular alterations in freshwater mollusks as biomarkers for petroleum product, domestic heating oil
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Publication Date
Sat Jun 29 2024
Journal Name
Journal Of Humanities And Social Sciences Researches
Measuring and Analysis the Relationship between the Internal Public Debt and the Exchange Rate in the Iraqi Economy for The Period 2004 – 2022
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The scholastic view of public religion differed, and this difference was on two extremes. All economic schools agreed that public debt is a monetary liquidity that was unjustly deducted from the income and output cycle as a result of the imbalance in the economic balance and the departure from the conditions of balance between aggregate demand and aggregate supply. Debt is a waste of financial resources allocated to productive accumulation. Except for the Keynesian school, which considers public debt to be an addition to aggregate demand after the decline in the role of the private sector in investment as a result of pessimistic expectations that warn of signs of economic contraction. Public debt is linked to the ex

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Publication Date
Sat Jul 22 2023
Journal Name
Journal Of Engineering
Fatigue Analysis of Hip Prosthesis
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The present work covers the analytical design process of three dimensional (3-D) hip joint prosthesis with numerical fatigue stress analysis. The analytical generation equations describing the different stem constructive parts (ball, neck, tour, cone, lower ball) have been presented to reform the stem model in a mathematical feature. The generated surface has been introduced to FE solver (Ansys version 11) in order to simulate the induced dynamic stresses and investigate the effect of every design parameter (ball radius, angle of neck, radius of neck, neck ratio, main tour radius, and outer tour radius) on the max. equivalent stresses for hip prosthesis made from titanium alloy. The dynamic loading case has been studied to a stumbling ca

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Publication Date
Sun Dec 01 2013
Journal Name
Journal Of Economics And Administrative Sciences
Assess the Reality of the Process of Applying the strategic Innovation In Business organizations : A prospective Study of comparative analysis in anumber of business organizations the Iraqi Industrial
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Abstract :

      The research aims to Estimate the Strength of Strategic Innovation application in terms of application strength , and on the overall level in number of Iraqi Industrial business organizations . After wards determine whether their is differerences among those organizations in application process for the dimensions , and for the overall process .

      The Research revealed number of conclusions including that the process of strategic innovation is applied in a good Level , and demonstrates the desier of the industrial companies Leaders to Launch beyond the familiar products , and to provide new products that

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Publication Date
Wed Nov 08 2023
Journal Name
Technologies And Materials For Renewable Energy, Environment, And Sustainability: Tmrees23fr
Analysis of x-ray diffraction lines of cuprous oxide nanoparticles by using variance analysis method
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In this study, the results of x-ray diffraction methods were used to determine the Crystallite size and Lattice strain of Cu2O nanoparticles then to compare the results obtained by using variance analysis method, Scherrer method and Williamson-Hall method. The results of these methods of the same powder which is cuprous oxide, using equations during the determination the crystallite size and lattice strain, It was found that the results obtained the values of the crystallite size (28.302nm) and the lattice strain (0.03541) of the variance analysis method respectively and for the Williamson-Hall method were the results of the crystallite size (21.678nm) and lattice strain (0.00317) respectively, and Scherrer method which gives the value of c

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Publication Date
Thu Apr 03 2025
Journal Name
Journal Of Communicable Diseases
Biofilm Feast: Stringent Response-Induced Changes in MRSA and MSSA Isolates, Examining icaA/ icaD Gene Expression
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Introduction: The stringent response is a bacterial adaptation mechanism triggered by stress conditions, including nutrient limitation. This response helps bacteria survive under harsh conditions, such as those encountered during infection. A key feature of the stringent response is the synthesis of the alarmone (p)ppGpp, which influences various bacterial phenotypes. In several bacterial species, stringent response activation significantly affects biofilm formation and maintenance. Methods: Clinical specimens were collected from multiple hospitals in Baghdad, Iraq. Staphylococcus aureus was identified using conventional biochemical tests. The PCR technique was applied to detect mecA, icaA, and icaD genes, while the Vitek 2 compac

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Publication Date
Mon Mar 29 2021
Journal Name
Journal Of Engineering
Effluent quality assessment of sewage treatment plant using principal component analysis and cluster analysis
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Sewage water is a mixture of water and solids added to water for various uses, so it needs to be treated to meet local or global standards for environmentally friendly waste production. The present study aimed to analyze the new Maaymyrh sewage treatment plant's quality parameters statistically at Hilla city. The plant is designed to serve 500,000 populations, and it is operating on a biological treatment method (Activated Sludge Process) with an average wastewater inflow of 107,000m3/day. Wastewater data were collected daily by the Mayoralty of Hilla from November 2019 to June 2020 from the influent and effluent in the (STP) new in Maaymyrh for five water quality standards, such as (BOD5), (COD), (TSS), (TP)

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Publication Date
Wed Mar 23 2022
Journal Name
Journal Of Educational And Psychological Researches
Introspective Awareness among College Students
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The current study aims to identify the introspective awareness of the study sample, as well as to identify the introspective awareness of the study sample in terms of gender. The researcher adopted the viewpoint of Mehling (2002) as a theoretical framework for Introspective awareness. A sample of (239) male students and (331) female students were chosen randomly from two universities (Baghdad University and Al- Mustansiriyah University). To achieve the objectives of the research, the researcher adopted a vulgar scale (Mehling, 2012), which in its final form consisted of (32) items distributed into eight domains. As for the reliability coefficient of the scale, it reached (0.896) in the Cronbach alpha equation. The study revealed that the

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Publication Date
Wed Oct 18 2023
Journal Name
Iraqi National Journal Of Nursing Specialties
Job Satisfaction among Nursing Staff
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Objectives: The specific objectives of the present study were to assess the level of job satisfaction among
nursing staff who are working in the Ministry of Health and Ministry of Higher Education and Scientific
Research in the provinces of Erbil, Mosul and Kirkuk to determine the factors that affect their satisfaction.
Methodology:٨
descriptive design was carried-out from September 20, 2006 through April 1,'؛ 2007 in order
to assess the job satisfaction for nursing staff in governmental health agencies and educational setting.
Quantitative research methods were utilized to employ the study design. The study was conducted on three Iraqi
governorates (Mosul, Kirkuk, and Erbil). The sample of the study was collected

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Publication Date
Sun Apr 03 2016
Journal Name
Journal Of Educational And Psychological Researches
KINDNESS AMONG FEMALE UNIVERSITY STUDENTS
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The research aims at constructing a Scale of Kindness phenomenon among university female students and elicit criteria to it, It also recognizes the differences in kindness levels among female students according to variables (specialization, academic grade, social status, and the age). The sample consists of 534 female students who were selected randomly. The two researchers rely on experience and the results of questionnaire, The questionnaire is given to 130 female university students from different colleges as well as their acquaintance with literary works witch dealt with kindness , The scale consists of 39 items , It has psychometric characteristics (Validity and Reliability) . The criterion (Z) is extracted from it and throu

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