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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 Dec 29 2020
Journal Name
Journal Of Accounting And Financial Studies ( Jafs )
The impact of the activities of the national poverty reduction strategy On achieving the sustainable development goals An applied research in the Ministry of Labor and Social Affairs
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The objective of the research is to shed light on the nature of the impact of the activities of the national strategy for poverty alleviation in achieving the goals of sustainable development, and the research problem was represented by Is there an effect of the activities of the national strategy for poverty reduction in achieving the goals of sustainable development? and represents the field of research in the Ministry of Labor and Social Affairs For the years (2012-2016) and the results of the sustainable development goals indicators for the years (2012-2016), the ready-made statistical program (SPSS ver.10) was used to calculate the percentages, multiple linear regression equation, the F test and the R2 coefficient, and the research

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Publication Date
Sun Dec 01 2019
Journal Name
Journal Of Accounting And Financial Studies ( Jafs )
The role of monetary policy in the aggregate indicator of banking stability in Iraq: An applied research in the Central Bank of Iraq for the period (2010 - 2017)
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The research sought to demonstrate the effectiveness of monetary policy in banking stability by measuring the impact of monetary policy in the composite index of banking stability in Iraq for the period 2010/2017, as the stability of the financial system is one of the main objectives that the Central Bank is keen to achieve along with other objectives to ensure the performance Effective for all economic units, this is what prompted the central banks to give more attention in ensuring the safety, durability and stability of their financial systems, and the increasing interest by the Central Bank of Iraq in the subject of financial stability stems from its responsibility in ensuring a sound and stable financial system. Maintain it and mini

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Publication Date
Wed Dec 25 2019
Journal Name
Separation Science And Technology
Green synthesis of graphene-coated sand (GCS) using low-grade dates for evaluation and modeling of the pH-dependent permeable barrier for remediation of groundwater contaminated with copper
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Publication Date
Wed May 01 2024
Journal Name
Journal Of Ecological Engineering
Explore the Impact of Surfactant Type on the Stability and Separation Efficiency of Oil–Water Emulsions of Real Wastewater from Al-Basrah Crude Oil Using Microbubble Air Flotation
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Among several separation processes, the air flotation distinguish as remarkably high potential separation process related to its high separation efficiency and throughput, energy-efficient, simple process, cost-effective, applicable to a wide range of oily wastewater and no by-products. The current study aimed to investigate the effect of the type and concentration of surfactant on the stability of oil-water emulsion and efficiency of the separation process. For this purpose, three types of surfactant where used (anionic SDS, mixed nonionic Span 85/Tween 80, and cationic CTAB). The results demonstrated that the Span 85/Tween 80 surfactant has the best stability, and it increases with the surfactant concentration augmentation. The removal ef

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Publication Date
Sun Jun 27 2021
Journal Name
Iraqi National Journal Of Nursing Specialties
Evaluation of Quality of Nursing Care Services Provided to Children under Five Years Based on Integrated Management of Child Health at Primary Health Care Centers in Baquba City
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Objective(s): The study aims to evaluating the quality of nursing care provided to children under five years to compare between quality related to type of health sectors; to determine the quality of nursing care and to compare between such care in Baquba Health Care Sector I and II.

Methodology: A descriptive study is carried out for the period from December 15th 2019 to May 1st 2020. A purposive "non- probability" sample, of (60) staff nurse and (60) children is selected. An adopted questionnaire has been selected for the study which consists of three parts. The first part is nurses’ socio-demographic characteristic; the second part is ch

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Publication Date
Fri Aug 15 2025
Journal Name
Enterpreneurship Journal For Finance And Business
The role of psychological ownerships&#39; dimensions in deterring the effects of toxic leadership: Analytical research in some companies at the Ministry of Industry and Minerals in Iraq
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Publication Date
Fri Aug 15 2025
Journal Name
Journal Of Baghdad College Of Dentistry
Effects of three different types of intracoronal bleaching agents on shear bond strength of stainless steel and sapphire brackets bonded to endodontically treated teeth (An in vitro study)
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Background: evaluate the effects of three different intracoronal bleaching agents on the shear bond strengths (SBS) and failure site of stainless steel and monocrystalline (sapphire) orthodontic brackets bonded to endodontically treated teeth using light cured orthodontic adhesive in vitro. Materials and methods: Eighty extracted sound human upper first premolars were selected, endondontically treated and randomly divided equally (according to the type of the brackets used) into two main groups (n = 40 per group). Each main group were subdivided (according to the bleaching agent used) into four subgroups 10 teeth each; as following : control (un bleached) group, hydrogen peroxide group (Hp) 35%, carbamide peroxide group (CP) 37% group and s

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Publication Date
Sat Feb 01 2014
Journal Name
Journal Of Economics And Administrative Sciences
Strategic Human Resource Management Practices and their reflections for Organizational Performance Improvement A Survey Study of the views of a sample of Managers Baghdad Soft Drinks company/ Zafaraniya
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The aims of research is to identify the role of strategic human resource management Practices in organizational performance improvement in the Baghdad soft drinks company, as well as the implications of the results for both managers and practitioners.

In order to achieve the objectives of the research, the researcher designed questionnaire included (40) items to collect the initial data from the research sample consisting of (53) Single. In light of that has been collecting and analyzing data and test hypotheses using the statistical package for Social Sciences (SPSS21), and use a number of statistical methods to achieve the goal of the research, including the means, standard deviations and simple correla

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Publication Date
Thu Mar 20 2025
Journal Name
Tikrit Journal Of Engineering Sciences
Effect of Different Compressor Speeds on the Energy and Exergy of an Automobile Air-Conditioner Using R134a in the Absence and Presence of a Liquid-Suction Heat Exchanger
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Refrigerant R134a has been widely utilized in automotive air conditioning systems (AACSs); R134a has a high global warming potential (GWP) of 1430 despite having zero ozone depletion potential (ODP). Coming refrigeration systems must include refrigerants with low GWP and zero ODP. The aim of this experimental study is to evaluate the thermal performance of an (AAC) with different values of compressor speeds, i.e., (1000, 1700, and 2400 rpm) and two thermal loads, i.e., (500 and 1000 Watt) with the absence and presence of liquid suction heat exchanger (LSHX) using R134a. The results showed that adding LSHX enhanced the COP cycle by 7.18%, 10.7%, and 3.09% for the first, second, and third speed, respectively, at 500 Watt, while the en

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Publication Date
Sun Jun 04 2017
Journal Name
Baghdad Science Journal
The Effect of Variety and Gibberellic acid and Brassinolide and their Interaction on Some of The Chemical Characteristics and Total chlorophyll of the plant Dill Anethum graveolens L.
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The experiment was carried out to study the effect of variety and gibberellic acid in concentration (0 and 50)mg.lat-1 and BL in five concentration (0, 0.50 ,1 ,2 and 3)mg.ltr-1 and their interaction in some chemical Characteristics and total chlorophyll for Dill plant . the experiment designed according Randomized Complete Block Design (RCBD) and three replicates per treatment, compared to the average using less significant difference at the level of probability (0.05) , the results showed the following:- The effect of brassinolide with it,s concentrations led to obtain a significant increase in all the studied characteristics, so the superiority of the concentration of 2 mg.L-1 of brassinolide in each of Ca, Mg,Fe, and total chlorophyll T

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