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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 Feb 01 2016
Journal Name
Journal Of Engineering
Fatigue Behavior of Modified Asphalt Concrete Pavement
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Fatigue cracking is the most common distress in road pavement. It is mainly due to the increase in the number of load repetition of vehicles, particularly those with high axle loads, and to the environmental conditions. In this study, four-point bending beam fatigue testing has been used for control and modified mixture under various micro strain levels of (250 μƐ, 400 μƐ, and 750 μƐ) and 5HZ. The main objective of the study is to provide a comparative evaluation of pavement resistance to the phenomenon of fatigue cracking between modified asphalt concrete and conventional asphalt concrete mixes (under the influence of three percentage of Silica fumes 1%, 2%, 3% by the weight of asphalt content), and (chan

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Publication Date
Tue Jul 01 2014
Journal Name
Sage Open
Individual Mobility and the Sense of “Deadlock”
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Individual mobility is an outcome of the rapid changes in life; it is revealed in particular literary works within the end of the 19th century. Mobility is clearer in modern time as the individual has become physically freer in his movement. But the individual’s freedom is often conditioned by restrictions. Usually, change stimulates individuals to obtain new structure of feeling; the individual mocks or rages against institutions, or he would comply, suffering rapid personal deterioration as he faces effective stability or institutions. There is a continuous sense of “deadlock.” Sylvia Plath’s novel reflects the depression of an intellectual young woman who fails to find her right path muddled by an inconsistent, confusing

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Publication Date
Fri Dec 01 2023
Journal Name
Baghdad Science Journal
Nano composites of PAM Reinforced with Al2O3
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         The aim of this investigation is to determine how different weight percentages of alumina nanoparticles, including 0.02, 0.04, and 0.06 percent wt, affect the physical characteristics of Poly Acrylamide (PAAM). Using a hot plate magnetic stirrer, 10 g of poly acrylamide powder was dissolved in 90 g of di-ionized distillate water for 4 hours to produce PAAM with a concentration of 0.11 g/ml. Four sections of the resulting solution, each with a volume of 20 ml, were created. Each solution was added independently with alumina nanoparticles in different ratios 0.0, 0.02, 0.04, and 0.06 to create four nano fluid solutions with different alumina nanoparticle contents based on each weight percent. The hand casting process for n

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Publication Date
Thu Sep 13 2018
Journal Name
Baghdad Science Journal
Design and Evaluation of a Polarizer Filter
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This research includes theoretical and evaluation design of a polarizer filter of high transmission in the near IR region of (900-1200nm) for different incidence angles to obtain a long wave and short wave pass filter using analytical calculations. Results refer to a new configuration design in fewer layers than used in previous studies in the long wave pass at incidence angles (45o,50o,55o). Adopted Hafnium dioxide (HfO2) and Magnesium fluoride (MgF2) as coating material at design wavelength (933nm), the study also included design short wave pass polarizer by using the same coating material.

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Publication Date
Tue Dec 30 2014
Journal Name
Iraqi Journal Of Chemical And Petroleum Engineering
Heat Transfer Efficiency of Different Composite Insulators
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This research aims to investigate the thermal performance of different thermal composite insulators, wrapped around a closed-loop copper pipe (CLP). To achieve this aim a system was designed and manufactured. It is consisted of closed water tank insulated by Rock Wool, and supplied with two electric heaters, two thermostat, a flow meter, a water pump, digital temperature scales, and four series of (CLP).
Six insulators were prepared namely; composites of Impregnated Fiberglass with Elastoclad and foaming Rubber (FER), Impregnated Fiberglass with Elastoclad resin and Polymeric Membrane (FEM), Impregnated Fiberglass with Polyurethane thermoset resin and Foaming Rubber (FUR), Impregnated Fiberglass with Polyurethane thermoset resin and P

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Publication Date
Mon Oct 01 2012
Journal Name
Al–bahith Al–a'alami
Semiotics of “Name Calling” in Propaganda Discourse
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The process of name calling in the propaganda discourse is one of the most important methods of persuasive propaganda act, based on the ideology of working with the function, and the valuation of this function, creating a hermeneutic representation of the meaning falls within a specific format and responds to a specific function, which is the realization of the intent of the propaganda doer in persuasion and persuasion through negative and positive propaganda logic. The method of name calling has played a dangerous and horrific role in conflicts and ideological and military wars throughout history.

This study aims to find out the mechanisms of semiotics system behind discourse of propaganda far from substantive&n

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Publication Date
Fri Jun 01 2007
Journal Name
Al-khwarizmi Engineering Journal
Application of Fuzzy Logic in Servo Motor
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 In this work the design and application of a fuzzy logic controller to DC-servomotor is investigated. The proposed strategy is intended to improve the performance of the original control system by use of a fuzzy logic controller (FLC) as the motor load changes. Computer simulation demonstrates that FLC is effective in position control of a DC-servomotor comparing with conventional one.

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Publication Date
Fri Jan 01 2016
Journal Name
Journal Of Engineering
Some Durability Test of No-Fine Concrete
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In this study, two types of mixes were adopted by using two grading of coarse aggregate. The practical side of this study was to produce no-fine aggregate concrete by using crushed clay brick aggregates. The durability of the produced concrete and internal sulfate attack was studied.      For durability assessment, it is found that the no-fine concrete made with crushed brick aggregate lost about (15-25) % of its compressive strength after being subjected to 60 cycles of wetting and drying with age 120 days. The curing condition showed that the water curing improved the compressive strength with a rate higher than that when sealed or air dry curing were used. The crushed brick no-fine concrete de

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Publication Date
Sat Oct 01 2016
Journal Name
Journal Of Engineering
The Application of Biomimicry in Kinetic Facades
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Biomimicry, as a way of thinking to go back to nature for inspiration, has its impact on many contemporary technological achievements. Some of them are used to design and construct kinetic facades in architecture, because of the importance role of facades in reducing sun radiation, that enter the building through using shading  systems and components. In light of this, research problem is determined: "Do technologies which are inspired by biomimicry effect shading in kinetic facades through its characteristics in materials and the mechanics. So the research identifies its goal as: "To identify the types of kinetic facades in buildings and their characteristics as materials and shading mechanism associated with the b

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Publication Date
Fri Jan 01 2016
Journal Name
Journal Of Engineering
Semantic Similarity Assessment of Volunteered Geographic Information
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The recent development in communication technologies between individuals allows for the establishment of more informal collaborative map data projects which are called volunteered geographic information (VGI). These projects, such as OpenStreetMap (OSM) project, seek to create free alternative maps which let users add or input new materials to the data of others. The information of different VGI data sources is often not compliant to any standard and each organization is producing a dataset at various level of richness. In this research the assessment of semantic data quality provided by web sources, e.g. OSM will depend on a comparison with the information from standard sources. This will include the validity of semanti

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