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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 Oct 01 2018
Journal Name
2018 11th International Congress On Image And Signal Processing, Biomedical Engineering And Informatics (cisp-bmei)
3D Head Shape Analysis of Suspected Zika Infected Infants
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Publication Date
Sat May 01 2021
Journal Name
Journal Of Physics: Conference Series
Seismic performance of Al-wand earth dam: numerical analysis
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Abstract<p>The seismic can be threatened the stability of the flexible body of the earth dam and can cause completely damaged or deformation on their embankment. Therefore, a geotechnical engineer needs to know the effect of earthquakes on earth structures. The change in the seismic zone that recently Iraq affected is the reason for this research, in general, in 2017, the whole of Iraq, and in particular the region, where the Al-Wand earth dam (the subject of the study) is located, was exposed to several earthquakes. This research project mainly aims to study the behavior of Al-Wand earth dam under seismic load in different conditions by simulating Al-Wand earth dam through numerical modeling an</p> ... Show More
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Publication Date
Tue Jan 29 2019
Journal Name
Journal Of Accounting And Financial Studies ( Jafs )
Analysis Tax Advantage of Financing Leverage: An Empirical Research
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The research objective are analyze financial leverage advantage through analyze and discuss financial leverage cost, and achieve tax advantage. study include two firms ,oil firm and industrial companies firm with limited liability.The inductive method is used for the applied part in analyzing the financial data of the companies considered in 2011-2015.The result of the study shows that the financial leverage achieve present value of the costs is Negative . The study concluded that the most important conclusions of the tax advantage of leverage is higher costs as well as achieving a low tax shield ,This study found out the results that interest payments related to pre-tax all of the loan amount and the percentage of the interest rate on b

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Publication Date
Sat Dec 01 2018
Journal Name
Al-khwarizmi Engineering Journal
Dynamic Analysis of Thin Composite Cylindrical and Spherical Shells
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In this work, an investigation for the dynamic analysis of thin composite cylindrical and spherical shells is presented. The analytical solution is based upon the higher order shear deformation theory of elastic shells from which the developed equations are derived to deal with orthotropic layers. This will cover the determination of the fundamental natural frequencies and mode shapes for simply supported composites cylindrical and spherical shells.

      The analytical results obtained by using the derived equations were confirmed by the finite element technique using the well known Ansys package. The results have shown a good agreement with a maximum percentage of discrepancy, which gives a confidence o

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Publication Date
Fri Jul 21 2023
Journal Name
Journal Of Engineering
EXPERIMENTAL AND NUMERICAL STRESS ANALYSIS OF INVOLUTE SPLINED SHAFT
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In this study, the induced splined shaft teeth contact and bending stresses have been investigated numerically using finite element method(Ansys package version 11.0) with changing the most effecting design parameter,(pressure angle, teeth number, fillet radius and normal module), for internal and external splined shaft. Experimental work has been achieved using two dimensional photoelastic techniques to get the contact and bending stresses; the used material is Bakelite sheet type “PSM-4”.
The results of numerical stress analysis indicate that, the increasing of the pressure angle and fillet radius decrease the bending stress and increase the contact stress for both internal and external spline shaft teeth while the increasing of

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Publication Date
Wed Sep 01 2010
Journal Name
Journal Of Engineering
Analysis of Concrete Flexural Members Reinforced with Fibre Polymer
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Publication Date
Sun Jun 01 2014
Journal Name
Baghdad Science Journal
Clouds Height Classification Using Texture Analysis of Meteosat Images
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In the present work, pattern recognition is carried out by the contrast and relative variance of clouds. The K-mean clustering process is then applied to classify the cloud type; also, texture analysis being adopted to extract the textural features and using them in cloud classification process. The test image used in the classification process is the Meteosat-7 image for the D3 region.The K-mean method is adopted as an unsupervised classification. This method depends on the initial chosen seeds of cluster. Since, the initial seeds are chosen randomly, the user supply a set of means, or cluster centers in the n-dimensional space.The K-mean cluster has been applied on two bands (IR2 band) and (water vapour band).The textural analysis is used

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Publication Date
Mon Oct 01 2018
Journal Name
Journal Of Engineering
Finite Element Analysis of Raft Foundation under Coupled Moment
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Due to wind wave actions, ships impacts, high-speed vehicles and others resources of loading, structures such as high buildings rise bridge and electric transmission towers undergo significant coupled moment loads. In this study, the effect of increasing the value of coupled moment and increasing the rigidity of raft footing on the horizontal deflection by using 3-D finite element using ABAQUS program. The results showed that the increasing the coupled moment value leads to an increase in lateral deflection and increase in the rotational angle (α◦). The rotational angle increases from (0.014, 0.15 to 0.19) at coupled moment (120 kN.m), (0.29, 0.31 and 0.49) at coupled moment (240 kN.m) and (0.57, 0.63 and 1.03) at cou

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Publication Date
Thu Aug 31 2017
Journal Name
Journal Of Engineering
Energy Analysis of Solar Collector With perforated Absorber Plate
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The thermal performance of three solar collectors with 3, 6 mm and without perforation absorber plate was assessed experimentally. The experimental tests were implemented in Baghdad during the January and February 2017. Five values of airflow rates range between 0.01 – 0.1 m3/s were used through the test with a constant airflow rate during the test day. The variation of the following parameters air temperature difference, useful energy, absorber plate temperature, and collector efficiency was recorded every 15 minutes. The experimental data reports that the increases  the number of absorber plate perforations with a small diameter is more efficient rather than increasing the hole diameter of the absorber plate with decr

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Publication Date
Thu Mar 14 2019
Journal Name
Al-khwarizmi Engineering Journal
Creeping Gait Analysis and Simulation of a Quadruped Robot
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A quadruped (four-legged) robot locomotion has the potential ability for using in different applications such as walking over soft and rough terrains and to grantee the mobility and flexibility. In general, quadruped robots have three main periodic gaits:  creeping gait, running gait and galloping gait. The main problem of the quadruped robot during walking is the needing to be statically stable for slow gaits such as creeping gait. The statically stable walking as a condition depends on the stability margins that calculated particularly for this gait. In this paper, the creeping gait sequence analysis of each leg step during the swing and fixed phases has been carried out. The calculation of the minimum stability margins depends up

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