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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 Mar 08 2021
Journal Name
Baghdad Science Journal
effect of doping with nitrogen on the optical constant of the sic films prepared by TEA-Co2 Laser
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In this research prepare membranes pure silicon carbide (SiC) as well as gas Alloy (ammonia) and using a laser was leaked membrane of glass flooring. To Drasesh optical properties of membranes prepared depending on the technique (Swanepoel) and Adhrt results obtained in general increased permeability pure silicon membranes

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Publication Date
Fri Apr 01 2022
Journal Name
Chemical Engineering Science
Numerical modelling of flow through nodes in foams within the “dry” limit in the presence of solid particles
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Publication Date
Sat Jul 27 2019
Journal Name
Sensors
Neurophysiological Characterization of a Non-Human Primate Model of Traumatic Spinal Cord Injury Utilizing Fine-Wire EMG Electrodes
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This study aims to characterize traumatic spinal cord injury (TSCI) neurophysiologically using an intramuscular fine-wire electromyography (EMG) electrode pair. EMG data were collected from an agonist-antagonist pair of tail muscles of Macaca fasicularis, pre- and post-lesion, and for a treatment and control group. The EMG signals were decomposed into multi-resolution subsets using wavelet transforms (WT), then the relative power (RP) was calculated for each individual reconstructed EMG sub-band. Linear mixed models were developed to test three hypotheses: (i) asymmetrical volitional activity of left and right side tail muscles (ii) the effect of the experimental TSCI on the frequency content of the EMG signal, (iii) and the effect

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Publication Date
Mon Sep 30 2019
Journal Name
College Of Islamic Sciences
Detailed interpretation of Sheikh Abdullah Knon A look at the curriculum and method of innovation Critical inductive study
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The problem lies in the main research Where the site of this interpretation of the books of interpretation and what is new and how?
The objectives of this research Vjat to give a quick overview of Sheikh Kenon and the qualifications that made him interpreter, as the goal of the research to reveal the method of Sheikh Kenon highlighting what he has and what is new and show.
The researcher used the inductive method to read the whole book and the comparative approach to compare it with others. He also used the critical method to distinguish between the positions of strength and weakness in the book. The most important results are as follows: :
1 - Sheikh Abdullah Kenon language writer familiar with many sciences, such as jurisprude

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Publication Date
Sat Nov 15 2014
Journal Name
World Journal Of Pharmaceutical Sciences
Prevalence of JAK2 V617F Mutation and Serum Levels of Alkaline Phosphatase and Lactate Dehydrogenase in Chronic Myelogenous Leukemia
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Chronic myelogenous leukemia (CML) is a myeloproliferative neoplasm arises from Bcr-Abl gene translocation(called Ph chromosome) in hematopoietic stem cells (HSCs).JAK2V617F mutation is an acquired singlenucleotide polymorphism (SNP) occurs in JAK2 gene and is associated with many hematological malignancyother than CML. This study aimed to investigate the prevalence of JAK2V617F mutation and serum levels ofalkaline phophatase (ALP) and lactate dehydrogenase (LDH) in Ph+ CML Iraqi patients treated with imatinib.Blood samples were collected from 42 Ph+ CML patients who have been received at least six month therapywith imatinib. DNA was extracted, and real time polymerase chain reaction (qPCR) was used for JAK2V617Fdetection. Serum levels of A

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Publication Date
Sat May 01 2021
Journal Name
Materials Today: Proceedings
WITHDRAWN: Application of net pay for reservoir characterization in carbonate reservoir rock – Case study: South-eastern of Iraq
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Publication Date
Thu Aug 24 2017
Journal Name
Synthesis, Characterization And Antibacterial Activity Of Mixed Ligands Complexes Of Some Metal Ions With 2-aminophenol And Tributylphosphine.
Synthesis, Characterization and antibacterial activity of mixed ligands complexes of some metal ions with 2-aminophenol and tributylphosphine
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Four metal complexes mixed ligand of 2-aminophenol (2-AP) and tributylphosphine (PBu3) were produced in aqueous ethanol with (1:2:2) (M:2-AP:PBu3). The prepared complexes were identified by using flame atomic absorption, FT.IR and UV-Vis spectroscopic methods as well as magnetic susceptibility and conductivity measurements. In addition antibacterial activity of the two ligands and mixed ligand complexes oboist three species of bacteria were also examined. The ligands and their complexes show good bacterial activities. From the obtained data the octahedral geometry was suggested for all prepared complexes.

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Publication Date
Tue Jan 01 2019
Journal Name
Journal Of Engineering And Applied Sciences
Effect Of Aluminum On The Structural, Optical, Electrical And Photovoltaic Properties Of ZnSe/n-Si Heterojunction Solar Cell
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Aluminum doped zinc selenide ZnSe/n-Si thin films of (250∓20 nm) thickness with (0.01, 0.02 and 0.03), are depositing on the two type of substrate (glass and n-Si) to manufacture (ZnSe/n-Si) solar cell through using thermal vacuum evaporation procedure. physical and optoelectronic properties were examined for the samples. X-Ray and AFM techniques are using to study the structure properties. The energy band gap of as-deposited ZnSe thin films for changed dopant ratio were ranging from (2.6-2.68 eV). The results of Hall effect show that pure and doping films were (p-type), and the concentration carriers and the carriers mobility increases with increase Al-dopant ratio. The (C-V) have shown that the heterojunction were of abrupt type. In add

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Publication Date
Sun Mar 06 2016
Journal Name
Baghdad Science Journal
Synthesis and Characterization of Some New Azo Dyes Derivatives Via Chalcone and Study Some of Their Biological Activity
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This work includes synthesis of new six membered heterocyclic rings with effective amino group using the reaction of benzylideneacetophenone (chalcone) (1) with thiourea or urea in alcoholic basic medium to form: 1,3-thiazen-2-amine (2), and 1,3-oxazin-2-amine (8) respectively. The diazotization reaction was carried out with sodium nitrite in presence of hydrochloric acid to form diazonium salts which suffered coupling reaction with naphthols and phenols in the presence of sodium hydroxide to form colored azo dyes (4-7, and 10-13). o-methylation reaction of compounds (7) and (10) yielded : 1,3-thiazin -2-yl-diazenyl (14), and 1,3-oxazin-2-yl-diazenyl (15) respectively.The new compounds were characterized using vario

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Publication Date
Mon Jul 01 2019
Journal Name
Iop Conference Series: Materials Science And Engineering
Study of different geostatistical methods to model formation porosity (Cast study of Zubair formation in Luhais oil field)
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Abstract<p>This study is concerned with making comparison in using different geostatistical methods for porosity distribution of upper shale member - Zubair formation in Luhais oil field which was chosen to study.</p><p>Kriging, Gaussian random function simulation and sequential Gaussian simulation geostatistical methods were adopted in this study. After preparing all needed data which are contour map, well heads of 12 wells, well tops and porosity from CPI log. Petrel software 2009 was used for porosity distribution of mentioned formation in methods that are showed above. Comparisons were made among these three methods in order to choose the best one, the comparing cri</p> ... Show More
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