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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
Sat Sep 28 2024
Journal Name
Journal Of The Pakistan Medical Association
Investigating the correlation of the second derivative of digital pulse wave (DPW) with QT variability index in women
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Objective: To determine the correlation between the second derivative of digital pulse wave and the QT variability index. Method: The cross-sectional study was conducted from October 2021 to May 2022 at the Department of Physiology, College of Medicine, University of Mustansiriyah, Baghdad, Iraq, and comprised healthy women. Samples were raised by simple random technique. Digital pulse waves were captured using a fingertip pulse wave transducer. Lab Chart Pro version 7.2 was used to automatically detect and quantify the amplitude of A, B, C, D and E waves expressed by the second derivative. QT interval of each beat was recorded by electrocardiogram, and was calculated automatically via Lab chart Pro version 7.2 without averaging. D

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Publication Date
Fri Dec 31 2021
Journal Name
Political Sciences Journal
Alternative Perspectives in Explaining the Conduct of US Foreign Policy: A Historical-Critical View of Decision-Making Models
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Receipt date:2/17/2021 acceptance date:3/16/2021 Publishing date:12/31/2021

Creative Commons LicenseThis work is licensed under a Creative Commons Attribution 4.0 International License.

Objective: This paper investigates the contradictions in the decision-making process of the United States, which historically proven to be successful policies in the short term, but in the long term proven to be wanting and failure. Methodology: The paper uses descriptive, historical, comparative method. A

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Publication Date
Sat Jan 01 2011
Journal Name
Iraqi Journal Of Physics
Effect of SiC particles and water absorption on thermal conductivity of epoxy reinforcement by (bi-directional) glass fiber
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In this study the thermal conductivity of the epoxy composites were characterized as function of volume fraction, particle size of fillers and the time of immersion(30,60,90)days in water .Composites plates were prepared by incorporating (bi-directional) (0º-90º) glass fiber and silicon carbide (SiC) particles of (0.1,0.5,1)mm as particle size at (10%,20%,30%,40%) percent volume in epoxy matrix.
The composites shows slightly increase of the thermal conductivity with increasing volume fraction, particle size and increase with increasing the days of immersion in water. The maximum thermal conductivity (0.51W/m.K) was obtained before the immersion in water at 90 days for epoxy reinforcement by bi-directional glass fiber and SiC particl

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Publication Date
Wed Mar 16 2022
Journal Name
Journal Of Educational And Psychological Researches
The Effect of a Training Program to Develop the Skill of Organizing Time for the Kindergarten Department Students
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The current research aims to identify the time-management skills based on the post-test of the experimental group as well as to examine the effect of a training program on developing the skills of managing time among the study sample. To achieve the research objectives, the researcher designed a scale of time management skill included (30) paragraphs. The research reached that the training program is significantly effective in managing and organizing time. There are statistically significant differences in pre-posttest between the experimental and control groups.

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Publication Date
Fri Feb 08 2019
Journal Name
Iraqi Journal Of Laser
Effect of Laser Surface Modification on the Corrosion Resistance of Dental Alloys in Artificial Saliva Containing Alcoholic Beverages
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The objective of this study is to demonstrate the corrosion behavior of dental alloys Co-Cr-Mo, Ni-Cr-Mo and Ti-Al-V in artificial saliva at pH=4 and 37oC enriched with ethyl alcohol at 8% percentage. The linear and cyclic polarizations were investigated by electrochemical measurements. Laser surface modification was achieved for the three dental alloys to improve corrosion resistance. The results show that corrosion resistance of Co-Cr-Mo and Ni-Cr-Mo alloys only were increased after laser treatment due to the fact that laser radiation has caused a smoother surface, in addition to the decrement in corrosion current densities (icorr) for Co-Cr-Mo and Ni-Cr-Mo alloys and the reverse scan in cyclic polarization became in the wider range of

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Publication Date
Sun Jul 01 2001
Journal Name
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A study of Immune Response in Golden Hamsters to Vaccinate against Leishmaniasis with Killed Promastigotes of Leishmania tropica
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Publication Date
Sat Dec 30 2023
Journal Name
Iraqi Journal Of Chemical And Petroleum Engineering
Kinetic Modeling of Electromembrane Extraction of Copper using a Novel Electrolytic Cell Provided with a Supported Liquid Membrane
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   The aim of this study is to investigate the kinetics of copper removal from aqueous solutions using an electromembrane extraction (EME) system. To achieve this, a unique electrochemical cell design was adopted comprising two glass chambers, a supported liquid membrane (SLM), a graphite anode, and a stainless-steel cathode. The SLM consisted of a polypropylene flat membrane infused with 1-octanol as a solvent and bis(2-ethylhexyl) phosphate (DEHP) as a carrier. The impact of various factors on the kinetics constant rate was outlined, including the applied voltage, initial pH of the donor phase solution, and initial copper concentration. The results demonstrated a significant influence of the applied voltage on enhancing the rate of c

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Publication Date
Tue May 16 2023
Journal Name
International Journal Of Professional Business Review
The Mediating Role of Operations Management Practices on the Relationship Between the Dimensions of Manufacturing Flexibility and Competitiveness
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Purpose: The aim of this study is to examine knowing the real role and impact of manufacturing flexibility on competitiveness through operations management practices, which is to determine the role and impact of manufacturing flexibility on competitiveness directly in the General Company for the Battery Industry. On the other hand, identifying the indirect role of flexible manufacturing systems in enhancing competitiveness.   Theoretical framework: The main purpose of the theoretical framework is to identify all the dimensions and variables included in the current study, and thus form a deep scientific view of the study and its variables.   Design/methodology/approach: field coexistence, personal interviews, and classification of

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Publication Date
Fri Oct 04 2013
Journal Name
International Journal Of Scientific Research
therapeutic effect of aqueous extract of vitis vinifera L. againts thyrotoxicosis induced by Levothyroxine sodium in rabbit females
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Publication Date
Thu Jun 01 2017
Journal Name
Research Journal Of Pharmaceutical, Biological And Chemical Sciences
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. Keywords: Mixed ligand complexes, spectral studies, 2-aminophenol, tributylphosphine.