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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
Sun Jun 12 2011
Journal Name
Baghdad Science Journal
Energy band diagram of In2O3/ Si heterojunction
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Crystalline In2O3 Thin films have been prepared by flash evaporation. We have studied the crystal structure of as deposited at 303K and annealed at 523K using X-ray diffraction. The Hall Effect measurements confirmed that electrons were predominant charges in the conduction process (i.e n-type).It is found that the absorption coefficient of the prepared films decreases with increasing Ta. The d.c conductivity study showed that the conductivity increase with increasing Ta , whereas the activation energy decreases with increasing Ta. Also we study the barrier tunneling diode for In2O3/Si heterostructure grown by Flash evaporation technique. (capacitance-voltage C-V) spectroscopy measurements were performed at 303 K and at the annealing temper

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Publication Date
Sun Mar 01 2015
Journal Name
Computer Systems Science & Engineering
Parameters' fine tuning of differential evolution algorithm
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Most heuristic search method's performances are dependent on parameter choices. These parameter settings govern how new candidate solutions are generated and then applied by the algorithm. They essentially play a key role in determining the quality of the solution obtained and the efficiency of the search. Their fine-tuning techniques are still an on-going research area. Differential Evolution (DE) algorithm is a very powerful optimization method and has become popular in many fields. Based on the prolonged research work on DE, it is now arguably one of the most outstanding stochastic optimization algorithms for real-parameter optimization. One reason for its popularity is its widely appreciated property of having only a small number of par

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Publication Date
Mon Jul 10 2023
Journal Name
Journal Of Engineering
Removal of Water Turbidity by Different Coagulants
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During the last decade, there has been a concern about the relation between aluminum residuals in treated water and Alzheimer disease, and more interest has been considered on the development of natural coagulants. The present study aimed to investigate the efficiency of alum as a primary coagulant in conjunction with mallow, Arabic gum and okra as coagulant aids for the treatment of water samples containing synthetic turbidity of kaolin. Jar test experiments were carried out for initial raw water turbidities 100, 200 and 500 (NTU). The optimum doses of alum, mallow, Arabic gum and okra were 20, 2, 1 and 1 mg/L for100 NTU turbidity level, 35, 4, 2 and 3 mg/L , for 200NTU turbidity level and 50, 8, 10 and 8 mg/L for 500 NTU turbidity leve

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Publication Date
Sun Dec 30 2001
Journal Name
Iraqi Journal Of Chemical And Petroleum Engineering
Removal of Chromium from Wastewater by Adsorption
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Publication Date
Sun Jan 01 2023
Journal Name
Palestine Journal Of Mathematics
STATISTICAL PROPERTIES OF GENERALIZED EXPONENTIAL RAYLEIGH DISTRIBUTION
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This paper demonstrates the construction of a modern generalized Exponential Rayleigh distribution by merging two distributions with a single parameter. The "New generalized Exponential-Rayleigh distribution" specifies joining the Reliability function of exponential pdf with the Reliability function of Rayleigh pdf, and then adding a shape parameter for this distribution. Finally, the mathematical and statistical characteristics of such a distribution are accomplished

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Publication Date
Wed Sep 30 2020
Journal Name
Iraqi Journal Of Chemical And Petroleum Engineering
Studying Thermal Cracking Behavior of Vacuum Residue
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   In the oil industry, the processing of vacuum residue has an important economic and environmental benefit. This work aims to produce industrial petroleum coke with light fuel fractions (gasoline, kerosene , gas oil) as the main product and de asphalted oil (DAO) as a side production from treatment secondary product matter of vacuum residue. Vacuum residue was produced from the bottom of vacuum distillation unit of the crude oil. Experimentally, the study investigated the effect of the thermal conversion process on (vacuum residue) as a raw material at temperature reaches to 500 °C, pressure 20 atm. and residence time for about 3 hours. The first step of this treatment is constructing a carbon steel batch re

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Publication Date
Mon Mar 08 2021
Journal Name
Baghdad Science Journal
Oscillation of the per capita growth rate
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in this paper cquations of the per capita growth rate are considered sufficient conditions for oscillation of all solutions are obtained the asymptotie behavior of the nonoscillatory solution of all souliotions are obtained

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Publication Date
Sun Feb 03 2019
Journal Name
Journal Of The College Of Education For Women
Trends of College Faculty Towards Psycho-lab
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1. Building an analysis tool that determines the strength of a relationship in a psychological experiment. 2. To identify the degree of direction of the research sample on the lab psychological variable according to gender (males - females). 3. Recognize that there are no statistically significant differences about the psychological laboratory variable according to gender (males - females). To investigate the goals of the current research, seek to develop a tool to measure attitudes towards laboratory psychological variables that are scaled according to a range of 24 items including paragraphs ranging from positive to negative attitudes that gradually change from significantly agree, moderately agree, slightly agree, not agree, and I do

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Publication Date
Fri Jun 30 2023
Journal Name
College Of Islamic Sciences
Al-Junaid al-Baghdadi's theory of happines
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The research presents the "theory of happiness according to Junaid al-Baghdadi" and the theory's most significant characteristics.

The reasons for happiness, include knowledge, love, and providence, and happiness itself is the return of man or spirit to the source from which it originated.

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Publication Date
Mon Jul 25 2016
Journal Name
Earthquakes And Structures
Vibration response of saturated sand - foundation system
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In this study, the response and behavior of machine foundations resting on dry and saturated sand was investigated experimentally. A physical model was manufactured to simulate steady state harmonic load applied on a footing resting on sandy soil at different operating frequencies. Total of (84) physical models were performed. The parameters that were taken into consideration include loading frequency, size of footing and different soil conditions. The footing parameters are related to the size of the rectangular footing and depth of embedment. Two sizes of rectangular steel model footing were used. The footings were tested by changing all parameters at the surface and at 50 mm depth below model surface. Meanwhile, the investigated paramete

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