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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 Jan 01 2018
Journal Name
Iraqi Journal Of Agricultural Sciences, 2018, 49(2), Pp. 179–187
Estimation of some genetic parameters for grain yield and its components of maize under watered and water stress
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Scopus (8)
Scopus
Publication Date
Thu Oct 01 2009
Journal Name
Iraqi Journal Of Physics
Effect of isovalent substitution and Quenching on the Transition Temperature of (Bi1-xPbx)2(Sr1-yBay)2Ca2Cu3O10+δ
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A high Tc superconductor with a nominal composition
(Bi1-xPbx)2(Sr1-yBay)2Ca2Cu3O10+δ for (0 £ x £ 0.5) and (0 £ y £ 0.5) was prepared by
a solid state reaction method. The effect of the substitution of Pb for Bi and Ba for Sr and
quenching temperature on the superconductivity has been investigated to obtain the
optimum conditions for the formation and stabilization of the high Tc phase (2223).
The results showed that the optimum sintering temperature for the pure composition is
equal to 875°C and the sintering time is equal to 240h with heating and cooling rate of
60°C/h . Our results indicated that a small amount of (Ba = 0.1) could raise the transition
temperature (Tc), but enhancing Ba to 0.4 has raised

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Publication Date
Mon May 01 2023
Journal Name
Journal Of Building Engineering
The influence of earthquake characteristics on the seismic performance of reinforced concrete buildings in Australia with varying heights
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In Australia, most of the existing buildings were designed before the release of the Australian standard for earthquake actions in 2007. Therefore, many existing buildings in Australia lack adequate seismic design, and their seismic performance must be assessed. The recent earthquake that struck Mansfield, Victoria near Melbourne elevated the need to produce fragility curves for existing reinforced concrete (RC) buildings in Australia. Fragility curves are frequently utilized to assess buildings’ seismic performance and it is defined as the demand probability surpassing capacity at a given intensity level. Numerous factors can influence the results of the fragility assessment of RC buildings. Among the most important factors that can affe

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Crossref (10)
Crossref
Publication Date
Sun May 08 2011
Journal Name
Journal Of Planner And Development
The Effect of the Natural and Cultural Environments Factors on the Architectural and Planning Characteristics of Sulaymaniyah Mosques
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Most of the mosques in the Islamic world fall under specific and known forms and patterns to a large extent, and such patterns have grown and evolved from the few basic and uniform models, but they changed slowly due to the impact with a mixture of changing functional requirements and cultural landscapes because of the variables of time and place to form patterns known and famous in this day across parts of the Islamic world and its borders. There was no exception to these patterns, but small numbers of mosques that were probably the result of personal experiences or improvisational resolutions, or in response to specific or temporary stimuli. However, the emergence of a specific pattern which does not belong to any of these patt

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Publication Date
Tue May 20 2008
Journal Name
Journal Of Planner And Development
The use of mathematical formulas to control river pollution Study area Diyala River within the city of Baquba
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Pollution of the aquatic environment and the depletion of the natural resource cause imbalance in the natural balance of the river environment and contributes to the deterioration of life and the killing of living organisms. Most of the old and modern cities and urban centers were set up close to the rivers because water enters the main lifeblood and all its facilities. The proximity of cities to rivers caused environmental problems resulting from the dumping of residues of these cities to a large and continuous, these wastes include all uses of the city (industrial, agricultural, residential and commercial) and others. The accumulation of these wastes inside the rivers water kills life and makes them unsuitable for various uses to bury

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Publication Date
Tue May 01 2018
Journal Name
Journal Of Global Pharma Technology
Equilibrium, thermodynamic and kinetic study of the adsorption of a new mono azo dye onto natural Iraq clay
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In the present work, bentonite clay was used as an adsorbent for the removal of a new prepared mono azo dye, 4-[6-bromo benzothiazolyl azo] thymol (BTAT) using batch adsorption method. The effect of many factors like adsorption time, adsorbent weight, initial BTAT concentration and temperature has been studied. The equilibrium adsorption data was described using Langmuir and frundlich adsorption isotherm. Based on kinetics study, it was found that the adsorption process follow pseudo second order kinetics. Thermodynamics data such as Gibbes Free energy ∆Gᵒ, entropy ∆Sᵒ and ∆Hᵒ were also determined using Vant Hoff plot.

Scopus (5)
Scopus
Publication Date
Wed Jun 30 2021
Journal Name
Iraqi Journal Of Market Research And Consumer Protection
EDUCATIONAL SURVEY ABOUT AWARENESS OF TONSILLITIS IN BABYLON PROVINCE: EDUCATIONAL SURVEY ABOUT AWARENESS OF TONSILLITIS IN BABYLON PROVINCE
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Tonsillitis is an infection or inflammation of the tonsils. Tonsillitis classified as acute, chronic (recurrent) and complication. Most often it is caused by a virus, but it may also be caused by the same bacteria that cause strep throat. According to numbers that data shows, the virus is more common, about 77.49% than bacterial which about 71.45% then fungal about 9.6%. The principal symptom of tonsillitis is a sore throat fever, swollen lymph nodes, nasal congestion, difficulty in swallowing and headache may also occur, according to if  symptoms of tonsillitis are known or not, data show that they know about (119 of people) (79.3) this result is greater than unknown which was about 31 (20.7).

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Publication Date
Tue Aug 20 2019
Journal Name
Political Sciences Journal
Means of the right to self - determination actions and patterns of its practices under the contemporary international development
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Abstract The means of self-determination have their peaceful and non-peaceful dimensions and are united(peaceful and non-peaceful) by international consensus adopted by international conventions and instruments. This has given it various dimensions at the applied level, especially in the light of the contemporary international developments witnessed by the world represented by a number of complete and incomplete implementation models that have nothing to do with the theory of truth Self-determination associated with the liberation of peoples from colonial domination or the liberation of oppressed nationalities

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Crossref
Publication Date
Sat Aug 31 2019
Journal Name
Association Of Arab Universities Journal Of Engineering Sciences
Improvement of Economic Water Productivity of Cucumber by using Soil Water Retention Technology under Subsurface Trickle Irrigation System
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Subsurface soil water retention (SWRT) is a recent technology for increasing the crop yield, water use efficiency and then the water productivity with less amount of applied water. The goal of this research was to evaluate the existing of SWRT with the influence of surface and subsurface trickle irrigation on economic water productivity of cucumber crop. Field study was carried out at the Hawr Rajab district of Baghdad governorate from October 1st, to December 31st, 2017. Three experimental treatments were used, treatment plot T1 using SWRT with subsurface trickle irrigation, plot T2 using SWRT with surface trickle irrigation, while plot T3 without using SWRT and using surface tickle irrigation system. The obtained results showed that the e

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Crossref (2)
Crossref
Publication Date
Mon Mar 07 2022
Journal Name
Journal Of Educational And Psychological Researches
The Degree of the E-Leadership Practice at Princess Nora Bint Abdul Rahman University of the Corona Pandemic
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The study aimed to identify the E-leadership practice at Princess Nora Bint Abdul Rahman University and to explore the obstacles that are facing the leaders in the implementation of E-leadership, in addition to find mechanisms to improve the practice of electronic driving at the university in light of the Corona pandemic. A descriptive analytical approach was used by depending on a questionnaire to collect the needed data. The study sample consisted of (139) heads of departments, attorneys' colleges and support Deanships universities. The study results showed that E-leadership employment recorded a medium to high degree. Especially at university, that publishing decisions electronically and uses technical means in providing its services.

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