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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
Tue Aug 15 2017
Journal Name
Journal Of Immunology
The Effect of Inhibitory Signals on the Priming of Drug Hapten–Specific T Cells That Express Distinct Vβ Receptors
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Abstract<p>Drug hypersensitivity involves the activation of T cells in an HLA allele–restricted manner. Because the majority of individuals who carry HLA risk alleles do not develop hypersensitivity, other parameters must control development of the drug-specific T cell response. Thus, we have used a T cell–priming assay and nitroso sulfamethoxazole (SMX-NO) as a model Ag to investigate the activation of specific TCR Vβ subtypes, the impact of programmed death -1 (PD-1), CTL-associated protein 4 (CTLA4), and T cell Ig and mucin domain protein-3 (TIM-3) coinhibitory signaling on activation of naive and memory T cells, and the ability of regulatory T cells (Tregs) to prevent responses. An expa</p> ... Show More
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Publication Date
Sat Dec 01 2018
Journal Name
Journal Of Accounting And Financial Studies ( Jafs )
Performance evaluation of the Iraq Stock Exchange market under the financial losses of terrorism for the years 2010-2015
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The Research topic seeks to analyze the "political risk and its component Terrorism Index," which consists of five indicators index, a number of terrorist operations, and the number of dead and wounded, and the size of the physical losses, based search sub-index analysis of material losses for the index terrorism and its impact on the indicators listed on the Iraq Stock Exchange Finance. As for the practical side, it has been use style gradient unrestricted and link the sample represented by ten banks listed on the Iraq Stock Exchange. was Statement the correlation and interaction of variables of the studySearch results produced that the volume of material losses is the most important indicator in the influential force and it explain a v

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Publication Date
Sun Dec 07 2008
Journal Name
Baghdad Science Journal
EFFECT OF HARDENING TO DROUGHT TOLERANCE ON THE MOISTURE CONTENT OF SUNFLOWER PLANT. I. MOISTURE PERCENTAGEIN ROOT AND STEM
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Two field experiments were conducted during the spring seasons of 2000,2001.The aim was to study the effect of hardening to drought tolerance on moisture percentage in root and stem of sunflower plant during growth stages . Asplit-split plots design was used with three replications.The main plots included irrigation treatments:irrigation to100%(full irrigation),75and50%of available soil water.The sub plots were the cultivars Euroflor and Flame.The sub-sub plots represented four seed soaking treatments :Control(unsoaked),soaking in water ,Paclobutrazol solution(250ppm),and Pix solution(500ppm). The soaking continued for 24 hours then seeds were dried at room temperature until they regained their original weight. Amount of water

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Publication Date
Wed Jun 20 2018
Journal Name
Al-academy
The Performance of the Actor (Sami Abdul-Hameed) in the Picturesque Theatre of the play Director (Salah AL-Kassab)
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The researches discusses the style of acting used by (Sami Abdul-Hameed) in one of the play director (Salah AL-Kassab) production whine he called; Picturesque.
The problem of this research is to discover the differences between the performance of (Sami Abdul-Hameed) in the Picturesque Theatre and the other theatre.
The goal of the research is to get to know the style of acting used in (king Lear) directed by (Salah AL-Kassab).
After defining the term (picturesque theatre), the researcher discusses the elements of the Visual theatre and the components of the stage picture according to (Alexander Dean) and he refers to those well-known director who had emphasized the Visual elements. Such as (Gordon Grieg) and (Franco Zeferrel

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Publication Date
Fri Mar 29 2024
Journal Name
Iraqi Journal Of Science
Kinematic Properties of the Gaseous Stellar Dynamics Using the Tully-Fisher Relation in the Different Types of Spiral Galaxies
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     The goal of this paper is to show the kinematic characteristics of gaseous stellar dynamics using scaling coefficient relationships (such as Tully-Fisher) in different spiral galaxies. We selected a sample of types of spiral morphology  (116 early, 150 intermediate, and 146 late) from previous literature work, and used statistical software (statistic-win-program) to find out the associations of multiple factors under investigation, such as the main kinematic properties of the gaseous-stellar (mass, luminosity, rotational speed, and baryons) in different types of spiral galaxies. We concluded that there is a robust positive connection between Log Vrot.max.) and Log Mstar(B-V), as well as between Log Vrot.max. and Log Mbar (

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Publication Date
Wed May 08 2024
Journal Name
Babylon: Abjad Publising House
“Translation is the Art of Negotiating with Words”, in Hassad aS-Sineen(Harvest of Years): Essays in Teaching Translation
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Publication Date
Mon May 29 2023
Journal Name
Rawal Medical Journal
Comparative prospective study of knee pain in medial pararpatellar and transpatellar entry for interlocking nail fixation of tibia fracture
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Objective: To compare two insertion techniques of intramedullary interlocking nails (medial parapatellar versus intrapatellar insertion) in patients with tibial fractures. Methodology: This study was performed at Al-Kindy Teaching Hospital from August 2020 until March 2022. All 32 patients with tibial fractures (29 males and 3 females) were included for tibial closed nail fixation and then followed up for 6 months. We categorized these patients into two groups; Group A (16 patients), those treated by medial parapatellar insertion of an interlocking nail, and Group B (16 patients) with transpatellar tibial nail insertion. All patients were treated by the same surgical team. Results: The range of movement in two weeks (from extension

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Publication Date
Sun Jan 01 2012
Journal Name
Karbala University The 2nd Scientific Conference
Effect of budding autumn date, rootstock and cultivars on budtake and some growth characteristics of japanese plum prunus salicina
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Publication Date
Thu Aug 01 2019
Journal Name
Journal Of Economics And Administrative Sciences
The use of the Biz method and classical methods in estimating the parameters of the binary logistic regression model
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Abstract

          Binary logistic regression model used in data classification and it is the strongest most flexible tool in study cases variable response binary when compared to linear regression. In this research, some classic methods were used to estimate parameters binary logistic regression model, included the maximum likelihood method, minimum chi-square method, weighted least squares, with bayes estimation , to choose the best method of estimation by default values to estimate parameters according two different models of general linear regression models ,and different s

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Publication Date
Thu Apr 02 2020
Journal Name
Iop Conference Series: Materials Science And Engineering
The effects of additives in to heat treatment temperature and time on the crystallinity of lithium silicate glass-ceramic
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