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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 02 2013
Journal Name
Baghdad Science Journal
Derivation Power Sums of Even Integer Number Formula
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This paper included derivative method for the even r power sums of even integer numbers formula to approach high even (r+2) power sums of even integer numbers formula so on we can approach from derivative odd r power sums of even integer numbers formula to high odd (r+2) power sums of even integer numbers formula this derivative excellence have ability to used by computer programming language or any application like Microsoft Office Excel. Also this research discovered the relationship between r power sums of even integer numbers formula and both formulas for same power sums of odd integer numbers formula and for r power sums of all integer numbers formula in another way.

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Publication Date
Thu Aug 31 2023
Journal Name
Journal Of Legal Sciences
The Legal Qualification of the Marriage Mediation Contract
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Although the profession of a marriage mediator is dominated by a social character, and it is also characterized by its practice in the midst of strict secrecy, because Eastern societies innately reject this method of searching for a life partner. The two parties play a prominent role of the will in the events of legal effects, and the obligations and rights owed by the contracting parties, which leads us to consider the agreement between the mediator and the one who wants to marry going to the purely contractual nature, and thus requires the correct legal adaptation on the contractual relationship that is achieved between the marriage mediator and his clients from Those who want to get married and therefore we will divide this research into

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Publication Date
Tue Aug 05 2025
Journal Name
Journal Of Baghdad College Of Dentistry
The Systemic Host Modulation Therapy of Periodontal Diseases
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Background: The systemic host modulation therapy is new approach in treatment of periodontal diseases. Materials and methods:The target of this treatment is the host response to microbial infection because at present time,it is well known that most of damage found in periodontal diseases cause by the inflammatory -immune response to periodontal infections.Sub-antimicrobial-dose Doxycycline (SDD) is a 20-mg dose of Doxycycline (Periostat) that is approved and indicated as an adjunct to scaling and root planning (SRP) in the treatment of chronic periodontitis. Results:At present, SDD (Periostat) is the only systemically administered agent that is approved by the U.S. Food and Drug Administration (FDA) and accepted by the American Dental Asso

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Publication Date
Sat Nov 12 2022
Journal Name
Journal Of Accounting And Financial Studies ( Jafs )
The role of service quality in tax compliance
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The aim of the research is to clarify the role of service quality through its dimensions represented by (tangibility, reliability, safety, response, empathy) in tax compliance with taxpayers, i.e. performance of the duties and obligations of the taxpayer through its dimensions (registration, accounting, payment of the amount of tax), and to know For this role, a sample was taken from the taxpayers of the branches of the General Authority for Taxes spread in the governorate of Baghdad and its affiliated districts, which amount to (15) tax branches, as (215) questionnaires were distributed to know the impressions and reactions of the taxpayers regarding the level of service quality through the aforementioned dimensions. Using the statistic

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Publication Date
Sun Mar 15 2020
Journal Name
Journal Of The College Of Education For Women
Sources of Threatening Educational Security: Means and Effects
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Today’s world confronts various threats from different sources. Similar to deprivation of energy, economic facilities, or political deposition, educational poisoning is one of the dangerous phenomena that result from distorting and corrupting the ethical and educational components of teaching by various material and non – material means.This paper sheds light on the concept of the educational system which is not a mere process of teaching, but rather an endless process of socialization that begins in the family and develops into religious, ethical, scientific and mythological systems, all of which form the cognitive component. It also defines the necessary means by which it is transmitted from one generation into another. The educati

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Publication Date
Tue Aug 05 2025
Journal Name
Nasaq
Characteristics of Zoomorphic Metaphor in Russian Political Discourse
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Publication Date
Tue Mar 12 2019
Journal Name
Al-khwarizmi Engineering Journal
Die Design of Flexible Multi-Point Forming Process
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Multi-point forming (MPF) is an advanced flexible manufacture technology, and the technology results from the idea that the whole die is separated into small punches that can be adjusted height. This idea is applied to the traditional rigid blank-holder, so flexible blank-holder (FBH) idea can be obtained. In this work, the performance of a multi-point die is investigated with pins in square matrix and suitable blank holder. Each pin in the punch holder can be a significant moved according to the die high and at different load that applied with spring with respect to spring stiffness. The results shows the reduction in setting time with respect to traditional single point incremental forming process that lead to (90%). and also show duri

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Publication Date
Thu Jan 01 2009
Journal Name
Wasit Journal For Science & Medicine
Spectrophotometric Determination of Promethazine Hydrochloride by In (III)
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A simple, rapid and sensitive spectrophotometirc method for the determination of trace amounts of promethazine hydrochloride in the aqueous solution is described. The method is based on the complexation of promethazine hydrochloride with In (III) in the presence of sodium hydroxide to form an soluble product with maximum absorption at 304nm. Beer’s law is obeyed over the concentration range of (2- 20μg/ml) with molar absorptivity of (1.92× 103 L.mol-1 .cm -1 ). The optimum conditions for all development are described and the proposed method has been successfully applied for the determination of promethazine hydrochloride in bulk drug.

Publication Date
Mon Feb 04 2019
Journal Name
Iraqi Journal Of Physics
The optical properties of (PVA+PVP) + PANI blends
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Polyaniline polymer has been prepared by chemical oxidation
polymerization method in laboratory successfully. The PANI and
(PVA+PVP) as a polymer blends in different percentage (30%, 50%,
70%) from Polyaniline was prepared. The sample was studies as
optical properties by UV-vis spectrophotometer at (400-700) nm.
The result of optical energy gap was 2.23 eV for pure (PVA+ PVP)
and with additive was increasing with increasing PANI concentration
to become (2.49 for 30% to 2.52 for 70%) PANI. The goal of this
project is prepare triple blend polymer and study the effect when add
conductive polymer (Polyaniline) on the optical properties and
calculate optical constant as energy gap, refractive index, dielectric

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Publication Date
Sun Sep 29 2019
Journal Name
Annals Of Tropical Medicine And Public Health
Histopathological study of hepatic and pulmonary sheep's hydatidosis
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