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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
Wed Sep 30 2020
Journal Name
Journal Of Accounting And Financial Studies ( Jafs )
Evaluating the extent of the response of the tax administration leaders towards the concept of the strategic lens and its relationship to tax pioneer performance: Applied Research in the General Authority for taxes
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The aim of the research is to evaluate the response of the researched leaders towards practicing the concept of the lens, which is its dimensions with (stakeholders, resource mobilization, knowledge development, culture management) and the nature of its relationship to tax pioneer performance represented in its dimensions (strategic direction, leadership indicators, growth, renewal and modernization, efficiency, Effectiveness) The questionnaire was approved as a main tool in collecting data and information from the sample members in the General Authority of Taxes, which number (91) Who are on (M. General Manager, Division Director, Deputy Director, Senior Division Director, Deputy Director, Second Division, Division Officer, M. D

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Publication Date
Sat Nov 26 2022
Journal Name
Journal Of Accounting And Financial Studies ( Jafs )
Measuring the tax gap resulting from the application of the direct deduction method and its reflection on the financial objective of the tax: Applied research in the General Directorate of education in Diyala
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The research aims to shed light on the nature of the tax gap in the income tax by the method of direct deduction and its reflection on the financial objective of the tax, and to determine the reasons for this gap in the deduction between the tax due in accordance with the laws and instructions in force and the tax actually paid. The tax gap is a real problem that cannot be ignored for what it represents loss of financial revenues due to the state.

The research problem is represented in the existence of a gap between the tax due according to direct deduction instructions and the tax actually paid according to the financial statements, and to achieve the objectives of the research and test the hypotheses, t

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Publication Date
Mon Dec 31 2018
Journal Name
Iraqi Journal Of Market Research And Consumer Protection
STUDYING THE EFFECT OF Proteinase K AND α-Amylase ON INHIBITION OF Staphylococcus aureus AND Klebsiella pneumoniae BIOFILM ISOLATE FROM URINARY TRACT INFECTION.: STUDYING THE EFFECT OF Proteinase K AND α-Amylase ON INHIBITION OF Staphylococcus aureus AND Klebsiella pneumoniae BIOFILM ISOLATE FROM URINARY TRACT INFECTION.
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The current study aimed to investigate the viability of biofilm formation klebsilla pneumoniae and Staphylococcus aureus. 440 urine samples were collected from patients suffering from urinary tract infection (UTI) from those who were admitted and visitors to Al-Ramadi Teaching Hospital, Al-Yarmouk Teaching Hospital, Al-Ramadi Teaching Hospital for women and children and , Teaching Laboratories in the Medical City for both genders for a period extended from 5 July, 2017 to 10 October, 2017. Samples were diagnosed by culturing them on a selective media and by biochemical testes , also, diagnosis was ensured by using VITEK-2 compact system. Results showed that K.pneumoniae isolation ratio was 17.1%(68) and S.aureus ratio was 13.1%(52). Thei

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Publication Date
Mon Nov 09 2015
Journal Name
Iraqi Journal Of Market Research And Consumer Protection
The effect of different thermal treatments and pH on the stability of a glycyrrhizin which Product from the licorice plant, Glycyrrhiza glabra L: The effect of different thermal treatments and pH on the stability of a glycyrrhizin which Product from the licorice plant, Glycyrrhiza glabra L
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The plant licorice is considered important plants as nutritionally and medically and economically, as a rich in phytochemical, vitamins and minerals, and being widely available, Research indicated the presence of many nutrients such as (proteins, Carbohydrates, vitamins and minerals) as well as presence of Glycyrrhizin which responsible of sweet taste, that allowing the possibility to use it as natural intensity sweetener with few calories in Sweetening of many food. This research is aimed to study the Stability of Glycyrrhizin toward the various manufacturing conditions such as (thermal treatment, pH of foods and microwaves), so three factorial experiments was implemented to find out the Stability as following: 100C° - 121C° - Microwa

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Publication Date
Sat Dec 01 2012
Journal Name
Iraqi Journal Of Physics
Fabrication of carbon nanopowder by arc discharge technique
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Carbon Nanopowder was fabricated by arc discharge technique at deposition pressure of 10-5 mbar Argon gas on glass substrates. The prepared carbon nano- powder was collected from chamber and purified with nitric acid at 323K .The morphology and crystalline structure of the prepared powder was examined by X-Ray Diffraction (XRD), Atomic Force Microscope (AFM), and Scanning Electron Microscope (SEM). XRD spectrums showed that the powder exhibits amorphous structure and after purification, the powder showed hexagonal structure with a preferential orientation along(002) direction ,where AFM and SEM gave very compatible estimation on the grain size and shape of the nanopowder.

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Publication Date
Thu Jan 01 2015
Journal Name
Journal Of Advances In Mathematics
B-Closed Topological Spaces in Terms of Grills
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The concept of -closedness, a kind of covering property for topological spaces, has already been studied with meticulous care from different angles and via different approaches. In this paper, we continue the said investigation in terms of a different concept viz. grills. The deliberations in the article include certain characterizations and a few necessary conditions for the -closedness of a space, the latter conditions are also shown to be equivalent to -closedness in a - almost regular space. All these and the associated discussions and results are done with grills as the prime supporting tool.

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Publication Date
Wed Feb 20 2019
Journal Name
Political Sciences Journal
The Democracy and the Reconstruction of the Citizenship
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This research includes the principles of the democracy، and to which extent it can contribute in establishing these principles. Democracy is not only to hold parliamentary or presidential elections but also the result of these elections wills it lead to the emergence of an integrated regime that can actually expresses the citizen's rights and to which extent those citizens can contribute in that regime and control it. Since 2005، when the first elections took place in Iraq after the US occupation of Iraq 2003، Iraqi people are looking to a rule that represented them and achieve their interests after getting rid of the totalitarian regimes and establishing an institutional regime that work by democratic means in order to achieve the so

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Publication Date
Fri Jan 05 2024
Journal Name
Al-academy
Problametic of human body in post modern arts
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Explanation of article events , or discribing it establish to anderstanding an phenomenon which its effects still clear in the art , surching like this may be very usful in the analysis of new art , which considering one of the most important turns in the history of art . and if we look to human body in the art as existenc in the art , from it’s begening to the modern age . so we can understand the meaning of this existence and it’s directins which cover all the worid and the lead us to thiories and suggestion’s help in understand to this direction and the effects between our arts and the external directions.

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Publication Date
Fri Jul 05 2013
Journal Name
Pharmacie Globale International Journal Of Comprehensive Pharmacy
SYNTHESIS OF NEW PROPRANOLOL DERIVATIVES AS POSSIBLE PRODRUGS
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Propranolol is a nonselective-adrenergic blocker used in the treatment of hypertension, cardiac arrhythmias, and angina pectoris. A significant problem in propranolol therapy is that it undergoes extensive presystemic metabolism after oral administration leading to reduced bioavailability. In this study, two new propranolol derivatives have been designed, synthesized and characterized. These compounds were formed by acylation of propranolol followed by nucleophilic substitution reaction of acylated propranolol, these derivatives were analyzed for IR, CHN, melting points, and evaluated for their lipophilic properties compared with propranolol. The lower partition coefficient of these two derivatives revealed that the prodrug approach may be

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Publication Date
Mon Jun 01 2020
Journal Name
Journal Of The College Of Languages (jcl)
Criterion of Scientific Translation: Criterios de la traducción
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This research focuses on shedding light on the most important criteria by which the translator can achieve total success with regard to the translation of scientific texts whose written language in Spanish is greatly influenced by expressions and words adopted from the English language and other world languages, in addition to exposing the most outstanding difficulties that translators face when translating from Spanish to Arabic, giving the most appropriate solutions in this regard.

Resumen

El presente trabajo de investigación se centra en echar luz sobre los criterios más importantes por los cuales el traductor puede conseguir el total éxito en la traducción de los textos científicos cuyo lenguaje

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