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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
Thu Apr 21 2016
Journal Name
Australian Journal Of Basic And Applied Sciences
Sensing Properties of (In2O3:Eu) Thin Films
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Thin films of iridium doped indium oxide (In2O3:Eu)with different doping ratio(0,3,5,7,and 9%) are prepared on glass and single crystal silicon wafer substrates using spray pyrolysis method. The goal of this research is to investigate the effect of doping ratio on of the structural, optical and sensing properties . The structure of the prepared thin films was characterized at room temperature using X-ray diffraction. The results showed that all the undoped and doped (In2O3:Eu)samples are polycrystalline in structure and nearly stoichiometric. UV-visible spectrophotometer in the wavelength range (200-1100nm)was used to determine the optical energy gap and optical constants. The optical transmittance of 83% and the optical band gap of 5.2eV

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Publication Date
Wed Mar 10 2021
Journal Name
Baghdad Science Journal
Synthesis of New Amide and ThioUrease Compounds.
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The reaction of some new Schiff bases ( 2-[(2-Amino – ethylimino)-methyl]-R , 2-({2-[(R-benzylidene)-amino]-ethylimino}-methyl)-R with Benzoyl chloride or Acetyl chloride were carried out. Subsequent reactions of these products N-(2-Amino-ethyl)-N-[Chloro-(R) –methyl]-benzamide or N-(2-{?-[chloro-(R) –methyl]-amino}-ethyl)-N-[chloro-(R) –methyl]- benzamide with thiourea afforded thioureas compounds. The synthesized compounds were confirmed by their IR,UV,spectra and C.H.N. analysis.

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Publication Date
Sun Dec 30 2001
Journal Name
Iraqi Journal Of Chemical And Petroleum Engineering
Deasphaltening and Hydrodesulfurization of Basrah Vacuum Residue
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Publication Date
Sun Jun 01 2014
Journal Name
Baghdad Science Journal
Metabolic Disturbances of Phosphate in Metabolic Syndrome
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Background: Metabolic syndrome MS a cluster of disorders comprising obesity (central and abdominal), dyslipidaemias, glucose intolerance, insulin resistance (or hyperinsulinaemia) and hypertension – is highly predictive of type 2 diabetes mellitus and cardiovascular disease. It should be emphasized that the metabolic syndrome is a syndrome and not a disease. The aim of this study is to evaluate the levels of serum phosphate in different levels in subjects with metabolic syndrome MS and Correlation between serum phosphate levels with metabolic syndrome components. The study was carried out at the National diabetes Center (NDC) /AL-Mustansiryia University ,the period from (Desmber.2011 – May 2012) One hundred forty (140) Iraqi indivi

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Publication Date
Wed Jun 03 2020
Journal Name
Political Sciences Journal
The problem of political change in Algeria
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The article aims to study the crisis of political change  from three Phases . The first focuses on the crises of political legitimacy and democratic postponement, as fundamental issues in analyzing the phenomenon of power struggle through the dialectic between the concept of historical legitimacy and institutional fragility from the beginning of statehood in 1962 to the stage of multi-partyism and the cessation of the electoral process in the 1990s. While the second focuses on the question of the monopoly of power in the post-terrorism and national reconciliation according to considerations  Political, social and security measures to prolong the life of the regime and avoid the demands of political change brought about

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Publication Date
Tue Jan 02 2018
Journal Name
Journal Of Educational And Psychological Researches
The speaking Skill the Children of Kindergartens
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Language is fundamental and important for the development of various skills especially in the kindergarten stage where the child begins to approach others and interact with them linguistically listen to them and make sentences to communicate his ideas to them and without the ability to talk and expression, the child's benefit of his experiences in the kindergarten remains limited.

       And that children at any stage of early education are subject to different stages of linguistic development, and these stages are a fundamental feature in learning, especially for the skills of speaking, listening and reading,  Therefore, the researcher chose the speaking skill the

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Publication Date
Tue Jul 01 2014
Journal Name
Bulletin Of The Iraq Natural History Museum (p-issn: 1017-8678 , E-issn: 2311-9799)
MORPHOLOGICAL AND ANATOMICAL STUDY OF ASPHODELUS MICROCARPUS
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    The genera and species of Liliaceae show a considerable structural diversity of leaves and especially stems. This paper presents a morphological and anatomical study of the leaves and stems of Asphodelus microcarpus. The results showed that the investigated species had typical morphological characters. and also that it could be distinguished from another plant not only by its morphological but anatomical characters as well.

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Publication Date
Mon Jan 16 2023
Journal Name
Iraqi National Journal Of Nursing Specialties
Assessment of Nurses` Practice Regarding Poisoning Children
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Objectives: Assess nurses` practices for children with chemical poisoning, and find out relationship between nurses` socio- demographic data and their practices for children with chemical poisoning.

Methodology: A descriptive correlational design used to achieve the purpose of the study, the study was conducted at Al-Basrah Hospital for Maternal and Children throughout the period 12th of September 2021 to 10th of October 2022. A non- probability sample of (30) nurse at emergency department was selected. The instrument of the study was constructed based on previous literatures that related to study project, which include nurses` socio-demographic data and questionnaire format

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Publication Date
Fri Jun 01 2018
Journal Name
Journal Of Engineering
Derivation of Operation Rule for Ilisu Dam
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Tigris River water that comes from Turkey represents the main water resource of this river in Iraq. The expansion in water river implementations has formed a source of trouble for the workers in the water resources management field in Iraqi. Unfortunately, there is no agreement between Iraq and Turkey till now to share the water of this international river. Consequently, the optimal operation of water resources systems, particularly a multi-objective, multi-reservoir, is of the most necessity at the present time.

 In this research two approaches, were used the dynamic programming (DP) approach and simulation model to find the optimal monthly operation of Ilisu Dam (from an Iraqi point of view) through a comp

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Publication Date
Mon Nov 01 2010
Journal Name
Iraqi Journal Of Physics
Optical properties of lead-bismuth cuprous glasses
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The optical transmission and absorption spectra in UV-VIS were recorded in the wavelength range 350-800 nm for different glass compositions in the system: (CuO)x (PbO)50-x (Bi2O3)50 (x=2.5, 5.0, 7.5, 10.0, 12.5, 15.0, 20.0). Absorption coefficient {α (λ)}, optical energy gap (Eopt), refractive index (n), optical dielectric constant (ε`), Urbach energy (Ee), constant B and ratio of carrier concentration to the effective mass (N/m) have been reported. The effects of compositions of glasses on these parameters have been discussed. It has been indicated that a small compositional modification of the glasses lead to an important change in all the optical properties including non-linear behavior. The optical parameters were found to b

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