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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 Jun 30 2020
Journal Name
Journal Of Economics And Administrative Sciences
The Impact of the Adoption of IAS.1 on Improving the Qualitative Characteristics Using Financial Indicators - An Applied study
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The international financial accounting and reporting standards IFRS/IAS represent the set of rules and foundations that the economic entity must follow in the measurement, presentation, and disclosure of the elements of the financial statements, the implementation of adopting the international financial reporting standards contributes to improving the qualitative characteristics of accounting information, so the current research aims to explain the role of adopting the International Accounting Standard (IAS) in improving the qualitative characteristics as well as analyzing the impact of the adoption of IAS.1 in improving the qualitative characteristics of accounting information within the financi

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Publication Date
Fri Jan 01 2021
Journal Name
E3s Web Of Conferences
Experimental Investigation of Bearing Capacity of Screw Piles and Excess Porewater Pressure in Soft Clay under Static Axial Loading
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In this study, the behavior of screw piles models with continuous helix was studied by conducting laboratory experimental tests on a single screw pile that has several aspect ratios (L/D) under the influence of static axial compression loads. The screw piles were inserted in a soft soil that has a unit weight of 18.72 kN/m3 and moisture content of 30.19%. Also, the soil has a liquid limit of 55% and a plasticity index of 32%. A physical laboratory model was designed to investigate the ultimate compression capacity of the screw pile and measure the generated porewater pressure during the loading process. The bedding soil was prepared according to the field unit weight and moisture content and the failure load was assumed correspondin

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Publication Date
Sun Jun 03 2012
Journal Name
Baghdad Science Journal
Evaluating the Inhibitory Activity of Apigenin Extracted from Salvia officinalis leaves on the Growth of L20B Cancer Cell Line
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The study aimed to evaluating the inhibitory activity of apigenin extracted from Salvia officinalis leaves on the growth of L20B cancer cell in vitro, and through two incubation periods; 48 and 72 hours. Accordingly, eight concentrations (1.56, 3.13, 6.25, 12.5, 25.0, 50.0, 100.0 and 200.0 micromol) of apigenin and similar concentrations of vitamin C and carbon tetrachloride (CCl4) were tested. The apigenin revealed its significant inhibitory potentials against the growth of L20B cell line, especially at the low concentrations (1.56, 3.13 and 6.25 micromol) and at 72 incubation period in comparison with vitamin C and CCl4.

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Publication Date
Tue Jan 01 2019
Journal Name
Indian Journal Of Public Health Research &amp; Development
Effect of Sponge Cylinder Exercises on The Rubber of Working Muscles to Perform Human Wheel Skill in Technical Gymnastics
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Publication Date
Sun Jun 05 2016
Journal Name
Baghdad Science Journal
A novel online coupling of ion selective electrode with the flow injection system for the determination of vitamin B1
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A simple, fast, selective of a new flow injection analysis method coupled with potentiometric detection was used to determine vitamin B1 in pharmaceutical formulations via the prepared new selective membranes. Two electrodes were constructed for the determination of vitamin B1 based on the ion-pair vitamin B1-phosphotungestic acid (B1-PTA) in a poly (vinyl chloride) supported with a plasticized di-butyl phthalate (DBPH) and di-butyl phosphate (DBP). Applications of these ion selective electrodes for the determination of vitamin B1 in the pharmaceutical preparations for batch and flow injection systems were described. The ion selective membrane exhibited a near-Nernstian slope values 56.88 and 58.53 mV / decade, with the linear dy

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Publication Date
Sun Jun 01 2008
Journal Name
Baghdad Science Journal
The role of annealing temperature on the optical energy gap and Urbach energy of Se:2%Sb thin films
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The optical energy gap(Eopt) and the width of the tails of localized states in the band gap (?E) for Se:2%Sb thin films prepared by thermal co-evaporation method as a function of annealing temperature are studied in the photon energy range ( 1 to 5.4)eV.Se2%Sb film was found to be indirect transition with energy gap of (1.973,2.077, 2.096, 2.17) eV at annealing temperature (295,370,445,520)K respectively. The Eopt and ?E of Se:2%Sb films as a function of annealing temperature showed an increase in Eopt and a decrease in ?E with increasing the annealing temperature. This behavior may be related to structural defects and dangling bonds.

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Publication Date
Wed Jun 24 2020
Journal Name
Systematic Reviews In Pharmacy
Studies on the Photostability of Polystyrene Films with New Metals Complex of 1, 2, 4-triazole-3-thione Derivate
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The new complexes including Cu(II), Co(II), Ni(II), Pt(IV), and Pd(II) metals with 4,4'-(((1E,1'E)-1,4-phenylenebis(methaneylylidene))bis(azaneylylidene))bis(5-(4-chlorophenyl)-4H-1,2,4-triazole-3-thione) have been synthesized of utilizing us polystyrene (PS) photostability. The supplement (0,5 w / v%) was for the production of polystyrene ( PS) in the form of tetrahydrofuran (THF). Polystyrene films were exposing irradiation (250 – 380 nm) absorption light intensity of 6.02 x 10-9 ein dm-3 s-1 at room temperature, through the changes that occur to each of viscosity average molecular weight (Mv), main chain scission (S), degree of polymerization (DPn), weight loss %, hydroxyl index (lOH), carbonyl index (ICo) determined the photo stabiliz

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Publication Date
Sun Jan 01 2023
Journal Name
Technologies And Materials For Renewable Energy, Environment And Sustainability: Tmrees22fr
Preparation and study the partial substitution of aluminum with copper on some physical properties of the compound TlSr2Ca2Cu3O8+δ
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Publication Date
Sun Feb 05 2023
Journal Name
Open Access Macedonian Journal Of Medical Sciences
Past Myocardial Infarctions and Gender Predict the LVEF Regardless of the Status of Coronary Collaterals: An AI-Informed Research
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BACKGROUND: The degree of the development of coronary collaterals is long considered an alternate – that is, a collateral – source of blood supply to an area of the myocardium threatened with vascular ischemia or insufficiency. Hence, the coronary collaterals are beneficial but can also promote harmful (adverse) effects. For instance, the coronary steal effect during the myocardial hyperemia phase and that of restenosis following coronary angioplasty. OBJECTIVES: Our study explores the contribution of coronary collaterals – if any exist – while considering other potential predictors, including demographics and medical history, toward the left ventricular (LV) dysfunction measured through the LV ejection fraction (LVEF). METH

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Publication Date
Thu Dec 26 2019
Journal Name
Bulletin Of The Iraq Natural History Museum (p-issn: 1017-8678 , E-issn: 2311-9799)
RE-DESCRIPTION OF THE LAST INSTAR LARVAE OF CAPNODIS TENEBRIONIS (LINNAEUS, 1760) (COLEOPTERA, BUPRESTIDAE) DEPENDING ON SCANNING ELECTRON MICROSCOPE
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The flat-headed borer, Capnodis tenebrionis  (Linnaeus, 1760) , dispersed extensively in various geographical regions; it is extremely harmful and a dire threat to most stone fruit cultivars, and once the larva enters under the host tree crown, the infested host tree will gradually dry and eventually die. In this study, specimens were collected from several sites in Erbil province, Kurdistan Region- Iraq; then the fully grown larvae were selected for morphological study. In addition, clarification of morphological consequential and implication for most diagnostic characters were studied in all dissected parts. Scanning electron microscope (SEM) was used to further analyze the hidden features of the selected characteristics;

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