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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 Apr 30 2017
Journal Name
Journal Of Engineering
Experimental Study on Heat Transfer and Friction Factor Characteristics of Single Layer Graphene Based DI-water Nanofluid in a Circular Tube under Laminar Flow and Different Heat Fluxes as Boundary Conditions
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An experimental study was performed to estimate the forced convection heat transfer performance and the pressure drop of a single layer graphene (GNPs) based DI-water nanofluid in a circular tube under a laminar flow and a uniform heat flux boundary conditions. The viscosity and thermal conductivity of nanofluid at weight concentrations of (0.1 to 1 wt%) were measured. The effects of the velocity of flow, heat flux and nanoparticle weight concentrations on the  enhancement of the heat transfer are examined. The Nusselt number of the GNPs nanofluid was enhanced as the heat flux and the velocity of flow rate  increased, and the maximum Nusselt number  ratio (Nu nanofluid/ Nu base fluid)   and thermal performance factor

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Publication Date
Wed Jul 01 2020
Journal Name
International Journal Of Pharmaceutical Research
Synthesis and identification of some new N-substituted quinazoline-4-one, thiazine-4-one and tetrazoline rings incorporating N-ethyl-2-(benzylthio)benzimidazole acetate and study their application as anti-oxidant agent
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Publication Date
Fri Oct 24 2014
Journal Name
Journal Of Chemical And Pharmaceutical Research
Synthesis, characterization and antimicrobial activities of [Fe(II), Co(II), Ni(II),Cu(II) and Zn(II)] mixed ligand complexes schiff base derived from amoxicillin drug and 4-(dimethylamino)benzaldehyde with nicotinamide
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New Schiff base ligand (E)-6-(2-(4-(dimethylamino)benzylideneamino)-2-(4-hydroxyphenyl)acetamido)-3,3- dimethyl-7-oxo-4-thia-1- azabicyclo[3.2.0]heptane-2-carboxylic acid = (HL) was synthesized via condensation of Amoxicillin and 4(dimethylamino)benzaldehyde in methanol. Figure -1 Polydentate mixed ligand complexes were obtained from 1:1:2 molar ratio reactions with metal ions and HL, 2NA on reaction with MCl2 .nH2O salt yields complexes corresponding to the formulas [M(L)(NA)2Cl],where M=Fe(II),Co(II),Ni(II),Cu(II),and Zn(II), A=nicotinamide .

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Publication Date
Sat Oct 01 2022
Journal Name
Baghdad Science Journal
Absorption and Fluorescence Properties of 3,6-bis(5-bromothiophen-2-yl)-2,5-bis(2-ethylhexyl)-2,5-dihydropyrrolo[3,4-c]pyrrole-1,4-dione. A Covalent Fluorescence in Solution and in the Solid State
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In the cuurent article, the photophysical properties of 3,6-bis(5-bromothiophen-2-yl)-2,5-bis(2-ethylhexyl)-2,5-dihydropyrrolo[3,4-c]pyrrole-1,4-dione were investigated. The visible absorption bands at 527, 558 and 362 nm in propylene carbonate and the compound was found to be fluorescent in solution and in the plastic film with emission wavelengths between 550- 750 nm. The Stokes Shift of P.C., acetonitrile, diethyl ether, Tetrahydrofuran THF, cyclohexane, dibutyl ether, and dichloromethane DCM  are 734, 836, 668, 601, 601, 719, and 804 cm-1 in respectively. The Stokes Shift Δ was less in THF and cyclohexane, than the solvents, which indicates that the energy loss is less between the excitation and fluorescence states. The

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Publication Date
Sat Sep 23 2017
Journal Name
Ibn Al-haitham Journal For Pure And Applied Sciences
Synthesis and Characterization of New ligand ' ((2-{1..,[(2-hyd_roxy;..benzyli_dene)-hydrazono]- ethyl} benzen_e-l, 3, s--moll and ItComplexes W·itll. (Mn.(11 Fe(n), Cd<11J, a-nd Hg(n).) Tons
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Publication Date
Sat Apr 19 2025
Journal Name
Journal Of Physical Education
The Effect of Special Exercises Using Handball R.T On Motor Response Development and Some Goalkeeping Skills For Handball Players from the National Center for Gifted In Handball Aged (15 – 16) Years Old
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Publication Date
Fri Oct 01 2010
Journal Name
Analytica Chimica Acta
A reversed phase high performance liquid chromatography method for the determination of fumonisins B1 and B2 in food and feed using monolithic column and positive confirmation by liquid chromatography/tandem mass spectrometry
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The development of a reversed phase high performance liquid chromatography fluorescence method for the determination of the mycotoxins fumonisin B1 and fumonisin B2 by using silica-based monolithic column is described. The samples were first extracted using acetonitrile:water (50:50, v/v) and purified by using a C18 solid phase extraction-based clean-up column. Then, pre-column derivatization for the analyte using ortho-phthaldialdehyde in the presence of 2-mercaptoethanol was carried out. The developed method involved optimization of mobile phase composition using methanol and phosphate buffer, injection volume, temperature and flow rate. The liquid chromatographic separation was performed using a reversed phase Chromolith® RP-18e column

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Publication Date
Mon Oct 04 2923
Journal Name
Journal Of Sustainable Studies
Enantiosemy in a Comparative Aspect: On the Material of Modern Russian and Arabic Languages Энантиосемия в сравнительном аспекте: На материале современного русского и арабского языков التضاد - دراسة مقارنة : اللغات الروسية والعربية الحذيثة أنمورجا
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This work is devoted to a comparative study of the phenomenon of enantiosemy in Russian and Arabic.Everyone knows the term antonyms - words of the same part of speech, opposite in meaning, such as: Day and night, white and black, truth and lies. But in Russian, Arabic and other languages there is an interesting phenomenon, which consists in the fact that one word has two opposite meanings. Such a phenomenon in linguistics is called enantiosemy (from the Greek words enantios - "opposite" and sema - "sign")

Publication Date
Sun Mar 28 2021
Journal Name
Journal Of The College Of Education For Women
The Effectiveness of a Structural Theory- based Training Program in Enhancing Arabic Language Teachers’ Teaching Practices and their Tendencies towards Structural Teaching: مريم بنت حسن البلوشي، ريا بنت سالم المنذري، علي مهدي كاظم
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The study aims to identify the effectiveness of a structural theory-based training program in enhancing the teaching practices of Arabic language teachers teaching grade ten in South Al Batinah in Sultanate of Oman. The study used the quasi-experimental design, and the sample consisted of 40 male and female teachers. To achieve the objectives of the study, a training program, an observation form and a measurement tool of teachers’ tendencies towards a structural teaching were made. The program was implemented with an experimental group of 20 female and male teachers in the first semester of the academic year 2018/2019. The study has found that there is a statistically significant difference between the average grades before and after i

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Publication Date
Tue Jan 01 2019
Journal Name
Inorganica Chimica Acta
Synthesis, characterisation and electrochemistry of eight Fe coordination compounds containing substituted 2-(1-(4-R-phenyl-1H-1,2,3-triazol-4-yl)pyridine ligands, R = CH3, OCH3, COOH, F, Cl, CN, H and CF3.
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Eight different Dichloro(bis{2-[1-(4-R-phenyl)-1H-1,2,3-triazol-4-yl-κN3]pyridine-κN})iron(II) compounds, 2–9, have been synthesised and characterised, where group R=CH3 (L2), OCH3 (L3), COOH (L4), F (L5), Cl (L6), CN (L7), H (L8) and CF3 (L9). The single crystal X-ray structure was determined for the L3 which was complemented with Density Functional Theory calculations for all complexes. The structure exhibits a distorted octahedral geometry, with the two triazole ligands coordinated to the iron centre positioned in the equatorial plane and the two chloro atoms in the axial positions. The values of the FeII/III redox couple, observed at ca. −0.3 V versus Fc/ Fc+ for complexes 2–9, varied over a very small potential range of 0.05 V.

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