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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
Sat Oct 01 2022
Journal Name
Baghdad Science Journal
Effect of Alstonia Boonei Stem Bark Extracts on the Activity of Liver Maker Enzymes in Rats Induced by Ccl4
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This study investigated the outcome of Alstonia boonei stem bark on liver enzymes after inducing the Wistar albino rats with carbon tetrachloride (CCl4). This effect of plant extract was compared with silymarin – a drug commonly used for the treatment of chronic hepatocyte disorder. The plant sample was extracted with ethanol; acute toxicity study of the extract was performed on eighteen Wistar mice, while 30 rats were sacrificed for liver enzymes assay. The rats were divided into six clusters: each cluster has five rats, culster 1 served as control and was given 2 mL/kg b.w - distilled water; clusters 2 – 6 were CCl4 induced. Cluster 2 was untreated but served as the negative control while cluster 3 wa

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Publication Date
Wed Jun 25 2025
Journal Name
Iraqi Journal Of Pharmaceutical Sciences
Synthesis, Characterization and Anticancer Activity of some Metal Complexes of New Ligand Derived from 4-Methylbenzohydrazide with Computational Studies
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The aim of this research is to prepare a set of complexes with the general formula [M(HMB)n] , where M=VO (II) , Cr(III) and Cu(II) while  n=2,3,2 respectively resulting from the reaction of anew ligand [N'-(2-hydroxy-3-methoxybenzyl)-4-methylbenzohydrazide] (HMB) derived from the reaction of the tow substances (4-methylbenzohydrazide  and 2-hydroxy-3-methoxy benzaldehyde) with metal ions. The prepared compounds were identified by several spectroscopic methods such as Infrared, Nuclear Magnetic Resonance and Electronic Spectra. From the results of the measurements, it was suggested that the prepared complexes have different geometries such as square planar (Cu), square pyramidal (VO) and octahedral (Cr). DFT simulations backed up

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Publication Date
Thu Mar 30 2017
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
In Vitro Effect of Cholesterol and Different Sugars on Digitonin Production in Multiplied Shoots of Digitalis purpurea L. Plant
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Production of  the steroidal saponin digitonin  in multiplied shoots of Digitalis purpurea , (var. Excelsior Mixed) has been achieved in vitro by two experiments. In the experiment 1, shoot tips ( 1cm length ) explants  from the sterilized seedlings were excised and cultured on MS medium ( Murashige and Skoog medium) supplemented with 0.5 mg/L TDZ (thidiazuron) and   cholesterol at the concentrations 0.0, 0.1, 0.3, 0.5, 1.0, 1.5, 2.0 or 4.0 mg/L. After 45 day, results showed that the treatment with 0.5 mg/L TDZ and 2.0mg/L cholesterol had a positive effected on increasing the dry weight of multiplied shoots and their production of digitonin when compared with other treatments, where this treatment gave 2

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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
Mon Jun 05 2023
Journal Name
Journal Of Engineering
Analytical Solution of Transient Heat Conduction through a Hollow Cylindrical Thermal Insulation Material of a Temperature Dependant Thermal Conductivity
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The one-dimensional, cylindrical coordinate, non-linear partial differential equation of transient heat conduction through a hollow cylindrical thermal insulation material of a thermal conductivity temperature dependent property proposed by an available empirical
function is solved analytically using Kirchhoff’s transformation. It is assumed that this insulating material is initially at a uniform temperature. Then, it is suddenly subjected at its inner radius with a step change in temperature. Four thermal insulation materials were selected. An identical analytical solution was achieved when comparing the results of temperature distribution with available analytical solution for the same four case studies that assume a constant the

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Publication Date
Mon Apr 01 2024
Journal Name
Iraqi Journal Of Oil And Gas Research (ijogr)
Comparative study of electrochemical oxidation system hybrid with photocatalytic system for the treatment of Al-Najaf petroleum refinery wastewater
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Publication Date
Tue Feb 19 2019
Journal Name
Heat And Mass Transfer
Mass transfer characteristics of a flow-by fixed bed electrochemical reactor composed of vertical stack stainless steel screens cathode
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Publication Date
Sat Dec 15 2012
Journal Name
International Journal Of Applied Biology And Pharmaceutical Technology
EFFECT OF THE SUPPLEMENTATION OF THE LAYING QUAILS RATION WITHSESAME (SESAMUM INDICUM) SEEDS AND OIL ON EGG QUALITY TRAITS
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The aim of this study was to determine the influence of feeding diets containing different levels of sesame seeds and oil on the egg quality of laying quail. A total of 120, 10 weeks old, were randomly assigned to 1 of 5 dietary groups and fed for 12 weeks diets containing 0% sesame seeds + 0% sesame oil (control group; C) or 0.5% sesame oil (T1), 1% sesame oil (T2), 1% sesame seeds (T3), and 2% sesame seeds (T4).The study was terminated when the birds were 22 weeks of age. Egg quality characteristics involved in the present study were egg weight, yolk diameter, yolk height, yolk weight, albumen height, albumen weight,Haugh unit, shell weight, shell thickness, shell percentage, yolk percentage, and albumen percentage. The addition of sesame

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Publication Date
Sat Apr 01 2023
Journal Name
Biochemical Engineering Journal
Immobilization of mixed cells by Flaxseeds (Linum usitatissimum) extract as new nonconventional biocarrier for biodegradation of sodium dodecyl sulfate
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Publication Date
Tue Aug 01 2023
Journal Name
Journal Of Engineering
The Influence of Waste Plastic Fiber on the Characteristics of Light Weight Concrete with Expanded Polystyrene (EPS) as Aggregate
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This research aims to create lightweight concrete mixtures containing waste from local sources, such as expanded polystyrene (EPS) beads and waste plastic fibers (WPFs), all are cheap or free in the Republic of Iraq and without charge. The modern, rigid, and mechanical properties of LWC were investigated, and the results were evaluated. Three mixtures were made, each with different proportions of plastic fibers (0.4%, 0.8%, 1.2%), in addition to a lightweight concrete mixture containing steak fibers (0.4%, 0.8%, 1.2%), in addition to a lightweight concrete mixture. It contains 20% EPS. The study found that the LWC caused by the addition of WPFs reduced the density (lightweight) of the concrete mixtures because EPS tends

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