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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
Mon May 22 2023
Journal Name
Bangladesh Journal Of Medical Science
Genotyping of Escherichia coli isolated from diarrhea cases in children under five years of age using the PFGE method
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Scopus
Publication Date
Wed Apr 04 2012
Journal Name
The Iraqi Journal Of Veterinary Medicine
Toxicopathological study of aqueous extract of beetle cocoon Larinus maculatus F. on some internal organs in male albino mice
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The present study was carried out to investigate the effect of oral administration of hot aqueous extract of beetle cocoon Larinus maculatus Faldermann, in a two doses 50 and100mg/Kg/Bw for 25 and 45days respect- tively on some organs such as liver, lung, kidney, intestine, heart, spleen, and brain in male mice Mus musculus. The results indicated that there were toxicopathological changes in many tissues of experimental animals. Histo -pathological changes was dose and period dependent . It was found that the aqueous extract of beetle cocoon has undesirable effect at the administered doses, since the raw extract of this cocoon is currently being used in Folk medicine as treatment for cough, bronchitis in Iraq. This study revealed that the l

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Crossref
Publication Date
Tue May 30 2023
Journal Name
Iraqi Journal Of Science
Ground State Structure of Helium and Phosphorus Isotopes using the Radial Wave Functions of Harmonic-Oscillator and Hulthen Potentials
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     The ground state density distributions and electron scattering Coulomb form factors of Helium (4,6,8He) and Phosphorate (27,31P) isotopes are investigated in the framework of nuclear shell model. For stable (4He) and (31P) nuclei, the core and valence parts are studied through Harmonic-oscillator (HO) and Hulthen potentials. Correspondingly, for exotic (6,8He) and (27P) nuclei, the HO potential is applied to the core parts only, while the Hulthen potential is applied to valence parts. The parameters for HO and Hulthen are chosen to reproduce the available experimental size radii for all nuclei under study. Finally, the CO component of electron scattering charge form factors are also investigated. Unfortunately, there is no

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Publication Date
Sun Jun 06 2010
Journal Name
Baghdad Science Journal
Effect of some physical factors (Temperature, light intensity) on ability of algae (Scendesmus quadricauda , Chlorella vulgaris) to remove pollutants
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The study included studying some of the optimum environmental conditions(temperature ,light intensity ) on the production of several green algae Scendesmus quadricauda and Chlorella vulgaris in a selected culture and municipal wastewater . The study also included the recording of growth rate ,doubling time and removal of phosphate and nitrate , maximum rate was recorded to the growth with minimum in doubling time and maximum removal rate of nitrogen-nitrate and phosor- phosphate in each selected culture and municipal wastewater in each species of green algae at 25 C? and a light intensity 380 µ E / m2 / s.

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Publication Date
Thu Nov 13 2025
Journal Name
Journal Of Baghdad College Of Dentistry
Effect of surface treatments and thermocycling on shear bond strength of various artificial teeth with different denture base materials
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Background: Separation and deboning of artificial teeth from denture bases present a major clinical and labortory problem which affect both the patient and the dentist. The optimal bond strength of artificial teeth with denture base reinforced with nanofillers and flexible denture bases and the effect of thermo cycling should be evaluated. This study was conducted to evaluate and compare the shear bond strength of artificial teeth (acrylic and porcelain) with denture bases reinforced by 5% Zirconium oxide nanofillers and flexible bases under the effect of different surface treatments and thermo cycling and comparing the results with conventional water bath cured denture bases. Material and methods: Two types of artificial teeth; acrylic and

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Publication Date
Fri Jan 01 2021
Journal Name
Journal Of Economics And Administrative Sciences
The reality of succession planning Under the retirement law No. (26) of 2019 / Applied research in the medical city
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This research aims to know the reality of succession planning in the researched organization and how it occupies the important jobs in the organization and its readiness for sudden and urgent events that lead to the vacancy of these jobs, and the importance of this research is that it is one of the rare Arab and Iraqi studies and research in this field, as it is one of the first researches It deals with the reality of succession planning in light of the retirement law No. (26) of 2019, and the research problem was the absence of consecutive planning programs and the weak preparation of suitable candidates to face sudden and urgent conditions as replacements for current leaders who occupy the leading and key positions in the depar

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Crossref
Publication Date
Fri Jul 01 2016
Journal Name
Journal Of Engineering
Identificatio n Of Key Factors Affecting Waste Management In Life Cycle Of The Construction Project By Using Delphi Technique
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The problem of generated waste as a result of the implementation of construction projects, has  been aggravated recently because of construction activity experienced by the world, especially Iraq, which is going through a period of reconstruction, where construction waste represents (20-40%) of the total generated waste and has a negative effect on the environment and economic side of the project. In addition, the rate of consumpted  amounts of natural resources are estimated to be about 40% in the construction industry, so it became necessary to reduce waste and to be manage well. This study aims to identify the key factors affecting waste management through the various phases of the project, and this is accom

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Publication Date
Sun Feb 24 2019
Journal Name
Iraqi Journal Of Physics
The effect of triggering on the output performance of diode direct face pumping for disc laser in pulse mode
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The triggering effect for the face pumping of Nd:YVO4 disc medium of 4×5×0.5 mm was investigated using bulk diode laser at different resonator cavity length in pulse mode and at repetition rate of 1.3kHz. The maximum emitted peak power was found to be 100, 82, and 66 mW for resonator lengths of 10, 13.5, and 17.5 cm respectively, while the threshold pumping power was found to be 41mW. The maximum emitted peak power obtained was 300 mW when using external triggering and 10cm length, with repetition of 3Hz.

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Crossref
Publication Date
Wed Jul 01 2015
Journal Name
Journal Of Engineering
A comparative Isothermal and Kinetic Study of the Adsorption of Lead (II) from Solution by Activated Carbon and Bentonite
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This work is aiming to study and compare the removal of lead (II) from simulated wastewater by activated carbon and bentonite as adsorbents with particle size of 0.32-0.5 mm. A mathematical model was applied to describe the mass transfer kinetic.

The batch experiments were carried out to determine the adsorption isotherm constants for each adsorbent, and five isotherm models were tested to choose the best fit model for the experimental data. The pore, surface diffusion coefficients and mass transfer coefficient were found by fitting the experimental data to a theoretical model. Partial differential equations were used to describe the adsorption in the bulk and solid phases. These equations were simplified and the

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Publication Date
Fri Jun 18 2004
Journal Name
Iraqi Journal Of Laser
Effect of Operating Temperature on Performance of Obliquely Deposited Bi, Sb and Bi-Sb Semimetal Thin Film Laser Detectors
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Obliquely deposited (70o) Bi, Sb, and Bi-Sb alloy thin films have been prepared by thermal
resistive technique. Structural properties of these films were studied using XRD. Their resistance and
voltage responsivity for Nd:YAG and CO2 laser pulses have been recorded as function of operating
temperature between 10 oC and 120 oC. It was found that the maximum responsivity for these detectors
can be obtained at 75 oC. On the other hand, the dependence of responsivity on the width of detectors was
investigated.

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