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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 Nov 02 2023
Journal Name
Journal Of Engineering
An Overview of How the Petrophysical Properties of Rock Influenced After Being Exposed to Cryogenic Fluid
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Exposure to cryogenic liquids can significantly impact the petrophysical properties of rock, affecting its density, porosity, permeability, and elastic properties. These effects can have important implications for various applications, including oil and gas production and carbon sequestration. Cryogenic liquid fracturing is a promising alternative to traditional hydraulic fracturing for exploiting unconventional oil and gas resources and geothermal energy. This technology offers several advantages over traditional hydraulic fracturing, including reduced water consumption, reduced formation damage, and a reduced risk of flow-back fluid contamination. In this study, an updated review of recent studies demonstrates how the

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Publication Date
Wed Mar 30 2022
Journal Name
Iraqi Journal Of Science
Effect of Fe-Doping on the Properties of CdO Thin Films Prepared by Pulsed Laser Deposition
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     Pure and iron-doped cadmium oxide ((CdO)1-xFex) thin films at different ratios were prepared using  pulsed laser deposition technique. The X-ray diffraction showed a polycrystalline structure for all samples associated with cubic CdO structure. Another phase appeared at the highest ratio corresponding to the cubic Fe phase. Crystallinity was enhanced and crystalline size increased with increasing Fe ratio. AFM measurements showed that increase of  Fe ratio led to an increase in the average particle diameter. In addition, the distribution of particle size became wide and of irregular behaviour, as well as increasing of the average roughness and the root-mean-square roughness. Increasing the Fe ratio caused

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Publication Date
Sun Sep 06 2009
Journal Name
Baghdad Science Journal
The effect of site of origin on fatty acid percent in sunflower oil (Helianthus annuus L)
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A Laboratory study was conducted in quality control department ,state company for food stuff trading ministry of trade (2005-2006) on sunflower oil imported to Iraq from different origins included 12 trade marks, Complete random design was used with four replication .The purpose of the study is to know the origins effect on fatty acid percent and study the simple correlation between them, the result showed Turkish origin for trademark (Narin) was superior in Palmitic and Stearic fatty acid (10.41,3.29%).While Omanian origin for trademark Alsafwa was superior in Oleic(35.09%) and Syrian origin for trade mark Alnahraen was superior in Linoleic fatty acid percent 66.53% whereas Egyptian origin for trademark Alasel was superior in the percent

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Publication Date
Mon Mar 23 2020
Journal Name
Journal Of Engineering
The Effect of Nano Materials on Lost Circulation Control of Azkand Formation in Khabaz Oil Field
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Experimental tests were carried to control lost circulation in the Khabaz oil field using different types of LCMs including Nano-materials. A closed-loop circulation system was built to simulate the process of lost circulation into formations. Two dolomite plugs were used from different depths of the formation of Azkand in Khabaz oil field. The experimentations were carried out to study the effect of different types of LCMs, cross-linked copolymer (FLOSORB CE 300 S), SiO2 NP, and Fe2O3 NP, on mud volume losses as a function of time.

The rheological measurements of the nanoparticles-reference mud system showed that both of the SiO2 NP and Fe2O3 NP w

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Publication Date
Sun Dec 01 2019
Journal Name
Al-khwarizmi Engineering Journal
Modeling of Bending Properties of Stainless Steel 304 Sheets Welded by Tungsten Inert Gas Welding Process
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In this research, the effects of both current and argon gas pressure on the bending properties of welded joints were studied. Using the possible ranges of welding gas pressures and currents, Tungsten inert gas welding (TIG) of stainless steel (304) sheet was used to obtain their influence on the maximum bending force of the (TIG) welded joints. Design of experiment (DOE) ‘version 10' was used to determine the design matrix of experiments depending on the used levels of the input factors. Response surface methodology (RSM) technique was used to obtain an empirical mathematical model for the maximum bending force as a function of welding parameters (Current and Argon gas pressure). Also, the analysis of variance (ANOVA) was used to verif

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Publication Date
Thu Dec 01 2011
Journal Name
Journal Of Engineering
EFFECT OF TOOL SHOULDER DIAMETER ON THE MECHANICAL PROPERTIES OF 1200 ALUMINUM FRICTION STIR SPOT WELDING
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A friction stir spot welding (FSSW) process is an emerging solid state joining process in which the material that is being welded does not melt. In this investigation an attempt has been made to understand the effect of tool shoulder diameter on the mechanical properties of the joint. For this purpose four welding tools diameter (10,13, 16 and 19) mm at constant preheating time and plunging time were used to carry
out welding process. Effect of tool diameter on mechanical properties of welded joints was investigated using shear stress test and Microhardness of joint which welded was studied. Based on the stir welding experiments conducted in this study the results show that aluminum alloy (1200) can be welded using (FSSW) process with

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Publication Date
Sun Jul 02 2023
Journal Name
Iraqi Journal Of Science
Determination of Uranium Concentration in Soil of Baghdad Governorate and its Effect on Mitotic Index Assay
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The aim of this work is to determine the uranium concentration in soil samples
taken from the north, south, east, west and center of the city of Baghdad and
measure its impact on the rate of cell division for non-smokers peoples and living in
those areas and that between the ages 25-30 year.
The uranium concentration in the samples determined by using CR-39 track
detector . As calculated for the ten samples of each site when irradiated by thermal
neutrons from the (Am - Be) source with flux (5x 103 n S-1cm-2), the concentration
values were calculated by a comparison with standard geological samples. The
results indicate that the extent of the concentration of uranium in the soil north and
east of Baghdad was 12

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Publication Date
Sat Aug 21 2021
Journal Name
Engineering, Technology &amp; Applied Science Research
The Impact of Hybrid Fibers on Punching Shear Strength of Concrete Flat Plates Exposed to Fire
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This study presents an investigation about the effect of fire flame on the punching shear strength of hybrid fiber reinforced concrete flat plates. The main considered parameters are the fiber type (steel or glass) and the burning steady-state temperatures (500 and 600°C). A total of 9 half-scale flat plate specimens of dimensions 1500mm×1500mm×100mm and 1.5% fiber volume fraction were cast and divided into 3 groups. Each group consisted of 3 specimens that were identical to those in the other groups. The specimens of the second and the third groups were subjected to fire flame influence for 1 hour and steady-state temperature of 500 and 600°C respectively. Regarding the cooling process, water sprinkling was applied directly aft

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Publication Date
Sun Sep 15 2019
Journal Name
Al-academy
The Pleasure of Fear and the Temptation of the Thriller in Horror Cinema: كــاظــم مــؤنـــس عزيز
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In the theory of cinema genre, horror films are at the forefront of the list. It is one of the oldest genres that saw the light with the early emergence of cinema, taking advantage of literary works, especially Gothic literature and it continues to this day, but the third millennium has seen a marked increase in the number of films and recipients alike. There were many types within the same genre and there are many authors and varied topics, all seeking to spread terror and panic and fear in the hearts of viewers who are passionate about the type of horror. Although the fear and horror have been, throughout the ages, a challenge to the psychological balance and stability, as well as being a rejection and an opposition to the aesthetic ta

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Publication Date
Wed Sep 14 2016
Journal Name
Journal Of Baghdad College Of Dentistry
The Efficacy of Polidocanol foam Sclerotherapy in Treatment of Infantile Hemangioma and Slow-Flow Vascular Malformation
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Background: Sclerotherapy is a simple treatment modality for treatment of infantile hemangioma and slow-flow vascular malformations; Polidocanol is a mild sclerosing agent that is traditionally used in treatment of varicose veins. This study aims to evaluate the effectiveness, treatment outcome, and complications of polidocanol foam sclerotherapy for infantile hemangioma and slow-flow vascular malformations. Materials and methods: Between March 2013 and December 2014, seventeen patients with infantile hemangioma and slow-flow vascular malformations treated with polidocanol 1% foam sclerotherapy. Foam was prepared by Tessari’s method. Injection performed under general or local anesthesia, injections were repeated (if necessary) on mon

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