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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 Mar 31 2018
Journal Name
Iraqi Journal Of Chemical And Petroleum Engineering
Study of the Performance of Paraffin Wax as a Phase Change Material in Packed Bed Thermal Energy Storage System
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The present work deals with an experimental investigation of charging and discharging processes in thermal storage system using a phase change material PCM. Paraffin wax was used as the PCM which is formed in spherical capsules and packed in a cylindrical packed column which acted as an energy storage system. Air was used as the heat transfer fluid HTF in thermal storage unit. The effect of flow rate and inlet temperature of HTF on the time of charging and discharging process were studied. The results showed that the faster storage of thermal energy can be made by high flow rate of heat transfer fluid HTF and high inlet temperature of heat transfer fluid. It was found that at 65°C HTF inlet temperature, the melting and solidification pr

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Publication Date
Sun Mar 01 2020
Journal Name
Plant Archives
EVALUATION THE ACTIVITY OF SOME MEDICINAL PLANTS EXTRACTS AS PROMOTER ROOTING FOR STEM CUTTINGS OF ROSEMARY (ROSMARINUS OFFICINALIS L.)
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This study was conducted in the botanical garden, Department of biology, College of Science / Mustansiriyah University in spring season, where the starts from (15 February to 15 March, 2019). Under the natural environmental conditions in the greenhouse in order to evaluate the effectiveness of some plant extracts as a promoter for rooting the apical stem cutting of rosemary plants at different concentrations compared with the IBA growth regulator. Plant extracts are Parsley (Petroselinum crispum), Dill (Anethum graveolens) and date palm fruits (Phoenix dactylifera) were used with concentrations (0, 1.25, 2.5 g / l). The IBA concentration was (100 mg / L) with dipping time 24 hour for all treatments. The following measurements were taken aft

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Publication Date
Mon Jan 01 2024
Journal Name
Lecture Notes In Electrical Engineering
A Study of the Influence of Steel Brushes in Rail Surface Magnetic Flux Leakage Detection Using Finite Elements Simulation
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Publication Date
Fri Jan 01 2021
Journal Name
Aip Conf. Proc.
Preparation of nanostructured MnO2/carbon fiber composite electrode for removal of Cu2+ ions from aqueous solution by electrosorption process
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The nanostructured Manganese dioxide/Carbon fiber (CF) composite electrode was prepared galvanostatically using a facile method of anodic electrodeposition by varying the reaction time and MnSO4 concentration of the electrochemical solution. The effects of these parameters on the structures and properties of the prepared electrode were evaluated. For determining the crystal characteristics, morphologies, and topographies of the deposited MnO2 films onto the surfaces of carbon fibers, the X-ray diffraction (XRD), field emission scanning electron microscopy (FESEM), and atomic force microscopy (AFM) techniques were used, respectively. It found that the carbon fibers were coated with γ-MnO2 with a density that increased with increasing the de

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Publication Date
Thu Sep 15 2022
Journal Name
Romanian Neurosurgery
Impact of dome projection on operative steps during clipping of a ruptured pure posteriorly directed posterior communicating artery aneurysms
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Background: Ruptured posterior communicating artery (PCoA) aneurysms are common; they usually present with subarachnoid haemorrhage (SAH) and oculomotor nerve palsy. The aneurysmal dome projection may influence the safety access and aneurysmal neck clipping. Here, we discuss additional intraoperative steps that may be required to widen the surgical field to ensure safe surgical clipping of a rupture pure posteriorly directed PCoA aneurysm. Case description: A previously healthy 38-year-old male reported sudden severe headache and disturbed level of consciousness with a Glasgow coma scale (GCS) of 13. His initial computed tomography (CT) scan of the head showed SAH in the basal cistern. 3D-constructed CT angiography (CTA) revealed a

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Publication Date
Wed Jun 07 2023
Journal Name
Journal Of Educational And Psychological Researches
The Effectiveness of Using the Google Classroom Educational Platform in Teaching Mathematics Curricula from the Teachers' Point of View
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The study aims to find out the effectiveness of using the Google classroom educational platform in teaching mathematics curricula from the viewpoint of teachers in the Governorate of Al Dhahirah, Sultanate of Oman. The researcher adopted the descriptive-analytical approach. To collect the needed data, a questionnaire of two dimensions was used. It includes (13) items to measure the effectiveness of using the Google classroom in teaching mathematics curricula from the teacher's point of view and includes (10) items to measure the difficulties of using the Google classroom in teaching mathematics curricula from the teachers' point of view. These tools were applied to (32) male and (31) female as the study sample. They represent mathematics

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Publication Date
Wed Apr 01 2020
Journal Name
International Journal Of Psychosocial Rehabilitation
The effect of compound exercises in developing front and back stroke skills and some physiological indicators of badminton juniors
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The accuracy of the skillful performance of the front and back dimensions of badminton in volleyball, occurs through the investment of complex exercises (physical skills) in a single performance and its characteristics that give the correct movement behavior and speed to the accuracy of the performance of the strokes as well as the identification of changes in some physiological indicators of By using these compound exercises. The research problem lies: I found a weakness in the accuracy of the performance of the front and back dimensions strike and diagnosed this through the tests that it conducted on the players to identify and know the problem, and attributed this weakness to a weakness in the necessary physical and skill abilities and t

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Publication Date
Tue Dec 01 2020
Journal Name
Journal Of Economics And Administrative Sciences
The effect of liquidity on the profitability and value of banks listed on Iraq stock market (An analytical study)
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  The purpose of the study is to analyze the extent of the impact of liquidity as an independent variable on profitability as an intermediate variable and the value of banks listed in the Iraq Stock Exchange as a dependent variable, as the research problem is summarized by the fact that most banks focus on profitability as a phased goal without focusing on maximizing its value as a strategic goal by enhancing the wealth of owners and shareholders. On the long term, the research community is represented by the banks listed on the Iraq Stock Exchange, while the research sample was deliberately chosen, which included three private banks such as Baghdad Commercial Bank, the Iraqi Commercial Bank and the Iraqi Investment Bank, an

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Publication Date
Wed Dec 01 2010
Journal Name
Bulletin Of The Iraq Natural History Museum (p-issn: 1017-8678 , E-issn: 2311-9799)
CONTRIBUTION TO THE KNOWLEDGE OF THE GENUS CHALCOPHORELLA KERR. 1903(COLEOPTERA: BUPRESTIDAE) IN THE NORTH OF IRAQ (KURDISTAN REGION)
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In this study an illustrated key for the identification of the Iraqi species of the genus Chalcophorella Kerr. is given with information about general distribution for each species. Information is also given about period of collection, plants on which the specimens were collected. The real host plant if they are available and known are also given referring to the previous works.

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Publication Date
Sun May 10 2015
Journal Name
Al-academy
Outstanding aesthetic decoration in the doors of the holy shrines (shrine of Imam Hussein, model): ماهر حسين علي الحبوبي
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The problem of the search (how to employ own aesthetic values sculpture prominent decorations doors in the holy shrines) as research aims to detect these formulas employed in relief sculpture in accordance with the aesthetic values of the decorations that add structure in the form of doors shrines dimensions of functional and aesthetic and expressive By selecting the general system configurations spaces for doors and select the components of the structural configurations decorative prominent types (geometric and floral and linear and composite) as well as identify the techniques adopted in the executive configurations doors at the level of raw materials and processors show. Find and define the beauty of decorative formations prominent of

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