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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
Fri Jun 30 2006
Journal Name
Al-kindy College Medical Journal
The Use of Spiral Computerized Tomography in the Diagnosis of Middle –Third Facial Fractures as Compared to Plain Radiography
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Background: Trauma is one of the most common
clinical problems that confront the maxillofacial
surgeon and radiologist alike. Middle third facial
fractures are diagnosed primarily on the bases of
clinical examination and plain radiographs than can
result in much preoperative speculation.
Objective: To assess the advantages of spiral
computerized tomography over conventional
radiography in the pre-surgical evaluation of middle
third facial fractures.
Methods: Thirty patients with thirty-eight facial
fractures were studied, all patients were examined
clinically, by plain radiography and then by spiral CT.
Results: Of the 38 middle-third fractures, 16
(42.1%) were zygomatic fractures, 8 (21.1%) were

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Publication Date
Thu Nov 13 2025
Journal Name
Journal Of The College Of Languages
Семантический Анализ Глаголов Деструкции Русского Языка В Современной Лингвистике Semantics of the Russian Verbs of Destruction in Contemporary Linguistics
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Publication Date
Thu Jun 20 2019
Journal Name
Baghdad Science Journal
The Influence of Rewards on Games Flow, Challenge, and Its Effects Towards the Engagement of Malaysian Digital Traditional Games
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Games engagement has become one of the main concerns in game industry. Early study revealed that Malaysian digital traditional games are suffering with the same issue due to several factors. One of it is the lack of the game itself. Although many Malaysian traditional games have been digitized, none of them has incorporated rewards despite its importance in games engagement. Realizing the importance of rewards in games engagement, one of Malaysian traditional Congkak has been chosen to be enhanced by incorporating rewards. Experiments have been conducted among 50 gamers among the Millennials. Prior interview, game demo and human test are conducted. Experiments focused on the influence of rewards on games flow, games challenge, and its ef

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Publication Date
Tue Jan 11 2022
Journal Name
Journal Of Research In Medical And Dental Science | Vol. 10 | Issue 1 | January-2022
Esthetic Improvements of Various Degrees of White Spot Lesion Using Resin Infiltration and Micro-Abrasion (An In Vitro Study)
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Background: White spot lesions are esthetic problems caused by subsurface enamel demineralization that seen as white opacity. Aim of the study: This study aimed to evaluate and to compare the color change after the treatment of the white spot lesions with resin ‹nϔ‹Žtrƒt‹on and micro abrasion. Materials and Methods: rt‹ϔ‹…‹ƒŽ white spot lesions were generated on 48 premolar teeth by the use of a demineralization solution. The teeth were randomly divided using the Diagnodent into three study groups (16 teeth for each group) depending on the depth of the induced lesions: outer enamel, inner enamel and outer dentine. Then each group was fatherly subdivided into two groups (8 teeth for each group) the ϔ‹rst group was treated wit

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Publication Date
Thu Nov 13 2025
Journal Name
Journal Of Baghdad College Of Dentistry
Effect of orthodontic tooth movement on salivary levels of Interleukin-1beta, Tumor Necrosis Factor-alpha, and C- reactive protein
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Background: Orthodontic force is considered to stimulate cells in the periodontium to release many mediators such as cytokines which play a responsible role for periodontal and alveolar bone remodeling, bone resorption and new bone deposition. Aim of this study was carried out to estimate changes of the (interleukin-one beta, tumor necrosis factor – alpha and C-reactive protein) levels in unstimulated whole saliva during the leveling stage of orthodontic tooth movement. Materials and methods: The sample consisted of thirty adult patients (12 males and 18 females) with ages ranges (19-23) years. Each sample had Class I and Class II malocclusion dental classification and required bilateral extraction of their maxillary first premolars, und

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Publication Date
Thu Aug 24 2023
Journal Name
Migration Letters
The Effect of Electronic Educational Games on the Information Generation Skills of the First Intermediate Grade Students in Mathematics
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Publication Date
Wed Sep 01 2010
Journal Name
Materials &amp; Design
Influence of glass addition and sintering temperature on the structure, mechanical properties and dielectric strength of high-voltage insulators
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Publication Date
Thu Jan 31 2019
Journal Name
Journal Of Accounting And Financial Studies ( Jafs )
Strategic Management of Cost of Production Operations In the 0il Fields: بحث تطبيقي في شركة نفط الوسط (شركة عامة)
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The use of the entrance diffraction hexagon continuous improvement of operations in order to achieve the rationalization of activities, costs and efficiency in the use of available resources and reduce the incidence of damage and waste and recycling, as the accounting information system does not meet the surface production processes oil fields cost management requirements in the measurement and evaluation of the costs of each activity and development of indicators to evaluate the efficiency and effectiveness of production processes and to cover the shortcomings of currently approved by the company so cost accounting system has Find addressed the use of strategic cost management techniques, including the entrance diffraction hexagon for c

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Publication Date
Mon Nov 30 2020
Journal Name
Journal Of Economics And Administrative Sciences
The Role of Effective Leadership in Application of E-Human Resources Management System Applied research at Baghdad International Airport
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The research acquires its importance by motivating the behavioural side of the employees to apply modern technology in the work, because of its great importance in increasing the efficiency of employees’ performance and excellence. The research was based on two main hypotheses to show the relationship and impact between the variables through the adoption of a questionnaire to collect data and information related to the research, which consisted of (50) people from administrators working at different levels, based on personal interviews and field visits to collect research data. The data collection process was subjected to statistical analysis using the statistical program (SPSS) (Statistical package for social science) to reach

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Publication Date
Sun Oct 15 2023
Journal Name
Bionatura
Effect of Partial Drip Irrigation Methods on Soil Moisture and Water Potential Distribution, Growth Characteristics and Yield of Maize
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A field experiment was conducted during the autumn of 2021 at the Agricultural Research Department station / Abu Ghraib to evaluate the soil moisture, water potential distribution, and growth factors of maize crops under alternating and constant partial drip irrigation methods. In the experiment, two irrigation systems were used, surface drip irrigation (DI) and subsurface irrigation (SD); under each irrigation system, five irrigation methods were: conventional irrigation (CI), and 75 and 50% of the amount of water of CI of each of the alternating partial irrigation APRI75 and APRI50 and the constant partial irrigation FPRI75 and FPRI50 respectively. The results showed that the water depth for conventional irrigation (C1) was 658.3

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