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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 Dec 01 2016
Journal Name
Journal Of Economics And Administrative Sciences
Employ benchmarking to Appraisal the performance of employees in achieving the total quality of human resources requirements - applied research in the Office of the Inspector General / Martyrs Foundation
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This research aims to determine the role of employee performance evaluation of the achievement of the quality of human resources in the Office of the Inspector General / Martyrs Foundation requirements by employing comparison steps reference with the Office of the Inspector General / Ministry of Higher Education and Scientific Research, has been touching the researchers need the Office of the Inspector General / Martyrs Foundation to apply assess the performance is good for workers and the employment of its outputs to achieve the requirements of the above-mentioned system, and in order to stand on this role we raised the following question President: (is the quality of human resources requirements are achieved through the employm

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Publication Date
Tue Sep 15 2020
Journal Name
Journal Of Baghdad College Of Dentistry
The impact of various staining substances and immersion time on the stainability of bonded sapphire brackets with three kinds of light cure orthodontic adhesives (An in-vitro study)
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Background: The need of the patient for a more reasonable esthetic orthodontic intervention has risen nowadays. Thus, orthodontists make use of esthetic orthodontic materials like brackets, ligature elastics, and arch wires. The esthetic brackets come as different forms of materials, such as ceramic brackets, which have their stainability remaining as the most important consideration for the patients and the orthodontists. This study aimed to compare the staining effects of various staining materials, including black tea, cigarette smoke and Pepsi, as well as the time effect on the color stability of sapphire ceramic brackets bonded with three kinds of light cure orthodontic adhesives: Transbond, Resilience and Enlight. Materials and Met

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Publication Date
Sun Sep 07 2014
Journal Name
Baghdad Science Journal
Organic Content in the Sediments of Tigris and Diyala Rivers, south of Baghdad, and its Relationship with some Environmental factors, Benthic Invertebrates Groups and Values of Diversity Indices
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This study was conducted to detect the relationship between organic content in the sediment of Rivers Tigris and Diyala, at two locations south of Baghdad, with some environmental factors and the benthic invertebrates and values of diversity indices. Monthly samples collected from the area for the period November 2007 to October 2008. Results showed differences in the physical and chemical characteristics of the two sites, Where the annual average in Tigris and Diyala were respectively for: water temperature (19, 20) C°, pH (8, 8), dissolved oxygen (4, 8) mg / l , Biochemical oxygen Demand BOD5 (3,44 ) mg/l, TDS (632,1585) mg / l, TSS (42, 44) mg / l, turbidity (28,74) NTU, and total hardness as CaCO3 (485,823) mg / l ,Sulfat

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Publication Date
Sun Jun 30 2019
Journal Name
Journal Of Accounting And Financial Studies ( Jafs )
Proposed model for the work of audit committees in the public sector and its interaction with the Federal Board of Supreme Audit to reduce the incidents of fraud
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This growing interest of the international scientific specialized commissions is due to the role that the audit committee can play, as one of companies’ governance tools, to increase the accuracy and transparency of the financial information disclosed by the companies, through its oversight role on the process of preparing financial reports, its supervision on the internal audit function within the companies, and supporting its independency, as well as coordinating the efforts between the internal control unites and the external auditor represented by the (Board of Supreme Audit) to clear the observations and irregularities in order to reduce the fraud cases.

This research was built on an applied sample of audit committee works

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Publication Date
Thu Sep 30 2021
Journal Name
Journal Of Economics And Administrative Sciences
The Role of Continuous Improvement Strategy (Kaizen) in organizational innovation: An analytical research in the General Company of Electrical and Electronic Industries /The Ministry of Industry and Minerals
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This paper aims at the fact that most organizations today suffer from a waste of time, effort, and cost, and they have difficulty in achieving the best performance situations and compete strongly. The researcher distributed 108 questionnaires as a statistical analyzable sample society where the sample intentionally consists of general managers, department head, and division head. The questionnaire was formulated according to the Likert scale. The use of personal interviews and observations are additional tools for data collection and a number of statistical methods is used for data analysis such as simple regression and correlation coefficient (Pearson). One of the most prominent conclusions is that the company has adequate and c

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Publication Date
Sun Jun 04 2017
Journal Name
Baghdad Science Journal
The Effect of Variety and Gibberellic acid and Brassinolide and their Interaction on Some of The Chemical Characteristics and Total chlorophyll of the plant Dill Anethum graveolens L.
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The experiment was carried out to study the effect of variety and gibberellic acid in concentration (0 and 50)mg.lat-1 and BL in five concentration (0, 0.50 ,1 ,2 and 3)mg.ltr-1 and their interaction in some chemical Characteristics and total chlorophyll for Dill plant . the experiment designed according Randomized Complete Block Design (RCBD) and three replicates per treatment, compared to the average using less significant difference at the level of probability (0.05) , the results showed the following:- The effect of brassinolide with it,s concentrations led to obtain a significant increase in all the studied characteristics, so the superiority of the concentration of 2 mg.L-1 of brassinolide in each of Ca, Mg,Fe, and total chlorophyll T

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Publication Date
Thu Sep 01 2011
Journal Name
Journal Of Economics And Administrative Sciences
360 degree reverse feedback / comparative analytical study for a sample of managers and heads of departments in the Central Electricity DepartmentAnd the General Directorate of Water and Sewage
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يسعى البحث إلى الاهتمام بإحدى الوظائف المهمة في إدارة الموارد البشرية وهي تقويم الأداء التي تواجه مجموعة من الانتقادات والآراء السلبية، اذ ظهر في الأّونة الأخيرة أنموذج جديد يمكن إن يتجاوز تلك السلبيات وهو أنموذج التغذية العكسية المتعدد المصادر درجة .وقد حاول الباحثان توظيف هذا المفهوم في اثنتين من المنظمات العامة العراقية هما (دائرة كهرباء الوسط) التابعة لوزارة الكهرباء
و (دائرة الماء والمجاري) ال

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Publication Date
Mon Dec 24 2018
Journal Name
Bulletin Of The Iraq Natural History Museum (p-issn: 1017-8678 , E-issn: 2311-9799)
RECORDING OF TWO SPECIES OF THE GENUS DIPARTIELLA (RAABE, 1959) STEIN, 1961 (CLIOPHORA: TRICHODINIDAE) FOR THE FIRST TIME IN IRAQ FROM GILLS OF THE COMMON CARP CYPRINUS CARPIO
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    The examination of gills of the common carp Cyprinus carpio revealed the presence of two species of the family Trichodinidae belonging to the genus Dipartiella (Raabe, 1959) Stein, 1961 namely D. indiana Saha and Bandyopadhyay, 2017 and D. kazubski Mitra and Bandyopadhyay, 2009 for the first time in Iraq from Al-Graiat location on the Tigris River at Baghdad city. This also represents the first record of the genus Dipartiella from fishes of Iraq. The descriptions and measurements of these two parasite species as well as their illustrations were given.

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Publication Date
Wed Dec 25 2019
Journal Name
Separation Science And Technology
Green synthesis of graphene-coated sand (GCS) using low-grade dates for evaluation and modeling of the pH-dependent permeable barrier for remediation of groundwater contaminated with copper
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Publication Date
Sat Oct 01 2016
Journal Name
Journal Of Economics And Administrative Sciences
Diagnosis of the reality of the gap for the requirements of Business Continuity Management System According to International Standard (ISO 22301: 2012) in Midland Refineries Company (Daura Refinery)
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Abstract:

The current research included " Diagnosis of the reality of the gap for the requirements of Business Continuity Management System According to International Standard (ISO 22301: 2012) in Midland Refineries Company (Daura Refinery) " , for development of an administrative system for Business Continuity is considered a priority in the present day, and in the light of the organizations dependence on computers and information technology in work and communication with others . the international legitimacy (represented by the international organization for standardization (ISO)) remains the basis for matching and commitment , and the importance of the application of Business Continuity Management Syst

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