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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
Tue Dec 28 2021
Journal Name
The Iraqi Journal Of Veterinary Medicine
Evaluating Expression of the STAG1 Gene as a Potential Breast Cancer Biomarker
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STAG proteins, which are part of the cohesin complex and encoded by the STAG genes, are known as Irr1/Scc3 in yeast and as SA/STAG/stromalin in mammals. There are more variants as there are alternate splice sites, maybe three open reading frames (ORFs) code for three main proteins, including: SA1 (STAG1), SA2 (STAG2) and SA3 (STAG3). The cohesin protein complex has various essential roles in eukaryotic cell biology. This study compared the expression of the STAG1 gene in four different breast cancer cell lines, including: MCF-7, T-47D, MDA-MB-468, and MDA-MB-231 and normal breast tissue. RNA was extracted from these cell lines and mRNA was converted to cDNA, and then expression of the STAG1 gene was quantified by three sets of specific prim

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Publication Date
Mon May 09 2022
Journal Name
مجلة كلية التربية الاساسية الجامعة المستنصرية
Detection of sul1 resistance gene in Acinetobacter baumannii from different Clinical cases
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Publication Date
Sun Dec 16 2012
Journal Name
Journal Of Physical Education
Analysis study for some offensive plans for Iraqi Duhok participated in Asian club in Basketball 2011
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The tactical side in application of offensive plans in basketball did not take a large in scientific research because it always change because it related in mental ability of players and for the condition of the game and researchers notice that from their followed a lot of games for Duhok basketball club in Iraq league. There is a problem that connected in games results it clears in weakness in application of offensive plans in all kind (man to man & zone defense & side ball plans & under basketball and half court). The goal of study concentrate by designing a sheet for som offensive plans for study and analysis to Duhok club on Asian Championship 2011 at the base the sample contained (Iraq Duhok & application science Jordan & Lebanon sport

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Publication Date
Sun Oct 01 2017
Journal Name
Journal Of Economics And Administrative Sciences
Assessing Service Quality using Data Envelopment analysis Case study at the Iraqi Middle East Investment Bank
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The use of data envelopment analysis method helps to improve the performance of organizations in order to exploit their resources efficiently in order to improve the service quality. represented study a problem in need of the Iraqi Middle East Investment Bank to assess the performance of bank branches, according to the service quality provided, Thus, the importance of the study is to contribute using a scientific and systematic method by applying  the data envelopment analysis method in assessing the service quality provided by the bank branches, The study focused on achieving the goal of determining the efficiency of the  services quality provided by the bank branches manner which reflect the extent of utilization of a

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Publication Date
Fri Mar 14 2025
Journal Name
Al-rafidain Journal Of Medical Sciences ( Issn 2789-3219 )
Polycystic Ovary Syndrome and Urinary Tract Stones: A Body Mass Index-Adjusted Analysis in Iraqi Women
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Background: Polycystic ovary syndrome (PCOS) has an unknown and complex etiology. It affects 5–10% of women in the reproductive age. Patients are known to have increased ovarian androgen production that is associated with decreased menses, hirsutism, and acne. Urinary tract stones (UTS) are a multifactorial disorder, with age and sex being known risk factors. Many PCOS patients are obese, and links between nephrolithiasis and obesity have been shown previously. Objectives: To identify the relation between PCOS and UTS considering the patients' body mass index (BMI). Methods: This is a cross-sectional study that enrolled 407 women aged 18-40 who attended the gynecology and obstetrics clinic at Al-Elwiya Maternity Teaching Hospital.

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Publication Date
Mon Nov 19 2018
Journal Name
Journal Of Accounting And Financial Studies ( Jafs )
Study of the impact of foreign direct investment in the Iraqi tax system using the factorial analysis: (principal components)
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The tax system, like any other system, as a set of elements and parts that complement each other and are interrelated and interact to achieve specific goals, and is a natural  reflection of the economic, social and political conditions prevailing in society, and therefore the objectives of tax policy formulated in line with the objectives of economic policy in general, which means that any change in economic policy clearly affects fiscal policy measures and fiscal policy in particular.

The problem of searching for the impact of foreign direct investment in the Iraqi tax system was focused on the study  the of foreign direct investment and therole played in developing and improving the economic reality and its implicatio

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Publication Date
Mon Oct 01 2018
Journal Name
Iraqi Journal Of Physics
Analysis of the absorption spectra in the visible and ultraviolet regions of some medical ointments available in Iraqi markets
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Three types of medical commercial creams Silvazine, Cinolon Tar and Hydroquinon Domina were incorporated in this study. The medical creams were taken directly and placed uniformly on the glass slide. Each type of pharmaceutical was weighed at 1 mg and dispersed on an area of 1x1 cm. This process ensures same thickness for all samples. The creams were analyzed by using double-beam UV/visible spectrophotometer Metertech SP8001. The absorption spectrum for each of samples was measured against wavelength range of 300–700 nm.

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Publication Date
Sun Dec 01 2019
Journal Name
Journal Of Accounting And Financial Studies ( Jafs )
Analysis of actuarial experience and acceptance of individual life insurance: A case study in the Iraqi General Insurance Company
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This research seeks through the adoption of two basic variables, where he considered the actuarial experience as an independent variable, while the process of accepting the risk and dimensions related to it is a dependent variable, the research was adopted to present the data achieved by the company during the life insurance business during the adoption of actuarial experience at the beginning of its work where Adoption of the historical method in the analysis of those data to prove the researcher's opinion, through the analysis of data (5 years) for the first period, which extends between (1975-1979), the period during which the company adopted the actuarial experience at the time, also taken data for the same dimensions related to the

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Publication Date
Mon Mar 13 2017
Journal Name
Journal Of Baghdad College Of Dentistry
Photographic Analysis of Macro- Aand Micro-Aesthetic Appearance in a Sample of Iraqi Adults With Class I Normal Occlusion
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ABSTRACT Background: Generally, the facial esthetics depends on the esthetic appearance of the maxillary anterior teeth. The purposes of this study were to analyse the macro-aesthetic appearance of the face and the micro-aesthetic appearance of the maxillary anterior teeth to establish the normative values for class I normal occlusion and to detect possible gender differences. Materials and methods: The sample consisted of 120 Iraqi adults (60 males and 60 females) aged (18-23) years. Each individual was clinically examined, then with cephalostat based head position, extraoral and intraoral photographs were taken for each subject. The facial and dental measurements were measured using AutoCad program 2014. Descriptive statistics was obtaine

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Publication Date
Thu Dec 01 2016
Journal Name
Karbala Journal Of Medicine
Assessment Of Her-2/Neu Gene Amplification Status by Chromogenic in Situ Hybridization in Breast Cancer Patients with Equivocal 2+ Her-2/Neu Immunostaining and Its Relation to The Clinic Pathological Parameters
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background: human epidermal growth factor receptor-2 (her2/neu) is related to growth factor receptors with alkaline kinase activity and it is regarded as important prognostic and therapeutic factor that can depended on in breast cancer therapy. HER2/neu expression by immunohistochemistry (IHC) is submitted to a great in terob server inconsistency. Subsequently additional confirmatory tests for assessment of gene alterations and amplification status are needed for patients with early or metastatic breast cancer. In situ hybridization techniques and specifically Chromogenic in situ hybridization (CISH) was arise as a practical, cost-effective, and alternative to fluorescent in situ hybridization in testing for gene alterationAims of the study

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