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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 Mar 01 2024
Journal Name
Baghdad Science Journal
The Association between Single Nucleotide Polymorphisms rs1042522 and rs1642785 in the TP53 gene and Acute Myeloid leukemia in a sample of the Baghdad/ Iraq population
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Acute myeloid leukemia (AML) represents the most prevalent type of acute leukemia in adults and is responsible for approximately 80% of all cases. The tumor suppressor gene (TP53) is a gene that has been frequently studied in cancer, and mutations in this gene account for about 50% of human cancers. This study aims to evaluate the correlation between two single nucleotide polymorphisms (SNPs) in the gene: rs1042522 and rs1642785, and a group of Iraqi patients suffering from pre-diagnostic acute myeloid leukemia (AML). Blood samples were collected from sixty patients (26 males and 34 females) and sixty controls (26 males and 34 females); these subjects were matched in gender, age, and ethnicity. Genomic DNA has been extracted fro

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Publication Date
Fri Jan 01 2021
Journal Name
International Journal Of Agricultural And Statistical Sciences
CUSTOM ANALYSIS THROUGH Nth ORDER GAUSSIAN NOISE
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Publication Date
Fri May 14 2021
Journal Name
Open Access Macedonian Journal Of Medical Sciences
Semen Analysis and Insight into Male Infertility
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Objectives: Semen analysis is the cornerstone for the valuation of the male partner in the infertile couples. This test has been standardized throughout the world through the World Health Organization (WHO) since the1970s by producing, editing, updating, and disseminating a semen analysis manual and guidelines. A retrospective study to give an insight about  male infertility. Methods: This retrospective study assessed the semen findings of 1000 men evaluated at the  Department of Urology, Al-Kindy Teaching Hospital in Baghdad-Iraq  between January 2016 and May 2019. Semen analysis were done for them. Results: According to WHO standard for semen normality, 1000 samples that were analyzed, normospermia was shown in 835 (83.5%)males

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Publication Date
Sun Feb 10 2019
Journal Name
Journal Of The College Of Education For Women
Education Development in Local Community Analysis Study
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Human resources are considered as strategic fortune for being the main driver of the development wheel in the society, and the field of education and learning is one of the main pillars of this fortune for its great effect in the process of economic and social progress of individuals. I was the subject of education to the concerns of many countries, as adopted national policies . And regional support and the reduction of constraints, so came our study (education hub for human development) to identify the role of education in human development and to identify the obstacles facing the education process and the extent of its impacts negatively on the process of human development also contribute to the knowledge of school enrollment and the

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Publication Date
Sat Sep 01 2012
Journal Name
Journal Of Economics And Administrative Sciences
Multi-level analysis applications in business studies
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The current research aims to provide a conceptual and applied frame  on the subject of multi- level analysis in the research of business administration. The research tries to address some of the problems that befall the preparation of research and studies at the Arab level and local level, where the unity of theory and measurement and analysis, as well as clarify  the various types of conceptual constructs and give researchers the ability to  distinguish different models related to the level of analysis. On the other hand, this research  provides an example of 

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Publication Date
Sat Jan 01 2011
Journal Name
Journal Of Engineering
CONSTRUCTION DELAY ANALYSIS USING DAILY WINDOWS TECHNIQUE
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Delays occur commonly in construction projects. Assessing the impact of delay is sometimes a contentious
issue. Several delay analysis methods are available but no one method can be universally used over another in
all situations. The selection of the proper analysis method depends upon a variety of factors including
information available, time of analysis, capabilities of the methodology, and time, funds and effort allocated to the analysis. This paper presents computerized schedule analysis programmed that use daily windows analysis method as it recognized one of the most credible methods, and it is one of the few techniques much more likely to be accepted by courts than any other method. A simple case study has been implement

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Publication Date
Wed Jun 07 2023
Journal Name
Journal Of Educational And Psychological Researches
Selective Visual Attention among Students of Colleges of Education At The University Of Mosul
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The research aims to identify the level of selective visual attention among students of the faculties of education at the University of Mosul. To achieve the goal of the research, the researchers chose a stratified random sample of students from the faculties of education at the University of Mosul for the academic year (2020-2021). The sample size was (652) students from the scientific and humanitarian specializations, the second and fourth stages. The researchers developed a test of multiple-choice to measure the selective visual attention, which consisted of (42) items. The results revealed that the students of the faculties of education for human sciences have an appropriate level of selective visual attention. There are statisticall

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Publication Date
Sat Apr 25 2020
Journal Name
Indian Journal Of Forensic Medicine &amp; Toxicology
Production, Analysis and Optimization of Inulin Produced from Pseudomonas fluorescens
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Publication Date
Fri Jul 21 2023
Journal Name
Journal Of Engineering
GENERATION AND TOOTH CONTACT ANALYSIS (TCA) OF HYPOID GEAR DRIVE
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The present work covers the Face-Hobbing method for generation and simulation of meshing of Face hobbed hypoid gear drive. In this work the generation process of hobbed hypoid gear has been achieved by determination of the generation function of blade cutter. The teeth surfaces have been drawn depending on the simulation of the cutting process and the head cutter motion. Tooth contact analysis (TCA) of such gear drive is presented to evaluate analytically the transmission error function for concave and convex tooth side due to misalignment errors. TCA results show that the gear is very sensitive to misalignment errors and
the increasing of the gear teeth number decrease the transmission error for both concave and convex tooth sides a

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Publication Date
Fri Mar 30 2018
Journal Name
International Journal Of Multimedia And Image Processing
The Design of a Multimedia-Forensic Analysis Tool (M-FAT)
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Digital forensics has become a fundamental requirement for law enforcement due to the growing volume of cyber and computer-assisted crime. Whilst existing commercial tools have traditionally focused upon string-based analyses (e.g., regular expressions, keywords), less effort has been placed towards the development of multimedia-based analyses. Within the research community, more focus has been attributed to the analysis of multimedia content; they tend to focus upon highly specialised specific scenarios such as tattoo identification, number plate recognition, suspect face recognition and manual annotation of images. Given the ever-increasing volume of multimedia content, it is essential that a holistic Multimedia-Forensic Analysis Tool (M-

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