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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 Jan 29 2021
Journal Name
Research Journal Of Pharmacy And Technologythis Link Is Disabled.
Exploration of a new fluoride resistance gene (Fram gene) in oral streptococcus mutans maw
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Publication Date
Sun Jan 01 2023
Journal Name
The Egyptian Journal Of Hospital Medicine
Evaluation of Interleukin-18 Serum Concentration and Gene Polymorphism (Rs1946518) in A Sample of Type-2 Diabetes Mellitus Patients from Iraq.
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Background Type two diabetes (T2DM) is characterized by insufficient insulin production and secretion. Additionally, the body develops insulin resistance which affects 90–95% of diabetics. Complex cytokines, receptors, genetic pathways, and the immune system are involved in T2DM. Interleukin-18 (IL-18) is one of the inflammatory cytokines associated with Type 2 diabetes. Environmental and genetic variables, including genetic polymorphisms, can increase T2DM risk and its consequences. Single nucleotide gene polymorphisms (SNPs) are important risk factors for diabetes that can be used to find the disease early and treat it better. Objective This study aimed to determine the levels of IL-18 in the serum of Iraqi patients with Type 2 diabetes

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Publication Date
Fri Jan 31 2025
Journal Name
Al–bahith Al–a'alami
THE MENTAL PICTURE OF THE HOUSE OF REPRESENTATIVES AMONG THE IRAQI PUBLIC : (SectionII)
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This research is considered as the beginning of other studies about the iraqi the public and their relationship with the various state institutions. Recently, such studies used to be almost non-existent. The main characteristic that distinguishes the scientific studies, is the fact that it involves a specific problem that needs to be studied and analysed from multiple aspects, otherwise the definition of problem identification wouldn’t have been narrowing the topic into what the researcher wants to address, also not what the title is referring to as topics which the researcher doesn’t want to address. The problem in this research resides in the lack of well planned scientific programs that aims at building a positive mental picture a

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Publication Date
Sat Feb 02 2019
Journal Name
Journal Of The College Of Education For Women
content Analysis for Some Type of Pillows used in Iraqi houses
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content Analysis for Some Type of Pillows used in Iraqi houses

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Publication Date
Fri Jun 24 2022
Journal Name
Iraqi Journal Of Science
Detection of Genetic Polymorphism in Iraqi Barley using SSR-PCR Analysis
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Nine Iraqi varieties of barley (Hordeum vulgare L.) has been differentiated and diagnosed using simple sequence repeat markers to detect their genetic polymorphism. Six SSR primers were used for genetic screening of barley samples (IPA 265, IPA 99, Tuwaitha, Hitra, Rayhan, Shuaa, Bawadi, Samir and Al_khair). These primers generated total PCR product (11) bands divided to 8 polymorphic bands 3 monomorphic bands. the percentage of polymorphism 80% ranged between (50-100%). a mean value of polymorphic band per primer was 1.6 . these primers produced amplification fragment at Molecular weight between 75-900 bp. One unique band was generated at size 200bp, this band can be used as a DNA profiling of all studied genotypes. These results appear

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Publication Date
Tue Oct 23 2018
Journal Name
Journal Of Economics And Administrative Sciences
The Role of Financial Analysis in Investors Decisions ( Iraqi Stock Exchange )
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  The research aims to reveal the role of financial analysis in rationalizing the investor decision on the Iraqi stock Exchange market, by studying the relationship and impact techniques and methods of financial analysis on the decisions of investors in the market. The most important techniques and methods discussed in this study were: analysis (financial ratios analysis, comparison of financial statements analysis, cash flow statement analysis) for companies listed in the Iraqi stock Exchange market. The researcher adopted the analytical descriptive method which depends on the collection of data on the phenomenon and its interpretation. The questionnaire wa

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Publication Date
Sat Dec 24 2022
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
The Effect of TNF-Alpha Gene Polymorphisms At -376 G/A, -806 C/T, and -1031 T/C on The Likelihood of Becoming a Non-Responder to Etanercept in A Sample of Iraqi Rheumatoid Arthritis Patients
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Tumor necrosis factor-alpha (TNF-α) antagonists’ therapy are expensive and has a non-responsive rate between 30% to 40% in rheumatoid arthritis patients. Genetic variation plays a vital role in the responsiveness to this type of therapy.The aim of this study is to investigate if the presence of genetic polymorphism in the TNF-α gene promoter region at locations -376 G/A (rs1800750), -806 C/T (rs4248158), and -1031 T/C (rs1799964) affects rheumatoid arthritis patient's tendency to be a non-responder to etanercept.

Eighty RA patients on etanercept (ETN) for at least six months were recruited from the Rheumatology Unit at Baghdad Teaching Hospital. Based on The European League Against Rheumatism response (EULAR) criteria, patient

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Publication Date
Fri Jan 31 2025
Journal Name
Journal Of Baghdad College Of Dentistry
Effect of chemotherapy on oral health status and salivary alkaline phosphatase among leukemic patients
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Background: Leukemia is a broad term given to a group of malignant diseases characterized by diffuse replacement of bone marrow with proliferating leukocyte precursors. Chemotherapy has been increasingly used to treat malignant conditions. The systemic sequelae as a result of these immunosuppressive techniques induce many oral and dental complications. This study was conducted to evaluate the effect of chemotherapy on oral health status and activity of salivary alkaline phosphates enzyme in patients with acute lymphocytic leukemia. Materials and methods: The study groups included 28 patients with acute lymphocytic leukemia; they were under chemotherapy, aged 20-25 year old. The control group includes healthy subjects matching with study

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Publication Date
Fri Jan 31 2025
Journal Name
Journal Of Baghdad College Of Dentistry
An Extrafollicular Cystic Adenomatoid Odontogenic Tumor of the Mandible Associated with Clear Cell Calcifying Epithelial Odontogenic Tumor: A Rare Case Report
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Background: The adenomatoid odontogenic tumor is a relatively rare benign epithelial odontogenic tumor. It contains both epithelial and mesenchymal components. Few cases presented as an extrafollicular lesion or involve the mandible or associated with other odontogenic lesions. This paper represents a rare case of an extrafollicular AOT. Case presentation: A 24-year-old female had a painless swelling on the right side of the lower jaw since one-month duration. Intraorally there was a well defined fluctuant-blue swelling in the right alveolar premolar region measuring 1×2 cm obliterating the right lower buccal vestibule. Grade II mobility in the vital 44 and 45 teeth were observed. Panoramic radiographs showed a well-defined pear shaped

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Publication Date
Sat Nov 05 2022
Journal Name
Resmilitaris
Job Burnout Among Social Workers in Iraqi society: A Social Study
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There are a number of obstacles in the field of work of social workers that prevent them from performing their full role. Their tasks may sometimes be easy and manageable and at other times they may be difficult and complex, however professional roles are mostly the latter, contribute to the feeling of the inability to provide the work required at the level expected by others. In such cases, the relationship binding specialists to their work is affected negatively and this has devastating effects on the professional process as a whole, including their professional practice. This feeling of helplessness and depletion of energy and effort leads to a state of fatigue and emotional exhaustion that can be defined as job burnout, our study aims t

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