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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 Nov 02 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
Validity of Testicular Biopsy Among Azoospermic Patients Prior to Intracytoplasmic Sperm Injection
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Objective: To evaluate the clinical significance of open diagnostic testicular biopsy as prognostic predictor of
successful sperm retrieval among azoospermic infertile patients.
Design: Prospective study.
Setting: Infertility clinic and assisted reproduction unit at the institute of embryo research and infertility
treatment, Baghdad University.
Patients: Sixty infertile azoospermic patients.
Intervention: Pieces of testicular tissue taking during open diagnostic multiple bilateral testicular biopsies was
prepared for histological examination and grouped according to well-defined histopathological patterns.
Measurement of testicular size and serum reproductive hormones (FSH, LH, Testosterone, and PRL) were done

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Publication Date
Thu Aug 10 2023
Journal Name
Journal For Re Attach Therapy And Developmental Diversities
Challenges of Developing Communicative Competence among Iraqi EFL Undergraduate Student
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Research in the field of English language as a foreign language (EFL) has been consistently highlighted the need for communicative competence skills among students. Accompanied by the validated positive impact of technologies on students’ skills’, this study aims to explore the strategies used by EFL students in enhancing their communicative competence using digital platforms and identify the factors of developing communicative competence using digital platforms (linguistic factors, environmental factors, psychological factors, and university-related factors). The mixed-method research design was utilized to obtain data from Iraqi undergraduate EFL students. The study was conducted in the Iraqi University in Baghdad Iraq. EFL undergradu

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Publication Date
Tue May 01 2018
Journal Name
Journal Of Craniofacial Surgery
The First Patient Report of Tongue Abscess Among Iraqi Population
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Publication Date
Sun Sep 04 2016
Journal Name
Baghdad Science Journal
Study of the Immunological Status of Iraqi Vitiligo Patients
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Vitiligo is an acquired idiopathic skin disorder characterized by depigmented macules due to loss of cutaneous melanocytes. A potential role of the immune dysfunction has been suggested in vitiligo, so to test this hypothesis, certain cytokines (IL-17A and TNF-?) and immunoglobulins (IgM, IgG, IgA and total IgE) were investigated in all participants. The study included: 60 patients with age range between (6-55) year; 30(11 males and 19 females) were untreated and 30(12 males and 18 females) were treated with Narrow Band Ultraviolet-B (NB-UVB) and 30 (14 males and 16 females) apparently healthy control. Serum was separated and cytokines (IL-17A and TNF-?) and total immunoglobulin E (IgE) were detected by using Enzyme Linked Immunosorbent Ass

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Publication Date
Tue Jun 30 2009
Journal Name
Al-kindy College Medical Journal
Serum Zinc in Iraqi Acute Leukemic Patients
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Background: Leukemia is a group of malignant disorders
associated with increased numbers of blood white blood
cells. Acute leukemia occurs at all ages. Because zinc
influences many body systems and functions, zinc is an
essential nutrient for tissue growth, cellular division,
protein synthesis DNA and RNA replication it also ought to
play a critical role in the growth of tumor. In this study,
serum zinc was estimated in leukemic patients and
compared with healthy subjects.
Methods: The subjects in the present study were; fourtyfour depressed patients aged (14-48 year), thirty-one
apparently healthy subjects were selected as control group.
Their sex and age were comparable to that of patients.
Determin

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Publication Date
Sun Nov 01 2015
Journal Name
Journal Of Cosmetics, Dermatological Sciences And Applications
The major psychocutaneous disorders in Iraqi patients
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KE Sharquie, AA Noaimi, MS Younis, BS Al-Sultani, Journal of Cosmetics, Dermatological Sciences and Applications, 2015 - Cited by 8

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Publication Date
Sun May 10 2020
Journal Name
Baghdad Science Journal
Lack of Association between LCS6 Variant in KRAS Gene with the Occurrence of Breast Tumors in Iraqi Women
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Breast cancer is the most commonly diagnosed cancer and remains one of the main reasons of cancer-related mortality in women worldwide. KRAS variant rs61764370 (T>G) is associated with an increased risk of occurrence of many cancers, Here The case-control study was accomplished on 135 women including 45 women with breast cancer patients, 45 women with benign breast lesions and 45 healthy women to analyze the association of KRAS variant rs (61764370 T>G) with breast cancer. LCS 6 variant in KRAS gene was amplified by using specific primers, then genotype was detected after sequencing the PCR products. The results showed that the genotype and allele frequency of TT and GT allele of  KRAS

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Publication Date
Wed Jan 01 2020
Journal Name
Indian Journal Of Public Health Research &amp; Development
Association of Exon Deletion of MXI1 Gene with Cervical Abnormalities and Cancers Incidence in Some Iraqi Married Women
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ervical cancer is one of the most frequently diag nosed malignancies representing the fourth leading cause of cancer-related death in females’ worldwide, with approximately 500,000 new cases diagnosed and 280,000 deaths occurring each year. Mxi1, an antagonist of c-Myc, maps to human chromosome 10q24-q25, a region altered in a substantial fraction of prostate tumors, in prostate cancer, where a high frequency of loss and mutation of the MXI1 gene has been reported. The aim of present study was to find out the possible association of exon deletion of MXI1 gene with incidence of cervical abnormalities and cancers in some Iraqi married women. The present study include collection of 120 scraping cervical cells samples from women clinically di

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Publication Date
Fri Jun 02 2017
Journal Name
International Journal Of Medical Research & Health Sciences
Analysis of HLA-DQB1 Alleles Frequency in Patients with Chronic Periodontitis
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Publication Date
Fri Nov 10 2017
Journal Name
Al–bahith Al–a'alami
Role of the Iraqi Media Organizations in Promoting The Sense of Citizenship among Iraqi University Youth
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    This study examines the role played by the Iraqi media in promoting the values ​​of citizenship and the dimensions of the various sectors of Iraqi society, an important segment namely university youth section.
 The study intended to identify “the role of the Iraqi media organizations in promoting The sense of citizenship among young Iraqi university”, through: -
1. Identifying the most important Iraqi media, which works to promote the dimensions of citizenship and values.
2. To identify the extent of the contribution of the Iraqi media in promoting citizenship in dimensions (patriotic belonging, legal, political, economic, social, cultural).
The study provided a set of hypotheses, namely:-

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