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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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Fri Mar 28 2008
Journal Name
Ama, Agricultural Mechanization In Asia, Africa & Latin America
The Effect of Two Type of Plows With Four Speeds on the Field Capacity and Bulk Density
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Publication Date
Thu Jan 22 2015
Journal Name
مجلة التربية الاساسية
Synthesis and Characterization of Some New Heterocyclic Compounds Via Unsaturated Ketone with Evaluating of Their biological Activity
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Publication Date
Wed Jan 01 2014
Journal Name
Phd Thesis
Development of fore and hind limbs bone of guinea pig (Cavia Cutleri) during pre and postnatal period
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APFS Mohammed, 2014

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Publication Date
Sun Jan 02 2022
Journal Name
Neuroquantology
Treatment of primary trigeminal neuralgia: A comparative study of microvascular decompression surgery and stereotactic gamma knife radiosurgery
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Objectives To compare the clinical efficacy of microvascular decompression surgery (MVD) and gamma knife radiosurgery (GKR) as a treatment for patients with primary trigeminal neuralgia (TN) and evaluate the outcome regarding pain relief, recurrence, and complications with both modalities of treatment. Patients and Methods A randomized prospective study conducted in SaadAlwitry Neurosciences Hospital, Baghdad, Iraq. Eighty-four patients with TN from January 2016 to January 2018, 45 patients had GKR while 39 patients treated with MVD. The pain evaluated pre-and post-operatively using the Barrow Neurological Institute Pain Intensity scale (BNIPI), visual analog scale (VAS) and Brief Pain Inventory Facial (BPI-Facial) scoring systems. In GKR p

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Publication Date
Tue Dec 03 2024
Journal Name
International Journal Of Cognitive Neuroscience And Psychology
EXAMINATION OF THE USE OF PICTURE CARD TECHNOLOGY TO HELP ELEMENTARY SCHOOL STUDENTS DEVELOP THEIR BASKETBALL SKILLS
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Publication Date
Sun Aug 01 2021
Journal Name
The Journal Of Asian Finance, Economics And Business (jafeb)
The Effect of Social Marketing on Customer Behavior: An Empirical Study of Tourism Companies in Baghdad, Iraq
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Social marketing seeks to develop and integrate marketing concepts with other approaches to social change and aims to influence behaviors that benefit individuals and societies for the social good. The study investigates the type and level of influence of social marketing on customer behavior in tourism companies in Baghdad (Iraq). The sample size of the study is 135 people comprising directors, assistant directors, and marketing staff in tourism companies in Baghdad. A questionnaire was used as a tool to collect data and information, and was prepared by the researcher after it underwent validity, stability, and arbitration tests. The data was analyzed using the statistical program (SPSS v. 25, AMOS v. 23) and statistical methods have been

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Publication Date
Thu Oct 01 2015
Journal Name
Al-academy
The presence of the body in the work of Lisa Fattah al-Turk: محمد قاسم سلمان السوداني
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This takes research idea representations body in the works of artist Lisa Fattah al -Turk, and the qualities that represent them in the configuration and method of performance in order to achieve an important element in the development of the concepts of knowledge and cultural rights within the surface of the artwork including the body shape of his presence authority dominant in the history of art so it was for this audience motives Self , cultural , and part of the confirmation of the human side, and serves as a conveyor of ideas and diagnostic her.Search theme is determined to attend the address of the body in the works of artist Lisa Fattah al -Turk , a comparison in how the audience and what it will be , so Researcher seeks drilling

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Publication Date
Sun Apr 30 2023
Journal Name
International Journal Of Design &amp; Nature And Ecodynamics
Evaluation of the Minimum Instream Flow: A Case Study of Shatt-Al Hillah River in Babylon Governorate
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Publication Date
Sun Sep 03 2017
Journal Name
Baghdad Science Journal
Synthesis, Spectroscopic Studies and Biological Activities of Mixed Metal (III) Complexes of Uracil with 1, 10-Phenanthroline
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New complexes of the [M(Ura)(Phen)(OH2)Cl2]Cl.2H2O type, where (Ura) uracil ; (Phen) 1,10-phenanthroline hydrate; M (Cr+3 , Fe+3 and La+3) were synthesized from mix ligand and characterized . These complexes have been characterized by the elemental micro analysis, spectral (FT-IR., UV-Vis, 1HNMR, 13CNMR and Mass) and magnetic susceptibility as well the molar conductive mensuration. Cr+3, Fe+3 and La+3- complexes of six–coordinated were proposed for the insulated for three metal(III) complexes for molecular formulas following into uracil property and 1,10-phenanthroline hydrate present . The proposed molecular structure for all metal (III) complexes is octahedral geometries .The biological activity was tested of metal(III) salts, ligands

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Publication Date
Tue Feb 28 2023
Journal Name
Iraqi Journal Of Science
Comparison of Performance Metrics Level of Restricted Boltzmann Machine and Backpropagation Algorithms in Detecting Diabetes Mellitus Disease
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Diabetes is a disease caused by high sugar levels. Currently, diabetes is one of the most common diseases in the number of people with diabetes worldwide. The increase in diabetes is caused by the delay in establishing the diagnosis of the disease. Therefore, an initial action is needed as a solution that requires the most appropriate and accurate data mining to manage diabetes mellitus. The algorithms used are artificial neural network algorithms, namely Restricted Boltzmann Machine and Backpropagation. This research aims to compare the two algorithms to find which algorithm can produce high accuracy, and determine which algorithm is more accurate in detecting diabetes mellitus. Several stages were involved in this research, including d

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