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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
Sat Oct 19 2024
Journal Name
European Journal Of Human Genetics
Epigenomic and phenotypic characterization of DEGCAGS syndrome
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Publication Date
Sat Jan 01 2022
Journal Name
Journal Of Engineering
CFD Simulation Model of Salt Wedge Propagation
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This study aims to numerically simulate the flow of the salt wedge by using computational fluid dynamics, CFD. The accuracy of the numerical simulation model was assessed against published laboratory data. Twelve CFD model runs were conducted under the same laboratory conditions. The results showed that the propagation of the salt wedge is inversely proportional to the applied freshwater discharge and the bed slope of the flume.  The maximum propagation is obtained at the lowest discharge value and the minimum slope of the flume. The comparison between the published laboratory results and numerical simulation shows a good agreement. The range of the relative error varies between 0 and 16% with an average of 2% and a roo

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Publication Date
Thu Feb 01 2024
Journal Name
Baghdad Science Journal
Forgotten Index and Forgotten Coindex of Graphs
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F index is a connected graph, sum of the cubes of the vertex degrees. The forgotten topological index has been designed to be employed in the examination of drug molecular structures, which is extremely useful for pharmaceutical and medical experts in understanding the biological activities. Among all the topological indices, the forgotten index is based on degree connectivity on bonds. This paper characterized the forgotten index of union of graphs, join graphs, limits on trees and its complements, and accuracy is measured. Co-index values are analyzed for the various molecular structure of chemical compounds

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Publication Date
Sat Apr 07 2018
Journal Name
Civil Engineering Journal
Behavior of Precast Prestressed Concrete Segmental Beams
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The structural behavior of Segmental Precast Post-tensioned Reinforced Concrete (SPPRC) beams largely depends on the behavior of the joints that connect between the segments. In this research, series of static tests were carried out to investigate the behavior of full-scale SPPRC beams with different types of epoxy-glued joint configurations; multi-key joint, single key, and plain key joint. The reference specimen was monolithically casted beam and the other specimens were segmental beams with five segments for each one. The general theme from the experimental results reflects an approximate similarity in the behavior of the four beams with slight differences. Due to the high tensile strength of the used epoxy in comparison to concr

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Publication Date
Wed Mar 10 2021
Journal Name
Baghdad Science Journal
Some Types of Mappings in Bitopological Spaces
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            This work, introduces some concepts in bitopological spaces, which are nm-j-ω-converges to a subset, nm-j-ω-directed toward a set, nm-j-ω-closed mappings, nm-j-ω-rigid set, and nm-j-ω-continuous mappings. The mainline idea in this paper is nm-j-ω-perfect mappings in bitopological spaces such that n = 1,2  and m =1,2 n m. Characterizations concerning these concepts and several theorems are studied, where j = q , δ, a , pre, b, b.

 

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Publication Date
Sun Apr 01 2018
Journal Name
International Journal Of Civil Engineering And Technology
Features of plastics in modern construction use
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The work is devoted to the study of the plastics features in modern construction use. The plastics classification in modern construction is generalized. This classification includes: the field of building products application, the features of the materials properties and products, a backup group that includes those products that are not included in the previous groups. The classification considered is the basis for choosing the basic materials properties that affect the quality and durability of products. To improve the plastics types in the construction, the Venn diagram is used. The main materials types for manufacturing a product of the "window profile" type are analyzed; the result of the studies is a comparative diagram.

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Publication Date
Wed Jan 01 2025
Journal Name
Journal Of Discrete Mathematical Sciences And Cryptography
Cubic intuitionistic ideals of a TM-algebra
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This study investigated the cubic intuitionistic fuzzy set of TM-algebra as a generalization of the cubic set. First, a cubic intuitionistic ideal and a cubic intuitionistic T-ideal are defined, followed by a discussion of their properties. Furthermore, the level set of a cubic intuitionistic TM-algebra is defined, and the relationship between a cubic intuitionistic level set and the cubic intuitionistic T-ideal is established. A novel definition of a cubic intuitionistic set under homomorphism is proposed, and several significant results are demonstrated.

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Publication Date
Tue Sep 14 2021
Journal Name
Nature Reviews Microbiology
Towards an integrative view of virus phenotypes
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Publication Date
Fri Jul 21 2023
Journal Name
Journal Of Engineering
GENERATION OF MPSK SIGNAL USING LOGIC CIRCUITS
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The traditional technique of generating MPSK signals is basically to use IQ modulator that involves analog processing like multiplication and addition where inaccuracies may exist and would lead to imbalance problems that affects the output modulated signal and hence the overall performance of the system. In this paper, a simple method is presented for generating the MPSK using logic circuits that basically generated M-carrier signals each carrier of different equally spaced phase shift. Then these carriers are time multiplexed, according to the data symbols, into the output modulated signal.

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Publication Date
Tue May 01 2018
Journal Name
Thin Solid Films
Thermo-mechanical properties of cubic lanthanide oxides
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This contribution investigates the effect of the addition of the Hubbard U parameter on the electronic structural and mechanical properties of cubic (C-type) lanthanide sesquioxides (Ln2O3). Calculated Bader's charges confirm the ionic character of Lnsingle bondO bonds in the C-type Ln2O3. Estimated structural parameters (i.e., lattice constants) coincide with analogous experimental values. The calculated band gaps energies at the Ueff of 5 eV for these compounds exhibit a non-metallic character and Ueff of 6.5 eV reproduces the analogous experimental band gap of cerium sesquioxide Ce2O3. We have thoroughly investigated the effect of the O/Ce ratios and the effect of hafnium (Hf) and zirconium (Zr) dopants on the reduction energies of C

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