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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 Dec 14 2024
Journal Name
African Journal Of Biomedical Research
Contamination Effect of Arsenic Trioxide on White Rat
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Widely present in the environment, arsenic trioxide has been identified as a genotoxic substance that poses a serious risk to public health. The genotoxic potential of arsenic at low allowable dosage levels is assessed in this study. Four groups of twelve adult rats each were created from the 48 total. Animals in Group I were used as controls Chromosome abnormalities found in bone marrow cells were used to assess the mutagenic potential of arsenic. Hematological parameters were also assessed. At 60 and 90 days, the percentage of microsomal degranulation in the hepatic fraction increased and the amounts of RNA and proteins considerably reduced (P < 0.01) in all three dosages given. was employed in order to assess hematological par

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Publication Date
Wed Jan 30 2019
Journal Name
Journal Of The College Of Education For Women
Contradictions in experience of Criticism in Andalus Poetry
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Metaphor has been occupied first place among eloquent methods to build metaphors;
poetry with the latter becomes senseless thing. Metaphor is necessary part of energy that
sustains the poetry. Sentence of metaphor regarded more eloquent than the reality since it
does not conduct directly to the meaning , but rather get to it indirectly. Metaphor is
considered one of the most tools for the poet since it is a means of expression about his
sensation and feelings . Andalus paid concerns over metaphors as that being incited by their
country beauty and nature. The poet might resort to contradiction as to picture contraries
within himself.
Through pictures of contradictions depicted by the poets , it has explained that t

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Publication Date
Thu Jan 10 2019
Journal Name
Association Of Arab Universities Journal Of Engineering Sciences
Influence of Accelerated Curing on Fiber Reinforced Concrete
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The adopted accelerated curing methods in the experimental work are 55ºC and 82ºC according to British standard methods. The concrete mix with the characteristics compressive strength of 35MPa is design according to the ACI 211.1, the mix proportion is (1:2.65:3.82) for cement, fine and coarse aggregate, respectively. The concrete reinforced with different volume fraction (0.25, 0.5 and 0.75)% of glass, carbon and polypropylene fibers. The experimental results showed that the accelerated curing method using 82ºC gives a compressive strength higher than 55ºC method for all concrete mixes. In addition, the fiber reinforced concrete with 0.75% gives the maximum compressive strength, flexural and splitting tensile strength for all types of

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Publication Date
Tue Jun 14 2022
Journal Name
Al-academy
Visual stimulus in the design of interior spaces
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The visual stimulus is the effective force in visual attraction that achieves visual and perceptual co-optation and is important in wooing the recipient, and many procedural processes in the design are interpreted on it as the visual stimulus achieves visual comfort and a sense of pleasure and gives (place) the interior space a transformation in its plastic structure as well as arousing attention through The kinetic rhythm and the formal diversity, which increases the possibility of breaking the routine and traditional constraints of design patterns through the coating and encapsulation of the vertical and horizontal levels . Thus, the research problem was launched based on the following question: What are the stimuli of the visual stimu

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Publication Date
Sun Mar 06 2016
Journal Name
Baghdad Science Journal
A Note on the Perturbation of arithmetic expressions
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In this paper we present the theoretical foundation of forward error analysis of numerical algorithms under;• Approximations in "built-in" functions.• Rounding errors in arithmetic floating-point operations.• Perturbations of data.The error analysis is based on linearization method. The fundamental tools of the forward error analysis are system of linear absolute and relative a prior and a posteriori error equations and associated condition numbers constituting optimal of possible cumulative round – off errors. The condition numbers enable simple general, quantitative bounds definitions of numerical stability. The theoretical results have been applied a Gaussian elimination, and have proved to be very effective means of both a prior

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Publication Date
Sun Dec 01 2013
Journal Name
Baghdad Science Journal
Synthesis and Characterization of New Polyimide Contain Heterocyclic
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Novel heterocyclic polyimide 5(a,b) have been synthesized based on polyacrylic backbone. The synthetic route start with nucleophilic substitution of 2-amino, or 4-amino, pyridine 1(a,b) to the polyacryloyl chloride afforded poly substituted amide 2(a,b). Another nucleophilic substitution were carried with adipoyl chloride to form polyimide chloride 3(a,b). Treatment of 3(a,b) with hydrazine hydrate afforded acid hydrazide polyimide 4(a,b), which upon cyclocondensation with carbon disulfide gave the target heterocyclic polyimide. The synthesized compounds were identified by spectroscopic methods: FT-IR, 1H-NMR and 13C-NMR.

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Publication Date
Sun Mar 07 2010
Journal Name
Baghdad Science Journal
Hypercyclictty and Countable Hypercyclicity for Adjoint of Operators
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Let be an infinite dimensional separable complex Hilbert space and let , where is the Banach algebra of all bounded linear operators on . In this paper we prove the following results. If is a operator, then 1. is a hypercyclic operator if and only if D and for every hyperinvariant subspace of . 2. If is a pure, then is a countably hypercyclic operator if and only if and for every hyperinvariant subspace of . 3. has a bounded set with dense orbit if and only if for every hyperinvariant subspace of , .

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Publication Date
Thu Aug 03 2023
Journal Name
Journal Of Legal Sciences
Subjective Objective Conditions for the Possibility of Punishment
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Objective conditions for the possibility of punishment are legal or material facts –positive or negative that depart from the activity of the offender. The legislator comments on their subsequent verification on the formation of some crimes the possibility of.The application of punishment to the offender , but although they are facts of an object nature that approach and overlap with many systems and cases , they are distinguished by a certain subjectivity that differentiates them from each case that may seem similar or approach them. To clarify the ambiguity that may surround these conditions , Which may lead to confusion between them and what be similar to other cases due to the common effect that they have in common , which is the f

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Publication Date
Wed Feb 20 2019
Journal Name
Political Sciences Journal
Frankfurt School of Cash: Foundations and Intellectual premises
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The Frankfurt School most prominent school of philosophical and social cash Contemporary directed cash centrally according to the cons of social and intellectual known to communities of European contemporary criticism of radical and profound concepts and values that founded this community (k rationality, liberty, scientific and technical progress), as was most of the thinkers seeking to one common goal is to work to change the reality to become more humane and find a picture of the mind that are commensurate with the human mind .as Although extinguished spark most of the patrons adults, but the ideas of philosophical and social cash continue to be under live and this is evidence of the vitality and strength of the impact and effe

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Publication Date
Sat Apr 01 2017
Journal Name
Al–bahith Al–a'alami
Gender Profiling of ads in Egyptian Channel MBC
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The study begins with the idea that advertising is a form of culture. Therefore, it is not possible to be surrounded by an actual briefing from one-sided premises such as those that are based solely on the artistic, aesthetic or technical aspects, without linking it to the culture in which it is produced.
The researcher attempts to shed light on the relation between the advertising letter and the concept of gender. And here lies the importance of the research as the content of the ads and their form and implicit values in the text and image reflect the cultural values that must be identified as well as the most important roles that are stereotyped in advertisements and their relationship to the culture of society.
Advertising is

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