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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
Mon Jan 29 2024
Journal Name
2024 3rd International Conference On Digital Transformation And Applications (icdxa)
The Mediating Role of Cobit 2019 in Managing the Relationship Between Qualitative Characteristics of Accounting Information and Information Asymmetry
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The Mediating Role of Cobit 2019 in Managing the Relationship Between Qualitative Characteristics of Accounting Information and Information Asymmetry

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Publication Date
Wed Jun 29 2022
Journal Name
Journal Of The College Of Education For Women
On the Use of the First-Person Pronoun ‘we’ in Final-Year Master Projects of South Algerian EFL Students
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Literature on the use of the first-person pronoun in abstracts and conclusion sections of final-year projects is limited. In case of Algerian Master students, it is too scant. The present paper aims at filling this gap through a study concerned with students’ and engagement in their final projects (memoirs). This quantitative study examines the use of “we” and its various types, “our- us-I, my, the researcher” in memoirs chosen at random from the d-space portal of the University of Adrar, southern Algeria. Sixty-five papers, submitted in the fields of Linguistics or didactics between 2015 and 2020 and representing nearly half of the whole memoirs’ depository at the library’s d-space, constituted the corpus of study. The des

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Publication Date
Fri Jun 11 2021
Journal Name
Journal Of Baghdad College Of Dentistry
Management of trauma to the anterior segment of the maxilla: alveolar fracture and primary incisors crown and root fracture
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Background: An injury to both the primary and permanent teeth and the supporting structures is one of the most common dental problems seen in children. Splinting is usually difficult or impossible to perform in the primary dentition (due to diminutive room size and lack of patient cooperation). Healing must, therefore, occur despite mobility at the fracture line, usually resulting in interposition of connective tissue. In some instances, infection will occur in the coronal pulp. The present study reported a case of trauma to the anterior primary teeth and alveolar bone in a four year old child. The trauma has caused fracture to the crowns and roots of the primary anterior teeth. The following case was managed in a procedure that may prov

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Publication Date
Thu Jan 04 2024
Journal Name
World Academy Of Sciences Journal
Antibacterial and antibiofilm activity of klebicin crude extract on clinical isolates of <i>Salmonella</i> and <i>Enterobacter</i>
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Publication Date
Sat Apr 30 2022
Journal Name
Neuroquantology
Theoretical Study of Hard Photonic Produce from Interaction of Quark-Gluon at Critical Temperature 190 MeV and 196 MeV
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The quantum chromodynamics theory approach was taken to study the photonic emission from interaction of quark gluon at high at Bremsstrahlung processes. Strength coupling, quark charge 𝑒𝑞 , flavor number 𝑛𝐹 , thermal energy T of system, fugacity of gluon ƛ𝑔, fugacity of quark ƛ𝑞 , critical temperature 𝑇𝐶 and photons energy 𝐸 are taken to calculate photons rate via the quantum system. Photons emission rate studies and calculates via high energy 400MeV to 650 MeV using flavor number 3 and 7 for 𝑢̅𝑔 → 𝑑̅𝑔𝛾 and 𝑐𝑔 → 𝑠𝑔𝛾 systems at bremsstrahlung processes with critical temperature (𝑇𝑐 = 190 and 196) MeV with photons energy (1-10) GeV. The confinement and de-confineme

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Publication Date
Mon Mar 27 2017
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Isolation and Characterization of Triterpenoid Saponin Hederacoside C. Present in the Leaves of Hedera helix L. Cultivated in Iraq
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Hedera helix L. plant belongs to the family Araliaceae that provide a host of bioactive compounds (mainly saponins) of important biological activities, like spasmolytic, secretolytic, anti-inflammatory, and antibacterial activities. Literature survey revealed that there was no previously study concerning H. helix L. which is cultivated in Iraq, so we decided to carry out this study which include extraction, isolation, purification and identification of biologically important triterpenoid saponin hederacoside C from leaves of H. helix L. Extraction of hederacoside C was carried out using two methods; in the first method maceration  was done with methanol 99.8% and in the second method soxhlet extraction wit

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Publication Date
Fri Jan 11 2019
Journal Name
Iraqi Journal Of Physics
Effect of water absorption on some mechanical and physical properties of epoxy/polyurethane blend reinforced with nano silica powder
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The aim of this work is to evaluate some mechanical and physical
properties (i.e. the impact strength, hardness, flexural strength,
thermal conductivity and diffusion coefficient) of
(epoxy/polyurethane) blend reinforced with nano silica powder (2%
wt.). Hand lay-up technique was used to manufacture the composite
and a magnetic stirrer for blending the components. Results showed
that water had affected the bending flexural strength and hardness,
while impact strength increased and thermal conductivity decreased.
In addition to the above mentioned tests, the diffusion coefficient
was calculated using Fick’s 2nd law.

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Publication Date
Sun Sep 07 2014
Journal Name
Baghdad Science Journal
Study of Naidid worms community associated with two species of aquatic plants in River Tigris inside Baghdad City / Iraq
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The present study is concern with the interaction between the naidid worms diversity and the species of aquatic plant within which the worms found . For this purpose, two species of aquatic plant were used, Ceratophyllum demersum and Eichhornia crassipes. 12 samples of aquatic plants were collected , as one sample monthly for a period from September 2012 to September 2013 from different site on Tigris river within Baghdad City. From C. demersum, 1428 individuals, were sorted during the study period, related to 17 species. 12 species of subfamily Naidinae which are Chaetogaster limnaei , C. diastrophus , Ophidonais serpentine , Dero ( Dero) digitata. , D.(D.) evelinae , Nais pseudobtosa , N.simplex, N.stolci , N.Paradalis , N.elingiu

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Publication Date
Fri Jul 18 2025
Journal Name
Journal Of Baghdad College Of Dentistry
The effect of addition nano particle ZrO2 on some properties of autoclave processed heat cure acrylic denture base material
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Background: Polymethyl methacrylate (PMMA) is used in denture fabrication and considered as the most reliable material for the construction of removable prosthodontic appliances. The material is far from ideal in fulfilling the mechanical requirements and the effect of autoclave processing has not been fully determined. The purpose of this study was to evaluate the effect of addition of salinized (ZrO2) Nano fillers in percentages 3%, 5% and 7% by weight on some properties of heat cured acrylic processed the by autoclave and compare it with 0% (control) group . Materials and methods: The silanized(ZrO2) Nano-particles was added to PMMA powder by weight in three different percentages 3%, 5% and 7%, mixed by probe ultra-sonication machine.

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Publication Date
Sat Jun 01 2013
Journal Name
Journal Of Engineering
Assessment of Water Quality Index and Water Suitability of the Tigris River for drinking water within Baghdad City, Iraq
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In this study water quality was indicated in terms of Water Quality Index that was determined through summarizing multiple parameters of water test results. This index offers a useful representation of the overall quality of water for public or any intended use as well as indicating pollution, water quality management and decision making. The application of Water Quality Index (WQI) with sixteen physicochemical water quality parameters was performed to evaluate the quality of Tigris River water for drinking usage. This was done by subjecting the water samples collected from eight stations in Baghdad city during the period 2004-2010 to comprehensive physicochemical analysis. The sixteen physicochemical parameters included: Turbidity,

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