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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 Apr 10 2017
Journal Name
Al-mustansiriyah Journal Of Science
Synthesis, characterization and antibacterial Evaluation for mixed-ligand Complexes of Nickle (II), Manganese(II), Copper( II),Cobalt(II) and Mercury(II) with Tetradentate Schiff base and 1,10-phenanthroline
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An abstract is a brief summary of a research article, thesis, Schiff base ligand (L) was prepared by the reaction of 4-aminantipyrine with o-phenylenediamine, the prepared ligand characterized by Micro elemental Analysis, FT. IR, UV-Vis, and 1H,13C-NMR spectroscopy.complexes of Mn(II), Co(II), Ni(II), Cu(II) and Hg(II) with Schiff base and 1,10-phenanthroline (Phen) have been investigated in aqueous ethanol with (1:1:1) (M:L:Phen). The prepared complexes were characterized using flame atomic absorption, (C. H. N) Analysis, FT. IR and UV-Vis spectroscopic methods as well as magnetic susceptibility and conductivity measurements. From the obtained data the octahedral structure was suggested for all complexes. The biological screening effects o

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Publication Date
Wed Jan 30 2019
Journal Name
Journal Of The College Of Education For Women
The Difficulties which Face Public Basic School Principals in Jarash Governorate in Editing Formal Letters and Correspondence and Means of Dealing With These Problems as Perceived by Them
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This study aimed at identity baying the difficulties which face public basic school
principals in jar ash governorate in editing formal letters and correspondence and means of
debating with these problems to collect data the researchers developed a question air were
established the population of the study which represents its sample consisted of 129 principals
65 males and 64 females
The results of the study revealed that the principals face difficulties in office and file
management in preparing plans and reports and writing formal letters and answering them
saved recommendations were presented among which were organizing training sessions and
workshops to train the principals on how to dead with there problems.<

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Publication Date
Wed Nov 05 2025
Journal Name
Journal Of Baghdad College Of Dentistry
Evaluation of marginal gap at the composite/enamel interface in Class II composite resin restoration by SEM after thermal and mechanical load cycling (An in vitro comparative study)
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Background: This study compared in vitro the marginal adaptation of three different, low shrink, direct posterior composites Filtekâ„¢ P60 (packable composite), Filtekâ„¢ P90 (Silorane-based composite) and Sonic fillâ„¢ (nanohybrid composite) at three different composite/enamel interface regions (occlusal, proximal and gingival regions) of a standardized Class II MO cavity after thermal changes and mechanical load cycling by scanning electron microscopy. Materials and methods:Thirty six sound human maxillary first premolars of approximately comparable sizes were divided into three main groups of (12 teeth) in each according to the type of restorative material that was used: group (A) the teeth were restored with Filtekâ„¢ P6

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Publication Date
Fri Oct 30 2020
Journal Name
Journal Of Economics And Administrative Sciences
Forecasting the financial failure of Islamic banks using the Altman model, ---- springate model and ---- Sherrod model / an analytical study in Islamic banks listed on the Iraq Stock Exchange
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Profit is a goal sought by all banks because it brings them income and guarantees them survival and continuity, and on the other hand, facing commitments without financial crisis. Hence the idea of research in his quest to build scientific tools and means that can help bank management in particular, investors, lenders and others to predict financial failure and to detect early financial failures. The research has produced a number of conclusions, the most important of which is that all Islamic banks sample a safe case of financial failure under the Altman model, while according to the Springate model all Islamic banks sample a search for a financial failure except the Islamic Bank of Noor Iraq for Investment and Finance )BINI(. A

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Publication Date
Sun Jun 02 2019
Journal Name
Journal Of The College Of Languages (jcl)
Artistic Features Of Re-Writing The Novel "On The Eve, on The Eve" By YevgueniBobov: As an Example: Жанровые Особенности Ремейка (На Материале Романа Е. Попова «Накануне Накануне»)
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 The paper tackles two topics. The first is about the term "Ремейк" which is very common in contemporary Russian literature; it has counterparts such as " Обработка" and " Переделка", where these two may indicate any of the following meanings (remake, reformulate, rewrite, treatment, modification, change). It has been shown that this term does not have a stable definition. Also, the role of this term in literary studies has been mentioned along with how it has come to its peak of use in post-modern literature.

The second is that I have taken a sample of well-known works in Russian literature " On the Eve, On the Eve " by the contemporary Russian writer YevgueniBobov, and shown the effort of the writer

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Publication Date
Fri Jun 01 2018
Journal Name
Journal Of The College Of Languages (jcl)
Отражение женского пола в качестве женщины в русских фразеологических единицах на фоне арабского языка Reflection of Feminine Gender as represented by Women in Russian Idioms in Comparison with Arabic
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Аннотация

Взгляд на пол как на комплексное социальное отношение означает,что роль женщины в истории следует рассматривать не просто как новый для исторической науки предмет исследования, а как обойденный вниманием ученых вопрос об отношениях между людьми или группами людей.

Женщина играет особую и важную  роль в обществе , даже скажут ,что она половина нашего общества ,поэтому она яв

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Publication Date
Sun Feb 03 2019
Journal Name
Journal Of The College Of Education For Women
The Relationship between the age of the pregnant mother and the values hemoglobin blood and packed cell volume (PCV) in the Third Trimester for different age groups (descriptive study)
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Pregnancy pose an additional burden on the body of the mother so as to meet their needs and the needs of the fetus and the body's need to iron increases excessively during pregnancy and iron is an essential element for the formation of hemoglobin blood Either hemoglobin is the key ingredient for red blood cells which carries oxygen to parts of the body, alas, most of the pregnant women begin their pregnancy inadequate stocks of iron in their bodies, which does not cover their need and requirement of the fetus, especially in the second and third trimesters of pregnancy When you reach the mother to the period in which they did not have the adequate amount of iron to produce hemoglobin become the mother was anemic So emerged the problem of

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Publication Date
Tue Jun 05 2018
Journal Name
Journal Of Molecular Structure
Synthesis, characterization, experimental and theoretical structure of novel Dichloro(bis{2-[1-(4-methoxyphenyl)-1H-1,2,3-triazol-4-ylkN3] pyridine-kN})metal(II) compounds, metal ¼ Mn, Co and Ni
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The syntheses, characterizations and structures of three novel dichloro(bis{2-[1-(4-methoxyphenyl)-1H-1,2,3-triazol-4-yl-κN3]pyridine-κN})metal(II), [M(L)2Cl2], complexes (metal = Mn, Co and Ni) are presented. In the solid state the molecules are arranged in infinite hydrogen-bonded 3D supramolecular structures, further stabilized by weak intermolecular π…π interactions. The DFT results for all the different spin states and isomers of dichloro(bis{2-[1-phenyl-1H-1,2,3-triazol-4-yl-κN3]pyridine-κN})metal(II) complexes, [M(L1)2Cl2], support experimental measurements, namely that (i) d5 [Mn(L1)2Cl2] is high spin with S = 5/2; (ii) d7 [Co(L1)2Cl2] has a spin state of S = 3/2, (iii) d8 [Ni(L1)2Cl2] has a spin state of S =

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Publication Date
Thu Oct 31 2024
Journal Name
Mathematical Modelling Of Engineering Problems
Investigating the Effects of Canard Dihedral Angle on the Wing Span Loading in a Forward-Swept Wing Aircraft at Transonic Speeds at Steady State Conditions Using Computational Fluid Dynamics
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Forward-swept wings were researched and introduced to improve maneuverability, control, and fuel efficiency while reducing drag and they are often used alongside canards, to further enhance their characteristics. In this research, the effects of canard dihedral angles on the wing loading of a forward-swept wing in transonic flow conditions were studied, as the wing loading provides a measure of wing’s efficiency (lift/drag). A generic aircraft model from literatures was selected, simulated, and compared to, using CFD software ANSYS/Fluent where the flow equations were solved to calculate the aerodynamic characteristics. The research was carried at two different Mach numbers, 0.6 and 0.9, for five different canard dihedral angles which tra

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Publication Date
Fri Sep 20 2024
Journal Name
Journal Of Nano Research
Impact of Copper Doping on Nanocrystalline SnO&lt;sub&gt;2&lt;/sub&gt; Thin Films Synthesized by Sol-Gel Coating and Chemical Bath Deposition for Gas Sensor Applications
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This work focuses on the preparation of pure nanocrystalline SnO2 and SnO2:Cu thin films on cleaned glass substrates utilizing a sol-gel spin coating and chemical bath deposition (CBD) procedures. The primary aim of this study is to investigate the possible use of these thin films in the context of gas sensor applications. The films underwent annealing in an air environment at a temperature of 500 C for duration of 60 minutes. The thickness of the film that was deposited may be estimated to be around 300 nm. The investigation included an examination of the structural, optical, electrical, and sensing characteristics, which were explored across various preparation circumstances, specifically focusing on varied

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