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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
Fri Jan 05 2024
Journal Name
Al-academy
References of the directed education to the Member Teaching Stuff performance in the departments of the art Education
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This study has came as a result to discover on the references of the educational theories which leads the professors in the educational art departments in the Iraqi universities through knowing these ideological references indeed in an important slice of the society. This slice is: the members of professoriate. The study goal knows the ideological references to these theories for the professors in these departments.
In order to approve the research's goals. The researcher has selected a sample contains (50) professoriate members in these departments in the Iraqi universities which they have the educational art profession among the next scientific degrees (assistant teacher. teacher. assistant professor & professor).
The resea

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Publication Date
Tue Jan 01 2019
Journal Name
Baghdad Science Journal
Synthesis of new five-membered hetrocyclic compounds from 2-furfuryl mercaptan derivative and evaluation of their biological activity
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A theoretical and protection study was conducted of the corrosion behavior of carbon steel surface with different concentrations of the derivative (Quinolin-2-one), namly (1-Amino-4,7-dimethyl-6-nitro-1H-quinolin-2-one (ADNQ2O)). Theoretically, Density Functional Theory (DFT) of B3LYP/ 6-311++G (2d, 2p) level was used to calculate the optimized geometry, physical properties and chemical inhibition parameters, with the local reactivity to predict both the reactive centers and to locate the possible sites of nucleophilic and electrophilic attacks, in vacuum, and in two solvents (DMSO and H2O), all at the equilibrium geometry. Experimentally, the inhibition efficiencies (%IE) in the saline solution (of 3.5%) NaCl were studied using potentiomet

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Publication Date
Tue Jun 15 2021
Journal Name
Al-academy
Graphic narrative and its semantic value in the designs of the incident of the Taff: رغد فتاح راضي
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The concept of narration stems from the connotation of continuous communication through which narration is manifested as a message that is exchanged between the sender and the recipient, and that narration is an educational conceptual necessity, representing the philosophy of intellectual inclusion achieved in a direct speech to the mind, but it is encapsulated in a colorful frame that attracts the soul and attracts attention, and the graphic narration is a speech A visual based on the basis of interference and sequence of the event in weaving the elements in a consensual way through a continuous communication process that begins with the embodiment of an event - an important event - to the recipient, in which an intellectual employment

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Publication Date
Sun Mar 05 2017
Journal Name
Baghdad Science Journal
Study the Effects of Olive Leaves Extracts in the activity of the enzyme GOT and their Biological Activities
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The olive tree, has been used it is important plant for the time being some of their parts on a large scale in the treatment of gastrointestinal disorders and stimulate circulation . Moreover, it is used as antibacterial material and also to address some of the respiratory system, diabetes, food preservation osteoporosis. This study involved the collection of olive leaves from different areas in Baghdad / Iraq. These leaves have been harvested, wash it, then dried and crushed, where the study aimed to identify the active ingredients and chemical elements in the olive leaf as well as its effect on the action of GOT enzyme .The study showed that the aqueous extracts (cold and hot) of the olive leaves powder are acidic in nature pH values

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Publication Date
Sat Oct 01 2022
Journal Name
Baghdad Science Journal
Genotypes Diversity and Virulence Factor screening of Trichomonas vaginalis Isolated from Pregnant Women in Mosul (North of Iraq)
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Trichomonas vaginalis is a causative agent of trichomoniasis , one of the most common non-viral sexually transmitted disease (STD) over all the world, especially in immunocompromised women such as pregnant. Wet smear and Giemsa stain are the current methods used in hospital to diagnosis trichomoniasis. DNA based diagnosis is still to be validated to diagnose the local isolates, the objective of the present study was to compare the conventional methods of disease diagnosis with the DNA-based method to diagnose Trichomonas incidence in local isolates. In the present study, 105 samples were collected from outpatient women (18-45 years) of Maternity hospital in Mosul who showed a classical presentation of Trichomonas

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Publication Date
Wed Apr 19 2017
Journal Name
Ibn Al-haitham Journal For Pure And Applied Sciences
The Effect of Doping by Sr on the Structural, Mechanical and Electrical Characterization of La1Ba1-xSrx Ca2Cu4O8.5+δ
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       The Sr doped La1Ba1-xSrx Ca2Cu4O8.5+δ samples with 0 ≤ x ≤ 0.3 had been prepared using the solid state reaction. The samples were claimed at 800°C for 3hr, palletized and sintered at 860°C for 20hr in air . Dielectric constant and loss by means of capacitance have been investigated with frequencies in the range of 1kHZ to 1MHZ for our samples at room temperature. Also, Shore hardness has been measured. The dielectric constant and loss decrease slightly with the increase of frequency for all compounds. Additionally, the partial substitution of Sr+2 into Ba+2 sites never have effect on the dielectric properties. X-ray diffraction (XRD) analysis showed a tetragonal structure and the

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Publication Date
Wed Dec 15 2010
Journal Name
Iraqi Journal Of Laser
Influence of 805 nm Diode Laser on Plasmid Content of Some Locally Isolated Escherichia coli and Proteus Mirabilis
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This work aimed to investigate the effect of Diode laser 805 nm on plasmid DNA and RNA
contents of some Gram negative bacteria represented by Escherichia coli and Proteus mirabilis isolates
.Plasmid extraction was done using two methods (Salting out and CTAB method).Different powers and
pulse repetition rates for 805 nm Diode Laser were used to study this effect. Results revealed that the
plasmid profile of the two species were highly affected using (2, 3) W at different frequencies including
5and 10 kHz as compared with 1 kHz while plasmids were gradually disappeared at 1W, 10 kHz. In the
same time the shining of RNA was also decreased gradually then disappeared with increasing powers
especially at 2W and 10 kHz cau

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Publication Date
Mon Jan 28 2019
Journal Name
Journal Of Accounting And Financial Studies ( Jafs )
The contribution of information systems to increase tax revenues: An applied research at the General Commission of Taxes
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The research aims to study the contribution of tax information systems to increase tax revenues, and to identify how efficiently used information systems currently by the tax authority and their effectiveness in the detection of irregularities by the tax payers such as the cleclaration of incorrect statements that do not show real results of their business activities or hide information from sources related to their income subject to tax, which would negatively affect the outcome of tax revenues and thus damage important sourse of the public treasury of the states resources. The data of research was collected by studying and analysing the tax information systems used by the General Commission of taxs and its branches and a number of prac

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Publication Date
Sun Jan 01 2006
Journal Name
Anbar Journal Of Agricultural Sciences 4 (1)‏
EFFECT OF GIBBERELLIN AND LIQUORICE EXTRACT ON FRUITS PHYSICALS CHARACTERISTICS OF DATE PALM Phoenix dactylifera L. ZAHDI CV.‏
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Publication Date
Sun Jan 01 2017
Journal Name
Journal Of Engineering
Removal of Copper from Simulated Wastewater by Applying Electromagnetic Adsorption for Locally Prepared Activated Carbon of Banana Peels
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The adsorption of copper ions onto produced activated carbon from banana peels (with particle size 250 µm) in a single component system with applying magnetic field has been studied using fixed bed adsorber. The fixed bed breakthrough curves for the copper ions were investigated. The adsorption capacity for Cu (II) was investigated. It was found that 1) the exposure distance (E.D) and strength of magnetic field (B), affected the degree of adsorption; and 2) experiments showed that removal of Cu ions and accumulative adsorption capacity of adsorbent increase as the exposure distance and strength of magnetic field increase.
 

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