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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 15 2012
Journal Name
International Journal Of Applied Biology And Pharmaceutical Technology
EFFECT OF THE SUPPLEMENTATION OF THE LAYING QUAILS RATION WITHSESAME (SESAMUM INDICUM) SEEDS AND OIL ON EGG QUALITY TRAITS
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The aim of this study was to determine the influence of feeding diets containing different levels of sesame seeds and oil on the egg quality of laying quail. A total of 120, 10 weeks old, were randomly assigned to 1 of 5 dietary groups and fed for 12 weeks diets containing 0% sesame seeds + 0% sesame oil (control group; C) or 0.5% sesame oil (T1), 1% sesame oil (T2), 1% sesame seeds (T3), and 2% sesame seeds (T4).The study was terminated when the birds were 22 weeks of age. Egg quality characteristics involved in the present study were egg weight, yolk diameter, yolk height, yolk weight, albumen height, albumen weight,Haugh unit, shell weight, shell thickness, shell percentage, yolk percentage, and albumen percentage. The addition of sesame

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Publication Date
Mon Jan 28 2019
Journal Name
Journal Of The College Of Education For Women
The measurement of Ibn Abi al-Rabee (688 AH) in his book (Abstract in the regulation of Arabic laws)
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The book of the summary in the control of the laws of Arabic is one of the most important books of Andalusian grammar, the resonance of which is clearly evident among the mother of the language books in the seventh century AH because of the character of the educational style easy and simplified service for anyone who wants the Nile Arabic grammar, that end through what is pursued in his book (Summary) on according to visual standards, as was Ibn Abi Al-Rabeea of first- type, and illustrated in which he addressed the analogies, and he followed the modalities expressed and its consequences relating to each attachment in which a (illness and reasoning factor) And what he said in the framework of each service for the study material in his ha

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Publication Date
Thu Mar 30 2017
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
In Vitro Effect of Cholesterol and Different Sugars on Digitonin Production in Multiplied Shoots of Digitalis purpurea L. Plant
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Production of  the steroidal saponin digitonin  in multiplied shoots of Digitalis purpurea , (var. Excelsior Mixed) has been achieved in vitro by two experiments. In the experiment 1, shoot tips ( 1cm length ) explants  from the sterilized seedlings were excised and cultured on MS medium ( Murashige and Skoog medium) supplemented with 0.5 mg/L TDZ (thidiazuron) and   cholesterol at the concentrations 0.0, 0.1, 0.3, 0.5, 1.0, 1.5, 2.0 or 4.0 mg/L. After 45 day, results showed that the treatment with 0.5 mg/L TDZ and 2.0mg/L cholesterol had a positive effected on increasing the dry weight of multiplied shoots and their production of digitonin when compared with other treatments, where this treatment gave 2

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Publication Date
Sun Apr 01 2018
Journal Name
Journal Of Economics And Administrative Sciences
Using modern techniques for determining the location of marketing outlet for product of the state company for vegetables oil
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Were arranged this study on two sections, which included first section comparison between markets proposed through the use of transport models and the use of the program QSB for less costs , dependant the optimal solution  to chose the suggested market  to locate new market that achieve lower costs in the transport of goods from factories (ALRasheed ,ALAmeen , AlMaamun ) to points of sale, but the second part has included comparison of all methods of transport (The least cost method ,Vogels method , Results Approximations method , Total method) depending on the agenda of transport, which includes the market proposed selected from the first section and choose the way in which check the solution first best suited in terms

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Publication Date
Wed Mar 30 2022
Journal Name
Journal Of Economics And Administrative Sciences
Comparing Some Methods of Estimating the Parameters and Survival Function of a Log-logistic Distribution with a Practical Application
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The Log-Logistic distribution is one of the important statistical distributions as it can be applied in many fields and biological experiments and other experiments, and its importance comes from the importance of determining the survival function of those experiments. The research will be summarized in making a comparison between the method of maximum likelihood and the method of least squares and the method of weighted least squares to estimate the parameters and survival function of the log-logistic distribution using the comparison criteria MSE, MAPE, IMSE, and this research was applied to real data for breast cancer patients. The results showed that the method of Maximum likelihood best in the case of estimating the paramete

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Publication Date
Thu Oct 01 2020
Journal Name
International Communications In Heat And Mass Transfer
Thermal behaviour of the flow boiling of a complex nanofluid in a rectangular channel: An experimental and numerical study
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Publication Date
Wed Oct 17 2018
Journal Name
Journal Of Economics And Administrative Sciences
Evaluation of Quality of Health Service in Primary Health Care Centers / Case Study in Family Medicine Centers in Baghdad
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The aim of this research is to identify the level of health services provided in the health centers operating in the family medicine system in Baghdad, and to determine the extent to which these health centers are applied to the internationally recognized standards , "Defining the quality of service gap between health care centers operating in the family medicine system and the standards adopted by the corresponding international centers (Al-Shabab Model Family Medicine Center, Al-Jahad Family Health Center, Al-Adhamiya Family Health Center, Al-Zawiya Family Health Center), and in view of what our health institutions are facing. The family of primary health care centers has difficulties, obstacles and challenges such as the diffi

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Publication Date
Fri Jun 30 2017
Journal Name
Iraqi Journal Of Chemical And Petroleum Engineering
Effect of Kaolinite on the Mechanical Properties, Thermal Properties, Flammability and Water Absorption Percentage of Poly (Vinyl Chloride) Composite
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PVC/Kaolinite composites were prepared by the melt intercalation method. Mechanical properties, thermal properties, flammability and water absorption percentage of prepared samples were tested. Mechanical characteristic such as tensile strength, elongation at break; hardness and impact strength (charpy type) were measured for all samples. It was found that the tensile strength and elongation at break of PVC composites decreased with increasing kaolinite loading. Also, the hardness of the composites increases with increase in filler content .The impact strength of the composites at the beginning increases at lower kaolinite loadings is due to the lack of kaolin adhesion to the matrix. However, at higher kaolin loadings. This severe agglom

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Publication Date
Tue Aug 02 2016
Journal Name
The Iraqi Journal Of Agricultural Sciences
AN ECONOMIC ANALISYS FOR PRICING POLICY AND POLICY OF FORIGEN TRADE OF AGRICULTURAL SECTOR IN IRAQ DURING 2003-2013
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There is no doubt that Agricultural Policy is the main responsible for the degrading in Agricultural sector in Iraq during the period 2003-2013, and that was very clear from magnitude of indicators because of little sharing of each of agricultural product in GDP because it was (9.38%) in average during the study period and the annual changing of it was negative (-5.82%), and there is increasing in deficit of trade balance in Agriculture during the study period about (4185.73) million US$, and the percentage of agricultural exports from total exports was (0.14%) in average only. The foreign trade policy in Agricultural products also cannot determine map of Revealed Comparative Advantage (RCA) of Agricultural products and crops. The study sh

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Publication Date
Thu Jun 01 2023
Journal Name
Baghdad Science Journal
Design and study the effect of inner bore diameter on the magnetic and optical properties of the unipolar lens
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    Many designs have been suggested for unipolar magnetic lenses based on changing the width of the inner bore and fixing the other geometrical parameters of the lens to improve the performance of unipolar magnetic lenses. The investigation of a study of each design included the calculation of its axial magnetic field the magnetization of the lens in addition to the magnetic flux density using the Finite Element Method (FEM) the Magnetic Electron Lenses Operation (MELOP) program version 1 at three different values of current density (6,4,2 A/mm2). As a result, the clearest values and behaviors were obtained at current density (2 A/mm2). it was found that the best magnetizing properties, the high

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