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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 Dec 15 2023
Journal Name
Journal Of Baghdad College Of Dentistry
Comparing the effectiveness of using three different re-mineralizing pastes on remineralisation of artificially induced white spot lesion
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Background: This study aimed to compare the surface microhardness (MH) and mineral content of white spot lesions(WSLs) after using bioactive glass (BAG)casein phosphopep-tides-amorphous calcium phosphate(CPP-ACP),and nanohydroxyapatite(Nano-HAP) under pHcycling. Material and method:18 sound maxillary first premolar were used for the study.10 were selected for the vickers microhardness test, For Energy-dispersive X-ray spectroscopy analysis (EDX), the remaining 8 premolar teeth were used, 40 sections of enamel blocks (Four from each tooth) were produced from the middle part of the buccal and palatal surfaces of teeth for MH test while 48 sections of enamel blocks (Six from each tooth) were produced for EDX analysis. Enamel slabs were divi

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Publication Date
Sat Dec 01 2007
Journal Name
Electrochimica Acta
Scale-up of a fixed bed electrochemical reactor consisting of parallel screen electrode used for p-aminophenol production
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Publication Date
Wed Mar 23 2022
Journal Name
Journal Of Educational And Psychological Researches
School Principals’ practices of servant leadership from teachers’ perspectives in basic education schools in the Sultanate of Oman
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The study aimed to explore the school principals’ servant leadership practices for primary teachers’ perspectives in the Sultanate of Oman, furthermore to investigate the differences in those practices attributable to variables (gender, qualification, educational stage, years of experience, governorate). The study relied on the descriptive approach, by employing the survey research design using the questionnaire as a main tool for data collection, which included five dimensions of servant leadership (altruism, humility, enhancing teacher development, emotional healing, commitment to community development), Data collected from (1094) teachers in basic education schools, and they were chosen randomly. The results of the study indicated

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Publication Date
Sat Jan 02 2021
Journal Name
Journal Of The College Of Languages (jcl)
The morphological and syntactic grammes of the category of temporality: Морфолого-синтаксический состав категории темпоральности в русском языке
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The present paper discusses morphological and syntactic structures of time in Russian language. The morphological and syntactic structures are considered part component of time category in Russian language.

The morphological categories of time are formed through a various types of expressions .Tenses generally express time relative to the moment of speaking. In some contexts, however, their meaning may be relativized to a point in the past ,present or future which is established in the discourse .Some languages have different verb forms or constructions and that are opposed in meaning not in syntactic category. Hence, the present study traces and compares the syntacti

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Publication Date
Wed Dec 01 2021
Journal Name
Journal Of Engineering
Effect of Seismic Loading on Variation of Pore Water Pressure During Pile Pull-Out Tests in Sandy Soils
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Experimental model was done for pile model of L / D = 25 installed into a laminar shear box contains different saturation soil densities (loose and dense sand) to evaluate the variation of pore water pressure before and after apply seismic loading. Two pore water pressure transducers placed at position near the middle and bottom of pile model to evaluate the pore water pressure during pullout tests. Seismic loading applied by uniaxial shaking table device, while the pullout tests were conducted through pullout device. The results of changing pore water pressure showed that the variation of pore water pressure near the bottom of pile is more than variation near the middle of pile in all tests. The variation of pore water

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Publication Date
Tue Dec 01 2009
Journal Name
Iraqi Journal Of Physics
Study the Effect of the High Voltage on The preparation of Polyvinyl Alcohol/ Tio2 Nano Fiber by Electrospinning
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Abstract:In this research we prepared nanofibers by electrospinning from poly (Vinyl Alcohol) / TiO2. The spectrum of the solution (Emission) was studied at 772 nm. Several process parameter were Investigated as concentration of PVA, the effect of distance from nozzle tip to the grounded collector (gap distance), and final the effect of high voltage. We find the optimum condition to prepare a narrow nanofibers is at concentration of PVA 16gm, the fiber has 20nm diameter.

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Publication Date
Sun Mar 01 2020
Journal Name
Journal Of Accounting And Financial Studies ( Jafs )
The Effectiveness of Quantitative Instruments in Controlling Money Supply: An Applied Research in the Central Bank of Iraq
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This research deals with the role of quantitative (indirect) tools of monetary policy that used by the Central Bank of Iraq in order to control and manage the size of the money supply that intermediate goal through which monetary policy is able to achieve its final goals, foremost among which is to reduce inflation and raise the value of the local currency in front of foreign currency rates. The research is based on a major hypothesis stating that quantitative tools have a direct and strong influence on the money supply, especially under the circumstances of the shift towards a market economy. There has been a branching relationship with this statistically significant relationship between the money supply and the quantitative tools used

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Publication Date
Wed Jun 01 2016
Journal Name
Journal Of Economics And Administrative Sciences
Evaluation the efficiency of nursing performance depended on standards of( W.H.O )Practical research in medical city office hospitals
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      This research a mining at evaluation the efficiency of the nursing performance depended on standards of W.H.O. via application standards of W.H.O on the nursing personnel in medical city office,  in light of it, it has design  world evaluation list, and a sample was chosen  from the nursing personnel in  given researched the organization whom they are evaluated according to the standards of W.H.O for the nursing performance included of ten standards, divided in to 45 question , besides the evaluation list, the researcher get assistance of some tools of collection information via  actual checking and personal interviews, a number of statistical means were used to manipulate t

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Publication Date
Tue Dec 15 2020
Journal Name
Al-academy
Spatial Formation of the Sculptural Body in the Space of the Theatrical Show: عقيل ماجد حامد محمد الملاحسن
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The current research presents a study of the sculptural body in the space of the theatrical show through reviewing most of the ideas, propositions and workings presented by philosophers and directors within the space of the show, that there were various experiences of employing those spatial formations through the mediator (the space) based on sculpturing the body in achieving those formations, which contributed in building a symbolic picture of various structural connotations. That was formulated through the research chapters, which include the first chapter (the methodological framework) which consists of two sections. The first section (the duality of space formation and imaginations). The second section (sculptural body sequences in

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Publication Date
Wed Oct 24 2018
Journal Name
Journal Of Economics And Administrative Sciences
Training Programs And Their Impact On The Quality Of municipal Services /Field Research In The Municipality Of Baghdad
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     The objective of this research is to measure the training programs and identify the nature and then measure how it reflected on the quality of municipal services provided by the municipal departments investigated by measuring the quality of services based on quality standards, the researcher chose four municipal departments in the Rusafa / Baghdad (164 people) representing the directors and their assistants, officials of the municipal departments, the people and the engineering staff in charge of the task forces as well, including the survey of the views of the concerned persons in the management of the Vocational Training Institute in the Secretariat of the Republic, The quality of the municipal services

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