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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
Tue Aug 15 2023
Journal Name
Al-academy
Digital technologies in the means of communication
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Modern digital technologies have affected the means of communication in terms of structure, function and methods of dealing with them, and the communication process has changed, becoming bilateral, reciprocal and interactive, after it was one-way and limited in circulation and the roles changed, so the receiver became the sender and reversed is correct, and the culture of the active user and the participant spread, and the communication process became continuous.
The international information network has provided new electronic channels in the media and communication that are not known and opened a new era for these means, which led to a trend towards digital media in an unprecedented way.
The new communication platforms are the re

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Publication Date
Mon Mar 06 2023
Journal Name
Baghdad Science Journal
Quotient on some Generalizations of topological group
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In this paper, we define some generalizations of topological group namely -topological group, -topological group and -topological group with illustrative examples. Also, we define grill topological group with respect to a grill. Later, we deliberate the quotient on generalizations of topological group in particular -topological group. Moreover, we model a robotic system which relays on the quotient of -topological group.

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Publication Date
Tue Aug 15 2023
Journal Name
Al-academy
The architectural design of the holy shrines
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As an architectural philosophical concept, Islamic architecture cannot be considered arches, doors, domes and lighthouses, since Islamic architecture is based on a structural system of religious, mental, philosophical and logical origins and beliefs shared by the arts, technology and the requirements of the surrounding environment. Rather, the architectural designer's distance from it becomes as if it is for people not from this world, and Islamic architecture is not abbreviated on the heritage side as much as it is a renewed "modern" state, dealing with the concepts of Islam that are valid for every time and place. This can be seen through the mechanisms that produced heritage architecture and what was built on it, which is not a simula

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Publication Date
Sun Sep 07 2008
Journal Name
Baghdad Science Journal
Detection of Pseudomonas aeruginosa in Hospital Contamination
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The Present investigation includes the isolation and identification of Pseudomonas aeruginosa for different cases of hospital contamination from 1/ 6/2003 to 30/9/2004, the identification of bacteria depended on morphological , cultural and biochemical characters, 37 of isolates were diagnosed from 70 smears from wounds and burns beside 25 isolates were identified from 200 smears taken from operation theater and hospital wards including the floors , walls , sources of light and operation equipment the sensitivity of all isolates to antibiotic were done , which exhibited complete sensitivity to Ciprofloxacin , Ceftraixon, Tobromycin and Gentamysin ,while they were complete resist to Amoxcillin , Tetracyclin , Nitrofurantion , Clindamycin C

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Publication Date
Sun Mar 07 2010
Journal Name
Baghdad Science Journal
Biochemical Study of Gallstones Compositions in Iraqipatients
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The aim of this study is to determine the organic and inorganic components of bile and gallstones in Iraqi patients. Forty seven patients were included in this study with mean age (53+7) years and BMI (30.82+4.18) Kg/m2. Bile was classified according to its corresponding stones into: Bile of Mixed stones and Bile of pigment stones. IR spectra were studied for both types of stones and their bile in addition to biochemical analysis for organic and inorganic components. The organic components include: (cholesterol, bilirubin, bile salts, and phospholipids), while inorganic components include salts of: (calcium, phosphorus, iron, cupper and magnesium). The results reveal to there was significant low levels (p<0.005) of bile salts and phospholi

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Publication Date
Thu Feb 01 2018
Journal Name
Journal Of Economics And Administrative Sciences
Conceptual perspective of self-marketing Search descriptive
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Basic orientation is to look at identifying conceptual perspective to market self-research and descriptive, as has the marketing theme for the same attention in the practical side before endo scopic In recent years, is marketing an integrated and holistic included many areas not limited to the marketing of goods and services, and even included the marketing of religion, politics and individuals for themselves, as the awareness and concepts that seep into the soul of man from its inception until his arrival to the stage of owning a level of skills or expertise, scientific or all of those things degrees mixed with ambition and aspiration for self-realization takes way to search for opportunities or created, often observe individual

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Publication Date
Sun Feb 01 2015
Journal Name
Journal Of Engineering
Planning of Distribution Networks in Baghdad City
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Planning of electrical distribution networks is considered of highest priority at the present time in Iraq, due to the huge increase in electrical demand and expansions imposed on distribution networks as a result of the great and rapid urban development.

Distribution system planning simulates and studies the behavior of electrical distribution networks under different operating conditions. The study provide understanding of the existing system and to prepare a short term development plan or a long term plan used to guide system expansion and future investments needed for improved network performance.

The objective of this research is the planning of Al_Bayaa 11 kV distribution network in Baghdad city bas

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Publication Date
Sat Jan 12 2019
Journal Name
Journal Of The College Of Education For Women
RESOURCES BOOKS OF NZHAH ALTRF IN MORPHOLOGY
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This research aims to establish a morphological study of the sources wrote picnic party in Morphology The sources from which he took the owners wrote their material (Nzhah Altarf) morphological accurate survey requires full briefing survey.
This is very difficult, because they were not mean with reference to the sources, who transferred them, so it was difficult to know the author, who mentioned it to say that on one hand, and on the other hand, find them do not deny preferred their predecessors of Arab scholars, and this is evidence of scientific integrity they have and high character they have, Sometimes we find that thay me htioh their opihios with their hames cite their views with anonymity, and sometimes their books and remember

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Publication Date
Sun Nov 09 2025
Journal Name
Journal Of The Iraqi University
The legal system of Administrative BOT Contracts
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Publication Date
Thu Jun 01 2017
Journal Name
International Journal Of Advanced Research
Article Detail - International Journal of Advanced Research
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The bandwidth requirements of the telecommunication network users increased rapidly during the last decades. Optical access technologies must provide the bandwidth demand for each user.The passive optical

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