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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 Jan 01 2024
Journal Name
Bio Web Of Conferences
An overview of machine learning classification techniques
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Machine learning (ML) is a key component within the broader field of artificial intelligence (AI) that employs statistical methods to empower computers with the ability to learn and make decisions autonomously, without the need for explicit programming. It is founded on the concept that computers can acquire knowledge from data, identify patterns, and draw conclusions with minimal human intervention. The main categories of ML include supervised learning, unsupervised learning, semisupervised learning, and reinforcement learning. Supervised learning involves training models using labelled datasets and comprises two primary forms: classification and regression. Regression is used for continuous output, while classification is employed

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Publication Date
Thu Sep 16 2021
Journal Name
International Journal Of Clinical Practice
An overview of post‐COVID‐19 complications
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Publication Date
Thu Sep 15 2022
Journal Name
Journal Of Baghdad College Of Dentistry
Different Methods of Canine Retraction- Part 1
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Background: This review aimed at explaining different methods of canine retraction along the archwire. Methods: Searching for different methods of canine retraction using fixed orthodontic appliances was carried out using different databases, including PubMed Central, Science Direct, Wiley Online Library, the Cochrane Library, Textbooks, Google Scholar, Research Gate, and hand searching from 1930 till February 2022. Results: After excluding the duplicate articles, papers describing the methods of canine retraction along the archwires were included. The most commonly used methods are NiTi closed coil spring and elastic chain. Conclusions: Various methods of canine retraction along the archwires were explained in detail regarding their adv

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Publication Date
Thu Mar 05 2020
Journal Name
International Journal Of Psychosocial Rehabilitation
The history of rhythmic gymnastics for women
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Publication Date
Sun Mar 01 2009
Journal Name
Al-khwarizmi Engineering Journal
Monitoring and Quality Control of Stud Welding
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This study is conducted to carry out a straightforward way appropriate for quality monitoring and stability of arc stud welding process, followed by a number of procedures to control the quality of welded samples, namely torque destructive testing and visual inspection context.  Those procedures were being performed to support the monitoring system and verify its validity. Thus, continuous on-line monitoring guarantees earlier discovering stud welding defects and avoiding weld repeatability. On-line welding electronic monitoring system is for non destructive determining if a just completed weld is satisfactory or unsatisfactory, depending on welding current peak value detected by the system. Also, it has been observed significant ha

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Publication Date
Fri Dec 15 2023
Journal Name
Al-academy
Manifestations of femininity in Mahmoud Fahmy's drawings
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This tagged research deals with the manifestations of femininity in Mahmoud Fahmy's drawings by studying and monitoring the presence and how women were represented in the drawings of the artist Mahmoud Fahmy. Through the drawings of the expatriate Iraqi artist, Mahmoud Fahmy, in highlighting the manifestations of beauty for women, which constitute a formal characteristic that appears through the body, and Fahmy depicts it in an atmosphere of realism at times and magical realism at other times, as the research consists of four chapters. Through the following question: Did femininity appear in the drawings of the artist Mahmoud Fahmy? The importance of the research is that it sheds light on the manifestations of femininity in the drawings

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Publication Date
Wed Jan 01 2025
Journal Name
Journal Of Discrete Mathematical Sciences And Cryptography
Cubic bipolar ideals of a TM-algebra
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This paper refers to studying some types of ideals, specifically cubic bipolar ideals and cubic bipolar T-ideals of TM algebra. It also introduces a cubic bipolar sub-TM-algebra and several important properties of these concepts. The relationships between these ideals and characterizations of cubic bipolar T-ideals are investigated.

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Publication Date
Wed Jan 01 2020
Journal Name
Cogent Engineering
On the computational aspects of Charlier polynomials
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Publication Date
Sun Mar 04 2018
Journal Name
Baghdad Science Journal
Effect of Ochratoxin-A on Mouse Embryos
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This study sought to determine malformation caused by Ochratoxin-A (OTA) on mouse embryos. Twenty adult female white Swiss mice (mus msculus) were divided into four groups, with five females per group, and with one male placed with two females in a cage. Avaginal plug was observed in the early morning and the day of mating was considered as day of pregnancy followed by the first day of pregnancy. Three sub lethal concentrations of OTA were applied to the respective groups (other than the control), 1mg/kg, 2mg/kg and 4mg/kg. The animals were given 0.1 ml per 10 gm body weight per concentration of OTA once a day during days 7-14 of pregnancy. The control group animals were given distilled water. The pregnant mice were dissected, and the embry

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Publication Date
Sun Aug 19 2018
Journal Name
Advances In Civil Engineering
Moisture Susceptibility of Sustainable Warm Mix Asphalt
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Sustainable pavements are pavements that meet the requirements of present generation without influencing the capability of the future generation to meet their needs. One of the problems of the warm mix asphalt is that it has low resistance to moisture damage; therefore, the aim of this research paper is to study the possibility of producing more durable warm mixes against the moisture damage with the use of recycled concrete aggregate (RCA) which has not been studied before. Six replacement rates (0, 20, 40, 60, 80, and 100%) for the coarse version aggregate (VA) with RCA were studied. The Marshall mix design method was used to determine the optimum asphalt cement content for each replacement rate. Thereafter, specimens with the opt

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