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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 Oct 12 2021
Journal Name
Neuroquantology
Biochemical Aspects in Sera of Iraqi Patients with Trigeminal Neuralgia
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Trigeminal Neuralgia (TN) is one of the most commonly painful cranial neuralgia characterized by paroxysmal attacks as short lasting facial pain along the trigeminal nerve branches. The aim of the present study is to innovate a biochemical relationship between (melatonin, GALNT12 and Zn) and TN and also to examine the biochemical action of tegretol (carbamazepine) as a treatment on the above biochemical parameters. Blood samples were collected from fifty four (54) trigeminal neuralgia patients diagnosed by magnetic radiation image (MRI). Patients were classified into four groups: G3 (40- 70) years composed of (12) diagnosed male (without treatment), G4 (48- 75) years composed of (12) diagnosed female (without treatment), G5 (34- 76)

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Publication Date
Fri Oct 01 2010
Journal Name
Iraqi Journal Of Community Medicine
Clinico-epidemiological and Histopathological Study of Syringoma in Iraqi Patients
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KE Sharquie, HA Hassan, AA Noaimi, IRAQI JOURNAL OF COMMUNITY MEDICINE, 2010

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Publication Date
Tue Jan 18 2022
Journal Name
مجلة ديالى للعلوم الصرفة
Study the gene expression of aacC1 gene in Acinetobacter baumannii that responsible for Aminoglycoside resistance
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Publication Date
Fri Feb 28 2025
Journal Name
Moroccan Journal Of Chemistry
Design, Synthesis, and Biological Evaluation of new sulfonamides derived from 2-Aminopyridine: Molecular docking, POM analysis, and identification of the pharmacophore sites
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New series of imidazole[1,2-a]pyridine-sulfonamides was designed and synthesized from 2-aminopyridine, which was reacted with p-bromo phenacyl bromide in the present of MgO to produce the corresponding imidazole[1,2-a]pyridine, which was then reacted with chlorosulfonic acid to produce 2-(4-bromophenyl)imidazole[1,2-a]pyridine-3-sulfonyl chloride [2]. Following that, treatment of (2) with different amines using the grand method to generate imidazole [1,2-a] pyridine sulfonamides. All the synthesized compounds have been characterized by FTIR, 1HNMR and 13CNMR and C.H.N analysis. The DFT, POM analysis and molecular docking were carried out on for all final compounds to investigate drug like attributes, and the results revealed showed that the

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Publication Date
Wed Dec 01 2021
Journal Name
Gene Reports
The molecular study for evaluation the antibiotic resistance of Escherichia coli and Klebsiella pneumoniae bacteria isolated from urinary tract infection patients
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Urinary tract infection is a bacterial infection that often affects the bladder and thus the urinary system. E. coli is one of the leading uropathogenic bacteria that cause urinary tract infections. Uropathogenic E. coli is highly effective and successful in causing urinary tract infections through biofilm formation and urothelial cell invasion mechanisms. Other organisms that cause urinary tract infections include members of the Enterobacteriaceae family, streptococci and staphylococci species and perch. In addition, K.penumoniae is another important gram-negative bacterium that causes urinary tract infections. With the PCR technique, unseen bacterial species can be detected using standard clinical microbiology methods. In this study, the

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Publication Date
Tue Jul 18 2023
Journal Name
Journal Of Current Researches On Social Sciences
A Study on Sociocultural Features among Turkish and Iraqi Women
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SM ADAI, BN RASHID, Journal of Current Researches on Social Sciences, 2023

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Publication Date
Fri Oct 23 2020
Journal Name
International Journal Of Dentistry
Retention Protocols and Factors Affecting Retainer Choice among Iraqi Orthodontists
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Background. To identify the most common retention protocols practiced by Iraqi orthodontists using a specially designed e-survey. Furthermore, this study aimed to assess the effect of sociodemographic factors on the participant’s choice. Methods. Two hundred and twenty-five questionnaires with 23 multiple choice questions were sent to members of the Iraqi Orthodontic Society. The questionnaire was organized into four sections representing information about sociodemographic status of the orthodontists, factors affecting the selection of the retention system, commonly used retainers in the upper arch and lower arch, and duration of the retention system. The chi-square test was used to test the significant association between differe

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Publication Date
Fri Feb 07 2020
Journal Name
Innovations In Pharmacy
Knowledge, Perception and Attitude Regarding Generic Medicines among Iraqi Physicians
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Objectives: The study aim was to explore the knowledge, perceptions, and attitudes of Iraqi physicians regarding generic and locally manufactured medicines. Methods: A total of 124 physicians were involved in this cross -sectional study. The convenience sample was collected from five public hospitals in Baghdad. A self-administered questionnaire was distributed and collected in-person. Fisher's Exact Test was used to measure the association between physician years of experience, gender and categorical (perception and knowledge) variables. Results: Most respondent answers regarding the knowledge of generic medicines were incorrect. Only up to one-third of the participants knew that generic medicines are therapeutically eq

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Publication Date
Fri Nov 01 2013
Journal Name
Journal Of Cosmetics, Dermatological Sciences And Applications
Lichen planopilaris is a common scarring alopecia among Iraqi population
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KE Sharquie, AA Noaimi, AF Hameed, Journal of Cosmetics, Dermatological Sciences and Applications, 2013 - Cited by 11

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Publication Date
Wed Sep 04 2024
Journal Name
F1000research
Posterior palatal seal recording: fact and reasons among Iraqi dentists
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Abstract* Backgrounds The retention of the maxillary complete denture may be influenced by adequate recording in the patient’s mouth, marking, and carving of the post-dam on the maxillary cast. Failure to do so may lead to loss of retention. Successful denture construction with patient’s comfort could be achieved by effective methods of recording, marking, and carving of the post-dam. The aim of the study was to assess Iraqi dentists in their knowledge and application of the post-dam in maxillary complete dentures. Methods Questionnaires were distributed randomly through online Google Forms and 118 Iraqi dentists with different academic degree participated in the study. A multinomial logistic regression model was also used to ass

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