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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 2018
Journal Name
Journal Of Baghdad College Of Dentistry
The relation of maxillary root apices and the maxillary sinus floor among patients with different skeletal patterns in Iraqi samples
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Background: Understanding the morphological characteristics between the floor of the maxillary sinus and the tips of the maxillary posterior roots is crucial in orthodontics involving diagnosis and treatment planning. The aim of this study was to evaluate the distances from the maxillary posterior root apices to the inferior wall of the maxillary sinus, thickness and density of maxillary sinus floor using cone-beam computed tomography images and the relationships between roots and maxillary sinus according to gonial angle and skeletal pattern. Materials and methods: Three-dimensional images of each root were checked, and the distances were measured along the true vertical axis from the apex of the root to the sinus floor, and the thickne

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Publication Date
Thu May 30 2024
Journal Name
Iraqi Journal Of Science
Single Nucleotide Polymorphism of Interleukin-28β Subunit Genes Predict Host Susceptibility to Hepatitis C virus (HCV) Infection among Iraqi Patients
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Hepatitis C virus (HCV) is a liver disease that affects14 million people. Feasible research was conducted for identifying the genotypes and allele frequency of some single nucleotide polymorphisms (SNPs) of the IL-28β genes and their predictive role in disease incidence in Iraqi patients. The SNPs (rs28416813, rs4803219, rs11881222, and rs8103142) of IL-28β have been associated with susceptibility to several diseases. Ninety eight (98) HCV patients were included in this research; with average age ± SE (42.28 ± 3.44) years. Also, 80 healthy people (with average age ± SE (29.40 ± 2.84) years) were included as a control group. The SNPs were detected by allele-specific PCR (polymerase chain reaction) using specific primers. The re

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Publication Date
Wed Oct 18 2023
Journal Name
Iraqi National Journal Of Nursing Specialties
Barriers to Dietary Compliance among Diabetic Patients
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The aim of the study is to identify the barriers to dietary compliance among diabetic patients.
Methodology: The sample of the study consist of 100 patients who were divided into two groups according to
the type of diabetes mellitus; type 1 (Insulin-dependent diabetic mellitus), and type n (Non-Insulin dependent
diabetes mellitus). Each group consists of 50 patient selected randomly at each visit to Al-Waffa center in Mosul
city during the period from (1-12-2005) to (1-2-2006).
The steps of the study include recording the different barriers for diabetic patients. The questionnaire
was used and special list was utilized for such purpose.
Results: The results shows that there were some barriers most common such as both

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Publication Date
Fri Jun 07 2024
Journal Name
Medicine
Impact of TYMS gene polymorphism on the outcome of methotrexate treatment in a sample of Iraqi rheumatoid arthritis patients – identification of novel single nucleotide polymorphism: Cross-sectional study
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The current work aims to evaluate the association between genetic mutations in thymidylate synthetase (TYMS gene in exon1 and partial regions of promotor and intron 1 [877 bp, 657,220–658,096 bp]) and the therapeutic outcomes for rheumatoid arthritis (RA) Iraqi patients. An observational cross-sectional study involving 95 RA patients with established RA patients based on their methotrexate treatment responsiveness. Genetic sequencing of the TYMS gene was performed for all patients according to the instruction manuals of the sequencing company (Macrogen Inc. Geumchen, South Korea). Four polymorphisms were identified by sequencing 95 randomly selected patients in the noncoding region of TYMS

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Publication Date
Mon Aug 15 2022
Journal Name
Revis Bionatura
ND2 Gene Sequencing of Sub fertile Patients Recovered from COVID-19 in Association with Toxoplasmosis
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A total of (90) blood samples were collected from male patients infected with Toxoplasmosis who recovered from COVID- 19 and attended Kamal Alsamiraai Hospital from 15 January to 15 September 2021. We measured anti-Toxoplasma antibodies (IgG and IgM) detected by ELISA, whereas Anti-COVID-19 antibodies (IgG and IgM) were estimated using Elisa and Afilias. The semen characteristics were also studied among fertile, healthy individuals (control group) and sub-fertile patients. Results showed that the mean sperm count was high among the control group (40.5±1.3x 106/ml) compared with that of the sub-fertile patients (10.3±1.75 and 8.8±1.9 x 106/ml for oligozoospermia, and oligoasthenozoospermia respectively), and it was the highest (44.7±1.4

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Publication Date
Mon Dec 24 2018
Journal Name
Bulletin Of The Iraq Natural History Museum (p-issn: 1017-8678 , E-issn: 2311-9799)
MOLECULAR IDENTIFICATION AND PHYLOGENETIC-TREE ANALYSIS OF MONIEZIA SPECIES FROM SHEEP IN AL-DIWANIYAH CITY
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    The present study was performed to detect the molecular and the phylogenetic identification of species that belonging to the genus of Moniezia Blanchard, 1891 which affected intestines of sheep in Al-Diwaniyah city, Iraq; fifty intestine samples were sought for the infestation of Moniezia spp. from the city slaughterhouse from 1 October to 30 November 2017, this tapeworm was found to infest the intestines of 13 sheep.

 

    For morphological identify the genus of this tapeworm, eggs from one gravid proglottid of the thirteen worms were examined, polymerase chain reaction (PCR) and the PCR-product-based sequencing were applied on 4 Moniezia tapeworms targeti

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Publication Date
Wed Sep 10 2025
Journal Name
Journal Of Baghdad College Of Dentistry
Immunohistochemical expression of Cyclin D1 in mucoepidermoid and adenoid cystic carcinoma of the salivary glands
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Background: Cyclin D1 proto-oncogene is an important regulator of (G1 to S) phase progression in many different cell types. The Aims of this study were to evaluate the immunohistochemical expression of Cyclin D1 in mucoepidermoid and adenoid cystic carcinoma of the salivary glands and to correlate the immunoexpression of this protein with the clinicopathological findings. Materials and methods Retrospectively, twelve of archival formalin fixed paraffin embedded tissue samples of salivary Mucoepidermoid and fourteen blocks of adenoid cystic carcinomas obtained from the archives of the department of oral pathology / college of dentistry / Baghdad university, Al-Shaheed Ghazi hospital, were included in this study. Five micrometer sections o

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Publication Date
Mon Jan 01 2024
Journal Name
Wiadomości Lekarskie
Chemo-sensory loss and FUT2 gene in COVID-19 infected Iraqi dentists
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Aim: To find any association between specific ABO blood groups and FUT2 secretory status and COVID-19 in a sample of Iraqi dentists. Materials and Methods: For each participant, a questionnaire including demography, COVID-19 status, blood grouping, and RH factor, with chemo-sensitive symptoms was recorded. The saliva samples were collected and DNA was extracted from leukocytes. Sequencing of molecular detection of the FUT2 gene by real-time PCR and the data was done, whilst drawing the phylogenetic tree. Results: Out of 133, most of the dentists were female 61%, most were just under 35 years of age. The most participants in this study were predominantly with blood group O (40%), followed by B, A, and AB, with (90%) of them were RH+.

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Publication Date
Thu Mar 03 2022
Journal Name
Archives Of Rheumatology
Association of tumor necrosis factor-alpha promoter region gene polymorphism at positions -308G/A, -857C/T, and -863C/A with etanercept response in Iraqi rheumatoid arthritis patients
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Objectives: This study aims to evaluate the association between polymorphisms in the promoter region of the tumor necrosis factor-alpha (TNF-α) gene at locations -308G/A, -857C/T, and -863C/A with the tendency of being non-responder to etanercept.

Patients and methods: Between October 2020 and August 2021, a total of 80 patients (10 males, 70 females; mean age: 50 years; range, 30 to 72 years) with rheumatoid arthritis (RA) receiving etanercept for at least six months were included. The patients were divided into two groups responders and non-responders, based on their response after six months of continuous treatment. Following polymerase chain reac

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Publication Date
Wed Mar 10 2021
Journal Name
Baghdad Science Journal
incidence of vulvovaginal candidiasis among iraqi women
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this worl was carried oit on 50 woman they were attended to the gynecological out patinetand non albicans vared among age group

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