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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 30 2023
Journal Name
Iraqi Journal Of Science
Histological Estimation of Ovaries Cystic Lesions in Iraqi Patients’ Women
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      Ovarian cystic lesions are one of the most common pathologic disorders in gynecology and a common reason for surgery. The purpose of the study was to determine the histopathologic characteristics of benign cystic ovarian lesions and their correlation to age, type, laterality, locularity, and size of ovarian cystic lesions. This is a retrospective study carried out on 100 cases from the archive in the Imam Kadhimian medical city and the educational laboratories of Baghdad medical city, out of 100 patients, the most common age group that underwent cystectomy was 20-40 years old. The vast majority of the cysts were non-neoplastic (67%) while the neoplastic cysts occupy 33% of all cysts. The most common non-neoplastic cyst was cor

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Publication Date
Wed Apr 01 2015
Journal Name
Journal Of The Faculty Of Medicine Baghdad
Molecular detection of ALS1 virulence gene of Candida albicans isolated from groups of Iraqi patients
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Background: Candida albicans is the principal fungal infectious agent in human infection. Adhesion is thought to be an essential step for colonization and establishment of Candida infections.
Objectives: Identification and comparison of ALS1 virulence gene of adhesion family among different isolates of Candida albicans by PCR.
Patients and methods: One hundred eight samples were collected from different group of Iraqi patients. All samples were culture on Sabouraud′s agar, CHROMagar for identification while API Candida kit confirmatory test and extracted DNA was done for just Candida albicans isolates, detected the ALS1 gene, extracted RNA for synthesis of cDNA and detected of gene and compare between iso

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Publication Date
Mon Jan 30 2023
Journal Name
Iraqi Journal Of Science
Analysis of Mutations in Conserved and Susceptible Regions Across the Whole Genome Sequencing Analysis for SARS-CoV-2 in Iraqi Patients
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      This study aimed to get a better understanding of molecular epidemiology and genetic variation in the spike glycoprotein as a key viral component involved in viral entrance into host cells and as a potential vaccination target. Three Iraqi SARS-CoV-2 strains were investigated using whole-genome sequencing, with two of them clustering into the 20A (GH) clade, and the remaining strain is clustered in 20E (GV) clade, belonging to the B.1.36.1 and B.1.177.80 lineage, respectively. Whole-genome sequencing of the viral RNA samples revealed nine sporadic nonsynonymous uncommon mutations with freq

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Publication Date
Fri May 11 2018
Journal Name
Biomedical And Pharmacology Journal
Molecular and Phylogenetic Analysis of Human Papillomavirus Using L1 Gene in Oral Squamous Cell Carcinoma Patients in Baghdad, Iraq
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Oral squamous cell carcinoma (OSCC) is the most common malignant neoplasm of the oral mucosa. Human papillomavirus (HPV) virus cause a broad scope of diseases from benign to invasive tumors, types 16 and 18 classified as carcinogenic to humans. This study aimed to provide the first molecular characterization of HPV types in Iraq. Thirty-five unstimulated whole saliva samples were collected from histopathologically confirmed patients with oral cancer were enrolled in this study. Genomic DNA was extracted from exfoliating cells to amplify HPV-DNA using HPV-L1 gene sequence primers by polymerase chain reaction method (PCR), the viral genotyping was performed using direct sequencing method. HPV genotypes identified were deposited in Gen

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Publication Date
Fri May 11 2018
Journal Name
Biomedical And Pharmacology Journal
Molecular and Phylogenetic Analysis of Human Papillomavirus Using L1 Gene in Oral Squamous Cell Carcinoma Patients in Baghdad, Iraq
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Oral squamous cell carcinoma (OSCC) is the most common malignant neoplasm of the oral mucosa. Human papillomavirus (HPV) virus cause a broad scope of diseases from benign to invasive tumors, types 16 and 18 classified as carcinogenic to humans. This study aimed to provide the first molecular characterization of HPV types in Iraq. Thirty-five unstimulated whole saliva samples were collected from histopathologically confirmed patients with oral cancer were enrolled in this study. Genomic DNA was extracted from exfoliating cells to amplify HPV-DNA using HPV-L1 gene sequence primers by polymerase chain reaction method (PCR), the viral genotyping was performed using direct sequencing method. HPV genotypes identified were deposited in Gen

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Publication Date
Sat Apr 01 2023
Journal Name
Journal Of Applied Hematology
Molecular Alterations in IDH 1/2 Genes among Iraqi Adult Acute Myeloid Leukemia Patients
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BACKGROUND:

The recurrent somatic variations in IDH1/2 genes in AML play imperative roles in epigenetic dysregulation and the pathogenesis of AML, which could be useful prognostic markers for risk stratification.

AIM:

The aim of the study was to detect the frequency of R132 mutations in the IDH1 gene and R140Q mutation in the IDH2 gene with their treatment outcomes.

PATIENTS
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Publication Date
Sat Dec 30 2023
Journal Name
Al-kindy College Medical Journal
The Combination of Noninvasive Tests and Fibroscan for the Assessment of Liver Fibrosis among Patients with Nonalcoholic Fatty Liver Disease
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Background: Most prevalent chronic liver disease in developed and developing nations is non-alcoholic fatty liver disease. From fatty liver, which often has benign, non-progressive clinical history, to non-alcoholic steatohepatitis, a more serious variant of fatty liver that can lead to cirrhosis and end-stage liver disease, non-alcoholic fatty liver disease encompasses broad spectrum of diseases. The gold standard for determining extent of hepatic fibrosis is still liver biopsy; however, number of noninvasive tests have been established to make diagnosis and assess effectiveness of treatment.

Objective: Aim of study was to assess effectiveness of the combination of fibroscan and

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Publication Date
Wed Oct 28 2020
Journal Name
Iraqi Journal Of Science
Molecular Study of Regulatory Gene (Ler) in Enteropathogenic Escherichia Coli (EPEC) of Diarrheagenic Patients
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The locus of enterocyte effacement LEE-encoded regulator (Ler( is a global regulator of multiple virulence genes expression in the Enteropathogenic Escherichia coli (EPEC), including those encoding the type III secretion pathway and adhesion proteins such as intimin. Ler is central to the process of the formation of the attaching and effacing (AE) lesions. This study aimed to perform the molecular detection of Ler gene in EPEC, since there is no related previous study in Iraq. Two hundred and fifty stool specimens from children under two years of age for both sexes were collected from some Iraqi hospitals. All isolates were diagnosed according to morphological characteristics and biochemical tests. The results showed th

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Publication Date
Mon Jan 30 2023
Journal Name
Iraqi Journal Of Science
Qualitative and Quantitative Molecular Analysis of Epstein-Barr Virus in Iraqi Patients with Relapsing-Remitting Multiple Sclerosis
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    Multiple sclerosis (MS) is a neuro-inflammatory disorder in which the Epstein-Barr virus (EBV) is proposed to have a pathogenic role. Therefore, a case-control study was performed (93 patients with relapsing-remitting MS and 113 healthy controls (HC) to analyze the prevalence and viral load of EBV infection using real time-polymerase chain reaction. Prevalence of EBV infection was lower in patients compared to HC but the difference was not significant (12.9 vs. 21.2%; probability [p] = 0.187). EBV-positive MS cases were more common in females than in males (83.3 vs. 16.7%), while an opposite distribution was observed in HC (37.5 vs. 62.5%), and the difference was significant (p = 0.041). Blood group O frequency was higher in EBV-p

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Publication Date
Sun Apr 02 2017
Journal Name
Journal Of The Faculty Of Medicine Baghdad
Forkhead box P3 gene expression and chromosomal analysis in a sample of Iraqi patients with multiple sclerosis
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Background: Multiple Sclerosis disease is a demyelination process which interferes with the neuronal signal transmission, thus leading to different cognitive and physical dysfunctions like optic neuritis, motor, sensory and coordination problems. Recently many researches have been directed toward studying the relation between some genes and multiple sclerosis. Among the important genes to be studied in multiple sclerosis is the forkhead box P3 gene expression.
Objectives: The aims of the present work were to study the expression of forkhead box P3 gene by real time polymerase chain reaction, and to perform chromosomal analysis on the multiple sclerosis patients peripheral blood lymphocytes.
Patients and methods: A case-control stud

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