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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
Thu Nov 16 2023
Journal Name
Al-rafidain Journal Of Medical Sciences ( Issn 2789-3219 )
Evaluating TLR4 Gene Expression to Monitor Disease Progression in Iraqi Patients with Rheumatoid Arthritis
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Background: Toll-like receptors (TLRs) play a significant role in the activation of adaptive immunity and may have an essential role in the development of rheumatoid arthritis (RA). Objectives: To assess the gene expression of TLR4 in individuals with RA compared to healthy individuals. Methods: From July to December 2022. A total of 100 individuals were encompassed in the study, consisting of 50 individuals diagnosed with RA, of whom 42 were females and 8 were males, with an average age of 45.22 years. Additionally, there were 50 healthy control participants, 40 of whom were females and 10 were males, with an average age of 45.64 years. To assess the TLR4 transcript levels, blood samples were collected from each participant, and RN

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Publication Date
Wed Jan 02 2008
Journal Name
Journal Of The Faculty Of Medicine Baghdad
Viral Load Among the Sera of Iraqi Hepatitis C Virus Patients
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Background:
Hepatitis C Virus is the main causative agent of hepatitis among blood transfused patients, in which most chronic cases result in liver carcinoma.
Materials & Methods:
Enzyme-Linked Immunosorbent Assay for HCV, FNF- and IL-12p40 estimation with Recombinant Immunoblotting Assay (RIBA) as a confirmatory test for HCV, have been
applied for HCV detection in 80 HCV patients' samples in comparison with 30 samples for apparently healthy control, while viral load has been estimated using Branched-DNA (b-
DNA) technique for 32 randomly selected positive cases for HCV. Liver function test has been applied for patients' sera in comparison with control.
Results & Conclusions:
This study re

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Publication Date
Sun Jun 21 2020
Journal Name
Baghdad Science Journal
Detection of Aflatoxin B1 among Early and Middle Childhood Iraqi Patients
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      The study was conducted for the detection of Aflatoxin B1(AFB1) in the serum and urine of 42 early and middle childhood patients (26 male and  16 female ) with renal function disease, liver function disease, in additional to atrophy in the growth and other symptoms depending on the information within consent obtained from each patient, in addition to 8 children, apparently healthy, as  the control. The technique of HPLC was used for the detection of AFB1 from all samples. The results showed that out of 42 patient children, 19 (45.2%) gave positive detection of AFB1 in the serum among all age groups patients with a mean of 0.88 ng/ml and a range of (0.12-3.04) ng/ml. This was compared with the cont

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Publication Date
Tue Apr 01 2014
Journal Name
Journal Of The Faculty Of Medicine Baghdad
Hepatitis G virus infection among Iraqi patients on maintenance hemodialysis
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Background: Patients on maintenance hemodialysis are at increased risk of infection with parentally transmitted viral agents. In recent years a high prevalence of hepatitis G virus infection among end stage renal diseases and chronic hemodialysis patients has been well documented.
Objectives: To assess the percentage and risk factors of HGV in hemodialysis patients, and to evaluate the clinical consequences of HGV in this population.
Patients and methods: Fifty (50) patients with chronic renal failure who underwent maintenance hemodialysis. Patients were currently attending hemodialysis department of Baghdad teaching hospital during the period of October 2011 to January 2012, compared to forty one (41) healthy blood donors who unde

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Publication Date
Sat Sep 30 2023
Journal Name
Iraqi Journal Of Science
Association of SCARB1 Gene Expression with Chronic Myeloid Leukemia Progression in a Sample of Iraqi Patients
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     The present research design examines the relationship between SCARB1 gene expression and the progression of chronic myeloid leukemia (CML) in Iraqi patients. The variations in gene expression between patients with CML and healthy controls were investigated. The gender and age correlations with CML patients were included, as was the association of gene expression folding of the SCARB1 gene with clinical data (WBC, RBC, hemoglobin, platelets, and BCR-ABL gene). The results displayed a significant difference in the mean gene expression level (∆Ct) of the CML group when compared to the matching ∆Ct values in the healthy control group. The gene expression folding of the SCARB1 gene indicates considerable changes in expression, wh

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Publication Date
Tue Mar 01 2022
Journal Name
Iraqi Journal Of Agricultural Sciences
CORRELATION OF TMPRSS2-ERG GENE FUSION STATUS WITH CLINICOPATHOLOGICAL CHARACTERISTICS IN PROSTATE CANCER OF IRAQI PATIENTS
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Publication Date
Wed Jun 29 2022
Journal Name
Iraqi Journal Of Agricultural Sciences
CORRELATION OF TMPRSS2-ERG GENE FUSION STATUS WITH CLINICOPATHOLOGICAL CHARACTERISTICS IN PROSTATE CANCER OF IRAQI PATIENTS
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The aim of this study was to establish the existence and interaction of TMPRSS2 – ERG gene fusion status with clinicopathological features of prostate cancer patients. This research consisted of 123 embedded formalin-fixed tissues obtained from the prostate tumor patients. The above gene fusion is detected through the technique of fluorescent in situ hybridization (FISH) by means of a triple color probe. Seven samples have not been scored due to technical difficulties and 46 patients have fusion (39.6%), while the remaining (70) have not been seen with fusion. Of the 46 fusion-positive, 17 (36%) were caused by ERG-translocation, of the other 29 (63%) were caused by the interstitial segment deletion between the two genes due to the

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Publication Date
Mon Jun 30 2014
Journal Name
Al-kindy College Medical Journal
Surgical variables analysis of 116 cases of ovarian cystic diseases in Al- Elwiya maternity teaching hospital at 2013
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Background: The treatment of an ovarian cyst relies on its nature, the discrimination of benign and malignant cysts is, therefore of crucial importance, and in spite of the continuous improvement of diagnostic means, it remains sometimes impossible to differentiate functional from organic (malignant or not) ovarian cysts. The therapeutic decision will search for the main midway between cancer’s negligence and the fear of performing an unnecessary surgical operation for an ovarian cyst.Objective: To review of 116 cases of ovarian cystic diseases aiming in identify proper management and reducing unnecessary surgical intervention.Methods: A retrospective study was conducted at Al-Elwiya maternity teaching hospital/ Baghdad/ Iraq. One hund

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Publication Date
Thu Jan 14 2016
Journal Name
International Journal For Sciences And Technology
Evaluation of her/2-neu gene status using FISH/CISH techniques in Iraqi breast carcinoma patients
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The present study aimed to examine the concordance between FISH/CISH techniques for assessment of amplification of her2neu gene in Iraqi breast carcinoma patients. Seventy four (74) Iraqi breast cancer patients were involved at the study from the Histopathology Department at the Central Public Health Laboratory in Bagdad, Iraq. Amplification of HER2neu was detected in (33.8%) by fluorescence in situ hybridization and (13.51%) showed high amplification by chromogenic in situ hybridization and (32.43%) showed low amplification. The results of chromogenic in situ hybridization were significantly correlated with the results of two-color fluorescence in situ hybridization with the same tumors. In addition, the study involved the correlation betw

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Publication Date
Fri Dec 30 2022
Journal Name
Iraqi Journal Of Science
MTHFR Gene Polymorphisms in Iraqi Kurdish Rheumatoid Arthritis Patients: Relation to Methotrexate Response and Toxicity
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     Methotrexate (MTX) is still one of the gold standard treatments for rheumatoid arthritis (RA). It shows diverse outcomes in blood level and clinical response, this was demonstrated by its relation to the genetic polymorphism in the pharmacogenetic study. This study aimed to investigate the role of methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms in relation to MTX efficacy and toxicity in Iraqi Kurdish RA patients. Sixty-four RA patients were involved in this study with an average age of 47.78 ±14.08 and female to male ratio of (8.1). Diagnosis and disease activity were confirmed. Blood analyses, including those of laboratory markers of disease activity, were done. The 28 joint disease activity score (DAS28-CRP) w

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