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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 Aug 01 2023
Journal Name
Biochemical And Cellular Archives
Interleukin-32(IL-32) gene expression in Iraqi chronic hepatitis B virus patients
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Hepatitis B infection is a prominent infectious disease caused by hepatitis B virus (HBV), which infect liver and is considered as the main cause of liver cirrhosis, fibrosis and liver cancer worldwide. A pro-inflammatory cytokine Interleukin32 is believed to have a role in chronic HBV infections. Since its role in CHB infections is remain unclear, this study was done to detect IL-32 gene expression in CHB patients in order to identify its exact role. A total number of 110 blood samples were collected from Gastroenterology and Hepatology Teaching Hospital in Baghdad Medical City from CHB patients for both males and females with different age groups according to the research ethics form then sent to Central Public Health Laboratory (CPHL),

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Publication Date
Mon Jul 25 2022
Journal Name
International Journal Of Health Sciences
Sequencing of ca-int-l gene of Candida Spp. In infected urinary tract among Iraqi women
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The most common nosocomial fungal infection in hospitals is urinary tract candidiasis. Candida albicans is the most prevalent cause of nosocomial fungal urinary tract infections, however Candida species distribution is changing rapidly. At the same time, the rise in urinary tract candidiasis has resulted in the emergence of antifungal-resistant Candida species. This study aimed to diagnose Candida Spp. In women with UTI and reveal the nucleotides sequences of CA-INT-L Gene to look for mutation within the gene. This study included 100 women patients suffering from urinary tract infections and vaginal swabs samples from those individuals were taken to identify the presence of Candida. They were between the ages of 22 and 67. Candida i

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Publication Date
Sun Jun 03 2018
Journal Name
Baghdad Science Journal
Gene Expression and Polymorphism of Interleukin-4 in a Sample of Iraqi Rheumatoid Arthritis Patients
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It was aimed to understand the interleukin-4 (IL-4) role in etio-pathogenesis of rheumatoid arthritis (RA). Two approaches were adopted. In the first one, a quantitative expression of IL4 gene was assessed by reverse transcription-quantitative polymerase chain reaction (RT-qPCR), and such findings were correlated with some demographic, clinical and laboratory parameters, which included gender, duration of disease, disease activity score (DAS-28), rheumatoid factors (RFs), C-reactive protein (CRP) and anti-cyclic citrullinated peptide (ACCP) antibodies. In the second approach, a single nucleotide polymorphism (SNP) of IL4 gene (rs2243250) was inspected by DNA sequencing using specific primers. Fifty-one Iraqi RA patients (22 males and 29 fem

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Publication Date
Tue Feb 04 2014
Journal Name
American Journal Of Pharmacological Sciences
Self Medication Practice among Iraqi Patients in Baghdad City
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The practice of self medication is continuously increasing worldwide due to its important roles in curing minor conditions or symptoms. This study was conducted to evaluate the factors associated with self medication practice of Iraqi respondents residing in Baghdad City. This study was designed as cross sectional study in which data was collected via direct interviews with respondents using a previously prepared questionnaire. This study investigated 348 respondents from different age groups. The majority of respondents were male aged between 30-60 years, married with secondary or academic level of education and employed with accepted monthly income. The main reason for practicing self medication was previous experience with the same condi

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Publication Date
Wed Oct 01 2008
Journal Name
Iraqi Postgraduate Medical Journal
Angiolymphoid hyperplasia with eosinophilia (pseudopyogenic granuloma) among Iraqi patients
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KE Sharquie, MM Al-Waiz, AA Noaimi, Iraqi Postgraduate Medical Journal, 2008 - Cited by 1

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Publication Date
Sun Jan 01 2017
Journal Name
Disease Markers
Genotyping of<i> IL-4</i> −590 (C&gt;T) Gene in Iraqi Asthma Patients
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This study is the first investigation in Iraq dealing with genotyping of IL-4 −590 (C>T) gene, especially in Iraqi patients with asthma. We studied forty-eight blood samples collected from patients with asthma and compared with age-matched 25 healthy individuals as controls. The polymorphism results of IL-4 −590 (C>T) gene by using amplification refractory mutation system (ARMS-PCR) showed the presence of C and T alleles and three genotypes (CC, CT, and TT). Interestingly the frequency of C allele and CC genotype was higher in patients with asthma in comparison with the same allele and geno

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Publication Date
Wed Jan 20 2021
Journal Name
Ibn Al-haitham Journal For Pure And Applied Sciences
Sera Level and Polymorphism of Interleukin-33 Gene in Iraqi Females Patients with Breast Cancer
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Interleukin-33 [IL-33] is a specific ligand for the ST2 receptor, and a member of the
IL-1 family. It is a dual-function protein that acts both as an extracellular alarmin cytokine,
and an as an intracellular nuclear factor participates in maintaining barrier function by
regulating gene expression of IL-33 modulating tumor growth and anti-tumor immunity in
cancer patients. The present study aimed to investigate the role of IL-33 serum level and gene
polymorphism in Iraqi women with breast cancer. Materials and methods: Blood samples
were collected from 66 Iraqi patient women diagnosed with breast cancer, which were divided
into two groups: pre-treatment [PT] and under treatment with chemotherapy [UTC] patients in

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Publication Date
Sun Oct 31 2021
Journal Name
Al-rafidain Journal Of Medical Sciences ( Issn: 2789-3219 )
Evaluation of EOS Gene Expression and IL-6 Serum Levels in Iraqi Patients with Psoriasis
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Background: EOS (encoded by the IKZF4 gene) is a member of the zinc finger transcription factor IKaros family, and plays a critical role in Treg suppressor functions, and maintaining Treg stability. IL-6 is a soluble mediator with a pleiotropic effect on inflammation, immune response, and hematopoiesis. Aim: To estimate serum IL-6 level and EOS gene expression in Iraqi patients with psoriasis. Method: Twenty-two patients with psoriasis (8 females, 14 males) with age ranged 18-72 years, were recruited from Baghdad Teaching Hospital, Dermatology Clinic, Baghdad, and 24 healthy donors. The serum levels of IL-6 by ELISA and the gene expression of IKZF4 (EOS gene) by RT-qPCR technique. Results: The results showed a non-significant diffe

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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
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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