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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
Sun Jul 01 2018
Journal Name
The Iraqi Postgraduate Medical Journal
Molecular and Serologic Detection of HLA-B27 among Ankylosing Spondylitis Patients with Some Clinical Correlations
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BACKGROUND: HLA-B27 can effect clinical presentation and course of ankylosing spondylitis. Different detection techniques of HLA-B27 are available with variable sensitivities and specificities. OBJECTIVE: To compare serologic and molecular diagnostic techniques of detecting HLA-B27 status and to correlate it with some clinical variables among ankylosing spondylitis patients. PATIENTS AND METHODS: A cross-sectional study was conducted on 83 Iraqi patients with ankylosing spondylitis. Clinical and laboratory evaluations were reported. HLA-B27 status was determined in all patients by real-time PCR using HLA-B27 RealFast™ kit; ELISA method was used as well to detect soluble serum HLA-B27 antigens using Human Leukocyte Antigen® kit. RESULTS:

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Publication Date
Mon Aug 22 2022
Journal Name
Biochemical And Cellular Archives
Deregulation of autophagy flux and gene expression induced by tobacco smoke among Iraqi smokers.
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: Cigarette smoking is a lifestyle behavior that causes significant adverse health effects. Cigarette smoke contains chemicals, many of which are lead to the production of reactive oxygen species (ROS), which can lead to apoptosis and autophagy. To estimate the association of Cigarette smoking with the autophagy and immunity, technology of real time polymerase chain reaction (RTPCR) for gene expression of (LC3A, LC3B, LC3C, myd88) was used. Enzyme-linked immunosorbent assay (ELISA) technique was utilized to measurement the amount of TNF-α protein. The ratios of LC3A/LC3B and LC3B/LC3C were calculated to estimate the autophagy flux. The results indicate the expression of LC3B, LC3C and Myd88 genes in smokers is increased significantly (p

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Publication Date
Fri Jan 19 2024
Journal Name
Baghdad Science Journal
GRHPR gene variations in Iraqi patients infected with calcium oxalate kidney stones
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      The alterations in glyoxylate reductase and hydroxy-pyruvate reductase concentrations in the sera and the genetic alterations associated with calcium oxalate kidney stones in Iraqi patients were not studied previously so this study aimed to focus on these points. This study included 80 subjects; they were 50 patients with calcium oxalate stones compared to 30 apparently healthy controls. Biochemical investigations for kidney functions (creatinine, urea, and uric acid), were performed on the sera of both groups. Also, complete blood count, random blood sugar, and blood group tests. Furthermore, urine had been collected for General Urine Examination to visualize oxalate crystals in the urine of the patient. Also, the GRHPR

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Publication Date
Thu Jun 08 2017
Journal Name
Ibn Al-haitham Journal For Pure And Applied Sciences
Detection of BRAF Gene in Some Iraqi Bowel Inflammation and Colorectal Cancer Patients
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The impacts of the inflammatory process on neoplasia development were observed in many cancer, it has a great role in the etiology, development and progression of invasive colorectal tumors. This study was designed to investigate the BRAF mutation and assist the clinicopathological parameter in some Iraqi bowel inflammation and colorectal cancer patients. Thirty patients were enrolled in this study (15 suffering bowel inflammation and 15 having colorectal cancer). BRAF gene was screened for the presence of mutations using PCR technique and direct  sequencing. .The results revealed no BRAF mutation in position 1799 for exon fifteen in both samples of bowel inflammation and colorectal cancer. These results were confirmed previous arti

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Publication Date
Mon Jun 01 2020
Journal Name
P J M H S
The influence of Breast Cancer Molecular Subtypes on Metastatic pattern in Iraqi patients
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Publication Date
Thu Jun 30 2011
Journal Name
Fac Med Baghdad
Prevalence of Anemia among Iraqi Patients after Renal Transplantation
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Background: Although the issue of anemia after renal transplantation (RT) has received increasing attention lately, the data on the exact prevalence of post-transplantation anemia (PTA) in the Iraqi patients are limited. Objective: In this study we sought to determine the prevalence of PTA among Iraqi patients and to correlate the renal allograft function measurements and the use of immunosuppressant with the prevalence of anemia. Patients and Methods: One hundred and twelve (74 male, 38 female) kidney transplant recipients (KTR) attending the kidney transplant center at surgical specialties hospital were studied. All patients were on maintenance, combined immunosuppressive therapy. The renal function tests [blood urea, serum cre

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Publication Date
Tue Jun 30 2015
Journal Name
Al-kindy College Medical Journal
Gene frequency and haplotype analysis of HLA class I in patients with simple renal cysts
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Background: The study of human leukocytes (HLA) alleles, and haplotype frequencies within populations provide an important source of information for anthropological investigation, organ and hematopoietic stem cell transplantation as well as disease association, certain diseases showed association with specific alleles specially those of known or suspected hereditary origin or immunological basis, whether simple renal cyst is congenital or acquired is still unclear and need to be investigated.Objectives: To study the genetic aspect of simple renal cysts by detecting the gene frequency and the haplotype of HLA class I of patients with simple renal cysts, and to find the presence of these cysts in other family members.Method: Thirty patient

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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
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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