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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
Wed Dec 12 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
Assessment of Weight Gain Post Treatment with Biological Compounds among A Sample of Patients Attending Baghdad Teaching Hospital
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Objective: to evaluate the increase in weight after biological agents and the association of weight gain with the body mass index among a sample of patients attending Baghdad Teaching Hospital Methods: A prospective study is carried out in Baghdad teaching hospital biological units and outpatient clinic of rheumatology for a period of one year starting On April 2015 and ending on March 2016. 120 patients were included in the study 40 psoriatic arthritis .40 ankylosing spondylitis and 40 rheumatoid arthritis Results : The study findings indicate that significance differences are seen regarding weight gain and b

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Publication Date
Tue Jun 01 2021
Journal Name
Al- Anbar Medical Journal
Evaluation of Antimicrobial Activity of Plants Extract Against Bacterial Pathogens Isolated from Urinary Tract Infection among Males Patients
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Publication Date
Tue May 01 2018
Journal Name
International Journal Of Medical Research & Health Sciences
Estimation of Serum Matrix Metalloproteinases-1 Levels in Iraqi Female Patients with Osteoarthritis
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This study was established to investigate the correlation between the expression of matrix metalloproteinases (MMP-1) and the pathogenesis of osteoarthritis (OA). Blood samples were collected from 55 female patients with inflammatory OA and controls for estimation of serum (MMP-1) levels. In the current study, there is significant increase (p<0.001) in the mean of serum MMP-1 levels in osteoarthritis females (4027.73 ± 1345.28 pg/ml) than that in control females (798.76 ± 136.79 pg/ml). It was concluded that MMP-1 may be associated with the pathogenesis of osteoarthritis.

Publication Date
Mon Apr 01 2019
Journal Name
Biochemical And Cellular Archives
Association Of Human Cytomegalovirus With Her2 Protooncogene Overexpression In Iraqi Breast Cancer Patients
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Human cytomegalovirus (HCMV) has a worldwide distribution and common infections. The presence of HCMV genome and antigens has been detected in many kinds of human cancers. The proto-oncogene Her2/neu is overexpressed in 25% to 30% of human breast cancers and frequently associated with tumor aggressiveness and worse prognosis. Examination was applied to detect different HCMV antigens and to demonstrate their correlation with Her2/neu overexpression in breast cancer. The present study includes samples from 70 women of 60 breast cancer patients and 10 normal breast tissues. Formalin-fixed paraffin embedded tissue blocks were obtained from each woman according to ethical approval. Human cytomegalovirus early antigen expression was detected in 5

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Publication Date
Fri Oct 11 2019
Journal Name
Open Access Macedonian Journal Of Medical Sciences
Immunohistochemical Expression of Epidermal Growth Factor Receptor in Astrocytic Tumors in Iraqi Patients
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BACKGROUND: Diffuse astrocytomas constitute the largest group of primary malignant human intracranial tumours. They are classified by the World Health Organization (WHO) into three histological malignancy grades: diffuse astrocytomas (grade II), anaplastic astrocytomas (grade III) and glioblastoma (grade IV) based on histopathological features such as cellular atypia, mitotic activity, necrosis and microvascular proliferation. Epidermal growth factor receptor (EGFR) is a 170-kDa transmembrane tyrosine kinase receptor expressed in a variety of normal and malignant cells regulating critical cellular processes. When activated, epidermal growth factor receptor (EGFR) triggers several signalling cascades leading to increased proliferatio

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Publication Date
Thu Mar 07 2024
Journal Name
Problems Of Endocrinology
KI-67 as a predictive indicator of papillary thyroid cancer in Iraqi patients
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BACKGROUND. KI-67 (MKI-67 in humans) is a protein able to bind to DNA which contributes to cell growth and cell proliferation. KI-67 is currently considered as a biomarker that is widely utilized as prognostic indicator for evaluating cell proliferation, diagnosing diseases, and conducting research. Several different kinds of cancer have high Ki-67 expression, which simplifying the choice of treatment for individuals with various cancer types.AIM. The objective was to evaluate the expression of KI67 in patients suffering papillary thyroid cancer (PTC) also the association between patients age and gender and KI67 expression.MATERIALS AND METHODS. To undertake an in-

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Publication Date
Tue May 11 2021
Journal Name
Research J. Pharm. And Tech
Association of Serum Renal Function Levels with Heart Failure Disease in Iraqi Patients
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Renal function tests are commonly used in clinical practice to look for renal disease, the most common includes the serum urea, uric acid and creatinine. Heart failure patients have a higher incidence of renal function test abnormalities than individuals who do not have heart failure disease. Fifty subjects of adults (male) were divided in to two groups, 25 subjects (healthy) as control (group1) and 25 subjects with heart failure (group 2). Our results indicate that serum uric acid, urea, and creatinine values were significantly elevated (P≤0.05) in patients group (2) compared with healthy group (1). The results also showed, the effect of age categories on uric acid blood urea nitrogen and creatinine values (P≤0.05) and there were no si

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Publication Date
Thu Jul 01 2010
Journal Name
Clinical And Experimental Rheumatology
RE-EVALUATION OF PATHERGY TEST IN IRAQI PATIENTS WITH BEHCET&#39;S DISEASE
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KE Sharquie, R Hayani, J Al-Rawi, A Noaimi, SH Radhy, CLINICAL AND EXPERIMENTAL RHEUMATOLOGY, 2010

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Publication Date
Mon Jan 01 2018
Journal Name
Iosr Journal Of Pharmacy And Biological Sciences
Seroprevalence of Hepatitis B markers in Iraqi patients with chronic Hepatitis B virus
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To determine the seroprevalence of hepatitis B markers in chronic hepatitis B patients, 75 patients with chronic hepatitis B virus of ages (8-70) years have been investigated and compared with 50 apparently healthy individuals. All the studied groups were carried out to measure (HBsAg), (HBsAb), (HBeAg), (HBeAb), and (Total HBcAb) by Enzyme linked immunosorbent assay (ELISA) technique. The percentage distribution of HBsAg was (86.67%) and HBsAb was (1.33%) in sera of CHB patients and there were a highly significant differences (P<0.01) when compared between studied groups, while, the percentage distribution of HBeAg was (22.67%) in sera of CHB patients and the significant represent the difference in distribution of HBeAg as infection but no

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Publication Date
Sun Mar 03 2013
Journal Name
Baghdad Science Journal
The Association of Myasthenia Gravis with HLA class II Antigens in Iraqi Patients
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The nature and intensity of the association of myasthenia gravis (MG) with distinct human leukocyte antigen (HLA) haplotypes differ between ethnic populations, so this study determined the association of HLA class II antigens with myasthenia gravis (MG) in Iraq.The study included Iraqi patients diagnosed with MG and two control groups the first of 54 insulin dependent diabetes mellitus patients and the second of 237 subjects as a normal control group. The test used was microlymphocytotoxicity test.The work was done in the Teaching Laboratories/Medical City/Baghdad.Results: positive associations were observed (etiological risk factors) as follows: 1. HLA-DR locus showed one positively associated allele when compared to healthy control and th

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