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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 Mar 17 2019
Journal Name
Baghdad Science Journal
DNA Methylation Patterns of Interferon Gamma Gene Promoter and Serum Level in Pulmonary Tuberculosis: Their Role in Prognosis
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Tuberculosis (TB) still remains an important medical problem due to high levels of morbidity and mortality worldwide. A series of innate immune mechanisms that create a cytokine network control the pathogenesis of tuberculosis and this response has the capacity to modify the host genomic DNA structure through epigenetic mechanisms such as DNA methylation which could constantly alter the local gene expression pattern that can modulate the metabolism of the tissues and the immune-response. Interferon-gamma (IFN-γ) is an important pro-inflammatory cytokine regulator of the innate immune response to TB. This study aims to determine DNA methylation patterns of INF-γ gene promoter and measure serum IFN- γ level in newly diagnosed TB patient

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Publication Date
Sat Jun 29 2024
Journal Name
Journal Of Humanities And Social Sciences Researches
Measuring and Analysis the Relationship between the Internal Public Debt and the Exchange Rate in the Iraqi Economy for The Period 2004 – 2022
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The scholastic view of public religion differed, and this difference was on two extremes. All economic schools agreed that public debt is a monetary liquidity that was unjustly deducted from the income and output cycle as a result of the imbalance in the economic balance and the departure from the conditions of balance between aggregate demand and aggregate supply. Debt is a waste of financial resources allocated to productive accumulation. Except for the Keynesian school, which considers public debt to be an addition to aggregate demand after the decline in the role of the private sector in investment as a result of pessimistic expectations that warn of signs of economic contraction. Public debt is linked to the ex

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Publication Date
Wed Mar 29 2017
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Evaluation of the Relation between Asthma, Obesity and Leptin Level in Iraqi Asthmatic Patients and the Main Risk Factors that are Associated with Leptin Level
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This study tries to clear the correlation and association between asthma, obesity and leptin levels. Also it will work to indicate the main risk factors which play role in the elevation of leptin level within asthmatic patients.  This is a case control study conducted on (38) asthmatic patients and (20) healthy control who were closely similar by age, gender and BMI. The main statistical tests used were student t test, linear regression test and correlation test. Significance was set at P < 0.05. Sampling method used for this study was convenience sampling method.  The main results of this study show a significant association and positive correlation between age (old age  â‰¥ 40 ye

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Publication Date
Thu Oct 01 2020
Journal Name
Biochemical And Cellular Archives
Study on the effect of methotraxate drug on Retinol-Binding Protein 4 (RBP4), nesfatin and some trace elements in Iraqi male patients with rheumatoid arthritis
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Methotrexate (MTX) is one of the most effective medications to treat rheumatoid arthritis (RA).Aserum of 60 Iraqi male patients suffering from RA as (G1) was newly diagnosis and the same patient in G1 after taking MTX as G2 and 40 Iraqi male healthy control as G3. Nesfatin-1 (Nf-1) is belong to the adipokine family withpleiotropic effect. Nf-1 has been found in different tissues, including stomach, pancreas, bone cells, cartilage and heart. Retinol binding protein (RBP4) was known as transpoter of retinol from its storage sites in the liver to the extrahepatic tissues. Moreover, RBP4 acts as adipokine and contributes in the pathophsyology of prototypic inflammatory disease, rheumatoid arthritis (RA). The results showed a significant increas

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Publication Date
Wed Nov 12 2025
Journal Name
Journal Of Baghdad College Of Dentistry
A Comparison between the Horizontal Condylar and Bennett Angles of Iraqi Full Mouth Rehabilitation Patients by Using Two Different Articulator Systems (An In-Vivo Study)
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Background: Errors of horizontal condylar inclinations and Bennett angles had largely affected the articulation of teeth and the pathways of cusps. The aim of this study was to estimate and compare between the horizontal condylar (protrusive) angles and Bennett angles of full mouth rehabilitation patients using two different articulator systems. Materials and Methods: Protrusive angles and Bennett angles of 50 adult males and females Iraqi TMD-free full mouth rehabilitation patients were estimated by using two different articulator systems. Arbitrary hinge axis location followed by protrusive angles and Bennett angles, estimation was done by a semiadjustable articulator system. A fully adjustable articulator system was utilized to locate th

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Publication Date
Tue Jun 03 2025
Journal Name
Sar Journal Of Pathology And Microbiology
The Relation between Tumor Infiltrating Lymphocyte and Classical Tumor Staging in Colorectal Carcinoma (Semi-Quantitative Study by Immun histochemistry in a Group of Iraqi Patients)
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Inflammatory response had a role in cancer progression, presence of noticeable inflammation within the tumor and its margin may play an important prognostic role in colorectal carcinoma.

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Publication Date
Sun Dec 01 2013
Journal Name
Journal Of Economics And Administrative Sciences
Assess the Reality of the Process of Applying the strategic Innovation In Business organizations : A prospective Study of comparative analysis in anumber of business organizations the Iraqi Industrial
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Abstract :

      The research aims to Estimate the Strength of Strategic Innovation application in terms of application strength , and on the overall level in number of Iraqi Industrial business organizations . After wards determine whether their is differerences among those organizations in application process for the dimensions , and for the overall process .

      The Research revealed number of conclusions including that the process of strategic innovation is applied in a good Level , and demonstrates the desier of the industrial companies Leaders to Launch beyond the familiar products , and to provide new products that

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Publication Date
Mon Mar 29 2021
Journal Name
Journal Of Engineering
Effluent quality assessment of sewage treatment plant using principal component analysis and cluster analysis
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Sewage water is a mixture of water and solids added to water for various uses, so it needs to be treated to meet local or global standards for environmentally friendly waste production. The present study aimed to analyze the new Maaymyrh sewage treatment plant's quality parameters statistically at Hilla city. The plant is designed to serve 500,000 populations, and it is operating on a biological treatment method (Activated Sludge Process) with an average wastewater inflow of 107,000m3/day. Wastewater data were collected daily by the Mayoralty of Hilla from November 2019 to June 2020 from the influent and effluent in the (STP) new in Maaymyrh for five water quality standards, such as (BOD5), (COD), (TSS), (TP)

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Publication Date
Thu Apr 18 2019
Journal Name
Al-kindy College Medical Journal
Immunohistochemical Targeting of p110β Isoform of phosphatidylinositol 3-kinase co-associated with Cyclin-Dependent Kinase 1 in a Group of Tissues from Iraqi Patients with Breast Cancer
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Background: While two-thirds of breast cancers express hormone receptors for either estrogen (ER) and/or progesterone (PR) , genetically altered PI3K pathway was found in more than 70% of ER-positive breast cancers.An aberrant activity of cyclin-dependent kinase 1 (CDK1) in a wide variety of human cancers has selectively constituted an attractive pharmacological targets in MYC-dependent human breast cancer cells.

Aim of the study:  Role of p110-beta as well as and CDK 1  in the pathogenesis of subset of breast cancers and contribution in their carcinogenesis.

Type of the study: is a retrospective study

Methods: This retr

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Publication Date
Thu Apr 03 2025
Journal Name
Journal Of Communicable Diseases
Biofilm Feast: Stringent Response-Induced Changes in MRSA and MSSA Isolates, Examining icaA/ icaD Gene Expression
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Introduction: The stringent response is a bacterial adaptation mechanism triggered by stress conditions, including nutrient limitation. This response helps bacteria survive under harsh conditions, such as those encountered during infection. A key feature of the stringent response is the synthesis of the alarmone (p)ppGpp, which influences various bacterial phenotypes. In several bacterial species, stringent response activation significantly affects biofilm formation and maintenance. Methods: Clinical specimens were collected from multiple hospitals in Baghdad, Iraq. Staphylococcus aureus was identified using conventional biochemical tests. The PCR technique was applied to detect mecA, icaA, and icaD genes, while the Vitek 2 compac

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