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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 Feb 14 2021
Journal Name
Biochemical And Cellular Archives
A RETROSPECTIVE STUDY TO EVALUATE SOME POTENTIAL RISK INDICATORS ON OSSEOINTEGRATED DENTAL IMPLANTS IN A SAMPLE OF IRAQI PATIENTS
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Determining risk indicators for dental implants is an essential strategy for preventing peri-implant diseases and effective diagnosis of dental implant success. To investigate the impact of certain potential factors on the osseointegrated dental implant. Eighty-four individuals were included in our study, 50 cases as a patient’s group and 34 participants as a control group. All cases were diagnosed based on certain criteria, 30 (60%) of patients had peri-implantitis, 20 (40%) with severe periimplantitis, 36(72%) were generalized, and 15 (30%) as localized peri-implantitis cases. The study has indicated that 44.7% of dental implants were in the anterior maxilla, followed by (27.3%) posterior maxilla, (17.4%) posterior mandible, and (10.4%)

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Publication Date
Wed Jan 01 2020
Journal Name
Annals Of Tropical Medicine And Public Health
Determination of hepcidin (25) level in hemodialysis Iraqi male patients and its relation with erythropoietin and some biochemical parameters
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Background: Anemia is a common finding in patients with renal failure disease and it is, primarily, due to reduced production of iron and erythropoietin. Therefore, the aim of current study was to evaluate the relationship between serum level of hepcidin 25, on the one hand, and levels of serum iron, total iron-binding capacity, serum erythropoietin and transferrin saturation% in Iraqi male patients undrgoning haemodialysis.. Methods: Serum from75 males in the end stage of hemodialysis, as group one, and 25 Iraqi healthy malecontrols, as group two, were recruited in this study. Results: Data from current study showed significant increase in hepcidin 25 and significant decrease in serum iron, total iron-binding capacity, transferrin saturati

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Publication Date
Fri Mar 12 2021
Journal Name
Medico Legal Update
Human Cytomegalovirus Infection as a Risk Factor for Type 2 Diabetes Mellitus Development in a Sample of Iraqi Patients
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Type 2 diabetes mellitus which abbreviate as T2DM is a complex endocrine and metabolic disorder arisingfrom genetic and environmental factors interaction which in turn induce various degrees of insulin functionalalteration on peripheral tissues. Globally, T2DM has develop into a public health problem. Therefore, Thestudy included (75) patients(37 female and 38 males) suffering from T2DM who visit al-kadhimiya teachinghospital with age range 20-80 years and (70) as healthy controls with age range 20-70 years. All studiedgroups were evaluated CMV IgG by ELISA,B. urea, S. Creatinine, cholesterol and triglyceride the resultsshowed that B.urea, S.creatinine and serum cholesterol showed a non-significant differences between studiedgroup,

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Publication Date
Sun May 01 2022
Journal Name
Songklanakarin J. Sci. Technol.
Molecular identification of three novel species of Ganoderma from different habitats in Mosul, Iraq
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Reishi Mushroom, Ganoderma, is considered one of important wood-decaying medicinal mushrooms. This study aimed to identify three samples of this genus in Mosul city in February and April 2019. Three species of Ganoderma were collected from three various trees including Eucalyptus, Morus, and Olea (olive) in Mosul City, Northern Iraq. Their identifications and their DNA sequences were genetically identified by using PCR techniques according to detect nuclear ribosomal internal transcribed spacer (ITS) regions. Results exhibited the finding of Ganoderma resinaceum, Ganoderma applanatum, and Ganoderma sp. This study is first attempt to identify Reishi Mushroom by molecular methods in Iraq. Thus, the current study is considered new good d

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Publication Date
Fri Sep 24 2021
Journal Name
Indonesian Journal Of Chemistry
Molecular Imprinted of Nylon 6 for Selective Separation of Procaine by Solid-Phase Extraction
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The study is based on the selective binding ability of the drug compound procaine (PRO) on a surface imprinted with nylon 6 (N6) polymer. Physical characterization of the polymer template was performed by X-ray diffraction and DSC thermal analysis. The imprinted polymer showed a high adsorption capacity to trap procaine (237 µg/g) and excellent recognition ability with an imprinted factor equal to 3.2. The method was applied to an extraction column simulating a solid-phase extraction to separate the drug compound in the presence of tinoxicam and nucleosimide separately and in a mixture of them with a recovery rate more than the presence of tinoxicam and nucleosimide separately and in a mixture of them with a recovery rate of more t

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Publication Date
Sun Aug 21 2022
Journal Name
International Journal Of Health Sciences
Molecular detection of fimH&amp; mrkDgenes of strong biofilm producers &amp; MDR Klebsiella pneumoniae
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Klebsiella pneumoniae is an adaptable pathogen that forms biofilms on a variety of surfaces. This study's objective was to identify the presence of fimbrial genes (types 1 and 3) in K. pneumoniae strains isolated from various clinical sources based on their antibiotic resistance and ability to form biofilms. According to identification utilizing the vitek 2 technology and confirmation by molecular identification targeting the 16S rRNA gene with a particular primer, forty isolates were identified from clinical specimens. The vitek 2 compact system was utilized to evaluate the antibiotic susceptibility of all the isolates. The findings revealed a range of resistance percentages, including 52.5% for Penicillin, 40.5% for Trimethoprim/S

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Publication Date
Sat Jun 30 2018
Journal Name
Iraqi Journal Of Medical Sciences
CLINICAL UTILITY OF URINARY ANTIGEN TEST AND MOLECULAR METHOD FOR DETECTION OF LEGIONELLA PNEUMOPHILA
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Background: Legionella pneumophila (L. pneumophila) is gram-negative bacterium, which causes Legionnaires’ disease as well as Pontiac fever. Objective: To determine the frequency of Legionella pneumophila in pneumonic patients, to determine the clinical utility of diagnosing Legionella pneumonia by urinary antigen testing (LPUAT) in terms of sensitivity and specificity, to compares the results obtained from patients by urinary antigen test with q Real Time PCR (RT PCR) using serum samples and to determine the frequency of serogroup 1 and other serogroups of L. pneumophila. Methods: A total of 100 pneumonic patients (community acquired pneumonia) were enrolled in this study during a period between October 2016 to April 2017; 92 sam

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Publication Date
Mon Sep 09 2024
Journal Name
Al-rafidain Journal Of Medical Sciences ( Issn 2789-3219 )
Association of hsCRP and Serum Kalirin Levels with the Development and Severity of Premature Coronary Artery Disease in Iraqi Patients
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Background: Coronary artery disease (CAD) is a major contributor to morbidity and mortality worldwide. Early-onset CAD, also known as PCAD, is a severe form of CAD associated with high mortality and a poor prognosis. Early diagnosis is crucial to reducing complications. While hsCRP is an established biomarker for CAD, kalirin is a potential novel biomarker due to its role in promoting smooth muscle proliferation and endothelial dysfunction. Objective: To evaluate the relationship between serum kalirin and hsCRP levels with the presence and severity of PCAD and to compare the diagnostic value of both biomarkers. Method: The study recruited 92 participants into two groups: the PCAD group (46) included patients with confirmed CAD by an

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Publication Date
Sun Mar 01 2015
Journal Name
Baghdad Science Journal
Evaluation of Electrolytes Disturbances in Iraqi Chronic Myeloid Leukemia Patients treated with Nilotinib with Monitoring of Response by FISH Study
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Chronic myeloid leukemia (CML) is a myeloproliferative disorder characterized by the presence Philadelphia chromosome (Ph) which was created by a reciprocal translocation between chromosomes 9 and 22 (t [9;22] [q34;q11]. The approval of the 2nd generation TKI ( Nilotinib) takes the treatment of CML patients into new erea with more efficiency and mild to moderate adverse effects. This study was aimed at evaluation of molecular cytogenetic response by (FISH) for Nilotinib in Iraqi patients with assessment for electrolytes disturbances of Nilotinb by measuring a panel of electrolyte (Na+, K+, Ca++, PO4--- and Mg++) , where thirty Iraqi patients with CML who have resistance or no response to Imatinib treatment, attending to Baghdad Teaching Ho

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Publication Date
Fri Aug 23 2024
Journal Name
Cureus
The Effect of Pan-Retinal Photocoagulation on Central Macular Thickness in a Sample of Iraqi Patients With Proliferative Diabetic Retinopathy
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