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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
Mon May 04 2020
Journal Name
Biochemical And Cellular Archives
MOLECULAR AND HEMATOLOGICAL STUDY OF TOXOPLASMA GONDII IN HORSES
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Publication Date
Wed Feb 08 2023
Journal Name
Iraqi Journal Of Science
Molecular Detection of Klebsiella pneumoniae serotype K2 Isolated Clinically
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One hundred specimens (urine and sputum) were collected in sterilized containers from patients attending two hospitals in Baghdad province including: Educational Al-Karama Hospital and Educational Al-Yarmouk Hospital, in which, thirty-eight K. pneumoniae isolate were obtained out of one hundred specimens, all of which are of urine origin. The results obtained in this study showed that Klebsiella pneumoniae isolates were highly resistant to Augmentine (94.7%), also Klebsiella isolates were resistant to Ceftriaxone (86.8%), Cefotaxime (81.5%), and Ceftazidime (65.7%). Very low level of resistance was found toward Imipenem and Meropenem (18.4% and 5.2%) respectively. Only four isolates (10.52 %) were positive for wzy gene; K19, K20, K21, an

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Publication Date
Fri Jun 17 2022
Journal Name
International Journal Of Health Sciences
Molecular detection of biofilm coding genes in Staphylococcus aureus
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In accordance with epidemic COVID-19, the elevated infection rates, disinfectant overuse and antibiotic misuse what led to immune suppression in most of the population in addition to genotypic and phenotypic alterations in the microorganisms, so a great need to reevaluate the genetic determinants that responsible for bacterial community (biofilm) has been raised. A total of 250 clinical specimens were obtained from patients in Baghdad hospitals and streaked on Mannitol salt agar medium. The results revealed that 156 isolates appeared as round yellow colonies, indicating that they were mostly identified as Staphylococcus aureus from 250 specimens. The antibiotic resistance pattern of the isolates for methicillin 37.17% (n=58), Amoxic

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Publication Date
Fri Jan 01 2021
Journal Name
International Journal Of Agricultural And Statistical Sciences
DYNAMIC MODELING OF TIME-VARYING ESTIMATION FOR DISCRETE SURVIVAL ANALYSIS FOR DIALYSIS PATIENTS IN BASRAH, IRAQ
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Survival analysis is widely applied to data that described by the length of time until the occurrence of an event under interest such as death or other important events. The purpose of this paper is to use the dynamic methodology which provides a flexible method, especially in the analysis of discrete survival time, to estimate the effect of covariate variables through time in the survival analysis on dialysis patients with kidney failure until death occurs. Where the estimations process is completely based on the Bayes approach by using two estimation methods: the maximum A Posterior (MAP) involved with Iteratively Weighted Kalman Filter Smoothing (IWKFS) and in combination with the Expectation Maximization (EM) algorithm. While the other

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Publication Date
Sat Feb 01 2025
Journal Name
Journal Of Baghdad College Of Dentistry
Oral manifestations, biochemical, and IL-6 analysis of saliva in major depressive disorder patients under treatment
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Background: Major depressive disorder (MDD) is mental disorder characterized by an all-encompassing low mood accompanied by low self-esteem, and by loss of interest or pleasure in normally enjoyable activities. The aims of the study: were to determine the prevalence of oral manifestation among patients with major depressive disorder receiving antidepressant drugs, and detect alkaline phosphatase (ALP), Total Salivary proteins (TSP), and Interleukin-6 (IL-6) in relation to MDD patients under treatment and to compare with healthy controls. Materials and method: (50) MDD patients; between the ages of 20 years and 60 years.The depression patients are divided into (25) patients under treatment with fluoxetine (Prozac), and (25) patients under tr

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Publication Date
Fri Sep 27 2019
Journal Name
Journal Of Baghdad College Of Dentistry
Clinical Assessment and Cytomorphometric Analysis of Buccal Mucosal Cells in Behçet’s Disease Patients
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Background: Behçet’s disease (BD) is a disorder of systemic inflammatory condition. Its important features are represented by recurrent oral, genital ulcerations and eye lesions. Aims. The purpose of the current study was to evaluate and compare cytological changes using morphometric analysis of the exfoliated buccal mucosal cells in Behçet’s disease patients and healthy controls, and to evaluate the clinical characteristics of Behçet’s disease. Methods. Twenty five Behçet’s disease patients have been compared to 25 healthy volunteers as a control group. Papanicolaou stain was used for staining the smears taken from buccal epithelial cells to be analyzed cytomorphometrically. The image analysis sof

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Publication Date
Fri Jun 23 2023
Journal Name
Journal Of Communicable Diseases
Downregulation of the Gene Expression of Efflux Pump Gene (acrA) and its Regulator (ramA) in Klebsiella pneumoniae by Quaternary Ammonium Compounds
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Introduction: Biocides are commonly used for disinfection in a variety of contexts. They are generally used to avoid infection by controlling biofilm on medical equipment. However, the literature lacks information on the effect of biocide on efflux pump gene expression. Objective: To determine the influence of biocide on biofilm development and efflux pump acrA and ramA gene expression. Methodology: The microtiter plate method was used to identify biofilm development in 80 isolates of K. pneumoniae. The minimal inhibitory concentrations (MIC) of three biocides (quaternary ammonium compound (QAC), chlorohexidine digluconate, and chloroxylenol) were estimated. The effect of QAC on the intensity and viability of biofilms was investigated as we

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Publication Date
Sat Nov 10 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
Prevalence of Anxiety and Depression Among the Iraqi Repatriated Prisoners of the Iran-Iraq War, 1980-1988
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Objective: To find out the prevalence of anxiety and depression among Iraqi repatriated prisoners of Iran-Iraq war
(IRPOWs), and the relationship with some variables.
Methodology: A descriptive study was carried out from Oct. 18th, 2009 through Jan. 10th, 2010. A Snowball
sampling as a non-probability sampling technique was used to recruit 92 repatriates who had visited Ministry of
Human Rights. An instrument was constructed for this purpose. The constructed instrument consisted of six
demographic characteristics, and fourteen items to measure the level of anxiety and depression in prisoners of
war (POWs). Data were collected with using the constructed instrument and the process of the interview as means
for data col

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Publication Date
Wed May 25 2022
Journal Name
Iraqi Journal Of Science
Allergic Rhinitis and Asthma: A Profile of Beta-defensins in Serum of Iraqi Patients
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Human beta-defenses (hBDs) are antimicrobial peptides involved in innate immune protection, and their association with the risk of respiratory allergy has been proposed. Therefore, this study sought to evaluate this association in allergic rhinitis (AR) and asthma (AS) of Iraqi patients. A case-control study was conducted to investigate serum levels of hBD1, hBD2, hBD3, and hBD4 in 52 AR and 60 AS patients and 61 healthy controls (HC). The hBDs were determined using enzyme-linked immunosorbent assay kits. Results revealed that median levels of hBD1, hBD2, and hBD3 were significantly elevated in the serum of AR and AS patients compared with HC (p < 0.01). Levels of hBD4 were also elevated in AR and AS patients but the differen

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Publication Date
Sun Jun 07 2015
Journal Name
Baghdad Science Journal
Determanation of Several Biochemical Parameters in Sera of Iraqi Patients with type 2 Diabetes
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Diabetes mellitus, or simply diabetes, is a group of metabolic diseases in which a person has high blood sugar, either because the pancreas does not produce enough insulin, or because cells do not respond to the insulin that is produced. This high blood sugar produces the classical symptoms of polyuria (frequent urination), polydipsia (increased thirst), and polyphagia (increased hunger). The aim of the study is to measure several biochemical parameters in T2DM patients and the effect of these parameters in development the disease. Laboratory investigations including Ceruloplasmin , fasting blood glucose (FBG) , malondialdehyde (MDA), serum protein, uric acid, and protein electrophoresis have been measured in patients with type

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