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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
Sat Nov 08 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
Sun Jan 01 2023
Journal Name
8th Engineering And 2nd International Conference For College Of Engineering – University Of Baghdad: Coec8-2021 Proceedings
Sentiment analysis in arabic language using machine learning: Iraqi dialect case study
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Publication Date
Thu Nov 23 2023
Journal Name
Journal Of Al-farahidi's Arts
Linguistic Analysis of Translating The Iraqi novel "The Corpse Washer" from Arabic to English
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This research aims to conduct a linguistic analysis of the translation of the novel "The Corpse Washer" by the Iraqi author Sinan Antoon. The main objective is to explore the challenges and strategies involved in translating this literary work, particularly the difficulties in translating the Baghdadi dialect and the obstacles it poses for non-native speakers. Employing a descriptive research methodology, the study examines the linguistic aspects of the translation, specifically selected conversational texts in the novel. It identifies the difficulties faced by translators in preserving the essence of the original novel and presents instances where errors occurred in translating vocabulary, conversational expressions, proverbs, and idi

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Publication Date
Tue Jun 20 2023
Journal Name
Baghdad Science Journal
Determination of Molecular Weight and Viscosity of Irradiated Polystyrene
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The varied applications of polystyrene in various fields of life led to examining the cause of radiation influence on some rheological behavior of commercial Polystyrene (PS) solution in the chloroform (CHCl3) solvent. Polystyrene grains shape samples were irradiated using the radioactive element Cesium- 137 with (9 µci) activity for 10, 20, and 30 minutes. The viscosity of the polymer solution depends on the concentration and size (i.e. molecular weight) of the dissolved polymer. Experimental data showed that the radiation dose affected the value of viscosity (shear, relative, specific, and reduced). The viscosity value significantly reduced at 10 min radiation dose and when increasing the dose, the viscosity value increased

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Publication Date
Sat Sep 15 2018
Journal Name
Journal Of Baghdad College Of Dentistry
Prosthetic Status in Relation to Weight Status and Occupation among Parkinson's Disease Patients in Baghdad-Iraq
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Background: The symptoms of Parkinson's disease (PD) can lead to problems in movement and coordination that lead to difficulty in maintaining well oral cleaning which can then negatively affect dental status of those Patients. The aim of present study: To evaluate prosthetic status in relation to weight status and occupation by age and gender among Parkinson's disease Patients in Baghdad-Iraq. Methods: The sample consisted of 104 patients with Parkinson disease attended to the Neurosciences Hospital in Baghdad city / Iraq, aged 60-79 years Prosthetic Status was recorded according to WHO(1997). Weight status was recorded according to Trowbridge 1988 and occupation was recorded according to Erikson and Goldthorpe (1992) and Ganzeboom et al (

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Publication Date
Fri Jul 24 2020
Journal Name
Al-kindy College Medical Journal
Irritable Bowel Syndrome: The Most Common Presentation, Severity Ranking and Therapeutic Regimens among Patients Attending Outpatient
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Background: Irritable bowel syndrome (IBS) is one of the most common GI disorders in people under 50 years of age.
Objective: To Formulate an overview about demographics of IBS and patterns of presentation, to determine IBS patients severity ranking, and to recognize the main regimens with their patient satisfaction.
Methods: This is a cross sectional clinical study that is conducted in Outpatient Consultant Internal Medicine Clinic in Al-Kindy Teaching Hospital from 11/12/2017 to 24/12/2017. The patients suffering from IBS are diagnosed by a consultant according to the symptom-based Rome criteria for functional GI disorders, by implementing a questionnaire collecting thorough information. 77 cases of IBS patients were collected (2

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Publication Date
Sat Nov 30 2024
Journal Name
The Journal Of Infection In Developing Countries
Hematological profile among cutaneous leishmaniasis patients before and after treatment with sodium stibogluconate in Diyala, Iraq
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Introduction: Cutaneous leishmaniasis (CL) is a common protozoan disease in Iraq characterized by localized ulcers, primarily on exposed skin. This study aimed to investigate the hematological parameters of infected patients using a complete blood count (CBC) in the endemic area of Diyala Governorate, northeast of Baghdad. This has been studied in newly diagnosed, untreated individuals and patients receiving sodium antimony gluconate. Methodology: Hematological screening was performed on blood samples from 161 patients with microscopically diagnosed cutaneous leishmaniasis before and after treatment. Anti-Leishmania IgG was also assessed by ELISA in seropositive and seronegative subjects. Results: The newly diagnosed, untreated pati

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Publication Date
Wed Sep 15 2021
Journal Name
Journal Of Baghdad College Of Dentistry
Salivary Cortisol as a Stress Biomarker and Total Viable Count of Salivary Bacterial Microbiome among COVID-19 Patients
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Background: The COVID-19 virus outbreak had a massive effect on many parts of people's lives, as they were advised to quarantine and lockdown to prevent the virus from spreading, which had a big impact on people's mental health, anxiety, and stress. Many internal and external factors lead to stress. This negatively influences the body's homeostasis. As a result, stress may affect the body's capacity to use energy to defend against pathogens. Many recent investigations have found substantial links between human mental stress and the production of hormones, prohormones, and/or immunological chemicals. some of these researches have verified the link between stress and salivary cortisol levels. The aim of this study is to measure salivary corti

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Publication Date
Mon Dec 25 2017
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Assessing Quality of Life Among Patients with Diabetes Mellitus, Hypertension or Both Diseases in Al-Najaf Province /Iraq
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this study deals with effect of diabetes and hypertension on quality of life

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