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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 Sep 14 2025
Journal Name
Journal Of Baghdad College Of Dentistry
The relation of salivary glucose with dental caries and Mutans Streptococci among type1 diabetic mellitus patients aged 18-22 years
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Background: Diabetic is a chronic systemic disorder of glucose metabolism. That could be diagnosed using fasting and/or random plasma glucose and Glycated Haemoglobin (HbA1c). Several biochemical and microbial alterations of saliva could affect dental caries occurrence and severity among diabetic patients. The aim of the present study was to assess the relation of salivary glucose with severity of dental caries and Mutans Streptococci, among uncontrolled and controlled diabetic groups in comparison with non-diabetic control group. Materials and Methods: The total sample composed of adults aged (18-22) years. Divided into 25 uncontrolled diabetic patients (HbA1c > 7), 25 controlled diabetic patients (HbA1c ≤ 7), in addition to 25 no

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Publication Date
Sat Aug 17 2024
Journal Name
International Academic Journal Of Applied Bio-medical Sciences
Review of Relationship of Acanthamoeba spp. With some Species of bacteria in lenses lesion from Iraqi patients
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The dangerous and potentially blinding condition known as Acanthamoeba keratitis is caused by free-living amoebae of the genus Acanthamoeba. The prevalence of AIDS patients and contact lens wearers has increased in recent years, making cannaeba infections more significant. It's interesting to note that, depending on the parasite, host, and environmental conditions, the pathways linked to Acanthamoeba pathogenesis are frequently extremely complex. Notwithstanding our progress in antibiotic therapy and supportive care, the prevalence of Acanthamoeba keratitis has not decreased

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Publication Date
Sat Jan 01 2022
Journal Name
Pakistan Journal Of Medical & Health Sciences
Roles of Il-36 in the Pathogenesis of Inflammatory Bowel Disease in a Sample of Iraqi Patients
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Publication Date
Thu Jun 30 2016
Journal Name
Al-kindy College Medical Journal
Evaluation of the Intrinsic Pathway of Coagulation in a Sample of Iraqi Patients with Acute Myocardial Infarction
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Background: Acute myocardial infarction (AMI) is one of the most common diagnoses in hospitalized patients. Increased plasma hemostatic markers were noted in acute myocardial infarction, indicating that the blood coagulation system is highly activated in those patients. Aims of the study: To study the level of intrinsic coagulation factors including (FVIII:C, FIX:C ,FXI:C ,FXII:C ) in patients with acute myocardial infarction. Type of the study: Cross –sectional study. Methods: Thirty patients (their age range is 48-68 years) were included in this study (9 female, 21 male) who were just admitted to the coronary care unit in AL-Yarmouk Teaching Hospital and diagnosed as having acute myocardial infarction patients, blood samples were tak

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Publication Date
Thu Dec 13 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
Effectiveness of An Instructional Program on Pulmonary Tuberculosis Patients Quality of Life Concerning General Health-Related among sample in Baghdad City
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Objective(s): This research aims at evaluating the quality of pulmonary tuberculosis patients life before and after applying the suggested instructional program, and to find out relationships among distribution of an overall assessment quality of life improvement and socio-demographic characteristics variables. Methodology: Self controlled design studying effectiveness of applying instructional program on quality of life for pulmonary tuberculosis patients among sample size (65) patients from primary health care centers/AL-Sadur City sector-the consultation clinic of chest and respiratory diseases at AL

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Publication Date
Wed Dec 14 2016
Journal Name
Journal Of Baghdad College Of Dentistry
Oral Health Status among Group of Patients with Juvenile Idiopathic Arthritis According to Duration of Illness and Age Group in Iraq
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Background: Juvenile idiopathic arthritis (JIA) is a chronic disease of childhood. Increased prevalence of periodontal disease and dental caries in juvenile idiopathic arthritis is due to difficulties in executing good oral hygiene. This study was conducted to assess oral health status in patients with Juvenile idiopathic arthritis according to age and duration of illness. Materials and methods: A research was conducted among Juvenile idiopathic arthritis patients attending Baghdad Teaching Hospital with different age and both gender, underwent a clinical evaluation of their dental and oral condition. Diagnosis of dental caries was done according to the criteria of WHO (1997). Dental plaque, gingival condition, calculus were assessed by PI/

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Publication Date
Fri Apr 01 2016
Journal Name
Pediatric Dental Journal
Retrospective analysis of 1286 oral and maxillofacial biopsied lesions of Iraqi children over a 30 years period
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Objectives To determine the prevalence of oral lesions by age and gender among the pediatric population in Iraq. Materials and methods A review of the archives of the oral pathology department of Baghdad University from, 1970 Materials and Methods: A review of the archives of the oral pathology department of Baghdad University from 1970 to 2013 for all biopsies from children aged 0–15 years old. Results A total of 1286 child specimens represented 11.98% of all biopsied lesions. The pyogenic granuloma was the most frequent lesion in children, and the periapical cyst was the most frequent lesion from an odontogenic origin. The incidence of malignant lesions was higher in the 0–3 age group than other groups. Conclusions The majority of les

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Publication Date
Thu Mar 11 2021
Journal Name
Annals Of Tropical Medicine & Public Health
Morphological and Molecular Study of Biofilm Formation by Enterobacter cloacae
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Publication Date
Mon Mar 08 2021
Journal Name
Baghdad Science Journal
state selection of ammonia molecular beam using tapered ring focuser
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I've made extensive studies on the distribution of the electric field stable heterogeneous within intensive that contain metal rings with slope diagonal positive to a site halfway to be in its maximum value, followed by decline negative and equally to the other end of the concentrated distributed by electric stable thanking sequentially and have focused empirical studies in the pastthe molecules that you focused Pantqaúha during passage

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Publication Date
Thu Mar 24 2022
Journal Name
Journal Of Experimental Botany
Molecular basis of differential adventitious rooting competence in poplar genotypes
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Recalcitrant adventitious root (AR) development is a major hurdle in propagating commercially important woody plants. Although significant progress has been made to identify genes involved in subsequent steps of AR development, the molecular basis of differences in apparent recalcitrance to form AR between easy-to-root and difficult-to-root genotypes remains unknown. To address this, we generated cambium tissue-specific transcriptomic data from stem cuttings of hybrid aspen, T89 (difficult-to-root) and hybrid poplar OP42 (easy-to-root), and used transgenic approaches to verify the role of several transcription factors in the control of adventitious rooting. Increased peroxidase activity was positively correlated with better rooting. We foun

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