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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 Nov 09 2025
Journal Name
Journal Of Baghdad College Of Dentistry
Nutritional status in relation to oral health status among patients attending dental hospital
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Background: Good Nutrition is essential for oral and dental health in children. Good eating habits and food preferences are established early in childhood. Oral health problems can effect dietary quality and nutrient intake in another side increase the risk of several systemic diseases., The aim of the present study was to investigate the relation or the effect the of nutritional status in children at age of 5 to16 on the oral health status and dental caries . Materials and Methods: the total sample composed of 153 patients attending the Pedodontic and Preventive Department/College of Dentistry/University of Baghdad, the assessment of nutritional status was performed by using Body Mass Index specific for age and gender according to Chronic

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Publication Date
Thu Jan 30 2014
Journal Name
Al-kindy College Medical Journal
Hydatid Cyst Disease among Patients hospitalized at Baghdad teaching hospital: clinico-epidemiological study
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Background. Echinococcosis/ hydatitdosis is a zoonotic parasitic disease caused by the infestation of the larval form of the tapeworm of the genus Echinococcus .The Liver, lungs, and kidneys are the common areas of infestation.Objectives: To describe hydatid disease in hospitalized patients from a clinico-epidemiological perspectives.Methods:: A retrospective study was conducted over a period of 6 months extending from 15th of November 2011 to the 15th of May 2012 by reviewing records of 125 patients who were hospitalized at Baghdad Teaching Hospital during 2011and received medical and surgical treatment for hydatid cyst disease. The information covered the socio-demographic and clinical characteristics of the patientsResults:.The presen

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Publication Date
Fri Dec 30 2011
Journal Name
Al-kindy College Medical Journal
Sensorineural Deafness Among Patients with Chronic Renal Failure in Al-kindi Teaching Hospital
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Background: Patients with chronic kidney
disease have different grades of sensorineural
deafness .
Objective: To study the incidence of
sensorineural hearing loss and possible contributing
factors in patients with chronic kidney disease.
Methods: A total of 100 patients with chronic
kidney disease were studied. All of them were
males. 92 of them were on regular haemodialysis
programme. Only 8 patients were on conservative
management the age range of the study patients was
18-40 year patients were divided into three groups
according to age. All patients were assessed
clinically and were evaluated by audiometry , and
analysis was made on bone conduction threshold
.The mean follow up period was 2

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Publication Date
Tue Jan 01 2019
Journal Name
Indian Journal Of Public Health Research &amp; Development
Maximum Bite Force among Iraqi Primary School Children in Mixed dentition
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Publication Date
Sat Nov 05 2022
Journal Name
Resmilitaris
Job Burnout Among Social Workers in Iraqi society: A Social Study
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There are a number of obstacles in the field of work of social workers that prevent them from performing their full role. Their tasks may sometimes be easy and manageable and at other times they may be difficult and complex, however professional roles are mostly the latter, contribute to the feeling of the inability to provide the work required at the level expected by others. In such cases, the relationship binding specialists to their work is affected negatively and this has devastating effects on the professional process as a whole, including their professional practice. This feeling of helplessness and depletion of energy and effort leads to a state of fatigue and emotional exhaustion that can be defined as job burnout, our study aims t

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Publication Date
Thu Apr 01 2021
Journal Name
Journal Of Molecular Structure
Mixed-ligand complexes of ampicillin derived Schiff base ligand and Nicotinamide: Synthesis, physico-chemical studies, DFT calculation, antibacterial study and molecular docking analysis
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A novel series of mixed-ligand complexes of the type, [ML1(L2)3]Clx [M= Cr(III), Fe(III), Co(II),Ni(II), Cu(II), Cd(II) and Hg(II), n = 2, 3], was synthesized using Schiff base (HL1) as main ligand, nicotinamide (L2) as secondary ligand, and the corresponding metal ions in 1:3:1 molar ratio. The main ligand, HL1 was prepared by the interaction of ampicillin drug and 4-chlorobenzophenone. The synthesized mixed ligand complexes were characterized by elemental analysis, UV-Vis, FT-IR,1H-NMR,13C-NMR and TG/DTG studies. In the mixed-ligand complexes, the Schiff base ligand, HL1 showed coordination to the central metal ion in tridentate manner via azomethine nitrogen, β-lactam ring oxygen and deprotonated carboxylic oxygen atoms, whereas the sec

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Publication Date
Thu Jan 23 2020
Journal Name
Iraqi Journal Of Laser
Fractional CO2 Laser Treatment of Mild Periorbital Wrinkles in Iraqi Patients
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Background and Objective: Public demand for procedures to rejuvenate photodamaged facial skin have stimulated the use of fractional CO2 laser as a precise and predictable treatment modality. The purpose of this study was to assess the effect of fractional CO2 laser system for reducing periorbital rhytids.

Materials and Methods: twenty seven subjects with mild periocular wrinkles, and photoaged skin of the face were prospectively treated two to three times (according to clinical response) in the periorbital area with a fractional CO2 laser device equipped with a scanning hand piece. Improvements in eyelid wrinkles was evaluated clinically and photographically. Subjects also scored satisfaction and

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Publication Date
Wed Dec 01 2021
Journal Name
Baghdad Science Journal
Study of Certain Biomarkers in Iraqi Female Patients with Breast Cancer
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The prospective study has been designed to determine some biomarkers in Iraqi female patients with
breast cancer. The current study contained 30 patients whose tissue samples have been collected from
hospitals in Medical City in Baghdad after consent patients themselves and used immunohistochemical
technique to determine these markers. The results showed a significant correlation between ER and PR tissue
markers (Sig = 0.000) and a significant correlation between cyclin E phenotype and cyclin E intensity (Sig =
0.001).

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Publication Date
Wed Mar 15 2023
Journal Name
Bionatura
Evaluation of serum Interleukin 36 in Iraqi patients with Rheumatoid arthritis
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Rheumatoid arthritis is a worldwide inflammatory chronic autoimmune disease with varying severity. Due to no definitive cure for this disease, current therapies aim to decrease the pain and slow further damage. The interleukin (IL)‐36 cytokine was little known for its role in rheumatoid arthritis; this research aimed to evaluate the serum IL36 levels in RA patients compared to healthy controls. This study included 80 patients with rheumatoid arthritis registered at the Rheumatology Clinic in Baghdad teaching hospital. The patients were divided into three groups based on the treatments received. Group 1 included patients treated with biological therapy (etanercept, adalimumab), Group2 patients with non-biological treatment (methotr

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Publication Date
Thu Jul 05 2018
Journal Name
International Journal Of Medical Research & Health Sciences
Methicillin-Resistant Staphylococcus epidermidis Isolated from Breast Tumors of Iraqi Patients
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Background: Globally, breast cancer is the second leading cause of death among women in Iraq. Several genetic and environmental factors are associated..

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