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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
Thu Mar 09 2017
Journal Name
Ibn Al-haitham Journal For Pure And Applied Sciences
IFN-γ T/A +874 Gene Polymorphism in Type 1 Diabetes Mellitus of Iraqi Children
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This study included 50 blood samples collected from children with mean age 8-12 years. Thirty five blood samples were collected from children with Type 1 Diabetes Mellitus (T1D) with mean age 9.4±0.34 years, and 15 blood samples collected from healthy children as a control sample with mean age 10.9±0.38 years. Immunogenetic study was done on collected blood samples. Concentrations of IFN-γ were estimated from T1D patient and control samples by using Elisa instrument. The concentration of this interferon was 1.575 pg/ml in T1D patient sample in comparison with 0.921 pg/ml in control sample. Significant differences of this interferon concentration were found between T1D patient and control samples when Mann-Whitney U test was used

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Publication Date
Tue Oct 01 2024
Journal Name
Journal Of The Faculty Of Medicine Baghdad
Comparison of ََQuality of Life and Treatment Satisfaction among Sample of Iraqi Patients Using Anticoagulant Therapy (Warfarin or Non-Vitamin K Antagonist Oral Anticoagulants)
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Background: Oral anticoagulation medication, warfarin and non-vitamin k antagonist oral anticoagulants  (NOAC) may require long term use which may affect patients’ satisfaction with their treatment and their quality of life (QOL). Objective: To compare the quality of life and treatment satisfaction among groups of patients using different anticoagulant therapies (warfarin and NOAC). Patients and methods: A cross-sectional study was performed at Ibn Al-Bitar Hospital for cardiac surgery in Baghdad in the period between December 2022 to May 2023. The study population included a convenient sample of patients receiving either warfarin or non-vitamin k antagonist oral anticoagulants treatment. The Arabic version of the short form 12

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Publication Date
Thu Nov 21 2019
Journal Name
Al-kindy College Medical Journal
Drug Resistant Epilepsy Among Patients Attended The Neurosciences Hospital
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Background: Drug resistant epilepsy is defined as failure of adequate trials of two tolerated, appropriately chosen and used antiepileptic drug schedules to achieve sustained seizure freedom. Up to 30% of patients referred to clinics with a diagnosis of pharmaco-resistant epilepsy may have been misdiagnosed, and many can be helped by optimizing their treatment.Pseudoresistance, in which seizures persist because the underlying disorder has not been adequately or appropriately treated, must be ruled out or corrected before drug treatment can be considered to have failed.

Objectives: The objectives of this study were to determine the causes of drug failure in patients with epilepsy and to differenti

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Publication Date
Sat Oct 01 2022
Journal Name
Iraqi Postgraduate Medical Journal
Helicobacter Pylori Infection among Dyspeptic Patients Referred for Endoscopy
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Functional dyspepsia is one of the most common gastrointestinal symptoms and attributed to various causes including Helicobacter pylori infection. AIM OF THE STUDY: To correlate Helicobacter pylori infection to functional dyspepsia and to identify the possible risk factors for this infection. PATIENTS AND METHODS: Fifty patients who were referred to the endoscopy unit for dyspepsia symptoms, secondary gastric causes of dyspepsia were excluded during endoscopy, gastric biopsies were taken for histopathological study and for bedside urease test for detection of Helicobacter pylori infection. RESULTS: 62% of non-ulcer dyspeptic patients were infected with Helicobacter pylori, 74.2% of the patients were above 30 years old, female gender patient

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Publication Date
Wed Feb 08 2023
Journal Name
Iraqi Journal Of Science
Uropathogenic Infections Among Patients with Diabetes in Baghdad City
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One hundred thirty four urine samples were collected from diabetic patients during the period from March –November -2014. From these samples there were 62.7% positive samples, women represented 45.3% and men represented 54.7% , some of them were a symptomatic as women represented 60.5% and men represented 58.7%  and some were with clinical symptoms with or without a history of UTI. Hypertension diabetic women represented 45% and men represented 26% .Men suffering from prostate enlargement were represented 35% from the total diabetics .The E.coli isolates were  represented 28.6% from the total cases ,Klebsiella spp  isolates represented 20%, S. aureus   isolates represented 16.7%,P

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Publication Date
Sun Jan 01 2012
Journal Name
The Journal Of Arts Faculty Of Baghdad University
Genre Analysis of Iraqi EFL Graduates’ Dissertation Acknowledgements
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Publication Date
Thu Mar 30 2023
Journal Name
Iraqi Journal Of Science
The Study of Genetic Variations of GCG Gene and it's Relationship to Obese in Iraqi Population
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The present study conducted on 120 obese males and 50 healthy males, their age ranged from 20-50 years. The patients were divided into 3 groups based on Body Mass Index (BMI) and Central Obesity (CO), it has noticed that there is a significant relation between both indexes. The DNA was isolated from the blood of patients and applies for PCR by using designed primers for exons 1 and 3 of GCG gene. The results showed that there are mutants in exon 1 at locus 9573 (G/C) for 30 patients and locus 9864 (C/-) for 10 patients with X2 = 12.30, also it has fund mutants in exon 3 at locus 5397 (A/G) for 28 patients and locus 5434 (G/A) for 8 patients with X2 = 11.11. These mutants have a high significant effect P≤ 0.001 to cause pathogenicity.

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Publication Date
Thu Mar 15 2018
Journal Name
Journal Of Baghdad College Of Dentistry
Bruxism and Sleep Quality Among Iraqi Dental Students
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Background: Undergraduate dental students are more susceptible to situations of stress that affected quality of sleep, such profiles of stress may result in sleep bruxism and/or awake bruxism, parafunctions that can affect oral and general health. The aim of the study was to evaluate the association of sleep bruxism, awake bruxism and sleep quality among dental students. Materials and methods: A cross-sectional study was performed including 260 Iraqi dental students from university of Baghdad aged from 20to25years old. Students enrolled in the third and fifth class participated in the study. The Pittsburgh Sleep Questionnaire Index (PSQI) was used for data collection. The PSQI was distributed during lecture classes. Sleep bruxism and awake

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Publication Date
Sat Jul 31 2021
Journal Name
Iraqi Journal Of Science
Association of the Intronic Polymorphism rs3773364 A>G in Synapsin-2 Gene with Epilepsy Patients in Iraq
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     Epilepsy is a central nervous system disease which is characterized by a recurrent seizure that distinguishes it from other similar diseases. Epilepsy may occur due to defects in genes that encode some receptors in the brain. For this reason, this study aimed to understand the association between Synapsin-2 (SYN2) gene and susceptibility to epilepsy. Blood samples were collected from 40 volunteers, including 30 patients suffering epilepsy with an age range of 26-49 years old and 10 healthy individuals with an age range of 25-53 years old. The study sample involved 16 males and 14 females with epilepsy along with 6 males and 4 females healthy subjects.  DNA was isolated from the volunteers for PCR-RF

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Publication Date
Thu Dec 13 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
The Effect of Toxoplasma Gondii on DNA SequenceAlteration among BreastCancer Patients
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Objective: The study aims to determine the effect of Toxoplasma gondii infection on the
genetic sequence of breast cancer patients in the Medical City Hospital – Tumor Unit /
Iraq-Baghdad.
Methodology: A study was carried out in the City of Medicine / Oncology Unit / Baghdad,
during the period 1st June 2016 to 15
th March 2017. Forty samples of tissue and serum
were collected from patients who complaining from Breast cancer and infected with
Toxoplasmosis. Forty sera samples were taken from patients complaining from parasitic
infection only; without breast cancer as control group. Data is analyzed by using of
descriptive and inferential data analysis methods.
Results: The results show that there is an effe

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