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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
Fri Nov 01 2013
Journal Name
Iraqi Postgraduate Medical Journal
Post Hair Epilation Acneiform Eruption Among Females
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KE Sharquie, HR Al-Hamami, IK Sharquie, AA Noaimi, HM Al-Karawy, Iraqi Postgraduate Medical Journal, 2013

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Publication Date
Wed Nov 12 2025
Journal Name
Journal Of Baghdad College Of Dentistry
The effect of autologous bone marrow-derived stem cells with estimation of molecular events on tooth socket healing in diabetic rabbits (Immunohistochemical study)
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Background: Healing of a tooth extraction socket is a complex process involving tissue repair and regeneration. It involves chemotaxis of appropriate cells into the wound, Transformation of undifferentiated mesenchymal cells to osteoprogenitor cells, proliferation and differentiation of committed bone forming cells, extracellular matrix synthesis, mineralization of osteoid, maturation and remodeling of bone. These cellular events are precisely controlled and regulated by specific signaling molecules. Some of these like transforming growth factor beta (TGF-?), vascular endothelial growth factor (VEGF), bone morphogenetic proteins (BMP) and insulin like growth factors (IGF) are well conserved proteins involved in the initial response to injur

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Publication Date
Mon Aug 01 2022
Journal Name
Inorganic Chemistry Communications
Study to molecular insight into the role of aluminum nitride nanotubes on to deliver of 5-Fluorouracil (5FU) drug in smart drug delivery
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The adsorption process of 5-Fluorouracil (5FU) drugs on Aluminum nitride nanotubes surface (AlNNTs) have been evaluated through density functional theory (DFT). The DFT results show that the interaction of AlNNTs with the F atoms of 5FU drugs is strong due to the fact that the amount of adsorption energy was about − 29.65 kcal.mol−1. Conversely, the interaction of the 5FU through O atoms with the AlNNTs was weaker due to the lower value of adsorption energy. Also, based on the values of Gibbs free energy, the 5FU adsorption on the surfaces of AlNNTs was spontaneous. In addition, based on natural bond orbital (NBO) analysis, the direction of charge transfer was from fluorine’s σ orbitals of the drug to nitrogen’s and aluminum’s n*

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Publication Date
Thu Apr 25 2019
Journal Name
Iraqi Journal Of Market Research And Consumer Protection
FLOW INJECTION ANALYSIS AND SPECTROPHOTOMETRIC DETERMINATION OF NIFEDIPINEIN PHARMACEUTICAL FORMULATION: FLOW INJECTION ANALYSIS AND SPECTROPHOTOMETRIC DETERMINATION OF NIFEDIPINEIN PHARMACEUTICAL FORMULATION
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A new simple and sensitive spectrophotometric method is described for quantification of Nifedipine (NIF) and their pharmaceutical formulation. The selective method was performed by the reduction of NIF nitro group to yield primary amino group using zinc powder with hydrochloric acid. The produced aromatic amine was submitted to oxidative coupling reaction with pyrocatechol and ammonium ceric nitrate to form orange color product measured spectrophotometrically with maximum absorption at 467nm. The product was determined through flow injection analysis (FIA) system and all the chemical and physical parameters were optimized. The concentration range from 5.0 to 140.0 μg.mL-1 was obeyed Beer’s law with a limit of detection and quantitatio

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Publication Date
Sun Dec 30 2012
Journal Name
Al-kindy College Medical Journal
Evaluation of Medication Errors in Hospitalized Patients
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Objectives: Many medication errors occur in the hospital, and these can endanger patients. The purpose of this study was to evaluate the incidence of medication errors in hospitalized patients, and to categorize the most frequent types of errors, and to asses the possible measures that may prevent the occurrence of such errors.
Methods: A prospective, exploratory, and evaluative study, using direct observation method to detect medication errors in adult hospitalized patients in medical and surgical units in Baquba Teaching Hospital- Diyala-Iraq.. The files of 299 patients had been reviewed from July 2009 to September 2009, including medication orders and treatment sheets to detect existing errors. The detected errors were recorded and

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Publication Date
Wed Oct 18 2023
Journal Name
Iraqi National Journal Of Nursing Specialties
Assessment of Patients’ Compliance with Essential Hypertension
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Objective:
This study aims to asses the patients' compliance with essential hypertension in respect to antihypertensive
medications, follow-up, dietary pattern and health habits, to identify the associated long-term complications, and
to find out the relationship between patient's compliance, and demographic characteristics such as age, gender,
level of education, and duration of disease.
Methodology:
A descriptive study was carried out in Nasiriyah Teaching Hospital to achieve presented objectives .
Results:
The results of the study revealed that there were a significant association between educational level and total
patient's compliance, a significant association was found between the duration of disease and

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Publication Date
Fri Nov 09 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
Psychological Problems of Patients with Colorectal Cancer
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Objective: Assessment the psychological problems in patients with colorectal cancer, and to find out the
relationship between socio-demographic characteristics such as (age, sex, marital status, educational level,
and occupation) and psychological problems for those patients.
Methodology: A descriptive design is employed through the present study from 1
st July 2011 to 25
th December
2011 in order to study the quality of life in colorectal cancer patients with psychological problems.
A purposive (non probability) sample is selected for the study which includes (60) patients diagnosed with
colorectal cancer were treated in Mosul Oncology and Nuclear Medicine hospital or the patients who visited
the outpatient cl

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Publication Date
Fri Mar 01 2019
Journal Name
Research Journal Of Biotechnology
Etiopathogenesis of CMV in rheumatoid arthritis patients
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Rheumatoid arthritis (RA) is one of the autoimmune diseases characterized by the synovial inflammation which causes organs and tissues damage especially synovial tissues and joints. The study included 50 serum samples from patients with rheumatoid arthritis (RA) when compared with 50 serum samples from healthy individuals as control with age range 35 – 60 years (41.3 ± 2.4 years vs. 41.0 ± 2.0 years, respectively). ELISA technique was used to assess the Anti-cyclic citrullinated peptide IgG antibody (anti-CCP IgG Ab) level, anti-rheumatoid factor IgG antibody (anti-RF IgG) and anti-Cytomegalovirus (anti-CMV IgG) antibodies frequencies in the studied groups. The present findings demonstrated that all RA patients have 100% seropositive fr

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Scopus
Publication Date
Sun Nov 04 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
Assessment of Patients’ Compliance with Essential Hypertension
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Objective:
This study aims to asses the patients' compliance with essential hypertension in respect to antihypertensive
medications, follow-up, dietary pattern and health habits, to identify the associated long-term complications, and
to find out the relationship between patient's compliance, and demographic characteristics such as age, gender,
level of education, and duration of disease.
Methodology:
A descriptive study was carried out in Nasiriyah Teaching Hospital to achieve presented objectives .
Results:
The results of the study revealed that there were a significant association between educational level and total
patient's compliance, a significant association was found between the duration of disease and

... Show More
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Publication Date
Fri Jun 20 2025
Journal Name
Bulletin Of The Iraq Natural History Museum
A NEW RECORD OF TWO NEMATODES, MESORHABDITISFRANSENI FUCHS, 1933 (MESORHABDITIDAE) AND PRATYLENCHUSGOODEYI SHER AND ALLEN, 1953 (PRATYLENCHIDAE) WITH MOLECULAR DESCRIPTION FROM IRAQ
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rhabditid Mesorhabditis franseni Fuchs, 1933 (Family, Mesorhabditidae) and pratylenchid nematode Pratylenchus goodeyi Sher and Allen, 1953 (Family, Pratylenchidae). They were illustrated by molecular aspects. All specimens of both genera were cultured and reproduced for DNA extraction. M. franseni (IRQ.ZAh2 PP528819.1 isolate) was characterized. P. goodeyi (IRQ.ZAh5 PP535537 isolate) was also characterized. Selected specimens of these two species were molecularly characterized using the partial ITS-rRNA gene sequences. The ITS-rRNA sequence of IRQ.ZAh2 PP528819.1 isolate had a range of (98.62%-100%) sequence homology with ITS-rRNA sequence of M. franseni available in NCBI database. While, the ITS-rRNA sequence of IRQ.ZAh5 PP535537 isolate h

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