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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
Wed Apr 30 2014
Journal Name
Ibn Al-haitham Journal For Pure And Applied Sciences
Relationship Between Interleukin -33( IL-33) and C- Reactive Protein in Iraqi Women Patients with Celiac Disease
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Interleukin -33 is a new member of the IL-1 superfamily of cytokines that is expressed mainly by stromal cells.Its expression is upregulated following pro-inflammatory stimulation.Aim of the present study was to assess the serum IL-33 level and its relationship with inflammatory biomarker CRP in Iraqi females patients with celiac disease. Thirty five patients with celiac disease (CD) and thirty healthy individuals as control group were enrolled in this study,their age ranged (20-35) year.Anti-Gliadin IgA ,IgG and Anti-Tissue IgA ,IgG were estimated in all subjects as diagnostic parameters .ESR and CRP were assayed as inflammatory biomarkers. IL-33 was determined in patients and control groups.The results of the present study revealed a hig

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Publication Date
Sun Dec 27 2020
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
CYP2D6 Genotype in Relation to Liver Toxicity Due to Tetrabenazine in Iraqi Patients with Hyperkinetic Movement Disorders
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Abstract

The  common types of movement disorders are ; dystonia which is a syndrome  of  repetitive muscle contractions. While , Huntington disease is autosomal dominant progressive neurodegenerative disorder, which is characterized by involuntary movements (“chorea”).

Tetrabenazine therapy has been shown to effectively control this movements compared with placebo.

Design the proper dosing approach for patients treated with tetrabenazine with genotype polymorphisms and their hepatic effect on patients.

A prospective case controlled study was carried on 50 patients whom    divided into 2 groups :first group involved 25 patients who had cho

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Publication Date
Sun Sep 07 2014
Journal Name
Baghdad Science Journal
Study ABO / Rh Systems with IL-18 & IL-33 in Iraqi Patients with Diabetes Mellitus Type II
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Type 2 diabetes mellitus (DM) is a group of metabolic disorder disease. The inflammatory markers act as a new risk factor for development of type 2 diabetes with a possible association with ABO/Rh blood groups. Human ABO genes are located on chromosome 9q34.1-q34.2. The aim of this study was to investigate the possible association between inflammatory markers, interleukin (IL) -18 and IL-33 in type 2DM and ABO blood groups. Sixty four patients with newly diagnosed type2 DM and control group consist of twenty healthy Iraqi individual. Laboratory test were include ABO blood groups using standard serological procedures and detection IL-18 and IL-33 in serum by ELISA kits. The Present data showed a significant increase i

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Publication Date
Tue Dec 29 2020
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Medication Safety in Patients under 18 Years Old; a Retrospective Study based on Iraqi Pharmacovigilance Center Database
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Medication safety is an important part of the comprehensive patient safety term. Medication safety is gaining more attention as the World Health Organization set the goal of decreasing medication harm by (50%) for the next 5 years when launching the third global challenge. Studying medication safety in the risk groups such as young ages, children are crucial to learn more about the effect of medicines in this risk group since they are not included in the clinical trials. Adverse drug reaction is defined as any harm resulted from the drug itself during medical process journey, while medication errors are any harm resulted from the treatment process rather than the drug or it is the result of the failure in a step of the treatment process

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Publication Date
Sat Apr 01 2017
Journal Name
Journal Of Economics And Administrative Sciences
Estimation & Analysis Relationship between Growth rate GDP and Unemployment Rate In Iraqi Economic in Period (1990-2014)
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It reflects the gross domestic product in any country total output of goods and services by the size of the country's citizens and foreign residents during the period of the year and reflect the contribution of the commodity sectors of the economy and the distribution and service in the composition of output. And gross domestic product in Iraq as an indicator dominated in the composition of oil output, along with the contribution of the service sector, as the gross domestic product is the output of a yield lien   and subjected GDP in Iraq to a series of declines succession due to vibrations of the oil market during the economic blockade on the one hand and stop imported production inputs, lack of arriving in commodity s

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Publication Date
Thu Jun 10 2021
Journal Name
Engineering, Technology &amp; Applied Science Research
Corruption Risk Analysis at the Project Planning Stage in the Iraqi Construction Sector using the Bowtie Methodology
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In this paper, the bowtie method was utilized by a multidisciplinary team in the Federal Board of Supreme Audit (FBSA)for the purpose of managing corruption risks threatening the Iraqi construction sector. Corruption in Iraq is a widespread phenomenon that threatens to degrade society and halt the wheel of economic development, so it must be reduced through appropriate strategies. A total of eleven corruption risks have been identified by the involved parties in corruption and were analyzed by using probability and impact matrix and their priority has been ranked. Bowtie analysis was conducted on four factors with high score risk in causing corruption in the planning stage. The number and effectiveness of the existing proactive meas

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Publication Date
Wed Jun 10 2026
Journal Name
Journal Of Physical Education
Comparing Angiotensin Gene polymorphisms According to Mechanical Ability for Weightlifter Selection
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Publication Date
Mon May 23 2022
Journal Name
International Journal Of Molecular Sciences
Physoxia Influences Global and Gene-Specific Methylation in Pluripotent Stem Cells
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Pluripotent stem cells (PSC) possess unlimited proliferation, self-renewal, and a differentiation capacity spanning all germ layers. Appropriate culture conditions are important for the maintenance of self-renewal, pluripotency, proliferation, differentiation, and epigenetic states. Oxygen concentrations vary across different human tissues depending on precise cell location and proximity to vascularisation. The bulk of PSC culture-based research is performed in a physiologically hyperoxic, air oxygen (21% O2) environment, with numerous reports now detailing the impact of a physiologic normoxia (physoxia), low oxygen culture in the maintenance of stemness, survival, morphology, proliferation, differentiation potential, and epigenetic

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Publication Date
Tue Jan 01 2019
Journal Name
Indian Journal Of Public Health Research &amp; Development
Impact of Breast Feeding Duration on the Presence of <i>Candida</i> in Relation to Nonnutritive Sucking Habit among Group of Iraqi Children
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Publication Date
Thu Sep 15 2022
Journal Name
Alustath Journal
Semantic Analysis of Proverbs: A Conversation Analysis
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Proverbs are considered as a major source of ancient events and happenings. Similar to other past events related to life, proverbs have many important and famous values in people's life. This study will shed lights on the use of proverbs as short sentences based on long experiences. The aim of the study is to explicate the roles, and the importance of proverbs in our life and how they are used to convey thoughts to people throughout simple words with denotation. Thus, proverbs explicate the truth and experience of our grandfathers when directed for criticism. Few proverbs were used by writers to criticize, mimic and reprint their personalities. Hence, proverbs will achieve portions of the unique roles of understanding. The model to

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