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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
Tue Aug 01 2023
Journal Name
Journal Of Engineering
The Influence of Waste Plastic Fiber on the Characteristics of Light Weight Concrete with Expanded Polystyrene (EPS) as Aggregate
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This research aims to create lightweight concrete mixtures containing waste from local sources, such as expanded polystyrene (EPS) beads and waste plastic fibers (WPFs), all are cheap or free in the Republic of Iraq and without charge. The modern, rigid, and mechanical properties of LWC were investigated, and the results were evaluated. Three mixtures were made, each with different proportions of plastic fibers (0.4%, 0.8%, 1.2%), in addition to a lightweight concrete mixture containing steak fibers (0.4%, 0.8%, 1.2%), in addition to a lightweight concrete mixture. It contains 20% EPS. The study found that the LWC caused by the addition of WPFs reduced the density (lightweight) of the concrete mixtures because EPS tends

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Publication Date
Fri Jun 11 2021
Journal Name
Journal Of Baghdad College Of Dentistry
Management of trauma to the anterior segment of the maxilla: alveolar fracture and primary incisors crown and root fracture
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Background: An injury to both the primary and permanent teeth and the supporting structures is one of the most common dental problems seen in children. Splinting is usually difficult or impossible to perform in the primary dentition (due to diminutive room size and lack of patient cooperation). Healing must, therefore, occur despite mobility at the fracture line, usually resulting in interposition of connective tissue. In some instances, infection will occur in the coronal pulp. The present study reported a case of trauma to the anterior primary teeth and alveolar bone in a four year old child. The trauma has caused fracture to the crowns and roots of the primary anterior teeth. The following case was managed in a procedure that may prov

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Publication Date
Tue Feb 05 2019
Journal Name
Journal Of The College Of Education For Women
Educational Adequacies of Kindergartens’ Teachers and its Relationship with Culturing Child of Kindergarten with Life Environmental Skills – Fieldwork Study
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The current research includes several axes, which determine the basic professional skills among kindergarten teachers and government civil Balraudhat and their relationship to educate kindergarten children with life skills teacher Albaiah.boattabar his career. And this profession imposes upon that possesses special skills, qualify him to do his roles. The teacher experimenter, researcher and owner of philosophy and organizer and director of the positions and educational director of the interactions of classroom and non-classroom. And educational systems that are responsible for the preparation of the emerging needs constant review in order to improve internal Kvaiadtha select the best input consistent with the reality of education, so as

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Publication Date
Mon Feb 04 2019
Journal Name
Journal Of The College Of Education For Women
Study of Television Advertising and its Impact on Consumer Behavior in a Sample of Children Aged 9-12 Years
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The aim of this study was to study TV advertising and consumer behavior in children and to meet the needs of children. The study included 100 children from Baghdad who were randomly selected from different regions ranging in age from 9-12 years of both males and females. The current research was based on the interview and the completion of special forms prepared for this purpose. This age group was selected for the rare studies conducted on television advertising and limited to different sectors. Data on age and sex were documented, as the results of this study proved The afternoon period was the preferred period for watching the TV show in males, where it was 22%, while the morning period was the female favorite, and it was 23%. The ind

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Publication Date
Thu Mar 01 2012
Journal Name
Journal Of Economics And Administrative Sciences
The importance of drafting Arab accounting standards Comparative study in light of international accounting compliance and different environmental factors
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Importance of accounting standards belong to be the instructor and the advisor for accountant in performing his work . For each invironment a group of political, social, economical  and cultural factors which distinguish it about other environments . In  order to perform its aim in produsing accouting information helps in making decisions on different levels, accounting standards should established in a form that harmonized with the environment that apply in it . Establishing international accounting standards comes with the same direction and then it has put influential with standards some states that have influence on international accounting standards committee. So because of the big changes that happened in the inte

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Publication Date
Fri Apr 16 2021
Journal Name
Pharmaceutical Medicine
The Epidemic of Substandard and Falsified Medications in Iraq: Evaluating the Effectiveness of National Pharmacovigilance Alerts to Community Pharmacies
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Publication Date
Wed Sep 15 2021
Journal Name
Journal Of Baghdad College Of Dentistry
Effect of plasma treatment on the bond of soft denture liner to conventional and high impact acrylic denture materials
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Background: The main drawback of soft lining materials was that they debonded from the denture base after a certain period of usage. Therefore, the purpose of this research was to determine the impact of oxygen and argon plasma treatment on the shear bonding strength of soft liners to two different kinds of denture base materials: conventional acrylic resin and high impact acrylic resin. Materials and Methods: Heat cure conventional and high impact acrylic blocks (40 for each group) were prepared. A soft liner connected the final test specimen of two blocks of each acrylic material. Shear bond strength (SBS) was assessed using universal testing machine. Additional blocks were also prepared for analyzing Vickers microhardness, contact ang

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Publication Date
Sat May 01 2021
Journal Name
Key Engineering Materials
Influence of Cu Dopant on SnS Thin Films Characterization and Enhance Efficiency of p-SnS:Cu /n-Si Solar Cell
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Thin films Tin sulfide SnS pure and doped with different ratios of Cu (X=0, 0.01, 0.03 and 0.05) were prepared using thermal evaporation with a vacuum of 4*10-6mbar on two types of substrates n-type Si and glass with (500) nm thickness for solar cell application. X-ray diffraction and AFM analysis were carried out to explain the influence of Cu ratio dopant on structural and morphological properties respectively. SnS phase appeared forming orthorhombic structure with preferred orientation (111), increase the crystallinity degree and surface roughness with increase Cu ratio. UV/Visible measurement revealed the decrease in energy gap from 1.9eV for pure SnS to 1.5 for SnS: Cu (0.05) making these samples suitable f

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Publication Date
Thu Jun 30 2022
Journal Name
International Journal Of Drug Delivery Technology
Evaluation of Antibacterial and Cytotoxicity Properties of Zinc Oxide Nanoparticles Synthesized by Precipitation Method against Methicillin-resistant Staphylococcus aureus
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A novel technique for nanoparticles with a chemical method and impact for resistance bacteria methicillin-resistant Staphylococcus aureus (MRSA), UV-visible analysis confirmed the by Fourier transform infrared spectroscopy (FT-IR) and Energy dispersive X-Ray (EDX), Scanning electron microscope (SEM) and X-ray diffraction pattern estimation antimicrobial excellent antibacterial activity against MRSA (with zone of inhibition of 11 ± 02 mm , 9 ± 01 mm,8 ± 03 mm and 7.5 ± 02 mm and 6.5 ± 02 mm) at different concentrations (0.5 ,0.25, 0.125, 0.0625, 0.03125) mg/ml while good activity was 16 ± 03 mm at 17 ± 02 mm zone at 0.25, 0.125 mg/mL, respectively. The increase in microorganism resistance to antibiotics a couple of have caused

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Publication Date
Wed Dec 01 2021
Journal Name
Int. J. Agricult. Stat. Sci
THE EFFECT OF PUTRESCINE AND SPERMIDINE ON SOMATIC EMBRYOGENESIS AND REGENERATION OF DATE PALM (PHOENIX DACTYLIFERA L.) CV. BARHEE
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The present study was conducted to determine the effect of different concentrations of putrescine and spermidine at all stages of regeneration (callogenesis, somatic embryos multiplication, germination and rooting)) of date palm cultivar Barhee. Shoot tips were eradicated from 2-3 years old offshoots, surface sterilized and inoculated onto Murashiege and Skoog, 1962 (MS) medium supplemented with 20 mg/L 2,4-D and 3 mg/L N6-2-isopentyl adenine (2ip). Primary callus was obtained after 24 weeks on the nutrient medium. Calli were then transferred onto fresh MS medium containing 0.0, 50, 100 or 150 mg/L of putrescine or spermidine individually. Results were recorded after 12 weeks. A significant increase in embryonic callus fresh weights reached

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