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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 Dec 01 2009
Journal Name
Iraqi Journal Of Physics
Oscillator Strength and Quantum Efficiency of Fluoranthene Molecule
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The fluorescence and absorption spectra of Fluoranthene dissolved in
cyclohexane and ethanol were studied and analyzed. The effect of the
concentration of this molecule and the polarity of the solvents on the spectral
shifts and on relative intensity has been investigated. A computational program
was written in order to convert the spectra from grapher to data. Some
photophysical parameters such as oscillator strength and quantum efficiency have
been calculated. Fluorescence quantum efficiency of Fluoranthene was measured
relative to Quinine Sulfate (QS) in 1N H2SO4. The obtained values were (0.5) in
cyclohexane and (0.45) in ethanol

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Publication Date
Thu Jun 30 2022
Journal Name
International Journal Of Drug Delivery Technology
Histological Study on Bird Cerebellum of Pycnonotus leucotis
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Histological study of the cerebellum in a bird white cheeked bulbul Pycnonotus lecucotis, the result of the study showed that the cerebellum took the parts of the hindbrain, the histological study of the cerebellum revealed the presence of deep folds on its surface. The cerebellum consists of two areas, the cerebellar cortex, which is called the gray matter, which consists of three layers: the outer layer (the molecular layer), the middle (Purkinje cells) and inner layer (the granular layer). The second area of the cerebellum is called the medullary and the white matter.

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Publication Date
Sun Jun 30 2019
Journal Name
Journal Of The College Of Education For Women
The Impact of Home Economics on High Performance
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يسعى هذا البحث الى تقديم اطار عملي ونظري حول موضوع "تأثير الاقتصاد المنزلي في تعزيز الاداء العالي" وتم اختبار مخطط الدراسة الفرضي في القطاع التعليمي الحكومي في محافظة البصرة ,ويتضمن عدد من تشكيلات الجامعة التقنية الجنوبية. واستخدمت الاستبانة والمقابلة الشخصية كأسلوب لجمع البيانات للدراسة وكان حجم العينة114 موظف. وقد استخدمت عدد من الاساليب الاحصائية لاختبار فرضيات الدراسة. واظهرت النتائج بأن هناك تأثير ايج

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Publication Date
Sun Oct 01 2017
Journal Name
Journal Of Educational And Psychological Researches
Obstacles to development in the field of education
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Education is the most powerful and important weapon in fighting poverty and unemployment because it provides students with new skills that appropriate the new market requirements and fair distribution of natural resources. It also transfers knowledge, skills, and ethics over generations. Education aims to create effective leaders who go under training and rehabilitation process, create a new human and instill faith, generate the creativity and innovation, and keep abreast with scientific process, updating curriculum, and finally, applying the technical education

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Publication Date
Tue Jun 14 2022
Journal Name
Al-academy
Semantic reflection of rhetorical expression in brand design
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The rhetoric is concerned with the expressive emphasis of things, the science of the statement takes the treatment of graphic images and rhetorical fiction, and in the science of the exquisite dealing with the study of verbal and moral improvements, and in the science of meanings took all related to compositions and methods, and these vocabulary entered into the field of art and its branches largely, especially in the uncle and art of design because it has a major role in including a lot of biological functions with a deep meaning of its comprehensiveness on the multiplicity of real meanings characterized by suggestive and important and semantics refer to the recipient in the research to refer to the recipient The discovery of the intern

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Publication Date
Sat Apr 01 2023
Journal Name
Journal Of Engineering
Effect of Surface Pavement Type on Traffic Noise
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This paper investigates the issue of surface-type effects on traffic noise in Baghdad. Since the raw materials for both flexible and rigid paving are available from local sources, the decision on selecting the type of paving which depends on the budget of the project and the road's importance and function. Knowing that for high traffic volumes and a high percentage of heavy vehicles, rigid pavement is more suitable compared to flexible pavement. In Baghdad, some highways consist of flexible pavement and others of combined pavement (flexible segments and rigid segments), so the study of the effect of surface type on traffic noise becomes an important matter. This study selected three highways: one with flexible pavement and two with combined

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Publication Date
Sat Oct 19 2024
Journal Name
Chemical Papers
Hydroisomerization of n-hexane over Pt/TiO2 catalysts
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One of the most important processes to obtain gasoline with high octane numbers is isomerization. In this paper, Pt/TiO2 was prepared successfully by using the sol–gel method by hydrolysis of titanium tetraisopropoxide as a titania source with ethanol and then platinum was loaded on the synthesized catalyst; the result shows that the sample prepared has a good crystallinity with a surface area of about 85 m2 /g and a pore volume of 0.1938 cm3 /g, while XRD shows that the prepared sample was anatase phase. The efect of both temperature and liquid hourly space velocity of the prepared catalyst was achieved by hydroisomerization of n-hexane in a fxed bed reactor with a temperature of 200–275 °C and LHSV 0.5–2h−1. The results show

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Publication Date
Fri Feb 02 2018
Journal Name
International Journal Of Science And Research (ijsr)
The Compressibility of Clayey Soils Reinforced with Fiberglass
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During the prior three decades numerous research works presented to investigate the behavior of reinforced soil. A, IJSR, Call for Papers, Online Journal

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Publication Date
Fri Mar 01 2019
Journal Name
Al-khwarizmi Engineering Journal
Mass-Transfer Characteristics of Air- Suction Type Fermentors
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Liquid-side mass-transfer coefficients (KLa) were measured in air-suction type fermentors using physical absorption of oxygen.  A fermentor of 0. 5 m i.d. was used with a working capacity of 60 liters of liquid. Tap water was used as the liquid phase, and air was used as the gas phase. The bioreactor mixing system consists of shrouded-disk/curved-blade turbine with six evacuated bending blades. The effect of liquid submergence (S) was investigated. Further, the effects of the ratio of the impeller diameter (D) to the tank diameter (T), and the clearance of the impeller from the tank bottom(C) were also studied.  The agitation speed (N) was varied in the range of 50-800 rpm. It was found that the value of  K

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Publication Date
Mon Oct 01 2018
Journal Name
Iraqi Journal Of Physics
The study of nuclear structure for some nuclei
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 An analytical form of the ground state charge density distributions
for the low mass fp shell nuclei ( 40  A  56 ) is derived from a
simple method based on the use of the single particle wave functions
of the harmonic oscillator potential and the occupation numbers of
the states, which are determined from the comparison between theory
and experiment.
For investigating the inelastic longitudinal electron scattering form
factors, an expression for the transition charge density is studied
where the deformation in nuclear collective modes is taken into
consideration besides the shell model space transition density. The
core polarization transition density is evaluated by adopting the
shape of Tass

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