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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
Sat Dec 31 2022
Journal Name
Iraqi Journal Of Market Research And Consumer Protection
EFFECT OF ORGANIC FERTILIZER SOURCRS AND CHEMICL FERTILIZATION ON SOME SOIL PHYSICL TRAITS AND YIELD OF SUMMER SQUASH (Cucurbta Pepo L.): EFFECT OF ORGANIC FERTILIZER SOURCRS AND CHEMICL FERTILIZATION ON SOME SOIL PHYSICL TRAITS AND YIELD OF SUMMER SQUASH (Cucurbta Pepo L.)
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ABSTRACT

            The results showed that the organic fertilizer mixture (1:1) 30 tons/ha with chemical fertilization recorded the lowest level of bulk density of 1.2 g/cm3, the organic fertilizer mixture (1:1) 30 tons/ha with chemical fertilization recorded the highest percentage of aggregation stability amounting to 16.17%, the organic fertilizer palm fronds recorded the highest level of ready water with an average of 5.50 cm3/cm3 and the organic fertilizer mixture (1:1) 30 tons/ha without chemical fertilization recorded the highest level of ready water as it reached 6.93%, the or

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Publication Date
Mon Mar 08 2021
Journal Name
Baghdad Science Journal
Synthesis of some polyimides by different methods
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in this work the polymides were prepared as rthemally stable polymers by diffrent ways

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Publication Date
Fri Mar 31 2017
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Detection of Cholesterol in Suaeda Baccata (Chenopodiaceae)
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This study detects the presence of cholesterol in an Iraqi plant named Suaeda baccata Forsk of the family Chenopodiacae, wildly and widely grown in Iraq. The absence of any publication concerning the sterol content of this Suaeda specie, and the industrial importance of cholesterol depending on its role as a precursor in the synthesis of some hormones, like progesterone, acquired this study its value. The investigations revealed the presence of cholesterol that was proved by TLC together with the standard compound cholesterol, and anisaldehyde spray reagent using three different solvent systems, then authenticated by HPLC, in which the reten

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Publication Date
Thu Jan 31 2019
Journal Name
Journal Of The College Of Education For Women
Assess the quality of air Basra province
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Iraqi provinces suffer many of the environmental problems, appear explained these problems in the city of Basra, Basra, the largest province and is among Iraq's provinces in the annexation of oil fields, which is experiencing an oil production operations of large, it suffers from the burning of gas associated with oil extraction resulting in the emission severe gas process including toxic hydrogen sulfide gas (h2S) and oxides of carbon, sulfur and nitrogen in addition to the release of toxic metal elements such as mercury, arsenic, vanadium, which caused the man many serious diseases. , And perhaps one of the most important of these problems are worsening air quality and increasing cases of air pollution and the deterioration of the qual

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Publication Date
Sat Jan 01 2022
Journal Name
Indian Journal Of Ecology
ROLE OF HELICOBACTER PYLORI IN EYE DISEASES
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The study conducted to investigate the association between Helicobacter pylori infection and eye diseases (Glaucoma, Cataract, CSR and Uveitis). One hundred and four patients with multiple eye disorders (10-80) years were observed from 10/9 to 18/11/2020 and compared to thirty-one healthy people (19 female and 12 male). Both participants were tested for anti-H. pylori IgA, and IgG antibodies using ELISA. There were non –significant differences (P≥0.05) in the concentration of anti-H. pylori IgA Abs in sera of patients with Glaucoma, CSR, and Uveitis compared to the control group, but there was a significant difference (P≤0.05) in the concentration of H. pylori IgA Abs in sera of patients with Cataract compared to the control group and

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Publication Date
Sun Dec 30 2001
Journal Name
Iraqi Journal Of Chemical And Petroleum Engineering
Isolation Behavior of Metal Modified Novolac Resin
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Publication Date
Fri Jul 21 2023
Journal Name
Journal Of Engineering
Static Performance Characteristics Of Vortex Rate Sensor
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The vortex rate sensor is a fluidic gyroscope with no moving parts and can be used in very difficult conditions like radiation, high temperature and noise with minimum cost of manufacturing and maintenance. A vortex rate sensor made of wood has been designed and manufactured to study theoretically and experimentally its static performance .A rig has been built to carry out the study,
the test carried out with three different air flow rates (100, 150, and 200 l/min).The results show that the relation between the differential pressure taken from the sensor pickoff points and the angular velocity of the sensor was linear.The present work involved theoretical and experimental study of vortex rate sensor static characteristics .Vortex rat

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Publication Date
Fri Jun 29 2018
Journal Name
Journal Of The College Of Education For Women
Role of Christian Wives in Elijahian Policy
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Role of Christian Wives in Elijahian Policy

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Publication Date
Wed Mar 29 2017
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Controlled Release Floating Matrix Tablet of Captopril
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The present study was done to prepare a gastroretentive floating tablet of captopril (CAP) which is an angiotensin converting enzyme inhibitor (ACE-inhibitor) used in the treatment of hypertension and heart failure. CAP is mainly absorbed from the proximal intestine and to a lesser extent from the stomach, also CAP stability decreases as the pH raised above 1.2 and this makes it a suitable candidate for floating dosage form.Effervescent floating tablets of CAP were prepared in order to prolong the gastric residence time and increase the bioavailability of the drug. The floating tablets of CAP were prepared by direct compression and wet granulation technique, using the polymer hydroxypropylmethylcellulose (HPMC) as the primary retarding p

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Publication Date
Thu Apr 21 2016
Journal Name
Australian Journal Of Basic And Applied Sciences
Sensing Properties of (In2O3:Eu) Thin Films
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Thin films of iridium doped indium oxide (In2O3:Eu)with different doping ratio(0,3,5,7,and 9%) are prepared on glass and single crystal silicon wafer substrates using spray pyrolysis method. The goal of this research is to investigate the effect of doping ratio on of the structural, optical and sensing properties . The structure of the prepared thin films was characterized at room temperature using X-ray diffraction. The results showed that all the undoped and doped (In2O3:Eu)samples are polycrystalline in structure and nearly stoichiometric. UV-visible spectrophotometer in the wavelength range (200-1100nm)was used to determine the optical energy gap and optical constants. The optical transmittance of 83% and the optical band gap of 5.2eV

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