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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 May 17 2023
Journal Name
Journal Of Engineering
Development of Quality Rating Evaluation of Outgoing Product Case Study Applied at the General Company for Vegetable Oils
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Research covers the uses the method of Quality Rating Evaluation to evaluate the
quality of production through which a determination of product quality of its production in
order to determine the amount of sales hence the profits for the company. The most important
function is to satisfy consumer at reasonable prices. Methods were applied to the product
(toothpaste) in the General Company for Vegetable Oil – Almaamoon Factory .
The company's has obtained ISO-certified (ISO 9001-2008). Random samples of
final product intended for sale were collected from the store during months (February, April ,
June , October and December) for the year 2011 to determine the "quality rating " through
the applicat

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Publication Date
Sat Dec 05 2020
Journal Name
Iop Conference Series: Materials Science And Engineering, Volume 1067
The effect of cyclic loading on the nonlinear response of structural concrete members with arbitrary cross-sectional shapes
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Publication Date
Sun Mar 13 2011
Journal Name
Baghdad Science Journal
Impact of Rhizobial strains Mixture, Phosphorus and Zinc Applications in Nodulation and Yield of Bean(Phaseolus vulgaris L.)
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Pot experiment was carried out at the College of Agriculture – Baghdad University during autumn season, 2007. Thirteen treatments were formulated to evaluate the effectiveness of four applications of Phosphorus (0, 60, 60×2 and 120 Kg P. h-1) and three applications of Zinc (0, 25×2 mg Zn. L-1 and 50 mg Zn. Kg soil-1) along with inoculating seeds of bean with strains mixture 889 and 1865 and non-inoculated treatment, on nodulation, yield and protein content in seeds (N%). The results showed that inoculated plants exceeded on non-inoculated one in all the studied characteristics. While, P and Zn, applications at the rate of 60×2 kg/ha and 25×2 mg/L respectively, significantly, increased, nodulation, yield, protein content in se

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Publication Date
Fri Feb 01 2019
Journal Name
Journal Of Physics: Conference Series
Calculation of Concentrations and Transfer Factors of Uranium from Soil to Plants Using Nuclear Track Detector CR-39
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In this study, the concentrations of uranium for four species of plants; Spinacia, Brassica Oleracea, BEASSICA Oleracea Var Capitata and Beta Vulgaris were measured in addition to the measurement of uranium concentrations in the selected soil by calculating the number of significant traces of alpha in CR-39. The 2.455 Bq/kg in Spinacia plant were the highest concentration while the lowest concentration of uranium were 1.91 Bq/kg in BEASSICA Oleracea Var Capitata plant. As for the transfer factor, the highest value 0.416 were found in Spinacia plant and the lowest value 0.323 were found in BEASSICA Oleracea Var Capitata plant. The uranium in the models studied in it did not exceed the international limit, according to the International Atomi

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Publication Date
Sat Nov 15 2014
Journal Name
World Journal Of Pharmaceutical Sciences
Prevalence of JAK2 V617F Mutation and Serum Levels of Alkaline Phosphatase and Lactate Dehydrogenase in Chronic Myelogenous Leukemia
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Chronic myelogenous leukemia (CML) is a myeloproliferative neoplasm arises from Bcr-Abl gene translocation(called Ph chromosome) in hematopoietic stem cells (HSCs).JAK2V617F mutation is an acquired singlenucleotide polymorphism (SNP) occurs in JAK2 gene and is associated with many hematological malignancyother than CML. This study aimed to investigate the prevalence of JAK2V617F mutation and serum levels ofalkaline phophatase (ALP) and lactate dehydrogenase (LDH) in Ph+ CML Iraqi patients treated with imatinib.Blood samples were collected from 42 Ph+ CML patients who have been received at least six month therapywith imatinib. DNA was extracted, and real time polymerase chain reaction (qPCR) was used for JAK2V617Fdetection. Serum levels of A

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Publication Date
Sun Feb 10 2019
Journal Name
Journal Of The College Of Education For Women
Woman’s Identity Crisis in the Clash of Cultures: A Study of Betool Khedairi’s Novel: A Sky So close
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This paper is an attempt to clarify the impact of Postcolonialism, one of the most
challenging fields of study that has emerged in recent years, on representations of women in
once-colonised countries and in Western locations. It discusses the influence of cultural
differences on the status and identity of a woman who experience ‗multiculturalism‘. The
study is an analytical reading of a contemporary novel written by the Iraqi writer Betool Al-
Kudairi. The emphasis lies on the clash between two different cultures and traditions
represented by the British mother and the Iraqi father and its effect on the life and identity of
the protagonist. The main focus is on idea of ‗hybrid identity‘ and the absence of th

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Publication Date
Thu Nov 04 2021
Journal Name
Nat. Volatiles & Essent. Oils
Using The Aqueous Extract Of Allium Sativum In Improvement Of Some Physiological And Immunological Parameter In Albino Rats
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The current study was designated to investigate the effect ofAllium sativumon some physiological and immunological parameters in rats. thirty adult rats were divided into three groups (10 rat for each). G1: served as healthy control, G2 :rats were treated with 150 mg\kg of Allium sativum, G3: treated with 300 mg\kg of Allium sativum. All treated animals were givenorally for 30 days. The aspartate , ) ALT ( alanine transaminase on some parameters were investigated such as garlic effects of total and differential counts of white blood , ) LDH ( lactate dehydrogenase ), AST ( transaminase cells(WBC) like Lymphocyte, Monocyte, Neutrophil, Basophil, Eosinophil,as

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Publication Date
Fri Jan 01 2016
Journal Name
Journal Of Engineering
The Effective of Pressure and Sintering Temperature for Hardness Characteristics of Shape Memory Alloy by Using Taguchi Technique
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This paper presents the Taguchi approach for optimization of hardness for  shape memory alloy (Cu-Al-Ni) . The influence of  powder metallurgy parameters on hardness has been investigated. Taguchi technique and ANOVA were used for analysis. Nine experimental runs based on Taguchi’s L9 orthogonal array were performed (OA),for two parameters was study (Pressure and sintering temperature) for three different levels (300 ,500 and 700) MPa ,(700 ,800 and  900)oC respectively . Main effect, signal-to-noise (S/N) ratio was study, and analysis of variance (ANOVA) using  to investigate the micro-hardness characteristics of the shape memory alloy .after application the result of study shown the hei

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Publication Date
Sun May 07 2017
Journal Name
Ibn Al-haitham Journal For Pure And Applied Sciences
Numerical Simulation to Study the Effects of Riemann Problems on the Physical Properties of the Astrophysics Gas Dynamics
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In this work we run simulation of gas dynamic problems to study the effects of Riemann
problems on the physical properties for this gas.
We studied a normal shock wave travels at a high speed through a medium (shock tube). This
would cause discontinuous change in the characteristics of the medium, such as rapid rise in
velocity, pressure, and density of the flow.
When a shock wave passes through the medium, the total energy is preserved but the energy
which can be extracted as work decreases and entropy increases.
The shock tube is initially divided into a driver and a driven section by a diaphragm. The
shock wave is created by increasing the pressure in the driver section until the diaphragm bursts,
se

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Publication Date
Wed Mar 19 2008
Journal Name
Ibn Al-haitham Journal For Pure And Applied Science
Synthesis and Characterisation of Novel Cobalt (li), Copper (II) and Mercury (II) Complexes of Poly Vinyl Urethanised Oxime
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The reaction of poly (vinyl alcohol) (PV A) with Urea in (DMSO) resulted in uerthanised oxim, wr,ich reacted with diacetylmonoxime in a (DY.ISOfmethanol) to give anew type (N2) polymeric bidentate imine oxime ligand [HL], The ligand was reacted with MCh (where M= Co, Cu, and Hg). Under reflux in a (DMF/Methanol) mixture with (I:1) ratio to give Complexes of the general formula [M (T.)2]X, (where M= Co,Hg, Cu). All .:ompouncs have been characterized by spectroscopic methods [IR, U.V.-Vis, A tomi<;absorption] microanalysis along with conductivity measurements, from the above:: data the proposed molecular structure for Co,Cu, and Hg is a distorted. Tetrahedml