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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 01 2012
Journal Name
1st Scientific Conference Of Medical Group Colleges
carnal dimorphism of femur distal. extremity
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University of Baghdad college of Medicine - Cited by 1 - Human Anatomy

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Publication Date
Sun Feb 03 2019
Journal Name
Iraqi Journal Of Physics
Calibration of ionization chamber survey meter
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Radiation measuring devices need to process calibration which
lose their sensitivity and the extent of the response and the amount of
stability under a changing conditions from time to time and this
period depends on the nature and use of field in which used devices.
A comparison study was done to a (451P) (ionization chamber
survey meter) and this showed the variation of calibration factor in
five different years. This study also displayed the concept of
radiation instrument calibration and necessity of every year
calibration of them.
In this project we used the five years calibration data for ionization
chamber survey meter model Inspector (451P) to get that the values
of Calibration Factor (CF) and Res

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Publication Date
Sat Oct 01 2011
Journal Name
Iraqi Journal Of Physics
Electrochemical deposition of CuInS2 thin films
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Chalcopyrite thin films were one-step potentiostatically deposited onto stainless steel plates from aqueous solution containing CuSO4, In2(SO4)3 and Na2S2O3.The ratio of (In3+:Cu2+) which involved in the solution and The effect of cathodic potentials on the structural had been studied. X-ray diffraction (XRD) patterns for deposited films showed that the suitable ratio of (In3+:Cu2+) =6:1, and suitable voltage is -0.90 V versus (Ag/AgCl) reference electrode

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Publication Date
Thu Jan 01 2009
Journal Name
2009 Wri International Conference On Communications And Mobile Computing
Optimization of Cooperation Sensing Spectrum Performance
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Cooperation spectrum sensing in cognitive radio networks has an analogy to a distributed decision in wireless sensor networks, where each sensor make local decision and those decision result are reported to a fusion center to give the final decision according to some fusion rules. In this paper the performance of cooperative spectrum sensing examines using new optimization strategy to find optimal weight and threshold curves that enables each secondary user senses the spectrum environment independently according to a floating threshold with respect to his local environment. Our proposed approach depends on proving the convexity of the famous optimization problem in cooperative spectrum sensing that stated maximizing the probability of detec

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Publication Date
Wed Jun 26 2019
Journal Name
Iraqi Journal Of Science
Production of Aspartame by Immobilized Thermolysin
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The aim of this study was the production of aspartame by using immobilized thermolysin in bentonite clay. The yield of immobilized thermolysin in bentonite was 92% of the original enzyme amount. pH profile of free and immobilized enzyme was 7.0 and 7.5 respectively which was stable at 6.5-9.0 for 30min. The optimum temperature of both enzymes was 50°C, while they were stable at 65°C for 30min. however, they lost 52.73 and 61.72% from its main activity at 80°C respectively. Immobilized thermolysin has retained all activity within 27 days, but it kept 68.27% of initial activity when stored for 60 days at 4°C whereas, it retained a full activity after 20 continue usage. In addition, it retained 86.53% of its original activity af

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Publication Date
Sat Dec 21 2019
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Clinical Complications of Beta-Thalassemia Major
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Beata thalassemia

Beta thalassemia syndrome by reduction or absence of B-globin chain synthesis. Without iron chelation therapy (ICT) the regular blood transfusion would increase the iron stores to several times. Endocrine glands are vulnerable to iron overload causing endocrine dysfunction.  Iron deposition within the parathyroid gland causes hypoparathyroidism particularly after ten years of age. Pancreatic islets are very susceptible to oxidative damage due to iron overload; their high divalent metal expression makes them highly susceptible to iron-catalyzing oxidative stress. The pathogenicity of osteopathy in  is multifactorial comprising environmental (diet and lifestyle), iatrogenic (medicines), genetic and acqui

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Publication Date
Wed Feb 01 2023
Journal Name
Baghdad Science Journal
Order Sum Graph of a Group
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The concept of the order sum graph associated with a finite group based on the order of the group and order of group elements is introduced. Some of the properties and characteristics such as size, chromatic number, domination number, diameter, circumference, independence number, clique number, vertex connectivity, spectra, and Laplacian spectra of the order sum graph are determined. Characterizations of the order sum graph to be complete, perfect, etc. are also obtained.

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Publication Date
Thu Apr 29 2021
Journal Name
Iraqi Journal Of Science
Thermal Properties of Polyester/Epoxy Blend
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Unsaturated polyester toughened Epoxy was developed. Epoxy resin had toughened by weight fraction of 10, 20, 30, and 40 wt. % unsaturated polyester. FTIR spectroscopy has been used to investigating the intermolecular hydrogen bonding. Unsaturated polyester–epoxy matrices were characterized for their thermal properties. The FTIR test detected a peak shift of the functional groups which can explain cross-linking occurs between the two resins. The crosslinking between epoxy and unsaturated polyester confirmed via the existence of the stretching asymmetrical C-C band and contraction of the  C-O band. The DSC test demonstrated that glass transition temperature value decreases with epoxy strengthening. The specific heat capacity and the

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Publication Date
Wed Nov 30 2022
Journal Name
Iraqi Journal Of Science
New Generalizations of Soft LC-Spaces
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      In this article, we introduce a new type of soft spaces namely, soft  spaces as   a generalization of soft paces. Also, we study the weak forms of soft  spaces, namely, soft  spaces, soft  spaces, soft  space, and soft  spaces. The characterizations and fundamental properties related to these types of soft spaces and the relationships among them are also discussed.

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Publication Date
Wed May 25 2022
Journal Name
Iraqi Journal Of Science
New Results of Normed Approach Space
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     In this work, we introduce  a new convergence formula. We also define cluster point , δ-Cauchy sequence, δ-convergent, δ-completeness , and define sequentially contraction  in approach space. In addition, we prove the contraction condition is necessary and sufficient to get the  function is sequentially contraction  as well as we put a new structure for the norm in the approach space which is called approach –Banach space, we discuss the normed approach space with uniform condition is a Hausdorff space. Also, we prove a normed approach space is complete if and only if the metric generated from approach space is complete as well as prove every finite –dimensional approach normed space is δ-complete. We prove several r

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