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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
Fri Jan 03 2020
Journal Name
Chalcogenide Letters
THE EFFECT OF Ag CONTENT AND HEAT TREATMENT ON STRUCTURAL AND MORPHOLOGICAL PROPERTIES OF THIN (Cu1-xAgx)2 ZnSnSe4 FILMS
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(Cu1-x,Agx)2ZnSnSe4 alloys have been fabricated with different Ag content(x=0, 0.1, and 0.2) successfully from their elements. Thin films of these alloys have been deposited on coring glass substrate at room temperature by thermal evaporation technique under vacuum of 10-5Torr with thickness of 800nm and deposition rate of 0.53 nm/sec. Later, films have been annealed in vacuum at (373, and 473)K, for one hour. The crystal structure of fabricated alloys and as deposited thin films had been examined by XRD analysis, which confirms the formation of tetragonal phase in [112] direction, and no secondary phases are founded. The shifting of main polycrystalline peak (112) to lower Bragg’s angle as compared to Cu2ZnSnSe4 angle refers to incorpora

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Publication Date
Fri Sep 01 2023
Journal Name
Iranian Journal Of Veterinary Science And Technology
Investigation of bacterial contamination with Klebsilla and E. coli in the prepucal cavity of pubertal and adult age in caprine
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Publication Date
Sat Feb 02 2019
Journal Name
Journal Of The College Of Education For Women
Defining the Feature of Cold Wave (Al-Marba'aniyah) in Iraq: Defining the Feature of Cold Wave (Al-Marba'aniyah) in Iraq
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Abstract:
Al-Marba'aniyah, which is a long cold wave, was defined by ancient
Iraqis. It represents the coldest days in Iraq. In this research paper, a new
scale was put to define it. It shows that the period between the minimum
temperature degree recoded in December and the minimum temperature
degree recorded in January is considered to be the period of Al-Marba'aniyah.
The research concluded that Al-Marba'aniyah is unsteady and it changes in
the days of its occurrence. It was also concluded that the dates of the
beginning and the end of Al-Marba'aniyah are unsteady, too. Moreover, it was
found out that each of the Siberian high, European high, and finally the
subtropical high are the responsible systems for

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Publication Date
Sat Dec 31 2016
Journal Name
Al-kindy College Medical Journal
Trends of Neonatal Mortality in context of Case Overload in Al - Alwyia Pediatric Teaching Hospital at Baghdad during 2005-2012
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Background: Data on the impact of neonatal and total pediatric admissions volume on neonatal mortality are sparse. Objectives: This study is done to estimate the neonatal mortality in relation to neonatal admissions and to total hospital admissions in Al-Alwyia Pediatric Teaching Hospital through years 2005-2012 Type of the study: A retrospective study.Methods: statistical records of all cases admitted to APTH were studied during 2005-2012.Results: Neonatal mortality decreased to the nadir at last year of study period (2012) and reached 6.1% of neonatal admissions compared to 2005 level which was 9.7 %. Mortality rate among premature and low birth weight (LBW) infants decreased also. The study also reveals that neonatal mortality constit

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Publication Date
Fri Mar 01 2019
Journal Name
Journal Of Accounting And Financial Studies ( Jafs )
The impact of the core Competence for audit companies & offices On the Earning Quality of banks in Iraq Stock Exchange
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The research aims at measuring the extent of the relationship and influence of the indicators of the Core competencies of the audit firms and offices in the Earning Quality of the private banks listed in the Iraq Stock Exchange under audit. The research community represents 38 banks. The sample of the research has been approved only 10 banks continue to issue their financial statements for the period (2007 – 2017), in addition to the audit offices assigned to audit these banks, which amounted to 14 companies and auditing offices. John's (1999) model revised by Kothari et al., (2005) was adopted to measure the Earning Quality by finding discretionary accruals and non-discretionary accruals, to measure the Core competencies indicators ,

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Crossref
Publication Date
Thu Oct 31 2019
Journal Name
Journal Of Engineering And Applied Sciences
Comparison of Estimate Methods of Multiple Linear Regression Model with Auto-Correlated Errors when the Error Distributed with General Logistic
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In this research, we studied the multiple linear regression models for two variables in the presence of the autocorrelation problem for the error term observations and when the error is distributed with general logistic distribution. The auto regression model is involved in the studying and analyzing of the relationship between the variables, and through this relationship, the forecasting is completed with the variables as values. A simulation technique is used for comparison methods depending on the mean square error criteria in where the estimation methods that were used are (Generalized Least Squares, M Robust, and Laplace), and for different sizes of samples (20, 40, 60, 80, 100, 120). The M robust method is demonstrated the best metho

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Publication Date
Mon Jan 01 2018
Journal Name
International Journal Of Chemtech Research
Liquid Chromatographic and validation study in separation and determination of benzidines and phenols in the main discharge point of wastewater
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Publication Date
Sun Jun 30 2019
Journal Name
Journal Of Global Pharma Technology
Synthesis, Spectral and Antibacterial Activity of Mixed Ligand from Lanthanium (III) Complexes of Schiff Base Ligand with Some Amino Acids
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In this work, lanthanium (III) complexes were synthesized using by Schiff base ligand (L) derived from benzaldehyde and o-aminoaniline with five amino acids (AA) from glycine (Gly), L-alanine (Ala), L-valine (Val), L-asparagine (Asp) and DL- phenylalanine (Phe). The Schiff base ligand has been characterized by elemental analysis, (MASS, FTIR, 1HNMR, 13CNMR, UV-VIS) electronic spectra. The structures of the new complexes have been described of analysis of elements, molar conductivity, (UV-Vis electronic, FTIR, mass) spectra also magnetic moment. The molar conductivity values of the complexes indicat this every of complexes are electrolytes and other analytical studies reveal octahedral geometry for La (III) ion. The Schiff base ligand, five

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Publication Date
Sun May 15 2022
Journal Name
Bionatura
Comparison between the presence and absence of mixing in the anaerobic biological treatment of liquid waste for the cheese industry
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Many nations are seeing an increase in water pollution from dairy and cheese production due to the high organic and fat content in their waste products and the high temperature of their waste products, which elevates the water temperature and causes loss to ecosystem components. Reusing industrial wastewater that has been treated to guarantee no harm has been done to the environment is being hampered by a lack of water. This study compares the presence and absence of mixing in the anaerobic biological treatment of liquid waste for the cheese industry. To decrease heat exchange with the external environment, cube-shaped anaerobic reactors with dimensions of (30 x 30 x 30) cm and thick glass (10 mm) were utilized in this investigation

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Publication Date
Fri Mar 22 2019
Journal Name
Journal Of Pharmaceutical Sciences And Research
Evaluation of the efficacy of caries removal using papain gel (Brix 3000) and smart preparation bur (in vivo comparative study)‏
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