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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
Thu Jan 01 2015
Journal Name
Iraqi Postgraduate Medical Journal
Immunohistochemical Study of Leydig Cells in the Testicular Interstitial Tissue of Rats Treated with Tribulus Terrestris Using P450scc.
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BACKGROUND: Tribulus terrestris has been commonly used in folk medicine to energize, vitalize and improve sexual function and physical performance in men and laboratory rats. OBJECTIVE: To study the effect of Tribulus terrestris on the number of Leydig cells. MATERIALS AND METHODS: Tribulus terrestris was given to mature male rats as an oral single herbal suspension in a dose of 2.0mg /1000gbody weight for 14 days to stimulate spermatogenesis. Formalin fixed paraffinembedded tissue sections were performed for histological, immunohistochemical and morphometrical studies. RESULTS: Histological study revealed wider seminiferous tubules and increased spermatocytes population with an increased sperm density inside the lumen of the tubul

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Publication Date
Fri Jun 01 2018
Journal Name
Kerbala Journal Of Medicine
Polymerase Chain Reaction Testing in Comparison to Culture of Cerebrospinal Fluid for Diagnosis of Bacterial Meningitis in Children
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Publication Date
Tue Jan 01 2019
Journal Name
Journal Of Engineering And Applied Sciences
Effect Of Aluminum On The Structural, Optical, Electrical And Photovoltaic Properties Of ZnSe/n-Si Heterojunction Solar Cell
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Aluminum doped zinc selenide ZnSe/n-Si thin films of (250∓20 nm) thickness with (0.01, 0.02 and 0.03), are depositing on the two type of substrate (glass and n-Si) to manufacture (ZnSe/n-Si) solar cell through using thermal vacuum evaporation procedure. physical and optoelectronic properties were examined for the samples. X-Ray and AFM techniques are using to study the structure properties. The energy band gap of as-deposited ZnSe thin films for changed dopant ratio were ranging from (2.6-2.68 eV). The results of Hall effect show that pure and doping films were (p-type), and the concentration carriers and the carriers mobility increases with increase Al-dopant ratio. The (C-V) have shown that the heterojunction were of abrupt type. In add

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Publication Date
Tue Feb 09 2021
Journal Name
Palarch’s Journal Of Archaeology Of Egypt/egyptology
The effect of Five-Finger strategy on the holistic thinking of chemistry student in the second intermediate grade
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The objective of the research is to identify the effect of the five-finger strategy on the holistic thinking of chemistry students in the second intermediate grade, where the sample consisted of 60 female students in a second classfrom one of the intermediate schools in Baghdad city, divided into two groups: control and experimental. The experimental design was based on the partial control; the scientific course was defined in the third and fourth chapters of the science book of the second intermediate grade.The two research tools were prepared: the attainment test with the scientific course and the holistic thinking scale paragraph (36) of multiple-choice pre- and posttest. The results showed a statistically significant difference between

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Publication Date
Sat Apr 20 2024
Journal Name
Baghdad Science Journal
Synthesis Catalyst of Loading Nano Platinum on Graphene Nanosheets and Photodegradation of Bromophenol blue in Ultra-violet light.
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تم في هذا البحث استخدام المحفز الجديد المصنع من تحميل دقائق البلاتين النانوية على سطح الصفائح النانوية للكرافين كمحفز ضوئي واختباره لدراسة التجزئة الضوئية لملوثات المياه وازالتها بشكل نهائي من مصادر المياه لما لها من تأثير سلبي على البيئة. حيث تم استخدام صبغة البروموفينول الأزرق كمثال على أحد الملوثات. في البدء تم التأكد من تحضير المحفز بالطريقة المستخدمة في طريقة العمل من خلال تشخيصه باستخدام عدد من ا

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Publication Date
Sun Sep 01 2013
Journal Name
Baghdad Science Journal
Synthesis and characterization of some heterocyclic including oxazoles,Thiazoles, Pyridazines, phthalizines and Pyrazoles with evaluating of biological activity.
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A series of new compounds including p-bromo methyl pheno acetate [2]. N-( aminocarbonyl)–p-bromo pheno acetamide [3] , N-( aminothioyl) -p-bromo phenoacetyl amide [4], N-[4-(p-di phenyl)-1,3-oxazol-2-yl]-p-bromopheno acetamide [5],N-[4-p-di phenyl]-1,3-thiazol-2-yl-p-bromo phenoacet amide [6], p-bromopheno acetic acid hydrazide [7] , 1-N-(p-bromo pheno acetyl)-1,2-dihydro-pyridazin-3,6- dione [8], 1-N-(p-bromo pheno acetyl)-1,2-dihydro-phthalazin-3,8- dione[ 9], 1-(p-bromo pheno acetyl)-3-methylpyrazol-5-one [10] and 1-(p-bromo phenol acetyl)- 3,5-dimethyl pyrazole [11] have been synthesized. The prepared compounds were characterized by m.p.,FT-IR and 1H-NMR spectroscopy. Also ,the biological activity was evaluated .

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Publication Date
Wed Dec 30 2020
Journal Name
Journal Of Accounting And Financial Studies ( Jafs )
The impact of voluntary corporate disclosure on tax planning: The impact of voluntary corporate disclosure on tax planning
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The attention of civil society organizations, governments and international non-governmental organizations in recent years has focused on the acute practices adopted by companies with the aim of reducing the tax burden, and the results of these practices have a negative impact on the tax revenues that the state uses to finance public needsThe aim of the research is to measure the impact of the voluntary disclosure of companies on tax planning for the period from 2011 to 2015 and the research community is in the General Tax Authority. The research sample is 6 companies within the private sector in the financial, banking, insurance and industrial fields. The research was based on a special model to measure the optional disclosure,

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Publication Date
Tue Mar 15 2016
Journal Name
International Journal Of Pharmacy And Pharmaceutical Sciences
SYNTHESIS, CHARACTERIZATION AND PRELIMINARY ANTIMICROBIAL EVALUATION OF NEW SCHIFF BASES OF AMPICILLIN AND AMOXICILLIN DERIVED FROM ISATIN DERIVATIVES
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Objectives: Six different Schiff bases were synthesized from ampicillin and amoxicillin with isatin, 5-bromoisatin, and 5-nitroisatin. Methods: Ampicillin and Amoxicillin are linked directly through their α-amino groups to the acyl side chain with isatin and isatin derivatives by nucleophilic addition using glacial acetic acid as a catalyst. Results: chemical structures of these Schiff bases were confirmed using FTIR, 1H NMR and elemental microanalysis. The antibacterial activity was evaluated by measuring minimum inhibitory concentration (MIC) values and showed various degrees of antibacterial activities when compared with parent drugs. Compounds 1a and 2b, which are the Schiff bases of ampicillin and amoxicillin with isatin, showed very

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Publication Date
Mon Dec 30 2024
Journal Name
Iraqi Journal Of Chemical And Petroleum Engineering
Investigating the effects of ultrasonic waves and nanosilica on the viscosity reduction of Sharqy Baghdad heavy crude oil
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The current study examines the combined impacts of ultrasonic waves and nano silica (NS) on reducing the viscosity Sharqy Baghdad heavy crude oil with an API gravity of 20.32. NS of an average particle size of 59.93 nm and 563.23 m²/g surface area were produced utilizing the sol-gel technique from Iraqi sand. The XRD analysis indicates the existence of an amorphous silica, the SEM analysis showed that NS tends to agglomerate, and the FTIR spectra exhibited the presence of siloxane and silanol groups. In addition, the TGA analysis demonstrated a total weight loss of 15.62%, validating the thermal stability of the NS. The experiments included a study of the impact of ultrasonic power, exposure time, duty cycle, temperature, and the c

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Publication Date
Wed Nov 24 2021
Journal Name
International Journal Of Differential Equations
The Impact of Media Coverage and Curfew on the Outbreak of Coronavirus Disease 2019 Model: Stability and Bifurcation
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In this study, the spreading of the pandemic coronavirus disease (COVID-19) is formulated mathematically. The objective of this study is to stop or slow the spread of COVID-19. In fact, to stop the spread of COVID-19, the vaccine of the disease is needed. However, in the absence of the vaccine, people must have to obey curfew and social distancing and follow the media alert coverage rule. In order to maintain these alternative factors, we must obey the modeling rule. Therefore, the impact of curfew, media alert coverage, and social distance between the individuals on the outbreak of disease is considered. Five ordinary differential equations of the first-order are used to represent the model. The solution properties of the system ar

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