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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
Sun Jun 09 2019
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Possible Amelioration of the Severity of Nutritional Steatohepatitis by Guggulsterone in Mice: guggulsterone and steatohepatitis in mice
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Non-alcoholic fatty liver disease (NAFLD) has become one of the most common chronic liver diseases worldwide, which characterized by steatosis, inflammation, and fibrosis. The aim of this designed study is to evaluate the ability of guggulsterone to prevent high fat diet induced steatohepatitis in mice. Five groups of male mice were selected and treated as the following: group I, mice had free access to standard commercial diet and considered as control group, group II, mice were fed a specially formulated high-fat diet for 12 weeks to induce non-alcoholic liver disease, while groups III, IV and V the mice were administered high fat diet containing guggulsterone at 500, 1000 and 2000 ppm concentration respectively for 12 weeks. Maintaini

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Publication Date
Wed Oct 07 2020
Journal Name
Indian Journal Of Forensic Medicine &amp; Toxicology
The Synergistic Effect of Combining Some Antibiotics with Powder of Silver NPs, Copper NPs and Titanium NPs
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Publication Date
Mon Oct 01 2018
Journal Name
Journal Of Economics And Administrative Sciences
Scenarios for investment of proposed marshes and requirements for success:a case study in the Marshlands of maysan
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  The research aims to presenting a number of scenarios for the investment of the marshes. The problem of research problem was that there is no in-depth analysis of the marshes  environment. The traditional methods of  the environmental analysis are insufficient. The research community is represented by the decision makers in Maysan Governorate. The research led to proposing of three scenarios with statement  the requirements for the success of each one. The most important conclusions are that the three proposed scenarios for marshes investment depend on the availability of the required volunteers for each scenario. The higher the availability of the requirements, the more optimistic the scenario becomes. If t

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Publication Date
Thu Dec 01 2022
Journal Name
Baghdad Science Journal
Assessment of Groundwater Drinking Sources in Eku and Its Environs, in the Niger-Delta Region of Nigeria
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This study assessed the quality of hand-dug drinking water sources in Eku and its environs at Eku I, Samagidi, Eku 2, and Okuechi, using the weighted arithmetic water quality index method. Water samples collected from hand-dug wells at these locations returned values for analyzed parameters. Temperature 26 – 30(⁰C), dissolved Oxygen (D.O) 5.2-8mg/l, biological oxygen demand (BOD) 5.2-8(mg/l), Electrical Conductivity (EC) 77-119(µS/cm), Total suspended solids were  (TSS) 20000-120000(mg/l), pH 5.31-7.09, Phosphates 2-9.2(mg/l), Alkalinity 28-160(mg/l), Turbidity, 0.02 -0.19(NTU) Total coliform 2 -48 (cfu/ml) and fungal count 1-502. Variations in the values of these parameters were only significant for phosphate, alkalinity, and turb

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Publication Date
Sat Jul 18 2020
Journal Name
College Of Islamic Sciences
Methodology of Bible Criticism of Muslim Scholars in South Africa Ali Safraz Khan Gumal as a sample
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This paper and research paper analyzes the critical methodology of "Ali Khan Joommal “ about the Bible , directed in most of the textual criticism of the Torah, and its highest criticism is directed to both the Old and New Testaments.

Joommal  was distinguished by the mental methods and examples accompanying his era, while maintaining the general context in which Muslim scholars had previously followed, and he was distinguished from them by his many citations to the Western literature of Jews or Christians, in short it is a critical phenomenon worthy of study and evaluation.

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Publication Date
Sun Dec 31 2023
Journal Name
Iraqi Journal Of Pharmaceutical Sciences( P-issn 1683 - 3597 E-issn 2521 - 3512)
Evaluation of The Genoprotective Effect of Curcumin Against Methotrexate in Bone Marrow and Spleen Cells in Mice
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Curcumin is a yellow pigment produced from the rhizomes of the Curcuma longa plant and a primary chemo preventive component of turmeric is used as a spice and food coloring ingredient. Curcumin has a large number of pharmacological activities, such as anticancer, anti-diabetic, antioxidant, anti-infectious, and anti-inflammatory properties.Investigation of the geno-protective effect of curcumin on methotrexate induces chromosomal aberrations of spleen and bone marrow cells. In this study, 32 mice were used and divided into four groups (eight mice at each group) as follows: Group1 (negative control): Dimethyl sulfoxide was given intraperitoneally to mice every day for ten days.Group2 (positive control): Mice were received a single do

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Publication Date
Fri Dec 15 2023
Journal Name
Iraqi Journal Of Laser
The Effect of Dual Diode Laser: (810,980) nm in Acceleration of Orthodontic Tooth Movement A Case Report
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Patients are very concerned about the lengthy nature of orthodontic treatment. It is necessary to find a non-invasive way to quicken physiologic tooth movement. This study's objective was to assess the effectiveness of low-intensity laser therapy in shortening the time and discomfort of orthodontic treatment. Experimental work: Using a split-mouth study to compare tooth movement with conventional treatment and laser-accelerated orthodontic tooth movement. A patient presenting with a class II division I malocclusion characterized by the misalignment of the upper and lower teeth as classified by Angle’s molar classification system was indicated to undergo fixed orthodontic appliance orthodontic treatment. The treatment plan involved bila

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Publication Date
Tue Nov 01 2022
Journal Name
Iraqi Journal Of Agricultural Research
EFFECT OF ADDING DIFFERENT LEVELS OF Ganoderma lucidum TO BROILER DIETS ON MICROBIAL TRAITS AND IMMUNOLOGICAL TRAITS
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This study was conducted in the poultry field of the College of Agricultural Engineering Sciences / University of Baghdad for the period from 10/15/2021 to 11/25/2021 in order to show the effect of adding different levels of Ganoderma lucidum to broiler diets on microbial and immunological In it, 200 unsexed (Ross 308) chicks of one day old breed were used, with a starting weight of (40) g. The chicks were distributed and randomly divided into four treatments with 50 birds for each treatment. One treatment included five replicates (10 birds/repeat) and the experiment treatments were T1, T2, and T3, T4 and the percentages of adding reishi mushrooms 0, 0.5, 1, 1.5 g/kg of feed respectively, and the birds were fed for the duration of the exper

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Publication Date
Thu Oct 03 2019
Journal Name
Mesopotamia Journal Of Agriculture
EFFECT OF ADDING DIFFERENT LEVELS OF OLEUROPEIN TO BROILERS DIETS ON PRODUCTION PERFORMANCE AND SOME PHYSIOLOGICAL TRAITS
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This study has been carried out in the Station of Poultry Researches which is affiliated to the General Office of Agricultural Researches / Ministry of Agriculture during the period from 25/02/2019 to 08/04/2019 (42)days .Five hundred unsexed one day old chick of type (Ross 308) used in this study, and has been fed on diets which oleuropeinin has been added to it with the levels 2,2.5,3 and3.5 g/kg as a feed for the treatments T2 , T3 , T4 and T5 respectively and compared to the control treatment T1 which is devoid of addition, every treatment included Four replicates each one has 25 birds in order to study the effect of adding a various levels of oleuropein into the diet on the production and physiological performance for broilers. The res

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Publication Date
Tue Sep 07 2021
Journal Name
Nanomaterials
Transformation of Silver Nanoparticles (AgNPs) during Lime Treatment of Wastewater Sludge and Their Impact on Soil Bacteria
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This study investigated the impact of lime stabilization on the fate and transformation of AgNPs. It also evaluated the changes in the population and diversity of the five most relevant bacterial phyla in soil after applying lime-stabilized sludge containing AgNPs. The study was performed by spiking an environmentally relevant concentration of AgNPs (2 mg AgNPs/g TS) in sludge, applying lime stabilization to increase pH to above 12 for two hours, and applying lime-treated sludge to soil samples. Transmission electron microscopy (TEM) and energy-dispersive X-ray spectroscopy (EDS) were used to investigate the morphological and compositional changes of AgNPs during lime stabilization. After the application of lime stabilized sludge to

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