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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
Tue Jan 01 2019
Journal Name
Journal Of International Dental And Medical Research
The effects of progesterone administration in mice during pregnancy on ovarian development and anogenital distance of the offspring
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Progesterone is highly used in pregnant women as therapeutic agent to maintain and support pregnancy. To explore the effects of progesterone usage allover gestation till 7days postnatally on mice offspring ovaries development and anogenital distance. Ten pregnant mice were equally divide into control group that was injected with sesame oil which is used as a solvent for progesterone and treated group that is daily intraperitoneally injected with progesterone (dissolved in sesame oil 1: 10) at dose 10.2 mg/kg (the equivalent human dose) all through gestation till7day postnatal then sacrificed and measuring the anogenital distance (the distance between anus and genital papilla). Histological slides were prepared, and Diameters of the ovary, p

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Publication Date
Wed Jun 15 2022
Journal Name
Malaysian Journal Of Science
STUDY THE RELATIONSHIP BETWEEN BREMSSTRAHLUNG DOSE RATE AND THE ENERGY OF BETA RAY FOR DIFFERENT TYPES OF SHIELD
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The dose rate for bremsstrahlung radiation from beta particles with energy (1.710) MeV and (2.28) MeV which comes from (32P and 90Y) beta source respectively have been calculated through six materials (polyethylene, wood, aluminum, iron, tungsten and lead) for first shielding material with thickness (x=1) mm which are putting between beta sources and second shield (polyethylene, aluminum and lead) with thickness (1, 2 &4) mm have been calculated. The distance between beta source and second shield is constant (D=1) cm. This dose rate was found by program called Rad Pro Calculator (version 3.26). The results of dose rate of beta particles were plotted as a function to the atomic number (Z) for first shield materials for each

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Publication Date
Thu Sep 14 2023
Journal Name
Al-khwarizmi Engineering Journal
Applying Scikit-learn of Machine Learning to Predict Consumed Energy in Al-Khwarizmi College of Engineering, Baghdad, Iraq
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Globally, buildings use about 40% of energy. Many elements, such as the physical properties of the structure, the efficiency of the cooling and heating systems, the activity of the occupants, and the building’s sustainability, affect the energy consumption of a building. It is really difficult to predict how much energy a building will need. To improve the building’s sustainability and create sustainable energy sources to reduce carbon dioxide emissions from fossil fuel combustion, estimating the building's energy use is necessary. This paper explains the energy consumed in the lecture building of the Al-Khwarizmi College of Engineering, University of Baghdad (UOB), Baghdad, Iraq. The weather data and the building construction informati

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Publication Date
Thu Sep 27 2018
Journal Name
Journal Of The College Of Education For Women
Some urban structures of the city of Baghdad in the book almntadham Ibn al-Jawzi (d. 597 e)
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 We conclude that this study has dealt with an important aspect of the book that was not clearly defined in the book as it was derived through the book's translations, namely, the extraction of those urban structures of the city of Baghdad, which were of great importance in the religious, cultural, economic and social life at that time, The important link that reflected the development of the Islamic city in general and Baghdad in particular, as he addressed such urban facilities through the translations of the book that did not offer the outline or information about those facilities, but only the name only, and here lies the difficulty in addressing Such as T. As subjects because they need the most accurate analysis of facilities t

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Publication Date
Sat Jan 09 2021
Journal Name
Review Of International Geographical Education
E-Learning Applications According To The Levels Of STEM Literacy For Teachers Of Physics At The Secondary Stage
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E-learning applications according to the levels of enlightenment (STEM Literacy) for physics teachers in the secondary stage. The sample consists of (400) teachers, at a rate of (200) males (50%), and (200)females (50%), distributed over (6) directorates of education in Baghdad governorate on both sides of Rusafa and Karkh. To verify the research goals, the researcher built a scale of e-learning applications according to the levels of STEM Literacy, which consists of (50) items distributed over (5) levels. The face validity of the scale and its stability were verified by extracting the stability coefficient through the internal consistency method “Alf-Cronbach”. The following statistical means were used: Pearson correlation coefficient,

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Publication Date
Sun Sep 21 2025
Journal Name
Iraq Journal Of Agricultural Research
EFFECT OF STORAGE TEMPERATURE , PICKING TYPE AND PLANT EXTRACTS ON STORAGE FRUITS OF LOCAL ORANGE CITRUS SINENSIS . l
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Publication Date
Wed Sep 12 2012
Journal Name
Al- Taqani
EFFECT OF POTASSIUM FERTILIZERS APPLICATION ON GROWTH, YIELD AND WATER USE EFFICIENCY OF POTATO UNDER REGULATED IRRIGATION TREATMENTS
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Publication Date
Fri Dec 31 2021
Journal Name
Political Sciences Journal
Alternative Perspectives in Explaining the Conduct of US Foreign Policy: A Historical-Critical View of Decision-Making Models
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Receipt date:2/17/2021 acceptance date:3/16/2021 Publishing date:12/31/2021

Creative Commons LicenseThis work is licensed under a Creative Commons Attribution 4.0 International License.

Objective: This paper investigates the contradictions in the decision-making process of the United States, which historically proven to be successful policies in the short term, but in the long term proven to be wanting and failure. Methodology: The paper uses descriptive, historical, comparative method. A

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Publication Date
Sat Sep 28 2024
Journal Name
Journal Of The Pakistan Medical Association
Investigating the correlation of the second derivative of digital pulse wave (DPW) with QT variability index in women
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Objective: To determine the correlation between the second derivative of digital pulse wave and the QT variability index. Method: The cross-sectional study was conducted from October 2021 to May 2022 at the Department of Physiology, College of Medicine, University of Mustansiriyah, Baghdad, Iraq, and comprised healthy women. Samples were raised by simple random technique. Digital pulse waves were captured using a fingertip pulse wave transducer. Lab Chart Pro version 7.2 was used to automatically detect and quantify the amplitude of A, B, C, D and E waves expressed by the second derivative. QT interval of each beat was recorded by electrocardiogram, and was calculated automatically via Lab chart Pro version 7.2 without averaging. D

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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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