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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 Dec 01 2022
Journal Name
Baghdad Science Journal
The Effect of Tharthar-Tigris Canal on the Environmental Properties of the Tigris River Northern Baghdad, Iraq
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The present study is considered the first on this sector of the Tigris River after 2003. It is designed for two aims, the first is to demonstrate the seasonal variations in physicochemical parameters of Tharthar-Tigris Canal and Tigris River; the second is to explain the possible effects of canal on some environmental properties in the Tigris River. Water samples were being collected monthly. Six sampling sites were selected, two on Tharthar Canal and four along the Tigris River, one before the confluence as a control site and the others downstream the confluence with the canal. For a period from January to December 2020, nineteen physicochemical parameters were investigated including air and water temperature, turbidity, electrical cond

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Publication Date
Wed May 15 2019
Journal Name
Al-khwarizmi Engineering Journal
Rheological and Thermal Properties of Lubricating Oil Enhanced by the Effect of CuO and TiO2 Nano-Additives
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The specifications of lubricating oil are fundamentally the final product of materials that have been added for producing the desired properties. In this research, spherical nanoparticles copper oxide (CuO) and titanium oxides (TiO2) are added to SAE 15W40 engine oil to study the thermal conductivity, stability, viscosity of nano-lubricants, which are prepared at different concentrations of 0.1%, 0.2%, 0.5%, and 1% by weight, and also their pour point, and flash point as five quality parameters. The obtained results show that CuO nanoparticles in all cases, give the best functionality and effect on engine oil with respect to TiO2. With 0.1 wt. % concentration, the thermal conductivity of CuO/oil and TiO2/

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Publication Date
Thu Nov 18 2021
Journal Name
Healthcare
Effect of Practice Environment on Nurse Reported Quality and Patient Safety: The Mediation Role of Person-Centeredness
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This study aims to explore the potential mediation role of person-centeredness between the effects of the work environment and nurse reported quality and patient safety. A quantitative cross-sectional survey collected data from 1055 nurses, working in medical and surgical units, in twelve Malaysian private hospitals. The data collection used structured questionnaires. The Hayes macro explored the mediation effect of person-centeredness between the associations of work environment dimensions and care outcomes, controlling nurses’ demographics and practice characteristics. A total of 652 nurses responded completely to the survey (61.8% response rate). About 47.7% of nurses worked 7-h shifts, and 37.0% were assigned more than 15 pati

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Publication Date
Fri Nov 08 2019
Journal Name
Biochem. Cell. Arch.
EFFECT OF EARLY EXPOSURE TO HEAT AND ADDITION OF GINSENG EXTRACT ON PRODUCTION TRAITS IN BROILER CHICKS
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The current study was conducted on 504(Ros-308) broiler chicks during the period 28/9/2017-9/11/2018to determine the effect of heat shock in early age and additives such as ginseng in three levels on birds weight and feedconsumption. Results showed that the exposure to high temperature (38-400C) lead to significant decrease (p≤≤≤≤≤0.05 (inaverage body weight at7 day of age and significant decrease in body weight in birds expousured to high temperature inthe periods 2, 4 and 6 hours compared with control (Table 1). Significant decrease in live body weight when exposure to2hr compared with 6hr namely (138.54) and (144.21), respectively while no significant difference between 2 and 4h.Results showed no significant effect in body we

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Publication Date
Sun Dec 30 2018
Journal Name
Journal Of Engineering
Knowledge-Based Urban Development The Impact of Knowledge- Based Urban Development in the Growth of Contemporary Cities
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Urban Development refers to many topics such as: increased population density, city size, and individual’s production, distribution of technology and the growth of commercial, industrial and service professions. Such development is linked to the coordination of social and cultural trends in order to achieve social progress and economical prosperity. Knowledge as a topic now is known as intellectual capital wich led to upgrae the concept of urban development to be extended into many fields of knowledge, for example, cultural, social and human development to move the level of community culture into a new better standard.

The research adopted the urban transformation based on knowledge as an important factor in gr

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Publication Date
Thu Jun 30 2022
Journal Name
Journal Of Economics And Administrative Sciences
Estimation of Time of Survival Rate by Using Clayton Function for the Exponential Distribution with Practical Application
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Each phenomenon contains several variables. Studying these variables, we find mathematical formula to get the joint distribution and the copula that are a useful and good tool to find the amount of correlation, where the survival function was used to measure the relationship of age with the level of cretonne in the remaining blood of the person. The Spss program was also used to extract the influencing variables from a group of variables using factor analysis and then using the Clayton copula function that is used to find the shared binary distributions using multivariate distributions, where the bivariate distribution was calculated, and then the survival function value was calculated for a sample size (50) drawn from Yarmouk Ho

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Publication Date
Tue Jan 01 2019
Journal Name
Biochem. Cell. Arch.
Effect of essential oil extracted from the peels of Citrus paradisi and Citrus sinensis on some fungi
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This study examined the effect of essential oils extracted from peel of Citrus paradisi and Citrus sinensis on two species of fungi: Penicillium oxalicum and Fusarium oxysporum as well as effect of two fungicides: Carbendazim and Thiophanatemethyl against above fungi. Results showed that the essential oil of Citrus paradisi inhibited the radial growth of Penicillium oxalicum and Fusarium oxysporum at concentration 4%. Nevertheless, the essential oil of Citrus sinensis inhibited the radial growth at concentration 5 and 4%, respectively. Furthermore, the two studied fungicides inhibited radial growth of these fungi too. Therefore, there are a positive relationship between the evaluating of concentration and the percentage of inhibiting of rad

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Scopus
Publication Date
Thu May 15 2025
Journal Name
Iium Engineering Journal
Natural Bitumen in Hot Asphalt Mixture: Suitability of Using Treated Natural Bitumen Instead of Petroleum Asphalt Binder
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In recent years, the search for economic and environmentally friendly alternatives has become a global necessity to achieve sustainability and preserve raw materials. From this concept, natural bitumen (NB) derived from sulphur springs is now one of the most promising alternative energy resources for many applications, especially in asphalt pavement construction. Its low price and abundance characterise NB since sulphur springs produce thousands of tonnes of NB annually and are used in very limited fields. Two main objectives were adopted for this work. The first objective is to examine the virgin NB properties from five sulphur springs and compare them with petroleum asphalt. The second objective is to enhance NB properties by appl

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Publication Date
Sat Jul 01 2017
Journal Name
Al–bahith Al–a'alami
The Digital Presence of Algerian Females via Virtual Satellite Channels: Analytical Study of Women Issues through Facebook
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The platforms of social networking sites, with their distinctive communication and technological features, create a social movement that led to the establishment of a new pattern of communication in a modern context. This allows the users on the internet to carry out many social interactions based on the interests and commonalities among them. Algerian women have a share of this digital presence by representing their views and discussing their issues on several sites like Facebook, for example.
In this research, we have analyzed the pages of Algerian women on Facebook site to find out the most important issues addressed by Algerian women so that we can organize their concerns in the digital channels and discover their different orie

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Publication Date
Wed Nov 01 2017
Journal Name
Journal Of Engineering
Calculating Production Rate of each Branch of a Multilateral Well Using Multi-Segment Well Model: Field Example
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Multilateral wells require a sophisticated type of well model to be applied in reservoir simulators to represent them. The model must be able to determine the flow rate of each fluid and the pressure throughout the well. The production rate calculations are very important because they give an indication about some main issues associated with multi-lateral wells such as one branch may produce water or gas before others, no production rate from one branch, and selecting the best location of a new branch for development process easily.                                &nbsp

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