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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 Feb 02 2021
Journal Name
Journal Of Engineering Science And Technology
INVESTIGATING THE EFFECT OF INLET APERTURE AND BAFFLE POSITION IN IMPROVING THE EFFICIENCY OF PRIMARY SETTLING TANKS
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Publication Date
Sun Sep 04 2011
Journal Name
Baghdad Science Journal
The Prediction of the Electromagnetic Properties and the ?(E2/M1) of 110-116Cd-Isotopes in IBM Model
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The Nuclear structure of 110-116Cd isotopes was studied theoretically in the framework of the interacting boson model of IBM-l and IBM-2. The properties of the lowest mixed symmetry states such as the 1+, 2+ and 3+ levels produced by the IBM-2 model in the vibrational-limit U(5) of Cd - isotopes are studied in details. This analysis shows that the character of mixed symmetry of 2+ is shared between and states in 110-114Cd – isotopes, the large shar goes to s, while in isotope, the state is declared as a mixed symmetry state without sharing. This identification is confirmed by the percentage of F-spin contribution. The electromagnetic properties of E2 and Ml operators were investigated and the results were analyzed. Various

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Publication Date
Sat Aug 23 2025
Journal Name
Journal Of Baghdad College Of Dentistry
The Effects of Different Investment Materials on Dimensional Accuracy and Surface Roughness of Thermosens Maxillary Complete Dentures
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Background: Limited data are available on the dimensional stability and surface roughness of ThermoSens, which is a material used in denture processing. This study aimed to measure the vertical teeth changes and surface roughness of ThermoSens dentures prepared using three different investment materials. Materials and methods: For the dimensional changes test, 30 complete maxillary dentures were prepared using different investment methods: group I, dental stone; group II, silicone putty; and group III, a mixture of dental stone and plaster (ratio, 1:1; n = 10 for each group). Four screws were attached to the dentures: two were attached to the buccal surface of the canine and first molar, and the other two were attached in the flange areas o

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Publication Date
Sat Jul 01 2023
Journal Name
Journal Of Accounting And Financial Studies ( Jafs )
The role of e-learning standards in auditing in auditing the performance of customer capita: applied research
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                  In light of the corona pandemic, educational institutions have moved to learning and teaching via the Internet and e-learning ,and this is considered a turning  point in course of higher education in Iraq in particular and education in general, which generated a great challenge for educational institutions to achieve the highest possible levels in practices and processes to reach the highest quality of their outputs from graduate students to the labor market that auditing performance by adopting e-learning standards is one of the effective tools that help the management of educational institutions by providing information on the ex

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Publication Date
Tue Jun 20 2023
Journal Name
Bulletin Of The Iraq Natural History Museum
REVISION OF THE GENUS XYLOCOPA LATREILLE, 1802 (HYMENOPTERA, APIDAE) WITH A NEW RECORD OF SPECIES IN IRAQ
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In this study, the genus Xylocopa Latreille, 1802 (Hymenoptera: Apidae) was revised. There were 4 species registered in our investigations: X. hottentotta Smith, 1854; X. olivieri Lepeletier, 1841; X. pubescens Spinola, 1838 and X. valga Gerstäcker, 1872, the first species was described as being found for the first time for the insect fauna of Iraq, which were obtained from Solanum melogena L. flowers. Key to the species was constructed and supported by figures of the main diagnostic characters and some morphological features, illustrated and compared with other species, which are recorded in the current survey.

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Publication Date
Wed Dec 01 2010
Journal Name
Bulletin Of The Iraq Natural History Museum (p-issn: 1017-8678 , E-issn: 2311-9799)
FIRST RECORD OF FIVE NEMATODE SPECIES IN SOME WATER BIRDS FROM AL-HAMMAR MARSH, SOUTH OF IRAQ
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Parasitological investigation of piscivorous birds in Al-Hammar marsh south of Iraq during December-February 2004 and December 2005 were revealed that water birds infected with five nematode species, which belong to three different superfamilies, Desmidocercella numidica (Seurat, 1920) (Superfamily: Aproctoidea) from three piscivorous birds including Grey heron Ardea cinerea, Bittern Botaurusstellaris, and small white heron Ardeola ralloides; Avioserpens sp. 1 and Avioserpens sp. 2 (Superfamily: Dracunculoidea) from small bittern Ixobrychus minutus and black glossy ibis Plegadisfalcinellus respectively; Baruscapillaria sp. and Baruscapillarinae gen. sp. (Sup

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Publication Date
Wed Jan 02 2019
Journal Name
Journal Of The College Of Languages (jcl)
Conflict of characters in the works of Jacob Steinberg story: סכסוך הדמויות ביצירותיו הסיפוריות של יעקב שטיינברג
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A character is one of the most important pillars of narrative production. Most critics believe that a character is the focus of events.

   Jacob Steinberg, a Jewish writer who is Ukrainian by origin, wrote many stories, most of which spoke about the lives of Jews in the diaspora, especially in Ukraine. The environment there has been reflected in his stories.

    Steinberg focused on the role of characters in shaping these productions.

   In this study, we discuss the conflict of characters in Steinberg's stories. This conflict is characterized by different trends and goals. There is a conflict with the environment, a conflict with society, a conflict with the self,

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Publication Date
Mon Mar 08 2021
Journal Name
Baghdad Science Journal
Cholera disease in iraq and the invetigation of some virulence of vibrio locally isolated from diarrhea case
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A survey statistician for cholera in Iraq for 1980 and until 2003 show that cholera is endemic in Iraq and that the highest number of casualties recorded in the years 1998-1999 and increasing spread of the disease during the wars in hot climates, wet a study bacteriological used where circles selective and tests Alkouhaoah examinations serological system

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Publication Date
Mon Aug 01 2022
Journal Name
Optik
Assessing the optoelectronic performance of d-orbital doped cubic HfO2: The case of W, Nb, and Mo
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This contribution provides an atomistic understanding into the impact of W, Nb, and Mo co-substitution at Hf-site of cubic HfO2 lattice to produce Hf1−xTMxO2 system at x = 25%. The calculations have been performed under the framework of density functional theory supported by Habbured parameter (DFT+U). Structural analysis demonstrates that the recorded lattice constants is in good coherence with the previously published results. For the lattice parameters, contraction by 1.33% comparing with the host system has been reported. Furthermore, the doping effect of TM on the band gap leads to its reduction in the resulting Hf0.75TM0.25O2 configurations. The partial density of states (PDOS) indicate that hybridization through localized electroni

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Publication Date
Tue Jun 15 2021
Journal Name
Al-academy
American Folk Art in Light of the Concept of the Social Imagination (Analytical Study): اسعد يوسف الصغير
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The current research is summarized by studying and understanding the imagination and what resulted from it in postmodern arts, specifically Pop Art. The research was focused spatially (America) between the year 1950-1975 AD and it defined the research problem by asking about what factors and variables that established the social imagination in culture Al-Gharbia, which in turn crystallized the Western cultural product to appear in its form, which is historically called "pop art". Two studies were adopted in the second chapter. The first one was the cultural structure of the social imagination. The second topic was concerned with the stylistic diversity of pop art, and the third chapter included research and accreditation procedures. Ther

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