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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
Wed Mar 01 2023
Journal Name
Journal Of Molecular Structure
Synthesis, structural investigations, XRD, DFT, anticancer and molecular docking study of a series of thiazole based Schiff base metal complexes
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A novel Schiff base (SB) ligand, abbreviated as HDMPM, resulted from the condensation of 2-amino-4-phenyl-5-methyl thiazole and 4-(diethylamino)salicyaldehyde, and its metal complexes with [Co(II), Cu(II), Ni(II), and Zn(II)] ions in high yield were formed. The physico-chemical techniques such as elemental analysis, molar conductance, IR, 1H and 13C NMR, mass spectroscopy, and electronic absorption studies were utilized to characterize the synthesized compounds. The studied compounds were examined for their possible anticancer activity against a number of human cancerous cell lines, including A549 lung carcinoma, HepG2 liver cancer, HCT116 colorectal cancer, and MCF-7 breast cancer cell lines, with doxorubicin serving as the standard. The s

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Publication Date
Sun Dec 10 2023
Journal Name
Al-rafidain Journal Of Medical Sciences ( Issn 2789-3219 )
Detection of Multiple Sclerosis Lesions in Supra- and Infra-Tentorial Anatomical Regions by Double Inversion Recovery, Flair, and T2 MRI Sequences: A Comparative Study in Iraqi Patients
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Background: In young adults, multiple sclerosis is a prevalent chronic inflammatory demyelinating condition. It is characterized by white matter affection, but many individuals also have significant gray matter involvement. A double-inversion recovery pulse (DIR) pattern was recently proposed to improve the visibility of multiple sclerosis lesions. Objective: To find out how well a DIR sequence, FLAIR, and T2-weighted pulse sequences can find MS lesions in the supratentorial and infratentorial regions. Methods: A total of 37 patients with established diagnoses of multiple sclerosis were included in this cross-sectional study. Brain MRI was done using double inversion recovery, T2, and FLAIR sequences. The number of lesions was count

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Publication Date
Wed Aug 29 2018
Journal Name
Journal Of Engineering
Exergy Analysis of a Domestic Refrigerator
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An energy and exergy thermodynamic analysis using EES program was done for a domestic refrigerator working with R-134a using vapor compression refrigeration cycle. The analysis deals with the system component, i.e. compressor, condenser, evaporator and the expansion device. The analysis depends on the entropy generation minimization approach to improve the refrigerator performance by exploring the optimum design points. These design points were derived from three different theories governing the entropy generation minimization using exergy analyzing method. These theories were first applied to find the optimum balance between the hot inner condenser area and the cold inner evaporator area of the refrigerator and between

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Publication Date
Mon Oct 06 2025
Journal Name
Journal Of Baghdad College Of Dentistry
CBCT analysis of impacted maxillary canines
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Background: This study designed to shade light on the important role of CBCT in accurate localization of the impacted maxillary canines. Materials and method: Fifty two unilateral and bilateral impacted maxillary canines from 30 patients (24 females and 6 males) were evaluated by a volumetric 3D images obtained from cone beam CT. All samples attended to the specialist health center of dentistry in Al-Sadder City referred to CBCT by oral surgeons or orthodontists to detect the exact position of impacted upper canine in cases when there was no bulging buccally or palatally which aids to detect the exact position. Results: Mesio-palatal angulations had the highest rate (63.5%) followed by mesio-labial (19.2%), vertical (labial) (9.6%), disto-p

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Publication Date
Wed Dec 27 2017
Journal Name
Al-khwarizmi Engineering Journal
Stress Analysis of the Hip Bone
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The bony pelvis has a major role in weight transmission to the lower limbs. The complexities of its geometric form, material properties, and loading conditions render it an open subject to biomechanical analysis.

 The present study deals with area measurement, and three-dimensional finite element analysis of the hip bone to investigate magnitudes, load direction, and stress distribution under physiological loading conditions.

 The surface areas of the auricular surface, lunate surface, and symphysis pubis were measured in (35) adult hip bones. A solid model was translated into ANSYS parametric design language to be analyzed by finite element analysis method under different loading conditions.

The surface

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Publication Date
Thu Mar 01 2018
Journal Name
Journal Of Engineering
Analysis of Double Skin Composite Slabs
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This paper deals with finite element modeling of the ultimate load behavior of double skin composite (DSC) slabs. In a DSC slab, shear connectors in the form of nut bolt technique studs are used to transfer shear between the outer skin made of steel plates and the concrete core. The current study is based on finite element analysis using ANSYS Version 11 APDL release computer program. Experimental programmes were carried out by the others, two simply supported DSC beams were tested until failure under a concentrated load applied at the center. These test specimens were analyzed by the finite element method and the analyses have shown that these slabs displayed a high degree of flexural characteristics, ultimate strength,

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Publication Date
Tue Oct 10 2023
Journal Name
Journal Of Craniofacial Surgery
CBCT Analysis of Oropharynx Airway Volume
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Objective:

The study was performed to analyze the oropharynx airway and examine the influence of age and gender on the oropharynx volume configuration using cone beam computed tomography.

Materials and Methods:

This study examined the cone beam computed tomographic images of 51 patients 25 male and 26 females, group matched for age and gender. The oropharynx airway volume and area between the posterior nasal spine and top of the epiglottis were measured and compared.

Results:
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Publication Date
Mon Feb 25 2019
Journal Name
Iraqi Journal Of Physics
Photometric analysis of eclipsing binary stars
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In this paper, photometric analysis of two short period group of the eclipsing binaries (RS CVn); RT And and BH Vir is presented. New physical and geometric parameters were obtained by performing two computer modeling. The first model is software package PHOEBE based on the Wilson–Devinney method, and the second is Binary Maker 3 (BM3).Our results are in good agreement with those obtained using the same modeling.

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Publication Date
Sat Jan 01 2011
Journal Name
Journal Of Engineering
ANALYSIS OF GEOTEXTILE EMBANKMENT BY ANSYS
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The major objectives of this research are to analyze the behavior of road embankments
reinforced with geotextiles constructed on soft soil and describe the finite element analysis by using
ANSYS program ver. (5.4). The ANSYS finite element program helps in analyzing the stability of
geo- structure (embankment) in varied application of geotextiles reinforcement to enhance the best
design for embankment.
The results of analysis indicate that one of the primary function of geotextiles reinforcement was to
reduce the horizontal displacement significantly. With the inclusions of reinforcement, the horizontal
displacement reduced by about (81%), while the vertical displacement reduced by (32%). The effect
of geotextiles

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Publication Date
Thu Aug 31 2017
Journal Name
Journal Of Engineering
Finite Element Analysis of UHPC Corbels
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   Finite element method is the most widely numerical technique used in engineering field. Through the study of behavior of concrete material properties, various concrete constitutive laws  and failure criteria have been developed to model the behavior of concrete. A feature of the Finite Element program (ATENA) is used in this study to model the behavior of UHPC corbel under concentrated load only. The Finite Element (FE) model is followed by verification against experimental results. Some variable effects on the shear capacity of the UHPC corbels are also demonstrated in a parametric study. A proposed design equation of shear strength of UHPC corbel was presented and checked with numerical results.
 

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