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Molecular Analysis of CYP21A2 Gene Mutations among Iraqi Patients with Congenital Adrenal Hyperplasia
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Congenital adrenal hyperplasia is a group of autosomal recessive disorders. The most frequent one is 21-hydroxylase deficiency. Analyzing CYP21A2 gene mutations was so far not reported in Iraq. This work aims to analyze the spectrum and frequency of CYP21A2 mutations among Iraqi CAH patients. Sixty-two children were recruited from the Pediatric Endocrine Consultation Clinic, Children Welfare Teaching Hospital, Baghdad, Iraq, from September 2014 till June 2015. Their ages ranged between one day and 15 years. They presented with salt wasting, simple virilization, or pseudoprecocious puberty. Cytogenetic study was performed for cases with ambiguous genitalia. Molecular analysis of CYP21A2 gene was done using the CAH StripAssay (ViennaLab Diagnostics) for detection of 11 point mutations and >50% of large gene deletions/conversions. Mutations were found in 42 (67.7%) patients; 31 (50%) patients were homozygotes, 9 (14.5%) were heterozygotes, and 2 (3.2%) were compound heterozygotes with 3 mutations, while 20 (32.3%) patients had none of the tested mutations. The most frequently detected mutations were large gene deletions/conversions found in 12 (19.4%) patients, followed by I2Splice and Q318X in 8 (12.9%) patients each, I172N in 5 (8.1%) patients, and V281L in 4 (6.5%) patients. Del 8 bp, P453S, and R483P were each found in one (1.6%) and complex alleles were found in 2 (3.2%). Four point mutations (P30L, Cluster E6, L307 frameshift, and R356W) were not identified in any patient. In conclusion, gene deletions/conversions and 7 point mutations were recorded in varying proportions, the former being the commonest, generally similar to what was reported in regional countries.

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Publication Date
Fri Apr 04 2025
Journal Name
European Journal Of Dentistry
The Effectiveness of Conventional and Advanced Aligning Archwires: The Insights of Two Randomized Clinical Trials
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Abstract<p> Objectives This study aimed to compare the clinical effectiveness of four aligning archwires: Superelastic Nickel-Titanium (Superelastic-NiTi), SmartArch, Copper-Nickel-Titanium (Cu-NiTi), and Speed Tubular coaxial-Nickel-Titanium (Tubular coaxial-NiTi), regarding the alignment efficiency, associated perception of pain, and possibility of inducing root resorption.</p><p> Materials and Methods This study includes two randomized clinical trials run in parallel. Patients with 5 to 9 mm of mandibular anterior teeth crowding according to Little's irregularity index (LII) who needed fixed orthodontic appliances without extraction were randomly assigned to four groups of</p> ... Show More
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Publication Date
Sun Apr 03 2016
Journal Name
Al-mustansiriyah Journal Of Science
Synthesis and Characterization of Some New Metal Complexes of Ligand [N-(3-acetylphenylcarbamothioyl)-4-chlorobenzamide]
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A new ligand [N-(3-acetylphenylcarbamothioyl)-4-chlorobenzamide] (CAD) was synthesized by reaction of 4-Chlorobenzoyl isothiocyanate with 3-amino acetophenone, The ligand was characterized by elemental micro analysis C.H.N. S., FT-IR, UV-Vis and 1H,13C- NMR spectra, some transition metals complexes of this ligand were prepared and characterized by FT-IR, UV-Vis spectra, conductivity measurements, magnetic susceptibility and atomic absorption, From obtained results the molecular formula of all prepared complexes were [M(CAD)2(H2O)2]Cl2 (M+2 =Mn, Co, Ni, Cu, Zn, Cd and Hg),the proposed geometrical structure for all complexes were octahedral

Publication Date
Tue Oct 30 2001
Journal Name
3rd. Jordanian Civil Engineering Conference ,29-31 Oct.2001. 2001
The Use of the F.E.M. to Study the Performance of Stone Columns in Soft Soil
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In this paper, the penetration of the stone column was investigated in order to get the minimum length of the stone column above which the increase in length has little advantage. The effect of using different materials in column are also studied. The material used is granular of different angle of internal friction (). The results of the investigation indicated that the effect of stone column remains constant when the ratio of the thickness of the soft clay layer to the stone column’s diameter is more than 15. The results also indicated that a pronounced effect is obtained when the angle of internal friction of the stone column material is increased.

Publication Date
Fri Jan 01 2021
Journal Name
Journal Of Economics And Administrative Sciences
The effect of sensory marketing in enhancing the mental image of the customer)Applied research(
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    The research aims to study the extent of the influence of the dimensions of sensory marketing on the perceptual mental image of customers, knowing the type of relationships that link the dimensions of sensory marketing with each other, no one from the researcher mentioned (as far as the researcher knows) the link between sensory marketing and mental image, from this point of view the main goal is determined, the effect of sensory marketing on the mental image taken from customers, as the research was conducted on a number of first-class restaurants represented (Chef City, Chili House, Mado, Fried Chicken Saj Alreef) and the research community was represented by the customers of the aforementioned restaurants, a

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Publication Date
Sun Apr 03 2011
Journal Name
Journal Of Educational And Psychological Researches
The use of the husband of violence against his wife who is a kindergarten teacher
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Wives generally and working wives especially may encounter in some
families forms of physical or psychological violence through all the
levels or whether it was a psychological intimidation or cursing and
insolence and detracting her human . value and the husband marries
another woman or uses physical abuse against her and beating and
sexual abuse of the wife are also included in this from . it is noticed that
the violent attitude of the husband may take one from or it may change
and alter with time for it might lead to the increase of the possibility of
violence to occur in different ways
The importance of this study comes out from the step that on which in
folds the problem of the use of the husband of vio

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Publication Date
Tue Jan 08 2019
Journal Name
Iraqi Journal Of Physics
The effect of current density on the structures and photoluminescence of n-type porous silicon
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Porous silicon (PS) layers were formed on n-type silicon (Si) wafers using Photo- electrochemical Etching technique (PEC) was used to produce porous silicon for n-type with orientation of (111). The effects of current density were investigated at: (10, 20, 30, 40, and50) mA/cm2 with etching time: 10min. X-ray diffraction studies showed distinct variations between the fresh silicon surface and the synthesized porous silicon. The maximum crystal size of Porous Silicon is (33.9nm) and minimum is (2.6nm) The Atomic force microscopy (AFM) analysis and Field Emission Scanning Electron Microscope (FESEM) were used to study the morphology of porous silicon layer. AFM results showed that root mean square (RMS) of roughness and the grain size of p

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Crossref
Publication Date
Mon May 27 2019
Journal Name
Al-academy
Problems of Social Networking Sites in Nurturing the Aesthetic Taste of Teenagers: زهراء صبحي خزعل
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With the growing number of Internet users, public and private arts activities have become increasingly popular. Adolescents have begun to establish aesthetic taste and new cultural values. This category is the most affected one by the published images and ideas especially in the social networking space and specifically the Facebook. It is the most important problem in their cultural composition. This research aims to detect the problems of social networking sites in nurturing the aesthetic taste of adolescents. The researcher used the analytical descriptive approach to obtain accurate information describing the current situation or depicting the social reality of adolescents. The research concluded that the public discourse in social med

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Publication Date
Sun Jun 11 2017
Journal Name
Al-academy
The reflection of diode technology light emitting (LED) on the modular design of external lighting
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Search marked (the reflection of diode technology light emitting (LED) on the modular design of external lighting) is an analytical study of the units, external lighting for gardens and adopted in its work on the diode technology emitting light to reach the magnitude of the effect and the change happening where according to this technique was the problem of the research in which is (what emotion the formal and functional units of external lighting according diode technology light emitting) and identified in the first part of it, including the goals came Search of b (statement reversal winning technical transformation of lighting from incandescent bulbs to light emitting diode technology (LED) on each of shape design and the nature of the

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Publication Date
Thu Oct 31 2019
Journal Name
Journal Of Engineering And Applied Sciences
Preparation and Study Some of Properties of Unsaturated Polyester/Soda Lime Glass-Sawdust Hybrid Composite
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Publication Date
Sun Aug 18 2019
Journal Name
Political Sciences Journal
Strategic dimensions of the Turkish role in the map of international and regional forces balances
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It is necessary to examine the nature of the Turkish position and what Turkey seeks to achieve at the international, regional and Iraqi levels. Or is this external role an expression of foreign policy and has not yet reached the level of maturity that reaches the stage of strategy? The answer to this question is the essence of research in the Turkish role. The answer to this question requires the realization of the elements and pillars that guarantee Turkey's continuity and survival. Continuity is a cornerstone of the strategy. The continuity of the role and its interaction with the event and the ability to employ multiple alternatives are what qualify the state to describe its politics. The external strategy has evolved into. In order t

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