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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
Sat Feb 28 2026
Journal Name
المستودع الرقمي للاطاريح
نجاح منظمات الاعمال على وفق التوجه الريادي لتكنولوجيا المعلومات بحث ميداني لعينة من المصارف العراقية الخاصة == The Success of Business Organizations According To The Entrepreneurial Orientation For Information Technology An Field Research At Iraqi Private Banks
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المستودع الرقمي العراقي. مركز المعلومات الرقمية التابع لمكتبة العتبة العباسية المقدسة

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Publication Date
Wed Apr 01 2015
Journal Name
Journal Of Economics And Administrative Sciences
Evaluation of Drinking Waters’ projects in accordance with the standard Malcolm Baldrige Award for Excellence in the framework of total quality management / applied research in Water Department of Baghdad
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The research aims to evaluate the selected projects from the water Department of Baghdad, according to a standard for total quality management and to achieve this goal , adopted the case study method to get to know how close or turn away those projects in the management of Standard Malcolm Baldrige Award for Excellence in Quality Management its comprehensive one scales the world's most famous in this area , in order to draw a general framework to evaluate how project management can benefit from this approach to modern management , input from the entrances of the comprehensive management reform and development.

Be standard Malcolm Baldrige Award of several elements: - leadership , strategic planning , foc

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Publication Date
Sat Jun 01 2013
Journal Name
Journal Of Economics And Administrative Sciences
Comparison between some well- Known methods to estimate the parameter of the proposed method of measurement and the reliability of the distribution function with two parameters Rally by simulation
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Abstract

            Rayleigh distribution is one of the important distributions used for analysis life time data, and has applications in reliability study and physical interpretations. This paper introduces four different methods to estimate the scale parameter, and also estimate reliability function; these methods are Maximum Likelihood, and Bayes and Modified Bayes, and Minimax estimator under squared error loss function, for the scale and reliability function of the generalized Rayleigh distribution are obtained. The comparison is done through simulation procedure, t

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Publication Date
Thu Sep 26 2013
Journal Name
Chemistry: The Key To Our Sustainable Future
Synthesis and Characterization of Some New Metal Complexes of Condensation Reaction Products of 3-Amino-1,2,4-Triazole with Isatin, N-Acetylisatin and Bis (2,3-Dioxoindolin-1-yl)Mercury(II)
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Publication Date
Mon Jan 01 2018
Journal Name
J. Of University Of Anbar For Pure Science
Synthesis, spectral Characterization and studies of Some Divalent Metal Ion Complexes with Ligand of [3-(1H-indol- 3-yl)-2-(3-(4-methoxybenzoyl)thiouereido)propanoic acid] (MTP
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In this work, prepared new ligand[3- (1H-indol-3-yl) -2- (3-(4- methoxybenzoyl)thiouereido) propanoic acid](MTP) has been synthesized by reaction of 4-Methoxybenzoyl isothiocyanate with tryptophane(1:1), The ligand was characterized by elemental microanalysis 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(MTP)2] (M+2 =Mn, Co, Ni, Cu, Zn, Cd and Hg), the proposed geometrical structure for all complexes were tetrahedral except copper complex has a square planer geometry around metallic ion

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Publication Date
Sun Jan 01 2023
Journal Name
The Egyptian Journal Of Hospital Medicine
Training of Skilled Force with The Different Medical Ball and Their Effect on Developing Some Special Physical Abilities and the Accuracy of Long Shooting Performance in Handball
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Publication Date
Wed Jan 01 2020
Journal Name
European J Ournal Of Molecular & Clinical Medicine
Synthesis, Characterization and Antibacterial Evaluation of Mixed Ligand Complexes of 2-phenyl-2-(o-tolylamino) Acetonitrile and Histidine ligand with Co, Cu, Zn divalent Metal Ion Complexes
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Anew mixed compound complexes derived from 2-phenyl-2-(o-tolylamino) Acetonitrile as primary ligand (L1) and histidine (L2) as secondary ligand have been prepared and characterized by conventional techniques, elemental microanalysis (C.H.N), Fourier transform infrared, ultra violet-visible spectra, , flame atomic absorption, molar conductivity, magnetic susceptibility measurement and 1H-NMR spectra. From IR data which appear chelating behavior of the amino acid ligand (L2) toward transition metal ions is via carboxylate oxygen, amino nitrogen and imidazol nitrogen as tridentate ligand while second ligand (L1) chelating through N-nitrile and N-aniline, according to all above technics the octahedral shapes were expected for these complexes as

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Publication Date
Wed May 01 2019
Journal Name
Research Journal Of Chemistry And Environment
Synthesis and Characterization of New Complexes of 2- (Benzo[d]Thiazol-2-ylAmino)-2-(5-Chloro-2-Hydroxy Phenyl) Acetonitrile Ligand with Some Divalent Transition Metal Ions
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A series of metal ion complexes of some divalent transition metal ions having the general composition [ML2Cl2]nH2O with 2-(benzo[d]thiazol-2-ylamino)-2- (5-chloro-2-hydroxy phenyl) acetonitrile ligand has been prepared from 5-chloro-2-hydroxy-benzaldehyde and benzo[d]thiazol-2-amine. Existence of cyanide as potassium cyanide in acidic medium was considered, characterized by elemental chemical analysis, conductance of molarity, magnetic susceptibility measurements, FTIR electronic spectral studies and mole ratio method. FTIR indicates the participation of amino and acetonitrile nitrogen which is coordinated with the central metal ion.

Publication Date
Wed Jan 23 2019
Journal Name
Journal Of Accounting And Financial Studies ( Jafs )
Role of the External Auditor in Review of Interim Financial Information Accordance with the Internation: بحث تطبيقي في عينة من الشركات المدرجة في سوق العراق للأوراق المالية
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In light of the increasing importance of interim financial statements they provided these lists of information that enables users of accounting information to make wise investment decisions and predict the company's activities in light of changes the updated rather than wait until the end of the year and accessing information provided by the annual financial statements. In light of this research has come to the most important set of conclusions the adoption of interim financial information has been audited by the external auditor to the availability of basic qualitative characteristics in the accounting information contained in the (appropriate and timely manner, reliability and comparability) and this in turn leads to the impact on reli

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Publication Date
Fri Jan 01 2021
Journal Name
International Journal Of Clinical Dentistry Preview Publication Details
The effect of surgical approaches on the stability and marginal bone loss of early loaded slactive implants with screw retention mean: Comparative clinical and radiological prospective study
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Purpose: This study aimed to compare the stability and marginal bone loss of implants inserted with flapped and flapless approaches 8 weeks after surgery and 3 months after loading. Material and Methods: Thirty SLActive implants were inserted in 11 patients and early loaded with final restoration 8 weeks after healing period. The stability values determined by Osstell and the marginal bone loss measured by CBCT at the initial time (1st) and 8 weeks of the healing period (2nd) and 3 months after loading (3rd). Results: The overall survival rate was 100%. A significant increase in the 3rd implant stability value in the age of ˂ 40. A significant decrease in the 2nd implant stability value in both gender and traumatic zone with a flapless app

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